Reduced tiller numbers, pale-green leaves, reduced growth rate and dwarf phenotype
The senX3-regX3 deletion mutant shows a growth defect after infection of macrophages and is attenuated in both immunodeficient and immunocompetent mice
Male flies are sterile
Important embryonic and perinatal mortality. Life-born mutants appear normal at birth, but are smaller than their littermates after three days, fail to thrive, and few survive more than three weeks. Thymus and spleen are severely atrophic, and mice display lymphopenia of both T and B lymphocytes, with normal erythrocyte counts. Their thymocytes are abnormally sensitive to TNF-induced cell death and exhibit high levels of spontaneous apoptosis. Macrophages are highly sensitive to TNF and produce high levels of nitric oxide (NO) in response to TNF. Likewise, endogenous TNF production is abnormally increased upon exposure to TNF. Symptoms are much attenuated in mice that are deficient for both Traf2 and Tnfrsf1a/Tnfr1, or Traf2 and Tnf. Likewise, deletion of one Map3k14 allele alleviates symptoms and rescues splenic atrophy and reduction of splenocyte numbers. Mice show normal IgM production in response to viral infection, but lack CD40-mediated proliferation of B-cells. They are deficient in antibody isotype switching and fail to produce IgG
Deletion has only a mild effect on cell growth (PubMed:17941825). However, deletion of both IscA and SufA results in a severe growth phenotype in minimal medium under aerobic growth conditions (PubMed:17941825)
Slight reduction in rosette size and fresh weight and increased starch content in leaves
No effect on plant growth, AOX levels, mitochondrial protein content, and lipid composition
Spontaneous formation of necrotic leaf lesions
Inhibited cell growth due to inhibition of translation initiation. A change from single to multiple VSP expression in individual parasites
Complete embryonic lethality at peri-implantation stage, due to severe detachment of the endoderm and epiblast from the basement membrane. Heterozygous mice lacking one copy of Fermt2 show no visible phenotype, but show decreased tumor angiogenesis upon transplantation of tumor cells, and their blood vessels are abnormally leaky
Deficient mice are embryonic lethal and exhibit craniofacial defects, cardiac abnormalities, and abnormal neuronal migration in the central nervous system
Decreases cellular superoxide dismutase activity (PubMed:16524904). Sensitive to oxygen radicals (PubMed:12496163). Decreases virulence in a mouse inhalation model of infection (PubMed:12496163)
Mutants show defects in 16S rRNA maturation, ribosome activity, translational fidelity, and ribosome assembly. They have severe growth defect at high temperatures, essentially no thermotolerance at lethal temperatures. They also show a decrease in polysomes and a large increase in both free 50S and free 30S ribosomal subunits relative to 70S ribosomes
Mitochondrial connectivity appears normal and also normal in a fis-1 mutant background (PubMed:18722182). Abnormal, but minor, affects on apoptosis, with fewer cell corpses and an increase in cell numbers in a caspase ced-3, ced-4, or dynamin GTPase drp-1 mutant background (PubMed:18722182). Increases number of ectopic cells in a combined ced-3 and drp-1 mutant background (PubMed:18722182). Increases number of ectopic cells in a combined ced-3; ced-9 mutant background, which increases further in a ced-3; ced-9; drp-1 mutant background (PubMed:18722182). Larger number of mitochondria, and little reduction in mitochondria area index, in cell corpses in a ced-1 mutant background (PubMed:18722182)
Leads to longer aerial hyphae and to decreased conidia production (PubMed:30790620). Decreases transcriptional levels of the central development pathway genes brlA, abaA, and wetA during conidiation (PubMed:30790620). Leads to increased expression of kojR and kojA and a subsequent 6-fold increase of kojic acid production (PubMed:30790620)
Mutant mice are deficient in spatial, associative and motor learning
RNAi-mediated knockdown results in defective metaphase to anaphase transition (Mat phenotype) and embryos that arrest at the one-cell stage
Deletion mutation abolishes Vibrio cholerae colonizing capacity (PubMed:2902187). It also shows loss of observable pili (PubMed:8594332)
No visible phenotype (PubMed:22505726)
Cells lacking qcrCAB show strongly impaired growth in glucose minimal medium, which indicates that the bc1-aa3 pathway is the main route of respiration under these conditions
Does not affect the production of pestheic acid (PubMed:24302702)
Increased capacity to promote cytokine release by host dendritic cells (PubMed:28785545). Does not modulate the apoptotic pathways of host cells (PubMed:25047846)
No visible phenotype under normal growth condition, but strong inhibition of root elongation when grown in the presence of Al or on acidic soil
Cells lacking this gene show a drastically diminished ability to hydrolyze stored long-chain triacylglycerol
Mutant worms have decreased egg-laying capacity at 20 degrees Celsius and decreased hatching rate and smaller brood size at 25 degrees Celsius. Mutant worms have high D-Asp and D-Glu content at both egg and young adult stage but do not show any change in physical appearance. Mutant worms also exhibit decreased fertilization rates
Embryos display head and axial defects during organogenesis
Reduced brood size, abnormal egg morphology and arrested egg development. Defects in ovulation with fragmentation of the proximal oocyte and endomitosis. Misplacement of ovulated oocytes into the gonad arms due to a lack of spermatheca-uterine valve formation. Degeneration of gonad tissue. Decreased spermatheca organ size due to decreased spermatheca cell number. Disorganized actin microfilaments in the spermatheca, lack of distal constriction and defects in spermathecal cell differentiation. Misexpression of let-502 in all cells of the spermatheca instead of restricted expression to the distal and proximal regions of the spermatheca. Abnormal differentiation and morphology of the sujc cells that form the core of the spermatheca-uterine valve (PubMed:18096150). Lack of cell divisions of the proximal spermatheca precursor daughter cells due to a failure of progressing to S phase during larval stage L4 (PubMed:25529479). In a fzr-1(ku298) mutant background, increase in spermatheca nuclei number as compared to the nhr-6 single mutant (PubMed:25529479). In a fog-2(q71) mutant background, a large mass of fragmented oocytes in the spermatheca and uterus (PubMed:18096150). RNAi-mediated knockdown leads to reduced brood size and abnormal egg morphology (PubMed:20506374). In a vab-1(e2), vab-1(e699), vab-2(ju1) or vab-2(e96) mutant background, enhanced reduction in brood size (PubMed:25529479). In a vab-2(ju1) mutant background, reduced spermatheca cell number and abnormal spermatheca morphology (PubMed:25529479). In a RNAi-sensitive rrf-3(pk1426) mutant background, defects in spermatheca morphology, including decreased organ size, decreased spermatheca cell number and misplaced spermatheca nuclei. In a RNAi-sensitive eri-1(mg366) mutant background, reduced brood size, abnormal egg morphology and arrested eggs (PubMed:18096150)
Disruption of this gene results in mutants that require exogenous arginine for growth
Substantially reduced viability with surviving males being completely sterile due to a failure of spermatocytes to complete meiosis with arrest happening at the G2-M transition (PubMed:23209437). Defective spermatid cyst polarization (PubMed:24830287). RNAi-mediated knockdown in motor neurons decreases number of synapses and accumulation of the tumor suppressor brat at neuromuscular junctions (NMJ) (PubMed:29105522). Simultaneous knockdown of the tumor suppressor brat restablishes the number of synapses at NMJ (PubMed:29105522)
Fails to form stable long-term memory during male courtship suppression, in which a male fly, upon repeated exposure to an unreceptive female, suppresses its courting behavior for days (PubMed:28525754). In neurons, increases levels of the tumor suppressor brat (PubMed:29105522)
In lobula columnar neurons 11 (LC11) results in a reduction of visual responses to the motion of small objects (PubMed:32075756). RNAi-mediated knockdown in neurons leads to dis-inhibition of male aggressive behavior (PubMed:24241395). RNAi-mediated knockdown in neurons in the alpha/beta mushroom bodies enhances learning (PubMed:18093529). RNAi-mediated knockdown in mushroom bodies enhances appetitive olfactory learning (PubMed:19193904). RNAi-mediated knockdown in PDF-expressing neurons results in decreased sleep but does not alter waking activity, circadian period, or rhythmicity under dark-dark conditions (PubMed:19230663). Simultaneous knockout of adenylate cyclase rut does not enhance the phenotype (PubMed:19193904). Simultaneous knockout of E3 ligase Fbxl4 results in significantly increased duration of daytime sleep and nighttime sleep as well as shortened sleep onset latency (PubMed:29174887)
No visible phenotype under normal growth conditions (PubMed:20479230, PubMed:26306426). Mutant seedlings grown under normal conditions accumulate reduced levels of zinc in roots. Mutant seedlings grown in zinc-depleted medium have reduced root length (PubMed:26306426)
Reduced mating efficiency. Defective sperm. Abnormal distribution of pkd-2
Mice lacking Plpp5 are viable and display no overt physical defect
No visible phenotype under continuous red light (PubMed:26754282). Smax1 and smxl2 double mutants have substential reduction in hypocotyl elongation (PubMed:26754282)
Deletion of the operon under classical laboratory conditions does not result in any major effect on E.coli capacity to form biofilms compared with the wild-type strain
Knockout mice show coiled, bent, irregular, short or absent flagella, defects of sperm flagellar ultrastructure, a significant reduction in sperm locomotion, and decreased sperm count
Morpholino knockdown causes widespread disruption of myofibril organization and decreased muscle striation resulting in curled or bent tails, impaired swimming, and reduced motility in response to touch. Severely bent tails result from subtle abnormalities in somite boundaries and abundant gaps between myofibers
Mice are affected by a distal axonopathy of spinal and peripheral axons, characterized by axonal swelling and degeneration. Mitochondrial morphological abnormalities occur in synaptic terminals and in distal regions of axons long before the first signs of swelling and degeneration and correlate with onset of motor impairment during a rotarod test
Complete sterility, due to shrunken and inviable pollen grains. Premature separation of sister chromatids before metaphase II causes defective meiosis of the male meiocyte
RNAi-mediated knockdown results in reduced Gap43 mRNA levels and impaired learning behavior in radial arm maze training
Mice show an important decrease in salt absorption in the intestine and failed to develop hypertension on a high-fructose diet. Show a reduction in pancreatic duct fluid and bicarbonate secretion. Show enhanced oxalate absorption in the intestine leading to hyperoxalemia and hyperoxaluria with high incidence of calcium-oxalate stones formation
Deletion mutant together with deletion of toxin Tse4 leads to a significant loss of fitness advantage when placed in competition with parental strains
The nadB-pncB double mutant loses the ability to grow on minimal medium supplemented by 0.1 mm nicotinate, but it can grow normally in the presence of 0.1 mm nicotinamide
Displays profound hypersensitivities to cumyl hydroperoxide, potassium superoxide, many singlet oxygen-generating compounds (eosin Y, rose Bengal, hematoporphyrin, methylene blue, and cercosporin), and the cell wall biosynthesis inhibitor, Congo red (PubMed:28060864). Also increases sensitivity to copper ions, clotrimazole, fludioxonil, and kocide fungicides, 2-chloro-5-hydroxypyridine (CHP), and 2,3,5-triiodobenzoic acid (TIBA) (PubMed:28060864). Leads to smaller necrotic lesions on leaves of a susceptible citrus cultivar (PubMed:28060864)
Has a respiratory growth defect. Shows complete loss of growth on nonfermentable carbon source and a gradual loss of mtDNA with replicative cell growth and an increasing number of generations
No visible phenotype under normal growth conditions
Defective extension of body wall muscle connections or arms towards the ventral nerve cord. Double knockout with madd-3 results in severe muscle arm extension defects
Structural cilia defect: cilia are short and lack distal portions
Loss of the 8 Cas genes in this locus (cas1, cas2, cas3, cas4, cas5, cas6, cas7 and cas8b) leads to loss of CRISPR interference against plasmid targeted by this CRISPR locus, i.e. plasmid is not destroyed by CRISPR
Simultaneous knockout of wtf15 results in normal vegetative cell population growth (PubMed:32032353). Simultaneous knockout of wtf15, wtf11 and wtf7 results in normal spore viability (PubMed:32032353)
No visible phenotype under normal growth condition, but significant reduction in total cell wall arabinose. Rgp1 and rgp2 double mutant is male gametophyte lethal, with an arrest in pollen mitosis (PubMed:17071651). RNAi-mediated knockdown of both RGP1 and RGP2 causes severe developmental defects and strong reduction in total cell wall arabinose (PubMed:21478444)
Hypersensitive ABA response of stomatal closing and substantial increase of drought tolerance
Accelerated growth of various plant organs including roots and inflorescence shoots
Decreases the physical interaction between MON2 and DOP1
Mice display myelination abnormalities characterized by extracellular vacuolation along nerve fibers. Mice lacking both Gja12 and Gjb1 display a more severe demyelination phenotype associated with oligodendrocyte death. These mice develop action tremors, tonic seizures, sporadic convulsions and loss of consciousness preceding death in the sixth week after birth
Abcd1 hemizygous males are viable and apparently healthy and they show no detectable motor defect for at least 4-month-old. Inbreeding homozygous and hemizygous Abcd1-deficient mice show a reduction of fertility. Moreover, among several 6-month-old mice, there is at least one apparently infertile mutant of each sex. The infertile hemizygous male show additionally a severe testicular atrophy (PubMed:9418970). Abcd1 hemizygous mutant male and homozygous mutant mice grow normally, are fer- tile, and appear normal at least up to one year of age (PubMed:9126326). Abcd1 hemizygous mutant male and homozygous mutant mice grow normally, are fer- tile, and appear normal at least up to 6 months of age (PubMed:9256488). At 20 months of age, Abcd1 homozygous mice present an impairment of their locomotor coordination and exploratory abilities (PubMed:11875044, PubMed:15489218). Double Abcd1 and Abcd2 knockout mice exhibit severe impairment of their locomotor coordination and exploratory abilities already at 15 months of age (PubMed:15489218)
Normal phenotype
Mice develop normally and are fertile. They display normal leukocyte subpopulations in peripheral blood and bone marrow, but the amount of neutrophils is reduced in the airspace. Susceptibility to pneumonia induced by K.pneumoniae is increased with decreased survival and increased bacterial burden in lung
Able to grow photoautotrophically only in dim light, oxygen evolution is 10-20% of wild-type, reduced accumulation of protein D1 (PsbA)
Cells have more than three vacuoles with a grape-like assembly
Leads to the accumulation of sorbicillinol and impairs the production of oxosorbicillinol (PubMed:28618182)
Deletion of the gene increases sensitivity to the amphomycin derivative MX2401, which binds UndP in the outer leaflet of the cytoplasmic membrane and prevents its recycling (PubMed:36450357). Deletion of the gene sensitizes B.subtilis to reduced levels of UndP synthesis (PubMed:36450357). The double mutant uptA-ykoX exhibits increased sensitivity to the amphomycin derivative MX2401, but has no discernible growth or morphological defects (PubMed:36450357)
Lethality between 2 weeks of birth, due to pancytopenia (PubMed:19633199). Peripheral blood shows a decrease in red and white cells, hemoglobin, hematocrit and platelets (PubMed:19633199). Yolk sacs from 11.5 dpc and fetal livers from 14.5 dpc display markedly reduced numbers of definitive multilineage and lineage-committed hematopoietic progenitors (PubMed:19633199). Mice lacking the N-terminus (DeltaN-ZFP36L2) display female infertility, with embryos that cannot progress beyond the 2-cell stage of development (PubMed:15342461). Show evidence of axonal and fiber degeneration (PubMed:25505318). Exhibit increased REST mRNA stability and REST protein expression in primary neuronal cells from superior cervical ganglion (SCG) and dorsal root ganglion (DRG) (PubMed:25505318). Mice lacking both ZFP36L2 and ZFP36L1 during thymopoiesis lead to aberrant T cell development and subsequently develop a T-cell acute lymphoblastic leukemia (T-ALL) (PubMed:20622884). Show also higher levels of NOTCH1 mRNA and protein in thymocytes (PubMed:20622884). Conditional knockout mice of both ZFP36L2 and ZFP36L1 in pro-B cells display reduced B lymphocyte number and delayed variable-diversity-joining (VDJ) recombination (PubMed:27102483). Exhibit also increased protein and ARE-containing mRNA expressions of several factors implicated in cell cycle progression in late pre-B cells (PubMed:27102483)
Flies are not viable. However, the decreased expression due to gene disruption leads to a temperature-sensitive phenotype with paralysis at 38 degrees Celsius
Essential, gene silencing is bactericidal (PubMed:33468587). Depletion of PatA causes a block in the biosynthesis of PIMs, resulting in severe changes in the composition of the mycobacterial cell wall membrane, which correlates with the loss of viability (PubMed:33468587)
Lethal at the larval stage of development. Defects in the development of the excretory system during embryogenesis and the early stages of larval development. Dilated lumens of both the excretory canal cell and excretory duct which become apparent between the early and mid 3-fold stages of embryogenesis and increases in severity as development progresses. Lumen dialation may be as a result of fluid accumulation due to blockage of the lumen. At around the time of hatching, the autocellular junction, which usually seals the excretory pore tube, is absent. Detached excretory duct and pore cells, which usually connects the excretory canal cell to the outside environment for excretion. Irregular morphology of the epidermis and vulva in larvae at the L1 stage of larval development
Mice show no response in electroretinograms at low light intensity (PubMed:9020854). They fail to form rod outer segments leading to degeneration of photoreceptor cells within 3 months of birth (PubMed:9020854, PubMed:32312889)
Cells do not grow in low DIC levels, increased carboxysome content. Decreased ability to accumulate and fix DIC under DIC-limiting conditions
Prevents the formation of normal conidiophores (PubMed:2823119)
Mutants are more sensitive to nalidixic acid, mitomycin C and other stresses such as hydrogen peroxide or UV irradiation
Centromere DNA hypomethylation and centromeric heterochromatin decondensation in interphase. Decreased DNA methylation primarily at CpG sites in genic regions, as well as repeated sequences in heterochromatic regions. Released transcriptional silencing at heterochromatin regions. Ectopic CpHpH methylation in the 5S rRNA genes against a background of CpG hypomethylation
Deletion of the cntABCDF genes decreases StP intracellular levels and decreases the import of iron, zinc, nickel and cobalt
Disruption of this gene suppresses a cyclopropane group at the distal position of alpha mycolic acid. Mutant produces fully cyclopropanated methoxymycolates, but the efficiency of cis-methoxymycolate cyclopropanation is reduced, leading to accumulation of unsaturated methoxymycolate derivatives. Cis/trans ratios in purified ketomycolates are unchanged (PubMed:12502719). Cells lacking both cmaA2 and mmaA2 genes cannot cis cyclopropanate methoxymycolates or ketomycolates (PubMed:20472794)
Loss of curli fimbriae, decreased biofilm formation, decreased expression of DgcC, a probable diguanylate cyclase and of the curli regulator CsgD
Morpholino knockdown of the protein results in randomnized heart looping at 48 hours post-fertilization
Slow processing of the 17S rRNA precursor to 16S rRNA, with significant accumulation of a 16.3S rRNA precursor with 66 extra nucleotides at its 5' end (PubMed:10329633, PubMed:10362534, PubMed:20176963, PubMed:32343306). Ribosomes with the precursor 16S rRNA show decreased translational fidelity and an increased sensitivity to aminoglycoside antibiotics neomycin and paromomycin (PubMed:20176963). In contrast another group, using independently generated rng deletions in 2 different strains, showed decreased sensitivity to aminoglycoside antibiotics kanamycin, neomycin, paromomycin and streptomycin (PubMed:24489121). A double rne-rng mutated strain no longer processes the 17S rRNA precursor (PubMed:10329633, PubMed:10362534). Significant accumulation of AdhE and enolase, greatly increased stability of adhE and eno mRNA (PubMed:11380618, PubMed:12450135). Accumulation of a 23S rRNA precursor (PubMed:21717341)
RNAi-mediated knockdown results in reduced lifespan and increased sensitivity to paraquat-induced oxidative stress
Morpholino knockdown of the protein causes defects in development, abnormal locomotion and increased mortality. At 3 days postfertilization morphants have abnormally (delayed) developed eyes
Mutants can't increase the size of their oocyte during oogenesis
No visible phenotype, but loss of membrane-bound LFNR1 or LFNR2
Reduced pectin deposition leading to reduced seed coat mucilage thickness (PubMed:20618910). Characteristic pattern of pectin deposition to the corners of seed coat volcano cells (PubMed:20618910)
Decreased growth on nutrient limitation and reduced cell flocculation compared to wild-type
Mice are normal and do not display iron stores defects, even in the setting of iron deficiency. These results, reported by PubMed:15961514, suggest that Cybrd1 is not an essential component of intestinal iron apparatus. However, according to PubMed:16326980, no direct measurements of iron absorption were made by PubMed:15961514, suggesting that final conclusions can be drawn only when direct iron absorption studies are carried out or mice are maintained on a diet containing ferric iron only
Mice are born at the expected Mendelian rate, but about 80% die within two to five days after birth due to peritonitis (PubMed:7685652). Those that survive fail to thrive, appear runted and weigh about half as much as wild-type littermates (PubMed:7685652). Many of the surviving pups die when they start ingesting solid food, due to intestinal blockage caused by excessive mucus accumulation (PubMed:7685652). None survive for more than about 45 days after birth (PubMed:7685652). Intestinal crypts in the jejunum and ileum are filled with excessive mucus (PubMed:7685652). Excessive accumulation of mucus is also seen in colon (PubMed:7685652). In contrast, their lungs do not present pathological mucus accumulation (PubMed:7685652). Likewise, only five out of ten animals show dilatation and blockage of several small pancreatic ducts (PubMed:7685652). Besides, mutant mice present defects in their lacrimal glands that make them more susceptible to develop eye infections (PubMed:7685652). In caecum epithelium, forskolin-sensitive ion transport is nearly abolished (PubMed:7685652)
No visible phenotype
Fasciation. Flattened and wider ears with irregular rows of seeds. Thicker rachis of tassels and increased floral organ numbers
Albino and dwarf phenotype
Embryo lethal (Ref.8). Delayed embryogenesis and albino embryos, with seedling development blocked in the cotyledon stage (PubMed:19525416). Under heterotrophic growth conditions, seedlings develop into small albino to virescent seedlings (PubMed:19525416)
Increased cell death spreading after Alternaria brassicicola infection, and enhanced salicylic acid (SA) responses and resistance to the biotrophic bacterial pathogen Pseudomonas syringae pv. tomato DC3000. Impact on several BAK1-regulated processes, such as hyperresponsiveness to pathogen-associated molecular patterns (PAMP), enhanced cell death, and resistance to bacterial pathogens, but normal brassinosteroid-(BR-)regulated growth
Cells are unable to grow on D-galacturonate
Premature apoptosis-like programmed cell death (PCD) in tapetum and pollen from developing anthers, leading to collapsed pollen grains
Mutant shows severe swimming defect
CutC-nlpE double mutants show increased copper sensitivity (PubMed:7635807). However, the copper sensitivity phenotype of the mutant was later shown to be due to the loss of MicL sRNA and elevated Lpp levels (PubMed:25030700)
Abolishes the production of Aspernidine A
Abolishes the production of the janthitremanes shearinine A, F or K but accumulates 13-desoxypaxilline
Strains lacking this gene are shown to be attenuated in a mouse tuberculosis model
Knockdown of both fbxw11a and fbxw11b results in abnormally developed pectoral fins and heart edema by day 3 post-fertilization (3 dpf). At 5 dpf, knocked-down embryos show periocular edema, small and misshapen eyes, and abnormal development of the jaw
Increased sensitivity of embryonic cortical neurons to oxidative stress. Age-dependent increase in mitochondrial hydrogen peroxide production and reduced mitochondrial aconitase activity. Down-regulation of Slc25a14 and Slc25a27, compromised calcium-induced uncoupling and increased oxidation of mitochondrial matrix proteins specifically in the dopaminergic neurons of the substantia nigra pars compacta. Reduced N2el2 protein expression. Impaired mitochondrial function and morphology with reduced autophagy leading to accumulation of defective mitochondria. Targeted knockouts in astrocytes exhibit augmented LPS-induced CRK/p38 phosphorylation and signaling, they don't stimulate TLR4 endocytosis upon LPS stimulation. Knockout animals present increased bacterial burdens, reduced local and systemic inflammation, macrophage paralysis and impaired induction of pro-inflammatory cytokines, such as IL6 and TNF, under the condition of sepsis (PubMed:26021615). Mutants from 12 weeks old, but not younger, show higher levels of reactive oxygen species (ROS) and mitochondrial fragmentation in pancreatic islets. They have lower levels of plasma insulin after glucose challenge, display glucose intolerance and have reduced beta-cell area. Younger mutants kept on a high fat diet also show lower levels of plasma insulin, display glucose intolerance and have reduced beta-cell area (PubMed:22611253). Animals become diabetic upon multiple low doses of streptozotocin with reduced insulin concentrations, higher fasting blood glucose concentrations and higher rates of beta cell apoptosis compared to wild type (PubMed:26422139)
Slight alteration of vegetative growth and reduced overall reproductive potential characterized by delayed bolting and lower number of siliques reduced in size
Cells are resistant to methionine-analogs, such as DL-ethionine(Et)
Mice develop normally, appear healthy and are fertile
Sensitive to nitrite, but not to nitrate (PubMed:15547266). Loss of anaerobical respiration of nitrite, but the mutant is still able to utilize nitrite as a nitrogen source for growth (PubMed:25534748)
Mutants lack FDH-N activity and exhibit defects in FDH-H activity
Reduced carbon fixation rates during the day, but increased respiration during the night (PubMed:20207708). Shorter roots (PubMed:16481625)
Strongly reduced nicotine biosynthesis but accumulation of dihydromethanicotine (PubMed:21343426). Inhibition of jasmonate-elicited formation of anatabine and other pyridine alkaloids (PubMed:21343426)
Mice (older than 14 months) are prone to aortic dilation as well as cystic medial degeneration (CMD)
Mutants show normal uptake and processing of transforming DNA. They also display normal sensitivity to DNA-damaging agents
Blocks the autophagic process (PubMed:29417220). Leads to fewer aerial hyphae and slower mycelial growth rate and fails to produce any conidia (PubMed:29417220). Reduces also the production of sclerotia in cold environment (PubMed:29417220). Fails to infect wounded cucumber leaves and shows only slight virulence on wounded tomato and grape fruits (PubMed:29417220)
No visible phenotype under normal growth conditions, but mutant plants are susceptible to the pathogen Leptosphaeria maculans
No visible phenotype. Flies are viable and fertile
No visible phenotype, due to the redundancy with other RGF genes (PubMed:20798316, PubMed:23370719). Slower root growth after (Pi)-deprivation (PubMed:25856240). Triple mutant rgf1-rgf2-rgf3 shows a decreased meristematic cell number resulting in a short root phenotype associated with an altered PIN2 traffic (PubMed:20798316, PubMed:23370719)
No visible phenotype, but slight modification of the amino acid composition. Growth defect, when grown in vitro
No visible phenotype under normal growth conditions, but the double mutants ucn-2 and ucnl-5 are embryonic lethal
Root nodule development arrested at the primordia stage and defect in nitrogen-fixing symbiosis in presence of Mesorhizobium loti
No visible phenotype under normal growth condition, but important reduced growth and leaves with severe chlorosis when grown on soil at pH 7.9 that causes limited iron availability
Knockout mice die in utero during early development. Mice heterozygous for a null allele exhibit developmental defects similar to the teratology of zinc deficiency (PubMed:17483098). Slc39a4-intestine knockout mice reveal that total zinc is dramatically and rapidly decreased in these organs whereas iron, manganese, and copper slowly accumulated to high levels in the liver as the disease progressed. Defect in zinc uptake are followed by a switch from anabolic to catabolic metabolism in the mouse leading to dramatic weight loss, dyshomeostasis of several essential metals and ultimately lethality in the absence of excess dietary zinc (PubMed:22737083)
Impairs the production of terrequinone A (PubMed:18029206)
Reduced galacturonic acid content in cell wall
Leads to defective tolerance to cell wall stress and antifungal agents targeting cell wall components, defective plasma membrane structure, defective endocytosis, impaired lipase secretion, SAP2 over-production, increased adherence, aberrant biofilm formation, defective macrophage killing, and decreased virulence in a mouse infection model
Loss of NADH-dependent reduction of propionaldehyde in BMCs. BMCs appear to be normal, cells grow more slowly on 1,2-PD with limiting or saturating CN-B12
Shows gonad disorganization, nerve cord defasciculation and defects in distal tip cell migration and axonal pathfinding. Shows local basement membrane deficiency and early gonad disruption
Mice lacking all isoforms encoded by both Schip1 and Iqcj-Schip1 are fertile and survive as long as wild-type mice. However, they exhibit mild growth delay associated with ataxia and reduced pain sensitivity. They display decreased thickness of the piriform cortex and partial agenesis of the anterior comissure which could be due to impaired axon elongation and guidance. The morphology of nodes of Ranvier is affected but nerves do not exhibit significant electrophysiological characteristic differences. A reduction in the number of axonal projections in the peripheral nerve system is also observed
Morpholino knockdown of the protein causes strong expansion of the gut lumen, due to excessive fluid accumulation
No visible phenotype under normal growth conditions, but mutant seeds show decreased sensitivity to abscisic acid (ABA) during germination
The double mutant tmoXW shows significant reduced growth on TMAO as a sole nitrogen source (PubMed:24550299). Growth on trimethylamine (TMA), glycine betaine (GBT), choline and carnitine is unaffected (PubMed:24550299)
Causes resistance to toxic polyamine concentrations (PubMed:15855155). Present in the 5'-UTR of plasma membrane ATPase 1 (PMA1), the ORF spans two upstream activating sequences (UAS) that are important for the expression of PMA1, and the deletion phenoytpe is attributed to down-regulation of PMA1 (PubMed:16374585)
Morpholino knockdown of the protein causes slight decreases in both anterior-posterior and dorsal-ventral axes, while trunk and tail anatomy are otherwise normal. Vascular patterning is relatively normal, although defects are detected in maturation of the caudal vein: the caudal venous plexus fails to resolve and both dorsal and ventral veins continue to carry blood flow
Mutants are deficient in reductive metabolism of phenylalanine, tyrosine and tryptophan, and exhibit growth defects when cultured with amino acids as the sole carbon source
No visible phenotype (PubMed:30309966, PubMed:30255504). The triple mutant kea4 kea5 kea6 is compromised in cell wall biosynthesis and has a reduced growth, small rosettes and short seedlings, and is sensitive to low potassium K(+) availability and to high salinity (e.g. K(+), NaCl and LiCl); it also exhibits a reduced luminal pH in the Golgi, trans-Golgi network, prevacuolar compartment and vacuole (PubMed:30309966, PubMed:30255504). These phenotypes are partially suppressed by the cell wall-derived pectin homogalacturonan trigalacturonic GalA(3) in the dark but not in light conditions (PubMed:30255504)
Not essential in rich media; synthetic growth defects are seen in double rqcH ssrA mutants, further exacerbated by translational inhibitors spectinomycin and erythromycin or at elevated temperatures. Decreased accumulation of a stalled reporter protein. Triple rqcH clpP ssrA mutants cannot be generated
Increases susceptibility to copper toxicity and decreases fitness upon co-incubation with macrophage like cell lines (PubMed:29089435). Increases RNA level of genes involved in iron uptake (PubMed:29420779). Increases mitochondrial iron levels (PubMed:29420779). Increases mitochondrial reactive oxygen species (ROS) levels (PubMed:29420779). Increases mitochondrial complex I activity (PubMed:29420779). Decreases cellular heme levels (PubMed:29420779). Sensitive to hydrogen peroxide (PubMed:29420779). Abolishes cell population growth on the non-fermentable carbon source ethanol and acetate (PubMed:29420779). Decreases cell population growth rate; growth rate improves in a low oxygen environment (PubMed:29420779). Decreases virulence in a mouse intranasal infection model (PubMed:29420779)
Mice display perinatal lethality, growth retardation, severe anemia and a delay in terminal differentiation of the kidney, intestine, liver and lungs during embryogenesis. Moreover, eye development can be severely disturbed, ranging from defects in retinal differentiation to complete unilateral or bilateral absence of eyes. According to PubMed:14645847, mice are defective in removing apoptotic cells, especially in the lung and brain, in which dead cells accumulate, causing abnormal development and leading to neonatal lethality. According to PubMed:14715629, mice lacking Jmjd6 display a reduced number of macrophages and apoptotic cells in fetal liver. In contrast, according to PubMed:15345036, mice show a normal engulfment of apoptotic cells. The contradictory results concerning apoptosis and macrophage function may be explained by the fact that the protein plays a key role in hematopoietic differentiation
Mice show reduced atherosclerotic lesions. There is down-regulation of ICAM-1 in endothelial cells at the lesion periphery, and reduced disruption of Cx43 junctional staining at arterial branch points and in the descending aorta
Defective embryo arrested at the globular stage
Totally blocks pigmentation of conidia and leads to colonies with on a white tinge (PubMed:25530311)
RNAi-mediated knockdown causes lethality at the third-instar larval or early pupal stage
Viable, however mice develop progressive deterioration in retinal response, and male mice are sterile (PubMed:28369466, PubMed:28475715). Progressive retinal rod dysfunction first evident from one month of age progressing to almost undetectable scotopic response at one year of age (PubMed:28369466). Progressive degeneration of photopic response by retinal cone receptors first evident at one year of age (PubMed:28369466). Defective retinal morphology with significant thinning of the outer nuclear layer and reduced rows of nuclei (PubMed:28369466, PubMed:28475715). Accumulation of vacuole-like structures at the apical inner segment of the retina (PubMed:28369466). Reduced and disorganised photoreceptors with shortened fragmented outer segment (PubMed:28475715). Altered endoplasmic reticulum (ER) organization with increased ER area near the base of the outer segment, increased number of mitochondria in the rod ellipsoid region and induction of ER stress (PubMed:28475715). Reduced retinal expression of phototransduction proteins Cngb1 and Gnat1 and of Aipl1 (PubMed:28369466). Reduced expression of guanylate cyclases Gucy2e/GC1 and Gucy2f/GC2 in the rod outer segment and mislocalization of Pde6a from the outer segment to the inner segment and outer nuclear layer (PubMed:28475715)
Male mice are infertile with smaller testis and epididymis, but female mice retain normal fertility (PubMed:31930642). Spermatogenesis in the male mouse is arrested at the spermatocyte stage, and no sperm is found in the epididymis (PubMed:31930642). Germ cells apoptosis is increased without changes to the serum concentration of testosterone, LH, and FSH or synapsis and recombination during meiosis (PubMed:31930642)
Deletion mutant exhibits morphological defects, including cell widening and filamentation, and cell division defects (PubMed:20497504, PubMed:20497503, PubMed:20497502). Inactivation causes severe defects in outer membrane invagination, resulting in a significant delay between cytoplasmic compartmentalization and final separation of the daughter cells (PubMed:20497502). Cells lacking the gene also show outer membrane blebbing at the division site, at cell poles and along the cell body (PubMed:20497504)
Impairs the production of fusaric acid (PubMed:25372119)
Cells show a dark red color when grown on an air-medium interface that induces development. Cells are able to initiate the cycle but are blocked in the initial stage of early nest formation. Cells exhibit reduction in asexual development and block in sexual development
Aberrant ratio of prespore to prestalk cells. Cells stall and only 10% of the aggregates form fruiting bodies. The fruiting bodies that do form have abnormal shapes, with enlarged stalks and aberrantly small mass of spores. Cells also show a decreased exocytosis rate, decreased pH of endocytic vesicles, lack of morphologically distinguishable post-lysosomal compartments as well as perturbation of the cell cycle-regulated cytosolic pH. Cells infected with Legionella pneumophilia are defective for maturation of the L.pneumophilia replication vacuole
Mice show loss of endothelial caveolae in lung and adipose tissue but no effect on the abundance of endothelial caveolae in the heart
Normal growth with moderate reduction in lignin levels (PubMed:20876124). Increased expression of caffeoyl CoA 3-O-methyltransferase (CCoAOMT) (PubMed:20876124)
Defecation abnormalities
Reduced accumulation of catharanthine and vindoline, but accumulation of akuammicine and short-lived MIA
No visible phenotype under normal growth condition, but strong reduction of triose phosphate export from the chloroplast and reduced photosynthetic acclimation
Impairs the production of imizoquins and leads to delayed germination (PubMed:29182847)
Produces poor biofilms and decreases infection on rat denture models (PubMed:20605982, PubMed:20705667). Increases phagocytosis of the fungus by host cells in presence of estrogen (PubMed:34986357). Decreases expression of GPD2 (PubMed:34986357)
Weak posterior-directed transformations in all 3 thoracic segments and in the anterior segments of the abdomen
Cells lacking this gene are unable to produce oxytetracycline
Displays down-regulation of regA, cAMP-dependent phosphodiesterase, and overexpression of protein tyrosine kinase during early development and its shutdown during late development
Slight decrease in magnetic response, has about 30% fewer magnetosomes which are about 40% smaller than wild-type. Double mamH-mamZ deletion cells have a poor magnetic response and very few wild-type crystals; most cells have flake-like crystals (PubMed:23889511). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
No visible phenotype. Mice are normal and less sensitive to oxygen-induced retinopathy. Mitochondria show increased production of reactive oxygen species. Newborn mice show increased radiation-induced apoptosis in brain and thymus, due to increased levels of TP53 and increased TP53 activity. Likewise, cultured embryonic fibroblasts are highly sensitive to DNA damage caused by UV irradiation or doxomycin and display increased levels of TP53 and increased TP53 activity, leading to increased apoptosis. Cultured embryonic fibroblasts are more susceptible to cell death caused by influenza virus infection and produce about 200 times more virus particles than wild-type
Seedling lethality under normal growth conditions
Homozygous knockout animals are viable (PubMed:28681861). While, larval and early juvenile fish show no overt phenotype, adult animals are small and develop craniofacial deformities (PubMed:28681861, PubMed:30016436). Mutant embryos lack fast-twitch myoblast fusion at 24 hours post-fertilization (hpf) (PubMed:25078621, PubMed:28681861, PubMed:28161523, PubMed:30016436). No alteration in the organization of slow-twitch myofibers, that do not fuse (PubMed:28681861, PubMed:30016436). In adults, fast-twitch musculature shows variably-sized hypotrophic fibers with variable degrees of fatty infiltration compared to wild-type siblings (PubMed:28681861, PubMed:30016436)
Cells display severe growth defects
The fat-4 mutants lack detectable Delta(5)-unsaturated fatty acids
Reduced length of hypocotyls
No effect on the levels of free amino acids in seeds, but reduced levels of Val, Ser and Thr in leaves. Increased levels of Met-derived glucosinolates in leaves
Cells lacking tcsL are not able to induce lethal infections (PubMed:21199912). Infected mice also show strongly reduced formation of edema during uterine infection (PubMed:21199912)
Results in significant reduction of pseurotin production (PubMed:24082142)
No visible effect. Enhances LRX1 disruption phenotype when associated with LRX1 disruption; frequent rupture of root hairs soon after their initiation
Results in the cardinal features of Bardet-Biedl syndrome, including defects to the ciliated Kupffer's vesicle, delayed retrograde melanosome transport and impaired visual behavior
Mice are viable with no obvious developmental or physiological impairments. In addition, they do not display alterations in chronic responses to cocaine and amphetamine administration, but do however display significantly diminished acute behavioral and neurochemical responses to these drugs
Shorter hypocotyls in etiolated seedlings, epinastic cotyledons, reduced rosette leaf production by half and late flowering under short-day conditions. Reduced sensitivity to gibberellin and brassinosteroid in seed germination, hypersensitivity to abscisic acid in seed germination and early seedling development, and hyposensitivity to auxin in adventitious and lateral root formation. Plants show a significant resistance to water stress conditions by limiting water loss through the guard cells
Essential, it cannot be deleted
RNAi-mediated knockdown results in no defects in brood size or locomotion compared to wild-type (PubMed:28978740). No defects in cytoneme length of distal tip cells (PubMed:28978740)
No visible phenotype, but activation of the unfolded protein response. Loss of seedling growth inhibition in response to the pathogen-associated molecular pattern (PAMP) elf18
Heterozygous mice show benign and modest elevations of serum calcium, magnesium and parathyroid hormone levels as well as hypocalciuria. Homozygous mice show neonatal severe hyperparathyroidism, had markedly elevated serum calcium and parathyroid hormone levels, parathyroid hyperplasia, bone abnormalities, retarded growth and premature death
Mitotic defects including failure in cytokinesis
Cells lacking this gene show no changes in gene induction following hypoxia, or exposure to NO or CO (PubMed:11416222, PubMed:15033981, PubMed:18474359). Another publication shows a severely attenuated response to CO (PubMed:18400743). Cells lacking both this gene and DosT have no response to hypoxia, or exposure to NO or CO showing both proteins are required for the hypoxic, NO and CO responses (PubMed:15033981). 95% decreased induction of the DevR (DosR) regulon during anaerobic growth, 50% decreased induction of the DevR regulon upon exposure to NO during aerobic growth (PubMed:19487478)
No visible phenotype, except a longer hypocotyl in light-grown seedlings
Strain is no longer resistant to plaque formation by bacteriophage phiC31 (a Pgl- phenotype)
Loss-of-function mutant pol-6 (T-DNA insertion) shows suppression of clavata mutant phenotypes. The catalytic activity of POL may be functionally replaced by the activity of PLL1. Pol and pll1 double mutant is seedling lethal
Semi-dwarf with altered numbers of floral organs and rachis branches. Reduced number of tillers
(Microbial infection) Increased resistance to potyvirus such as soybean mosaic virus (SMV), bean common mosaic virus (BCMV) and watermelon mosaic virus (WMV), but susceptible to bean pod mottle virus (BPMV)
Mutants display shorter flagella and cannot swim
Disruption of glgB is lethal for the bacteria in vitro. Affects the production of both extracellular alpha-D-glucan and intracellular glycogen
Abnormal linear element formation (PubMed:33825974, PubMed:23395004). Decreases meiotic gene conversion at ade6 (PubMed:23395004). Decreases crossing-over between ade6 and arg1, and lys4 and his4 (PubMed:23395004). Abnormal sporulation (PubMed:33825974)
Mutant is unable to secrete enterobactin efficiently. It secretes little, if any, enterobactin, but elevated levels of enterobactin breakdown products 2,3-dihydroxybenzoylserine (DHBS) monomer, dimer and trimer
Leads to hypersensitivity to oxidative stress, increased sensitivity to killing by macrophages, reduced ability to invade epithelium cells, and attenuated virulence in a mouse model. Shows defects in hyphal maintenance, hyphal growth and flocculation. Prevents the localization of the Spitzenkoerper to hyphal tips. Enhances mitochondrial depolarization and apoptosis
Increased accumulation of methylthiooctyl glucosinolates in seeds
Suppression of PcG defects in several PRC1 and PRC2 components including lhp1 (in alp1-2 and alp1-3 mutants) and clf (in alp1-3 and alp1-4 mutants) phenotypes (PubMed:26642436, PubMed:22837357). In alp1-4, weak downward curling and slightly late flowering in short days. Increases synergistically ult1 and ult2 floral organ defects in double mutants alp1-3 ult1 and alp1-3 ult2. The double mutant alp1-3 efs has a stronger dwarf, branched phenotype than efs single mutant (PubMed:26642436)
Eliminates the production of fellutamides (PubMed:27294372)
Mice lacking Lhx6 fail to thrive, develop general weakness and die within the first 2 weeks after birth
Deletion of this gene decreases the growth rate of cells on conjugated linoleate but not on palmitate (PubMed:18702504). Deletion of this gene also decreases 3-hydroxybutanoate, 3-hydroxyhexanoate, 3-hydroxyoctanoate, and hexanoate in medium after cultivation with oleate as a sole carbon source (PubMed:20547355)
Causes early embryonic lethality (PubMed:30352685). Conditional deletion in the liver leads to decreased number of circulating lipoproteins (PubMed:30352685)
Causes conditional lethality. Strains bearing this mutation do not grow at temperatures exceeding 30 degrees Celsius
Morphants show a significant reduction in head area and interpupillary distance compared with controls. Morpholino gene knockdown does not induce an increased death rate
No photomorphogenic phenotype
Short, bulged and branched root hairs. Accumulates elevated levels of PtdIns(4)P in roots
Mice show a delay in postnatal testis development but normal spermatogenesis and fertility
No visible phenotype under normal growth conditions, but mutant plants have strong reduction of arabinose content in leaves and stems due to a decreased content of pectic arabinan
Worms show no phenotype but, when also lacking ceh-20, incompletely penetrant embryonic lethality is observed
Mice are viable and normal in size but display increased interferon-stimulated genes (ISGs) levels and are resistant to several viral infections (PubMed:30591559). Mice lacking Ythdf1, Ythdf2 and Ythdf3 display early embryonic lethality and show defects in embryonic stem cell differentiation (PubMed:32943573)
No visible phenotype when grown under normal conditions (PubMed:23524662). No visible phenotype when grown in presence of zinc (PubMed:17277087). Hypersensitivity to drought stress and auxin-related defects (PubMed:23524662)
Disruption of the gene decreases resistance to beta-lactam antibiotics such as oxacillin (PubMed:12959401). Does not affect susceptibility to D-cycloserine, fosfomycin, beta-D-chloro-alanine, moenomycin, bacitracin or vancomycin (PubMed:12959401). Mutant shows abnormalities in the composition of cell wall peptidoglycan and cell wall precursor pool (PubMed:12959401, PubMed:16547042). Transcription of mecA is substantially reduced in the mutant (PubMed:12959401)
Partial suppression of phenotypes observed in brx mutants such as reduced root growth and smaller root meristem size (PubMed:27354416). Reduced sensitivity to externally applied CLE45 peptides in term of root growth suppression (PubMed:27354416)
Lethal when homozygous
No defect in tachyzoite growth, intracellular replication and host cell invasion
Embryonic lethal with developmental arrest between E3.5 and E6.5. Arrest of blastocysts cultured in vitro is rescued by the addition of spermidine
Deficient mice cannot repair UV-induced DNA damage and easily develop skin cancers by UV irradiation. They develop stronger longer-lasting acute inflammation, they show a more severe UV-induced damage of keratinocytes and Langerhans cells as well as the enhancement of local and systemic immunosuppression. PGE2 and COX2 expression is greatly increased after UVB irradiation, this causes the enhancement of inflammation and immunosuppression. Natural killer cell activity is also significantly decreased (PubMed:11764287). Knockout in a Polr2a 'R-1268' knockin mouse leads to growth retardation, skeletal abnormalities, cataracts, progressive motor neuron degeneration and death at 5-6 months (PubMed:32142649)
Deletion of the ratA-ratB operon has no effect on bacterial persistence on rich medium for this strain, but does affect bacterial persistence for E.coli strain CFT073
No effect on phosphate starvation responsiveness, due to the redundancy with PHR1
Cytokinesis-defective and seedling-lethal phenotype
Craniofacial cartilage and bone defects, characterized by shortening and hypoplastic nature of the cartilage elements and disruption of the posterior ceratobranchial cartilages (PubMed:30424580). Morpholino knockdown of kat2a and kat2b leads to impaired heart and limb development. Abnormal fin development is also observed (PubMed:29174768)
Abolishes the production of orsellinic acid, lecanoric acid and F-9775A/B (PubMed:19666480, PubMed:20174687)
No growth phenotype in phosphate-rich medium (3.6 mM Pi), in restricted medium (Sauton) grows better than wild-type but in phosphate-free Sauton medium dies faster than wild-type when pre-exposed to starvation
Mice fed a standard diet appear normal and healthy, and display no visible phenotype (PubMed:18417103, PubMed:19091748, PubMed:26071406). Mutant mice show reduced food intake when kept on a high-frucose diet and about 28% reduction of their body weight within seven days. They loose more weight than wild-type mice that receive similar amounts of high-fructose food (PubMed:19091748). Mutant mice show strongly decreased fructose absorption in the jejunum (PubMed:19091748, PubMed:26071406). Contrary to wild-type, mutant mice have a strongly distended colon and caecum when kept on a high-fructose diet. Their intestines look normal when they are fed a standard diet. Contrary to wild-type, mutant mice do not display increased fructose levels in blood serum when kept on a high-fructose diet. Contrary to wild-type, they do not show increased salt absorption in response to fructose, and do not develop high blood pressure in response to fructose feeding. On the contrary, the blood pressure of mutant mice is strongly decreased after five days on a high-fructose diet. Mutant mice develop hypovolemic shock and die after 7 to 10 days on high-fructose diet (PubMed:19091748). Mutant mice display no defects of cochlear morphology or any hearing defects (PubMed:18417103)
Single knockout mice are born normally and grow to adulthood without apparent abnormalities (PubMed:23882130). Decreased glucosylceramide beta-1,4-galactosyltransferase activity seen in the brain of female mice whereas minimal or no reduction in the enzyme activity seen in the male brain (PubMed:23882130). Double knockout mice of B4GALT5 and B4GALT6 genes develop normally during embryogenesis and perinatal stage (PubMed:30114188). However, they show growth retardation and motor deficits with hindlimb dysfunction at 2 weeks of age, and they all die by 4 weeks of age (PubMed:30114188). Axonal and myelin formation are remarkably impaired in the spinal cords and increased immature neurons in the cerebral cortices seen (PubMed:30114188). Glucosylceramide beta-1,4-galactosyltransferase activity and major brain gangliosides are completely absent in the brain (PubMed:30114188)
Disruption results in slower growth with ammonia, but does not affect growth under nitrogen-fixing conditions
Cells do not grow in normal air but do grow on 5% CO(2), called a high-CO(2) requiring phenotype, HCR; even at high CO(2) levels photosynthesis is less effective. Carboxyomes appear wild-type and contain RuBisCO but no longer have a HCO(3)- to CO(2) interconversion activity. Light-dependent CO(2) transport into the cell is unchanged
Mice are embryonic lethal. They show perinuclear clustering of mitochondria and impaired lysosomal dispersion
Reduced plant growth and early bolting. Elongated mitochondria and reduction of the number of mitochondria per cell
No visible phenotype under normal growth conditions, but mutant plants are insensitive to inhibition of root elongation by ethylene, resistant to the herbicide and anthranilate analog 6-methylanthranilate, resistant to growth inhibition by the tryptophan analog alpha-methyltryptophan and insensitive to feedback inhibition by tryptophan
Severely impaired epidermal barrier function with a significant reduction in the thickness of the granular and spinous layers of the epidermis (PubMed:35197565). Misoriented division of basal keratinocytes and significantly reduced proliferation rate of basal keratinocytes and suprabasal cells (PubMed:35197565). Ciliogenesis defects in multiple organs (PubMed:35301795). Retinal photoreceptor cilia numbers are greatly decreased, leading to defective vision, and there is also a decreased number of renal primary cilia as well as a reduced percentage of ciliated cells in the tracheal epithelium (PubMed:35301795). Impaired cardiac function (PubMed:35301795). Males are fertile but a significant proportion of spermatozoa are aberrant with no tails (PubMed:35301795)
Mice are smaller than their wild-type littermates and fail to thrive 14 days after birth
Accumulation of pentalenolactone D and lack of production of pentalenolactone as well as the precursors pentalenolactones E and F
Mice are born with abnormally small lenses with serious structural defects. Failure of lens vesicle separation and the resulting changes in cell organization causes lenses to herniate, leading to expulsion of lens fiber cells through a perforation in the cornea. Developing lenses show loss of cell apical-basal polarity, failure of the lens vesicle to separate from the surface ectoderm, failure to properly exit the cell cycle during fiber cell differentiation and incomplete terminal differentiation of fiber cells
Embryo lethal
Insertions in thiBPQ cause a defect in the transport of both thiamine and TPP
Enhanced susceptibility to virulent and avirulent bacterial pathogens P.syringae pv. tomato and pv. maculicola ES4326 with or without DC3000(avrPphB, avrRpt2, avrB, avrRpm1, or avrRps4) as well as to the oomycete pathogen Hyaloperonospora parasitica (downy mildew) isolates Emoy2, Hind4, Hiks1, Wela3, Cand5, and Wand1. Impaired hyper-sensitive response (HR) and systemic acquired resistance (SAR). Compromised salicylic acid glucosides (SAG) accumulation. Resistance is partially rescued by SA treatment
Deletion of this gene alone blocks maturation of pre-crRNA (PubMed:29979631). Deletion of the entire CRISPR-Cas locus (cas6 to cas2, Rv2824c to Rv2816c) decreases resistance to plasmids encoding spacer elements about 6-fold (PubMed:29979631)
Mice are viable and fertile but show a number of cerebellar abnormalities such as a delay in the Purkinje cell (PC) dendrites development and a disruption of late-born cortical neurons migration. Develope a prostate hyperplasia in epithelial compartment at 6 months of age. Show normal vasculature development but enhanced inflammatory angiogenesis
No aborted seed phenotype and normal production of seed sets
Slight decreased in growth rate
Growth rate decreased at 37 and 25 degrees Celsius, completely stopped at 3 degrees Celsius. No motility at 25 or 3 degrees Celsius (PubMed:22564273). Decreased growth in the presence of ethanol (PubMed:22820328)
No visible phenotype under normal growth conditions, but mutant plant roots have reduced density of secondary wall pits in metaxylem vessels
Cells lacking this gene show methionine prototrophy, suggesting that additional methionine biosynthetic pathway can be present in C.glutamicum. The mutant strains also completely lose their ability to show resistance to the S-(beta-aminoethyl)-cysteine, which is a toxic lysine analog
Accumulates pre-mRNA splicing intermediates
RNAi-mediated knockdown results in arrest due to elongation and morphogenesis defects at the embryonic or larval stages in 30% of offspring (PubMed:16920335). Furthermore, embryos have highly disorganized epithelial cells (PubMed:16920335). RNAi-mediated knockdown in adults results in mis-localized or missing body wall muscle cells (PubMed:16920335)
Morpholino knockdown of the protein results in profound anemia without affecting erythroid specification
RNAi-mediated knockdown does not result in detectable defects in histone H3 'Lys-4' di- or tri-methylation in embryos or adults germ cells at 20 or 25 degrees Celsius
No visible phenotype under normal growth conditions, but double mutant plants chr12 and chr23 are embryonic lethal
Larval lethal (PubMed:32269334). Larval development is delayed due to decreased food intake and reduced systematic insulin signaling (PubMed:32269334). However, escapers eventually attain a normal size during the pupal and adult stages (PubMed:32269334). Unlike in wild-type larvae, mutants do not develop a preference for zinc supplemented food or eat more when fed a zinc rich diet (PubMed:32269334). The copper cell region of the larval midgut displays developmental and functional defects such as reduced luminal acidity, increased bacterial titers and enlarged cell volume (PubMed:32269334). The interstitial cells also display increased cell volume due to reduced basal infolding (PubMed:32269334). They also display an increased tolerance to copper but not zinc, likely due to increased cell acidity which has been found to decrease copper uptake (PubMed:27172217). Postembryonic knockdown specifically in interstitial and Malpighian tubule principal cells also results in reduced food intake and increased time to pupation, whereas knockdown only in principal cells, iron cells or copper cells has no effect on larval development (PubMed:32269334). Mutants display a further increase in developmental delay in a Tor RNAi-mediated background (PubMed:32269334)
RNAi-mediated knockdown in the dorsal paired medial neurons impairs middle-term (MTM) and long-term memory (LTM), but has no effect on normal aversion learning and anesthesia-resistant memory (ARM) (PubMed:27629706). RNAi-mediated knockdown in all mushroom body neurons has no effect on learning, ARM and LTM (PubMed:27629706). However, simultaneous knockdown with Nep2 or Nep4 does impair LTM, and simultaneous knockdown with both Nep2 and Nep4 results in a further reduction in LTM formation (PubMed:27629706). Wild-type females mated to males that undergo RNAi-mediated knockdown, lay the same number of eggs and have a similar hatch rate to those mated to wild-type males (PubMed:24395329)
Homozygous mutant flies live to adulthood and are fertile and exhibit rough and irregular eyes. Flies have an aberrant R-cell rhabdomeres morphology and R-cell and cone cell nuclei are mispositioned
FAM65B morpholino knockdown leads to significant reduction of numbers of saccular hair cells and neuromasts and to hearing loss (PubMed:24958875). FAM65B knockdown also results in abnormal muscle, with low birefringence, tears at the myosepta, and increased embryo lethality (PubMed:24687993)
Deletion of the gene slows growth on minimal medium with ammonium as nitrogen source
Severely disrupts assembly and function of T2SS-beta
Mice infected with M.tuberculosis H37Rv mutants for Rv3404c present a highly significant increase in their survival time as compared with mice infected with the parental strain
No visible phenotype under normal growth conditions, but mutant plants show hypersensitive response to infection with the bacterial pathogen Xanthomonas campestris pv. vesicatoria containing the type III effector protein AvrBsT
Lethal
Mice display defective differentiation and morphogenesis of the limb muscles, characterized by an overall reduction in muscle mass and elimination of specific muscles (PubMed:10403250, PubMed:12925591). Embryos also display a cleft palate phenotype at 15.5 dpc (PubMed:16284941). Mice lacking Meox1 and Meox2 show extremely disrupted somite morphogenesis, patterning and differentiation (PubMed:12925591). They lack an axial skeleton and skeletal muscles are severely deficient (PubMed:12925591)
Mutations alter the permeability of the outer membrane resulting in increased sensitivity to detergents, antibiotics and dyes. Depletion leads to filamentation followed by membrane rupture and cell lysis
Leads to lipid accumulation and increased citrate production when biodiesel-derived waste glycerol is used as substrate
Probably essential; depletion experiments (by expressing antisense RNA) show smaller colonies are formed, while individual cells are elongated and/or filamented. Colonies are glossy and spherical, cells are less viable
Leads to reduced courtship levels toward females
No visible phenotype under standard growth phenotype. Decreased dinor-12-oxo-phytodienoic acid (dnOPDA) formation
Mice are born at the expected Mendelian rate and are fertile. They show leukopenia with reduced levels of circulating granulocytes and myeloid cells. They are highly susceptible to infections, causing a reduced life span. Mice do not exhibit normal apoptosis of hematopoietic stem cells after DNA damage due to irradiation. They do not exhibit normal apoptosis in response to FAS, TNF, TGFB1, interferons and ceramide, and show impaired activation of caspases in response to pro-apoptotic stimuli. Mice are highly susceptible to chemical carcinogens. Mice display accelerated revascularization after ischemia. Newborns have smaller brains with a reduced size of the brain cortex. Mice display aberrant learning and memory, lower levels of anxiety-like behavior and specific deficits in long-term plasticity. Mice display a compromised endogenous circadian clock with reduced precision and stability of the period length
Essential for growth. Spores germinate, but fail to divide
Depletion of TatCd results in a drastic reduction of TatAd
Animals have normal T-cell numbers in the lamina propria but the T(H)17 cells are reduced by about 10-fold (PubMed:16990136). They develop mature-onset obesity and have disturbed carbohydrate and lipid metabolism, increased leptin levels and decreased responsiveness to leptin treatment (PubMed:11786910). Animals have impaired liver regeneration characterized by liver necrosis and failure (PubMed:8910279). Mutants infected with influenza virus do not show a significant difference on germinal center B cells compared to wild-types (PubMed:23045607). Double knockouts for IL21 and IL6 infected with influenza virus show a significant reduction in germinal centers in both the draining lymphatic nodes and the spleens to wild-types. Animals show a significant reduction in virus-specific IgM and IgG (PubMed:23045607)
Reduced rosette size, twisted leaves, and abnormal and sterile flowers
Mutant mice display flattened nose and a smaller cerebellum. Behaviorally, mice show impaired spatial memory, as well as a marked anxiety phenotype and increased risk aversion (PubMed:26571461). Deletion leads to a significant dissociation of TET1 from chromatin and dysregulation of DNA hydroxymethylation of neuronal genes (PubMed:32286661)
Embryonic lethality when homozygous due to defective pollen tube growth and disruption of embryonic development
Loss of adult progeny and reduced male-female sex ratio
RNAi-mediated knockdown causes an accumulation in the proximal gonad of endomitotic mature oocytes in 30 percent of animals (PubMed:17326220). RNAi-mediated knockdown disrupts the assembly of actin into myofibrils, and furthermore reduces the co-localization of ketn-1 and actin in early embryos (PubMed:31411810)
Lethality at larval stage, L1. Surviving animals do not develop into fertile adults. Animals have abnormal sensory function with their bodies harboring lesions and signs of progressive degradation. Defective excretory canal formation with down-regulation of genes, including exc-5, ifb-1, gck-3 and aqp-8, involved in this process. Seventy percent of L1 larvae do not form excretory canals, but have a large vacuole around the excretory cell body. The remaining larvae form impaired excretory canals that rarely extend beyond the pharyngeal-intestinal valve and do not extend to the somatic gonad. Furthermore, some animals develop a cyst in the lumen of the excretory canal. RNAi-mediated knockdown in larvae largely results in arrest at the L1 larval stage. Surviving worms have altered excretory canal growth with a large vacuole and cyst in the excretory cell body and lumen, respectively, and the formation of a thin canal extension
Abscisic acid (ABA) hypersensitivity of stomatal movements and enhanced drought tolerance
Cells lacking this gene show a complete loss of PDC hydrolase activity and a growth defect on vanillic acid. Growth on syringic acid is not affected
Mutant cells exhibit a significantly increased flex rate. Deletion does not significantly affect virulence in needle-inoculated mice, but mutants display a reduced ability to survive in ticks and they are unable to complete the mouse-tick-mouse infection cycle
Decreased levels of tri- and dimethylated 'Lys-4' of histone H3 in the somatic cells in embryos and young adult animals (PubMed:21527717, PubMed:20555324). Increased dimethylated 'Lys-4' of histone H3 in primordial germ cells (PubMed:21527717). Decreased dimethylated 'Lys-4' of histone H3 in the distal region of the germline (PubMed:21527717). Reduced fertility (PubMed:21527717). RNAi-mediated knockdown results in the extension of lifespan (PubMed:20555324). Decreased levels of trimethylated 'Lys-4' of histone H3 in L3 stage larvae (PubMed:20555324). Leads to a deregulation of fat metabolism and to an accumulation of mono-unsaturated fatty acids in the intestine (PubMed:28379943)
Increases frequency of mitochondrial genome loss
RNAi-mediated knockdown results in defective formation of the distal end of the two M2 pharyngeal motor neurons
kdpFABCQ and kdpFABC deletion strains are only able to grow in the presence of K(+) concentrations above 60 uM
Not essential, doubling time increased slightly. About 800-fold less compentent for plasmid transformation, no effect on sporulation efficiency. Grows poorly at 18 degrees Celsius. Increased sensitivity to several translation inhibiting antibiotics such as tetracycline, erythromycin and chloramphenicol, but increased resistance to streptomycin and nalidixic acid. Forms long filamentous cells, probably due to defective septum formation, cell walls are altered with looser, less dense peptidoglycan. Double pnp-rny mutants grow very slowly, while pnp-rnjA mutants could not be isolated (PubMed:23504012). Accumulation of precursor forms of type I toxin-antitoxin system antitoxin RNAs SR4 and SR5 (PubMed:22229825, PubMed:26940229)
Impaired formation of the tetrasaccharide present at 'Asn-532' of S-layer glycoprotein Csg. No effect on 'Asn-47' and 'Asn-117' glycosylation of S-layer glycoprotein Csg
Cells lacking this gene lose the ability to utilize proline, ornithine, or arginine as sole carbon source and grow more slowly when proline or ornithine is utilized as sole nitrogen source in the presence of glucose. A double rocG-gudB disruption has the same phenotype as a single rocG disruption
Mutant is sensitive to gamma radiation and hypersensitive to desiccation. It shows delayed DNA double-strand break repair and delayed recovery of desiccated nucleoid
Mutants, shortly after birth, display significant reduced body size, reduced weight and shortened fifth metatarsals. They are subviable with about 45% of the expected number of mutant pups at P14. Surviving adult mice exhibit increased fat mass, reduced length and limb abnormalities. They also have reduced bone mineral content and density. Knockout mice show sexually dimorphic phenotypes, including changes in bone mineral content, bone mineral density and fifth metacarpal length that are only significant in females
Viable and fertile. Resistant to paralysis induced by treatment with acetylcholinesterase inhibitor aldicarb (but not with acetylcholine agonist levamisole). Hypersensitivity to aldicarb treatment is partially reduced in an egl-30(js126), goa-1(n1134) or gsa-1(ce94) mutant background
Embryonic lethality (PubMed:26868000). Embryos are apparently normal in blastocysts, but degenerate by E7.5 and display clear developmental defects at E8.5, suggesting that mutant embryos die after implantation (PubMed:26868000)
Plants show chlorosis, inhibition of photosynthesis, reduced growth rate and altered photosynthetic carbon partitioning in favor of starch
Impairs the production of paxilline (PubMed:23949005)
Cells exhibit an aberrant actin cytoskeleton and numerous F-actin-enriched microspikes. Cells aggregate poorly and aggregates arrest at the mound stage. They exhibit poor adhesion, form weak cell-cell agglomerates in suspension, do not polarize in chemoattractant gradient and move very poorly
Growth somewhat inhibited by chlorite
Mice display cataract an opacification of the lens
Does not grow in air but does grow in 2% CO(2), called a high-CO(2) requiring phenotype, hcr. Cells do not make carboxysomes (PubMed:25826651). Also absolutely required for carboxysome formation in E.coli (PubMed:33116131). Required for growth in ambient air (PubMed:31406332)
Growth retardation phenotype
Albino plants
Hypersensitive responses to ABA in both seed germination and root growth. Late-flowering. Increased germination rate and seedling growth under salt and dehydration stress. Impaired mRNA export under cold stress conditions. Defective in PAMP-triggered immunity (PTI) responses and high susceptibility to P.syringae and P.carotovorum SCC1 (Pec). Increased sensitivity to tobacco rattle virus (TRV) (PubMed:31812689). The triple mutant srbp1 srbp2 srbp3 is more susceptible to TRV (PubMed:31812689)
Impaired degradation of proteins with misfolded intramembrane or lumenal domains
Plants missing PP2C42/PP2C-D2, PP2C64/PP2C-D5, PP2C79/PP2C-D7, PP2C63/PP2C-D8 and PP2C68/PP2C-D9 exhibit an increased hypocotyl length, as well as an enhanced sensitivity to LiCl and media acidification
Abolishes the production of pseurotin (PubMed:24082142, PubMed:24939566)
Dwarf plants containing severely reduced levels of castasterone (CS) and brassinolide (BL) and of their precursor molecules
Death between 2 and 5 weeks of age. The mesencephalic GABAergic progenitors in these animals fail to develop into neurons
Leads to respiration deficiency
Developmental defects as well as reduced levels of endogenous trans-acting small interfering RNA (ta-siRNA)
Mutant animals experience severe respiratory distress and died within minutes after birth. At 18.5 dpc, lungs exhibit small alveolar spaces and thickened septa. The rib cage cartilage is hypocellular with abnormal, fibrous-appearing extracellular matrix. Animals show severe skeletal abnormalities, most notably in the longitudinal growth of bones formed by endochondral ossification. The length of the axial skeleton is reduced. The appendicular bones of the upper limbs, as well as the ilium, femur, tibia and fibula of the lower limbs are markedly shorter than in wild-type littermates. The rib cages display malformation characterized by reduced sternal length and correspondingly diminished rib spacing. The process of intramembranous ossification is normal. Mutant animals exhibit a deficiency in glycosaminoglycan sulfation. Mutant cartilage and lung exhibit a substantial decrease in chondroitin 4-sulfate and an increase in nonsulfated chondroitin compared with wild type tissue
Uqcc6 deficiency leads to complete loss of mitochondrial respiratory chain complex III, resulting in growth retardation and a mild increase in blood lactate levels and significantly decreased exercise tolerance. The subunits of mitochondrial respiratory chain complex I, II, IV, and V are not affected
Cells lacking this gene are inhibited by chromate to a greater extent than the wild-type
Embryonic lethal with few surviving larvae which fail to carry out the L3/L4 molt and few surviving adults which are sterile (PubMed:16111945, PubMed:21183797). At the L3 larval stage, accumulates vacuoles in intestine, hypodermis, pharynx and coelomocytes (PubMed:21183797). Abnormal accumulation of mig-14, lmp-1, and rab-7 on these vacuoles (PubMed:21183797). Mislocalization of several components of the retromer complex, including rme-8, snx-1 and vps-35 (PubMed:21183797). Impaired fluid phase endocytosis in coelomocytes (PubMed:21183797). Double knockout with either sorf-1 or sorf-2 results in smaller endosomes and an irregular distribution pattern of PtdIns3P in the cytoplasm (PubMed:26783301). RNAi-mediated knockdown results in reduced stem cell proliferation in the germline during larval development (PubMed:28285998). RNAi-mediated knockdown at the L4 larval stage causes a slight decrease in lifespan and multiple defects in the progeny which fails to produce viable embryos (PubMed:12958363, PubMed:16111945, PubMed:17204841). In addition, causes an increase in the number of apoptotic cell corpses at various embryonic stages and in the gonads (PubMed:16111945, PubMed:21183797). Reduces phosphatidylinositol 3-phosphate levels on intracellular membrane vesicles and impairs endocytosis (PubMed:16111945, PubMed:21183797). Prevents necrotic cell death of CEP and ADE dopamin neurons induced by neurotoxin 6-hydroxidopamine (PubMed:17327275). Impaired survival when exposed to pathogenic bacteria S.typhimurium which is associated with the persistence of intact bacteria-containing vesicles in intestinal cells, the formation of few autophagosomes and autolysosomes followed by a progressive destruction of intestinal cells (PubMed:19667176). In addition, causes a reduction in mig-14 and rme-8 association with puncta structures as well as an increase in mig-14 protein levels (PubMed:21183797). RNAi-mediated knockdown causes abnormalities in constitutive dauer formation in daf-2 e1370 mutant including uneven distribution of hyperpigmented granules in the intestine and a reduction in fat storage and radial constriction elongation of the body and the pharynx (PubMed:12958363). In addition, prevents increase in lifespan and the formation of autophagosomes in lateral hypodermal seam cells in daf-2 e1370 mutant (PubMed:12958363, PubMed:19667176). Reduces the number of vacuolated (dying) touch receptor neurons and restores touch sensitivity in mec-4 u231, deg-1 u506 or deg-3 u662 mutants (PubMed:17327275)
Disruption does not attenuate growth in macrophages
Leads to complete loss of both 3-keto reductase and oxidosqualene cyclase (performed by ERG7) activities, compromising all sterol synthesis
Significant reduction in pathogenicity on the host plants. Mutants develop penetration hyphae into cellophane, suggesting that appressoria of the mutants retain basic function for penetration. However, they fail to develop intracellular penetration hyphae into epidermis of the host plants
Increases susceptibility towards the chitin/beta-glucan-microfibril destabilizing compounds Congo red and calcofluor white
Worms are defective in chemotaxis to the volatile odorants diacetyl and pyrazine and weakly defective in chemotaxis to 2,4,5-trimethylthiazole, but respond normally to the odorants benzaldehyde, butanone, and isoamyl alcohol
Impairs atg8-processing
Misregulation of photosynthesis-associated nuclear gene expression in response to excess light, and inhibition of photosynthetic electron transport (PubMed:22211401, PubMed:25161659). Defects in embryo development (PubMed:25161659). Dwarf pale plants (PubMed:22211401, PubMed:25161659). The csp41b-2 prin2-2 double mutant is embryo lethal (PubMed:25161659)
Deletion has only minimal effects
Abolishes the production of UCS1025A
Decreases basal endo-1,3-beta-glucanase activity (PubMed:19542306). Cells do not separate normally after cytokinesis resulting in chained cells (PubMed:18466295)
Impairs pulcherrimin production and subsequent red pigmentation
Does not affect the virulence in a murine model of invasive aspergillosis (PubMed:15504822). Displays an 8-fold increase in external siderophore triacetylfusarinine C (TAFC) production after 12h of growth in iron-depleted conditions (PubMed:15504822)
Does not lead to any phenotypic changes
Larger PYK10 complexes
Does not alter fusaric acid production (PubMed:25372119)
Deletion mutant shows no obvious phenotype, but absence of the protein aggravates the division defect in ftsN or dedD mutants
Pale interveinal phenotype due to marked reduction in the density of mesophyll cells in interveinal regions of leaves (PubMed:12848826, PubMed:16873448). Increased sensitivity to ozone and a virulent strain of the bacterial pathogen Pseudomonas syringae pv. maculicola (PubMed:12848826)
Morpholino knockdown in single-cell embryos does not lead to gross anatomical defects, but causes subtle defects in the migration of neural crest cells, so that cells populate also the pharyngeal pouch, instead of being restricted to pharyngeal arches
RNAi-mediated knockdown of the protein causes reduced swimming motility and velocity. Display a reduction in the cilia beating frequency and an altered cilia waveform. Show absence of the outer and inner dynein arms
Delayed flowering mediated by FLC under both long-day and short-day conditions, but normal response to vernalization treatment. Abnormal alternative polyadenylation-dependent FCA expression profile of the known transcripts (PubMed:18298670). Global differentially processed (DPG) and differentially expressed (DEG) stress-associated genes due to alternative polyadenylation, splicing or transcription initiation (PubMed:21364912)
Lethality within an hour of birth, possibly caused by rib defects that lead to respiratory distress (PubMed:8955271). At birth, neonates display obvious caudal agenesis with tails that are shortened and curled (PubMed:8955271). They also lack the normal cervical flexure of the vertebral column, and their hindlimbs are curved towards the midline (PubMed:8955271). Neonates also display low-set ears, a thickened neck and loose skin (PubMed:8955271). Defects are caused by impaired formation of somites: cells from the paraxial mesoderm are unable to form epithelia, preventing formation of somites (PubMed:8955271). In the absence of normal somites, the axial skeleton and skeletal muscle form but are improperly patterned (PubMed:8955271). Hematopoietic stem cells (HSCs) show a specific loss of quiescent stem cells (PubMed:32669716)
Mutants have normal body morphology, but with reduced body length and width, delayed larval development and decreased roaming movements (PubMed:22022287). May exhibit defective chemotaxis tendencies (PubMed:15231740). Defective sensory cilia structure and function (PubMed:15231740, PubMed:22022287). This is characterized by increased accumulation and mislocalization of intraflagellar transport proteins and impaired movement of intraflagellar transport proteins such as rab-28 along the ciliary axoneme (PubMed:15231740, PubMed:27930654). Disrupted assembly of the BBSome complex at the base of the cilia (PubMed:22922713). Impaired localization of the guanylyl cyclase proteins, gcy-8, gcy-18 and gcy-23, within AFD sensory neurons, with accumulation along the dendrite as well as in the finger compartment of AFD neurons (PubMed:25335890). Thermotaxis defects and impaired tendencies to migrate to a food source (PubMed:25335890)
Stunted plants. Impaired root growth and smaller root meristem
No visible phenotype. Tic20-I and tic20-IV double mutant is embryo lethal
Impairs the ability to produce oxalic acid, to colonize the host tissue, and to form sclerotia (PubMed:25625818)
Disruption of the gene results in CoA auxotrophy
Leads to filamentous growth and abolishes mating and gall induction (PubMed:20064064). In culture, produces abundant thick-walled, highly pigmented cells resembling teliospores which are normally produced only in planta (PubMed:20064064, PubMed:25208341)
The prostate shows a severely altered ductal pattern that resembles primitive epithelial cords surrounded by thick stromal layers; no differentiated or mature luminal epithelial cells are found. Dehydration and electrolyte imbalance, development of mild nephrogenic diabetes insipidus. Severe hypoglycemia due to at least in part diminished expression of GCG. Mice deficient for Fox1a and deficient for Foxa2 in the endoderm from 8.5 dpc onwards do not show hepatic bud formation. Mice deficient for Fox1a and deficient for Foxa2 in the midbrain from 10.5 dpc onwards show almost complete loss of mDA neurons. Mice deficient for Fox1a and deficient for Foxa2 in the embryonic liver show hyperplasia of the biliary tree due to at least in part activation of IL-6 expression, a proliferative signal for cholangiocytes
Impaired structure and function of sensory cilia on amphid neurons. Strongly reduced length of the sensory cilium on the ASER neuron. Contrary to wild-type cilia that display the canonical ring of nine doublet microtubule bundles surrounding central singlet microtubules in the proximal and middle part, cilia from mutant nematodes have poorly defined microtubule organization at the cilium proximal end, and no visible microtubules at their distal ends
RNAi-mediated knockdown severely reduces adult survival following the ingestion of E.carotovora. Abolishes Cad99C-dependent formation of endosomes and DUOX-dependent up-regulation of reactive oxygen species (ROS) in the intestines of adults fed bacteria-derived uracil
Defects are the cause of the lok phenotype, a phenotype related to primary ciliary dyskinesia (PCD). PCD is characterized by curly-tail down phenotype, laterality defects and pronephric cysts, but without defects in sensory cilia and without the presence of hydrocephalus
Leads to a significant decrease but not complete loss of fumiquinazoline C production and accumulates fumiquinazoline A (PubMed:24612080)
Unable to grow with ethanolamine (EA) as sole carbon source. Slightly attenuated in a mouse model of infection (PubMed:7868611). Not required for aerobic growth on EA supplemented with cobalamin (vitamin B12). A double eutJ-eutG deletion is not required for growth on EA supplemented with vitamin B12 (PubMed:10464203). A non-polar deletion mutant grows on EA at pH 5.5 to pH 7.0 but not at pH 8.0 or pH 8.5, releases increased amounts of acetaldehyde on EA plus vitamin B12. Preventing acetaldehyde vapor loss allow growth up to pH 8.5 (PubMed:16585748)
Leads to the accumulation of the intermediate N-5-trans-anhydromevalonyl-N-5-hydroxyornithine (trans-AMHO), displays sensitivity to oxidative stress and shows deficiencies in both polarized hyphal growth and sporulation (PubMed:23658520). Changes its interaction with the plant Lolium perenne from mutually beneficial to antagonistic (PubMed:23658520)
Plants show postgenital fusion between aerial organs and severe male sterility in low-humidity environments. Altered cuticular waxes, but no effect on cutin load and composition
In mutant flies, axons from R7 photoreceptor cells in the eye fail to reach their normal target in brain medulla layer M6, but instead target layer M3. This leads to defects in synaptic signal transmission. Differentiation of photoreceptors is not affected
No visible phenotype at the levels of the whole plant or chloroplast ultrastructure; due to the redundancy with PORB. Porb and porc double mutants have a seedling-lethal pale-yellow xantha phenotype at the cotyledon stage, contain only small amounts of Chla, and possess chloroplasts with mostly unstacked thylakoid membranes
ATG16L2-deficient mice are viable and born at Mendelian proportions. Deficient mice exhibit intact canonical autophagy
Deficient mice show glucose intolerance, hyperinsulinemia and display insulin (INS) resistance and a reduced preference for fatty acids (PubMed:22343897, PubMed:24742677, PubMed:20573884). When fed a high-fat diet, they develop obesity and have fatty liver with decreased adipocyte differentiation and lipogenesis, and enhanced hepatic lipogenesis (PubMed:22343897). INS resistance in such mice is associated with reduced INS signaling and enhanced inflammation in adipose tissue (PubMed:20813258)
Not essential for growth; loss of trans-translation (PubMed:11395451). Significantly decreased growth at 16 and 52 degrees Celsius (PubMed:17369301)
Defective egg-laying with mutants retaining 35 eggs compared to 13-14 eggs in wild-type worms (PubMed:28213524, PubMed:28968387). Reduced serotonin levels, increased levels of the serotonin metabolite 5-hydroxyindoleacetic acid, increased levels of amine oxidase amx-2 in early adult stages and reduced levels of phosphorylated amx-2 (PubMed:28213524). Defective locomotion and reduced body length (PubMed:28968387)
Mice appear healthy for at least 1 year and display normal histological features in the gut. They however show defects in intestinal gene expression with a dysregulation of the scavenger receptor Scarb1
Leads to a severe growth defect in copper deficiency conditions, but does not significantly affect melanin production, nor fungal virulence (PubMed:21819456, PubMed:25417972). However, when both CTR1 and CTR4 are disrupted, the colonization in the brain and subsequent virulence are significantly reduced (PubMed:25417972)
Complete embryonic lethality at around 5.5 dpc
Cells lacking this gene strongly overproduce the GlmS protein
No visible phenotype under normal growth conditions, but mutant plants cannot grow on medium with urea as the sole source of nitrogen
Show fetal growth impairment and reduced vascularization in the placenta; majority of pups died within 10 days
No visible phenotype under normal growth conditions, but mutant plants exhibit increased susceptibility to the soil-born fungal pathogen Verticillium longisporum
Significantly reduced growth on medium amended with BOA or 6-methoxy-2-benzoxazolinone (MBOA) and no growth on 2-aminophenol (2-AP) (PubMed:25727347). Leads to the accumulation of 2-amino-3H-phenoxazin-3-one (2-APO), a compound resulting from spontaneous oxidation of 2-AP, when grown on BOA-amended medium (PubMed:25727347). Results also in reduced virulence (PubMed:25727347)
Disruption of the gene in peptide-rich medium and exponentially growing cells significantly increases expression of over 30 genes (PubMed:16040604). Repression of oppD by regulatory BCAAs is completely removed in codY mutant (PubMed:11401725)
Early flowering phenotype under long day conditions
Sporulation defects. Defects in proper coat localization around the forespore, but not in cortex formation
Delayed root growth when grown in high-concentration 1/2 MS agar culture medium; in these conditions, roots are wider and exhibit anomalies, such as swollen and irregular cells in the root transition and elongation zones (PubMed:35637390). Slower secretion in the root cap peripheral cells resulting in a significantly reduced monosaccharides content in the culture medium (PubMed:35637390)
Mice have normal brain morphology, but female have strong locomotor deficits in open field, due to a greater fear of new environments
Altered circadian dynamics of stomatal aperture (PubMed:32064655). Promoted seed germination (PubMed:33811388). Increased susceptibility to Botrytis cinerea (PubMed:34234798)
Inactivation leads to the attenuation of the recombinant strain, in spite of strong EsxA (ESAT-6) secretion and generation of specific T-cell responses. Mutant has lower amounts of PPE68
Mutants show a strong decrease in the rate of glycine betaine uptake. Mutation does not significantly affect cryoprotection or virulence of the organism, probably due to the presence of other glycine betaine/carnitine transporters in the cell
PREPL-null mice are significantly shorter and lighter than their wild-type littermates and suffer from neonatal hypotonia
Increases the susceptibility to the imidazole antifungal drugs tioconazole, miconazole, clotrimazole and ketoconazole; to the triazole fluconazole; but not to the antifungals flucytosine or amphotericin B (PubMed:24576949, PubMed:27148215)
Embryonic lethality between embryonic day 17.5 dpc and birth (PubMed:23154982). Conditional knockout mice lacking Larp7 in germline cells show defects in spermatogenesis: males are sterile, whereas all females display normal fertility (PubMed:32017896). Cells show reduced 2'-O-methylation of U6 snRNAs and defects in mRNA splicing (PubMed:32017896)
Mice display profound growth retardation with a communicating form of hydrocephalus, nasal inflammation and early mortality
RNAi-mediated knockdown results in dysregulated glycolysis and lipogenesis, and is pupal lethal (PubMed:35011691). RNAi-mediated knockdown causes the incorrect acidification of lysosomes leading to dysfunctional lysosome-autophagosome fusion and consequently, blocks autophagy flux (PubMed:35011691). RNAi-mediated knockdown results in a significant increase in the number and size of lysosomes in the brain (PubMed:35011691). Expression levels of genes involved in glycolysis (Pfk, Tpi and Ldh) and lipogenesis (ACC) are increased (PubMed:35011691). Conditional RNAi-mediated knockdown causes developmental defects leading to premature death at different stages, depending on the tissue and on the extent of the expression reduction (PubMed:35011691). RNAi-mediated knockdown in muscles results in complete lethality at the pupal stage, knockdown in glial cells results in partial lethality at the pupal stage (about 73% of flies reach the adult stage), whereas knockdown in neurons is not lethal (PubMed:35011691). Conditional RNAi-mediated knockdown in the muscles results in a significant increase in the number and size of lysosomes in the muscles (PubMed:35011691). RNAi-mediated knockdown in glial cells and also in neurons, causes an age-dependent climbing decline and increases adult lifespan (PubMed:35011691)
When both copies of this protein are deleted cells have no magnetic response and no magnetosome membranes. Deletion of just amb0974 leads to an intermediate magnetic response and still makes magnetosome membranes (PubMed:20212111). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
Cells lacking this gene sporulate normally in spo0F mutants
Embryonic and pupal lethal. Male mutants show small testes and degenerating spermatocytes with a large accumulation of small fat-containing vesicles in the cytoplasm and almost no mitochondria. Null mutant photoreceptors fail to differentiate normally, are unable to form proper rhabdomeres and present smaller mitochondria with fewer, but swollen crestae, than wild-type cells
Pollen lethality in plants lacking both MAP3KE1 and MAP3KE2, associated with plasma membrane irregularities following pollen mitosis I (PubMed:16965555). Smaller plants with shorter roots due to reduced cell elongation in roots and reduced cell expansion in rosette leaves, as well as embryos arrest in the early stages of development (PubMed:23087695)
Embryonic lethality in sus-1 mutant. Weaker mutant (caf-1) also exists. Mutant caf-1 produces extra whorls of stamens, indefinite number of carpels and show an absence of axillary inflorescence meristems and abnormally shaped leaves and floral organs
Shade avoidance phenotype in the absence of shade and enhanced growth of the bacterial pathogen P.syringae pv. tomato DC3000 (avirulent avrRpt2 strain). The constitutive shade avoidance phenotype can be rescued by RPS4, a TIR-NBS-LRR protein that confers resistance against bacterium Pseudomonas syringae
Most mutants die as pupae. They have increased VLCFA, loss of vision and have glial loss and reduced neuronal survival
Loss of conversion of vanillin to vanillic acid (PubMed:26658822)
Blocks the expression of the elsinochrome cluster genes RDT1, TSF1, PRF1 and ECT1 (PubMed:18957608). Abrogates elsinochrome production, drastically reduces conidiation, and significantly decreases lesion formation on rough lemon leaves (PubMed:18321192)
Defective sex myoblast migration (PubMed:9073451). Motor neuron axon guidance defects with aberrant axon branching in type D motor neurons (PubMed:12783787)
Deletion of the gene does not affect the growth rate but causes total attenuation of the pathogen in a mouse model of bubonic plague (PubMed:21611119). Deletion mutant is not able to secrete the virulence-associated V antigen (LcrV) and is attenuated in a subcutaneous model of plague (PubMed:22537022)
Plants do not show visible phenotype, but a decreased iron and nicotianamine content in seeds resulting in a transient defect in germination
Defective activation of the ribosome quality control (RQC) pathway
Cells grow to a higher cell density than wild-type cells. They also produce large aggregates with delayed anterior tip formation indicating a role in the development of the anterior prestalk cell region
Lack of phylloquinone and seedling lethal
Mice appear normal, but display loss of activation of NF-kappa-B in response to IL-1 or IL-18. They show no increase in interferon gamma production or in stimulation of natural killer cell activity in response to IL-18. They are impaired in production of cytokines in response to IL-1. They have defects in pro-inflammatory gene expression and leukocyte recruitment after brain injury. Mice have a diminished capacity to kill L.monocytogenes in the lumen of the distal small intestine and express markedly diminished levels of REG3G
No visible phenotype under normal growth conditions, but the double mutants camt2 and camt3 exhibit dwarf phenotypes
No visible phenotype under normal growth conditions, but the double mutants lof1 and lof2 exhibit enhanced phenotypes relative to lof1
Complete lethality during early embryonic development. Heterozygous mice are viable and show no obvious morphological or behavorial phenotype. Heterozygous mice that are kept on a normal diet show normal weight gain, normal glucose tolerance and insulin sensitivity. In contrast, mice exhibit a striking reduction in weight gain relative to wild-type, when kept on a high-fat diet. This is due to reduced fat accumulation in the liver and in subcutaneous white adipose tissue. In addition, heterozygous mice kept on a high-fat diet show higher glucose tolerance and higher insulin sensitivity than wild-type. The reduced weight gain is explained by reduced food intake, less efficient nutrient assimilation in the intestine and increased oxygen consumption when kept on a high-fat diet. Besides, heterozygous mice fail to respond to a high-fat diet by up-regulation of genes involved in lipid metabolism
Knockout endothelial cells have increased basal endothelial NO synthase (eNOS) activity (PubMed:20610415). Abnormally low resting mean arterial pressure (MAP), systolic blood pressure (SBP), and diastolic blood pressure (DBP) (PubMed:20610415). Endothelin receptors EDNRA and EDNRB are significantly decreased in blood vessels (PubMed:20610415). Suppresses hypoxia-mediated increase in right-ventricle maximum systolic pressure and pulmonary arterial thickening (PubMed:27742621). Suppresses hypoxia-mediated induction of pulmonary endothelin EDN1 and endothelin receptor EDNRA (PubMed:27742621). Abolishes age-associated induction of arterial THBS1 mRNA (PubMed:32679764). Increased proliferation and migration of arterial endothelial cells and enhanced sprouting angiogenesis (PubMed:32679764). Increased expression of matrix metalloproteinases MMP2 and MMP9 in endothelial cells from aged mice (at protein level) (PubMed:32679764). Improved glucose tolerance and insulin sensitivity in aged individuals by comparison with age-matched controls (PubMed:32679764). Enhanced survival of full-thickness skin grafts, with increased numbers of functional vessels in wound beds (PubMed:18156939). Increased mRNA levels for POU5F1/Oct4, SOX2, MYC/c-Myc, KLF4 and NES/Nestin; significant up-regulation in spleen; moderately increased expression in lung, except for KLF4 (PubMed:23591719)
Leads to a depletion of most chrysogine-related metabolites with accumulation of only 2-(2-aminopropanamido)benzoic acid, 2-(2-(2-carboxyacetamido)propanamido)benzoic acid and 2-(2-((4-amino-1-carboxy-4-oxobutyl)amino)propanamido)benzoic acid (PubMed:29196288)
Not essential, it can be deleted
Loss of processing of 23S rRNA. Full complementation requires both lep and rnc genes, suggesting they form an operon
Impairs the resistance to voriconazole and decreases the resistance to itraconazole of the azole-resistant strain TIMM20092
Leads to avirulence in a mouse model of invasive aspergillosis (PubMed:22028661). Results in severe defects in the expression of multiple virulence-related traits, including reduced thermotolerance, decreased nutritional versatility, impaired growth under hypoxia, altered cell wall and membrane composition, and increased susceptibility to azole antifungals (PubMed:22028661)
Has a 3- to 5-fold increase in levels of intracellular methylglyoxal compared with wild-type cells grown in the same media
Reduces the production of PR-toxin and leads to a large increase in mycophenolic acid production
Plants do not display apparent morphological variations, but are sensitive to the DNA-damaging agent MMS
Lethal due to mitochondrial dysfunction. 3 days after egg laying (ael) larvae display a severe decrease in size and a significant increase in mitochondrial mRNA steady-state levels which results in larval lethality by 4 days ael. RNAi-mediated knockdown is pupal lethal. Larvae display significant increases in mitochondrial mRNA and anti-sense RNA steady-state levels but rRNA (12S and 16S) steady-state levels and de novo transcription are not affected. Larvae also display severe decreases in mitochondrial tRNA steady state levels and accumulation of unprocessed precursor transcripts. These defects result in a general decrease in mitochondrial translation and severe decreases in the activity of respiratory chain complexes I, I+III, II+III and IV, whereas the nuclear encoded complex II displays a relatively small decrease. Also displays a small decrease in the peptide steady-state levels of the mitochondrial encoded subunit cox3 and the nuclear encoded subunit ND-30
Essential, it cannot be disrupted
RNAi-mediated knockdown causes morphological defects in excretory duct cells. Reduces expression of transcription factor lin-48
RNAi-mediated knockdown of isoform a results in mis-localization of par-6 in embryos
Viable (PubMed:18000549, PubMed:22022271). The legs of some adults have the correct number of segments but are bent between the tibia and tarsus, causing the leg to twist in the wrong direction (PubMed:21158756). Formation of ectopic bristles on the heminota (PubMed:18000549). Slight decrease in the branch length of NMJ3 and a reduced number of boutons at NMJ3 and NMJ4 (PubMed:24662564). In larvae, tracheal cell morphology is normal and basal expression levels of the AMP gene Drs are unaffected (PubMed:22022271). However after infection with Gram-negative bacteria, the respiratory epithelium displays an over-active immune response with a greater increase in expression of AMPs (Drs, Dro and AttC) compared to wild-type larvae (PubMed:22022271). In adults, no effect on the immune response to septic injury using a mixture of Gram-positive and Gram-negative bacteria; adults are able induce expression of antibacterial peptide genes (Drs, AttA, DptA and Mtk) and mount a proper innate immune response (PubMed:21158756). No visible effect on the development of the embryo central nervous system (PubMed:21158756)
Enhanced E2f1-induced apoptosis
Embryos display a small head with smaller eyes than normal and fewer cartilages in the branchial arches. Marked increase in cell death in brain (PubMed:19393221). Incomplete epiboly at gastrulation, characterized by blastopore closure defects and impaired axis formation (PubMed:21687713)
No visible phenotype. Embryo lethal when associated with disruption mutants SUN3 and SUN5
Mice lacking all but one V1ra and V1rb gene (12% of the V1r repertoire) show a lack of chemosensory response to a subset of known pheromonal ligands and changes in maternal aggression as well as male reproductive behavior
Dwarf, narrow leaf and low tillering phenotypes
Mutant exhibits altered transcriptional control of the riboflavin biosynthesis operon in response to riboflavin and FMN, and does not consume riboflavin from the growth medium
No visible phenotype in the double mutant ptpmt1-1 ptpmt2-1 (PubMed:29476828). But plants lacking PTPMT1, PTPMT2 and PGPP1 have strongly shorter roots associated with a defective order of columella cells in the root apices, with stronger effect than in the single mutant pgpp1-1 (PubMed:29476828)
Exhibits significant reduction in initial rate of phagocytosis. MyoB and myoC double mutant exhibits profound defects in growth, endocytosis and rearrangement of F-actin. myoB, myoC and myoD triple mutant exhibits reduction in the speed of whole cell translocation
Shorter roots due to increased sensitivity to excess zinc ions (Zn) and iron ions (Fe) deficiency, respectively (PubMed:18088336). Reduced production of root-derived phenolics upon iron ions (Fe) depletion (PubMed:25138267). Plants lacking myb10 and myb72 fail to induce transcript accumulation of the nicotianamine synthase genes NAS4 and NAS2 in iron ions (Fe) deficiency, and exhibits nickel (Ni) and zinc (Zn) sensitivity (PubMed:24278034). Impaired P.fluorescens WCS417r- and T.asperellum T34- mediated broad-spectrum induced systemic resistance (ISR) against the pathogens P.syringae pv tomato, H.parasitica, A.brassicicola, P.cucumerina and B.cinerea and characterized by blocked priming of enhanced callose deposition (PubMed:18218967, PubMed:19121118). Misregulation of several genes (e.g. BGLU42) triggered by P.fluorescens WCS417r upon ISR (PubMed:25138267)
Mice display defects in mesendoderm morphogenesis and patterning during development. Embryos show a marked thickening of the primitive streak. By the early somite stage, embryonic development is arrested, with the formation of abnormal head folds, foreshortened body axis, absence of heart tube and gut, deficient paraxial mesoderm, and an enlarged midline tissue mass that replaces the notochord. Development of extra-embryonic structures is generally normal except that the allantois is often disproportionately large for the size of the mutant embryo
Leads to reduced virulence (PubMed:24064149)
Disruption of this gene increases copper sensitivity, induces stress response genes in biofilms, increases aggregation and cell surface hydrophobicity, and decreases indole synthesis
No visible phenotype, due to the redundancy with HAM1. Ham1 and ham2 double mutants are lethal
Increased root growth and lateral root initiation
Deletion of this gene leads to a strong resistance to ETH, ISO and TAC
Cells are very sensitive to UV light
Enhanced sensitivity to the methylating agent methylmethanesulphonate (MMS) leading to abnormal seedlings in presence of MMS
No visible phenotype under normal growth conditions, but plants lacking LPXK accumulate high levels of disaccharide-1-phosphate (DS-1-P)
Displays increased levels of spontaneous RAD52 foci in proliferating diploid cells
Low levels of aliphatic glucosinolates
Morpholino knockdown of the protein causes neurodevelopmental abnormalities associated with decreased survival rate. Morphants are characterized by microcephaly, brain hyperexcitability and lower seizure threshold
Much less SpA is released from the cell wall
Embryonic lethal
Aberrant synaptic connectivity of dorsal and ventral D-type motor neurons onto ventral and dorsal muscle
Mutants have a wild-type piliation phenotype but are deficient in transformation
Third instar larvae display adherent perinuclear redistribution of lysosomes, autolysosomes and autophagosomes in the fat body
RNAi-mediated knockdown causes hypodermal or cuticular rupture, typically in the anterior body region (PubMed:24569038). Dumpy body shape (PubMed:24569038). Defects in cuticle integrity (PubMed:24569038)
Cells display no detectable hydrolysis of the thioester and no trace of DMB-S-MPA
Inactivation of the gene abolishes Cm, Um and Am formation in tRNA. Mutant has increased sensitivity to hydrogen peroxide (H(2)O(2)), with reduced expression of oxyR-recG, katB-ankB, and katE
Essential, a deletion mutant cannot be isolated. TrxB depletion inhibits mycobacterial growth and causes lytic death of the cells. Depletion affects growth-essential processes, including sulfur and DNA metabolism. Partially depleted cells are highly susceptible to thiol-specific oxidizing stress, but not to peroxide and reactive nitrogen species. Depleted cells are highly susceptible to the cell wall biosynthesis inhibitors vancomycin and moenomycin. In vivo, depletion of TrxB results in clearance of M.tuberculosis during both the acute and chronic phases of infection
No visible phenotype under normal growth conditions, but the triple mutant plants hulk1, hulk2 and hulk3 show delayed flowering
Death around 10.5 dpc due to multiple defects in vascular system development. In addition, they exhibit a delayed development of their cephalic region
Abolishes the production of acurin A
No effect on CRISPR interference during plasmid transformation
Auxotrophic for tryptophan
Cells having transposon insertions in this gene are hypermotile
Plants show increased root elongation in blue light (PubMed:16703358, PubMed:21511872). Reduced attenuating effect of high fluence rates of blue light in the cry1 cry2 double mutant. Slow rate of curvature at low fluence rates of blue light in cry1 cry2 (PubMed:12857830). The double mutant cry1 cry2 exhibits a reduced impact of near-null magnetic field on flowering in lower blue light intensity and short days (PubMed:26095447). Little detectable phenotype on circadian clock in blue light (BL). The double mutant cry1 cry2 is impaired in blue light signaling, resulting in long-period, lower-amplitude oscillations at 12 and 17 degrees Celsius and completely abolishing rhythms at 27 degrees Celsius (PubMed:23511208). Reduced hyponastic growth (differential growth-driven upward leaf movement) in low blue light fluence (PubMed:19558423). The double mutant cry1 cry2 is hyposensitive to the strigolactone analog GR24 (PubMed:24126495). The mutant cry2 exposed to a background of red light show severely impaired stomatal opening responses to blue light. The double mutant cry1 cry2 has reduced stomatal conductance, transpiration, and photosynthesis, particularly under the high irradiance of full sunlight at midday, associated with elevated abscisic acid levels (PubMed:22147516). Mutation sel20 suppresses the inhibitory effect of continuous light (LL) on the hypocotyl elongation of elf3-1. The double mutant elf3 sel20 exhibits a late-flowering phenotype (PubMed:21296763). Impaired chromatin decondensation during the floral transition and in low light conditions (PubMed:20935177). Increased sensitivity to turnip crinkle virus (TCV) and associated with reduced HRT levels and stability, and characterized by hypersensitive response (HR) symptoms (PubMed:20624951)
No F pili expressed on cell surface
Deletion of dncV incrementally, but significantly, enhances swimming and swarming motility compared to the ECOR31 wild-type. It also enhances biofilm formation on abiotic surfaces after 48 hours of development
RNAi-mediated knockdown results in an egg-laying defect and vulval cell-lineage defects including failed division of vulval precursor cell descendents (PubMed:20005870). RNAi-mediated knockdown causes a decrease in expression of lin-39 at the larval L3 stage (PubMed:24885717). Knockdown in L1 stage larvae, in a lin-39 mutant background, causes abnormal fusion of vulval precursor cells at larval stage L2 (PubMed:24885717)
Reduces the production of ergosterol (PubMed:30874562). Leads to increased sensitivity to azole compounds, but not to iprodione and fludioxonil that target the high osmolarity glycerol (HOG) pathway (PubMed:30874562)
Initially shown to have a 5-6 hour lag phase when grown in human urine, bacteria are initially rounded and swollen but are close to wild-type in morphology by 24 hours and to be more competitive than wild-type in mouse infection (PubMed:12823810). The wild-type (wt) control was later shown to have an amber mutation in rpoS; when the dsdA gene is disrupted in a strain wt for rpoS a growth defect in human urine, lack of growth on minimal medium with D-serine and no difference in growth in a mouse infection model was seen (PubMed:26366567). Single deletion, grows on D-alanine but not D-serine or D-serine plus glycerol (PubMed:16952954)
Attenuation of cryptococcal growth in a mouse model of infection due to defects in capsule polysaccharide content. The general morphology of the capsule is normal but two main capsule polysaccharides, glucuronoxylomannan (GXM) and galactoxylomannan (GalXM), lack beta-1,2-xylose residues
A double kdnA/kdnB deletion mutant shows increased sensitivity to polymyxin B and bile salts
Leads to abnormally shaped phialides and abolishes production of conidia (PubMed:24039821)
Abolishes the production of arthrobotrisins A to D, and leads to the accumulation of a pair of epimers without the characteristic epoxy core (PubMed:33823587). Shows substantial reduction in conidiation (PubMed:33823587). Shows significantly increased ammonia levels in fungal mycelia (PubMed:33823587)
Period lengthening of various circadian output rhythms and affected central clock gene expression (PubMed:27837007). Derepressed expression of circadian-regulated and cold-responsive genes (PubMed:27990760). Delayed flowering under long days conditions, and slightly in short days (PubMed:27837007). Increased freezing tolerance (PubMed:27837007)
Reduced growth when arginine serve as the sole source of carbon and nitrogen
No visible phenotype in the absence of host gut inflammation. Loss of resistance to the cationic antimicrobial peptide polymyxin B (PMB). Lipid A is bi- rather than mono-phosphorylated, with mass corresponding to a 1- 4'-phosphorylated molecule. Increased negative charge on the cell surface leading to greater binding of PMB, increased outer membrane disruption by PMB. Decreased survival (fitness) in host (mouse) cells after infection with C.rodentium (a mouse enteropathogen that induces inflammation) or in mice subjected to other inflammation-producing stimuli
Reduced plant size and amount of seeds
No methylation of 5'-GGTAAG-3' in chromosomal DNA, BREX no longer confers phage resistance
No visible phenotype. Nsra and nsrb double mutants are less sensitive to auxin
Mutants are unable to use DNA as a sole carbon and energy source and show decreased competitive fitness when cocultured with wild-type cells
No visible phenotype under normal growth conditions, but the double mutants pah1 and pah2-1 show reduced growth
Seedling lethality
Leads to complete loss in coumarin biosynthesis (PubMed:22945023)
Leads to hypersensitivity to oxidative stress, compromised reproductive development, repression of asexual sporulation, and reduction of virulence during maize infection (PubMed:22383877)
Plants almost double the number of leaves, and plant height are reduced to about the half that of the wild-type. Internode number is increased and their elongation is significantly reduced. The terminal tassel (terminal male inflorescence) is replaced by an ear-like (female-like) inflorescence
RNAi-mediated knockdown results in sterility, and in P granule segregation defects (PubMed:18202375). Simultaneous RNAi-mediated knockdown of meg-1 and meg-2 results in defects in P granule disassembly in the anterior cytoplasm of the P1 blastomere causing some P granules to be mis-segregated to somatic blastomeres (PubMed:25535836)
No change in chitin-induced cell wall modification compared to wild-type. Modest reduction in chitin-induced MPK phosphorylation. The levels of mRNAs of the defense-related PAL4 and CHS are induced similarly to wild-type
Reduced growth and sometimes seedling lethality (PubMed:28751900). Strong reduction of levels of plastoquinone-9 (PQ-9) and complete loss of plastochromanol-8 (PC-8) in leaves (PubMed:28751900). Severe increase of photoinhibition at high light intensity (PubMed:28751900)
Leads to increased mitotic recombination and spontaneous mutation, as well as to sensitivity to 4-nitroquinoline 1-oxide and cisplatin (PubMed:23456718). Causes also hypersensitivity to DNA interstrand cross-links (ICLs) and telomere addition to DNA breaks (PubMed:24440721)
Mice are born at the expected Mendelian rate. The homozygous mutants show severe growth retardation and the majority die shortly after birth
Flies do not grow after hatching, moved slowly and died as first instar larvae
No visible phenotype. Mice are viable and fertile (PubMed:9435303, PubMed:11127869). They present no defect in blood coagulation (PubMed:9435303). Likewise, they present no defect in liver regeneration after liver resection (PubMed:11127869). Mice have severely impaired hearing, with abnormal morphology of the tectorial membrane in the cochlea, but no visible defects of the organ of Corti and no loss of inner or outer hair cells. Mutant mice have reduced levels of thyroid hormone. This may play a role in their hearing deficit, since adequate levels of thyroid hormone are required for normal development of the auditory system (PubMed:17620368). Urine from mutant mice lacks normally processed Umod; contrary to wild-type, urinary Umod from mutant mice does not polymerize into long fibers (PubMed:26673890)
Cells lacking this gene are defective in aerobic degradation of propanediol
Mice are viable and show no apparent anatomical defects. However, they display significantly altered motor coordination and aberrant exploratory behavior
No visible phenotype, but missing a chloroplast-specific phosphatidylglycerol molecular species that carries a delta 3-trans-hexadecenoic acid in the sn-2 position of its core glyceryl moiety
Mice are more susceptible to LPS and bacterial-induced death (PubMed:28747347). In addition, TRIM8 deletion plays a protective role in hepatocyte injury triggered by hepatic ischaemia/reperfusion (I/R) injury (PubMed:31360105)
Results in a perturbation of the cell cycle of neurogenic progenitors as well as an alteration in the position of migrating neurons. There is a decrease in neurons in the cortical plate and an accumulation of cells within the ventricular and intermediate zones
Mutants show a dramatic reduction in animal body size, lethality during metamorphosis and defects in regulated exocytosis in multiple cell types, including the insulin-producing cells and the larval salivary glands
Impaired for BMC assembly, with a disrupted, unstable BMC shell
Strains lacking this gene completely lack 2-oxoglutarate dehydrogenase activity. Deletion of odhA also causes L-glutamate overproduction and accumulation during growth
Disruption abolishes EsxA and EsxB secretion, but not their expression. It results in a lack of antigen specific immunogenicity and leads to attenuated virulence
Larger rosettes and delayed flowering in long days (16 h of light/8 h of darkness). Higher sensitivity to salt (NaCl). Hypersensitivity to the presence of abscisic acid (ABA)
Reduction in the length of stem internodes. Increased thickness of veins in leaves and inflorescence stems. Altered morphology of xylem vessel elements. Altered homeostasis of polyamines. Hyposensitivity to auxin and hypersensitivity to cytokinin. The double mutants of bud2-1 and samdc1-1 are embryonic lethal
RNAi-mediated knock-down results in increased lifespan
Single mutation, decreased extracellular putrescine, in an sapBCDF operon deletion no change in resistance to antimicrobial peptide LL-37
Shows defects in pseudopod formation and translocation. Also shows slower speed of locomoting, aggregation-stage cells and significant reduction in initial rate of phagocytosis. MyoB and myoC double mutant exhibits profound defects in growth, endocytosis and rearrangement of F-actin. Expression of the full-length myoB heavy chain in these cells fully rescues the double mutant defects. myoB and myoD double mutant exhibits reduction in the speed of whole cell translocation. myoB, myoC and myoD triple mutant exhibits reduction in the speed of whole cell translocation
Knockout mice die soon after birth. They show multi-organ developmental abnormalities including pulmonary hypoplasia, ventricular septal defects, shortening of the body longitudinal axis, limb abnormalities, and cochlear hair cell stereociliary bundle orientation and basal body/kinocilium positioning defects (PubMed:26035863)
RNAi-mediated knockdown results in chromosome segregation and cell division defects in early embryos (PubMed:31216475). RNAi-mediated knockdown results in defective activity of the PIWI-interacting RNA (piRNA) silencing pathway (PubMed:31147388). RNAi-mediated knockdown disrupts the localization of tofu-6 and erh-2 to the perinuclear region of the germline (PubMed:31216475). Instead erh-2 accumulates in the nucleus (PubMed:31216475). RNAi-mediated knockdown results in decreased expression of tost-1 in the germline and in embryos (PubMed:31216475)
Viable with no gross defects. Gastric mucosa cells and duodenal Brunner's glands have an altered O-linked glycosylation profile with complete loss of terminal alpha-1,4-linked N-acetylglucosamine residues (alpha-GlcNAc). Animals develop spontaneous gastric adenocarcinomas, with all individuals affected by 60 weeks of age. Hyperplasia of surface mucous cells and pyloric gland cells is observed as early as 5 weeks of age, associated with increased inflammatory responses in the gastric mucosa
Mice are mostly fertile, develop normally, and exhibit no gross abnormalities and spermatogenesis is intact. However, both sperm motility and litter size is reduced
Hypersensitivity to heavy metal stress, temperature stress, osmotic pressure stress and oxidative stress. Deletion of mcsB also results in sensitivity to variations in pH and lowered expression of the clpC operon under adverse extracellular conditions. Additionally, virulence traits such as hemolytic activity, proteolysis, biofilm formation, and evasion from peritoneal fluid killing are substantially reduced in cells lacking this gene. Interestingly, mutant cells also show a significant reduction in expression of virulence determinants hla and saeS
Knockout parasites show reduced replication within macrophages, but are resistant to bicyclic nitro-drugs including delamanid and DNDI-VL-2098. Sensitivity to bicyclic nitro-drugs is fully restored on expression of this reductase
Mutants were more sensitive to high pressure treatment at of 300 MPa and failed to reseal the membrane after treatment
Not essential; its disruption results in increased transformation by plasmid DNA carrying multiple BsuMI target sequences (PubMed:11751814). Triple deletion ydiO-ydiP-ydiS leads to loss of susceptibility to MspJI, which only digests C-methylated DNA (PubMed:32324221)
Mice are healthy but the males are sterile (PubMed:15759005). They produce morphologically normal sperm that can bind to and penetrate the zona pellucida but that are incapable of fusing with eggs (PubMed:15759005)
Cells lacking this gene show a great reduction in citramalate synthase activity and are capable of growth in the absence of isoleucine, whereas mutants lacking both cimA and the threonine ammonia-lyase tcdB are auxotrophs for isoleucine
Male sterility due to failure of tapetum programmed cell death (PCD) and degeneration, and collapse of microspores in developing anthers (PubMed:17138695). Altered pollen wall formation (PubMed:19825565)
No effect on the regulation of core clock associated genes or on the hypocotyl length, but hypersensitivity to freezing stress and slightly earlier-flowering phenotype. Rve1 and rve2 double mutant has no alteration in the period or phase of the clock. Rve1, rve2 and rve7 triple mutant has no alteration in the period or phase of the clock
Delayed embryo development and seedling lethality. Can be rescued by adding sugars to the growth medium
No effect on chloroplastic glycosylase-lyase/endonuclease activity, probably due to function redundancy
Early flowering, leaf serration, production of extra petals and weak apical dominance
Mutations cause the accumulation of coproporphyrinogen III or coproporphyrin III in the growth medium and the accumulation of trace amounts of other porphyrinogens or porphyrins intracellularly
Deletion mutant does not synthesize SMK and shows a hypervirulent phenotype in the mouse model of infection (PubMed:16537518, PubMed:27933784). Mutant has significantly higher levels of menaquinone-9 (MK-9), an essential component in the electron-transport chain in M.tuberculosis (PubMed:27933784)
Slight sensitivity to gamma-irradiation
Severely dwarf plants that rarely survive on soil, small rosettes, compact leaves, extremely compressed shoots, and short, sterile flowers. No proper elongation of the zygote and differentiation of the extra-embryonic suspensor. Excess of stomata in leaves
Deficient male and female are normal in behavior, body size, and health condition. Females exhibit normal fertility. However, males exhibit a severely reduced fertility. The acrosomal structure of spermatids is severely deformed at the later steps of spermiogenesis
Not essential, grows normally
Plants do not show a phenotype alteration due to the redundancy with other SDN ribonucleases
Abolishes the production of AF-toxins and their precuror 9,10-epoxy-8-hydroxy-9-methyl-decatrienoic acid (EDA); and impairs the pathogenicity (PubMed:12019223). Does not affect growth rate of cultures, sporulation, and spore germination (PubMed:12019223)
Deficient mice show unaltered baseline cardiac function and heart rate, but display deficiencies in their contractile function in response to beta-adrenergic stimulation and enhanced transsarcolemmal Ca(2+) influx (PubMed:11909974). It also significantly accelerates the development of contractile dysfunction after myocardial infarction, with a rapid onset of cardiac remodeling and a transition to heart failure combined with excessive mortality (PubMed:16952982)
Viable and develops to adulthood (PubMed:25836674). However, pupal salivary glands are abnormal with large empty vacuole-like structures, tubulin disorganization, and reduced autophagy flux (PubMed:25836674). Salivary glands appear normal up to the wandering larval stage, but then exhibit a slight increase in overall length until in pupae 23 hours after puparium formation, salivary glands are significantly longer and wider (PubMed:25836674). Salivary gland histolysis occurs but appears to be delayed (PubMed:25836674). In salivary glands, bsk activation and thus JNK signaling appears to be disrupted as nuclear localization of bsk is absent in large areas of the salivary gland tissues (PubMed:25836674)
Increased sensitivity to low doses of bortezomib which causes proteasome dysfunction. Double knockout with proteasomal subunit pbs-5 or with rpt-5 knockdown results in failed expression of the proteasomal subunit rpt-3. Double knockout with pbs-5 also results in the occasional mis-localization of the transcription factor skn-1a within gut nuclei
Embryo-lethal
Decreased resistance to avirulent strains of P.syringae
RNAi-mediated knockdown causes embryonic lethality (PubMed:15716356, PubMed:18854144). The first embryonic cell divisions have mitotic spindle and chromosome segregation defects, and mitotic progression is significantly delayed (PubMed:18854144). At late telophase/G1, air-2 accumulates at the spindle midbody abnormally persisting following cleavage furrow ingression and into the next mitotic cycle (PubMed:18854144). Loss of inhibition of air-2 kinase activity (PubMed:18854144). Also, causes defects in ER dynamics characterized by a failure of the ER to form a sheet structure at the onset of mitosis and remains in large aggregates throughout mitosis (PubMed:15716356). In an air-2 (os207) mutant background, which lacks air-2 catalytic activity, restores normal mitosis and thus embryonic viability (PubMed:18854144)
Adult mice lacking Stam and Stam2 due to inducible gene targeting exhibit significant reduction in T-cell development in the thymus and profound reduction in the peripheral mature T-cells
Loss of the 8 Cas genes in this locus (cas1, cas2, cas3, cas4, cas5, cas6, cas7 and cas8b) leads to loss of CRISPR interference against plasmid targeted by this CRISPR locus, i.e. plasmid is not destroyed by CRISPR. Disruption of this single gene also leads to loss of CRISPR interference
Increased susceptibility to penetration of the epidermal cell wall by the non-host mildew fungal agent Blumeria graminis f. sp. hordei (Bgh) (PubMed:30102837). Increased salt permeability in shrunken and deformed seeds, with abnormal hair-like outgrowths (PubMed:24460633)
Abolishes the expression of all cluster genes (PubMed:22046314). Impairs growth on L-tyrosine as the sole carbon source and affects homogentisic acid and pyomelanin formation (PubMed:19028908)
Leads to increased cell size, cytokinesis defects, altered sensitivity to the cell wall-modifying substance Congo red, defects in adhesion, and reduced biofilm formation
RNAI-mediated knockdown in the bloodstream form is lethal (PubMed:24470144). RNAi-mediated knockdown in the procyclic form has no effect on viability (PubMed:24470144)
Sperm lacks motility and displayed a capacitation defect, with reduced cAMP concentration due to misactivation of soluble adenylate cyclase (see Adcy1)
Cells have increased resistant to purine analogs 8-aza-2,6-diaminopurine (8-ADP) and 2-methylpurine (2MP). No change in growth rate in HS (minimal) broth
Insensitivity to victorin phytotoxin
Impairs the production of pyriculol and pyriculariol, but accumulates their reduced forms dihydropyriculol and dihydropyriculariol
Sarcoplasmic reticulum collapse and volume reduction. Although dimensions of cardiomyocyte are not affected, total surface area is significantly increased, resulting in increased T-tubule density
RNAi-mediated knockdown results in embryonic lethality (PubMed:12937276, PubMed:28122936). Two-cell embryos appear to lack nuclei and pronuclei (PubMed:12937276). Also causes severe defects in mitosis (PubMed:22238360, PubMed:28122936). Chromosome condensation is severely impaired during prophase (PubMed:28122936). Centrosome assembly during prophase and prometaphase and their subsequent resolution are impaired which results from impaired nuclear import of hcp-4 (PubMed:28122936). Impaired sister chromatin segregation (PubMed:28122936). Loss of nucleoporin npp-5 localization to the nuclear membrane during interphase and to kinetochores during metaphase (PubMed:22238360). Irregular nuclear membrane distribution of nucleoporin npp-13 (PubMed:28122936). Mutants display P granule dispersion (PubMed:20335358)
Leads to decreased conidial production, loss of sclerotia, and altered in host colonization (PubMed:18667168, PubMed:19411623, PubMed:22289775, PubMed:24040154). Reduces expression of hydrophobins rodA and rodB, resulting in a decrease of colony hydrophobicity (PubMed:22289775). Impairs expression of aflR (PubMed:19411623). Abolishes production of aflatoxin (PubMed:22289775, PubMed:24040154). Leads to down-regulation of nitrate metabolic genes (PubMed:24040154). Prevents metabolization of host cell lipid reserves and is inhibited by oleic acid in growth assays (PubMed:19411623)
Increases frequency of mitochondrial genome loss. Partially altered shape of the mitochondrial network with condensed, fragmented mitochondria accumulating at the periphery of cells. 20-40% of mitochondria exhibit an increased inner membrane surface and stacks of lamellar cristae disconnected from the inner boundary membrane
Adipose-specific Adissp knockout mice are defective in WAT browning, and are susceptible to high fat diet-induced obesity and hyperglycemia
Plants are defective in cell elongation and show a severe dwarf phenotype
Embryonic lethality when homozygous
Embryos display segmentally repeated ganglionic branches that stall and fail to penetrate the CNS and the segment-specific cerebral branch and associated cerebral anastomosis fail to form
Mutant female mice are infertile due to impaired cumulus oophorus expansion upon gonadotropin surge (PubMed:12668637). Mutant mice have twice the bone mass of wild-type littermates. They show increased trabecular number and trabecular thickness (PubMed:18586671)
Lethal. RNAi-mediated knockdown in the germ line results in defective nurse cell morphology
Cells are unable to grow on 4-hydroxyphenylacetate
Asynchrony between gonadal and vulval development. Retarded uterine uv1 cell differentiation (PubMed:19161245). RNAi-mediated knockdown results in the precocious onset of tail tip retraction resulting in over-retracted and shortened adult male tails (also known as the Ore phenotype) (PubMed:26811380, PubMed:30956008). RNAi-mediated knockdown in a ced-3 and ain-1 double mutant background reduces the percentage of animals with developmental defects including impaired egg-laying and production of ectopic seam cells (PubMed:25432023). RNAi-mediated knockdown reduced the number of dauer animals in a dcap-1 mutant background (PubMed:28250105)
No visible phenotype (PubMed:24039602). Accelerated growth and slightly early flowering (PubMed:21556057)
Produces wild-type amounts of siderophores and growth at the same rate as the wild-type under iron limitation, but accumulates high levels of free intracellular iron (PubMed:20507510). Does not affect the virulence (PubMed:20507510)
Altered processing of autotransporter proteins IgA protease and App (PubMed:14617158). No longer processes extracellular LbpB (PubMed:20421383). Increased biofilm formation (PubMed:23163582)
Reduced dry weight and primary root length when grown in the presence of sorbitol. Increased resistance to dehydration under short-day conditions
Leads to a growth defect on medium containing phenylalanine, valine, leucine, or methionine as sole nitrogen source (PubMed:28028545)
Reduced grain filling rate, reduced grain weight, reduced seed thickness, opaque periphery of grain endosperm and defect in starch accumulation in the periphery of the endosperm during seed development, due to lysine accumulation
Deletion mutants cannot control the rotation of their flagella and swim with abnormally frequent reversals
Impairs the formation of preautophagosomal structures (PubMed:26442587)
Accumulation of anthocyanins in embryo. Presence of trichomes on cotyledons. Unusual pattern of storage product accumulation in embryos and cotyledons
RNAi-mediated knockdown results in defective activity of the PIWI-interacting RNA (piRNA) silencing pathway (PubMed:31147388). RNAi-mediated knockdown disrupts the localization of tofu-6 to the perinuclear region of the germline (PubMed:31216475). RNAi-mediated knockdown does not cause chromosome segregation and cell division defects in early embryos (PubMed:31216475)
Plants are defective in root elongation and show reduced mitotic activity and increased cell death in the root apical meristem (RAM)
Loses the ability to produce yanuthone D (PubMed:24684908). Leads also to the loss of production of yanuthone X1 which does not have 6-methylsalicylic acid (6-MSA) as a precursor (PubMed:24684908)
Cells do not display any phenotype
Reduced tachyzoite growth and host invasion (PubMed:27932494). Loss of tubulin at the apical complex (PubMed:27932494). Abnormal conoid morphology characterized by a shorter and less rectangular structure a weaker or absent basket-weave stripe pattern (PubMed:27932494). Cortical microtubules, the mitotic spindle, spindle pole, and centrioles are normal (PubMed:27932494)
The gatD-murT double mutant shows abnormal peptidoglycan composition, with decreased amidation of the glutamate residue. The mutant has a normal morphology but growth rate is greatly reduced. Mutant shows reduced antibiotic resistance and increased sensitivity to lysozyme
Mutant mice, when surviving after birth, show retarded growth during the postnatal period, but do not develop severe cerebellar vermis hypoplasia or ataxia associated with cerebellar dysfunction (PubMed:23658157). Adult homozygous knockout mice have a small body size, with slightly reduced brain size compared with wild-type and heterozygous littermates. The overall brain morphology appears normal except for a smaller cerebellum and underdeveloped vermis with a mildly defective foliation pattern. Vermian lobules VI and VII appear fused, whereas lobule V appears smaller and underdeveloped at 3 weeks of age. Overall, the cerebellum is slightly hypoplastic (PubMed:21623382)
Homozygous deletion of HAT1 results in neonatal lethality but survival to at least late embryogenesis. The structure of the vertebrae in the neonates degenerates near the base of the spinal column
Insertion mutant accumulates lower amounts of moenomycin and is impaired in morphogenesis as compared to the parental strain. Mutant shows reduced level of thiomethylation at position 37 in the anticodon of tRNA
Mutant mice develop normally, including the immune system. After injection of the chemotherapy drug cisplatin, they look more healthy and vigorous than wild type
Dwarf, twisted leaves and enhanced disease resistance to bacterial and oomycete pathogens in cv. Columbia when grown under constant loght at 22 degrees Celsius. No visible phenotype when grown at 28 degrees Celsius. Accelerated hypersensitive response (HR). Bap1 and bap2 double mutant is seedling lethal
Embryonic lethal. Embryos ndie shortly after implantation and are compromised in their ability to maintain an inner cell mass
Cells lacking this gene are unable to grow on ectoine as sole carbon source
Defective cessation of distal tip cell migration from the dorsal muscle towards the mid-body during gonadal development. RNAi-mediated knockdown of cacn-1 in mig-39 null animals results in a strong overshoot phenotype in which anterior and posterior distal tip cells. RNAi-mediated knockdown of Rac GTPase, Rac-2, in double mig-39 and either ced-10 or mig-2 (which are also Rac GTPases) null animals, suppresses the overshoot phenotype in mig-39 null animals
Knockout mice represent an appropriate model for studying the pathogenesis of neuroaxonal dystrophy in human neurodegenerative diseases (PubMed:18305254, PubMed:18937505). Mutant mice show neuroaxonal dystrophy and significant motor dysfunction from the age of 50 weeks that progressed to ataxia by 2 years (PubMed:18305254). At 55 weeks they display numerous spheroids located in the axons and synapses throughout central and peripheral nervous system, mostly prominent in the tegmentum of the medulla, the lower pons, and the dorsal horns of the spinal cord. Sciatic nerves have reduced numbers of myelinated fibers indicative of neural degeneration (PubMed:18305254). The neuroaxonal dystrophy is associated with deficient remodeling of the mitochondrial inner membrane and presynaptic membrane of axon terminals (PubMed:21813701). Mutant mice gradually lose weight and die earlier than wild-type littermates (PubMed:18305254). Mutant male mice show reduced fertility (PubMed:18305254)
RNAi-mediated knockdown impairs gap junction function in pharyngeal muscles which disrupts the synchronized muscle contraction between the pharyngeal metacorpus and terminal bulbs and thereby decreases the pharyngeal pumping rate
Increased cuticle development leading to ectopic cuticle biosynthesis in trichomes
No visible phenotype (PubMed:15363892, PubMed:15390100). Mutant mice display normal locomotion, motor coordination and learning, and globally normal glutamate uptake in brain vesicle preparations (PubMed:15363892). The decay time of glutamate receptor mediated excitatory postsynaptic currents (EPSCs) in cerebellar Purkinje is slightly increased (PubMed:15363892). The decreased rate of glutamate uptake in retina Mueller cells from mutant mice suggests that Slc1a3 accounts for about half of the glutamate uptake activity in wild-type cells (PubMed:15390100). Mice deficient in both Slc1a2 and Slc1a3 die at about 17 dpc (PubMed:16880397)
Mutations affect pilin antigenic variation; some mutations create growth defects
Increases efficiency of DNA conjugation when disrupted in donor strain (PubMed:15314236). Loss of DNA conjugation when disrupted in recipient strain (PubMed:18554329) No effect on secretion of EsxA or EsxB (PubMed:15687187). EsxB secretion was not seen in this disruption in strain MDK8 (PubMed:18554329)
Deletion mutant is attenuated in human macrophages (PubMed:18474358). The mutant is not defective when grown in vitro and also shows no growth defect in a mouse infection model (PubMed:18752626)
Larvae lethal at the second- or third-instar stage (PubMed:11546740). RNAi-mediated knockdown in adult pigment dispersing factor (Pdf)-expressing clock neurons results in poor circadian locomotor rhythms under constant dark (DD) conditions (PubMed:28388438). The axonal terminus of s-LNv neurons display a loss of Pdf circadian daily oscillations which is consistent with their behavioral arrhythmicity (PubMed:28388438). However, there is no effect on the daily oscillations of pir and tim proteins in Pdf neurons (PubMed:28388438). Double knockdown with Atx2 enhances the behavioral arrhythmicity (PubMed:28388438). RNAi-mediated knockdown in the dorsal-most class IV neurons frequently results in defects in terminal dendrite morphology and dendritic tiling (PubMed:17178403). RNAi-mediated knockdown in adult projection neurons increases levels of the translational reporter protein CaMKII in the antennal lobe (PubMed:21267420). RNAi-mediated knockdown in the anterior/posterior boundary of the wing imaginal disk causes loss of DCP1- and pcm-expressing P-bodies (PubMed:17982591)
Does not affect motility. No differences in growth rate or cell size
No discernible effect on morphology, viability or fecundity (PubMed:32923640). Simultaneous knockout of nemp1 and nemp2 results in viable healthy animals but both females and males have impaired fertility with females laying normal-sized clutches only for the first 3 weeks followed by a marked drop in fertility (PubMed:32923640)
Deficient mice display resistance to induced ER stress with reduced cell death and mortality
Impaired pollen tube reception in the female gametophyte synergids; the pollen tube fails to arrest and continues to grow inside the female gametophyte
A strain deleted of chpF and chpG makes rodlets (PubMed:15228525). Deletion of all 8 chaplin genes on minimal medium leads to severely disrupted aerial hyphae that collapse on the colony surface and are not hydrophobic. A few spore chains can still be made, but they have neither rodlets or amyloid-like fibers. rdlA and rdlB mRNA are down-regulated (PubMed:15228525, PubMed:17462011). Deletion of all 8 chaplin genes on rich medium leads to a reduced abundance of aerial hyphae without rodlets and occasional spore chains on surface hyphae. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011). Deletion of all 8 chaplin genes significantly reduces cellular attachment to a hydrophobic substrate; thin fibrils instead of fimbrae are detected. The long chaplins (ChpA, ChpB and ChpC, as seen by near wild-type attachment of the hextuple chpA-chpB-chpC-chpD-chpE-chpH knockout) are not essential but may contribute to attachment (PubMed:19682261)
Reduced body size and impaired neural progenitor cell proliferation. Sterility due to defective meiosis; no effect on mitotic cells. Premature translocation of CDK1 from the cytoplasm to the nucleus compensating CDK2 loss. Prolonged and impaired DNA repair activity upon DNA damage by gamma-irradiation
Low levels of indolic glucosinolates and loss of responses to brassinosteroids
RNAi-mediated knock-down is mostly embryonic lethal (PubMed:23691084). Embryos exhibit cytokinesis defects which lead to arrest during development (PubMed:23691084). Embryogenesis proceeds more slowly and embryos are osmo-sensitive (PubMed:23691084). Defective localization of the yolk receptor rme-2 and impaired yolk secretion (PubMed:23691084). May result in chromosome segregation defects (PubMed:23691084)
Increases expression of the entire cob operon about 90-fold irrespective of the growth medium; expression retains its sensitivity to vitamin B12 repression (PubMed:8071226). Cells lacking this gene are defective in aerobic and anaerobic degradation of propanediol (PubMed:9023178, PubMed:7559322)
No effect on anaerobic growth on glycerol fumarate medium
No visible phenotype (PubMed:19228338). Enlarged plants early in the development but reduced plants in size in a later stage (PubMed:17041028)
Mutants are not compromised in their ability to invade cultured epithelial cells or to form plaques on BHK cell monolayers
Changes the gray-green conidial pigment to a brown color (PubMed:26972005)
Mutant requires high concentration of nitrate for growth. It grows normally with nitrite or ammonium as the nitrogen source
Mutants show normal fecundity, fertility and longevity up tp 2 year. They have reduced serum 3-hydroxy-L-kynurenine concentrations. They are protected against extrapancreatic tissue injury to the lung, kidney and liver produced by acute pancreatitis-induced multiple organ dysfunction syndrome
Inactivation of the gene causes a growth defect in minimal media supplemented with succinate, fumarate or malate. The dctA-dctPQM double mutant shows no growth on malate and fumarate and residual growth on succinate
A double yenC1-yenC2 deletion is no longer pathogenic in C.zealandica larvae
Delay in chromosome segregation and an increase in the sensitivity to agents that induce DNA damage. They divide over unsegregated chromosomes with increased frequencies. A cell filamentation phenotype can also be seen, when associated with a noc deletion
Small interfering RNA knockdown of the protein in Neuro-2a cells (which only express this SV2 protein) prevents uptake of C.botulinum neurotoxin type A (BoNT/A, botA); uptake is restored by expression of rat SV2A or SV2B (PubMed:16543415)
Cells lacking this gene are unable to grow on minimal medium with L-lactate as the sole carbon source. Cells lacking the lutABC operon exhibit little or no defect in biofilm formation on MSgg medium, but form small colonies that almost completely lacked surface architecture when glycerol is replaced with L-lactate in the MSgg medium
Leads to a marked reduction in penicillin biosynthesis (PubMed:23264641)
Embryonic lethality around E9.5 (PubMed:17376872, PubMed:18981216). Early embryos show growth retardation and incomplete closure of the notochord, as well as placental defects in the spongiotrophoblast and syncytiotrophoblast layers, resulting in an arrest of vascular branching morphogenesis (PubMed:18981216). Conditional knockout mice lacking Rbm15 within the hematopoietic compartment display a loss of peripheral B-cells due to a block in pro/pre-B differentiation, as well as a myeloid and megakaryocytic expansion in spleen and bone marrow (PubMed:17376872)
Defects in locomotion, pharyngeal pumping rate, egg-laying, and reduced life-span
Early embryonic lethality. Conditional knockout in mouse embryonic fibroblasts results in severely defective progression through S phase and subsequent apoptosis (PubMed:18606781). Conditional knockout in B lineage-specific cells arrests B-cell development at the pro-B-to-pre-B cell transition: mice display modest reduction of D-J(H) rearrangement, while V(H)-DJ(H) and V(kappa)-J(kappa) rearrangements are severely impaired. D-J(H) coding joints show longer junctional nucleotide insertions and a higher mutation frequency in D and J segments than normal (PubMed:22157821)
Slightly increased sensitivity to excess L-cysteine, the effect is more pronounced in M9 minimal medium. Loss of expression of dlsT(yhaO)-yhaM operon. Cells no longer produce hydrogen sulfide in the presence of excess cysteine
Depletion decreases the density of outer membrane proteins, but does not significantly affect transport of lipopolysaccharides to the outer membrane
Simultaneous disruption of tpsA abolishes trehalose biosynthesis during hyphal and conidia formation, and delays germination (PubMed:20439478). Simultaneous disruption of tpsA results in abnormal cell wall formation, sensitivity to caspofungin, calcofluor white, thermal stress and oxidative stress, and hypervirulence in a mouse model of aspergillosis (PubMed:20439478)
Mice display a reduction in the number of mature B-cells and an impaired B-cell proliferation upon B-Cell receptor cross-linking probably due to a loss of inhibition of BCR-induced apoptosis. PPP2R3C overexpression protects B-cells from activation-induced cell death
RNAi-mediated knockdown causes no obvious phenotype
Affects yeast-to hyphal transition
Reduced fertility and meiotic defects: 60 per cent reduction in crossovers and delayed prophase I progression
RNAi-mediated knockdown causes hypersensitivity to Cd(2+), specifically causes a reduction in growth, impairs development and reduces fertility
Dwarf phenotype with increased branching and tiller number, and strong reduction of the root levels of strigolactones
Knockout mice are morphologically normal and fertile, however take an increased amount of time to learn new spatial memories (PubMed:26683084). Reduced dendritic spine density in the dentate gyrus and both the basal and apical CA1 regions of the hippocampus, with additional decreased in apical dendrite length (PubMed:26683084). The difference in dendritic spine density becomes more pronounced with age (PubMed:26683084). Reduced numbers of osteoclasts in bone marrow macrophages, however overall displayed a normal skeletal phenotype (PubMed:27336669). Abolishes ICAM1 distribution at the pericentral ring of the immunological synapse of T-cells (PubMed:27359298). Impaired movement of T-cell receptor (TCR) microclusters from the synapse periphery to the central region and a decrease in TCR microcluster maturation (PubMed:27359298). Decreased Ca(2+) release from intracellular stores and decreased PLCG1 activation during synapse formation. T-cells failed to form stable immunological synapses, tended to polarize and exhibited uncoordinated, slow migration resulting in significantly smaller synapse area (PubMed:27359298). T-cells show a disorganized cortical actin network, smaller lamellipodial area and undefined lamella boundaries (PubMed:27359298). Decreased splenic follicular and marginal zone B-cells (MZB), however MZB cells were more significantly affected, leading to a decrease in phosphorylcholine-specific IgM and IgG2a (PubMed:16148091). Reduced chemotaxis of T-cells and follicular B-cells in response to CXCL12 and CXCL13 and reduced cell adhesion in response to the integrin ligands VCAM1 and ICAM1 (PubMed:16148091). Decreased number of homing B- and T-cells in the spleen, lymph nodes and peripheral blood, with elevated B-cells in the peripheral blood (PubMed:16148091)
Seems to stimulate mitochondrial biogenesis and especially mitochondrial protein synthesis
Deletion of yhiD in addition to mgtA and corA leads to Mg(2+) auxotrophy
Retarded root growth, and altered root meristem size and stem-cell patterning. Late flowering phenotype
Strong growth retardation and severe chlorosis in leaves; white leaves, but green cotyledons. Leaves missing the palisade mesophyll layer, due to reduced cell number and size. Abnormal thylakoid membrane in chloroplasts, probably due to photo-oxidative damage. Defective in protein import into chloroplasts
Embryonic lethality by 7.5 dpc
Deficient mice display a higher susceptibility to chemical induction of lung tumors
Blocks harzianum A production and reduces expression of the trichothecene biosynthesis genes, as well as of mevalonate biosynthetic genes required for synthesis of farnesyl diphosphate (FPP), the primary metabolite that feeds into trichothecene biosynthesis (PubMed:30121242). Leads to increased expression of 10 of 49 secondary metabolite (SM) biosynthetic gene clusters in T.arundinaceum and reduced expression of 5 SM biosynthetic gene clusters (PubMed:30121242)
No visible phenotype, due the redundancy with other IPTs
Cells lacking this gene are not completely unable to grow on PNP
RNAi-mediated knockdown results in embryonic lethality (PubMed:31147388). RNAi-mediated knockdown results in chromosome segregation and cell division defects in early embryos (PubMed:31216475). RNAi-mediated knockdown enhances the activity of the PIWI-interacting RNA (piRNA) silencing pathway (PubMed:31147388). RNAi-mediated knockdown disrupts the localization of tofu-6 to the perinuclear region of the germline (PubMed:31216475). RNAi-mediated knockdown results in larger tofu-6-, erh-2- and pid-3-expressing foci (PubMed:31216475)
Fasciated plants with broad, flat stems and disrupted phyllotaxy. Shoot apical meristem enlargement and altered floral development. Reduced heterochromatin content, more open conformation of euchromatin and dramatic increase of homologous recombination
Produces smaller amounts of AM-toxin than the wild type but still causes lesions on apple leaves
Impairs the production of phomasetin but accumulates N-desmethylphomasetin
Female sterility, consequence of a maternal lethal effect. Approximately 2% of the embryos from aub mutant females are fertilized and secrete a recognizable cuticle, while all of them lack abdominal segments. Male sterility accompanied by production of Ste protein crystals in primary spermatocytes and by meiotic non-disjunction and drive of sex chromosomes and autosomes
Phosphatidylinositol dihydroceramide (PI-DHC) and phosphatidylinositol diacylglycerol (PI-DAG) is absent; synthesis of other glycerophospholipids is unaffected
Deletion of the icaADBCR genes leads to the inability to form biofilms, produce PIA or mediate N-acetylglucosaminyltransferase activity in vitro
Deletion of the arsADRC operon results in increased sensitivity to arsenite and antimonite but not arsenate
Deficient female mice are infertile due to a granulosa cell defect preventing normal follicle formation. Deficient male are fertile when young, but subsequently exhibit an age-dependent progressive loss of germ cells and misregulation of several genes required for normal spermatogenesis
Deletion of the gene does not affect amphomycin minimum inhibitory concentrations (PubMed:36450355). The triple mutant lacking uptA, popT and SAOUHSC_00901 is not viable (PubMed:36450357)
Deficient mice are phenotypically normal. However deficient mice display a partial loss in the conversion of leukotriene D4 to leukotrience E4 and in the conversion of cys-bis-gly to cysteine and glycine (PubMed:9560193). Deficient mice display reduces mortality in models of sepsis (PubMed:31442408)
No visible phenotype. Slight reduction of xylose content in the cell wall composition
Has no effect on leucine biosynthesis nor on bgl operon silencing
No visible phenotype under normal growth conditions, but mutant plants are susceptible to white rust fungal pathogen Albugo candida subsp. B (PubMed:18624640). Increased resistance on UV-induced growth inhibition (PubMed:25656510)
The arf7-1 arf19-2 double mutant is defective in callus formation
Never-flowering phenotype in the rid1 mutant (PubMed:18725639). Extremely delayed flowering under both short- (SD) and long-day (LD) conditions, associated with reduced EHD1, HD3A and RFT1 levels, but increased leaves and nodes production (PubMed:18790997, PubMed:18725639, PubMed:18774969). Levels of FTL1 and FTL4 are slightly reduced under both LD and SD, expression of FTL5 is down-regulated under LD, whereas FTL6 is down-regulated only under SD (PubMed:18725639). In contrast, the accumulation of FTL11 is slightly higher under both SD and LD (PubMed:18725639). Reduced levels of MADS1, MADS14 and MADS15, downstream genes of EHD1 (PubMed:18774969)
No visible phenotype (PubMed:25451040, PubMed:24794527, PubMed:31201341). Impaired rapid hyperosmotic-induced Ca(2+) responses in kea3 (PubMed:27528686, PubMed:25451040). Altered non-photochemical quenching (NPQ) and photosystem II (PSII) quantum efficiency after transitions from high to low light leading to a reduced growth rate (PubMed:27335350, PubMed:31053658, PubMed:31427465). Transiently increased NPQ upon transition from dark to low light (PubMed:31201341). Slightly faster NPQ induction on transition from low to high light (PubMed:31201341). Delayed NPQ relax on transition from high to low light (PubMed:31201341). In contrast to dpgr, the mutant kea3 has a high-NPQ phenotype during steady state in ambient air (PubMed:27783435). The kea3 pgr5 double mutant combines the phenotypes of the single mutants in NPQ induction upon overnight dark adaptation (PubMed:32978277). The double mutant crr2 kea3 enhances the kea3 single mutant phenotypes, and delays induction of CO(2) fixation after overnight dark adaptation (PubMed:32978277). Triple mutants kea1 kea2 kea3 are extremely stunted in size with entirely pale leaves and died before steeing seeds (PubMed:24794527). Lower photosynthetic performance in dark-adapted clce kea3 double mutant, as well as in the clce kea3 vccn1 triple mutant (PubMed:31201341). Altered NPQ upon transition from dark to low light in clce kea3 and kea3 vccn1 double mutants and in the clce kea3 vccn1 triple mutant (PubMed:31201341). Strong growth penalty in the cgl160 kea3 double mutant associated with a low lumenal pH leading to a reduced photosynthetic capacity (PubMed:32041909)
No visible phenotype under normal growth conditions, but germination of mutant seeds is strongly delayed under low temperature conditions
Worms display altered surface antigenicity which prevents bacterial adherence. This is due to a deficiency in both O- and N-linked glycans
Impaired chloroplastic NAD(P)H dehydrogenase (NDH) activity
Larval lethal (PubMed:19581577). Larvae develop melanotic spots and display an increase in the activity of the activated form of prophenoloxidase 1 (PPO1), phenoloxidase (PO) (PubMed:19581577). Larvae display enhanced activation of the Toll signaling pathway, with increased Tl, spz and Drs expression (PubMed:19581577). RNAi-mediated knockdown of maternal and zygotic expression results in adults that have a reduced lifespan (PubMed:19581577). Wing development appears to be unaffected, however after emergence from the pupal case adult wings fail to unfold and instead remain folded and hypotrophic until death (PubMed:18956323). Other aspects of development in embryos, larvae, pupae and adults appears to be unaffected
Deletion mutants do not grow on glucose
Does not affect the annullatin D biosynthesis pathway
Loss of production of extracellular death factor
Does not completely abolish the neosartorin synthesis, but accumulates chrysophanol
Its natural mutant mHwTx-V shows no effect on locusts, cockroaches, and mice
Abnormal activation of TORC1 signaling (PubMed:32801125). Abnormal punctate localization of TOR1 (PubMed:32801125). Sensitive to high hydrostatic pressure (mechanical stress) (PubMed:32801125)
Developmental defects, such as short roots, misshaped leaves, reduced fertility and partial fasciation of stems
No visible phenotype under normal growth conditions, but suppression of hypersensitive cell death response upon infection with avirulent pathogen
Mice are viable and were born at the expected Mendelian frequency (PubMed:23297193). Young mice (less than 6 months old) are mostly normal in their behavior; however, as these animals age, they develop an array of phenotypes, including defective auditory and motor behavior, with concomitant cellular pathology indicative of a neuroinflammatory response (PubMed:23297193). Mice show heightened immunological responses (PubMed:30420694). Metabolomic characterization of brain tissue show striking elevations in a series of lysophosphatidylserine (LPS) lipids that occur before the onset of neuroinflammatory and behavioral defects (PubMed:23297193). Brain tissues accumulate oxidized phosphatidylserine lipids in response to severe inflammatory stress (PubMed:30643283)
RNAi-mediated knockdown causes ectopic expression of gcy-5 in the ASEL gustatory neuron
Mutation reduces both the rate and the extent of ProP activation by an osmotic upshift, but does not impair transcription or translation of proP
Decreases the frequency of germination
Impairs atg8-processing (PubMed:23950735). Sensitive to nitrogen starvation (PubMed:33138913)
Mice are hyperactive and suffer from intermittent, spontaneous cortical seizures. They exhibit reduced cholinergic transmission in the ventral portion of the striatum and defective acetylcholine release. They are hypersensitive to cocaine and less prone to haloperidol-induced catalepsy
Cells with a disrupted yenA1-yenA2-chi2-yenB-yenC1-yenC2 locus are no longer pathogenic in C.zealandica larvae
Knockout in type I (RH strain) or type II (Prugniaud strain) parasites, results in a reduction in tachyzoite growth; the lytic cycle is slower with some defects in spontaneous egress while intracellular replication in the host cell is normal (PubMed:26576949, PubMed:26473595). In tachyzoite infected host cells, association of host mitochondria (HMA) with the parasitophorous vacuole membrane (PVM) is reduced; however, does not affect processing and expression levels of MAF1, which is required for HMA (PubMed:26576949, PubMed:26473595). Up-regulation of several host cell genes induced during infection is reduced (PubMed:26576949, PubMed:26473595). Host MYC expression within the host nuclei is severely reduced (PubMed:26576949). The nanotubular network (NTN) or intravacuolar network (IVN) which are membranous tubules that bud from the PV membrane into the vacuolar lumen are diminished and disorganized (PubMed:26576949, PubMed:26473595). During infection, fails to enhance dendritic cell migration (PubMed:26473595). Parasite virulence is less severe in C57/BL6 mice (PubMed:26576949, PubMed:26473595). Loss of GRA16 processing (PubMed:26576949, PubMed:26473595, PubMed:26270241). Export of GRA16 to the host nucleus is impaired with GRA16 remaining in the Golgi and the PV (PubMed:26576949, PubMed:26473595, PubMed:26270241). Loss of MYR1 processing (PubMed:26576949). Export of GRA24 to the host nucleus is impaired (PubMed:26576949, PubMed:26473595, PubMed:26270241). GRA2, GRA3 and GRA7, but not GRA1, localization to the PVM is impaired; however, their secretion into the PV is normal (PubMed:26473595). Loss of GRA19 and GRA20 processing without affecting their localization to the PVM (PubMed:26473595). Loss of LCAT, GRA44, GRA46, GRA46, ROP35/WNG1 and ROP34/WNG2 processing (PubMed:30377279). In type II parasite (Prugniaud strain), stage conversion from tachyzoites to bradyzoites is normal; however, cyst wall formation is impaired (PubMed:26473595). At the tachyzoite stage, does not affect the recruitment of host immunity related GTPases (IRG proteins) Tgtp1/Irgb6 to the PVM (PubMed:26473595)
RNAi-mediated knockdown does not produce a visible phenotype. However, fertility is reduced with egg-laying decreased by 30%. AGO3 protein levels are decreased and AGO3 is delocalized from the nuage. No effect on nuage morphology and no mislocalization of piwi and aub. RNAi-mediated knockdown in germline tissues results in delocalization of AGO3 from the nuage
Abolishes the ability to inhibit host Rho family GTPases and cause cytoskeletal disruption
Mice exhibit prolonged tail bleeding time compared to wild-type mice despite equivalent platelet numbers (PubMed:24429998). Platelets exhibit significantly reduced thrombin-induced platelet aggregation and activation, ROS production, calcium mobilization and activation of integrin ITGA2B:ITGB3 (PubMed:24429998). Fibrinogen-platelet binding, platelet spreading and cytoskeleton reorganization are also impaired (PubMed:24429998)
Not essential for growth
Cells lacking this gene show lower accumulation of 26-hydroxycholest-4-en-3-one and cholest-4-en-3-one-26-oate when compared with the wild-type and display a strong induction of cyp142A2. The levels of 26-hydroxycholest-4-en-3-one and cholest-4-on-3-one-26-oate are drastically reduced in cells lacking both cyp125A3 and cyp142A2
Decreased rate of leaf formation, reduced root elongation, delayed skotomorphogenesis and altered growth responses to exogenous cytokinins. Increased sensitivity to heat shock and increased tolerance to oxidative stress. Decreased 26S proteasome accumulation. In flowers and cotyledons, epidermal cells were larger than those in the wild type
Disruption causes altered colony morphology (PubMed:10573420). Inactivation increases mouse survival (PubMed:15908378). Mutants are unable to liberate PDIM into the culture medium and are compromised for growth in mouse lungs, but not in the liver or spleen (PubMed:10573420). DIM are found mostly in the cytosol and plasma membrane, and mutants exhibit higher cell wall permeability and are more sensitive to detergent (PubMed:11279114)
RNAi-mediated knockdown at the L4 stage of larval development inhibits activity of the proteasome (PubMed:30265660). RNAi-mediated knockdown at the L4 larval stage also results in increased mortality and transcription of immune genes containing the elt-2 binding motif when exposed to Gram-negative bacteria such as P.aeruginosa (PubMed:30265660). RNAi-mediated knockdown at this stage, furthermore, prevents the recovery of P.aeruginosa infected animals treated with the antibiotic streptomycin (PubMed:30265660)
Increases cellular trehalase level during thermal stress (PubMed:7730323). Increases sensitivity to heat shock (PubMed:7730323, PubMed:7883049). Decreases growth on the non-fermentable carbon source glycerol; simultaneous knockout of ATH1 exacerbates the effect (PubMed:7883049)
Failure of pollen tube arrest and fertilization. Deficient in pollen tube reception by the female gametophyte
Null mutations in either tagB or tagC lead to a cell autonomous defect in prestalk differentiation and a 5-fold reduction in the expression of the prestalk gene ecmA. Disruption of regA in a tagB null or in a tagC null background results in higher levels of sporulation
Impairs the production of viridicatumtoxin (PubMed:20534346)
Male mice display a significant reduction in testicular size and are sterile, due to impaired spermatogenesis (PubMed:17681941). Males show increased levels of apoptosis within the spermatocyte layer of the seminiferous epithelium, accompanied by the absence of spermatids and spermatozoa within the seminiferous epithelium and lumen respectively (PubMed:17681941). Early meiotic arrest: an accumulation of leptotene spermatocytes, a decrease in pachytene spermatocytes and an absence of diplotene spermatocytes are observed in spermatocytes (PubMed:19556438). Deletion of Slc25a4/Ant1, Slc25a5/Ant2 and Slc25a31/Ant4 in liver completely inhibits mitochondrial permeability transition pore (mPTP) (PubMed:31489369). Mice lacking Slc25a4/Ant1, Slc25a5/Ant2, Slc25a31/Ant4 and Ppif lack Ca(2+)-induced mPTP formation (PubMed:31489369)
Decreased growth related to mitochondrial dysfunction
Reduced lifespan associated with accelerated aging and increased tissue deterioration (PubMed:16626392). Defective dauer formation (PubMed:9477318, PubMed:10859169). In the absence of cholesterol, arrest with abnormal cuticle formation (PubMed:15383841). Increased resistance to P.aeruginosa infection possibly due to elevated expression of antimicrobial genes (PubMed:23990780). Prevents increase in the number of muscle arm extension in a daf-2 (e1375) background (PubMed:18436204). RNAi-mediated knockdown results in reduced lifespan, but increased resistance to bacterial infection (PubMed:23990780)
Cells lacking this gene display a slow growth phenotype. Cell size, shape and nucleoid morphology remain unchanged
RNAi-mediated knockdown results in the increased expression of reactive oxygen species (ROS) in the gut of 7 day old conventionally reared adult flies. No increased ROS expression in germ-free adults and in response to bacteria-derived uracil
Increased number of leaves and shorter petioles under vegetative conditions. Late-flowering phenotype when grown under both long-day and short-day conditions. Increased sensitivity to necrotrophic pathogens
Essential, at least the last 3 genes of the locus cannot be deleted; could be due to polar effects on downstream ymaB
A double deletion of TGL3 and TGL4, the 2 major TGA lipases, leads to fat yeast, rendering growing cells unable to degrade triglycerides
No visible phenotype. Reduced basal and R-protein-mediated disease resistances
Complete lethality during early embryonic development
Morpholino knockdown of the protein leads to death at 6 days post-fertilization (dpf) due to heart growth defects and absence of blood circulation, despite the presence of a beating heart (PubMed:22345307). Show reduced heart contractility from 30 hours post-fertilization (hpf), onwards (PubMed:22345307). Display defects in sarcomere organization from 33 hpf, onwards (PubMed:22345307). Show altered expression of key genes necessary for sarcomere formation (PubMed:22345307)
At embryonic day 14.5 ocular morphology is normal as is expression and localization of retinal transcription and cell cycle regulatory proteins
RNAi-mediated knockdown together with fah-1 RNAi rescues the impaired growth and fertility defects in the single fah-1 RNAi mutant
Mice lacking H6pd are born at the expected Mendelian frequency and do not show overt phenotype (PubMed:16356929). However, they display cellular inability to convert 11-dehydrocorticosterone (11-DHC) to corticosterone and present increased corticosterone to 11-DHC conversion associated with adrenal hyperplasia (PubMed:16356929). Mutant mice also display fasting hypoglycemia and perturbed lipid mobilization that are probably due to the aforementioned effect on corticosterone metabolism and blunted intracellular action of the hormone (PubMed:17656460, PubMed:18218694). Skeletal myopathy associated with a dysregulation of the expression of proteins associated with calcium homeostasis in the sarcoplasmic reticulum and an activation of the unfolded protein response are also observed (PubMed:18222920)
RNAi-mediated knockdown results in an increase in the expression of gpdh-1 independent of hypertonic stress
No visible phenotype, and no effect on the level of 1-ethenoadenine in genomic DNA in aging mice. In contrast, the levels of 1-methyladenine in genomic DNA increase over time in aging adults
Fails to produce asperthecin (PubMed:18978088)
Cells lacking this gene are able to grow with carbon substrates that do not require the operation of the (complete) ethylmalonyl-CoA pathway (succinate, propionate/HCO3(-), or acetate plus glyoxylate) but are unable to use acetate or acetoacetate as the sole carbon source. They show undetectable ethylmalonyl-CoA mutase activity when grown with acetate plus glyoxylate, while are still able to convert methylmalonyl-CoA to succinyl-CoA
RNAi-mediated knockdown has no effect on neuromuscular junction (NMJ) growth. However, conditional knockdown in the muscles results in a decrease in bouton number at the NMJs
Cells lacking this gene are photosensitive and are not able to grow with a nonfermentable source of carbon. They also fail to produce ubiquinone, and accumulate 2-octaprenylphenol and 2-octaprenyl-6-methoxyphenol
Cells missing yafQ show increased biofilm sensitivity to the antibiotics cefazolin (a beta-lactam inhibitor) and tobramycin (a protein synthesis inhibitor). There is no difference in antibiotic sensitivity in stationary phase planktonic cells (PubMed:19307375)
Haploinsufficiency cause obesity and craniofacial abnormalities. Homozygous mice die during gastrulation and organogenesis. The few surviving mice experienced postnatal growth retardation and most of them died before weaning
Several defects in neuron development (PubMed:25232734, PubMed:26974341). In PVD mechanosensory neurons, tertiary and quaternary branching is decreased, secondary and ectopic tertiary branching is increased, the length of dendritic branches is also reduced and branches tend to overlap (PubMed:25232734, PubMed:26974341). Secondary dendrite branches are trapped next to primary branches (PubMed:26974341). In a sax-7 (nj48) or dma-1 (wy686) mutant background, significantly less secondary dendrites are trapped (PubMed:26974341). Increased dma-1 protein levels in PVD neuron dendrites (PubMed:26974341). In addition, abnormal dendrite branches in FLP neurons, reduced axonal extension in AIY interneurons, abnormal positioning of touch receptor ALM and HSN motoneuron, formation of ectopic branching in AVL, loss of sensory AQR branching in the nerve ring, and impaired extension and formation of branches near the vulva in VC4/5 motoneurons (PubMed:26974341). RNAi-mediated knockdown at the L1 larval stage but not at the L4 larval stage causes defects in the dendritic branching of PVD neurons (PubMed:26974341)
No visible phenotype. Cul3a and cul3b double mutant is embryonic lethal (PubMed:16045478)
Morpholino knockdown of the protein causes severe defects in motor neuron axonal outgrowth
Cells exhibit normal growth, but display altered morphology and F-actin distribution. They show changes in chemotactic motility associated with increased pseudopod formation, are significantly impaired in growth under stress conditions and highly sensitive to osmotic shock
Plants display delayed flowering and altered expression of genes involved in the photoperiod flowering pathway, such as ELF4, TOC1, CO and FT
Required for expression of the stage 0 sporulation gene Spo0A, as well as for a normal heat or osmotic stress response, cells lacking this gene grow as long filaments and tend to lyse upon entry into stationary phase. Secretion of some extracellular proteins is also reduced (PubMed:9076729). Loss of biofilm formation (PubMed:22882210)
The mutants hei10-1 and hei10-2 have normal vegetative growth but exhibited complete sterility, due to shrunken and inviable pollen as well as sterile female gametes. Reduced chiasma frequency, with a random distribution among cells of remaining chiasmata, but normal early recombination events and synaptonemal complex (SC) formation
Increased accumulation of manganese and hypersensitivity to elevated levels of manganese
Cells lacking this gene exhibit significantly reduced growth in rich and minimal medium
Male mice are fertile and show no obvious abnormality. Female mice lacking Nobox have normal gross anatomy and histology, but are infertile with atrophic ovaries that lack oocytes at 6 weeks of age
Heterozygous males are completely infertile because of disrupted spermiogenesis characterized by asynchronous spermatid maturation, degeneration of late spermatids, sloughing of postmeiotic germ cells from the seminiferous epithelium, and marked reduction in the numbers of late spermatids
Conditional deletion in T-cells leads to impaired T cell-mediated immunity (PubMed:33986151). T-cell show an accumulation of tRNA fragments, which inhibit translation and promote stress-granule formation (PubMed:33986151)
Mice show reduced exploratory behavior and motor coordination, altered maze performance, and poorer memory retention. Molecular, morphological, and electrophysiological evidence of defects in dendritic arbor patterning was also seen. Secreted and membrane-bound isoforms in null mutants exerted opposite actions. The secreted isoform showed an increased neurite number, while, the membrane-bound isoform displayed a decrease in dendritic arborization. Embryos were viable, fertile and normal in other respects. Mice lacking Sez6, Sez6l1, Sez6l2 exhibited motor discordination, and Purkinje cells were often innervated by multiple climbing fibers with different neuronal origins in the cerebellum
Disruption of this gene does not affect growth in rich organic media but reduces the level of methicillin resistance by nearly 100-fold
Defective in meiosis (PubMed:28855712). Sterility due to male and female gamete developmental defects leading to disturbed embryo sac development and abnormal pollen formation (PubMed:26917763, PubMed:28855712). Strong reduction in bivalent formation at metaphase I caused by defects in meiotic double-strand breaks (DSB) formation (PubMed:26917763, PubMed:28855712). Impaired homologous chromosome synapsis and recombination (PubMed:28855712)
Deletion mutant does not contain mo5U
No visible phenotype under normal growth conditions, but mutant seeds show hypersensitivity to ABA during seed germination
In an experimental Parkinson's disease model, homozygous knockout mice lacking Minar2 display severe motor deficits such as rigidity and bradykinesia, gait abnormalities, reduced spontaneous locomotor and exploratory behavior (PubMed:32954300). Homozygous knockout mice lacking Minar2 present with rapidly progressive sensorineural hearing loss (HL) associated with a reduction in outer hair cell stereocilia in the shortest row and degeneration of hair cells at a later age (PubMed:35727972)
Completely abolishes the production of novofumigatonin as well as asnovolin A
Impairs the production of abscisic acid (ABA)
The vapB-vapC operon is not essential; cells grow faster than wild-type on rich and minimal glycerol-containing medium. The operon deletion mutants die faster than wild-type under potassium-limiting conditions, which is prevented by overexpression of vapB (PubMed:24417293). The vapB antitoxin gene can be disrupted without causing death, however despite elevated vapC transcription, no VapC protein could be detected, suggesting that RNA processing and translational coupling are important in VapC expression. A triple TA mutant (missing vapB-vapC, mazE-mazF and phd-doc TA systems) survives antibiotic challenge, suggesting the TA systems are not required to generate drug-resistant cells. However the triple mutant is more sensitive to oxidative and heat stress, and does not survive long term starvation during aerobic growth on complex medium. There is a difference in the level of branched-chain amino acids, which may play a role in monitoring the nutritional supply and physiological state of the cell
RNAi-mediated knockdown in SIA sublateral motor neurons results in abnormal sleep behavior whereby larvae display a defect in 'flipping,' which is a left-right turning behavior that occurs during sleep
Reduced number of cilia in embryonal pronephric duct and shortened primary cilia in Kupffer's vesicle. Embryos show shortened body axis and curvature, cardiac edema, small eyes, pronephric cysts and a distended cranium; shh signaling is reduced
RNAi-mediated knockdown causes sterility resulting from impaired spermatheca dilatation causing a defect in ovulation, and a severe decrease in sheath cell basal and peak ovulatory contractions (PubMed:15194811, PubMed:18369461). The few embryos laid are arrested at the embryonic stage (PubMed:18369461). Cycles of posterior body wall muscle contractions are prolonged and arrhythmic resulting in a defecation defect (PubMed:16186564). Ca(2+) oscillations in intestinal cells are arrhythmic and the whole cell current amplitude is severely reduced (PubMed:16186564, PubMed:19923421). RNAi-mediated knockdown in males causes an increase in spontaneous muscle seizures in the absence of food in an unc-103 mutant background (PubMed:18604269). Ca(2+) transient increase and avoidance behavior are defective in response to nose touch but not to benzaldehyde (PubMed:19730689). nlp-29 expression is abrogated following fungal infection by D.coniospora and severely reduced following physical injury (PubMed:19380113)
Knockouts show reduced viability with reduced growth and a shortened skull (PubMed:30973865). Mutants show increased thresholds across all frequencies associated with variable amounts of accumulated fluid and exudate containing inflammatory cells in the middle ear, suggesting predisposition to otitis media. The middle ear mucosa appear thickened with granulation tissue in sections and the luminal surface show an open Eustachian tube but abundant clusters of goblet cells with fewer ciliated epithelial cells (PubMed:30973865)
Complete loss of the intercellular adhesion phenotype
During the asexual blood stage, parasites have a slower growth, a delayed ring-to-trophozoite transition and display abnormal endoplasmic reticulum architecture and an enlarged digestive vacuole (PubMed:32432369). In infected mice, the number of male and female gametes is reduced, resulting in a severe decrease in the number of midgut oocytes and salivary gland sporozoites in the mosquito (PubMed:32432369). Sporozoites have a slight reduction in motility and the invasion of host hepatocytes is slightly delayed (PubMed:32432369). In C57BL/6 mice, parasitemia is reduced and the parasite fails to induce experimental cerebral malaria (ECM) (PubMed:32432369)
Decreased agglutination to sheep erythrocytes and survival in hamster lungs and increased sensitivity to hydrogen peroxide
In the mosquito midgut, number of oocysts is normal (PubMed:18761621). However, oocyst appears immature, enlarged, degenerated or vacuolated, and fails to sporulate resulting in a lack of sporozoites (PubMed:18761621)
RNAi-mediated knock-down is mostly embryonic lethal (PubMed:23691084, PubMed:24130834). Embryogenesis proceeds more slowly and embryos are osmo-sensitive (PubMed:23691084). Twenty-five percent of embryos exhibit cytokinesis defects (PubMed:24130834). Sixty-five percent of embryos have incorrectly positioned cleavage furrows (PubMed:24130834). Other phenotypes include delayed chromosome alignment at metaphase and disrupted endoplasmic reticulum morphology (PubMed:24130834)
Impairs the production of cytokinins, isopentenylaldehyde, trans-zeatin and cis-zeatin (PubMed:28802024)
Hypersensitivity to ABA and glucose (Glc) during and after seed germination. Altered response to blue light (BL). Abnormal roots architecture; more auxin-induced lateral roots. Reduced H(2)O(2) concentration in melatonin-treated guard cells associated with impaired abscisic acid- (ABA) and melatonin-induced stomatal aperture (PubMed:29702752)
Embryonic lethality when embryos move from the uterine tube to the uterine environment (PubMed:17557305). Conditional deletion in the liver leads to a marked increase of plasma ammonia levels, causing increased locomotion, impaired fear memory and a slightly reduced life span (PubMed:25870278). Conditional deletion in endothelial cells impairs vessel sprouting during vascular development due to defects in endothelial cell migration (PubMed:30158707)
Reduced chlorophyll, reduced height and increased tillering
A quadruple peptidase disruption (pepA, pepB, pepD and pepN) does not grow in M9 minimal medium, grows better when supplemented with casamino acids (PubMed:20067529)
Loss of the Cpx envelope stress response (PubMed:10972835). A double cpxR-cpxA mutant decreases transcription of degP (PubMed:7883164). Cells are less sensitive to killing by nalidixic acid; double cpxR-srkA disruption mutants are as sensitive to killing as single srkA mutants, suggesting the SrkA protein kinase is partially regulated by CpxR. Hypersensitive to alkaline pH (greater than pH 8.8) (PubMed:9473036). Decreased numbers of stationary phase cells bind to hydrophobic surfaces, cellular adhesion has altered dynamic properties; no induction of cpxR when cells bind to hydrophobic surfaces (PubMed:11830644)
Decreases cell adherence to silicone substrate
In cells lacking this gene, expression of the bet promoters is stimulated by osmotic stress but not by choline
Cells lacking this gene display release of repression of protease synthesis and sporulation in glucose-enriched medium
No effect on sulfate uptake, due to the redundancy with SLT1 and SULTR2. Slt1 and slt2, as well as slt1 and sultr2 double mutants show a 50% decline in uptake while the slt1, slt2 and sultr2 triple mutant exhibits no increase in sulfate uptake capacity when deprived of sulfur. Modified regulation of the SLT3 gene that becomes up-regulated by sulfur deprivation instead of down-regulated as in wild-type
Developmental defects, including loss of apical dominance, early flowering and dwarf phenotype, when homozygous (PubMed:20876339). Hypersensitivity to camptothecin and failure of DNA damage repair resulting in progressive cell death (PubMed:20876339). No visible phenotype when heterozygous (PubMed:20876339)
Not essential for normal growth
Loss of maternal and zygotic expression causes germline survival defects. Zygotic mutants show a masculinized hermaphrodite germline. At 25 degress Celsius, hermaphrodite zygotic mutants show small oogenic cells that are either arrested in pachytene or have undergone abnormal meiotic prophase progression and failed to arrest in diakinesis, often resulting in endoreduplicating oocyte nuclei
Morpholino knockdown results in disorganization of the olfactory bulbs with a significant reduction of GnRH neuronal development compared with uninjected embryos
Disruption leads to increased expression of adhesive curli fimbriae genes (PubMed:18765794), including CsgD (PubMed:19332833). Also leads to a severe reduction in swarm size and swimming velocity, and 80% reduced concentrations of c-di-GMP. Disruption of ycgR, or concomitant disruption of dosC, dgcE, dgcQ and dgcN completely restores motility, suggesting these 4 genes, together with this c-di-GMP phosphodiesterase, form a network that regulates cell motility by altering levels of c-di-GMP (PubMed:20303158). Overlapping but different results were seen by another group, where disruption of dgcJ, another probable diguanylate cyclase, partially suppresses the pdeH disruption, full suppression requires concomitant disruption of dgcJ, dgcQ and dgcE (PubMed:18765794)
Knockout mutant is severely compromised in growth on amino acid deficient media and exhibits global transcriptional dysregulation of biosynthesis and transmembrane transport, leading to a loss of lipids and increased membrane permeability (PubMed:33772870). Disruption mutant is more sensitive to the wide range of aminoglycosides (kanamycin, apramycin, sisomicin, streptomycin and dihydrostreptomycin), but is more resistant to tetracycline antibiotics (tetracycline and penimepicycline), drugs affecting 30S subunit of ribosomes (PubMed:29163430). Disruption also affects respiration and electron transport (PubMed:29163430). The rRNA expression levels are not affected (PubMed:29163430). Does not affect growth and survival in a nutrient-rich medium (PubMed:29163430, PubMed:33772870)
Deletion of the gene leads to a strong decrease in intracellular growth in human monocytes (PubMed:11115108). Mutant is unable to evade phagosome lysosome fusion, but retains the pore-forming activity (PubMed:11115108). Mutation severely impairs the translocation into host cells of multiple effector proteins, including SidA, SidB, SidC, SidD, SidE, SidG, SidH, WipA and WipB (PubMed:15661013, PubMed:18069892). Loss of this gene has a profound effect on the levels of IcmW (PubMed:17040490)
Not essential. Accumulation of precursor forms of 5S rRNA in total, ribosomes and polysome RNA preparations; smaller forms (126 and 135 nucleotides) are predominantly found in ribosomes and polysomes. Each of the 10 rrn operons gives rise to a different 5S rRNA precursor due to differences in their 3' ends
Significant reduced tiller number, enhanced culm strength, increased panicle branch numbers and reduced grain size
Spores have no muramic delta-lactam structure in the cortex and cannot germinate. Mutant spore peptidoglycan possesses many MurNAc residues lacking peptide side chains
Reduced size in non-mature plants, delayed panicle heading, reduced seed number and low seed fertility
Viable and fertile (PubMed:16203113). Larvae develop normally but show increased oxidative stress-induced cell death (PubMed:23593018, PubMed:30540251). Larvae show structurally normal neuromuscular junctions, however they fail to show structural synaptic plasticity in response to oxygen species (ROS) levels (PubMed:30540251). Adult flies show severe defects in locomotor ability without loss of dopaminergic neurons and increased sensitivity to oxidative stress (PubMed:16139214, PubMed:16203113, PubMed:23593018). Results in altered subcellular localization of Daxx (PubMed:23593018). Does not show more elevated levels of methylglyoxal adducts than controls (PubMed:27903648). Double knockouts for dj-1beta and dj-1alpha is viable but with reduced male fertility (PubMed:16139213, PubMed:20457924). Double knockouts for dj-1beta and dj-1alpha is more sensitive to chemical agents that induce oxidative stress (PubMed:16139213). Double knockouts for dj-1beta and dj-1alpha shows reduced lifespan and decreased spontaneous movement over time (PubMed:20457924). Double knockouts for dj-1beta and dj-1alpha spermatozoa are morphologically normal but immotile with abnormal vacuoles in the Nebenkern, abnormal mitochondria and aberrant separation of investment cones during sperm individualization (PubMed:20457924). Double knockouts for DJ-1beta and Daxx restore normal number of dopaminergic neurons, locomotor activity and sensitivity to oxidative stress and UV-induced damage (PubMed:23593018)
Mutant shows a 2-fold reduction in bacillithiol levels. BshB1/bshB2 double mutant does not produce bacillithiol
Deletion leads to defects in cell shape and polar peptidoglycan synthesis. It also compromises polar localization of Wag31
No visible phenotype, due to the fact that PDK2-deficient mice have increased PDK1 levels (PubMed:21411764). Mice have lower blood glucose levels in the fed state, but not after fasting. Likewise, they display increased pyruvate dehydrogenase activity in liver and skeletal muscle in the fed state, but not after fasting. Fasting mice lacking both PDK2 and PDK4 show strongly decreased blood glucose levels, increased circulating ketone body levels leading to ketoacidosis with dangerously low blood pH levels, hypothermia, and ultimately death (PubMed:22360721)
Leads to elongated cell phenotype
Loss of Dlg4 ubiquitination
Abolishes the production of azasperpyranone A
Mice have walking difficulties. Histologic examination shows thinned sciatic nerves and neurogenic muscular changes, including small angular fibers and small group atrophy. Electrophysiologic studies show delayed motor nerve conduction velocities compared to controls. COX activity and ATP contents in liver cells are decreased
Leads to the production of phospholipomannan with short truncated oligomannosidic chain and impairs induction of TNF-alpha production in macrophages
Relieves catabolite repression of gapB and pckA transcription. Disruption is epistatic over a yqfL deletion
Prevents vacuolar accumulation of autophagosomes and affects survival during carbon starvation
Mice show small differences in body weight, but are visibly and histopathologically normal for up to 1 year of age. Simultaneous knockout of P2rx2 and P2rx3 results in reduced pain-related behaviors in response to intraplantar injection of formalin and reduced urinary bladder reflexes and decreased pelvic afferent nerve activity in response to bladder distension. Neurons have minimal to no response to ATP (PubMed:15961431). P2rx2 null mice show impaired peristalsis in ileal segments of small intestine (PubMed:12937291). P2rx2 null mice show disorganized neuromuscular junctions (NMJ) with misapposition of nerve terminals and post-synaptic AChR expression localization, reduction of the density of post-synaptic and increased end-plate fragmentation. These changes in NMJ structure are associated with muscle fiber atrophy and an increase in the proportion of fast type muscle fibers (PubMed:17706883). P2rx2 null mice display age-related hearing loss: in the absence of exposure to noise, auditory thresholds are normal until at least age 19-23 week. Then, mice develop severe progressive hearing loss, and their early exposure to continuous moderate noise leads to high-frequency hearing loss as young adults (PubMed:23345450). Simultaneous knockout of P2rx2 and P2rx3 results in defects in taste responses in the taste nerves and reduced behavioral responses to sweeteners, glutamate and bitter substances (PubMed:16322458)
Knockout mice have significantly reduced brain weight, impaired neurofilament expression and decreased white matter volume, but normal total body mass. They show increased susceptibility to seizures and reduced anxiety-related behaviors compared with wild type littermates, as well as defective hippocampal gene expression and deficits in synaptic transmission and plasticity in the dentate gyrus
Pronuclear migration does not occur in activated eggs. Defects in spindle structures (abnormally shaped spindles, spindle spurs, ectopic spindles associated with lost chromosomes and mispositioning of the meiosis II spindles) correlated with very high frequencies of chromosome non-disjunction and loss. The polar body nuclei do not associate with their normal monastral arrays of microtubules, the sperm aster is reduced in size, and the centrosomes often dissociate from a mitotic spindle that forms in association with the male pronucleus
No visible phenotype under normal growth conditions, but mutant plants are insensitive to seedling growth inhibition in response to the pathogen-associated molecular pattern (PAMP) elf18 and show increased susceptibility to phytopathogenic bacteria
Shortened lifespan, impaired locomotor behavior, and increased sensitivity to deleterious effects of stressors such as reactive oxygen species and nutrient deprivation. Locomotor anomalies include righting defects, reduced and uncoordinated walking behavior, and compromised flight
Decreases cellular trehalose level (PubMed:16946258). Sensitive to thermal stress (PubMed:16946258). Abnormal conidial germination on glucose or fructose carbon sources (PubMed:16946258)
Seedling lethal when grown on soil. On agar plates supplied with sucrose, seedlings grow very slowly with a chlorotic phenotype. Deficiency in the accumulation of the subunits of the cytochrome b6f complex and lack of covalent heme binding to cytochrome b6
No visible phenotype under normal growth conditions. Apy1 and apy2 double mutant displays developmental defects including the lack of functional root and shoot meristems, and morphogenetic and patterning abnormalities of the cotyledons. Double mutant exhibits a complete inhibition of pollen germination
A white non-sporulating phenotype. Spore septation does not occur
Knockout mice demonstrate a statistically significant departure from Mendel's law, but there is no significant differences in their weights or appearance as compared to wild-type controls as newborns. At 5 weeks of age, male mice show reduced weight and size as compared to control animals. This phenotype is not observed in females. Mutant animals exhibit increased fasting glucose levels and impaired glucose tolerance, probably due to impaired insulin granule exocytosis by pancreatic islet cells (PubMed:23776622). At 3 months of age, serum triglyceride and free fatty acid levels increase in knockout mice fed on normal chow. Mice gradually develop hepatic steatosis, with varying degrees of inflammatory changes (PubMed:27233614)
RNAi-mediated knockdown in dopamine neurons increases dopaminergic mRNA levels of srl and its downstream transcription factors ewg and TFAM, and also results in a significant increase in mean lifespan (64 days) compared to controls (60 days) (PubMed:27819722, PubMed:32138754). However, it has no effect on mitochondrial abundance, neuronal survival or climbing performance (PubMed:32138754). Double knockdown with park or Pink1 in the dopamine neurons, improves climbing performance defects and rescues decreased mRNA levels of srl, ewg and TFAM in the single park or Pink1 mutants (PubMed:32138754). RNAi-mediated knockdown in the eye has no significant effect on ommatidia or bristle number (PubMed:32138754)
No visible phenotype. Mutants exhibit normal posterior body contractions
Loss of photosynthetic growth, cells grow normally on a reduced carbon source. While all other PSII subunits are synthesized and are inserted into thylakoids, they do not accumulate
Mutants display defects in dorsal closure, resulting in a cuticle that resembles an open shoe. Therefore the protein was given the name Slipper
Abolishes cytoplasmic neutral trehalase activation during thermal stress; activation during osmotic stress is normal (PubMed:9729425). Decreases cellular trehalose 6-phosphate level in stationary phase and during thermal stress (PubMed:8021171). Sensitive to heat shock and osmotic stress (PubMed:9495778)
Cells lacking this gene lose the ability to utilize ethanol as the sole growth substrate (PubMed:31113891). They are unable to produce PMFT(H2) and glycosylated (methyl)MFT(H2), and accumulate AHDP and glycosylated AHDP (PubMed:33014324)
Mice spontaneously develop tumors with a mean latency around 80 weeks. The most common tumor types are pulmonary adenomas, adenocarcinomas, hepatocellular tumors, B-cell lymphomas and vascular tumors. The protein appears to be haplo-insufficient for tumor suppression, as heterozygous animals are also prone to spontaneous tumor development. Mice lacking this protein also exhibit enhanced susceptibility to tumor induction by activated Ras or the application of dimethylbenzanthracene (DMBA) or ionizing radiation. Early passage murine embryonic fibroblasts (MEFs) from animals lacking this protein are susceptible to transformation by activated Ras alone due to functional inactivation of the ARF-p53 pathway. Late passage MEFs from animals lacking this protein escape senescence without disrupting CDKN2A/ARF or p53 function
Null mutants were born alive but most of them died within one day. The olfactory bulbs were smaller than those of their wild-type at 18.5 dpc and at postnatal day 1. At 14.5 dpc and 18 dpc no abnormalities in the morphology of the telencephalon or diencephalon were detected. There seems to be a redundant role for FEZF1 and FEZF2 in diencephalon development
Essential; deletion experiments lead to loss of inner membrane protein targeting. Also leads to reduced targeting of lipoproteins Lpp and BRP
Embryos die at midgestation. Embryos exhibit multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system and abnormal anterior-posterior patterning of the limbs resulting in severe polydactyly. Fewer and shorter cilia are present in mutant embryos. In mice lacking both Intu and Fuz, the lack of convergent extension and more severe patterning defects in Intu and Fuz mutants does not result from a functional redundancy between these proteins
Loss of function induces an egg-laying defect from the second day of adulthood with progeny arrested at the larval stage L1. The small larvae maintain morphological integrity and survive for up to 3 to 4 days. Animals had reduced levels of isoheptadecanoate (C17iso) and isopentadecanoate (C15iso). The phenotype could be fully suppressed by feeding with C17iso and partially suppressed by feeding with C15iso
Disturbed levels of several metabolites (e.g. beta-alanine, aspartate, pyroglutamate, glutamate, glutamine, alpha-ketoglutarate, palmitate and shikimate)
Leads to complete abolishment of isoquinoline alkaloid production and accumulation of a series of benzyl pyrroles, including fumipyrrole
Expression of ameloblastin AMBN is significantly reduced in the tooth germ of postnatal day 1 (P1) molars, but ASCL5/AmeloD expression is not altered
Following a stab wound brain injury, mice show reduced extracellular matrix deposition at the injured gray matter and reduced astroglial scar in the cerebral cortex (PubMed:29632244). The injury site shows an absence of invading monocytes, significantly increased astrocyte proliferation and a decrease in extracellular matrix synthesizing enzymes (PubMed:29632244). Following traumatic brain injury, mice exhibit markedly reduced early macrophage infiltration, improved locomotor activity, improved spatial learning and memory retention and increased neuronal density in the CA1-CA3 regions of the hippocampus (PubMed:24806994). Mice show impaired thymic emigration with a concomitant accumulation of mature thymocytes in the thymus (PubMed:29930553)
Enhanced apoptotic-like cell death late in development
Incapable of growth on glycerol. Causes a reduction in growth on dihydroxyacetone
Frequent early postnatal lethality. Survivals are runted accompanied with mature sperm exhibiting defective forward motility
Mutant animals have a progressive high-frequency hearing loss (PubMed:26881968). They show swelling of afferent terminals and abnormal expression of AMPA receptor subunit at post-synaptic densities (PubMed:26881968). Mice are fertile and show no other abnormalities (PubMed:26881968)
Mice show a complete disruption of the assembly and function of the neuronal acetylcholine receptor (nAChR) subunit alpha-7 (CHRNA7) in the brain (PubMed:26875622, PubMed:32204458). Exhibit enhanced locomotor activity, profound abnormalities in spatial/working memory and a significant reduction of assembled nAChRs in the brain (PubMed:28445721). Display thermal hyperalgesia and mechanical allodynia accompanied by an increased number of microglia in the spinal cord dorsal horn (PubMed:33422618). Exhibit elevated basal serum corticosterone accompanied by increased anxiety-like behavior and an impairment of long-term memory (PubMed:27170659)
Knockout mice are viable and fertile with no overt phenotype (PubMed:16174740). They tend to be lighter than their wild-type littermates, with reduced adiposity (PubMed:26584636, PubMed:27322061). On a high-fat diet, they show a reduced gain in body weight compared with wild-type littermates (PubMed:27322061). Mutant animals display improved serum biochemistry profiles compared to wild-type, with lower fasting glucose, insulin and triglyceride levels, particularly on high fat diet (PubMed:26584636, PubMed:27322061). On a high-fat diet, brown adipose tissue from knockout mice shows reduced lipid content and subcutaneous white adipose tissue contains smaller, less lipid replete adipocytes, with increased thermogenic markers (PubMed:26584636). Mutant animals exhibit an increased production of soluble APP and enhanced amount of neuron-associated amyloid-beta protein 40 and 42 in the brain at 10 months of age (PubMed:16174740). Following vascular injury, knockout mice placed on a high-fat diet show reduced intimal thickness and decreased infiltration of lipid-laden macrophages compared to wild-type littermates (PubMed:17332490). Mutant mice display elevated GDNF levels, altered dopaminergic function, marked hyperactivity, and reduced anxiety (PubMed:23333276). Knockout mice show a weak phenotype in the maintenance of renal ion balance. Under basal conditions, they exhibit significant urinary loss of potassium and calcium compared to controls. Serum Na(+), Cl(-), and K(+) levels are normal, but aldosterone levels are elevated 2-fold. Mean arterial blood pressure is decreased despite the hyperaldosteronemic phenotype (PubMed:20385770). The lack of major renal phenotype in mutant mice may be explained by the fact that animals remain responsive to vasopressin endocrine stimulation (PubMed:25967121)
Knockout aninmals are viable and present at the expected Mendelian ratio. They do not exhibit any overt abnormalities. Female mice exhibit dispersal of the cytoskeletal sheets in oocytes that lead to a failure of zygotes to progress beyond the 2-cell stage and infertility (PubMed:17587491). Male fertility is not affected (PubMed:17587491)
Depletion causes defects in processing of pre- rRNA and assembly of ribosomal subunits
Dramatic increase in root nodule number when inoculated with Mesorhizobium loti (PubMed:30351431). Inhibition of root and shoot growth (PubMed:30351431)
Disruption mutant is sensitive to oxidative stress and exposure to toxic transition metals (PubMed:35745538). In a human monocyte (THP-1) cell infection model, mutant shows reduced uptake and intracellular survival and increased expression of pro-inflammatory molecules, including IL-1 beta, IP-10, and MIP-1 alpha (PubMed:35745538). In a guinea pig model of pulmonary infection, mutant displays growth attenuation in the lungs (PubMed:35745538). Knockdown of the gene leads to increased sensitivity to peroxides such as cumene hydroperoxide and hydrogen peroxide (PubMed:27818650)
Reduced growth and survival in presence of oxygen reactive species
Cells lacking this gene show high-level specific activities of acetate kinase (Ack), phosphotransacetylase (Pta), isocitrate lyase (AceA) and malate synthase (AceB) irrespective of the substrate (PubMed:15090522). The transcription level of the rpf2 gene is increased 20-fold in the ramB deletion mutant during growth on acetate as the sole carbon source (PubMed:18355281)
Reduced protochlorophyllide levels in darkness and less photobleaching in the light
Leads to osmotically suppressible basal growth defects and cationic tolerance associated with increased expression of calcineurin pathway genes (PubMed:20097742). Results in hypersensitivity to cell wall inhibitors but does not affect virulence (PubMed:20097742). Leads to severe polarity defect, hypersensitivity to ER stress, and attenuated virulence; when srcA is also deleted (PubMed:32487759)
F1 adults accumulate eggs in the uterus. Embryos are predominantly arrested at the bean/comma embryonic stage
Half of the mice dies before weaning. They display reduced ability to concentrate urine, a lower blood pressure, and skeletal abnormalities. Despite a reduced half-life of NPPA in the circulation, the plasma levels of NPPA and NPPB are not affected
Decreased cell wall xylose
Knockout animals exhibit normal growth of their body and eye lens. However, the disappearance of mitochondria and the endoplasmic reticulum in the lens is almost completely suppressed and membranous structures persisted in the lens central region
Late flowering
Resulted in loss of trypacidin production (PubMed:26278536, PubMed:26242966)
Cells lacking this gene are still able to produce 4-hydroxy-3-methylbenzoic acid and 4-hydroxybenzoic acid
Does not affect growth neither nitrogen starvation-induced ER-phagy, but abolishes DTT-induced ER-phagy
Mice display greatly reduced ATP levels in sperm, severely impaired sperm motility and are infertile
Abolishes the production of ochratoxin A and accumulates the intermediate ochratoxin beta
Homozygous mutants are chlorotic lethal when grown on soil, but can grow on sucrose-containing medium
Deletion of the gene results in the modulation of the expression of many important genes, probably indirectly due to an excess of the crucial molecules acetate, ammonia, and fructose-6-phosphate, resulting from complete hydrolysis of GlcNAc (PubMed:21602348). Disruption of the gene induces a slight but consistent increase in MapB activity (PubMed:16207374)
Knockdown of the expression in mice through ENU-induced stop codon in the gene or targeted knockout of the gene result is similar phenotypes (PubMed:20548961). Mutant mice are normal at birth, but by postnatal day 7 appear smaller (PubMed:20548961). They display generalized hypotrichosis and hair loss with altered skin that is loose with wrinkling and folding (PubMed:20548961). Kyphosis and osteoporosisis are also observed (PubMed:20548961). Finally, a generalized amyloid deposition results in early death (PubMed:20548961)
Impaired chloroplast accumulation and slow avoidance movement under strong blue light (PubMed:20418504). Double mutant kac1kac2 exhibits an increase in leaf transmittance and a partial defect in nuclear avoidance response under strong blue light exposure (PubMed:27310016)
Single gene deletion, no effect on magnetic response or MamK filaments, gaps form in the magnetosome chain. A double mamJ/limJ deletion has wild-type magnetic response, but forms large gaps in the magnetosome chains reminiscent of the mamK deletion. MamK forms bundles in these gaps, but the MamK filaments are no longer dynamic (PubMed:21883528). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
Loss of DNA conjugation when disrupted in recipient strain (MKD8), no effect when disrupted in donor strain (mc(2)155) (PubMed:18554329). The recipient strain does not secrete EsxB (PubMed:18554329). Disruption of the probable saeA-saeB-saeC operon completely blocks polar localization of EccCb1 (PubMed:22233444)
RNAi-mediated knockdown shows aberrant neuromuscular junctions in the larval muscle and abnormal wings, locomotive defects and a shortened lifespan in the adult. RNAi-mediated knockdown in the nervous system results also in aberrant neuromuscular junctions characterized by reduced number of type Ib boutons and increased bouton size in the larval muscle
Reduced survival with the majority of mutants dying during embryonic development and only 23.5% of mutants living to postnatal day 21 (PubMed:34723967). Surviving newborns are smaller and lighter than their wild-type littermates (PubMed:34723967). Newborn brains display decreased cortical thickness and enlarged ventricles (PubMed:34723967)
A double secD and secF deletion grows very poorly on solid medium at 45 degrees Celsius, confers a severe cold-sensitive growth phenotype (30 degrees Celsius), as well as having defects in Sec-dependent protein translocation. Has no effects on Sec-independent Tat substrate protein export
Pab2 and pab4 double mutants show significant growth and development defects and more resistance to Turnip mosaic virus (TuMV)
No growth on standard medium. Growth can be restored by the addition of exogenous beta-alanine or coenzyme A, but not by the addition of GABA
Pale-green leaf phenotype
Strains lacking this gene show a reduction in growth stimulation by the catecholate siderophores enterobactin and bacillibactin
No longer toxic to CHO cells when deletion construct is coexpressed with subA (PubMed:15226357)
Mutant lacking this gene fails to grow on both glycerol-3-phosphate and glycerol-2-phosphate
Growth retardation, narrow and dark-green leaves with elongated petioles, root growth inhibition and reduced fertility. The double mutant atgk1 and atgk2 is lethal
Altered response to blue light (BL) and abscisic acid (ABA)
Homozygous knockout mice are viable and fertile with no significant difference in weight (PubMed:20657643). However, long-term potentiation (LTP) and cognitive functions including spatial and long-term memory are affected in these mice (PubMed:20657643). A decrease in the total length of neurites and branches together with a reduced number of neurite spines are observed (PubMed:20657643)
20-40% of cells exhibit morphogenetic aberrations represented by irregular, uneven, or overdeposition of septum material as well as septation and cell separation defects, often resulting in pseudofilamentous or multiseptated cells, suggesting a failure of cytokinesis in those cells. Cultures of null mutant cells did not appear to exhibit a growth arrest
No visible phenotype (PubMed:19737747, PubMed:22829780). No defect in the positioning of ASI and ASH neuron cell bodies (PubMed:22829780). No defect in the positioning of PQV, PVP, RMEV, HSN adn AVK axons in the ventral nerve cord (PubMed:19737747). In a zig-1, zig-3, zig-4 or zig-5 or zig-8 mutant background, cell body positioning of ASI and ASH head neurons is normal (PubMed:22829780)
Mutant mice for isoform 1 appear viable and comparable to their wild-type littermates in growth characteristics, reproductive performance and general health (PubMed:20502675). At 2 and 9 months of age, knockouts show a profound hearing loss across all cochlear frequencies (PubMed:20502675). At 28 to 33 months, they show signs for retinal degeneration such as a thinner photoreceptor nuclear layer and outer segments shortened (PubMed:20502675)
Mice in a C57BL/6J x 129/Sv strain background die several hours after birth (PubMed:9382874). Mutant mice do not feed and are hypoactive and markedly hypotonic (PubMed:9382874). Cells show defects in peroxisomes, characterized by an accumulation of very long chain fatty acids in plasma and deficient erythrocyte plasmalogens (PubMed:9382874). A significant proportion of mice in a Swiss Webster x 129/SvEv strain background survive 7-14 postnatal days (PubMed:12746876). Surviving mice display defects in cerebellar growth, characterized by a reduced granule neuron population, abnormal Purkinje cell dendrite development (PubMed:12746876). Peroxisome deficiency increases cell death in the developing cerebellum (PubMed:12746876). Defects in peroxisomes cause impaired hepatic cholesterol homeostasis (PubMed:14673138, PubMed:19110480). Peroxisome deficiency activates hepatic endoplasmic reticulum stress pathways, such as the integrated stress response (ISR), leading to dysregulation of the endogenous sterol response mechanism and subsequent SREBF2 activation (PubMed:19110480, PubMed:22441164). Conditional deletion in brain of adult mice leads to impaired BDNF signaling, resulting in memory defects (PubMed:33163488)
Strongly reduced fertility and seed numbers due to defects in male and female gametogenesis
Deletion mutant mice demonstrate anxiety-like behavior in comparison to WT mice (PubMed:25772794). In addition, they show impaired cognitive function (PubMed:28202615)
Cells grow normally until development occurs. Then they make a significantly increased proportion of prestalk cells, and develop fruiting bodies with short thick stalks and glassy sori with less than 5% normal spores. They have an increased content of pstA-type prestalk cells. Intracellular levels of inosine increase dramatically during development. This is cell autonomous, as the presence of equal numbers of wild-type cells does not alter the cell type proportion nor improve sporulation. Overexpression of the gene has no apparent effect on development (PubMed:11784104). Mutants lacking amdA form aspidocytes (a cell type able to resist detergent lysis and which are also resistant to some antibiotics) more readily than wild-type cells; their induction may involve AMP or other purine metabolites (PubMed:17259634)
Fishes show ciliary defects. In retina, cilia are generated but not maintained, producing the absence of photoreceptor outer segments. A loss of cilia also occurs in auditory hair cells and olfactory sensory neurons. In all 3 sense organs, cilia defects are followed by degeneration of sensory cells
No visible phenotype under normal growth conditions, but dry seeds of mutant plants accumulate the precursors of the two major storage proteins albumin 2S and globulin 12S (PubMed:17194767). Increased sensitivity to salt stress, osmotic stress and abscisic acid (ABA) during germination and vegetative growth (PubMed:23025793)
Sensitive to methyl methanesulfonate (MMS, causes DNA breaks) and hydroxyurea (HU, ribonucleotide reductase inhibitor)
Does not affect growth on D-xylose as sole energy and carbon substrate
Embryos are viable in pre-implantation period, show complete loss of NMD but are resorbed shortly after implantation
In ntl8-1, no discernible phenotypic changes except slight differences in lateral root growth and flowering time, as well as reduced lateral root growth rate. Insensitive to high salt
Mice with a Schwann cell-specific gene disruption show no obvious impairment of nerve conduction velocity and display no visible defects of their motor skills. After six months, about 6% of their nerve fibers present myelination defects, including myelin outfoldings, focal hypermyelination, and onion bulbs with thin myelin and supernumerary Schwann cells. At the molecular level, Schwann cell-specific gene disruption impairs formation of Cajal bands and location of Prx in patches that colocalize with appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Cytoplasm from mutant Schwann cells forms an annulus under the cell membrane, insted of being strictly compartmentalized. Besides, mutant nerves display increased numbers of Schmidt-Lanterman incisures
A mutant lacking both fpuB and fatCD permeases is incapable of using petrobactin as an iron source and exhibits attenuated virulence in a murine model of inhalational anthrax infection
Loss of repression of its operon
Morpholino knockdown of the protein leads to a severe reduction in the size of the caudal hematopoietic tissue at 72 hpf, a strong reduction in the number of myb-positive hematopoietic stem cells, and results in impaired definitive hematopoiesis. Contrary to wild-type, the expression of monocyte, macrophage and lymphoblast markers is strongly reduced. Likewise, hemoglobin levels are strongly reduced, suggesting impaired erythropoiesis
Results in higher sensitivity to oxidative stress, reduced thermotolerance, accumulation of higher levels of reactive oxygen species, and reduced chronological life span
Impaired raffinose accumulation in response to heat stress
Impairs biofilm formation and shows reduced virulence in a mouse model of hematogenously disseminated candidiasis (HDC) and using reconstituted human epithelium (RHE)
Worms exhibit a starved appearance, are unable to swallow food and die at the L1 larval stage (PubMed:12835395). RNAi-mediated knockdown causes significant reduction in expression of mec-17 (PubMed:30291162)
Altered synaptic transmission at early developmental stages
Asexual blood stage is normal (PubMed:34119684). Female and male gametocytes are formed but fail to develop into mature ookinetes (PubMed:34119684). Zygote development is arrested at the ookinete retort stage; however, meiotic replication proceeds normally (PubMed:35947628). In the zygote, transcription of several genes is affected (PubMed:35947628). Infection of mosquitos with knockout parasites results in a lack of oocyst formation (PubMed:34119684)
Conditional knockout in liver results in decreased long-chain fatty acids (LCFA) uptake by hepatocytes and decreased peroxisomal long chain and very long-chain acyl-CoA synthetase (VLACS) activity
Does not grow on minimal medium. Requires alpha-aminoadipate or lysine for growth
Mutant mice are born at the expected Mendelian rate, appear normal and are fertile. They do not display notable alterations in motor coordination and startle response, or other neuromotor defects. Glycinergic postsynaptic inhibitory currents in spinal cord appear unchanged, but are not inhibited by prostaglandin E2, contrary to what is observed with wild-type. Basal nociception is unchanged, but contrary to wild-type, mutant mice do not display increased sensitivity to pain after prostaglandin E2 injection. Likewise, they show a more rapid decrease of the increased pain sensitivity caused by agents that cause local inflammation, such as subcutaneous zymosan injection (PubMed:15131310). Mutant mice display altered phrenic nerve activity, resulting in an irregular breathing rhythm that affects especially the duration of the postinspiratory phase. Contrary to wild-type, their respiratory rhythm is not accelerated by serotonin (PubMed:20978350)
Essential for viability (PubMed:9882657). Knockdown of the enzyme increases sensitivity to caspofungin, activates the cell wall integrity pathway, and decreases virulence in the host lung (PubMed:35506343)
Able to assemble functional PSII, however electron flow is deregulated; forward flow from Q(A) to plastoquinone is slower while reduction of the oxygen evolving complex is faster, loss of light-activated, redox-dependent phosphorylation of LCHII, plants senesce quickly (PubMed:11546758, PubMed:12655396, PubMed:14979726). Plants are hypersensitive to light, cannot grow photoautotrophically and have drastically reduced oxygen-evolving capacity. Dramatic reduction in PSI subunits, almost complete loss of PsbP, a subunit of the oxygen-evolving complex (PubMed:11827973)
Homozygous knockout mice lacking Slc39a5 display normal fecondity and seem normal
No effect on cell growth, significantly reduces export of the cell wall protein SraP. The small amount that is exported seems to be glycosylated normally. A double secG/secY2 mutant enters stationary phase earlier and has significant differences in the export pattern of a number of extracellular proteins (shown in RN4220). Single or double deletions are as virulent as wild-type (shown in RN4220 and SH1000)
Increased lifespan, slower growth rate, reduced egg-laying and reduced fertility (PubMed:22232551, PubMed:22792076). Defective locomotion and chemotaxis (PubMed:22232551, PubMed:25391662). Increased sensitivity to osmotic and oxidative stress (PubMed:22792076). Increased intronic A-to-I RNA editing and splicing abnormalities, which may contribute to the increased accumulation of double-stranded RNA observed in the nucleus of multiple tissues including gut, muscle and the anterior head region (PubMed:25391662)
No visible phenotype when grown under normal conditions but hypersensitivity to salt stress
RNAi-mediated knockdown specifically in pHCl-2 expressing enterocytes delays pupariation and reduces food intake. However, knockdown in other enterocytes has no effect on developmental timing
Embryonic lethality before 7.5 dpc. Impaired proliferation of the inner cells of the blastocyst due at least in part to increased apoptosis
Lethal phenotype at the seedling cotyledon stage that are small and chlorotic, with disorganized veins, swollen root hairs, and altered epidermal cell morphology. Altered RNA decay
Embryonic death with a strong defect in neural tube closure and apparent cardiac failure
Deletion mutant together with deletion of its cognate immunity protein Tsi5 leads to a significant loss of fitness advantage when placed in competition with parental strains
No visible phenotype, probably due to the redundancy with 3AT1
Disruption of the rtcA gene does not affect growth
Leads to cell death and induction of the SOS pathway. Additional disruption of ccdB reverses this effect, i.e. no cell death nor induction of the SOS response. The double disruption leads to increased plasmid loss
Impairs proper nucleus dividing and distribution to the dividing cells. Leads to hypersensitivity to amphotericin B, fluconazole and caspofunginreduced; and to reduced virulence in the C.elegans and the G.mellonella infection models
No visible phenotype. Loss of O-acetylated xyloglucan oligosaccharides in roots and rosette leaves, but no effect on xyloglucan O-acetylation in seeds
Defects in embryo development, seedling germination and early growth. Pale interveinal phenotype due to marked reduction in the density of mesophyll cells in interveinal regions of leaves
More vigorous root growth, decreased abaxial stomatal index and increased stomatal aperture. Reduced induction of RD29B and RAB18 expression in response to treatment with abscisic acid (ABA) (PubMed:26443375). In the double mutant map3k17 map3k18, impaired MPK7 activation mediated by ABA (PubMed:25720833)
Impaired energy-dependent nonphotochemical quenching (NPQ, qE) in high light conditions leading to an increased susceptibility to photoinhibition (PubMed:17459330, PubMed:21804028, PubMed:22413771, PubMed:25342550). Reduced seeds production (PubMed:21804028). Reduced photosynthetic CO(2) assimilation in high light intensity (PubMed:22413771). Accumulation of superoxide and hydrogen peroxide in chloroplasts (PubMed:25342550). Accelerated cyclic electron flow (CEF) due to an alternate PGR5-dependent CEF pathway confering a photoprotection of photosystems in the absence of energy-dependent quenching (qE) (PubMed:25306526). Plants missing both PSBS1 and PSBS2 exhibit a decreased light-inducible portion of thermal dissipation (TD), including energy quenching (qE)-associated TD (qE-TD) (PubMed:21873330, PubMed:24850835). Plants missing both PSBS1 and PSBS2 have a higher quantum yield of electron transport upon the transition from high light to low light, but a lower quantum yield of electron transport II upon the transition from low light to high light (PubMed:24850835)
Deletion mutant is fully chemotactic and forms swarms the same way as wild-type strain (PubMed:11535789). Mutant shows however defects in mouse colonization (PubMed:19332820)
Mutation impairs pellicle formation, complex colony architecture and motility inhibition in a sinR mutant background
Impaired sensitivity to jasmonic acid (MeJA)
Embryos show defects in otolith formation in the inner ear, but no other overt morphological changes
Increased number of root nodules when inoculated with Mesorhizobium loti (PubMed:12442170, PubMed:12442172). Inhibition of shoot and root growth (PubMed:12442170, PubMed:12442172). Increase in arbuscular mycorrhizal (AM) fungus colonization intensity in roots (enhanced mycorrhizal phenotype) when inoculated with AM fungi (PubMed:12442170, PubMed:12442172)
Increased H3 'Lys-9' and 'Lys-36' trimethylation levels on meiotic chromosomes leading to trigger p53-dependent germline apoptosis (PubMed:16603238). In spr-5 null mutants, suppresses the progressive sterility over generations which is seen in spr-5 mutants (PubMed:24685137). RNAi-mediated knockdown results in extended lifespan (PubMed:22212395)
Cells lacking this gene have a cell wall that shows a complete absence of arabinose resulting in a truncated cell wall structure possessing only a galactan core with a concomitant loss of cell wall-bound corynomycolic acids
Up-regulated expression of GLP2A/GLP5A due to derepression associated with H2B hyperubiquitination of the target chromatin and H3K4 hypermethylation (PubMed:21690391). Abnormal hallmarks of euchromatin including H3 hyperacetylation, H2B monoubiquitination and H3K4 trimethylation in the gene encoding OSR2 leading to its increased expression (PubMed:27999174). Repressed expression of the AN3 gene associated with epigenetic modification (e.g. H2B hyperubiquitination and reduced H3ac and H3K4me) of its chromatin (PubMed:28703681)
Mice develop normally until E9.5, and then display growth arrest and embryonic lethality by 11.5 dpc
Leads to hyperfilamentation, increased biofilm formation and reduced virulence in a mouse model of disseminated candidiasis. Leads also to increased susceptibility to antifungals (fluconazol, posaconazol or amphotericin B) that target the plasma membrane and to altered sensitivities to environmental (heat, osmotic and oxidative) stresses
Cells lacking this gene lose the ability to glycosylate substrate proteins and their glycoproteome is highly affected
Impairs growth on L-tyrosine as the sole carbon source and affects homogentisic acid and pyomelanin formation (PubMed:19028908, PubMed:19715768). Leads to increased sensitivity to reactive oxygen intermediates (PubMed:19028908)
Male sterility because of spermiogenic arrest at the round spermatid stage, with occasional failure in meiotic prophase. Effects are due to demethylation and subsequent derepression of transposable elements: germ cells fail to repress LINE-1 (L1) retrotransposons with DNA-demethylated promoters. Defects in chromatoid body (CB) and pi-body assembly are also observed. Interestingly, Tdrd5-deficient round spermatids injected into oocytes contribute to fertile offspring, showing that acquisition of a functional haploid genome may be uncoupled from Tdrd5 function
Embryonic lethal (PubMed:23028364). Mutants display dumpy and blistered cuticle phenotypes (PubMed:23028364). Blisters contain unidentified cellular material (PubMed:23028364, PubMed:25480962). Resistant to iodide toxicity (PubMed:25480962). RNAi-mediated knockdown results in the lethality of more than 95% of progeny at the larval stage (PubMed:15454573). Most larval arrest occurs at the L4 larval stage and is characterized by body swelling and abnormal epidermal morphology, which includes blistering of the cuticle (PubMed:15454573, PubMed:25480962). The few animals that develop into adults have a distended body shape and/or epidermal blistering (PubMed:15454573). Abnormal cuticular and hypodermal morphology including splits in the cortical layer of the cuticle, abnormal gaps between the hypodermis and musculature and inconsistent thickness of the hypodermis (PubMed:15454573, PubMed:25480962). Impaired hypodermal membrane integrity and reduced fibrous organelles (PubMed:15454573)
Fails to produce aflavarin (PubMed:26209694)
Mice are unresponsive to PDGF-AA through PDGF-alpha receptor
Pale-green phenotype with low survival rates during de-etiolation and severe embryonic lethality when homozygous. Chli1 and chli2 double mutants are albino
Attenuated parasites that cannot commit to infection, even when they encounter with hepatocytes, resulting in continuous traversal of hepatocytes. Cells lacking both PBS36 and P52/PBS36P are severely affected in their capability to develop into liver stage parasites and abort development soon after invasion; possibly due to the absence of a parasitophorous vacuole membrane (PVM)
Plants silenced for all codeinone reductase proteins accumulate the precursor alkaloid (S)-reticuline at the expense of morphine, codeine, oripavine and thebaine
RNAi-mediated knockdown leads to lethality before eclosion (PubMed:29739804). RNAi-mediated knockdown in neurons leads to neurodegeneration in the central nervous system including degeneration of retina, defects in the fenestrated basement membrane and ommatidial disarray (PubMed:29739804). Effects are probably due to altered levels of very-long chain fatty acids (VLCFAs) (PubMed:29739804). In contrast, glial-specific RNAi-mediated knockdown results in no defect (PubMed:29739804)
Mutant shows decreased levels of InvG/SctC (PubMed:9786184). Deletion of the gene reduces the invasion efficiency of the bacterium to 70-80% as compared to wild-type in vitro (PubMed:23159244). SctG/invH-ssaV double mutant shows reduced secretion of Sip effector proteins (SipA, SipB, SipC and SipD) (PubMed:23159244)
Heterozygous females for Abcb7 with a maternally inherited mutant allele die embryonically, due to a defect in the extra-embryonic visceral endoderm, while heterozygous females with a paternally inherited mutant allele are viable (PubMed:16467350). The systemic and tissue-specific deletion of ABCB7 in most organs, including CNS and bone marrow, is lethal (PubMed:16467350). Conditionnal knockout in hepatocyte causes periportal hepatocellular iron deposition with characteristic round structures and leads to iron-dependent regulation of IRP1 protein (PubMed:16467350, PubMed:16424901)
Abolishes the production of arthripenoids but leads to the accumulation of a new compound that possesses a sesquiterpenoid chain with adiol group at C12' and C13' position
Defects in light-dependent anthocyanin and chlorophyll accumulation, as well as defects in the light control expression of light-inducible genes involved in anthocyanin biosynthesis and photosynthesis
Death between 9.5 and 10.5 days in embryonic development. Embryos display severe defects in placental vascularization. The embryonic vasculature forms normally but few vessels are seen entering the placenta and those that do enter fail to thrive and branch normally
Increased number or trichomes and reduced number of root hairs
Leads to the accumulation of isocyclochlorotine
RNAi-mediated knockdown results in increased S-adenosyl-homocysteine levels and reduced lifespan
Increased Hsp90b1 surface expression, dendritic cell hyperactivation and development of lupus-like autoimmune phenotypes (PubMed:17525271). Retarded growth after birth, reduced food intake, reduced plasma levels of glucose, free fatty acid, glucagon and insulin, increased glycogen content in the liver, and rapid decrease in blood glucose concentration upon fasting (PubMed:17001013)
No visible phenotype; probably due to redundancy with other family members
RNAi-mediated knockdown results in embryonic lethality in 10% of animals (PubMed:28696027). Surviving animals have a reduced brood size and abnormal diakinetic oocyte morphology (PubMed:28696027)
Embryo defective. Developmental arrest of the embryo at the globular stage
Reduces ethyl acetate production by at least 80%
No visible phenotype, probably due to the redundancy with PRP40B and PRP40C
Increased susceptibility to the oomycetes Phytophthora brassicae and Phytophthora capsici and to the bacteria Pseudomonas syringae, characterized by stronger necrotic symptoms and higher bacterial proliferation
Mice exhibit deficiency in adrenal cholesterol ester storage and steroidogenesis
Embryos gastrulate and neurulate, but at the tailbud stage show stunted growth and loss of cells at the blastopore. Embryos continue to develop but display shortened axes and abnormal gut and heart development by the swimming tadpole stage
Seedling lethal. Increased expression of not only protein-coding transcripts but also many mRNA-like nonprotein-coding RNAs (mlncRNAs), including natural antisense transcript RNAs (nat-RNAs). Dwarf with curly leaves and late flowering. Photoperiod-dependent altered development and stress responses; in long days (16 hours light), altered organ morphologies (e.g. narrow and epinastic leaves with wide petiole, small rosette size, long seeds, some abnormal flowers and stunted stem growth), disturbed homeostasis of wounding-induced jasmonic acid and pathogen-elicited salicylic acid. Increased resistance to Pseudomonas syringae pv. tomato strain DC3000
Mice display severe emphysematous enlargement of the distal respiratory sacs at birth. Club cells display enlargement and disorganization of the Golgi complex and formation of aberrant vesicular structures
Mice display no visible phenotype. According to PubMed:18394936, show normal development of NK cells, B and T cells but display enhanced formation of aggressive tumors. According to PubMed:19631564, exhibit developmental perturbation in size of NK cell subpopulations, increased proliferation, faster maturation and increased sensitivity to apoptosis of immature NK cells, and lower cytolytic response to KLRK1-sensitive tumor targets
Displays resistance to potyvirus (C1YVV) infection
RNAi-mediated knockdown results in male tail morphology defects
Impairs the production of depudecin and accumulates an epoxide-containing metabolite of slightly higher retention factor than native depudecin (PubMed:19737099)
Shorter roots, smaller plants and delayed flowering
Embryonic lethal due to defects in the dorsal closure and germ-band retraction; these defects include undifferentiated or defective larval cuticles presenting dorsal holes and wrinkles, defective attachment of the amnioserosa to the tail end of the germ band, defective elongation of the lateral ectoderm with compromised interface between the LE cells and the amnioserosa (PubMed:20379222, PubMed:20530545, PubMed:15342518). RNAi-mediated knockdown results in pupal lethality and scarring (PubMed:25737837). RNAi-mediated knockdown in the epidermis results in loss of wing veins and thorax mechanosensory bristles as well as male terminalia malformations including genitalia rotation defects and partial dissociation of the genital plate from the abdomen (PubMed:20530545). RNAi-mediated knockdown in the dorsal compartment of the wing disk results in loss of bristles from the medio-lateral region of the thorax and in the appearance of a mild thoracic cleft (PubMed:25737837). RNAi-mediated knockdown in the notum area of the wing disk, destined to form the dorsal medio-lateral region of the adult thorax as well as thoracic bristles, results in a thoracic cleft and loss of bristles from the medio-lateral region of the thorax (PubMed:25737837)
Male mice exhibit severe defects in spermatogenesis, leading to infertility and varying degrees of hydrocephalus. The epididymal ependymal cilia frequently show disorganized axonemes, reducing motility. Mutant testis shown lack of fully developed flagella in the lumen of the seminiferous tubules; the mutant spermatids elongate but do not maintain the axoneme, leading to severe destruction of the flagella. In contrast, the ultrastructures of motile cilia in the tracheal epithelia are intact. The deficient mice do not display laterality defects, polydactyly, polycystic kidney, or other notable abdominal organ abnormalities indicating that the nodal and primary cilia were unaffected
Reduced cutin accumulation due to lower cutin biosynthesis. Early flowering in long-day conditions
Mutants exhibit reduced pathogenicity in mice, C. elegans as well as Arabiposis
No visible phenotype under normal growth conditions, but mutant plants accumulate high amounts of JA-Ile and have strongly reduced levels of 12-hydroxy-JA-Ile in response to wounding
Uptake of glycine betaine and choline is completely abolished in the ousA-ousB double mutant
Disruption of the gene causes a 10-fold reduction in the efficiency of sporulation. Mutants divide asymmetrically but fail to complete engulfment of the forespore by the mother cell
Death during pupal stage, possibly due to the accumulation of DNA DSBs and the induction of apoptosis in third instar larvae
RNAi-mediated knockdown in the perineurial glia increases ethanol sedation resistance and decreases ethanol tolerance
Primary spermatocytes become mature in size but degenerate without initiating meiotic chromosome condensation in their nuclei. The mutation does not affect female fertility but leads to semi-lethality both in males and females during embryonic stages (PubMed:9003299). Homozigous mutant spermatids show a misshapen Nebenkern, which varies in size and is associated with multiple nuclei (PubMed:9819060)
Deletion of this gene does not affect the ability to synthesize glutathionylspermidine. There is no visible differences between wild-type and mutant strain growth in LB media
RNAi-mediated knockdown of all isoforms results in a severe reduction in transcription of gst-4, gst-5, gst-7 and gcs-1 mRNAs during infection by P.aeruginosa or P.faecalis (PubMed:22216003). Susceptibility to P.aeruginosa and P.faecalis is characterized by a decrease in survival rate (PubMed:22216003)
Viable, but there is failed activation of the expression of the proteasomal subunit rpt-3 in all tissues (PubMed:27528192). Treatment with the proteasome inhibitor bortezomib or knockout with rpn-10 RNAi results in larval lethality (PubMed:27528192). Double knockout with pbs-5 results in failed expression the proteasomal subunit rpt-3 (PubMed:27528192). Also causes a loss of transcription of riok-1 mRNA in intestine (PubMed:25688864). Reduces life span (PubMed:20624915). Moderate increase in transcription of ins-39 mRNA (PubMed:20624915). Moderate increase in CEP neuron death in response to high Al(3+) levels (PubMed:23106139). RNAi-mediated knockdown causes an increase in Mn(2+)-mediated dopaminergic CEP neuron degeneration and a reduction in expression levels of glutathione S-transferase gst-1 (PubMed:23721876)
RNAi-mediated knockdown decreases gst-4 mRNA expression in a brap-2 mutant background
RNAi lines display chilling sensitivity. Massive necrotic response to virulent Pseudomonas syringae pv. tomato infection, but normal bacterial proliferation
Mice are viable and fertile. However, oxidative DNA damages appear in the testis, associated with a reduced expression of genes encoding enzymes with oxidoreductase activity
Slow growing rate associated with pale-green and downwardly curled narrow leaves and reduced root growth that results from a decreased cell division rate and a reduced apical dominance. Defect in tRNA wobble uridine modification. Filamentous leaves with abaxialized epidermis in AS2 defective plants
Mice display marked abnormalities of synapses and neurons in the CA1 subfield of the hippocampus with enlarged and elongated pyramidal cell soma and reduced asymmetrical synapse numbers. Mutants also display impaired spatial memory acquisition, increased hippocampal susceptibility to hyperexcitability in response to repetitive afferent stimulation and prolonged recovery of UV-irradiated skin. Following spinal cord injury, mutants display reduced demyelination, oligodendrocyte death and axonal degeneration, and inproved hind limb recovery, suggesting that attenuation of neuropsin activity may be beneficial in the treatment of spinal cord injury. Blocking of Klk8 activity by intraventricular injection with monoclonal antibodies reduces or eliminates epileptic seizures in kindled mice
Inactivation of rifF gives a rifamycin B non-producing mutant that still accumulates a series of linear polyketides ranging from the tetra- to a decaketide, also detected in the wild-type
Knockout mice on a C57BL/6 background experience pre-puberal death, usually before postnatal day 12, and exhibit signs of growth retardation and hydrocephaly. Mutant mice on C57BL/6 x ICR background can survive to adulthood, are infertile, and have reduced sperm counts with short or absent flagella
RNAi-mediated knockdown results in severely reduced microtubule growth rate
RNAi-mediated knockdown attenuates the mitochondrial unfolded protein response as indicated by reduced expression of hsp-6
Disruption results in a growth defect in macrophage and mouse infections
Male-sterile phenotype due to the absence of tapetum. Presence of extra microsporocytes in the developing anthers (PubMed:14615601). No effect on cell wall degradation during microsporocyte formation (PubMed:23893118)
Plants have an embryo development blocked at the early globular stage
Deletion mutant is highly and selectively resistant to the amidino-urea compound 1-[(2,6-diethylphenyl)-3-N-ethylcarbamimodoyl]urea (compound 8918)
RNAi-mediated knockdown causes developmental delay (PubMed:22240119). Larvae have shorter body length (PubMed:22240119). Larvae exhibit homocysteine and cystathionine levels about 10x and 1.6x higher than normal, respectively (PubMed:22240119). Knockdown at day 1 of adulthood decreases longevity at 15 or 10 degrees Celsius, but not at 25 degrees Celsius (PubMed:31485561). Decreases production of hydrogen sulfide (H2S) at 15 degrees Celsius (PubMed:31485561)
Mice are viable and grow to adulthood without apparent defects except that they are smaller than wild-type mice at 8 weeks of age (PubMed:22342750, PubMed:25768905). Males mice however show significantly reduced sperm counts and fertility: testicular hypoplasia is observed (PubMed:22342750). Heterozygous knockout mice manifest neurological dysfunction, hyperactivity, and progressive cerebellar signs including gross and fine motor incoordination (PubMed:25768905, PubMed:29474920). They show spontaneous seizures, abnormal EEG activity with generalized epileptiform spikes by the age of 16 weeks, and have smaller than normal cerebella (PubMed:29474920)
RNAi-mediated knockdown prevents age-related decline in the expression of bas-1, a serotonin (5-HT) and dopamine synthesizing enzyme (DOPA decarboxylase) (PubMed:32103178). RNAi-mediated knockdown improves behavioral performance in pharyngeal pumping in aged worms (PubMed:32103178)
Disruption blocks the export of seven endogenous Tat substrates
No visible phenotype. Mutant animals are viable. Both male and female are fertile and do not exhibit any obvious malformations or behavioral abnormalities. CD8+ T-cell mitochondria are hyperpolarized, compared to their wild-type counterparts. In fasted mutant animals, livers do not exhibit any signs of steatosis, but accumulate glycogen, possibly due to a sustained mitochondrial oxidation that leads to rapid metabolism of lipids, hence minimizing their accumulation in the liver and favoring glycogenesis. During fasting, loss of white fat is also more prominent than in wild type animals
Morpholino knockdown results in a weakly abnormal brain patterning during development that does not affect embryo viability at 5 days post-fertilization
Loss of cp-tRNA editing, decreased chloroplast translation and impaired photosynthesis
No visible phenotype under normal growth conditions (PubMed:20367464, PubMed:23451802). Mutant plants show increased resistance to the bacterial pathogen P.syringae and enhanced susceptibility to the fungal pathogen to B.cinerea (PubMed:20367464). Mutant plants display increased sensitivity to salt stress (PubMed:23451802)
Mutants can still form pedestals
Blocks Fam19a5-stimulated macrophage chemotaxis and phosphorylation of Erk1 and Akt1 (PubMed:29138422). Suppression of Fam19a5-mediated inhibition of Rankl-induced osteoclast differentiation (PubMed:29138422)
Strong reduction of root hair length
Worms exhibit ectopic rays and lack alae in V cells of the male tail. Mutants appear scrawny, often herniated, uncoordinated, show defects in dorsal and ventral cord fasciculation, commissure guidance defects, and over activated Wnt signaling pathway. Phenotypes are more penetrant in the pry-1 and axl-1 double mutant, suggesting some functional overlaps
Reduced pharynx pumping rate and abnormal isthmus peristalses in L1 stage larvae (PubMed:18161854). Feeding defects, characterized by a stuffed pharynx, as a result of ingested E.coli packing the lumen of the corpus and anterior isthmus in L4 stage larvae (PubMed:18161854). Defects in pharyngeal g1 gland cell morphology (PubMed:24690231). Reduced expression of TGF-beta, dbl-1, in the cholinergic motor neuron M4, but normal expression of other markers of differentiation, such as serotonin receptor ser-7b and the vesicular acetylcholine transporter unc-17 (PubMed:18161854)
Deletion mutant no longer contains any hopanoids in the outer membrane, and contains elevated concentrations of hopanoids in the cytoplasmic and inner cytoplasmic membrane fractions (PubMed:21873238). Total hopanoid abundance is unchanged (PubMed:21873238). Deletion mutant grows like the wild-type strain and forms single cells when grown at 30 degrees Celsius, but grows slower and shows a filamentation phenotype at 38 degrees Celsius, suggesting that cell division is affected (PubMed:21873238)
Normal vegetative growth but severe reduction in fertility due to a decrease in chiasma frequency at metaphase I of meiosis
Impaired fusion of polar nuclei
Partial muscle-specific knockout mice display several signs of muscular dystrophy including necrosis and an increased number of centrally nucleated myofibers. RNAi-mediated knockdown in C2C12 muscle cells causes reduced myogenic differentiation of the cells
Hypersensitivity toward the antibiotics virginiamycin M and lincomycin, mildly increased sensitivity to erythromycin, clindamycin and oleandomycin (PubMed:16109936). Hypersensitivity toward the antibiotics virginiamycin M, lincomycin and tiamulin, in this study has no effect on sensitivity to erythromycin, chloramphenicol or linezolid (PubMed:30126986)
Increased cell elongation and longer hypocotyls when grown in the dark. Longer primary roots when grown in light due to increased cell production in root meristem. Loss of stratification requirement for seed germination. Decreased sensitivity to glucose and abscisic acid (ABA) in seed germination process (PubMed:26528314). No effect on ABA inhibition of stomatal opening
Suppresses motor neuron dorsal guidance defects in an unc-6 mutant background (PubMed:18434533). Mild shorter and stouter phenotype (PubMed:18434533)
RNAi-mediated knockdown prevents neuronal degeneration in a mec-4(u231), deg-1(u38) or gsa-1(Q227L) gain-of-function mutant background
Abolishes CHS3 localization to the bud neck with increased protein localization to the ER membrane
Morpholino knockdown of the protein causes a shortening of the hair cell kinocilia in a larvae at 3 dpf. There are no other gross morphological defects in the inner ear
Knockout is viable, without apparent morphological defects, but, in an adnpb mutant background, some embryos have axis formation defects and at 36-48 hours post-fertilization (hpf), have abnormal body morphology with significant brain neuron death (PubMed:32533114). Expression of neural genes such as dlx5a, neurod1, and phox2a is greatly reduced in day 2 embryos in an adnpb mutant background (PubMed:23071114). Beta-catenin ctnnb1 levels reduced in an adnpb mutant background (PubMed:32533114). Morpholino knockdown reduces numbers of blood cells in circulation from 28 hours hpf (PubMed:23071114). Significant reduction in hemoglobin content at 48 and 72 hpf (PubMed:23071114). Developmental delay, distorted tail morphology, and much smaller head and eyes (PubMed:23071114). Some embryos recovered blood circulation at day 4 after knockdown, whereas others became severely edematous at day 4-5 and died by about 7 days (PubMed:23071114)
In a 129S5/SvEvBrd genetic background, males show progressive reduction in fertility with almost complete loss of fertility after 5 months of breeding. Testis weight and histology appear normal. Spermatozoa have significantly reduced forward motility. The sperm flagellum shows defective bending in the midpiece region which impairs waveform propagation and forward propulsion. Sperm ATP levels deplete significantly over time, probably as a result of excess energy consumption from inefficient flagellar beating. The ultrastructure of the flagellum has some subtle abnormalities with an enlarged space between the mitochondrial sheath and the outer dense fibers. In a mixed C57BL/6J;129S5/SvEvBrd genetic background, male fertility is not significantly affected
Delay in development and flowering. Deficiency in lateral root formation
Worms exhibit increased resistance to aldicarb indicative of an affect on neurotransmission but equal sensitivity to levamisole which specifically inhibits the postsynapse. Mutants also show mislocalized rab-3 and snb-1 proteins
Mice exhibit delayed onset and markedly reduced incidence of chemically induced skin squamous tumors. They also display cardiac malformations which mainly affects aortic and pulmonary valves and enhanced susceptibility to cardiac hypertrophy and fibrosis in response to chronic stress
Survival of touch neurons and several pharyngeal cells is not affected during development. In a ced-3 n2427 or ced-3 n2427 and cps-3 n4872 mutant background, no extra pharyngeal cells caused by impaired apoptosis are produced. In a csp-3 n4872, csp-1 n4967 and ced-3 n3692 mutant background, pharyngeal cells, that are normally fated to die, survive and 16 percent of animals have still 1 or more cell corpses that are morphologically apoptotic and are internalized by engulfing cells. In addition, apoptosis of the male linker cell occurs normally
Accumulation of Cys-Gly dipeptide and enhanced GSH toxicity
Hypersensitive to the alkylating agent methyl methanesulfonate (MMS) and the cross-linking agent cisplatin
RNAi-mediated knockdown results in embryonic lethality (PubMed:16950114). Impairs assembly of the nuclear pore complex, the integrity of the nuclear envelope and distribution of the integral nuclear envelope proteins lmn-1, lem-2 and emr-1 and the nuclear pore complex proteins npp-9, npp-10 and npp-1 (PubMed:16950114, PubMed:16950115). Reduces the recruitment of npp-10 and npp-5 to chromatin (PubMed:16950114). Leads to hypercondensation and mispositioning of chromatin, defects in migration and positioning of the pronuclei, dissociation of centrosomes from chromatin, precocious centrosome separation, as well as defects in kinetochore assembly, spindle assembly, chromosome segregation and chromatin distribution in meiosis and mitosis (PubMed:16950114, PubMed:16950115). Impairs mitotic progression and leads to chromatin bridges (PubMed:16950114, PubMed:16950115). Reduces knl-3 localization to the kinetochores (PubMed:16950115). Suppresses the chromosome-decondensation defect in evl-18/cdc-45 mutant embryos (PubMed:26166571)
Disrupting the ure1 operon causes loss of urease activity
Increased accumulation of hydroxyceramides. Enhanced sensitivity to oxidative stress induced by methyl viologen. Increased sensitivity to C2-ceramide induced cell death
Cells lacking TcrX and TcrY show an increase in virulence in mouse model of infection, with significantly shorter survival times
No visible phenotype, due to the redundancy with the other TPR proteins
leads to reduced flocculation stimulated by 3-aminotriazole-induced amino acid starvation
Cells lacking this gene produce semirough (SR-type) LPS with only one O unit attached to the core-lipid A moiety while the wild-type strain produces normal LPS
Arrest of larva growing and development (PubMed:31234914). Abnormal formation of the endocuticle (PubMed:31234914)
No visible phenotype in adults. No significant effect is seen on liver phospholipid metabolism, neural development, or testicular function. No abnormalities are detected in embryonic and adult testis morphology, differentiation, function, or fertility. PubMed:16861741 shows maternal-specific failure to support late embryonic development, resulting in reduced perinatal size and survival and suggesting compromised placental function
No visible phenotype under normal growth conditions, but the double mutant plants myb48 and myb83 nearly lack secondary wall thickening, stop growing after developing one to two pairs of small leaves and subsequently die
Deletion causes manganese sensitivity and leads to increased intracellular manganese levels
Decreased production of dimethyl sulfide (DMS)
No visible phenotype at 22 degrees Celsius. Increased heat-loss and failure to maintain body temperature at 4 degrees Celsius when the shivering response is prevented. Mice show increased weight gain and obesity when kept on a high-fat diet. Mice display faster muscle relaxation rates in soleus due to an increase in the affinity of ATP2A1 for Ca(2+)
Leads to hypersensitivity to arsenic (PubMed:9234670). Impairs the arsenic-dependent induction of arsenate reductase ARR2, arsenite transporter ARR3 and vacuolar transporter YCF1 (PubMed:11527213, PubMed:15147884)
Retains 79% 2-isopropylmalate synthase activity and grows in the absence of Leu; a double LEU1-LEU9 deletion has no 2-isopropylmalate synthase, does not grow in the absence of Leu
Disruption of the gene abolishes growth on lactose and severely impairs growth on cellobiose
Newborn mice display mild skeletal abnormalities (PubMed:11702786). Knockout mice also display increase in prematurely differentiated oligodendrocyte precursor cells in the motor neuron progenitor domain of the spinal tube at 11.5 dpc (PubMed:26525805). At 18.5 dpc the number and distribution of oligodendroglia are normal, however there is an increased number of differentiating oligodendrocytes (PubMed:26525805). Double knockout of Sox13 and Sox6 show an increase in oligodendrocyte precursor cells in the spinal tube at 11.5 dpc, at 18.5 dpc the number and distribution of oligodendroglia are normal but contain an increased number of differentiating cells (PubMed:26525805). Mice lacking both Sox5 and Sox6 develop a severe chondrodysplasia characterized by the virtual absence of cartilage: chondrogenic cells are largely arrested at the stage of chondrogenic mesenchymal condensations (PubMed:11702786). Embryos lacking Sox5 (homozygous knockout) and heterozygous for Sox6 live until birth and show severe growth plate chondrocyte defects (PubMed:14993235). Embryos lacking Sox6 (homozygous knockout) and heterozygous for Sox5 live until birth and show severe growth plate chondrocyte defects (PubMed:14993235)
Cells lacking SpeB display a strongly decreased virulence
RNAi-mediated knockdown results in defective endocytosis by oocytes characterized by an accumulation of aggregated yolk protein in the pseudocoelomatic space
Morpholino knockdown leads to both intermediate and severe phenotypes of abnormal embryonic development (PubMed:21227923, PubMed:19414594). Intermediate phenotypes show developmental delay, including aberrant formation of the head, tail, eye placodes and somites (PubMed:21227923, PubMed:19414594). Severe phenotypes show severe developmental arrest, including yolk extension defects, and lack of recognizable morphological development (PubMed:21227923, PubMed:19414594). High mortality rates of 80% to 85% at 5 days post-fertilization (PubMed:19414594). Increase in premature stop codon containing slc24a5 mRNA transcript levels in melanocytes (PubMed:21227923, PubMed:19414594)
Leads to the accumulation of fructose-1-phosphate (PubMed:27322068). Leads to increased DNA damage or decreased repair (PubMed:18085829)
Conditional deletion in T-cells does not affect the development, peripheral homeostasis and population of memory T-cells, but leads to faster tumor progression (PubMed:30487606). Faster tumor progression is caused by higher levels of Pdcd1/PD-1 in tumor-infiltrating T-cells (PubMed:30487606)
Dwarf and weak seedling that dies during vegetative phase
Lethality within 24 hours after birth (PubMed:28912269). Mice display defective palatogenesis without apparent abnormalities in other major organs (PubMed:28912269)
Defective embryo arrested at preglobular/early globular stage. Suspensor overproliferation phenotype preceded by ectopic auxin maxima distribution. Reduced efficacy of cohesin immobilization in nuclei
Enhanced sensitivity to genotoxic stresses (e.g. bleomycin and mitomycin C (MMC)) due to reduced intrachromosomal homologous recombination (HR) (PubMed:16957774). Meristem defects associated with ectopic WUSCHEL expression at high levels (e.g. 238 fold higher than controls) mainly in the outermost cell layers instead of the organizing center (PubMed:18591352). Abnormal quiescent center (QC) in the root apical meristem (RAM) and defects in cell differentiation leading to short roots and loss of gravitropic response, probably due to defect in columella cell differentiation. Ectopic expression of WOX5 in RAM cells that normally express ROW1 (PubMed:25631790)
No visible phenotype; due to redundancy with HERK1. Herk1 and the1 double mutants are stunted. In the1-4, shorter hypocotyls without brassinolide (BL) treatment. In the1-3, partially restored hypocotyl growth defect of prc1-8 and of other cellulose-deficient mutants
No visible phenotype under normal growth conditions, but the lng1 and lng2 double mutant shows reduced length of cotyledons, rosette leaves, siliques and flowers
Insertional mutagenesis results in the loss of respiratory nitrite reductase activity in vivo and in vitro. Mutant strains synthesize a periplasmic cytochrome cd1 that lacks heme d1
Significantly decreased growth on vanillin, 3-hydroxybenzaldehyde, 4-hydroxybenzaldehyde, 3,4-dihydroxybenzaldehyde, ferulic acid and caffeic acid as the sole carbon and energy source
Results in the complete abolition of pyrichalasin H and deacetylated pyrichalasin H production
Gypa is not incorporated in the erythrocyte membrane
Deletion of this gene from the locus expressed in B.thailandensis abrogates growth inhibition
Impaired replication in host erythrocytes (PubMed:20466936). Parasite development is arrested at the late schizont stage before the rupture of the parasitophorous vacuole membrane rupture, however, the daughter merozoites are fully mature and their number per schizont is not affected (PubMed:20466936, PubMed:29487234). Loss of secretion of AMA1-containing and EBA175-containing micronemes (PubMed:29487234). SUB1-mediated processing of AMA1 and SERA5, which is part of the protease cascade involved in parasite egress, is reduced (PubMed:29487234). At the late schizont stage, phosphorylation of several transmembrane- and membrane-associated proteins and proteins associated with transport activity is reduced (PubMed:31915223)
Impairs the production of siderophores and leads to slow growth under low iron conditions (PubMed:20507510). Does not affect the ability to infect single, inoculated spikelets, but prevents the spreading from spikelet-to-spikelet through the rachises of wheat spikes (PubMed:20507510)
Results are contradictory; one study (PubMed:15780988) finds no visible phenotype; mice are born at the expected Mendelian ratio and are fertile, but they present defects in T-cell differentiation and in T-cell responses to antigens. According to another publication (PubMed:15277503) gene disruption leads to degeneration of photoreceptor cells in the retina within the first month of life
Disruption of adeR causes a sporulation defect
Deletion of the gene abrogates export of intact petrobactin, which accumulates inside the cell. However, growth of the mutants in iron-depleted medium is not affected, and virulence in mice is not attenuated
Cells lacking this gene and cells lacking both pdxY and pdxK are not auxotrophs, meaning that the de novo pathway of PLP biosynthesis is functional. For PLP salvage, the pdxY single mutant can use both pyridoxine and pyridoxal, the pdxK single mutant can use pyridoxal but not pyridoxine, and the double mutant can no longer use both compounds
No visible phenotype under normal growth condition, but compromised pathogen-induced glycerol-3-phosphate-(G3P) and azelaic acid- (AA) dependent systemic acquired resistance (SAR)
Cells lacking this gene accumulate coproporphyrinogen-III under anaerobic conditions, but show normal growth under aerobic and anaerobic conditions
Flies show aberrant synaptic transmission in photoreceptors despite normal phototransduction. Synaptic terminals and axons lack mitochondria, although mitochondria are numerous in neuronal cell bodies. Synaptic vesicles continue to be transported to and concentrated at synapses. In mutant oocytes mitochondria are transported prematurely and excessively
Cells lacking this gene catabolize vanillate and syringate with an accumulation of the enol form of oxalomesaconate (OMA), 2-pyrone-4,6-dicarboxylate (PDC), and a product that is likely to be KCH
Mutant cannot release methanethiol upon 5'-methylthioadenosine (MTA) feeding (PubMed:23042035). Deletion mutant accumulates both S-methyl-5'-thioadenosine and 5'-deoxyadenosine extracellularly (PubMed:31950558)
Simultaneous disruption of nucleoporin alm1 results in a growth defect
Cells lacking this gene have no O-acetylated N-acetyl muramic acid residues on the cell wall. Sensitive to bacterial cell wall targeting antimicrobial molecules lysozyme, beta-lactam antibiotic cefotaxime and Staphylococcus gallinarum lantibiotic gallidermin. Impaired postinfection intracellular survival of bacteria inside human acute monocytic leukemia (THP-1) cells. Killed more efficiently and rapidly in mouse postinfection peritoneal-elicited macrophages (PEM) and bone marrow-derived macrophages (BMDM). Impaired ability of the bacteria to multiply in infected murine macrophage-like (RAW264.7) cells. Bacteria do not accumulate in vacuoles of the infected RAW264.7 cells, but reside in the cytosol and the infected cells are not forming protrusions. Virulence is drastically reduced in mice following intravenous infection as observed by the dramatic difference in LD(50) of the mutant (1100000 bacteria) compared to wild-type (700 bacteria). With sublethal infectious doses, has a reduced capacity to replicate in liver and spleen compared to wild-type. In the intestinal lumen of intragastrically infected human E-cadherin transgenic mice, which are permissive to Listeria oral infection, the number of bacteria is strongly decreased 24 hours postinfection. There are also significantly fewer bacteria in the small intestine tissue compared to wild-type. Triggers increased secretion of cytokines interleukin 2 (IL-2), IL-6, IL-12 and IL-5, and chemokines CCL2, CXCL9 and CCL3 from the liver cells of the infected mouse at 6 hours postinfection. At later time points of infection, the production of the inflammatory mediators is increased in case of IL-6, similar in case of IL-2, CXCL9 and IL-5, and lower in case of IL-12, CCL2 and CCL3 compared to the wild-type. The virulence of a double oatA/pgdA deletion mutant is more reduced than that of either single mutant as detected by lack of colonization in the bloodstream, liver and spleen of infected mouse 24 hours postinfection
Knockdown in bone marrow monocytes protect mice from bone resorption in periodontal disease model
Mutant mice show increased pentylenetetrazole-induced seizure susceptibility and mortality associated with a reduction of myo-inositol concentration in cerebrospinal fluid
Leads to a yellow-green color of conidia (PubMed:11350964, PubMed:26972005). Impairs the accumulation of 1,3,6,8-tetrahydroxynaphthalene (1,3,6,8-THN) (PubMed:11350964). Results in an altered conidial surface with masked surface rodlet layer, leaky cell wall allowing the deposition of proteins on the cell surface and exposing the otherwise-masked cell wall polysaccharides at the surface (PubMed:24818666). Decreases the protection against the host's immune defenses (PubMed:21501368). Causes enhanced insect mortality compared to the parent strain in a wax moth Galleria mellonella infection model, probably through exacerbated immune response of the wax moth (PubMed:19156203)
Slightly reduced efficiency of intracellular multiplication of tobamoviruses (e.g. crucifer strain TMV-Cg), characterized by a reduced amplification of TMV-related RNAs
Mutants are partially insensitive to body touch
Beginning in the L2 stage, onward, animals display striking and progressive defects in morphology of the epidermis. Worms show molting defect and exhibit a trail of old cuticle that remains attached to the posterior part of the body. Longitudinal ridges termed alae, which are cuticular structures secreted by lateral hypodermal seam cells, are poorly distinct or interrupted. Sensory rays in males are malformed. Developed a fairly normal gonad but have a strongly reduced fertility. Show uncoordinated movement and an enlarged gut lumen. Died as a 'bag of worms', or alternatively, as a result of a burst vulva
Susceptibility to powdery mildew pathogen E.cichoracearum
Premature down-regulation of proliferation of cerebellar granule neuron precursors in postnatal mice, precocious maturation of Bergmann glia and Purkinje neurons, precocious juvenile motor abilities, and improved adult motor learning and coordination (PubMed:24062445). Early activation of the Shh pathway with increased levels of Shh, Smo and Ptch1 earlier in postnatal development than in wild-type mice (PubMed:24062445). Increased aortic diastolic, mean arterial and pulse pressures in females but not in males (PubMed:29625592). Males develop exacerbated left ventricular hypertrophy and evidence of heart failure when challenged with short-term angiotensin-2 infusion while females are protected from cardiac fibrosis (PubMed:29625592). Increased susceptibility to induced seizures (PubMed:28688853). Reduced signaling in the cerebellum as indicated by significantly less cAMP production (PubMed:27072655). No effect on the input resistance or resting potential of astrocytes or neurons (PubMed:28795439). Neuronal death is increased by 40% in an in vitro model of ischemia (PubMed:28795439)
Shorter 3' nucleotide extensions of mitochondrial mRNAs and reduced accumulation of several chloroplast rRNA species. Germinates only on sucrose-containing media, with white cotyledons and pale green rosette leaves
Shows a moderate phenotype with increased basal cGMP levels, but only a small effect on cAMP-stimulated cGMP levels
RNAi-mediated knockdown results in temperature-sensitive embryonic lethality
Reduced uptake of Fe(2+)
Male sterility probably due to impaired pollen germination
Worms exhibit uncoordinated and slow movement
IpdAB double deletion mutant does not grow on cholesterol or HIP, but grows as the wild-type on pyruvate. In the presence of cholesterol, ipdAB double deletion mutant accumulates COCHEA-CoA
Deficient mice show significant resistance to depression after repeated stress in the social defeat test. Additionally, hippocampal cell proliferation in deficient mice is increased
Suppression of filamentatous growth, defects in cell polarity, and cellular elongation, due to defects in N-glycosylation
RNAi-mediated knockdown reduces expression of homeobox protein lin-39 in vulval precursor cells at the larval L3 stage
High-chlorophyll-fluorescence phenotype. Short roots
RNAi-mediated knockdown does not alter the ubiquitination of membranous organelles (MOs) or the number of MOs (PubMed:31153831). Double RNAi-mediated knockdown together with ubc-18 reduces the ubiquitination of MOs (PubMed:31153831). Double knockdown also reduces the number of lgg-1-positive autophagosome vesicles in embryos (PubMed:31153831)
Cells lacking this gene are not able to grow in nicotine medium
Mutant shows wild-type copper resistance. Mutation does not attenuate growth in mice
The cellular level of phosphatidylethanolamine is decreased, and phosphatidylcholine levels are increased (PubMed:9294443, PubMed:24146988, PubMed:30926815). Decreases induction of mitophagy in nitrogen starvation following growth on a respiratory carbon source; recruitment of ATG8 to mitochondria is impaired (PubMed:30510114). Growth on non-fermentable carbon sources is severely decreased (lactate, ethanol and glycerol) (PubMed:24146988, PubMed:34818062, PubMed:30926815). Growth on the fermentable carbon source galactose is severely decreased (PubMed:28473294). Increases RNA level of genes involved in transport, generation of precursor metabolites and energy, carbohydrate metabolism, and stress responses (PubMed:24146988). Leads to respiratory defects; respiratory complex III and IV activity is impaired (PubMed:30926815). Simultaneous disruption of PSD2 exacerbates respiratory defects (PubMed:30926815)
Depletion results in enlarged, spherical cells
Decreased fluorescence recovery after non-photochemical quenching (NPQ)
Maternal-effect embryonic lethal resulting in dramatic spindle positioning defects in one-cell stage embryos
Larval lethality with about 9-12 percent of animals reaching adulthood. The few surviving adults are sterile. About 10 percent embryonic lethality. Reduced nuclear growth in P1 embryonic cell and delayed entry into mitosis. 39 percent reduction in him-10 kinetochore association and 34 percent reduction in air-2 chromatin association during metaphase. Loss of npp-5 localization to kinetochores during metaphase. About 10 percent of mutants have chromosome segregation defects. RNAi-mediated knockdown causes a loss of npp-23 localization to kinetochores and reduced localization to the nuclear envelope in interphase. Also results in the accumulation of spindle assembly checkpoint protein mdf-1 on kinetochores during metaphase and reduced mdf-1 localization to the nuclear envelope. Does not affect the expression levels of nuclear pore complex components npp-10, npp-19 and npp-7 or npp-10, npp-2 and mel-28 localization and appears to be dispensable for pie-1 nuclear import and for nuclear protein exclusion. Embryos transiently exposed to a hypoxic environment develop into infertile adults. Simultaneous RNAi-mediated knockdown of mdf-1 causes embryonic lethality and severe chromosome segregation defects
No visible phenotype in normal conditions (PubMed:32277911). Impaired response to herpes simplex virus 1 (HSV-1) infection, caused by decreased ability to transport 2'-3'-cGAMP (PubMed:32277911)
Deletion of the entire CRISPR-Cas locus (cas6 to cas2, Rv2824c to Rv2816c) decreases resistance to plasmids encoding spacer elements about 6-fold
Decreased oil content and modified size and shape of oil bodies
Knockout embryos are not able to form viable blastocysts. Transgenic mice lacking the expression of Nop53 in the thymus display a dramatic reduction of the number of thymic cells and of the size of the thymus
Both ncr-1 single mutant and ncr-1 and ncr-2 double mutants exhibit slow embryonic and larval development, and hyperactive egg-laying behavior (egg-laying constitutive (egl-c) phenotype). Ncr-1 and ncr-2 double mutants inappropriately and transiently form dauer larvae under favorable conditions (dauer-constitutive (daf-c) phenotype)
Normal induced systemic resistance (ISR) mediated by P.fluorescens WCS417r toward the pathogenic bacteria P.syringae pv. tomato DC3000
Impaired responses to phytohormones such as indole-3-butyric acid, indole-3-acetic acid (auxin), synthetic auxins, auxin transport inhibitors, and abscisic acid (ABA). Plants exhibit long roots and short hypocotyls when grown in the light, with aberrant vascular patterning, increased leaf serration, and reduced accumulation of auxin-inducible genes
Increase in adult life span. Increased levels of daf-16 translocate into the nucleus in response to heat stress. Hypersensitive to killing by bacteria
Defects in PLM neuron synaptic differentiation characterized by a misalignment of active zones and synaptic vesicles, branch point anterior to the vulva and overextension of synaptic branch. DD motoneurons display similar pre-synaptic defects. Increased expression of prk-2. In addition, mutants display a moderate uncoordinated movement, a small decrease in body size, a defect in egg laying and a slower growth
Mice are viable and fertile, with a profound reduction in body size at birth and throughout postnatal life due to a reduction in the number of cells rather than cell size. Deficient mice have also an increased glucose tolerance
Reduces the production of sclerotia (PubMed:27647242)
Leads to a severe decrease in ergosterol production and virulence when ERG3B is also deleted (PubMed:23442154). Results in increased production of deoxynivalenol (DON) (PubMed:24785759)
Mutant worms have decreased body size, high fat stores, increased uptake of fatty acids, reduced brood size, retarded postembryonic growth, extended reproductive life span and increased resistance to stress. RNAi-mediated knockdown of the protein results in impaired synthesis of long-chain and polyunsaturated fatty acids. Pharyngeal pumping rate is similar to wild type but simultaneous knockdown with nhx-2 results in reduced rate of pharyngeal pumping and slightly higher acidic intestinal pH
Deletion results in a decrease of anguibactin production and in a moderate attenuation of virulence
Adults are severely uncoordinated and exhibit disorganized spermatid cysts with dispersed nuclei, likely as a consequence of the severe defects in axonemal elongation (PubMed:31821146). RNAi-mediated knockdown in developing sensory neurons results in defective microtubule (MT)-microtubule (MT) and microtubule-membrane connections (Y linkers) ultimately affecting cilia formation leading to olfactory and gravitaxis behavioral defects (PubMed:30013109). RNAi-mediated knockdown in spermatocytes results in defective transition zone assembly including increased distance between microtubules (MT) and MT-membrane causing defective cilia (PubMed:30013109)
Impairs the biosynthesis of secondary metabolites, including dothistromin (PubMed:22227160). Impairs asexual sporulation but shows normal hydrophobicity (PubMed:22227160)
Developing photoreceptor cell clusters express reduced levels of rolled/MAPK and fail to differentiate normally
Completely abolishes the 11'-deoxyverticillin A production
Impaired cardiolipin (CL) metabolism with accumulation of monolysocardiolipin (MLCL) and reduction of mature CL in embryonic stem cells, male sterility, reduced testis size and disruption in progression of spermatocytes through meiosis (PubMed:26114544). Spermatocytes fail to progress past the pachytene stage of meiosis and have higher levels of DNA double strand damage and increased levels of endogenous retrotransposon activity (PubMed:26114544). RNAi-mediated knockdown results in prenatal and perinatal lethality, impaired CL metabolism resulting in absence of tetralineoyl-cardiolipin and accumulation of MLCL in cardiac and skeletal muscle, abnormal ultrastructure of mitochondria and mitochondrial-associated membranes, impaired skeletal muscle contractile properties, early diastolic dysfunction, and cardiac abnormalities such as myocardial thinning, hypertrabeculation, non-compaction, defective ventricular septation and left ventricular dilation (PubMed:21091282, PubMed:21068380, PubMed:23130124, PubMed:30389594). RNAi-mediated knockdown also results in impaired CL metabolism in the brain with reduced total CL levels and significantly increased MLCL levels, impaired brain mitochondrial respiration, elevated brain production of reactive oxygen species, significant memory deficiency, derangement of the hippocampal CA1 neuronal layer and elevated microglia activity (PubMed:30055293). Hepatic CL levels remain normal (PubMed:30055293). RNAi-mediated knockdown does not affect resting metabolic rate but markedly impairs oxygen consumption rates during exercise and diminishes mitochondrial complex III activity (PubMed:23616771)
Disruption results in significantly increased transcript levels of genes involved in nitrogen fixation or nitrogen assimilation though growing under nitrogen sufficiency. It also leads to a significant reduction of the lag-phase after a shift from nitrogen sufficiency to nitrogen limitation
Mice exhibit both EOB (eyes open at birth) and omphalocele phenotypes as a result of disorganization of actomyosin cables in the eyelid epithelium and defective actin assembly in the umbilical ring. Mice are impaired in both basal synaptic transmission and hippocampal long-term potentiation (LTP). Embryos manifest extensive thrombus formation in the placenta, resulting in placental dysfunction, intrauterine growth retardation, and fetal death
Animals show shortened circadian period and reduced total activity
Organ laterality defects due to altered ciliary motility. Typical randomized left-right mutant leading to situs inversus. Fishes lack directional liquid flow in Kupffer's vesicle (an organ functionally equivalent to the mouse node in terms of left-right specification). Although the number and length of cilia in Kupffer's vesicle seem normal, their motility is completely lost. Homozygous fish are viable but develop primary ciliary dyskinesia. Furthermore, male mutant fish have impaired sperm motility leading to reduced fertility. Ultrastructurally, affected cilia and flagella show partial or complete loss of outer and inner dynein arms. This loss of dynein arms is more severe in Kupffer's vesicle cilia than in sperm flagella
Unable to grow photoautotrophically or evolve O(2). About 10% mostly monomeric PSII accumulates, which corresponds to RC47, an intermediate in the normal path of PSII assembly. The intermediate is able to bind the primary and secondary electron donors and acceptors and can transfer electrons
SIGLEC1-deficient mice are viable, display no gross developmental abnormalities, and exhibit only subtle changes in B- and T-cell populations (PubMed:16449664). However, they are significantly more susceptible to bacterial infection than WT (PubMed:24788876). In addition, serum IgM and IgG amounts are greatly reduced in mutant mice (PubMed:16449664, PubMed:24788876)
Resulted in the down-regulation of the three biosynthetic genes from the trisetin cluster and a reduced accumulation of trichosetin (PubMed:28379186)
Male-sterile phenotype due to the absence of tapetal cells in the developing anthers
Lack of common polysaccharide antigen (CPA) biosynthesis (PubMed:9680202, PubMed:25845842). Biosynthesis of O-specific antigen (OSA), also called B band, is unaffected (PubMed:9680202). Increased susceptibility to the antibiotic colistin (PubMed:24474431)
Mutants do not express ECP and are defective in biofilm formation
Cells lacking this gene are moderately sensitive to DNA-damaging agents. Sensitivity increases in the presence of mutated AddAB nuclease
Mice display a partially-penetrant uterovaginal and tail development defects. The uterovaginal defect is due to a defect in apoptosis during development
Cells lacking this gene grow normally on glucose but are unable to grow on fructose
Embryonic lethality at the early heart stage, due to defects in endosperm development
In the yeast form, results in slower proliferation as well as increased cell size (PubMed:30552148). Does not cause an increased amount of bipolar cells and leads to significantly longer hyphae and empty sections at the basal pole (PubMed:30552148)
No vegetative phenotype. Oversensitivity to ionic stress but not to osmotic stress. Sustained roots growth upon treatment with E-2-hexenal. Increased gamma-amino butyric acid (GABA) in leaves and flowers and defects in pollen tube growth, guidance and fertility. Cell elongation defects. Suppresses partially the ENF1 disruption pleiotropic developmental phenotypes (including abaxialized and adaxialized leaves). Enlarged expressing region of FIL, thus leading to an increase in the size of leaf abaxial region associated with altered GABA and SucA levels in shoots; however, the enf1 gabat1 double mutant has a restored almost normal FIL expression pattern (PubMed:21690177)
RNAi-mediated knockdown in both the procyclic and the bloodstream form is lethal
Mice are viable and fertile and show no obvious developmental defects (PubMed:23726973). Following intestine ablation by gamma irradiation, adult mice display a reduction in the size and number of proliferating intestinal crypts and an increase in cell death (PubMed:23726973). Mice display reduced intestinal tumor progression compared to wild-type mice (PubMed:23726973). In response to ischemic myocardium injury, display an increase in the ability to stimulate myocyte mitophagy in ischemic border zones through a ROS-induced and BNIP3 activation dependent manner leading to a reduction of defective mitochondria and myocyte cell death, and hence a better recovery of cardiac function (PubMed:22044588)
Stunted growth and reduced plant height (PubMed:27864442). The double mutants tbl1 and tbl2 exhibit increased susceptibility to the bacterial pathogen Xanthomonas oryzae pv oryzae (Xoo) (PubMed:27864442)
Viable, but sterile with defective development that is prominent during the late larval stages of development. The developmental defects include a squat body stature referred to as a dumpy phenotype, irregular gut, defective gonadal growth, with incomplete gonad development in some animals, a protruding vulva phenotype, defective uterus and spermatheca formation, and excretory canal defects. RNAi-mediated knockdown results in 44% of animals arresting at either the embryonic or larval stage of development, and in a range of phenotypes including defective molting, protruding vulvae that burst, male tail ray defects and uncoordinated movement
No visible phenotype under normal growth conditions (PubMed:30026291). The double mutants noot1 and noot2 exhibit complete loss of nodule identity and develop only non-fixing root-like structures that are no longer able to host symbiotic rhizobia (PubMed:30026291)
Reduced size, egg production and brood size (PubMed:15099742). Survival in response to heat and oxidative stress induced by peroxides is comparable to wild-type (PubMed:15099742). RNAi-mediated knockdown increases lifespan in response to the heavy metal arsenite (PubMed:25808059). RNAi-mediated knockdown increases expression of gcs-1 and further increases gcs-1 expression in response to the heavy metal arsenite (PubMed:19064914). RNAi-mediated knockdown increases the expression of isoform a of skn-1 in intestinal nuclei (PubMed:25808059)
Morpholino knockdown causes microphtalmia, microcephaly, melanocyte disorganization, curved body axis, motility defects and narrow trunk. Morphants also exhibit aberrant head cartilage formation and cranial-facial dysmorphology
Some mice exhibit embryonic and postnatal lethality. Viable mice show heart disease, disturbances of laterality, neural tube defects and vertebral and rib defects
Decreases the production of trichodimerol in light and darkness (PubMed:28809958). Also impacts production of paracelsin in a light dependent manner, with increased paracelsin levels in light (PubMed:28809958). Results also in increased cbh1 transcript levels and correspondingly increased specific cellulase activity (PubMed:28809958)
Disturbed cell division patterns in lateral root primordia leading to the expansion of the proximal region of lateral roots. Short lateral roots in young seedlings (PubMed:17630277). In the shoot, formation of small pin-shaped protrusions at the base of pedicels (PubMed:17630277, PubMed:19482972)
Blocks conidia formation and increases hyphal branching (PubMed:24113825). Affects the expression of seven secondary metabolism gene clusters including those in the biosynthesis of roquefortine C and meleagrin, and up-regulates the expression levels of most cellulase genes (PubMed:24113825)
No visible phenotype under normal growth conditions, but mutant plants exhibit increased tolerance to salt stress during germination (PubMed:18299802). No visible phenotype under normal growth conditions, but mutant plants display a sugar-resistant seedling development phenotype (PubMed:24320620)
Decreases virulence in murine infection models
Impairs the synthesis of terretonin (PubMed:23116177)
Inactivation of glgC shows a strong reduction in alpha-glucan content. Combined inactivation of both glgC and treS results in a complete absence of alpha-glucan
Leads to glutamate auxotrophy and poor growth on rich medium containing lactate, a nonfermentable carbon source, when CIT1 is also deleted
Embryos show no defects in early central nervous system (CNS) development but display defective CNS cell corpse engulfment (PubMed:12765609). Increased number and volume of apoptotic particles in the nerve cord (PubMed:18455990). Suppression of glial engulfment of larval axons which results in defective axon pruning with most larval axons remaining in the mushroom body dorsal lobe at 18 hours after puparium formation in contrast to the wild-type where most of the larval axons are pruned by this time (PubMed:16772168, PubMed:16772170). Failure of glia to respond to axon injury, resulting in severed axons not being cleared from the CNS (PubMed:16772169). Impaired clearance of degenerating dendrites (PubMed:24412417). Highly abnormal neuromuscular junctions characterized by reduced synaptic growth, the accumulation of presynaptic debris and pruned ghost boutons, and reduced larval mobility (PubMed:19707574). Significant defects in germ cell engulfment by follicle cells (PubMed:22992958). Defective larval salivary gland death with persistance of salivary gland material in 98% of mutants 24 hours after puparium formation (PubMed:20577216). Reduced hemocyte phagocytosis of S.aureus following infection with infected flies dying earlier than controls (PubMed:19890048). Following wounding, impaired migration of macrophages to wound sites (PubMed:26028435). Reduced lifespan (PubMed:25111228, Ref.27). Reduced climbing performance and impaired motor function with mutants displaying abnormal positioning of the legs and a rapid age-dependent decline in locomotor activity from 3 days to 7-10 days of adult life (PubMed:25111228). In 30-40 day old flies, pathological changes in thoracic skeletal muscle, such as loss of striation, variability in fiber size and vacuolization, that mainly affect the tergal depressor of the trochanter.(PubMed:25111228) Marked degeneration and vacuolization of the nervous system including brain and thoracic ventral ganglia, and degeneration of the retina and optic ganglia (PubMed:25111228). RNAi-mediated knockdown results in greatly reduced phagocytosis of apoptotic cells (PubMed:15342648). RNAi-mediated knockdown in neurons does not affect clearance of axon fragments resulting from developmental axon pruning but RNAi-mediated knockdown in glial cells results in defective clearance of axon fragments (PubMed:16772170). RNAi-mediated knockdown in the mesoderm or in adult precursor muscle cells results in impaired locomotor activity which is not seen following RNAi-mediated knockdown in neurons or glia (PubMed:25111228)
RNAi-mediated knockdown results in shorter and fatter dauer phase animals (dumpy phenotype) (PubMed:12921736, PubMed:15936343). RNAi-mediated knockdown results in a folded pharynx in some animals (PubMed:12921736). RNAi-mediated knockdown results in no alae formation (PubMed:12921736). However, other studies indicate that RNAi-mediated knockdown results in partially formed alae (PubMed:15936343)
Impaired growth during iron limitation conditions and a strong accumulation of intracellular ferri-bacillibactin
A single deletion is slightly more sensitive to oxidative stress (cumene hydroperoxide and plumbagin). A double bfrA-bfrB mutant grows 40% less well in the presence of an iron chelator, is more sensitive to oxidative stress, has significantly reduced pathological effects in guinea pigs and a marked reduction in its survival in human macrophages
Impairs the production of swainsonine but does not affect virulence
Reduced adult size and ovary size, and prolonged developmental time
Mice were born at the expected Mendelian frequency and do not show overt phenotype under normal conditions. They however develop a slowly progressive loss of coordination after birth and develop ataxia and seizures. Defects are due to dysfunctional cerebellar Purkinje cells and defective skeletal muscle. Mice display tissue-specific coenzyme Q deficiency: coenzyme Q levels are normal in younger mice but significantly and specifically reduced in skeletal muscle. However, normal coenzyme Q levels are observed in whole cerebella, suggesting that cerebellar Purkinje cells are specifically affected
Cells are defective in DNA replication, S-phase progression, chromatin structure and cytokinesis. Dre4-54 truncated temperature-sensitive mutant has 'Trp-117' changed to a stop codon
Flies exhibit wing and pigmentation defects. Females are sterile, males are partially sterile
Cells lacking this gene are highly attenuated for virulence in mouse models of infection. Salmonella epmA and epmB mutants share extensive phenotypic pleiotropy, including an increased ability to respire under nutrient-limiting conditions, hypersusceptibility to a variety of diverse growth inhibitors, and altered expression of multiple proteins, including several encoded on the SPI-1 pathogenicity island
Death at the first instar larval stage (PubMed:9601646). Conditional RNAi-mediated knockdown in the female germline reduces ovary size (PubMed:24786828). RNAi-mediated knockdown in both larval salivary glands and fat body, results in small salivary glands displaying ectopic lipid storage and reduced expression of CdsA (PubMed:24603715)
Impaired abscisic acid (ABA) biosynthesis
Mice show a severe block in B-cell development at the pre-B stage in the bone marrow. Additionally, they possesses small thymuses revealing a defect in T-cell development. The distribution of developmental subsets is relatively normal, suggesting a block in the expansion of early T-cell progenitors. Peripheral T-cells are present at normal or increased numbers but are functionally incompetent
Disruption of this gene suppresses the NO-sensitive phenotype of an mpa mutant, and therefore restores NO resistance to a proteasomal-degradation-deficient M.tuberculosis strain. In addition, the disruption mutation in Rv1205 partially rescues the defective growth of the mpa mutant in the lungs and spleens of mice. Strains lacking Rv1205 show a significant reduction in the amount of several cytokinins: iP levels are almost 30 times lower in mutant supernatants, along with a corresponding increase in the concentration of the cytokinin precursors, and the level of 2MeS-iP is reduced by almost two orders of magnitude in these strains
Growth retardation (e.g. delayed flowering) and abnormal chloroplasts (e.g. less organized with fewer stacks). This phenotype is reversed under very low light conditions. Enhanced tolerance to oxidative stress
Reduced melanisation 2 in embryos 2 days post-fertilization (dpf), misplaced pigment cells in the tail at 3 dpf, and abnormal jaw morphogenesis at 4 dpf and 5 dpf
Impairs the secretion of mannosylerythritol lipids (MELs)
RNAi-mediated knockdown results in embryonic lethality (PubMed:11590237, PubMed:18765790, PubMed:19109417). RNAi-mediated knockdown results in defects in mitosis which include the formation of chromatin bridges in between sister chromatids during anaphase (PubMed:11590237). There is also defective chromosome segregation, premature spindle pole separation and incorrectly attached kinetochores (PubMed:18765790). In addition, localization of the spindly-like protein spdl-1 and the other Rzz complex components czw-1 and zwl-1 to the kinetochore is abolished (PubMed:18765790)
Disruption of the gene severely affects the ability of the mutant to utilize maltose, cellobiose, starch, cellulose, chitin and chitosan, but not glucose. The null mutant lacks (GlcNAc)2-uptake activity, but GlcNAc transport activity is unaffected. Mutant shows defects in induction of chitinase production
The heart chambers in mutant animals are huge, constituted of a monolayered myocardium lined by endocardium
Not required for Mg(2+) influx by MgtB
RNAi-mediated knockdown causes an arrest at the gastrulation stage in 30 percent of embryos (PubMed:12930831). The surviving adults lay a substantial number of unfertilized oocytes (PubMed:12930831). However, brood size is only slightly reduced (PubMed:24663498). In the gonads, the pachytene zone is expanded in 15 percent of animals and oocyte nucleolus disassembly is delayed (PubMed:24663498). Mutant 1-cell embryos have a delay in meiotic exit during which chromosomes fail to decondense after polar body extrusion and oocyte and sperm pronuclear envelope formation is delayed (PubMed:17021038). In addition, 33 percent of 1-cell embryos have impaired chromosome segregation at meiotic anaphase II (PubMed:17021038). During meiotic exit delay, sperm pronucleus/centrosome complex (SPCC) dissociates prematurely from the posterior cortex resulting in a failure to establish anterior-posterior polarity subsequently leading to a symmetric division in half of the 1-cell embryos (PubMed:17021038, PubMed:20599902, PubMed:28065742). Premature microtubule nucleation prior to the sperm pronuclear appearance occurs (PubMed:17021038, PubMed:20599902). Cortical flows, pseudocleavage and asymmetric localization of par-1, par-2, par-3 and par-6 are absent, and cytoplasmic P granules and pie-1 are mislocalized prior to the first mitotic division (PubMed:17021038, PubMed:20599902, PubMed:28065742). In addition, non-muscle myosin nmy-2 foci fails to clear from the posterior part during polarization in half of the 1-cell embryos (PubMed:28065742). Simultaneous RNAi-mediated knockdown of cyclin cyb-3, causes a failure to extrude the second polar body and prevents anaphase entry in some of the 1-cel embryos (PubMed:17021038). Also restores normal timing for meiotic exit but not the establishment of AP axis polarity (PubMed:17021038). Simultaneous RNAi-mediated knockdown of dynein heavy chain dhc-1, restores anterior-posterior polarity, par-1, par2 and par-6 asymmetric localization and pseudocleavage formation (PubMed:20599902)
Embryonic death at 10.5 dpc (PubMed:17611414). Embryos are smaller in size, malformed and exhibit sparse cellularity in comparison to normal or heterozygous litter mates (PubMed:17611414). Show inability to form a proper embryonic placenta. Display high incidence of cell aneuploidy due to abnormal chromosomal segregation (PubMed:17611414). Show abnormal formation and localization of heterochromatin (PubMed:21854770)
Chlorina and retarded growth
Compromises the ability to acquire iron in vitro and reduced virulence in diabetic ketoacidosis (DKA) mice (PubMed:20545847). RNAi-mediated knockdown decreases virulence in a mouse model of 3-hydroxybutyric acid (BHB)-induced acidosis (PubMed:27159390)
Mutant lacks acetoacetyl-CoA transferase activity
Death at the transition from the first to second instar. Morphological changes in MVBs and developmental defects in the compound eye. However, for the ligands and receptors tested, changes in their cell surface levels or their delivery to lysosomes have not been detected. In early embryos and during sperm individualization defects in actin cytoskeleton organization ocurr
Disruption mutant shows reduced PLG content in the cell wall, increased sensitivity to chemical and mechanical agents, reduction of biofilm formation and attenuated virulence
Null mutant gains the ability to efficiently use exogenous aminoimidazole riboside (AIRs) as a source of thiamine
Lack of sulfolipid leading to reduced growth under phosphate-limited growth conditions
Exhibits reduced pink pigment formation, but increased yellow pigment production (PubMed:22713714). Down-regulates the six genes involved in biosynthesis of the pink pigment aurofusarin (PubMed:22713714). Down-regulates also the genes involved in the mycotoxin deoxynivalenol biosynthesis (PubMed:22713714). Suppresses of aerial hyphae formation, reduces hyphal hydrophobicity and highly increases conidiation (PubMed:22713714). Impaired virulence on flowering wheat head (PubMed:22713714)
Abolishes diphthamide modification of elongation factor 2 (PubMed:32576952). Abolishes the interaction between DPH1 and DPH3 (PubMed:18627462). Resistance to diphtheria toxin, sordarin, and zymocin (PubMed:18627462, PubMed:27694803, PubMed:32576952). Sensitive to hygromycin B (PubMed:32576952)
Spores are less resistant to heat and germinate at a slower rate
Narrow tracheal tubes and thin salivary glands with reduced tube diameter and impaired tube elongation. Fails to complete dorsal closure. Fails to efficiently secrete luminal components and assemble the luminal chitinous matrix during tracheal tube expansion. In salivary glands, fails in the luminal deposition and assembly of a distinct, transient intraluminal matrix. Disrupted endoplasmic reticulum and Golgi in embryos. Null mutants die late in embryogenesis with a poorly differentiated cuticle and denticle. Defects in cell rearrangements, in branch elongation, in tube dilation and tube fusion
Mice exhibit defects in hair structure and progressive alopecia. Missense mutations cause milder phenotypes such as caracul, characterized by rough and greasy fur, and wavy hair that is pointed in different directions
Does not affect the production of scytalone
Induction of WalR-dependent gene expression. Cell wall defect
Embryonic lethality in the middle stage of development. Embryos exhibit growth arrest, while ES cells are viable. ES cells show decreased proliferation, but maintain both the undifferentiated state and the ability to differentiate
Embryonic lethal at the preimplantation stage. T-cell-specific conditional knockout does not alter the normal development of those cells but decreases their responses to stimulation through the T-cell receptor
Flies exhibit lethal defects in hindgut morphogenesis
The null allele scc3-2 is embryo lethal. The weak allele scc3-1 exhibits mitotic and meiotic defects. Heterozygote plants are dwarf and partly sterile. Reduced chromatid alignment during interphase
RNAi-mediated knockdown results in a blistered cuticle phenotype and resistance to iodide toxicity
Growth inhibition, due to inhibited onset of shoots, reduced growth of roots, leaves and shoots, late flowering, fast degradation of chlorophyll in leaves and early senescence
Predominantly embryonic lethal with 50% of embryos dying before cuticle formation and 10% showing a weak denticle belt fusion phenotype. RNAi-mediated knockdown in the developing wing results in development of ectopic chemosensory bristles along or near the wing margin on both the anterior and posterior sides
Early flowering
No changes in growth under low, medium or high light regimes (3-300 umol photon/m(2)/s). PsbZ and Ycf12 are missing from isolated PSII, although low levels of PsbZ can be detected in thylakoid membranes
Adult lethal (PubMed:12915226). In the rare adult escapers, trichomes are often absent from large areas of the thorax and wing, or they are sparse and atrophied (PubMed:12915226). In the aristae, the central core is shorter and lateral cells either fail to develop or are strongly reduced in size (PubMed:12915226). Embryos display a smooth cuticle with sparse atrophied denticles (PubMed:12915226). Isoform D: No visible phenotype (PubMed:3428601). Isoform D: Males are viable whereas females are sterile and do not lay eggs (PubMed:3428601). Isoform D: Ovaries are atrophic and slightly larger than the oviducts at the posterior end of the ovaries, and egg chambers and germline cells are not visible (PubMed:3428601). Isoform D: In female embryos undergoing gastrulation, pole cells undergo cell death and are consequently either absent or reduced in number (PubMed:3428601). Isoform D: Pole cell morphology and their position in the embryo is unaffected (PubMed:3428601). Isoform D: Embryonic germline cells are unaffected while, in female larvae, germline cells undergo cell death and by the third instar stage, the germline cells in most mutants are either absent or reduced in number whereas, in the remaining mutants, the number of germline cells are not affected (PubMed:8652413). Isoform B: RNAi-mediated knockdown results in reduced expression of miniature (m) in the developing embryo (PubMed:28506986)
Knockout animals show significantly reduced viability. Homozygous knockout mice also weigh significantly less than their wild-type or heterozygous littermates. These mice also display severe developmental eye defects, including anophthalmia, microphthalmia, and cataract, and the presence of these phenotypes is significantly increased compared to wild-type or heterozygous mice
No visible growth phenotype, increased expression of the flagellin A (flaA) the major flagellar filament component. Flagella appear normal, the average swimming distance decreases about 20%. Expression of other flagellar genes is not visibly affected unless flaA is also mutated, when an increase in their expression is then seen. mRNA for flaA remain localized to the cell pole. A double csrA-fliW deletion expresses the same amount of flagellin A as the csrA deletion, has 2 wild-type length flagella, a wild-type swimming distance and restored cell pole localization of flaA mRNA
Hermaphrodites produce fewer live progeny at 20 degrees Celsius than wild-type, and also laying more unfertilized oocytes throughout the egg-laying period (PubMed:26438299). Abnormal gonad morphology (PubMed:26438299). Delayed recovery from the developmentally arrested larval state known as dauer (PubMed:26438299). Significantly longer lifespan (PubMed:26438299). Decreased movement (PubMed:26438299). RNAi-mediated knockdown causes an increase in daf-18 transcripts (PubMed:26438299)
Fewer leaves, more flowers and higher germination rates (PubMed:23028719). Plants missing both WAPL1 and WAPL2 have relatively normal growth (slightly slower) and development but exhibit a significant reduction in male and female fertility (aborted pollen and ovules prior to fertilization and embryo defects in fertilized seed), due to blocked removal of cohesin from chromosomes during meiotic prophase (late zygotene/pachytene stage) resulting in chromosome bridges, broken chromosomes and uneven chromosome segregation, and leading to shorter siliques containing fewer seeds; this double mutant restores pollen viablitity to pollen-lethal ctf7 mutation (PubMed:25033056, PubMed:26813623). During mitosis, abnormal chromosome segregation but normal cohesin release (PubMed:25033056)
RNAi-mediated knockdown causes about 5% embryonic lethality with 1-10% of hatching larvae displaying posterior morphological defects (PubMed:15102704, PubMed:15892873). Defective intercalation of dorsal hypodermis (PubMed:15102704). Simultaneous RNAi-mediated knockdown of tbx-9 causes at least 48% of embryos to fail to hatch and those that do display severe morphological defects and die as larvae (PubMed:15892873, PubMed:15102704). Simultaneous RNAi-mediated knockdown of tbx-9 abolishes muscle expression of vab-7 (PubMed:15102704)
No visible phenotype under normal growth conditions, but mutant plants show a slight reduction of growth on a medium containing allantoin as the sole nitrogen source and accumulate ureidoglycolate
Deficient mice develop normally; however, males are sterile because of functional and structural defects of mitochondria (PubMed:17003133). Mice spontaneously develop hepatocellular carcinoma. The liver of these mice present an accumulation of five-carbon sugarphosphates and a depletion of NADPH and GSH (PubMed:19436114)
Deletion leads to growth defects when cells are grown on minimal medium containing ribose, gluconate, citrate, fumarate or succinate, but does not affect growth and morphology on minimal medium containing glycolytic substrates such as glucose, sucrose or glycerol. Mutants exhibit media-dependent filamentous or L-shape-like aberrant morphologies
Blocks the expression of the aurovertin gene cluster and impairs the production of aurovertins (PubMed:26340065)
Male and female sterility caused by disruption of chromosome segregation and condensation during meiosis (PubMed:33632744). Impaired nuclear localization of proteasome components (PubMed:33632744). Males form abnormally structured sperm and fail to properly exchange histones for protamines (PubMed:33632744)
Completely lacks ergothioneine and its precursors (trimethyl histidine/hercynine and hercynylcysteine sulfoxide)
No visible phenotype, but significant reduction in C24 VLCFAs and accumulation of C20 and C22 VLCFAs
Susceptible to systemic infection by tobacco etch virus (TEV)
No effect on fertility or litter size (PubMed:10982834, PubMed:11457897). Normal development of mast cells and natural killer cells (PubMed:10982834). Increased severity of local and systemic anaphylactic reactions (PubMed:11457897). Significantly increased sensitivity to IgE-dependent passive cutaneous anaphylaxis with greater tissue swelling and mast cell degranulation, and significantly greater and faster death rate in active systemic anaphylaxis (PubMed:11457897). However, another study found no effect on mast cell activity with no increase in mast cell degranulation (PubMed:10982834). Macroscopic hemorrhages following intradermal injection of E.coli lipopolysaccharide with increased neutrophil numbers around the site of injection (PubMed:14557414). Normal B cell development and memory B cell formation but increased production by marginal zone and memory B cells of IgM after a primary immunization and of IgM, IgG1 and IgE after a secondary immunization (PubMed:24935931). Reduced ERK activation and reduced Prdm1/Blimp1 expression, indicative of suppression of plasma cell differentiation (PubMed:24935931). No effect on antigen uptake or cytokine production by dendritic cells but dendritic cells show enhanced antigen presentation to T cells and induce increased T cell stimulation (PubMed:18792399). Increased neutrophilia, eosinophilia and mast cell degranulation following ocular ragweed (RW) sensitization and challenge, and increased lung inflammation following RW sensitization and challenge (PubMed:17761953). Increased Kitlg/SCF-induced mast cell degranulation and tissue swelling (PubMed:12884301). Enhanced IFNG production by CD8 T cells, CD4 T cells and NK cells following viral infection (PubMed:12682239)
Mice are viable. Mice lacking Tmem38a and Tmem38b show a weak heartbeat at E9.5 followed by loss of cardiomyocyte viability and embryonic lethality around 10.5 dpc
Mice exhibit a primary degenerative myopathy preceding chronic thoraco-lumbar kyphoscoliosis
Abolishes the production of citrinin (PubMed:16000748)
Mice develop an immunodeficiency characterized by impaired humoral immune responses and reduced cellular responses of B-cells similar to X-linked immunodeficiency (Xid). Mice are unable to activate NF-kappa-B and promote cell survival in B-cells upon BCR signaling, or even in mast cells. B-cells fail to recruit the I-kappa-B kinase (IKK) complex into lipid rafts, activate IKK, degrade I-kappa-B or up-regulate NF-kappa-B-dependent survival signals. Moreover, mutant animals are hyperphagic and exhibit higher food intake and reduced feed efficiency versus wild type. Mice are considerably leaner and display markedly decreased size of white fat depots. Triglyceride content in the liver and skeletal muscle is also significantly low
Deletion leads to impaired growth when the available carbon source is limited to glucose-6-phosphate (PubMed:25644013). Deletion alters also antibiotic susceptibility (PubMed:30540769)
Arrests at the L4 larval stage due to a failure to undergo the L4 to adult molt. Sterile due to the lack of functional gametes. In RNAi-mediated knockdown assays, fails to process dsRNA which results in the accumulation of high molecular weight dsRNA-derived RNA species
Cells lacking this gene show a white phenotype and produce 4-hydroxy-2,2'-bipyrrole-5-carbaldehyde (HBC), 4- methoxy-2,2'-bipyrrole-5-carbaldehyde (MBC), 4-hydroxy-2,2'-bipyrrole-5-methanol (HBM) and 2-methyl-3-n-amyl-pyrrole (MAP)
Mutants do not produce terpentecin
Lead to ER retention of PMA1
Deletion increases the susceptibility to DL-ethionine, DL-norleucine and DL-norvaline. Deletion also results in intracellular accumulation and a reduced rate of export of methionine in the presence of extracellular Met-Met dipeptides
Abolishes the production of cercosporin but accumulates a red, cercosporin-like metabolite called precercosporin
No visible phenotype under normal growth conditions, but mutant seeds have increased germination rate in presence of high salt or high mannitol, and decreased germination rate in presence of abscisic acid (ABA), glucose, fructose and sucrose
Survival to adulthood with no obvious defects in brain structure, lung and heart development and no evidence for defective cell division. Deletion in animals expressing only 12% of wild-type amounts of Myh10 results in an increase in cardiac myocyte hypertrophy and interstitial fibrosis compared with the Myh10 hypomorphic animal
Viable. Exhibits morphological abnormalities indicative of defective division sites. While division in wild-type cells occurs along sequential, alternating division planes, the mutant is characterized by the presence of multiple and atypically arranged division sites which frequently divide the cytoplasm into small cellular compartments. In wild-type cells, the replication and segregation of DNA precedes the ingrowth of a septum resulting in two equally sized daughter cells, the process of which is not seen in mutant cells. Presence of large vacuole-like spaces in the cytoplasm which appear to be filled with condensed DNA (but few ribosomes) that has not been able to correctly segregate during cell division
Homozygotes are born at the expected Mendelian ratio but most pups die around weaning (PubMed:18165320). When fed soft food from the second week of life onward, most pups catch up with the weight of their wild-type littermates and survive (PubMed:18165320). Adults display normal weight and lifespan, are fertile and do not display major behavioral abnormalities (PubMed:18165320). However, brain ventricle size is drastically reduced and mutants show diminished Na(+)-dependent recovery of pH following acid loading of choroid plexus epithelial cells (PubMed:18165320). Mutants also show reduced excitability of CA3 pyramidal neurson and have increased seizure threshold (PubMed:18165320). Increased excitability of CA1 pyramidal neurons and diminished paired pulse facilitation in the hippocampus (PubMed:26136660). No obvious morphological changes in the retina but mutants display decreased visual acuity and contrast sensitivity in behavioral experiments, smaller scotopic and photopic b-wave amplitudes and longer latencies in electroretinograms, and altered temporal response properties of ganglion cells (PubMed:23056253)
Defects in prostate ductal morphogenesis and secretory protein production (PubMed:10215624, PubMed:10906459). The bulbourethral gland displays prostatic epithelial hyperplasia, which increases in severity with age (PubMed:10215624, PubMed:10906459). Mice also display morphogenetic defects of minor salivary glands, which are reduced in size and exhibit severely altered duct morphology (PubMed:10906459)
Homozygous null mice are viable and fertile and exhibit any overt phenotype under normal conditions. However deficient mice show impaired anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Deficient mice show an accumulation of the anticancer agent topotecan in brain and cerebrospinal fluid (CSF) (PubMed:15314169). In addition, penetration of PMEA, an antiviral agent, into the brain is increased in deficient mice (PubMed:17210706)
Accumulation of full-length 23S rRNA as well as larger precursor rRNA transcripts. Strain grows slower than wild-type
The pear1 pear2 tmo6 triple mutant variably displays reduced radial growth. The pear1 pear2 dof6 tmo6 quadruple mutant plants showed a greater uniform reduction in radial growth, associated with compromised symplastic trafficking
Increases cellular tolerance to 2-deoxy-glucose
No visible phenotype, when grown under normal light conditions. Partial loss of PSII capacity after high-light stress
Inviable
No difference in chronic C57BL/6 mouse infection, but infected mice show delayed reactivation of TB (induced by aminoguanidine, a nitric oxide synthase inhibitor) compared to mice infected with wild-type bacteria. Bacterial loads in lung, liver, and spleen are similar during chronic infection, but increase more slowly in the disrupted mutant after reactivation. Pulmonary B-cell responses are reduced in mice infected with the disrupted strain at advanced stages of TB reactivation. While disease is delayed, it does eventually occur, suggesting other the Rpfs compensate
Cells lacking this gene fail to grow in the presence of cholesterol
Mice do not present any abnormality at early age but develop cardiac hypertrophy by eight months of age
Defects in synapse differentiation and growth; undergrowth resulting in reduced numbers of boutons and/or branches
No visible phenotype under normal growth conditions, but mutant plants show impaired induction of some defense-related genes triggered by pathogen infection and treatments with salicylic acid (SA) and jasmonic acid (JA) (PubMed:20040062). Increased susceptibility to the necrotrophic fungal pathogen B.cinerea (PubMed:21990940)
Mutant male mice have reduced fertility due to deficient acrosome reaction (PubMed:20424324). Mutant mice are lean and protected from age-related adiposity and fatty liver (PubMed:21266581). Mutant mice show resistance to allergen-induced asthma, with marked reduction of inflammatory cell recruitment in the lungs, reduced goblet cell metaplasia, smooth muscle cell layer thickening and subepithelial fibrosis and impaired mucus hypersecretion. This resistance to allergen-induced inflammation is associated with deficient T helper type 2 immune response and decreased eicosanoid synthesis (PubMed:17403936). Mutant mice are protected against airway allergic inflammation induced by house dust mite allergens (PubMed:29093264). Mutant mice show hair shaft abnormalities including hypoplastic outer root sheath and reduced number of melanin granules (PubMed:21266583)
Does not affect growth and sporulation, but impairs the production of HC-toxin and related pathogenicity
Mice lacking Scap in their liver show an 80% reduction in cholesterol and fatty acid synthesis in the liver as well as a lack of regulation of target gene expression in response to cholesterol deprivation or insulin elevation. Mice expressing dominant negative mutant Scap in their liver show higher levels of mature Srebf1 and Srebf2 as well as transcripts encoding proteins involved in uptake and synthesis of cholesterol and fatty acids. They show an 1.6-fold increase in liver size as well as a six-fold increase in cholesterol and a nine-fold increase in triglyceride content of the liver. Their plasma levels of cholesterol and triglycerides are reduced by 50%. They show reduced down-regulation of mature Srebf1/2 when fed a high cholesterol diet
Deletion mutant shows no growth phenotype under standard conditions, temperature stress or salt stress
No visible phenotype in ethylene response; due to redundancy with ERS1. Ers1 and etr1 double mutants display a constitutive ethylene-response phenotype
Knockout male mice are completely infertile, whereas no reproductive defects are observed in females. Spermatozoa are completely absent from caudal epididymis, which only contains round cells likely corresponding to round spermatids and multinucleated cells. Seminiferous tubules contain germ cells up to the early round-spermatid stage but condensed and elongated spermatids and mature spermatozoa are completely absent. Round spermatids do not contain an acrosomal vesicle
Cells develop precociously and exhibit abnormal cell-type patterning with an increase in the pstO prestalk compartment, a concomitant reduction in the prespore domain, and a loss of the sharp compartment boundaries, resulting in overlapping prestalk and prespore domains
Male mice are completely sterile due to defects in spermatogenesis. Chromatin in mature spermatozoa shows defects in density, due to impaired histone replacement by protamines. A significant proportion of Prm2 remains unprocessed
Tracheal morphology is grossly normal although some defects are observed. Dorsal trunks (DTs) are significantly elongated, and dorsal branches (DBs) frequently fail to fuse with their contralateral partner. Filopodia number in DBs is reduced
Single deletion has no effect on expression of cognate toxin cbtA i.e. the probable operon is not autoregulatory (PubMed:28257056). Deletion of 3 type IV antitoxin genes (cbeA, yafW, yfjZ) has no effect on cell growth (PubMed:28257056)
Bacteriolysis during the stationary growth phase. Cells lacking this gene also accumulate UDP-MurNAc-tetrapeptide, an unusual compound that normally is not present at significant levels in E.coli cells
Enhanced disease resistance salicylic acid-(SA-) dependent to the biotrophic powdery mildew pathogen Erysiphe cichoracearum at a late stage of the infection process and characterized by the formation of necrotic lesions. Enhanced ethylene-induced senescence phenotype. In edr2-6, exaggerated chlorosis and necrosis response to attack by pathogens (e.g. Hyaloperonospora parasitica, Golovinomyces cichoracearum and Blumeria graminis), but not in response to abiotic stresses or attack by the bacterial pathogen Pseudomonas syringae, characterized by initiation of cell death at infection site and hyper sensitive response (HR)
Drastically reduces the production of andrastin A
Embryonic mutants exhibit growth retardation at approximately 9.5 dpc and die at approximately 10.5 dpc. Between 9.0 dpc and 9.5 dpc hearts are severely abnormal, appear misshapen and unlooped. Hearts are completely missing the outflow tract, right ventricle, and much of the atria (PubMed:14667410). Conditional mutants for retina expression show a decrease in several gene expression levels involved in the differentiation of retinal ganglion cells (RGC) (PubMed:24643061)
Inactivation results in loss of protection by both glycine betaine and proline betaine after an osmotic upshock
Conditional CG14299 knockdown in fly larval fat bodies causes defects in the late steps of autophagy and a block in digestion of autolysosomes. Conditional down-regulation in adult fly retina reveals an incremental loss of neurons and of retina structure over time
Results in dramatic reduction in MPA production and leads to the accumulation of 5-MOA
Synaptic defects that include both overdevelopment and underdevelopment of presynaptic and postsynaptic termini (PubMed:15208641). Abnormal morphology of cholinergic and GABAergic neuromuscular junctions (NMJs) characterized by uneven distribution of presynaptic markers snb-1 and unc-17 and post-synaptic markers GABA receptor unc-49 and AChR unc-38. Also, formation of abnormally large and small synapses (PubMed:23665919). Frequency of spontaneous miniature synaptic release (mPSC) from cholinergic and GABAergic NMJs is reduced (PubMed:23665919). In a daf-2 e1370 mutant background, but not in a daf-2 e1370 and daf-16 mu86 mutant background, the morphology of NMJs is normal and normal synaptic transmission is partially restored (PubMed:23665919). Nuclear translocation of daf-16 (isoform a) is impaired in muscles but not in the intestine (PubMed:23665919)
Increased root sensitivity to high levels of fructose
Not required for aerobic growth on ethanolamine (EA) supplemented with cobalamin (vitamin B12) (PubMed:10464203). A double eutL-eutK strain grows as well as wild-type on EA and cyanocobalamin, but a quadruple eutL-eutK eutM-eutN strain does not grow (PubMed:16291677). A non-polar deletion mutant grows on EA at pH 5.5 to pH 7.0 but not at pH 8.0 or pH 8.5, releases increased amounts of acetaldehyde on EA plus vitamin B12. Preventing acetaldehyde vapor loss allow growth up to pH 8.5 (PubMed:16585748)
Reduced alkaloids and nicotin levels associated with a lower putrescine production (PubMed:32242247). Occasionally, an early senescence and a lower viability of the older leaves is observed (PubMed:32242247). Plants lacking both ODC1A and ODC1B have lower concentrations of nicotine and nornicotine as well as of polyamines (putrescine, spermidine and spermine), tyramine and phenolamides (caffeoylputrescine and dicaffeoylspermidine), but significantly higher levels of anatabine and of amino acids ornithine, arginine, aspartate, glutamate and glutamine; these phenotypes are associated with reduced plant growth and vigor, and are exacerbated by wounding and shoot apex removal (PubMed:27126795)
Disruption of the gene increases sensitivity of the cell to D-tyrosine
Abolishes the production of eupenifeldin
Mice are viable and have no overt phenotype at birth. However, they exhibit reduced reproductivity and an early onset of aging-associated phenotypes including reduced lifespan, decreased body mass, lordokyphosis, reduced hair growth and generalized fat, muscle and organ atrophy. They also display multiple hernias associated with a reduction of elastic fibers in facia, the thin layer of connective tissue maintaining and protecting structures throughout the body. However, there is no apparent macular degeneration
Deletion of the tomB-hha operon causes reduced infection of the mouse bladder but not of the kidney
Viable (PubMed:31404830, PubMed:31048465). Results in delayed hatching, locomotor defects and inability to fly (PubMed:31048465). Results in defects in axonal target areas in several central nervous system circuits (PubMed:31048465). Results in axonal and synapses defects in two distinct brain neuropils in the antennal lobes and mushroom bodies, respectively related to olfaction and olfaction-associated learning (PubMed:31048465). Reduces size of the central nervous system neuropil (a region of densely packed axons, dendrites, and synapses) (PubMed:31048465). When exposed to high concentration of carbon dioxide treatment results in a vertical held-up wing phenotype with calcium hyperactivation of neurons in the antennal lobe (PubMed:31404830, PubMed:31048465). Results in loss of synaptic arborizations from the contralateral mechanosensory neuron axon collateral with no defect in morphology (PubMed:31048465). RNAi-mediated knockdown in mechanosensory neurons eliminates terminal arbors and reduces numbers of synapses in the contralateral projecting axon collateral (PubMed:31048465)
Knockout mice are phenotypically normal and fertile (PubMed:30830864). 1 hour induced brain ischemia results in 100% fatality within 24 hours (PubMed:30830864). 30 minutes of induced brain ischemia results in an increase in infarct size in the cortex, hippocampus, and striatum (PubMed:30830864). Increased number of cortical neurons with nucleus-accumulated poly(ADP-ribose) and higher abundance of poly(ADP-ribose) in general (PubMed:30830864)
Leads to hypersensitivity to oxidative stress
Knockout mice are viable. During later postnatal development, mice demonstrate prominent neuronal degeneration
Knockout cells show deficiencies in cell multiplication and ciliary functions. Mutants move with greatly reduced velocities, have disturbed waveform of beating cilia and have stiffer cilia (PubMed:25694453). Mutant cilia lacjk an arch-like density of the radial spoke 3 base (PubMed:25694453)
Mice are viable but suffer from cerebellar ataxia and display deficiencies in primary hemostasis due to a defect in platelet activation (PubMed:9296496, PubMed:9391157). Mice lacking Gnaq and Gna11 are embryonic lethal due to cardiomyocyte hypoplasia (PubMed:9687499). Mice lacking Gnaq and with one single intact copy of Gna11, as well as mice lacking Gna11 and with one single intact copy of Gnaq die shortly after birth; lethality is caused by heart malformations (PubMed:9687499). Newborns display craniofacial defects (PubMed:9687499)
Embryonic lethal. RNAi-mediated knockdown in the trachea of first instar larvae results in discontinuous tubes. RNAi-mediated knockdown in the tracheal terminal cells of first instar larva results in lumen devoid of taenidiae and occluded with disorganized electron-dense material, pan-tracheal liquid clearance defect as well as a breaks in the dorsal trunks
Essential for growth, it cannot be disrupted
No visible phenotype under normal growth conditions (PubMed:22238602, PubMed:22396764). Mutant plants show increased susceptibility to infection by the necrotrophic fungal pathogen Botrytis cinerea (PubMed:22238602)
Reduced efficiency of intracellular multiplication of tobamoviruses (e.g. TMV-L, ToMV, PMMoV, and TMGMV), characterized by a reduced accumulation of viral coat protein (CP) and reduced amplification of TMV-related RNAs
RNAi-mediated knockdown results in mild defecation defects (PubMed:19090809). RNAi-mediated knockdown increases the levels of unprenylated rab-27 (PubMed:19090809). RNAi-mediated knockdown disrupts the localization of rab-5 and rab-7 (PubMed:19090809)
Mutant mice appear normal at birth, but develop severe skin and gastrointestinal tract inflammation around 6 to 8 weeks of age (PubMed:17137798, PubMed:20962770). They do not survive beyond 14 weeks (PubMed:17137798). This phenotype is due to the lack of activity of ITCH E3 ubiquitin-protein ligase, and consequently, prolongation of JUNB half-life after T-cell activation (PubMed:17137798, PubMed:20962770). This results in an increased production of T-helper 2 (Th2) cytokines and in the promotion of Th2-mediated inflammation (PubMed:17137798, PubMed:20962770). This subsequently leads to increased number of circulating, esophagus and small bowel eosinophils (PubMed:20962770). Mutant mice have thicker small bowel and do not gain as much weight as the wild type (PubMed:20962770). Mutant mice also show an increased iron transport in hepatocytes and iron accumulation in the liver around portal veins, in the villi of duodenum and throughout the brain cortex (PubMed:18776082, PubMed:19706893)
Deletion of the gene induces both differentiation pathways and interferes with their temporal separation
Loss of cell division in vulval lineages as a result of lengthened intervals between cell divisons (PubMed:20005870). RNAi-mediated knockdown results in arrest prior to the 100-cell embryonic stage (PubMed:10952902). Depending on the knockdown, some animals reach adult age (PubMed:17476329). In the 1-cell embryo, persistent ruffling throughout the embryo cortex and mislocalization of par-2, which remains cytoplasmic, and par-6, which is distributed throughout the cortex. In 50 percent of embryos, the first division is symmetric. Adult mutants are sterile due to a lack of sperm and egg production (PubMed:17115027). In mutants and knockdown animals, production of 2 additional distal tip cells (DTC) is often associated with the production of an extra gonad (PubMed:17476329). In addition, gonads of knockdown animals have an abnormal mitotic zone characterized by an enlargement of the distal germ cell nuclei, a reduction in the number of mitotic germ cells, a reduction in the mitotic region length and an abnormal expression of gld-1 (PubMed:21455289)
Lack of GOT1 is lethal in a strain lacking SFT2
At the asexual blood stage, causes Maurer's cleft swelling and fragmentation, aberrant knob formation, with fewer and enlarged knobs, defective PfEMP1 trafficking characterized by impaired EMP1 surface expression and EMP1 accumulation at Maurer's clefts and a loss of adhesion of host infected erythrocytes to endothelial cell ligands (PubMed:32184257). Infected erythrocytes have decreased cellular rigidity and increased osmotic fragility (PubMed:32184257). Parasite growth is faster (PubMed:32184257)
Inactivation leads to ferrous iron chelator resistance as the wild-type
Dramatic impairment of clathrin-mediated endocytosis, severe defects in motility and death at the early L2 larval stage
Show a subtle phototaxis defect. mgp1-/mgp2-cells have a severe fruiting defect, an overabundance of filopodia and slug motility and function are affected. They empty their contractile vacuoles less efficiently than normal and consequently they have three times the usual number
Accumulation of proglutelins in seed endosperm (PubMed:23723154). Abnormal organization of the protein storage vesicles (type II protein bodies), and formation of secretory vesicle-like structures (paramural bodies) charged with dense vesicles in seed endosperm (PubMed:23723154)
RNAi-mediated knockdown disrupts tail tip morphogenesis resulting in retention of the pointed larval tail tip in adult males (also known as the Lep phenotype)
Defects in flower and inflorescence development in short-day conditions and delayed flowering
Mice display a reduction in monoglyceride hydrolase activity and a concomitant increase in monoglyceride levels in adipose tissue, brain, and liver (PubMed:20554061). Ten-fold increase in brain 2-arachidonoylglycerol levels, combined with low levels of brain arachidonic acid (PubMed:20554061, PubMed:20729846)
Mice show situs inversus, congenital heart defects, and embryonic lethality
Worms exhibit severe behavioral abnormalities that are characteristic of deficiencies in synaptic function, including severe locomotion, feeding, and defecation defects (PubMed:8391930). Increased survival in response to hypoxia induced by sodium azide (PubMed:22157748). Reduces the formation of neuron cell corpses in a hyperactive mec-4 or deg-3 mutant background (PubMed:22157748)
Absence of radial spokes
Lack of SLG1 leads to a significant defect of 1,3-beta-glucan synthesis and confers sensitivity to caffeine, SDS, Calcofluor and alkaline pH stress. Deletion of residues 21-256 results in non-functional protein, removal of residues 21-110 yields a protein still able to confer some tolerance to alkaline stress, and deletion of residues 116-256 has no effect on the function
Homozygous mutant mice do not nurse and die between postnatal days 1 and 3 (PubMed:9883721, PubMed:11239428). Brains are smaller than those of heterozygous or wild-type littermates, olfactory bulbs are small and olfactory bulb projection neurons are absent (PubMed:9883721). Mutant mice show severe defects of cortical development (PubMed:11239428)
Mutant flies are viable and fertile (PubMed:16103875). Shows small, developmental delays and shortened lifespans (PubMed:22964637, PubMed:33057338). Shows dysfunctional intestinal barrier with increased number of intestinal stem cells (ISC) and enteroblasts (EB) (PubMed:33057338). Results in enterocytes (EC) with fragmented mitochondria and defective depolarization (PubMed:33057338). Results in aberrant activation of JAK-STAT signaling pathway (PubMed:33057338). Shows hypersensitization to ionizing irradiation with melanotic masses, defective S phase checkpoint and decreased cell death by apoptosis (PubMed:22964637, PubMed:30231800). In neuroblasts, pros protein does not show relocalization to the nucleus (PubMed:16103875). After ionizing irradiation, simultaneous knockout of Clbn/NEMF and p53 shows similar number of DNA breaks per nucleus but absence of irradiation-induced cell death compared to single knockout (PubMed:22964637). Simultaneous knockout of Clbn/NEMF and hid has similar disregulation of apoptosis to single mutants upon ionizing irradiation (PubMed:22964637). Simultaneous knockout Clbn/NEMF and tefu increases the formation of spontaneous tumors (PubMed:22964637). Simultaneous knockout of Clbn and Pink1 rescues ATP levels, wing posture defects and impaired neuronal numbers observed in Pink1 single mutants (PubMed:31378462). RNAi-mediated knockdown results in reduced lifespan (PubMed:33057338). RNAi-mediated knockdown in EC results in increased number of progenitor cells and EE cells (PubMed:33057338). RNAi-mediated knockdown in ISC and EB, or EE cells, has no significant effect on the number of ISC, EB and EE cells (PubMed:33057338). RNAi-mediated knockdown in the smooth muscle surrounding the gut has no effect on the number of ISC, EB and EE cells (PubMed:33057338). Simultaneous RNAi-mediated knockdown of Clbn and Pink1 rescues muscular and mitochondrial morphology defects present in Pink1 knockdown single mutants (PubMed:31378462)
Knockout mice show an increase in extracellular inosine levels and consequently enhancement differentiation and thermogenic capacity of brown adipocytes (PubMed:35790189). Knockout mice show an increased brown adipocyte tissue function and browning of white adipocyte tissue, and are resistant to diet-induced obesity (PubMed:35790189)
Decreases virulence in a mouse systemic infection model (PubMed:22339665). Sensitive to: high temperature; sirolimus; fluconazole; myriocin (phytosphingosine biosynthesis inhibitor); aureobasidin A (inositol-containing sphingolipid biosynthesis inhibitor); phytosphingosine (PubMed:22339665). Abnormal sphingolipid metabolism (PubMed:22339665)
Loses the ability to produce yanuthone D, but accumulates yanuthone E (PubMed:24684908)
RNAi-mediated knockdown causes the survival of the linker cell in 16 percent of animals
Male infertility. A mutation which results in the conversion of codon 333, encoding glutamine, into a premature stop codon is detected in chemically-induced mutant Ste5Jcs1 mice; these mice are characterized by sperm motility defects and infertility
Grows slowly, colonies are smaller. Not more diamide sensitive than wild-type, sporulation normal, 15-fold more sensitive to Rif
Mice are born at the expected Mendelian rate (PubMed:8986723). The numbers of blood leukocytes are normal and neutrophils rolling on blood vessels is not affected (PubMed:8986723). Impaired LTB4-induced neutrophil adhesion to venules (PubMed:8986723). Numbers of mast cells in the peritoneal cavity, peritoneal wall and in the dorsal skin are reduced (PubMed:9862668). In an experimental model of thioglycolate-induced peritonitis, abnormal accumulation of recruited neutrophils due to impaired apoptosis (PubMed:8986723). In an experimental model of acute septic peritonitis, 5-fold increase in mortality rate, reduced neutrophil recruitment in the peritoneum, reduced histamine production and impaired bacterial clearence (PubMed:9862668). In experimental model of immune complex-mediated glomerulonephritis, reduced neutrophil accumulation without affecting their initial recruitment and reduced proteinuria (PubMed:9382884). Enhanced susceptibility to high fat diet-induced obesity characterized by a weight increase and higher levels of white and brown fat (PubMed:9207125). Reduced apoptosis in the hippocampus in neonates (PubMed:18685038)
Mice lacking Sprr2a1, Sprr2a2 and Sprr2a3 show an expansion of Gram-positive bacteria in the small intestinal lumen and mucus layer (PubMed:34735226). Mice were born in normal Mendelian ratios, are healthy and show normal intestinal morphology with no signs of inflammation in normal conditions (PubMed:34735226). They however show an increased abundance of Gram-positive bacteria in the small intestinal lumen, with a marked increase in the relative abundance of Lactobacillus, Turicibacter, and C.Arthromitus (PubMed:34735226). At the same time, a reduction in the abundance of Bacteroidetes, a class of Gram-negative bacteria is observed (PubMed:34735226). Mice are more susceptible to L. monocytogenes infection (PubMed:34735226)
Impairs the production of flavoglaucin and congeners, and leads to very low accumulation of the carboxylic acid (8E,10E,12E)-3,5,7-trihydroxytetradeca-8,10,12-trienoic acid
Deletion of the gene abolishes the generation of active hydrogenase 2, but only reduces hydrogenase 1 activity. It does not affect the maturation of hydrogenase 3. Deletion of both hybG and hypC completely abolishes hydrogenase activity
Increases frequency of mitochondrial genome loss and sensitivity to freeze-thaw stress and high concentrations of glucose
Kif7-null cells have a problem in the localization or differentiation of prestalk cells in a kif7-null/wild type mixed aggregate
Disrupts the clustering of the cholinergic receptor subunits unc-29, unc-38 and acr-16 and the GABAergic receptor subunit unc-49 at postsynaptic domains of neuromuscular junctions (NMJs), and the receptors are redistributed to extrasynaptic areas (PubMed:24896188, PubMed:26028575). Loss of neuroligin receptor nlg-1 and netrin receptor unc-40 localization to NMJs (PubMed:26028575). Isoform a and isoform c: Defects in AChR localization to cholinergic synapses (PubMed:24896188). Decreased AChR-dependent currents triggered by motoneuron stimulation (PubMed:24896188). Isoform b: Extensive dorsal muscle arm extension defects and weaker ventral muscle arm extension defects (PubMed:24896188, PubMed:22014523). Relocalization of GABAergic receptors from GABAergic to cholinergic synapses (PubMed:24896188, PubMed:26028575). Redistribution of the neuroligin receptor nlg-1 from GABAergic to cholinergic NMJs (PubMed:26028575). In a unc-6 mutant background, extensive ventral muscle arm extension defects (PubMed:22014523). Loss of unc-40 localization at GABAergic NMJs (PubMed:26028575)
Inactivation impairs expression of EsxA (ESAT-6) and EsxB (CFP-10)
Does not affect growth and pigmentation on plateculture, nor conidial formation
Strong increase of Ser protein phosphorylation
Flies are viable but most wings show wing vein defects characterized by extra veins and vein tissue, which are caused by an increase of Ras-MAPK signaling (PubMed:30442766, PubMed:32339168). Decreases sleep with night-time sleep-fragmentation patterns, primarily during the second part of the night (PubMed:32339168). RNAi-mediated knockdown in neurons of males results in reduced total sleep in combination with decreased locomotor activity, increased Ras-MAPK signaling and altered metabolism including reduced glycogen levels and increased levels of triglycerides (PubMed:32339168). RNAi- mediated knockdown in GABAA-receptor-expressing neurons causes a shortening of sleep bouts and an increase in their number during night, with an effect size similar to that seen with pan-neuronal knockdown (PubMed:32339168). RNAi-mediated knockdown in peripheral class-IV dendritic arborization neurons does not cause increased proliferation in the nervous system (PubMed:32339168). Adult-specific RNAi-mediated neuronal knockdown decreases night-time sleep compared to controls and caused an increased number of short sleep bouts during the night (PubMed:32339168). RNAi-mediated knockdown of in GABAB-receptor-expressing neurons or PDF-expressing clock neurons-had no significant effect on night-time sleep-bout number or duration (PubMed:32339168). Simultaneous knockdown of Lztr1 and Nf1 reduces total night-time sleep, increases night-time sleep fragmentation and activates the Ras pathway similarly to single knockdown (PubMed:32339168)
Mutants exhibit premature branching of commissures (PubMed:11967148). RNAi-mediated knockdown results in gonad distal tip cell (DTC) migration defects whereby DTCs do not migrate to the midbody of the hermaphrodite and as a consequence this leads to abnormal gonadal arm formation during gonad morphogenesis (PubMed:22732572). Double knockdown with mig-38 results in enhanced gonad DTC migration defects (PubMed:22732572)
Triple knockout mice NYAP1/NYAP2/MYO16 are fertile and appear healthy. However, compared to wild-type mice they show a clear reduction in brain size, exhibiting a reduction in the size of the cortex and striatum, but not the olfactory bulb or corpus callosum. The total neurite length of neurons in these mice is also significantly shorter
Pleiotropic growth defects throughout development including postembryonic growth retardation, and delayed shoot and root growth, flowering, and senescence. Lethal at 80 percent at the vegetative rosettes stage. Reduced fertility. Compromised translation efficiency of specific 5' mRNA leader sequences. Requires exogenous sugar to transit from seedling to vegetative development, but hypersensitive to elevated levels of exogenous sugars (e.g. sucrose, maltose and glucose). Enhanced sensitivity to abscisic acid (ABA) (PubMed:15548739). Impaired uORF-RNAs polysomal association (PubMed:23524850)
Mutants are severely obese and sterile (PubMed:8589726). Animals have an increased bone formation leading to high bone mass (PubMed:10660043). Have impaired T-cell immunity, Th2 responses are favoured in mutants (PubMed:9732873). CD4(+)CD25(-) T-cells of mutant mice show high levels of autophagy (PubMed:25060689)
Mutants cause specific cells to degenerate in the developing optic lobes, resulting in the absence of certain classes of columnar neurons
No effect on growth in culture, or in isolated macrophages. Essential for mouse lethality; infected DBA/2 mice survive more than 3 times longer following infection with mutant bacterium despite a similar bacterial burden. Disruption leads to repression of a number of genes including itself and several virulence-associated genes
RNAi-mediated inactivation of the gene induces lower oxygen consumption rate of the worms
Mutant loses the capability to produce nocamycin I and nocamycin II. Mutant produces a new nocamycin intermediate, 21-demethyl-nocamycin I, which was designated as nocamycin E
No macroscopic phenotype, probably due to functional redundancy (PubMed:12417707, PubMed:14688293). In plants lacking all vacuolar-processing enzyme isozymes (e.g. alpha, beta, gamma and delta) shift of storage protein accumulation from normally processed polypeptides to a finite number of prominent alternatively processed polypeptides cleaved at sites other than the conserved Asn residues targeted by VPE (PubMed:14688293). Delayed cell death of the two layers of the seed coat (PubMed:15705955)
Mutations result in the replacement of the six stamens by six petals and of the carpels by a new mutant flower
No visible phenotype. Cells exhibit normal developmental morphology
Loss of growth on fructose, but growth on glucose is slightly stimulated. Loss of growth on acetate, D-xylose, or Casamino acids
RNAi-mediated knockdown results in defective uterine seam (utse) cell nuclear migration, defective utse cell outgrowth and irregular uterine lumen formation
Deletion of the gene abolishes induction in the presence of melibiose and raffinose
Deficient mice shown deficiency of the third complex of the respiratory chain that caused profound ultrastructural changes in the heart. The outer layers of ventricular cardiomyocytes appeared to be infiltrated with macrovesicular fat deposits, having the appearance of adipocytes
Impaired nervous system development caused by inability to eliminate aberrant BTB domain-containing protein dimers
Strongly impaired growth in the presence of heavy metals such as zinc, cadmium, copper or iron
Slower degradation of chlorophyll b during dark incubation
Homeotic transformation of stamens into lodicules, and ectopic development of lodicules where they do not form in the wild-type
Overall patterning of ventral spinal cord neurons is normal at 12.5 dpc and 14.5 dpc, but there are additional ectopic V2 interneurons (V2-INs) at all axial levels of the spinal cord; phenotype exacerbated in an MNX1 mutant background (PubMed:18539116). In an MNX1 mutant background, genes typically expressed in V2-INs expressed ectopically in motor neurons (MNs) (PubMed:18539116). Abnormal guidance of motor axons in an MNX1 mutant background (PubMed:18539116)
Cells lacking this gene produce bacteriochlorophyll c (BChlc) that is not methylated at C-8(2) and show a growth rate that decreases to 60% of that of the wild-type at low light intensity. Double mutants lacking both bchR and bchQ produce bacteriochlorophyll c (BChlc) that is not methylated at C-8(2) and C-12(1), and show a growth rate that decreases to 41% of that of the wild-type at low light intensity
Cells lacking this gene have a 5-fold increased spontaneous mutation frequency. A double mutM/mutY mutant has a 1000-fold increased spontaneous mutation frequency (PubMed:12483591). Triple ytkD/mutM/mutY disrupted strains show increased mutation rates during both exponential and stationary phase (PubMed:19011023)
Mutant shows a growth defect and a lowered cellular Zn(2+) level under Zn(2+) limitation. Mutant does not bind cadmium
Increased survival of dauer larvae and reduced lipase activity in a daf-2 constitutive dauer phase mutant background
Heterochromatin spreading downstream of the silent mating-type locus HMR
Cells lacking this gene accumulate spermidine at late stationary phase and show a reduced cell viability due to a decrease in protein biosynthesis (PubMed:7642535). At 37 degrees Celsius, growth of mutant is normal in the presence of 0.5 or 1 mM spermidine. However, following a shift to 7 degrees Celsius, the addition of 0.5 or 1 mM spermidine results in inhibition of cellular growth or cell lysis, respectively. Furthermore, at 7 degrees Celsius, spermidine accumulation resulted in a decrease in total protein synthesis accompanied by an increase in the synthesis of the major cold shock proteins CspA, CspB, and CspG (PubMed:10986239)
Male mice are infertile (PubMed:32529245, PubMed:35547804). Decrease in sperm count and sperm motility, as a result of decreased numbers of pachytene spermatocytes, diplotene spermatocytes, round spermatids and elongated spermatids (PubMed:35547804). Increase in the rate of apoptosis among spermatocytes accompanied by abnormal chromosomal synapsis and failure of double-strand break repair during meiosis in the testis (PubMed:35547804). Increase in the number of sperm with abnormal mitochondria that show blurred or absent inner mitochondrial membrane cristae with decreased ATP content and oxygen consumption, together with a decrease in expression of key markers of oxidative phosphorylation such as Mtatp6/MTATP and Cstb/MTCYB (PubMed:35547804). Ejaculated sperm fail to migrate from the uterus to the oviduct due to significantly reduced sperm motility (PubMed:32529245). Spermatozoa binding to the zona pellucida is significantly reduced in vitro, resulting in a loss of fertilization, this can be rescued via weakening of the zona pellucida (PubMed:32529245). Decrease in mature ADAM3 protein in spermatozoa but normal levels are seen in testicular germ cells (PubMed:32529245). In the testis there is a decrease in abundance of proteins involved in meiosis, apoptosis, mitochondrial function and cell adhesion such as Klc3, Rad51, Bccip, Pgam2 and Mgst1 (PubMed:35547804)
Homozygote Esrrb mutant embryos die at 10.5 dpc. They have severely impaired placental formation. The mutants display abnormal chorion development associated with an overabundance of trophoblast giant cells and a severe deficiency of diploid trophoblast (PubMed:9285590). Conditional knockdown mice exhibit head bobbing and spinning and running in circles and have hearing impairment (PubMed:17765677)
Mice have no obvious phenotype but show photoreceptor cell death as early as 1 month of age shortly after completion of retinal development. Its absence severely compromises the structure of OS which are disorganized and fragmented, but the consequences on photoreceptor electrical signaling are very mild. Proteolytic cleavage is partially inhibited in the absence of orderly OS assembly in mouse retinas lacking RDS/peripherin
Defective in DIF biosynthesis and in DIF-1-induced stalk-cell differentiation. Exhibits morphological and cell type differentiation defects. DimA and dimB double mutant has the same phenotype
Conditional knockout in tachyzoites severely impairs lytic parasite growth in host cells without affecting intracellular replication (PubMed:30742070). Loss of egress from host cells; however, tachyzoite motility and host cell invasion are normal (PubMed:30742070). Guanylate cyclase GC is unstable and, together with UGO, remains trapped along the secretory pathway (PubMed:30742070). Loss of microneme secretion in response to phosphatidic acid or a decrease in vacuolar pH (PubMed:30742070)
Results in stabilization of NMD targets
Retarded growth of roots and shoots
Suppressed lifespan extension when exposed to nicotinic acid and nicotinamide. Reduced reactive oxygen species levels when exposed to nicotinic acid
Abolishes the production of xenoacremones A and B
No longer forms lytic phage
Cells lacking this gene show a reduced growth rate and yield in glucose minimal medium compared to wild-type. They also show a consistent change in the level of several metabolites whose masses can correspond to adenine, xanthine or 4-hydroxy-L-threonine
RNAi-mediated knockdown of the protein in procyclic, insect stage cells impairs assembly of the F(1) component and slows the proliferation rate of procyclic cells that are cultivated in vitro, both in the presence and in the absence of glucose in the growth medium. ATP synthesis by oxidative phosphorylation is dramatically reduced in procyclic cells
Simultaneous disruption of idtB, idtC, idtF and idtG eliminates the biosynthesis of the whole spectrum of indole-diterpenes reported to be produced by C.paspali, including paspaline, paxilline, paspalinine, paspalitrem A and paspalitrem B
Lacks acidic xyloglucan and has short root hairs
Aberrant vulval development, ectopic vulval induction, retained cell corpses and defective recruitment of dyn-1 and rab-7 to phagosomal surfaces
No visible phenotype. When associated with OBE1 disruption, plants exhibit premature termination of the shoot meristem and impaired root apical meristem establishment, leading to a diminutive phenotype characterized by an absence of roots and defective development of the vasculature
No visible phenotype. Quintuple knockout with cnnm-1, cnnm-2, cnnm-3 and cnnm-4 results in a reduced lifespan and 100% sterility
Deletion of the yeeF-yezG operon has no visible growth phenotype, however it is out-competed by wild-type cells
Plants develop a brittle culm (bc) phenotype with a reduction of up to 90% percent of cellulose content in culm
No visible phenotype under normal growth conditions, but plants are resistant to several aminoglycoside antibiotics, such as kanamycin, streptomycin, gentamicin, amikacin, tobramycin and apramycin
Reduced seed number and silique size correlated with a specifically altered amino acid composition of young siliques
Deletion of the osmU operon eliminates the residual osmoprotection by glycine betaine in a mutant that is lacking the ProP and the ProU systems. OsmU deletion has no effect on the utilization of glycine betaine as an osmoprotectant when ProP or ProU are functional
Neonate knockout mice have a curly tail, flexed lower limbs, breathe irregularly and typically die within 30 min of birth. Central nervous system (CNS) shows severe defects in the development of several major axon tracts, including: a nearly complete absence of the three early most prominent axon tracts in the brain and the ventral branch of the trigeminal nerve, absence of subcortical and striatal axons, the anterior commissure, misrouting of thalamocortical axons, a nearly complete absence of the corticospinal tract, the fasciculus retroflexus, and the mammillothalamic tract, poor fasciculation of the medial lemniscus and a disorganization of axon bundles in the reticular formation, severe defect in the asymmetric rostrocaudal orientation of dopaminergic and serotonergic axons, a large reduction or complete absence of ascending spinal axon tracts in the braistem, midbrain and thalamus, peripheral nerves defect in several motor neurons, such as in the VIIth and XIIth cranial motor nerves, the phrenic nerve, and the spinal motor nerve which failed to form connections with their respective targets and display also aberrant migration of a subpopulation of cranial neural crest cells (PubMed:12351730, PubMed:24347548, PubMed:24799694). Neonate knockout mice show fewer S-phase proliferating neuroblasts, premature cell cycle exit and enhanced apoptosis in early-stage superior cervical ganglia (SCGs), and in some cases, complete absence of sympathetic innervation of several peripheral targets (PubMed:21325504). Display also impaired rostral turning by growth cones of spinal cord commissural sensory axons (PubMed:14671310). FZD3 and FZD6 double knockout embryos have a curled tail, exhibit defects in neural tube and eyelids closure, in the orientation of hair bundles on inner-ear sensory cells and die at birth (PubMed:16495441). The following conditional knockout mice display the corresponding phenotypes: dopaminergic neuron-specific shows a defect in the orientation and growth of midbrain dopaminergic axons with an absence of striatum innervation; retinal ganglion cell (RGC)-specific displays a misrouting of a subset of optic tract axons and a lack of the medial terminal nucleus (MTN) innervation; neocortex neuron-specific displays a total absence of the posterior part of the anterior commissure and aberrant axon trajectories appearing in the external capsule; ventral telencephalon neuron-specific shows corticothalamic, thalamocortical and corticospinal tracts defect to various extent; telencephalon neuron-specific exhibits the full spectrum of axon defects seen in the classical null mutant knockout mice; cholinergic neuron-specific shows an absence of cholinergic fiber tracts passing through the striatum, a defective caudal migration of neurons of the VIIth motor nucleus and a loss of motor innervation to the face, a decrease in motor innervation of the tongue by the XIIth nerve and a complete loss of cholinergic neurons in the vomeronasal organ; oligodendrocyte neuron-specific leads to the complete spectrum of motor neuron phenotypes shown by the classical mutant knockout mice; caudal and upper thorax region-specific leads to a loss of motor innervation and an atrophy of anterior compartment muscles in the lower hindlimb by the deep peroneal nerve and a nearly absence in ascending spinal sensory axons in the brainstem, midbrain and thalamus altering the ability to transmit sensory information from the trunk and limbs to the brain in postnatal life (PubMed:24347548, PubMed:24799694)
Homozygous knockout mice lacking Bcdo2 develop normally, and both females and males are fertile when raised on standard diet (PubMed:21106934). On a diet supplemented with xanthophylls, knockout mice accumulate derivatives of these xanthophylls in all tested tissues and develop liver steatosis with large lipid droplets in hepatocytes and a significantly increased triacylglyceride content (PubMed:21106934). Accumulated carotenoids impair mitochondrial respiration, induce ROS production and cellular signaling pathways related to oxidative stress (PubMed:21106934)
Male sterility due to the production of shriveled pollen unable to germinate
Longer roots and increased number of lateral roots (PubMed:22416142). No effect on the appearance of plants or time of flowering (PubMed:22416142, PubMed:22738221). Reduced fertility (PubMed:22416142). Rbl10 and rbl11 double mutants have no visible phenotype (PubMed:22738221)
Deletion mutant retains WTA and ceases growth upon phosphate limitation (PubMed:27780866). Mutants show altered cell morphologies and effects on autolytic activity and antibiotic susceptibilities that, unexpectedly, also occur in phosphate-replete conditions (PubMed:27780866)
Lin-39 and mab-5 double mutants have reduced sex myoblast specification-specific expression of sem-2 in the developing mesoderm (PubMed:21307099). RNAi-mediated knockdown in L1-stage larvae significantly reduces the fraction of unfused P5.p-P7.p cells that express egl-18 and elt-6 (PubMed:12399309)
Mice embryos die during gestation with left-right patterning defects and severe developmental abnormalities, including cardiac malformations, exencephaly and adrenal agenesis. Show also impaired mesonephric tubules and adrenal cortex development in embryos
Abolishes the production of 15-deoxyoxalicine B
Does not lead to death. The genome contains reduced level of DNA base J in the DNA
Accumulates lipid droplets
Flies exhibit aberrant cell shape and loss of the monolayer organization of embryonic epithelia creating a corrugated cuticular surface that is riddled with holes hence the gene name scribble. Misdistribution of apical proteins and adherens junctions to the basolateral cell surface is also exhibited
Affects sporulation and reduces the expression of the DHN-melanin gene cluster (PubMed:27393422). Decreases also strongly the production of fumiquinazoline C (PubMed:33705521)
Leads to fluconazole resistance and activates genes of the PDR1 regulon including CDR1, YBT1, YOR1, RSB1, RTA1, PDH1, and NCE103; as well as PDR1-independent adhesion-related genes such as EPA1, EPA2, and EPA3
Enhanced sensitivity to freezing stress
Deletion of the gene results in the loss of hydrogenase activity and in the synthesis of the large subunits of the hydrogenase 1, 2 and 3 in the inactive precursor form
Mutant is severely attenuated in virulence
No visible phenotype (PubMed:28930672). Mice were born at the expected Mendelian ratio and show no overt phenotype (PubMed:28930672). Zygotes however display strongly reduced levels of 5-hydroxymethylcytosine (5hmC) (PubMed:28930672)
Deletion causes a reduction in chemo- and phototactic ability. Mutant has a 88:12 distribution of forward and reverse swimming (distribution is 50:50 for the wild-type)
Exhibit erratic movements with cells continuously turning around the body axis. Display longer and sharp kinks flagella. Flagella beat in a uncoordinated and deformed non-planar manner. Lost beak-like strucure projections in B-tubules of the outer doublet microtubules (DMTs) 1, 5 and 6
Mice display a kinky-tail phenotype in about half of homozygotes with defects in the nucleus pulposus and annulus fibrosus of intertebral disks. Shortening and curving of caudal vertebrae 20-25 is apparent by the age of 2 weeks
RNAi-mediated knockdown suppresses lethality and sterility caused by let-7 mutant background
Deletion of this gene impairs bacterial replication in mouse macrophages but not in human epithelial cells
No visible phenotype under normal growth conditions, but mutant plants show hypersensitivity to ABA and significant PA accumulation during seed germination
Leads to increased drug susceptibility. Displays decreased colonization of mouse kidneys. Shows decreased yeast cell adherence to silicone substrate
Essential, it cannot be deleted. Conditional silencing of the gene results in severe growth defects and drastic morphological changes. The lcpA-silencing strain contains significantly less mycolic acids and a reduced amount of arabinogalactan
Mutant fishes survive to adulthood under zinc-replete conditions, but display moderate developmental delay, characterized by reduced height at anterior anal fin, standard length and snout to vent length at 6 days post fertilization (dpf) (PubMed:35584702). They show impaired zinc homeostasis and cells show impaired activity of metap1 (PubMed:35584702)
No effect on pollen germination and growth. Prk2 and prk5 double mutant has no effect on pollen germination and growth. Prk1, prk2 and prk5 triple mutant shows reduced pollen tube elongation
Mutants do not show increased levels of free (unesterified) cholesterol
Increased sensitivity to the necrotrophic fungal pathogen Botrytis cinerea
Plants missing both PDF2 and ATML1 have reduced levels of L1 box/ gibberellic acid (GA)-regulated putative targets, including LIP1, LIP2, LTP1, FDH and PDF1, in the presence of GA and during seed germination, thus leading to a delayed germination upon imbibition (PubMed:24989044). Double mutants pdf2-1 hdg1-1, pdf2-1 hdg2-3, pdf2-1 hdg5-1 and pdf2-1 hdg12-2 exhibit abnormal flowers with sepaloid petals and carpelloid stamens in association with a reduced expression of APETALA 3 (AP3) (PubMed:23590515). In plants missing HDG3, HDG7, HDG11, PDF2 and ATML1, increased cell division leading to cell overproliferation (PubMed:25564655)
Impairs the production of griseofulvin, but accumulates the intermediates griseophenone C, monochlorinated griseophenone G and dichlorinated griseophenone G (PubMed:23978092)
Embryonic lethal, when homozygous and no visible phenotype, when heterozygous
Defects in spikelet morphology, including floral organ numbers, depletion of lemma and/or palea (Fig. 4D), increased numbers of stamens and pistils
Critically short telomeres (PubMed:15131081). Reduced accumulation of telomerase RNA TER (PubMed:15131081)
Mice are phenotypically normal but more sensitive to organophosphorus insecticide toxicity
Leads to the accumulation of ignosterol (ergosta-8,14-dienol), and of a new sterol, ergosta-8,14,22-trienol (PubMed:11897574). Results in slow growth and significant increased sensitivity to an allylamine antifungal and to selected cellular inhibitors including cycloheximide, cerulenin, fluphenazine, and brefeldin A (PubMed:11897574). Slightly increases resistance to azoles (PubMed:11897574). Significantly reduces pathogenicity in a mouse model system and fails to produce germ tubes upon incubation in human serum (PubMed:11897574)
Strains lacking this gene appear to be not viable, even in the presence of high levels of exogenous inositol
Reduction of 18:2 and 18:3 triacylglycerols (TAG) accumulation in seeds by 40 percent
RNAi-mediated knockdown results in spontaneous melanization of the tracheal system in larvae and pupae (PubMed:18854145, PubMed:22227521). Displays melanization at the 2nd or 3rd larval stage and affected larvae die a few days after it first occurs (PubMed:18854145). Melanization is first detected between tracheal cells and the overlying cuticle, then increases in intensity and spreads to the epithelial layer of the affected tracheal cells (PubMed:18854145). Increased expression of the antimicrobial gene Drs in the trachea and fat body (PubMed:18854145)
Male mice are infertile with globozoospermia. Spermatozoa display a default in acrosome formation and are unable to activate oocytes
Mice lacking Suv39h1 and Suv39h2 display severely impaired viability and chromosomal instabilities that are associated with an increased tumor risk and perturbed chromosome interactions during male meiosis. They also show a higher level of histone H3 with phosphorylated 'Ser-10' and a reduced number of cells in G1 phase and an increased portion of cells with aberrant nuclear morphologies
Cells lacking this gene are blocked in YukE secretion
Forms white aerial mycelium. Sporulation is reduced, spores are heat sensitive, lyse frequently and highly irregular in size. Septum placement and spore cell wall thickness is irregular
Mice are viable and show no malformations. However, homozygous males exhibit complete male sterility due to severe defects in sperm mobility. Sperm from mutant mice is characterized by normal flagellum length, but most of them showed abnormal forms and irregular caliber of the midpiece. Females are fertile and give litters of normal size
Severe reduction in the number of hatched larvae (PubMed:19879147). Simultaneous RNAi-mediated knockdown of egg-5 results in no viable progeny and causes endomitosis in the uterus, generation of polyspermic embryos and defects in meiosis completion, polar body formation and eggshell chitin layer formation (PubMed:19879147). In addition, posterior formation of F-actin cap at the cortex oocyte and its polarized dispersal after fertilization are impaired (PubMed:19879147). Prevents mbk-2 localization to the unfertilized oocyte cortex without affecting egg-3 cortical localization (PubMed:19879842, PubMed:19879147). Prevents mbk-2, egg-3 and chs-1 re-localization to cytoplasmic foci at meiosis anaphase I (PubMed:19879147). Simultaneous RNAi-mediated knockdown of egg-5 and mel-26 causes premature phosphorylation of mei-1, a mbk-1 substrate, during oocyte maturation (PubMed:19879842)
Mutants show defects in septation and separation, and form very long filaments (1.5-fold increase). The phenotype is exacerbated when combined with nlpD (over 8-fold longer), more exacerbated with a triple mepM (yebA) or ygeR disruption (15-fold longer) and further yet by the quadruple disruption mutant (envC-nlpD-mepM(yebA)-ygeR, over 21-fold longer). Quadruple mutants are less sensitive to ampicillin lysis
Mutants cev1 are dark green and contains more jasmonates and ethylene, that leads to shorter and thickened hypocotyls and roots, with prolific root hairs, and the accumulation of purple anthocyanins. They exhibit constitutive and high expression in leaves lamina of vegetative storage proteins (VSP1 and VSP2), basic chitinase CHI-B and plant defensin PDF1.2. In addition, this mutation confers resistance to powdery mildew pathogens such as E.cichoracearum, E.orontii and O.lycopersicum, to the bacterial pathogen P.syringae pv maculicola, and also to the green peach aphid M.persicae (PubMed:11340179). The double mutant tip1-5 ixr1-2 exhibits a reduced plant growth with stronger developmental defects phenotypes than each single mutant and associated with thin cell walls and reduced cellulose content in iterfascicular fiber cells (PubMed:35644016)
Defective mitochondrial fusion in spermatids results in onion-staged nebenkerns with irregular borders that contain many small mitochondria (PubMed:18799731). At the leaf-blade stage nebenkerns contain many small mitochondria instead of the two mitochondria derivatives seen in wild-type spermatids (PubMed:18799731)
Mice are viable and normal; however, both males and females are completely infertile (PubMed:16982049, PubMed:32054698). In females, Zglp1 absence leads to a severe block in germ cell development as early as 17.5 dpc (PubMed:16982049). Ovaries at postnatal day (P) 8 and 6 weeks are highly atrophic with no ovarian follicles (PubMed:32054698). Ovaries as early as 17.5 dpc contain a drastically reduced number of cells expressing Ddx4 (PubMed:32054698). In males, Zglp1 absence leads to defective sperm development with a marked reduction in mature spermatids observed as early as postnatal week 1 (PubMed:16982049). Male germ cells develop normally until P7 (PubMed:32054698). Subsequently, they display severe impairment in the first wave of spermatogenesis: unlike in females, germ cells entered into meiotic prophase, but fail to progress beyond the zygotene stage, resulting in a large fraction of abnormal pachytene cells both at P15 and P20 (PubMed:32054698)
Altered phytochrome regulation and shorter circadian oscillations (PubMed:10097183, PubMed:19218364). Abnormal pace and rhythmicity of the circadian clock (PubMed:25246594). The double mutant cca1 lhy accumulates higher levels of JMJ14 but lower levels of ATXR3/SDG2, and exhibits damped H3K4me3 levels near the transcription start sites of genic regions (PubMed:31429787)
Lethal under normal growth conditions and stunted albino plants unable to produce seeds when grown in presence of sucrose
Increased sensitivity to ionizing radiation with reduced survival compared to wild-type animals. Loss of induction of apoptosis following UV-C or ionizing radiation treatment but no effect on apoptotic response induced by X-ray exposure. Low brood size, reduced viability and sterility, appearance of a high-incidence-of-males (Him) phenotype, and reduced chromosome number due to chromosome fusions
No visible phenotype in normal conditions (PubMed:29462792). Slight reduction in root length when grown on media containing indole-3-butyric acid (IBA) (PubMed:29462792). Hypersensitivity to the auxinic phenoxyalkanoic acid herbicide 4-(2,4-dichlorophenoxy)butyric acid (2,4-DB) (PubMed:30315112)
Animals arrest at the first larval stage of development with an unattached pharynx (PubMed:26153233). Able to form neurons, but with defective terminal differentiation of both AWC and AWB olfactory neurons, OLL and IL1 sensory glutamatergic neurons and cholinergic neurons including IL2, URA and URB (PubMed:26153233, PubMed:26341465). RNAi-mediated knockdown results in failed transdifferentiation of the Y rectal epithelial cell to the PDA motor neuron (PubMed:22493276)
Worms display uncoordinated movement and paralysis
Severe ocular drainage structure abnormalities, significant elevated intraocular pressure
Semi-dwarfed phenotype, altered leaf morphology and reduced sensitivity to brassinolide and flagellin. Enhanced chlorosis and lesion formation upon pathogen infection. Bak1 and bkk1 double mutants are seedling lethal. Impaired SCOOP12-mediated growth inhibition (PubMed:30715439). Partially compromised SCOOP10- and SCOOP12-induced root growth inhibition and reactive oxygen species (ROS) production; fully compromised in the double mutant bak1-5 serk4 (PubMed:34535661)
Mutant mice are born at the expected Mendelian rate. Knockdown results in loss of serotonin uptake in synaptosomes of brainstem and cortex, abnormal barrel cortex development, enteric nervous system hyperplasia and reduced peristaltic reflexes
Homozygous knockout mice for Slc39a13 show growth retardation and results in a generalized skeletal and connective tissue disorder, namely develop progressive kyphosis after 3 or 4 weeks of age
Disruption of the gene results in complete loss of nocardicin A production
Strongly diminishes the production of asperlin
Susceptible to systemic infection by tobacco etch virus (TEV) and to some isolates of lettuce mosaic virus (LMV) and plum pox virus (PPV)
Reduced plant height and biomass. Reduced grain yield. Decreased levels of zinc an cadmium in grain, rachis, husk and nodes
Viable and fertile (PubMed:28068334). In embryos, loss of protease sup-17 cell membrane localization (PubMed:28068334). In a tsp-14 mutant background, exhibits vulva morphogenesis defects, impaired egg-laying, smaller body size and reduced RAD-SMAD reporter expression, a reporter system for the sma-6/daf-4 BMP-like pathway (PubMed:28068334). Males have severe tail defects including crumpled spicules, fused and shortened sensory rays and smaller fans (PubMed:28068334). F1 progeny die at the late embryonic stage with defects in ventral enclosure (PubMed:28068334). In a sma-9 (cc604) and tsp-14 mutant background, restores the production of the 2 M lineage-derived coelomocytes (PubMed:28068334). In a glp-1 (ar202) mutant background, partially restores normal fertility (PubMed:20220101). In a glp-1 (e2142) mutant background, enhances embryonic lethality (PubMed:20220101). In a sup-17 (n1258) or adm-4 (ok265) mutant background, causes lethality at various developmental stages (PubMed:20220101). In a lin-12 (n302) mutant background, restores egg-laying function (PubMed:20220101)
Cells grow to slightly higher density than wild-type in sublethal levels of streptomycin (PubMed:25316676)
Knockout mice are viable and fertile but show eye abnormalities; in some cases the eyes never open. Eyes are much smaller, the anterior chamber is not formed, and the pupil is markedly smaller. There are no abnormalities in brain development (PubMed:16199865). Mice show reduced smooth muscle cell (SMC) density and impaired SMC differentiation that is limited to the ascending aorta (PubMed:26854927)
Homozygous mice lacking the Slc4a9 gene have no obvious phenotypical abnormalities
No visible phenotype under normal growth conditions, but dividing cells of mutant plants exhibit abnormally broadened mitotic spindles in metaphase and anaphase. However, this does not affect chromosome alignment and segregation. Kin14c and kin14d double mutant is gametophytically lethal (PubMed:18088313)
RNAi-mediated knockdown at the procyclic stage causes moderate growth defect and reduces the levels of several mitochondrial RNAs, including never edited, unedited, and edited mRNAs as well as guided RNAs (gRNA) (PubMed:15470249, PubMed:26833087). Also results in the accumulation of fragments of the flanking region upstream of the mature 5'end of 12S rRNA, the 5' flanking sequence and the truncated 12S rRNA sequence, and the 5' full-length 12S rRNAs (PubMed:18032430)
Deficient male are infertile whereas female mutants could give birth. Deficient male show severe morphological abnormalities of the sperm flagella. The majority of spermatozoa display absent or short flagella and the flagellar axoneme is completely disorganised
Mice fail to undergo chorioallantoic attachment and labyrinth development and die in utero due to severe placenta defects
Cells lacking this gene display a derepression of rapG and rapH expression, which leads to a down-regulation of sfrA that in turn leads to the expression abolition of both comK and the late com operon comG
Leads to the gain of virulence via impairing effector-triggered immunity (ETI) allowed by host resistance (R) protein Rps1d
Essential for growth
Decreases 100-fold the apicidin F production. Leads to the incorporation of proline instead of D-pipecolic acid resulting in the production of apicidin J (PubMed:25058475)
The mutant lacks both monogalactosyldiacylglycerol (MGDG) and digalactosyldiacylglycerol (DGDG), and accumulates GlcDG. It possesses intact thylakoid membranes and shows normal maximal photosynthetic activity, albeit with reduced utilization of light energy
Deletion mutant displays only slight reduction of 5-hydroxyuridine (ho5U) modification at position 34 in tRNAs (PubMed:31253794). Cells lacking both trhP and trhO show complete absence of 5-carboxymethoxyuridine (cmo5U) modification in tRNAs; cells display a temperature-sensitive phenotype and decode codons ending in G (GCG and UCG) less efficiently than the wild-type strain (PubMed:31253794)
Male mice are infertile due to arrested spermatogenesis at the pachytene stage
Homozygous mutants are not viable. Partial loss-of-function mutation bc416 causes cell division defects with a reduction in the number of dividing NSM neuroblasts and some embryonic lethality
Insertion mutant cannot grow on 2-hydroxyisobutyric acid (2-HIBA)
Mice exhibit an elevated rate of perinatal lethality (PubMed:17108179). Surviving animals display a strong reduction in evoked glutamergic responses in thalamic neurons (PubMed:17108179). Reduction of protein level in homozygous and heterozygous knockouts leads to a graded reduction in the amplitude of the postsynaptic response to single vesicle fusion in thalamic neurons, consistent with a role for this protein in determining quantal size (PubMed:17108179). Decrease in the number of retinal hyaloid vessels at postnatal day 8 as a result of precocious regression (PubMed:30936473)
No effect on virulence in mice
Reduced arabinose content in the insoluble cell wall fraction of meristematic region (PubMed:17401635). Reduced root hair length and content of arabinosylated extensins in root cell walls (PubMed:21680836)
Deletion of the gene increases swimming motility and early biofilm formation (PubMed:21181144). Disruption partially suppresses the reduced motility of a pdeH disruption; concomitant disruption of dosC, dgcE, dgcQ and dgcN completely restores motility, suggesting these 4 genes, together with the c-di-GMP phosphodiesterase PdeH, form a network that regulates cell motility by altering levels of c-di-GMP (PubMed:20303158)
Mutant mice have smaller size, develop severe tremor and uncoordinated gait associated with marked central nervous system hypomyelination, and die prematurely during the third postnatal week
RNAi-mediated knockdown causes sterility resulting from several defects in oogenesis. Proximal ends of the gonads are filled with small germ cells and have a decrease in the number of nuclei in all stages of oogenesis especially at the pachytene stage where there is 60 percent less nuclei. In addition, animals lack a discernible rachis which is a tube-like formation of anucleate cytoplasm between pachytene nuclei, no clear transition into progression from pachytene to diplotene stage and a failure to progress from diplotene into diakinesis. Increased germline cell apoptosis (PubMed:19826475). RNAi-mediated knockdown causes truncated excretory canals associated with the formation of cysts, a reduced distribution of Golgi and ER components along the excretory canals and a decrease in cdc-42 activation (PubMed:25743393)
Impaired potassium uptake
Stunted arbuscule phenotype due to an impaired arbuscule development during arbuscular mycorrhizal (AM) symbiosis with Glomus versiforme; normal initial phases of the symbiosis, including hyphopodia formation and fungal entry into the cortex, as well as normal arbuscule development initiation, including arbuscule-associated genes expression, but strongly delayed and impaired arbuscule development (PubMed:20453115). Normal nodulation in the presence of Sinorhizobium meliloti (PubMed:20453115)
Homozygous mutant mice die in utero before embryonic day 9.0. Heterozygous mice display normal food intake but appear lean with a significant reduction in body fat, smaller adipocytes, decreased plasma insulin levels and less white adipose tissue in the gonad, groin and mesenteric regions
Blocks the production of dothistromin and accumulates versicolorin A (PubMed:12039746)
Plants display reduced response to far-red (FR) light. Seedlings develop long hypocotyls, unfolded cotyledons, no significant anthocyanin accumulation, and greening after FR light
No visible phenotype under standard growth conditions. Delays Lon protease-dependent lethality upon overexpression of Lon, but does not fully suppress it. No loss of ability to form persister cells
Generally pupal-lethal with mutants showing a wide array of homeotic transformations. Adult escapers are sterile and show pattern formation abnormalities in legs, including tissue overgrowth and small supernumerary legs. In wings, the pattern formation defects observed include duplicated bristles and sockets, transformation of campaniform sensilla (a class of sensory organ) to bristles, ectopic campaniform sensilla and reduction of intervein tissue with increase of longitudinal veins and cross-vein tissue. Mutant wing imaginal disk shows ectopic expression of neur, normally expressed in all sensory organ precursors in the posterior region of the wing disk. Increased histone H1 hyperphosphorylation in polytene chromosomes. Reduced trimethylation of histone H3 'Lys-4', reduced levels of trr protein and severe defects in pupariation and metamorphosis due to a lack of activation of ecdysone-responsive genes
Cells show only 35% of the wild-type activity
Reduced fertility when homozygous (PubMed:24206843, PubMed:24506176). High level of gametophytic aneuploidy (PubMed:24506176, PubMed:26272661). Occurrence of split sister centromeres at metaphase I (PubMed:26272661). Pans1 and pans2 double mutants are lethal when homozygous (PubMed:24206843). Increased mono- or divalent ions sensitivity resulting in primary root growth inhibition and increased lateral root density (PubMed:24134393). Hypersensitivity to microtubule-depolymerizing drugs and higher frequency of anaphase bridges under stress conditions (PubMed:26261921)
RNAi-mediated knockdown results in a squat body statue referred to as a dumpy phenotype, uncoordinated movements, and while animals can move in a sinusoidal manner, they cannot progress forward or backward, (referred to as a skiddy phenotype) (PubMed:19357781). Animals also display cuticle formation defects where the cuticle blisters at the point where the outer layers dissociate from the body, and furthermore the cuticle fails to shed and wraps tightly around the body (PubMed:19357781). In 10% of animals, the cuticle tapers in the posterior region of the body (PubMed:19357781). RNAi-mediated knockdown also results the formation of vesicle-like structures in the hypodermis, thickening of the hypodermis and in its degeneration, and as a consequence as hermaphrodites reach gravidity, the vulva protrudes and eventually ruptures, leading to death (PubMed:19357781). In addition, animals display seam cell fusion and function defects resulting from bifurcation of alae (PubMed:19357781). RNAi-mediated knockdown in males results in sensory ray defects where the rays fail to fully extend, and a reduced sized cuticular fan (PubMed:19357781)
Hermaphrodites exhibit sperm-specific sterility and only lay unfertilized eggs (PubMed:27558849). In contrast to wild-type animals, mutant males produce no or few spermatids in their gonads, but instead their gonads accumulate terminally arrested spermatocytes that do not bud and contain four haploid nuclei (PubMed:27558849). In some instances, the spermatocytes have small buds that do not form spermatids (PubMed:27558849). Oocytes and unfertilized eggs contain some larger endocytic structures tethered to yolk granules (PubMed:27558849). RNAi-mediated knockdown results in defective yolk uptake in oocytes with the appearance of endocytic structures containing yolk tethered to large membranous organelles which could be lysosomes (PubMed:25273556). RNAi-mediated knockdown results in defective endosome maturation with the accumulation of small vesicles near the gut lumen which is possibly indicative of increased endosomal fusion activity, and defective trafficking of proteins such as lmp-1 to lysosomal compartments (PubMed:25273556). RNAi-mediated knockdown in a sand-1 mutant background results in defective endosome fusion with the formation of larger, irregularly-shaped rab-5 positive endosomes in oocytes and intestinal cells, and larger yolk-containing granules than in the sand-1 single mutant (PubMed:25273556). Double RNAi-mediated knockdown together with vsp-33.1 results in defective protein trafficking to lysosomal compartments, and an irregular distribution of vesicles of various sizes throughout the gut cells (PubMed:25273556). Double RNAi-mediated knockdown together with vsp-33.1 in a sand-1 mutant background rescues the large endosome phenotype and the defective protein trafficking to lysosomal compartments in the sand-1 single mutant, but results in lethality (PubMed:25273556)
Aberrant trichome branching with an increase in number of spikes (PubMed:29643069, PubMed:29716990). The double mutant plants ect2 and ect3 exhibit delayed timing of leaf formation and altered leaf morphology (PubMed:29643069)
Seminiferous tubules of 6 month-old animals display varying degrees of testicular degeneration, with moderate to severe levels of germ-cell degeneration. Epithelial cells in the epididymis show general disorganization. Sperm count is reduced to about 1.7% of wild-type and sperm mobility reduced by half. Rara and Rarg, but not Rara and Rarb, double knockout mice exhibit growth retardation after 3 weeks. Defects are found in the growth plates with deficiency in cartilage. Growth retardation was noticable in limb sketal elements such as femurs. Early lethality and male sterility due to squamous metaplasia of the seminal vesicles and prostate are also observed
Mice die during the second half of gestation; lethality is caused by heart failure due to insufficient catecholamine synthesis. Display pancreatic, intestinal and sympatho-adrenal endocrine cell development impairment. Exhibits fewer terminally dividing neuronogenic basal progenitor cells (BPs) in the neocortex
Not required for bacterial microcompartment (BMC) formation upon expression of the 21-gene pdu operon in E.coli (this gene is upstream and on the other strand from the pdu operon)
Cells exhibit aggregation-stage defects, with the aggregates that form producing normal fruiting bodies
RNAi-mediated knockdown causes an expansion of the pachytene zone in the gonads of 31 percent of animals and a delay in oocyte nucleolus disassembly. Brood size is normal and embryos are viable
Embryo lethality when homozygous. Premature arrest of endosperm and embryo development. RNAi mutant exhibits plant growth arrest and reduced expression of brassinosteroid (BR)-responsive genes, as well as abolished exogenous sugar-mediated promotion of BZR1 accumulation (PubMed:27345161). RNAi plants are impaired in sugar-mediated (e.g. glucose and sucrose) root growth promotion and associated genes expression (PubMed:23542588). In response to auxin, deficient plants have polysomes prebound by inactive ATPK1/S6K1, and loading of uORF-mRNAs and activation TIF3H1/eIF3h are impaired (PubMed:23524850). In RNAi plants, severe alteration of watermelon mosaic virus (WMV) infection, but only slight delay of turnip mosaic virus (TuMV) infection (PubMed:25979731). Deficient plants are resistant to viral infection by cauliflower mosaic virus (CaMV), by failing to support CaMV Tav protein-mediated transactivation of reinitiation (PubMed:21343906)
Disruption of the gene leads to embryonic lethality during early gastrulation. Intestine-specific knockout mice display severe growth retardation due to reduced fat absorption and decrease in lipid release from the intestinal epithelium to the lymph and blood. Liver-specific knockout mice display impaired VLDL lipidation leading to reduced plasma triglyceride levels in the fasted state. Liver-specific knockout mice also display a disturbed glucose metabolism caused by a reduced plasma membrane localization of the glucose transporter GLUT2
Morpholino knockdown in embryos results in small eyes, small head and brain edema at 1 and 2 days post-fertilization (dpf). At 3 and 5 dpf, mutants exhibit features of an undifferentiated retina with loss of detailed architecture and a significant reduction in eye size. Structures such as the rod and cone layers are not concentrically organized and retinal ganglion cells and plexiform layers are not readily discernible. Mutants also show abnormal primordial germ cell migration
Embryo lethality at the heart stage
Complete loss of cell junctions. Lacks actin-containing adherens junctions at the top of the stalk tube. Has weak stalks causing the fruiting body to frequently collapse. Displays multiple stalks appearance during late development. Shows no defects in growth or division
Mice survive and appear outwardly normal. Analysis of their stomach contents reveals that mice are hypochlorhydric. Their gastric mucosa reveal an sharply reduced numbers of parietal cell, a loss of mature chief cells, an increased numbers of mucous and undifferentiation cells and an increase in the number of necrotic and apoptotic cells. Parietal cells exhibit limited development of canalicular membranes and a virtual absence of tubulovesicles and some of the microvilli had centrally bundled actin
Casp6-knockout mice are grossly normal, breed with Mendelian ratio, and are only slightly protected from anti-Fas/CD95-induced cell death (PubMed:11062535). Casp6-deficient neurons undergo apoptosis and exhibit soma and axon degeneration just as wild type neurons (PubMed:23695670). While Casp6-deficiency is able to block axon degeneration with local deprivation, it is incapable of doing so with global deprivation (PubMed:23695670). In addition, B-cell differentiation into plasma cells is accelerated in deletion mutants compared to wild-type (PubMed:18981099, PubMed:29863787). Casp6-knockout mice are more susceptible to influenza virus infection (PubMed:32298652)
Wound healing defects. Delay in reepithelialization from the hair follicle while the healing of full-thickness skin wounds is not impaired
No visible phenotype under normal growth conditions, but mutant plants display enhanced freezing tolerance upon cold acclimation
Leads to accumulation of norsolorinic acid and a substantial reduced production of aflatoxin AFB1 (PubMed:7993094)
Impaired glutamate-triggered (and Ala, Asn, Cys, Gly, Ser and glutathione-triggered) membrane depolarization and calcium rise (PubMed:17012403, PubMed:18162597). Reduced wound-activated surface potential changes (WASP) duration in the wounded leaf, resulting in a decreased induction of the regulators of jasmonate-signaling in the systemic leaves (PubMed:23969459). Glr3.3 and glr3.6 double mutant has no detectable changes in surface potential in systemic leaves and the induction of the regulators of jasmonate-signaling is more strongly decreased (PubMed:23969459)
Impaired cone response recovery and delayed dark adaptation
Loss of MIC2 O-fucosylation (PubMed:30514763, PubMed:30538131). Nuclear O-fucosylation is normal (PubMed:30538131). MIC2 protein levels are decreased by 50 percent. Abnormal MIC2 accumulation in the early/mid-secretory pathway (PubMed:30538131). The number of plaques caused by tachyzoite infection of human foreskin fibroblasts (HFF) is reduced by 40 percent (PubMed:30538131). The number of tachyzoites that are attached to or invaded the host HFFs is reduced. Egress from the HFFs is also partially impaired (PubMed:30538131). However, another study shows that loss of POFUT2 only leads to a small decrease in MIC2 protein levels and has no effect on MIC2 trafficking and interaction with M2AP (PubMed:30514763). Also, the number of plaques caused by tachyzoite infection of HFFs is reduced by only 20 percent and tachyzoite adhesion to and invasion of HFFs are normal (PubMed:30514763)
Resulted in about a 5-fold reduction in leporin C accumulation while leporin B is not detected (PubMed:26051490)
Disruption of the gene results in the constitutive expression of the entire RicR regulon and hyper-resistance of the cell to copper
Grossly normal movement. In addition, in response to induced acetylcholine release, there is prolonged and slow decay of excitory postsynaptic currents which results in increased release of synaptic vesicles during that late phase of synaptic vesicle release in cholinergic motor neurons. Knockout in an lgc-46 gain of function mutant background suppresses the slow locomotion defect in the single lgc-46 gain of function mutant. Knockout together with gain of function mutations in lgc-46 and acr-2 suppresses the convulsion defects in the double lgc-46 and acr-2 double gain of function mutant
Reduced growth, slightly pale green leaves, reduced levels of chlorophyll and heme, and low non-photochemical quenching (NPQ)
Viable with no obvious developmental defects. Insensitive to RNAi-mediated gene silencing. Increased sensitivity to viral infection
Display directionality defects during chemotaxis as well as defects in random motility (PubMed:20493808)
Aberrant trichome branching with an increase in number of spikes (PubMed:29643069). The double mutant plants ect2 and ect3 exhibit delayed timing of leaf formation and altered leaf morphology (PubMed:29643069)
Impairs kojik acid production (PubMed:21897021)
RNAi-mediated knockdown abolishes production of dauer pheromone daumone 2, severely reduces production of daumone 3 and increases production of daumone 1
Deletion of the gene retards the release of a translocating outer membrane protein into the periplasm (PubMed:18439025). Null mutation leads to the induction of the periplasmic stress response. Null mutants are hypersensitive to hydrophobic antibiotics such as novobiocin and to detergents such as SDS, and exhibit altered outer membrane proteins profile (PubMed:9670013). In contrast, another study shows that inactivation of the gene has no discernible effect on the levels of outer membrane proteins (PubMed:16267292). Lack of the gene confers increased temperature-sensitivity in a degP mutant (PubMed:20920237)
(Microbial infection) Deletion of the gene leads to partial reduction in the plating efficiency of bacteriophage T4
Mice display Fanconi anemia-like phenotypes, characterized by subfertility, germ cell attrition, interstrand cross-links (ICLs) sensitivity and cancer susceptibility
Lack of isoform D causes an increase in niche cell size and abnormal terminal filament organization. This in turn increases niche capacity by increasing the potential contact surface between CpCs and stem cells. Lack of isoform C causes defects in the organization of the follicle cell layer and defects in dorsal appendage morphogenesis
Accumulation of spermatocytes with cytoplasmic abnormalities. Early spermatocytes are filled with small, refractile cytoplasmic inclusions, late spermatocytes often contain up to three hook-shaped structures in the cytoplasm. Testes are short with incomplete coiling. The sheath of pigment cells that covers the muscle layer surrounding the testis frequently peels away, particularly from the region near the tip. Female fertility is also reduced, ovaries are small and misshapen
Results in the loss of production of ochratoxin A and the intermediates ochratoxin B and ochratoxin beta (PubMed:33540740, PubMed:30054361). Leads to down-regulation of expression of the cluster genes otaA, otaB, otaC and otaD (PubMed:30054361, PubMed:33540740)
Mutant is unable to grow on fructose as sole carbon source
Abolishes the production of pseurotin but leads to the accumulation of deepoxy-synerazol (PubMed:24082142, PubMed:24939566)
Defective endocytosis by occytes characterized by either reduced or non-detectable yolk protein in the oocytes and by an accumulation of aggregated yolk in the pseudocoelomatic space (PubMed:19798448). This is more pronounced in the double knockout with toca-2 where nearly 100% of animals display this phenotype (PubMed:19798448). Double knockout mutants with toca-2 also produce 20% fewer eggs compared to wild-type animals and there is some embryonic lethality whereby the dying embryos display defective morphogenesis including failed epidermal enclosure with extruding gut cells and increased width of the intestinal lumen (PubMed:19798448). This perhaps results from failed intercalation and migration of hypodermal cells and irregular protein trafficking as indicated by an accumulation of the cell junction protein ajm-1 and diffuse localization of actin at cell junctions (PubMed:19798448, PubMed:26578656). These double mutants also demonstrate defective endosomal sorting of recycling cargo proteins such as mig-14 (PubMed:25775511). Double knockown with unc-84 results in defective hypodermal P-cell nuclear positioning with nuclei failing to migrate during larval development and a reduced number of GABA neurons (PubMed:23150597)
RNAi-mediated knockdown results in viable hermaphrodites as in wild-type
Morpholino knockdown has no effect on overall morphology, and at the onset of blood circulation at 24 hours post-fertilization (hpf), blood cells are present, however between 33 and 48 hpf, blood cells are absent, and embryos develop cardiac edema (PubMed:23071114). Hemoglobin undetectable (PubMed:23071114). Some embryos recovered blood circulation at day 4 after knockdown, whereas others became severely edematous at day 4-5 and died by about 7 days (PubMed:23071114). At 28 and 48 hpf, expression of band3 almost abolished; embryonic alpha-globin1 also significantly reduced at 28 hpf (PubMed:23071114)
No obvious phenotype, but mice present subtle behavorial changes with some deficits in spatial learning and memory. In addition, mice have reduced brain volume. Mice lacking both NLGN1 and NLGN2, or NLGN1 and NLGN3, are viable, but have impaired breathing, drastically reduced reproduction rates and striking deficits in raising their offspring. Mice lacking NLGN1, NLGN2 and NLGN3 are born at the expected Mendelian rate, but die shortly after birth due to respiratory failure. They do not show a significant change in the number of synapses, but synapse function is strongly impaired. Mice exhibit social novelty and fear-conditioning deficits and also show reduced wakefulness duration and altered EEG during wakefulness and sleep
Complete embryonic lethality. No homozygous embryos are detected at any stage of embryonic development
Abnormal reticulophagy
Plants are gametophytic lethals (PubMed:15201912). During meiosis, reduction in the formation of meiotic crossing-overs and a failure of chromosome synapsis, leading to a dramatic reduction in fertility (PubMed:21217641)
Lethality occurs at or shortly after birth, associated with cleft secondary palate (PubMed:15870292). Skulls at late embryonic stages show multiple abnormalities including complete loss of alisphenoid, squamosal and vomer bones, and poorly developed presphenoid and basisphenoid bones (PubMed:15870292). Other parts of the skeleton are not affected (PubMed:15870292). Early palate development is normal but later the palatal shelves fail to grow and elevate towards the midline, associated with both impaired cell division and apoptosis (PubMed:18948418)
RNAi-mediated knockdown results in impaired mitochondrial homeostasis with the up-regulation of the mitochondrial unfolded protein chaperone hsp-6 and impaired daf-28/insulin secretion
Mice show increased inflammation in an IFN-gamma-mediated delayed-type hypersensitivity reaction and increased susceptibility to lipopolysaccharide-induced endotoxic shock
Microcephaly and curved tails
Cells lacking this gene lead to the absence of PEP carboxykinase activity and the inability to grow on acetate or lactate
Feminized males, which display features such as the absence of one or both gonocoxites and gonostyli, or antennae with fewer and shorter setae than normal males. Mosquitoes shifts the alternative splicing of dsx and fru toward their female isoforms
Lethal when homozygous. Compromised asymmetric mitotic division in dividing microspores resulting in abortion of gametogenesis
Low levels of aliphatic glucosinolates and decreased repressing effect of brassinosteroid on glucosinolates
Impairs the production of acetylaranotin and accumulates chemically stable intermediates or shunt products such as 2-imino-3-phenyl-propionic acid amide (PubMed:23586797)
Impairs the uptake of glycerophosphoinositol (GroPIns) (PubMed:9691030). Impairs also the uptake of glycerophosphocholine (GroPCho) (PubMed:9691030)
Deletion mutants lack surface pili
Mutant mice are viable and present no obvious physical phenotype. Compared to wild-type, mutants are hyperactive, and their dorsal striatum contains higher levels of the neurotransmitters dopamine and serotonin. Cocaine treatment causes a higher increase in locomotor activity than in wild-type
Diploid deletion displays a weak budding pattern phenotype in a systematic assay
Plants exhibits a pale yellowish phenotype
Cells lacking this gene are unable to produce staphyloxanthin and cause accumulation of 4,4'- diaponeurosporen-4-al
Significantly reduced survival of cells expressing DNA ADP-ribosyl transferase (darT) mutant G49D
Mutants are hypersensitive to bromoacetate
Short root and increased root branching. Mutant plants have increased sensitivity to salt-induced osmotic stress and tunicamycin
Defective in ABA and stress responses
Mice exhibit defects in their skeleton, including kyphosis, scoliosis, crooked tails and curvature and overgrowth of long bones and vertebrae. This bone dysplasia is due to defects in the regulation of chondrocyte proliferation and differentiation in the cartilaginous growth plate. Mice also display inner ear defects including failure of pillar cell differentiation and tunnel of Corti formation, resulting in profound deafness. Mice lacking both FGFR3 and FGFR4 display pronounced dwarfism, and while their lungs appear normal at birth, they are completely blocked in alveogenesis and do not form secondary septae to delimit alveoli. These mice also show elevated serum levels of 1,25-dihydroxyvitamin D3 and reduced serum phosphorus levels
Cells grow normally but accumulate a strongly reduced amount of toxins TcdA and TcdB in the medium
Conditional knockout in PVD neuron results in a complete microtubule polarity reversal in the anterior dendrite (PubMed:30254025). Conditional knockout in motor neuron reduces the number of mitochondria in the axon (PubMed:30254025). RNAi-mediated knockdown results in reduced dendritic branch formation in PVD sensory neurons (PubMed:21205795). RNAi-mediated knockdown results in an altered distribution of recycling and late endosomes (PubMed:22634595). RNAi-mediated knockdown results in defects in nuclear migration in hyp7 hypodermal precursor cells (PubMed:27697906). RNAi-mediated knockdown in a dhc-1 (js319) mutant background results in defective nuclei migrations in larval hypodermal P-cells (PubMed:27697906)
Embryonic lethality before 14.5 dpc (PubMed:29703891). Heterozygous mice are healthy and show enhanced healthspan in a Hutchinson-Gilford progeria syndrome (HGPS) mouse model; molecular mechanisms explaining the relation between Nat10 activity and nuclear architecture defects in HGPS mouse models are however unclear (PubMed:29703891)
Leads to strong induction of aspB3 and OE_6130F
Early embryos exhibit numerous developmental defects including shortening of the A-P axis, ventralization, and defects in neural, somite, head, eye, and tail development
Morpholino knockdown of the protein causes severe deficits in laterality (PubMed:19164561). Partial loss of Kupffer's vesicle cilia with the length of the remaining cilia reduced (PubMed:19164561). Double morpholino knockdown of IER2 and FIBPB causes an almost complete loss of Kupffer's vesicle cilia (PubMed:19164561)
Photoreceptor precursors in retina produce only cones that primarily express S-opsin
Results in decreased hyphal growth and virulence; as well as to hypersensitivity to azole drugs (PubMed:33475797). Deletion of both erg24A and erg24B affects ergosterol biosynthesis and leads to the accumulation of the intermediate 4,4-dimethylcholesta-8,12,24-trienol (PubMed:33475797)
Loss of growth and seed production promotion by Piriformospora indica
Cells lacking this gene are unable to grow with hydroxylamine as the sole nitrogen source
Egg laying defective phenotype. AC fail to fuse in the majority of worms (PubMed:17488621). RNAi-mediated knockdown in a daf-7 e1372 mutant background causes a severe defect in amphid sheath cell fusion induced by entry into dauer stage (PubMed:21350017)
Requires p-aminobenzoic acid but not tryptophan for growth
Aborted ovule development due to defects in fusion of polar nuclei and central cell maturation
Cells are viable and do not display any phenotype
Completely abolishes the production of novofumigatonin, but accumulates fumigatonoid A and asnovolin A
No visible growth phenotype for the single srtE2 deletion, but considerably less ChpC is attached to the cell wall. A double srtE1-srtE2 knockout grown on minimal medium has a more severe delay in aerial hyphae formation than a single srtE1 knockout and does not make spores, on rich medium the double knockout initiates aerial hyphae formation later than wild-type and does not make spores. In the double mutant no ChpC is attached to the cell wall in liquid medium, on minimal medium chpD, chpF (SCO2699), rdlA and nepA are transcribed poorly or not at all (with no change in chpH), while very few spore chains or rodlets are seen on the aerial hyphae
Cells exhibit slow growth in the absence of nicotinate
Slightly delayed flowering. In the plants missing both FD and FDP, fd-2 fdp-1 strongly delayed flowering, even in the presence of high FT levels
Pale seeds with arrested embryo development at the globular stage in homozygous plants (PubMed:15266054, PubMed:23382868). In heterozygous plants, slight accumulation of the 23S-like precursor P-A3 (PubMed:23382868). Altered maturation of 5.8S rRNA with an especially impaired processing at the 5' end (PubMed:23382868)
Conditional knockouts in vascular endothelial cells show an increase in activated Vegfr2/Kdr in the retinal hyaloid at P6, and hyaloid vessels continue to persist at P8
Fasciation. Flattened and wider ears with irregular rows of seeds. Thicker rachis of tassels and increased floral organ numbers. Reduced vegetative growth
Male mice are sterile, testis lack elongated spermatids and mature spermatozoa, spermatogenesis is arrested at the early round spermatid stages before any spermatid differentiation occurrs and a large increase in the number of germ cells undergoing apoptosis is seen in the testis (PubMed:23727514). Mice are visually impaired at the time of eye opening (2 weeks of age), despite normal retina architecture at that age (PubMed:10967074, PubMed:11273674, PubMed:11853760). At visual maturity (3 weeks of age), the photoreceptor outer segments appear less dense and shorter than those of control animals, and at 8 weeks, retinal degeneration is observed (PubMed:10967074, PubMed:11273674, PubMed:11853760)
No strong phenotypic alterations under normal growth conditions; slightly slow growth, slightly pale green and flat leaves, and reduced seed yields (PubMed:17468262, PubMed:25010425). Increased sensitivity to Pseudomonas syringae pv. tomato strain DC3000 (PstDC3000)(PubMed:25010425)
No obvious phenotype. RNAi-mediated knockdown suppresses the egg laying defect of lin-12 n302 mutant. A similar phenotype occurs in a lin-12 and sel-5 double mutant
Loss of resistance to spectinomycin
Impairs the synthesis of terretonin but accumulates 3,5-dimethylorsellinic acid (DMOA) (PubMed:23116177)
RNAi-mediated knockdown causes hypersensitivity to Cd(2+) and exhibit Cd(2+)-elicited changes in cellular morphology. Even at the lowest Cd(2+) concentrations they arrest in the early larval stages and eventually die. The intestinal epithelial cells of hmt-1 RNAi worms upon exposure to toxic levels of Cd(2+) elaborate punctate refractive inclusions within the vicinity of the nucleus
Early embryonic lethal. Decreases the protein but not the mRNA level of Tmed3 and Tmed9. Heterozygous Tmed10 +/- mice are viable but show structural deficits in the Golgi morphology, such as the formation of dilated saccules (PubMed:10660306). Conditional knockout mice show a increase in serum interleukin-1 beta (IL1B) and inflammation levels (PubMed:32272059)
Leads to cell death when overexpressing the camptothecin mimetic TOP1-T(722)A mutant
Plants are sensitive to UVB and heat stress, and accumulate elevated levels of H(2)O(2) (PubMed:12740438). High light-dependent increased of proline, gamma-hydroxybutyrate (GHB) and gamma-aminobutyrate (GABA) levels. Treatment with gamma-vinyl-gamma-aminobutyrate, a specific gamma-aminobutyrate (GABA)-transaminase inhibitor, prevents the accumulation of reactive oxygen intermediates (ROI) and GHB in ssadh mutants, inhibits cell death, and improves growth (PubMed:15642352). The ssadh mutant defects associated with stress responses are suppressed by POP2 disruption (PubMed:18846220). In enf1, pleiotropic developmental defects including dwarfism, and abnormal leaf shape (including abaxialized and adaxialized leaves) and cotyledon associated with altered GABA and SucA levels in shoots; these phenotypes are partially suppressed by the disruption of POP2/GABAT1, GSA1, GSA2 and HEMA1 (PubMed:21690177, PubMed:25840087). Abnormal FIL expression, especially in the adaxial side, in the leaf primordia (PubMed:21690177)
Cells lacking this gene fail to grow on L-galactonate as sole carbon source
Root epidermal bulging. Partially deficient in cell wall arabinogalactan-protein (AGP). Abnormal trichoblast cell wall. Uge2 and uge4 double mutant displays a reduction in rosette and root growth, hypocotyl elongation, and secondary hypocotyl thickening (PubMed:17496119)
Cilia defects such as body curvature, hydrocephalus and left-right asymmetry. Ciliogenesis is blocked at the stage of transition zone assembly
Up-regulated expression of GLP2A/GLP5A due to derepression associated with hyperubiquitination of the target chromatin and H3K4 hypermethylation
Loss of biotin synthesis
None seen. An isbC overproducing strain cannot be made in the absence of the sibC gene
Cells lacking this gene show a severely decreased growth rate on 5'-UMP as pyrimidine source
Disruption reduces growth rate and results in an 80% decrease in the production of methylglucose lipopolysaccharides (MGLPs) directly attributable to a drastic if not complete loss of GPG synthesis
Pleiotropic developmental defects such as growth defects, semi-dwarfed phenotype, reductions in tiller number, delayed heading or no heading, abnormal panicle and spikelet morphology, and complete sterility
The growth the dcuA-dcuB double mutant is severely impaired during anaerobic growth with glycerol plus either fumarate, malate or aspartate, whereas single mutants are either unaffected or less affected, depending on the C4-dicarboxylate (PubMed:8131924, PubMed:7961398). The triple mutant dcuA-dcuB-dcuC is completely devoid of C4-dicarboxylate transport (exchange and uptake) during anaerobic growth, and the bacteria are no longer capable of growth by fumarate respiration (PubMed:8955408). Deletion or inactivation of the gene causes constitutive expression of DcuS/DcuR-regulated genes in the absence of C4-dicarboxylates (PubMed:18957436)
No obvious phenotype
Leads to an inability to detect L-canavanine
Synthetic lethal with MSS4
Leads to delayed autophagic degradation of peroxisomes in the appressoria (PubMed:19363139)
Plants are characterized by a recessive embryo-lethal phenotype
Decreases the number of ER-mitochondria encounter structure (ERMES) foci in cells (PubMed:33483504). Abnormal mitochondrial organization within cells, manifesting as fragmented or aggregated mitochondria, spherical mitochondria, or absence of mitochondria (PubMed:33483504). Decreases the level of phosphatidylethanolamine (PE) in cells (PubMed:33483504). Decreases growth on glucose (fermentable) and glycerol (non-fermentable) carbon sources (PubMed:33483504). Simultaneous disruption of ept1, psd2 or psd3 leads to decreased growth on glucose carbon source (PubMed:33483504)
Cells lacking this gene exhibit a lack of cytochromes c but normal contents of cytochrome a and b. Can sporulate
Reduction by 30% of the rate of growth on starch
Significant decrease in RHOA activation in brain extracts
Disruption of the fitAB operon leads to faster transepithelial cell trafficking of the bacterium; mutants adhere to and invade cells normally. Mutants grow normally in liquid culture but much faster within human cell lines A431 and T84; these latter 2 phenotypes were observed using MS11A bacteria with a disrupted fitAB locus
In a minCDE operon disruption (minC-minD-minE), cells divide not only at midpoint but also at their poles, yielding small minicells and long rods. Loss of polar localization of several polar-localized proteins including GroEL-GroES, TnaA and YqjD
Produces partial defects in sexual reproduction and suppresses an apsA deletion mutation. Changes the colony morphology and inhibits sexual spore formation
Mutants show no growth on trehalose as the sole carbon and energy source, but grow normally on glucose. They secrete substantial amounts of trehalose during growth on glycerol
Single and myb118 myb115 double mutants do not show apparent developmental abnormalities (PubMed:18695688, PubMed:25194028). Reduced omega-7 fatty acids accumulation in the endosperm. The endosperm oil of double mutant myb115 myb118 lacks omega-7 fatty acids (PubMed:27681170). Endosperm-specific derepression of maturation-related genes associated with a partial relocation of storage compounds from the embryo to the endosperm (PubMed:25194028)
Disruption of this gene is only possible in the presence of a plasmid-encoded copy of the gene. Curing of this 'rescue' plasmid from the bacterial population results in a cessation of growth, demonstrating gene essentiality
Msl2 and msl3 double mutant shows abnormalities in the size and shape of plastids with enlarged chloroplasts containing multiple FtsZ rings
Pale green leaves phenotype and delayed flowering (PubMed:16617119). Decreased number of chloroplasts and heterogeneity in size in mature mesophyll cells (PubMed:16617119, PubMed:23963675). Abnormalities in chloroplast and thylakoid morphology, including disorganized grana stacks and alterations in the relative proportions of grana and stroma thylakoids (PubMed:16617119). Lesion mimic phenotype with activation of defense response markers in the ecotype Landsberg erecta (PubMed:23963675)
Decreased lipid synthesis in the lactating mammary gland. Milk has reduced triglyceride content, causing reduced weight gain in nursing pups. Adults exhibit reduced body fat content. No effect on lipid synthesis in liver. No effect on the expression of thyroid hormone-induced lipogenic genes
Normal arbuscular mycorrhizal (AM) symbiosis with AM fungi (PubMed:25841038). Plants missing both PT4 and PT8 fail to establish AM symbiosis with AM fungi in high nitrogen conditions, leading to premature arbuscule degeneration (PAD); these phenotypes are suppressed in nitrogen-deprived conditions in an AMT2-3-dependent manner (PubMed:25841038)
Insertion mutant lacks any hydrogenase activity in symbiosis with peas, but is still able to synthesize the polypeptide for the hydrogenase large subunit
Cells lacking this gene are auxotrophic for thiamine. The mutants thiamine requirement can be overcome by adding thiazole moiety 4-methyl-5-(beta-hydroxyethyl)thiazole (THZ) to the growth medium
Accelerated leaf senescence and increased pathogen damages
Conditional knockout embryos are characterized by a smaller size and holoprosencephaly at 10.5 dpc, shortening of limbs at 13.5 dpc, and severe short-limb dwarfism at birth. They die soon after birth. Testicular development is significantly impaired in XY embryos by 12.5 dpc. There is a massive reduction in testis size, a reduction in the number of testis cords which are irregular in shape and diameter, and an almost complete absence of Leydig cells (PubMed:24784881)
Embryonic lethal. Homozygous null embryos show a range of abnormalities, including edema, hemorrhage, exencephaly, preaxial polydactyly, decreased size of the mid- and hindbrains, microphthalmia, thin myocardium, and cardiac septal defects. These phenotypes are variable among mutant embryos; there is evidence of incomplete penetrance, but most embryos show clear phenotypic abnormalities
RNAi-mediated knockdown decreases lifespan in wild type worms with an intact germline (PubMed:20555324). Results in extended lifespan when egg production is inhibited by the addition of floxuridine (FUDR) or in a glp-1 mutant background which lacks a germline (PubMed:22212395, PubMed:20555324)
Conditional knockout mice Mpp3 in retina develop late onset retinal degeneration, with sporadic foci of rosette formation in the central part of the retina which is accelerated by exposure to moderate levels of white light (PubMed:23893895). Conditional knockout mice Mpp3 during cortical development result in a gradual loss of the apical complex proteins and a disruption of adherens junctions (PubMed:23658188)
Cells lacking this gene show no noteworthy improvement of beta-toxoid secretion
Abolishes sym-norspermidine and spermidine accumulation and results in substantially increased accumulation of diaminopropane, whereas putrescine levels remain unaffected. Disappearance of norspermidine and accumulation of carboxynorspermidine. 50-60% reduction in growth rate of planktonic cells and severely reduced biofilm formation, which can be rescued by exogenously supplied sym-norspermidine but not spermidine. Not required for colonizing the small intestine in infant mouse model of infection
Disruption of the gene results in a large decrease in ribose 1,5-bisphosphate generation from adenosine
Cells lacking both nicA and nicB lack the ability to hydroxylate nicotinate. Cells do not grow in a nicotinate medium but grow in a 6-hydroxynicotinate medium
IDH3A-null homozygous mice do not survive early embryogenesis (PubMed:30478029). Compound heterozygous mice for the IDH3A-null allele and mutant p.E229K are viable and exhibit rapid retinal degeneration (PubMed:30478029)
Reduction of olfactory cilia formation
Abolishes the production of sesterterpenoid
Led to early embryonic lethality. Show disorganized germinal layers without the formation of a proamniotic cavity. Many of the surviving cells were trophoblastic giant cells with large nuclei
Impairs the production of ustiloxin B and its intermediate ustiloxin F (PubMed:24841822, PubMed:26703898)
When mntA-hepT is deleted, has a sight reduction in swimming motility. No effect when just this gene is deleted
Cells lacking this gene are unable to grow on methanol but exhibit wild-type growth on succinate. In addition, mutant is shown to be formaldehyde sensitive
Reduced seed size and early endosperm cellularization
Cells lacking this gene grow normally on putrescine, cadaverine, and GABA, but growth on beta-alanine is completely abolished
Increased stomatal pore opening (PubMed:16005292). Reduced amount of seed mucilage (PubMed:19401413). Early germination, slow growth, delayed flowering and senescence (PubMed:22708996)
No visible phenotype under normal growth conditions, but mutant plants exhibit increased abscisic acid (ABA) sensitivity and drought resistance
Cells lacking this gene together with metB1, msrA and msrB are unable to use Met-S-SO for growth but retain the ability to use the enantiomer Met-R-SO, while a metB1/msrA/msrB deletion mutant is able to use both compounds
Impairs the production of glandicoline B and meleagrin (PubMed:23776469)
Cells are about 2-fold more sensitive to tetracycline and doxycycline, but remain sensitive to tigecycline, a broad spectrum glycylcycline antibiotic
Alanine:glyoxylate aminotransferase activity is reduced by 98% relative to wild-type
Deletion of the gene abolishes growth on glucose, but does not affect growth on galactose. Double deletion mutant kdgK1/kdgK2 loses the ability to grow on galactose
Shows reduced levels of Agrobacterium-mediated root transformation
Increased sensitivity to growth inhibition by abscisic acid (ABA) (PubMed:26404089). Altered transcript accumulation profiles due to impaired pre-messenger RNA (pre-mRNA) splicing (e.g. HAB1 transcripts alternative splicing) (PubMed:26404089, PubMed:28971960). These phenotypes are partially suppressed by an ectopic expression of HAB1 (PubMed:26404089)
No effect on virulence in male BALB/c mice
No visible phenotype. Mice are viable and fertile. T-cell and B-cell development are normal. T cell receptor signaling and activation induced cell death appear normal. Small reduction of CD4 single positive thymocytes
Causes hypersensitivity to cadmium, 4-nitroquinoline N-oxide, 1,10-phenanthroline, and hydrogen peroxide. Abolishes the peroxide-mediated induction of COR33, TSA1, and many other genes involved in oxidative stress response. Inhibits trehalose accumulation upon exposure to oxidative stress. Shows significantly reduced viability when exposed to whole blood or polymorphonuclear cells, as well as to the Chinese herbal medicine baicalein. Leads also to decreased virulence in a Caenorhabditis elegans model. Increases apoptosis upon apoptotic stimulation
Impairs the production of terrein (PubMed:24816227)
Cells lacking this gene lose the ability to utilize pyrimidine nucleosides and bases as the sole source of nitrogen at room temperature
Reduced (30-40% of wild type) level of dopamine thought to be due to defects in dopamine synthesis. Defects in serotonin signaling. Affects mechanosensory behavior including foraging and exploration activity. Hypersensitivity to odorants. Blocks the enhanced slowing response phenotype caused by bilobalide, a neuroprotective plant chemical. No significant effect on lifespan
RNAi-mediated knockdown reduces the survival incidence, results in increased bacterial load and reduces ROS production following infection by P.aeruginosa (PubMed:27974198). RNAi-mediated knockdown inhibits the nuclear accumulation of the transcription factor skn-1 and reduces the expression of skn-1 transcriptional targets including gst-4 following infection by P.aeruginosa (PubMed:27974198). RNAi-mediated knockdown suppresses the pro-survival effects of the addition of exogenous proline following infection by P.aeruginosa (PubMed:27974198)
Deletion of the probable mamGFDC operon leads to a slight reduction in magnetic response and slightly narrower magnetite crystals
RNAi-mediated knockdown prevents neuronal degeneration in a mec-4(u231), deg-1(u38) or gsa-1 gain-of-function mutant background
Retarded growth and reduced pyrophosphate--fructose 6-phosphate 1-phosphotransferase (PFP) activity
Mice lacking Adgrf1 show no visible phenotype
Reduced levels of phosphatidylinositol. No effect on two-cell stage nuclear morphology. Significant rescue of the nuclear morphology defects resulting from inhibition of cnep-1 or partial inhibition of lpin-1 but does not rescue the nuclear envelope disassembly defects observed following depletion of npp-12
Mice show a gradual loss of the germ cell population within a few cycles of spermatogenesis which is caused by the depletion of spermatogonial stem cells that produce differentiating spermatogenic cells
Larval neuroblasts exhibit significant genome instability, including increased aneuploidy, chromosome fusions and satellite repeats
Lack of the shoot apical meristem (SAM) in the embryo, but formation of radicle and scutellum. In weak alleles, formation of an incomplete SAM and abnormal leaves production
No obvious phenotype except defective lytic vacuoles with altered morphology and accumulation of proteins
Completely abolishes the production of peniphenone D, penilactone D, penilactone A and penilactone B, as well as of crustosic acid and terrestric acid
Mutant lacking this gene is unable to reduce 4-vinylphenol to 4-ethylphenol, while its ability to reduce hydroxycinnamic acid is not affected
RNAi-mediated knockdown results in abnormal cilia morphology with the formation of 'wing-shaped' cilia structures and additional dendritic ciliated endings in amphid wing B (AWB) olfactory amphid neurons
Deletion of this gene causes hypersensitivity to tellurite, altered population dynamics during long term batch culture, and, most strikingly, dramatic alteration of normal cell morphology
Conditional knockout mice lacking both Rnf43 and Znrf3 in intestine show a marked expansion of the proliferative compartment, resembling the effects of acute deletion of Apc
Fishes lacking both tmem237a and tmem237b display defects in midsomitic embryos, including shortening of the anterior-posterior axis and small anterior structures, kinking of the notochord, and broadening and thinning of the somite
Knockout causes reduction in adult lifespan (PubMed:29748542). Upon infection by P.aeruginosa or E.faecalis, RNAi-mediated knockdown results in a decrease in survival rate and in a reduced up-regulation of gst-4 and gcs-1 expression (PubMed:12142542, PubMed:22216003). Causes a severe reduction in rnt-1 accumulation in the intestine during oxidative stress mediated by paraquat (PubMed:22308034). Upon exposure to C.cinerea galectin Cgl2, adults show reduced survival and larvae do not develop (PubMed:20062796). Larval development is partially restored in a bre-1, fut-8, gly-13, galt-1 or ger-1 mutant background (PubMed:20062796)
Homozygous knockout mice are viable, fertile and do not display overt phenotype (PubMed:12883552). Slight perturbations of the cellular composition of secondary lymphoid organs with a slight decrease of mature T cells is observed (PubMed:12883552). Upon TCR activation the normal conversion of diacylglycerol into phosphatidic acid that negatively regulates TCR signaling is partially impaired (PubMed:12883552). Hyper proliferation of T-cells and the ability to mount a more vigorous and effective T-cell response against pathogens indicate a more profound T-cell activation in these mice (PubMed:12883552)
Cells lacking this gene display impaired growth
Leads to the accumulation of versicolorin A (PubMed:16332900)
Homozygous pups are born at about 60 % of the expected Mendelian rate, indicating decreased intrauterine survival. Mutant mice are smaller in size than wild-type littermates, show decreased motor activity, are completely deaf after 12 months and their lifespan is decreased relative to that of wild-type littermates. Both female and male mutant mice are completely infertile due to defects in germ cell development
No visible phenotype under normal growth conditions, but mutant plants have decreased sensitivity to abscisic acid (ABA) and reduced tolerance to drought stress
Moderately dwarfed plants with small organs composed of small-sized cells (PubMed:19679120). Higher density of developmentally delayed stomata (PubMed:19679120). Hypersensitivity to DNA-damaging reagents such as hydroxyurea, methylmethane sulfonate, and bleocin (PubMed:19679120). Differential expression of several genes (PubMed:31418686). The double mutant ref6-1 arp5-1 is insensitive to ethylene (ET) and exhibits reduced levels of EIN2 associated with a shift of the chromatin landscape to a repressive state at its locus (e.g. H3K27me3 and H2A.Z) (PubMed:31418686)
Ciliary phenotypes such as pericardial effusion, hydrocephalic brain, curved or kinked tail, gastrulation defects and other severe defects in left/right axis
Abnormal capsular morphology: lower fiber density, abnormal fiber distribution, decreases capsular diameter (PubMed:32743128). Decreases extracellular vesicle secretion (PubMed:32743128). Sensitive to high temperature (PubMed:16278457)
Deletion leads to a loss of TseL secretion and in turn loss of its ability to mediate prey cell killing
Bright green glossy stems and siliques due to reduced cuticular wax accumulation
Mice display scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive photoreceptor degeneration. In single rods defective cells photosensitivity is reduced. Rp1 and Rp1l1 double heterozygotes exhibits abnormal outer segment morphology and reduced single rod photosensitivity and dark currents, while individual heterozygotes are normal
Loss of resistance to the bacteriocin sublancin 168
Impaired food-finding behaviors due to defects in sensory perception of smell. Decreased number of olfactory bulb synapses in the external plexiform layer, but not the glomerular layer, of the olfactory bulb. The size and dendritic arborization of olfactory bulb neurons are decreased, but not the synapse density per dendritic length. Defects are due to impaired exocytosis of IGF1 in neurons of the olfactory bulb
Leads to the loss of intermediates such as confertifolin
Co-suppression of menthofuran synthase leads to a decrease of pulegone level and an increase of piperitone and piperitenone levels due to an increased pulegone reductase activity
Mice lacking Taar2, Taar3, Taar4, Taar5, Taar6, Taar7a, Taar7b, Taar7d, Taar7e, Taar7f, Taar8a, Taar8b, Taar8c and Taar9 show no visible phenotype or behavioral deficits. They however show an absence of aversion to low concentrations of amines such as 2-phenylethylamine, isopentylamine, N-methylpiperidine and cadaverine
Lethal at perinatal stages. Fetuses are viable up to 18 dpc, but after this survival decreases rapidly. Fewer that 10% of mutant pups are born live, and these die within hours after birth. Mutant fetuses display much higher than normal levels of adenosine and dATP, respiratory distress, hepatocellular degeneration and necrosis. Prenatal lethality can be avoided using an ADA expression vector with a trophoblast-specific promoter. Mutant mice die after about three weeks due to immunodeficiency, disturbances in purine metabolism and severe lung inflammation
Upon hypo-osmotic shock, the viability of the cells is not significantly different from that of wild-type, but an increase in cell volume is accompanied by an abnormally high increase in intracellular calcium concentration compared to wild-type
Mutants grow normally. They show an impaired sensorimotor gating with no effect on motor activity and coordination
Embryonic death. Embryos are arrested at the blastocyst stage: the primitive endoderm and epiblast cannot be distinguished and appear as cell clumps resembling the inner cell mass (ICM) of the blastocyst. Embryos do not develop an epiblast epithelium and the uterine reaction appears to be incomplete. Development of the primitive endoderm and a basement membrane derived from it are severely affected in embryos at 4.5 dpc
In one study knockout mice are viable and born at the expected Mendelian rate (PubMed:20505138). In another study the majority of knockout mice die after birth, those that survive show severe lamination defects and loss of cellular organization in their olfactory bulb, with a reduction in gonadotropin-releasing hormone in the preoptic region of the hypothalamus (PubMed:20881139). Mice that die at birth are morphologically normal apart from a marked reduction in the size of the olfactory bulb, which exhibits abnormal cellular organization in the outer layers and a lack of innervation of OSNs (PubMed:20881139). At dpc 16.5 OSNs fail to extend into the marginal zone of the forming olfactory bulb from the basement membrane, and show a reduction in tyrosine phosphorylated BCAR1 (PubMed:20881139). Decrease in B cells in the splenic marginal zone (PubMed:20505138, PubMed:20956287)
Impaired formation of the tetrasaccharide present at 'Asn-532' of S-layer glycoprotein Csg. The complete tetrasaccharide is formed but does not make it to the S-layer glycoprotein Csg. No effect on 'Asn-47' and 'Asn-117' glycosylation of S-layer glycoprotein Csg
Age-dependent pathologies, characterized by accelerated aging in the retina similar to macular degeneration of the retina (PubMed:27863209). Retina show higher sensitivity to oxidative stress (PubMed:27863209). Defects are caused by impaired balance between mitochondrial fusion and fission (PubMed:27863209)
Pale green and unable to grow photoautotrophically on soil
Loss of about 25% of PSII activity, cells are slightly more photosensitive (PubMed:8544827, PubMed:17921338). Altered assembly of PSII, with destabilized binding of CP43 (psbC) (PubMed:17921338)
No visible phenotype at birth. Mice have lower blood glucose and pyruvate levels after overnight fasting than normal, while the levels of ketone bodies are increased. After 48 h starving, their rate of glucose oxidation is increased, and glycolysis decreased, compared to wild type mice. Likewise, their rate of fatty acid oxidation is lower than normal in response to starvation. In contrast, there are no differences in blood glucose levels between fed mutant and wild type mice. In response to a high-fat diet, mutant mice have lower de novo fatty acid biosynthesis, and lower liver steatosis than wild-type. Mutant mice show normal bone formation and normal bone metabolism, excepting reduced bone loss when suspended to induce disuse osteoporosis
Mice are defective in both excitatory and inhibitory synapse development (PubMed:24094106). Mice also show reduced body mass and increased energy expenditure (PubMed:32382066). Mice also display reduced marrow volume and cortical bone mass without alteration of trabecular bone microarchitecture (PubMed:32382066). Conditional deletion in neurons leads to a significant reduction in number of excitatory synaptic inputs (PubMed:32434929). Conditional deletion in the cerebellum causes major impairments in motor learning due to a large decrease in inhibitory synapse, associated with a robust increase in excitatory parallel-fiber synapses in Purkinje cells (PubMed:35420982). As a result, inhibitory synaptic transmission is suppressed, whereas parallel-fiber synaptic transmission is enhanced in Purkinje cells (PubMed:35420982). No changes in the dendritic architecture of Purkinje cells or in climbing-fiber synapses is observed (PubMed:35420982). Mice lacking Clstn1, Clstn2 and Clstn3 display behavior disorders, characterized by hyperactivity in normal environment, hypersensitivity to stress, and show tendency to freeze in novel environments (PubMed:35279170)
Mice are defective in energy expenditure and adaptive thermogenesis: mutant mice are hypothermic at a faster rate than controls during acute cold challenge (PubMed:31043739, PubMed:36477540). Mice show larger and paler brown adipose tissue and display abnormal lipid droplet forms (PubMed:36477540)
Lack of methylation of cytosine at position 1942 (m5C1942) of 23S rRNA
Deletion is lethal. Depletion results in the accumulation of incorrectly assembled outer membrane proteins, including TolC, OmpF, OmpC and OmpA (PubMed:15851030, PubMed:16102012). Decreased expression leads to decreased susceptibility to contact-dependent growth inhibition (CDI), and decreased expression of outer membrane proteins (including in this study LamB) as well as up-regulation of periplasmic protease DegP (PubMed:18761695, PubMed:23469034)
Reduced sensitivity to carnitine and high degree of root branching
The SLC9A6 null mice show a 10-20% increased mortality after birth, yet the surviving mice do not display any obvious difference. Behavioral tests reveal a modest motor hyperactivity associated with coordination deficits and limited ataxia. Neurons from these deficient mice exhibit endosomal hyperacidification, as well as impoverished neuronal arborization and attendant circuit dysfunction
Disrupts iron-sulfur (Fe-S) cluster assembly (PubMed:31040179). Normal cytosolic tRNA thiolation (PubMed:31040179)
No visible phenotype (PubMed:20668060, PubMed:23695980). Suppresses the cell death and defense responses not only in mkk1 mkk2 but also in mekk1 and mpk4 mutants (PubMed:22643122, PubMed:23695980). In the triple mutant mekk1 mekk2 mekk3, no apparent phenotype, but meek1-like dwarf phenotype when complemented by MEKK2 (PubMed:23695980). The triple mutant mekk1 mekk2 mekk3 is almost insensitive to external glutamate (L-Glu) on root growth (PubMed:23574009)
Conditional knockout in endothelial cells results in abnormal myocardial compaction, insufficient systolic contraction, and enlarged hearts relative to body weight (PubMed:30446855). Conditional knockout in endothelial cells also results in dilated glomerular vessels and maturation defects in glomerular endothelial cells but kidney function is not impacted (PubMed:29397483)
knockout mice are fertile, but male animals that lack all three receptors TYRO3, AXL and MERTK produce no mature sperm
Lethal at the young adult stage due to a ruptured vulva (PubMed:25753661). RNAi-mediated knockdown causes a partial reduction in the number of hatched embryos (PubMed:25753661). RNAi-mediated knockdown in a usip-1 (tm1897) mutant background causes complete embryonic lethality (PubMed:25753661)
Meristem identity phenotype; increased number of cauline leaves and secondary inflorescences
Defects in fatty acid oxidation results in a significant increase in the medium-chain acylcarnitines C6, C8, and C10, which is further elevated under starvation conditions
Seedling lethal when homozygous, has pale cotyledons but never develops true leaves. On sucrose-supplemented medium PSII is completely inactive; D1, D2 CP43 and CP47 are present in very low amounts
Leads to lethality
Does not affect the localization of SigE
Mice have dry skin with reduced SC (stratum corneum) hydration, decreased elasticity and impaired biosynthesis. The glycerol content of SC and epidermis is reduced, whereas that of dermis and serum is normal. The dry, relatively inelastic skin is probably related to the humectant properties of glycerol, and the impaired SC repair to impaired epidermal biosynthetic function
Deletion of the gene does not affect significantly the cellular polyP content
Gonadal migration defects with premature dorsal turning of distal tip cells in the hermaphrodite gonad (PubMed:24613396, PubMed:24968003). Defective dauer formation, shortened lifespan and retarded terminal differentiation of seam cells with incomplete adult alae synthesis (PubMed:24613396). Suppresses the precocious seam cell terminal differentiation and gonadal migration defects seen in dre-1 mutants (PubMed:24613396). Weak dumpy phenotype and partially penetrant embryonic lethality (PubMed:24968003). Reduced expression of the transcription factor bed-3 which is involved in vulval development and failed division of vulval precursor cell descendents (PubMed:26234645). RNAi-mediated knockdown impairs the expression of several hypodermis-specific genes; reduces levels of clo-124 mRNA and increases levels of lin-29 mRNA (PubMed:32417234). RNAi-mediated knockdown results in the precocious onset of tail tip retraction resulting in over-retracted and shortened adult male tails (also known as the Ore phenotype) (PubMed:21408209)
Mutant is still able to take up isoleucine, leucine and valine (PubMed:25645558). Deletion of the gene confers a weak resistance to growth inhibition by serine (PubMed:32743959). The deletion of the three permease-encoding genes aimA (ybeC), ybxG and bcaP results in an unprecedented resistance to serine up to 100 mM (PubMed:32743959)
No visible phenotype under normal growth conditions, but mutant seeds are insensitive to germination inhibition by abscisic acid (ABA)
Exhibits less than 1% of the wild-type activity towards xanthine and hypoxanthine under inducible conditions (2.5 mmol/l adenine). No activity after cultivation without inducer
Mice have unimpaired bile secretion, and no liver damage, but show mild abnormalities including depressed weight at weaning and elevated serum bile salt levels. Do not suffer from jaundice or diarrhea and have normal serum bilirubin levels and normal liver enzyme activities, except for mildly elevated serum AST (aspartate aminotransferase) activity. Display unimpaired transhepatic bile salt transport and are resistant to bile salt-induced cholestasis. Upon bile salt feeding, demonstrate serum bile salt accumulation, hepatic injury and expansion of the systemic bile salt pool and this failure of bile salt homeostasis occurs in the absence of any defect in hepatic bile secretion (PubMed:14976163). Mutant mice with B6 background show greater abnormalities than 129 and/or F1 background ones. Pups of B6 background gain less weight. In adult B6 background has lower serum cholesterol levels, higher serum alkaline phosphatase levels, and larger livers. After challenge with cholate-supplemented diet, these mice exhibit higher serum alkaline phosphatase and bilirubin levels, greater weight loss and larger livers (PubMed:20126555)
Cells lacking this gene grow similarly to wild-type in the presence of either DMSO or oxygen as the terminal electron acceptor; thus, SAMP3 is not needed for DMSO respiration, suggesting that it is not required for molybdenum cofactor (MoCo) biosynthesis. tRNA thiolation is not affected
Male sterile and female semi-sterile phenotypes. In males, spermatogenesis is arrested at the elongating stage of the developing spermatids, resulting in an absence of mature sperms in the seminal vesicles. The decreased fertility in females is mostly due to defects in oogenesis. There are abnormal egg chambers present in the mutant females, in which the cystocytes fail to arrest their cell division at the fourth mitotic cycle, resulting in more than 16 cells in a single egg chamber. Additionally, these abnormal cystocytes do not undergo multiple rounds of endoreplication as the nurse cells do in a normal egg chamber
Abolishes the production of ochratoxin A as well as of its intermediates ochratoxin B and ochratoxin beta
Mutant mice appear grossly normal (PubMed:8987814). Mossy fiber granule cells from mutant mice present a decrease of the slow component of the excitatory postsynaptic current (PubMed:8987814). Pyramidal neurons in the prefrontal cortex display a reduced dendritic spine density (PubMed:27922130). Besides, the prefrontal cortex has an altered pattern of excitatory and inhibitory synapses (PubMed:27922130). Pyramidal neurons in the prefrontal cortex display a reduced frequency of miniature excitatory postsynaptic currents (mEPSC), together with an increased frequency of miniature inhibitory postsynaptic currents (mIPSC), indicative of a shift in the balance between excitatory and inhibitory membrane currents (PubMed:27922130). The slow component of the excitatory postsynaptic current is nearly abolished in mossy fiber cells from mice lacking both Grin2a and Grin2c (PubMed:8987814). Mice lacking both Grin2a and Grin2c display subtle motor deficits; they have no visible phenotype when performing simple tasks, but have decreased ability to walk across a narrow wooden bar, and are unable to stay on a rapidly rotating rod (PubMed:8987814)
Pollen grains of the double mutant abcg9 abcg31 shrivel up and collapse upon exposure to dry air, and exhibit an immature coat containing reduced levels of steryl glycosides, thus leading to a low viability (PubMed:24474628). Defective in sterol (e.g. 24-methylene cholesterol) composition (PubMed:24112720). Vascular patterning defects in cotyledons and the floral stem, with a stronger phenotype in plant missing also ABCG11 and ABCG14 (PubMed:24112720)
Cells do not express urease
During axis elongation in the embryo decreases localization to adherens junctions and planar polarization for both Rho-kinase Rok and myosin regulatory light chain sqh (PubMed:24535826). The mislocalization of sqh impairs the generation of sustained actomyosin contractility during cell rearrangement and can account for the reduction in the formation of multicellular rosette and convergent extension (PubMed:24535826). RNAi-mediated knockdown in the embryo decreases Rho-kinase Rok localization to adherens junctions and planar polarization during axis elongation (PubMed:24535826). Has no effect on Rho1 localization or activity (PubMed:24535826). Isoform D: RNAi-mediated knockdown in the embryo, ecreases localization to adherens junctions and planar polarization for both Rho-kinase Rok and myosin regulatory light chain sqh (PubMed:24535826)
No magnetic response, no magnetosomes, no iron crystals of any sort. MamC is mislocalized in punctate spots throughout the cell (PubMed:24816605). Magnetosome vesicles are fewer and smaller, sometimes align in a chain with the filament, only a few have very small crystals. Many other, possibly precursor magnetosome vesicles, are visible, some are attached to the cell inner membrane. MamI mislocalized to 1 to a few patches in most cells (PubMed:27286560). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Delayed flowering phenotype under long day conditions
Mutants are viable and fertile with no gross morphological or locomotor defects
RNAi-mediated knockdown in the procyclic form causes growth arrest (PubMed:19465686). Moderately increases the abundance of mitochondrial RNAs without causing defects in RNA editing (PubMed:19465686)
Increased number and density of lateral roots and decreased thickness of seminal roots
Deletion mutant is unable to produce ornithine lipids. Mutant promotes earlier tumor formation on the plant host
Mice display mid-gestation lethality associated with a severe developmental defect of the embryo and trophoblast. Primary embryonic fibroblasts isolated from mutant 9.5 dpc embryos show deficient mitochondrial synthesis and a global defect of oxidative phosphorylation
Exhibits reduced silencing and a corresponding decrease in the level of SIR4 (PubMed:10490600). Reduces also the level of the low-affinity, high-capacity transporter of amino acids GAP1 (PubMed:11352638). Leads to alterations in expression of subtelomeric genes together with a broad change in the whole transcriptional profile, closely parallel to that induced by oxidative stress (PubMed:14623890). Results also in extrachromosomal rDNA circles (ERCs) accumulation (PubMed:17028327). Accumulates also mono- and di-ubiquitinated PCNA/POL30 in response to DNA damage and replicative stress (PubMed:22829782). Leads to reduced pre-rRNAs, mature rRNAs, and translating ribosomes (PubMed:22902402)
RNAi-mediated knockdown reduces lifespan and is further reduced on a daf-2 mutant background (PubMed:24699255). RNAi-mediated knockdown causes premature onset of polyglutamine-mediated paralysis (PubMed:24699255). RNAi-mediated knockdown reduces spore levels of the microsporidian pathogen N.parisii during infection, further reduced on an mdl-1 mutant background (PubMed:27402359)
Embryonic lethality by 12.5 dpc caused by severe growth retardation (PubMed:27476491, PubMed:29415125). Conditional deletion in adults is also lethal (PubMed:29415125)
Mice lacking both Syngr1 and Syp show normal brain structure and composition, but impaired short-term and long-term synaptic plasticity
RNAi-mediated knockdown at the L1 or L4 larval stages or in the egg-laying apparatus causes a reduction in egg-laying due to a defect in the egg-laying apparatus muscles
Cells grow better in the presence of the bile acid deoxycholate. Increased membrane stability when incubated for 2 hours in the presence of 4.5% deoxycholate. Increased cell survival in the presence of 20% deoxycholate
Mice exhibit disrupted locomotor rhythms, reduced locomotor activity, enhanced phase shifts and an increased rate of entrainment when subjected to a large delay of the photoschedule. Show a reduction in lipid storage in the liver and white adipose tissue
Retarded growth and development, and early flowering. Reduced responses to ethylene and cytokinin
Worms exhibit resistance to the Cry5B toxin produced by Bacillus thuringiensis. This is thought to be due to mutants having reduced population of glycolipids which are targeted by the Cry5B protein
Decreases synthesis of monacolin K (PubMed:19368389)
No visible phenotype, due to the redundancy with WOX9 (PubMed:17706632). Wox8 and wox9 double mutants are embryo lethal, with embryos disrupted as early as the first cell division in the embryo proper (PubMed:17706632)
Severe growth defect in shoot elongation. Severe growth defect of flowering stem
Moderate reduction in growth rate at 37 degrees Celsius, reduced bacterial density in stationary phase (in strain LO28); no change in bacterial adherence to Caco-2 cells (PubMed:11700342). 2-fold reduction virulence in mice (PubMed:15661014). Does not impair iron transport (PubMed:15661014, PubMed:16430693). More sensitive measurements show that disruption decreases hemin uptake at low concentrations (0.5 uM and 5 uM; at 50 uM no effect is seen) (PubMed:21545655). Decreased hemin-binding and hemin uptake by whole bacteria at low concentrations of iron (PubMed:21545655)
No effect of a single gene deletion on growth at pH 7.0 nor of whole-operon deletion on growth at pH 4.6, 5.5 or 7.2. No effect of whole-operon deletion on growth in macrophages. Loss of expression of ArfA
Homozygous knockout mice for FUT2 are fertiles and develop normally and exhibit no gross phenotypic abnormalities
Male and female mutants are sterile due to severe blockage of spermatogenesis and oogenesis
Cells lacking this gene have no defect in lipoteichoic acid or wall teichoic acid synthesis
Early proliferation of lateral roots as well as distorted root hairs when cultivated at high sucrose concentrations
Embryos have a reduced hatch rate and develop into adults with reduced survival (PubMed:29746464). During mid-blastula transition in embryos, S phase 14 is significantly shorter (PubMed:29746464). In larval salivary glands, loss of DNA underreplication resulting in abnormally enlarged chromocenters (PubMed:30277458). RNAi-mediated knockdown results in lethality (PubMed:26022086). Escaper flies only live for a few days and are infertile (PubMed:26022086). Females show increased necrotic spots in the abdominal segments (PubMed:26022086). RNAi-mediated knockdown in the imaginal disks does not affect viability (PubMed:26022086)
Mutants appear normal at 20 degrees Celsius but have Daf-c phenotypes (formation of dauer larvae at low population density in the presence of abundant food) at 27 degrees Celsius
Mice survive to adulthood, but have a tortuous aorta with loss of compliance, severe emphisema and loose skin. They exhibit a severely disorganized elastic fiber system throughout the body
Mutants have a reduced size and a loss of both motility and fertility. In addition the pharynx and the intestine appear to float within the pseudocoelom resulting from the accumulation of fluid. The majority die during larval development with hypodermal ruptures. Simultaneous knockdown of clr-1 and egl-15 rescues the thin body morphology of egl-15 mutants
Resistant to canavanine
Male TRIM69-knockout mice have normal fertility. Appearance of testes, testis/body weight ratios, testicular histomorphology, and the number and quality of sperm are consistent with wild-type mice
Mice are normal but males are sterile. Male sterility is due to defects in sperm motility unability to fertilize intact eggs
Increased levels of lateral root branching
RNAi-mediated knockdown in AWC sensory neurons results in reduced octopamine inhibition of the aversive response to 100% 1-octanol
Mice die within 3 to 5 hours after birth due to defective skin barrier function loosing around 30% of body weight within 3 hours. Dehydration through the skin is increased 8 folds. The outside-in barrier acquisition is also affected, the skin remaining permeable at 18.5 dpc while it is impermeable in wild-type mice. The stratum corneum is more tightly packed while other layers are unaffected. Processing of filaggrin/FG is aberrant and the skin displays structural abnormalities. The cornified envelope is more fragile and the ceramide composition of the epidermis is altered
ABA-insensitive and drought stress-semsitive. Late flowering
Null mice exhibit reduced apoptosis of in sympathetic neurons. However, the sympathoadrenal system appears hypofunctional with reduced target tissue innervation, adrenal medullary secretory capacity, sympathoadrenal responses, and systemic blood pressure. There is an increase in ADRB2 abundance and decrease of ADRB1 abundance in heart
RNAi-mediated knockdown results in larval lethality. RNAi-mediated knockdown in the germline results in 100% sterility at 25 degrees Celsius
Not required for motility, disruption leads to derepression of the adhesive curli fimbriae genes
Slight increase of primary root elongation and lateral root branching and hypersensitivity of root growth in response to exogenous auxin
Cells lacking this gene cannot grow on Neu5,9Ac2 as the sole carbon source, in contrast to wild-type, but grow as well as wild-type on glycerol or on N-acetylneuraminate (Neu5Ac)
The pctABC-tlpQ deletion mutant is devoid of histamine chemotaxis over the entire concentration range (50 nM to 50 mM) (PubMed:30425146). Deletion of the gene significantly reduces chemotaxis to AI-2 (PubMed:33097715)
Mice are viable and fertile, but display impaired blood coagulation, due to defects in platelet aggregation and thrombus formation
Mutant mice are born at the expected Mendelian rate, but up to 80% of the pups die within 48 h after birth. Survival is improved by paring down the litter size shortly after birth. Mutant mice are initially smaller than wild-type, but achieve normal size within three months. Mutant mice do not display the normal electrophysiological responses to odorants that stimulate production of cAMP or inositoltrisphosphate (IP3). Likewise, behavorial responses to smells are abolished (PubMed:11055432). In spite of normal mating behavior, they do not produce any offspring (PubMed:11055432, PubMed:15705663). Male mice have strongly reduced fertility due to defects in sperm motility, an increased rate of spontaneous acrosome reactions and an impaired ability to penetrate the oocyte zona (PubMed:15705663)
Mice lacking Ucp1 display an absence of adaptive thermogenesis in response to cold. Compared to wild-type mice, they are sensitive to cold and consume less oxygen upon treatment with beta-3-adrenergic-receptor agonists that normally activate thermogenesis (PubMed:9139827, PubMed:19187776). They also display impaired adaptive thermogenesis in response to diet variation (PubMed:19187776). If they display lipid accumulation in adipocytes of brown adipose tissues, no overt obesity is observed when mice are housed under classical conditions, i.e. 18 to 20 degrees Celsius (PubMed:9139827). However, when mice are housed at thermoneutrality, i.e. at 30 degrees Celsius, obesity is clearly observed and exacerbated by high fat diet (PubMed:19187776). The brown adipose tissue of mice lacking Ucp1 produce higher levels of reactive oxygen species (PubMed:20416274, PubMed:20466728)
Impairs the production of acetylaranotin and accumulates chemically stable intermediate cyclo-L-phe-L-phe or shunt products such as 2-hydroxy-2'-ene-cyclo-L-Phe-L-Phe and 2-imino-10'-hydroxy-cyclo-L-Phe-L-Phe (PubMed:23586797)
Deletion abolishes accumulation of ectoine from the medium
Impairs the production of acetylaranotin and accumulates chemically stable intermediates or shunt products such as bisdethiobis(methylthio)-deacetylapoaranotin and bisdethiobis(methylthio)-deactylaranotin (PubMed:23586797, PubMed:30096370). Leads also to the accumulation of deacetylhaematocin and demethyl-deacetylhaematocin when ataS and ataY are also deleted (PubMed:30096370)
Loss of this gene blocks plasmid stabilizing ability
No effect on expression of pathogenicity island 2 (SPI-2) which is usually repressed in culture; derepression of SPI-2 in double hha-ydgT deletions (PubMed:17307861). Double hha-ydgT deletion mutants lead to deregulation of many genes at least 2-fold, most of which are also deregulated in an hns deletion, suggesting there are a large number of hns-regulated genes whose expression is also modulated by Hha and/or YdgT (PubMed:19521501). Upon infection of C57BL/6 mice a single hha mutant has 10-100-fold reduced virulence compared to wild-type, while a double hha-ydgT deletion is 6 orders of magnitude less virulent (PubMed:17307861)
Death between 9.5 and 13.5 dpc from developmental arrest
2,000-fold decrease in transformation efficiency (PubMed:7768823, PubMed:16978360). Cells take up DNA but are defective in a later stage of chromosomal DNA transformation (PubMed:7768823)
Impairs the synthesis of austinol and dehydroaustinol and accumulates the intermediate compound austinolide (PubMed:22329759)
Exhibits a reduction in the synthesis of mannosylated sphingolipids
Mice are viable but show male sterility with chromosome synapsis failure. In fetal testes, LINE-1 (L1) transposable elements derepression and an aberrant piRNA profile in prospermatogonia, followed by cognate DNA demethylation are observed
Strong reduction in seed phytic acid, and strong increase of inorganic phosphate and myo-inositol levels in seeds
No obvious growth defects (PubMed:22242134). Plants lacking eIFiso4E, eIF4E1 and eIF4E2 exhibit a semi-dwarf phenotype (PubMed:22242134)
Elevated ceramide levels and growth arrest; cells were arrested in division but replication of DNA and organelles continued giving rise to cells containing multiple nuclei, kinetoplasts and flagella
No visible phenotype under normal conditions: mice show normal development, growth and reproduction. Fertility and sperm production and motility are not affected in males. Under high-fat diet, mice seem to be protected from deleterious effects, including obesity, liver triglyceride accumulation and insulin resistance (PubMed:17878307). In contrast, the lean phenotype appears only after feeding a high-fat diet: under normal chow diet, body weight, fat composition, oxygen consumption are not distinguishable from wild-type mice (PubMed:17192472). The only difference between these 2 experiments is that mice were backcrossed into C57BL/6 5 times in the first study (PubMed:17878307), while the 10th backcross was used in the second study (PubMed:17192472). Female but not male mice show an increased ventilatory response to acute hypoxia and fail to reach ventilatory acclimatization to chronic hypoxia
Mutants are viable, fertile and without any obvious abnormalities (PubMed:15459201). Mutant mice show reduced SPP levels in serum (PubMed:16314531, PubMed:15459201). Conditional mutants in neurons exhibit a decrease of amyloid-beta phagocytic activity (PubMed:29662056). Double knockout for SPHK1 and SPHK2 causes embryonic lethality (PubMed:16314531). Between 11.5 dpc and 12.5 dpc embryos exhibit cranial hemorrhage and die at 13.5 dpc (PubMed:16314531). At 11.5 dpc the wall of the dorsal aorta is poorly developed and endothelial cells are severely defective in all blood vessels in the mesenchymal region of the head (PubMed:16314531). Double knockout embryos also show a neural tube deffect (PubMed:16314531)
In shaking culture, leads to a higher density, a faster dying after reaching stationary density, and, after starvation, a lower spore viability. However, shows abnormal slow proliferation on bacterial lawns. Leads also to hypersensitivity to the stalk morphogen DIF
Embryonic lethality when homozygous (PubMed:17706632). Reduction in embryonic growth, failure in axillary shoot apical meristem and leaf-primordia initiation and growth, and failure in primary root growth and lateral root initiation when heterozygous (PubMed:15753038, PubMed:17706632). Wox8 and wox9 double mutants are embryo lethal, with embryos disrupted as early as the first cell division in the embryo proper (PubMed:17706632)
Flies lacking this protein, in a wild-type background, display no observable behavioral defects. In a Shaker mutant background, flies lacking ine exhibit downturned wings and an indented thorax. Flies lacking ine exhibit increased excitability of the larval peripheral nerve by causing the defective re-uptake of the substrate neurotransmitter of the ine transporter and thus overstimulation by this neurotransmitter. Flies lacking ine increase the growth of the perineurial glial layer of the larval peripheral nerve. Flies overexpressing ine exhibit delayed onset of long-term facilitation and increased failure rate of transmitter release at the larval neuromuscular junction, reduced amplitude of larval nerve compound action potentials, suppression of the leg-shaking behavior of mutants defective in the Shaker-encoded potassium channel, and temperature-sensitive paralysis
Semi-dwarf, chlorina, late heading and low fertility phenotypes
Deletion of the gene has no discernible impact on morphology or cell size. YtfB/dedD double mutant grows as filamentous cells
RNAi-mediated knockdown has minimal effects on development and worms reach adulthood, but are sterile (PubMed:23754964). Sterility is primarily caused by a defect in the sperm/oocyte switch producing hermaphrodites without oocytes and with more sperm (PubMed:23754964). Slightly lower global transcript levels, while constitutive splicing remains unaltered, in larval stages L3 and L4 (PubMed:23754964). Modifies the distribution of RNA polymerase II subunit ama-1 along chromatin (PubMed:23754964). Significant overlap (q<0.05) in the transcripts down-regulated by knockdown of pre-mRNA-splicing factor 8 homolog prp-8 (PubMed:23754964). In a gld-3 mutant background, produces sperm displaying a masculinization of germline phenotype (PubMed:23754964). In a fog-1 mutant background, only develops oocytes (PubMed:23754964)
Accumulates 20% of ergosterol of wild type
Reduces slightly the production of iso-A82775C
Flies exhibit disruption of olfactory learning
Impaired glucose transport activity
Mutants suffer perinatal degeneration of the medial and most of the lateral mammillary nuclei, as well as of the mammillothalamic bundle. Mutants show no deficits in hippocampal-dependent tasks as contextual fear conditioning and social transmission of food preference. They have a highly specific memory deficit, restricted to the performance of spatial working memory tasks with no impairment of spatial reference memory (PubMed:15654859). Female mutants have lactation defects with mammary glands with incomplete lobuloavelor development and morphological defects in the inferior colliculi of the midbrain (PubMed:11170346)
Hypersensitivity to blue light (BL) leading to shortened hypocotyls in BL
Larvae are morphologically indistinguishable from wild-type sibling larvae, but their absorption of lipids is severely impaired
Reactivated transcription of heavily methylated silent loci, via chromatin demethylation. Hypomethylated chromatin; gain of histone H3 'Lys-4' methylation (H3K4me) but depletion of histone H3 'Lys-9' methylation (H3K9me). Altered leaf shape, increased cauline leaf number, and delayed flowering onset (due to FWA derepression). Accumulates developmental abnormalities and transcription derepression by slowly inducing heritable lesions (hopymethylation) at unlinked loci. Derepressed paternally inherited MEA locus in male gametophytes and seeds. Reactivation of several silent retrotransposons. Smaller chromocenters with reduced heterochromatin amount. Causes a striking decondensation of centromeric heterochromatin, a redistribution of the remaining methylation of DNA, and a drastic change in the pattern of histone modification. Abnormal subcellular localization of MBD proteins (e.g. MBD2, MBD5, MBD6 and MBD7). Smaller seeds in male inherited disruption, but larger seeds in female inherited ones. The heritable and cumulative hypermethylation and silencing of BNS, leading to the bonsai phenotype, requires the hypomethylation of the flanking LINE transposon
At 10-week old, mice have a smaller cerebellum, corpus callosum and thalamus and motor abnormalities (PubMed:22521465). Normal number of Purkinje cells in the cerebellum at birth but numbers start to decrease as mice get older (PubMed:22521465). Purkinje cells in the cerebellum have an irregular shape, a granular cytoplasm and degenerated dendrites characterized by fewer dendritic spines processes (PubMed:22521465). Loss of inosine phosphorylase activity in cerebellum, liver and kidney (PubMed:22521465). In the thymus, causes a 2-fold increase in the frequency of immature CD4(-) CD8(-) double negative (DN) thymocytes and a decrease in the total cell numbers of CD4(+)CD8(+) double positive (DP), and CD4(+) and CD8(+) single positive (SP) thymocytes due to an increase in apoptosis (PubMed:10859343). In the spleen and lymph nodes, numbers of CD4(+) and CD8(+) T-cells are reduced and the frequency of immature CD19(+)IgM(+) pre-B cells is increased without affecting the frequency of IgM(+) mature B-cells (PubMed:10859343). In the spleen, numbers of myeloid cells are also increased (PubMed:10859343). In thymocytes, mitochondrial dGTP levels are increased, and GTP levels and deoxyguanosine kinase activity are reduced (PubMed:10859343). Accumulation of dGTP in the mitochondria of thymocytes is probably causing thymocyte apoptosis by interfering with the repair of mitochondrial DNA damage (PubMed:10859343). Cytotoxic T-cells-mediated killing is impaired in absence of IL2 (PubMed:10859343). In urine, levels of inosine, deoxyinosine, guanosine, and deoxyguanosine are increased (PubMed:10859343)
Mice exhibit growth retardation, become emaciated, and die within 5 weeks of birth. The median and mean life span is 15 and 16 days. Macroscopic dissection reveal that mice suffered from megacolon, with dilation from the distal small intestine to the proximal colon and display enteric nerve hyperplasia. Severe occlusion are observed in the distal colon, because the colon motility is not coordinated. Defects are due to abnormal enteric nervous system (ENS) proliferation
Death during embryonic development between days 8.5 and 10.5. Embryos are reduced in size and display delayed development. They have axial midline defects, and randomized cardiac looping. The midline sonic hedgehog signaling is blocked in these mice
Cells lacking KdpD and KdpE show an increase in virulence in mouse model of infection, with significantly shorter survival times
RNAi-mediated knockdown or RNAi-mediated knockdown in body wall muscles causes ectopic membrane extensions from body wall muscles
Increased susceptibility to the fungus Alternaria brassicicola
Deletion mutants display only a small defect in acute infection, but remarkably are unable to promote persistent abscesses during animal infection
Plants lacking both MBS1 and MBS2 exhibit premature leaf senescence
No degradation of trans-translationally tagged-peptides
Failure of fusion of the polar nuclei during megagametogenesis
Unable to grow on nutrient agar at 42 degrees Celsius. A triple mepS-mepH-mepM mutant is inviable, whereas a double mepS-mepM will grow on a nutrient-poor medium but not on a rich medium, suggesting the 3 endopeptidases are functionally redundant in vivo. Depletion experiments of the double or triple mutants lead to cell lysis, as well as significantly decreased incorporation of mDAP into peptidogylcan sacculi and increased amounts of the enzyme's substrate (Tetra-Tetra-anhydro muropeptide)
No visible phenotype under normal growth conditions, but leaves have decreased levels of hexadecatrienoic fatty acid (16:3) and increased levels of oleic acid (18:1)
Leads to decreased azole resistance, including itraconazole, posaconazole and voriconazole
Mutants are not able to grow on the tertiary alcohols TBA and TAA
Embryonic lethal with failed embryonic morphogenesis. Disrupted intracellular structural integrity from the 2-fold stage of embryogenesis resulting in thickening of the epidermis, abnormal intermediate filament distribution and detachment and collapse of muscle from the cell body, particularly in the head, tail and midbody. RNAi-mediated knockdown results in developmental defects whereby 95% embryos do not undergo morphogenesis and arrest before the two-fold stage with abnormal head and tail structures and reduced motility within the eggshell. Lethality in 40% of mutants (that survive RNAi-mediated knockdown) by the adult molting phase of development, with the remaining mutants displaying molting defects and paralysis
Flies are recessive lethal with a larval growth defect phenotype. Hypomorphic bel mutants are male-sterile due to defects in spermatogenesis and female sterile as oogenesis usually arrests around stages 8-9 and egg chambers completely degenerate
Resulted in loss of trypacidin and questin production (PubMed:26242966)
Decreases nucleosomal density (PubMed:19683497). Increases HTA1 RNA level; simultaneous disruption RTT109 alleviates the effect (PubMed:19683497). Abolishes localization of RTT106 to the HTA1-HTB1 promoter (PubMed:19683497)
Lethality; mice do not survive past birth (PubMed:35585237). Mutant mice show developmental patterning defects affecting craniofacial structure, abdominal wall closure and epidermal stratification (PubMed:35585237)
Deletion causes light-independent expression from the carB promoter
RNAi-mediated knockdown in the resistant strain L3-5 infected with P.berghei, causes a 5-fold reduction in the number of melanized ookinetes (PubMed:16922859). Simultaneous RNAi-mediated knockdown of CLIPB4 and CLIPB17 in the resistant strain L3-5 infected with P.berghei, causes a 52-fold reduction in the number of melanized ookinetes (PubMed:16922859). RNAi-mediated knockdown in the susceptible strain G3 infected with P.berghei has no effect on the response to parasite infection (PubMed:16922859). Simultaneous RNAi-mediated knockdown of CLIPB4 and CTL4 in the susceptible strain G3 infected with P.berghei, abolishes ookinete increased melanization caused by RNAi-mediated knockdown of CTL4 (PubMed:16922859)
Mutant seedlings show a severe growth retardation phenotype and die within 30 days, due to increased rates of water loss
Does not affect tolerance to 2-benzoxazolinone (BOA)
No visible phenotype; due to the redundancy with PRORP2. Prorp2 and prorp3 double mutant is lethal
Abolishes the formation of phomopsin A and related metabolites
The gene is essential with only a few escapers. Flies display a short life span and are sensitive to mechanical shocks. Following bumping they undergo muscle spasm, followed by paralysis, delayed spasm and finally recovery. The sensitivity to shocks increases with age
No response to varying levels of oxygen. Significantly reduced aggregation and bordering behaviors
No sensitivity to killer toxin K28, a protein-toxin encoded by the M28 virus that uses S.cerevisiae as a host (PubMed:36800387). Cells lacking all 10 proteins of the DUP240 multigene family show no obvious alterations in mating, sporulation and cell growth (PubMed:12101299)
Mice were resistant to mechanical unloading-induced bone loss
Simultaneous knockout of SNCA, SNCB and SNCG exhibit an age-dependent decrease in SNARE-complex assembly. Thus, synucleins are required for maintaining normal SNARE-complex assembly during aging in mice
Cells show a distorted structure of the meiotic prophase nucleus but are able to complete mitosis successfully
Knockout mice which are homozygous for the PAFAH1B2 gene appear developmentally normal, and are born at the expected Mendelian rate (PubMed:12775763). Females bred normally, whereas male are infertile, and spermatogenesis is disrupted at mid- or late pachytene stages of meiosis or early spermiogenesis (PubMed:12775763). Double mutant female mice which are homozygous for PAFAH1B2 and PAFAH1B3 are grossly normal and fertile, whereas double-mutant males are infertile. Double mutan mice manifest an earlier disturbance of spermatogenesis with an onset at preleptotene or leptotene stages of meiosis (PubMed:12775763)
No visible phenotype under normal growth conditions, but mutant plants are hypersensitive to salt stress
Embryonic lethality when homozygous in the phs1-2 allele (PubMed:15208393), but after several backcrossing, phs1-2 and other homozygous alleles (phs1-4 and phs1-5) are similar to the wild-type (PubMed:20224945)
Single knockout mice show early embryonic lethality (PubMed:20574042). Mice with conditional knockout in embryonic fibroblasts are born normally, grow to adulthood without apparent abnormalities but have reduced glucosylceramide beta-1,4-galactosyltransferase activity (PubMed:30114188). Double knockout mice of B4GALT5 and B4GALT6 genes develop normally during embryogenesis and perinatal stage (PubMed:30114188). However, they show growth retardation and motor deficits with hindlimb dysfunction at 2 weeks of age, and they all die by 4 weeks of age (PubMed:30114188). Axonal and myelin formation are remarkably impaired in the spinal cords and increased immature neurons in the cerebral cortices seen (PubMed:30114188). Glucosylceramide beta-1,4-galactosyltransferase activity and major brain gangliosides are completely absent in brain (PubMed:30114188). Knockdown in subcutaneous adipose tissue alleviates insulin resistance and adipose tissue inflammation, increases adipogenesis in high-fat diet (HFD)-fed mice and ob/ob mice and reduces the glycosylation of BMPR1A (PubMed:29415997)
FBXO10 deletion has no detectable effect on B-cells in bone marrow or spleen. Similarly, it has no detectable effect on T-cell thymic development or T-cell splenic maturation
Moderate increase in embryonic lethality of progeny of X-ray-irradiated adults (PubMed:22383942). Reduced lifespan to 18.6 days compared to 22 days for wild type animals (PubMed:22171324). Decreased contour ration of interphase nuclei, nuclear envelope invaginations and faster turnover of emr-1 at nuclear envelope (PubMed:25653391). Delay of daughter nuclei separation (PubMed:25653391). Two microtubule-organizing centers (MTOCs) found in close association with nuclei during nuclear separation instead of only one as in wild type animals (PubMed:25653391). RNAi-mediated knockdown leads to embryonic lethality and chromosome segregation defects in the F1 progeny (PubMed:12684533). Simultaneous knockout of lem-2 and emr-1 leads to embryonic lethality, 8.5% shorter animals in larval stage L2, abnormal gonads and a developmental stop at late L2/early L3 (PubMed:22171324). Missing cell divisions in the postembryonic mesodermal lineage and failure to produce any of the differentiated M lineage cells (PubMed:22171324). Defects in the organization of chromatin, nuclear intermediate filaments, and nuclear pore complexes (NPCs), and defects in mitosis in cells that continue to divide after embryogenesis (PubMed:22171324). In the mitotic zone of the gonad, lmn-1 and NPCs are mislocalized and nuclei are misshaped (PubMed:22171324). Misshaped nuclei with large lmn-1 aggregates, clustered NPCs and condensed chromatin in somatic hypodermal cells (PubMed:22171324). Defects in motility, sarcomere organization, and muscle attachment to hypodermis (PubMed:22171324). Decreased motility and near paralysis at day 6 (PubMed:22171324). Disorganized thin and thick filaments of sarcomeres and abnormally positioned muscles at day 3 and 6 (PubMed:22171324). Decreased pumping rate of the pharynx (PubMed:22171324). Simultaneous RNAi-mediated knockdown of lem-2 and emr-1 causes anaphase chromatin bridges and redistribution of baf-1 from the nuclear periphery to the segregating chromatin during anaphase (PubMed:12684533). RNAi-mediated knockdown in a cnep-1 mutant background leads to severe nuclear sealing defects (PubMed:32271860)
Homozygous mutant mice are not viable and have neural development defects, abnormal neural tube patterning, polydactyly, cardiac edema, and variable microphthalmia. Mutant cells have a marked reduction in the number of cilia
Morpholino knockdown causes aberrant angiogenesis with excessive intersegmental vessel branching, due to excessive expression of vegfa
Mutant shows a growth defect in iron-deficient medium and is significantly attenuated in a murine kidney abscess model of infection
Cells lacking this gene fail to grow on low-ammonia medium but grew on high-ammonium medium
Impaired xylulose kinase activity in cytoplasm. Hypersensitivity to D-xylulose (Xyl) leading to reduced seeds germination. Loss of remediation of photosynthetic pigments after oxo-clomazone-mediated bleaching, thus leading to albino plants
Impairs the production of cyclochlorotine
Abolishes T-2 toxin production and dramatically decreases the transcript accumulation for trichothecene genes and an apparent farnesyl pyrophosphate synthetase (FPPS) gene (PubMed:11679358, PubMed:12732543)
RNAi-mediated knockdown causes reduced fat storage but does not affect feeding behavior
Mice are viable, anatomically normal and reach adulthood but display impaired fertility consequent to an inability of the spermatozoa to ascend the uterotubal junction (UTJ) canal of the female reproductive tract and gain the site of fertilization. Spermatozoa fail to establish a strong association with either epididymal epithelial cells, the zona pellucida of oocytes or oviductal epithelial cells, yet they are capable of fertilizing eggs in vitro
Deficient mice develop and grow normally but suffer severe osteopenia and spontaneous fractures with stresses that increase ascorbic acid requirements, such as pregnancy or castration (PubMed:20410296). Deficient mice exhibit reduced asorbic acid and D,L-glyceraldehyde levels. The activities of glucuronate reductase and glucuronolactone reductase, which are involved in ascorbic acid biosynthesis, are suppressed in AKR1A knockout mice (PubMed:22820017, PubMed:20410296)
RNAi-mediated knockdown results in arrest at metaphase during meiosis I in early embryos. Defective embryonic polarity due to improper first cell division
Defective larval tissue histolysis and epithelial fusion during metamorphosis (PubMed:12530966). Impaired fasciculation of ISNb nerves (PubMed:18045838)
Homozygous knockout mice for CNTD1 are grossly similar to wild-type, surviving into adulthood and exhibiting appropriate mating behavior. Males are sterile with a decreased testis size. Females are also sterile
Cells lacking this gene show a normal growth rate, do not exhibit a decrease in the efficiency of natural transformation, but display a reduced capacity to survive ionizing radiation when exposed at doses superior to 2.5 kGy. DNA repair following irradiations is slower. Cannot be complemented by ssb. A double recA-ddrB disruption shows no signs of DNA repair 24 hours after irradiation
Mutant animals are viable and recovered in the appropriate Mendelian ratios. they are smaller than their littermates until adulthood and exhibit abnormal cage behavior, including reduced activity
Knockdown animals obtained using siRNA technology have smaller brains than their wild-type littermates. Performance on the standard Morris water maze indicated spatial memory defects and learning disabilities
Morpholino knockdown of the protein causes a small liver phenotype. Morpholino which can simultaneously block the translation of leg1a and leg1b, causes a more severe small liver phenotype with hypoplastic exocrine pancreas and intestinal tube as well
Cell lysis during cytokinesis
Plants are dwarf with reduction in cell elongation and decrease in cellulose content
Knockout mice manifest hydrocephalus, polydactyly, and delayed skeletal development. At cellular levels, ICK knockout results in abnormally elongated cilia and compromised SHH signaling
Perinatal lethality; mice die at the intermediate stage of embryonic development because of severe growth retardation (PubMed:32324833). Tamoxifen-inducible deletion in adult mice leads to transient body weight loss associated with decrease of fat and liver glycogen storage (PubMed:35328622)
Hypersusceptiblity to both virulent and avirulent strains of the bacterial pathogen P.syringae associated with impaired pathogen-mediated induction of salicylic acid (SA) and reduced pathogenesis-related (PR) genes induction. These phenotypes are reversed by SA treatment. In the cv. No-0 but not the cv. Columbia background, defects in SA accumulation or signaling enhances resistance to necrotrophic pathogens such as the fungi B.cinerea and A.brassicicola, leading to small necrotic spots and minor chlorosis, as well as reduced fungal growth
Abolishes the production of ergosterol
Mutants die at a late embryonic stage with severe defects in head morphogenesis (PubMed:25653389). In embryos, RNAi-mediated knockdown in the hemocytes has no effect on their developmental migration during stages 10-14 of embryogenesis (PubMed:25739458)
Mutant does not produce asukamycin and accumulates protoasukamycin
Hindlimb muscular dystrophy. Hindlimb skeletal muscle tissue exhibits impaired phosphatidylcholine biosynthesis and increased phosphatidylcholine catabolism, with concomitant accumulation of choline. Mitochondria are abnormally large and exhibit decreased inner membrane potential
No visible phenotype under normal or hypoxic and normoxic stationary phase growth, nor in mouse- or human-derived macrophage cell lines
Essential for sporulation, disruption affects the expression of prespore-specific genes but not early mother-cell-specific genes, i.e. cells do not progress beyond stage III of sporulation. A double spoIIIJ-yqjG deletion is lethal. Genetic competence increases about 20-fold in the single disruption
Cell integrity defects (PubMed:23087368). Decreases virulence in a moth infection model (PubMed:23087368). Decreases virulence in a mouse systemic infection model (PubMed:22339665). Decreases cell population growth in macrophages (PubMed:23087368). Abnormal sphingolipid metabolism (PubMed:22339665). Sensitive to: high temperature; osmotic stress; sodium dodecyl sulfate; Congo Red; caffeine; sirolimus; Calcofluor White; amphotericin B; fluconazole; OSU-03012; hydrogen peroxide; diamide; sodium nitrite; myriocin (phytosphingosine biosynthesis inhibitor); aureobasidin A (inositol-containing sphingolipid biosynthesis inhibitor); phytosphingosine; OSU-03012 and fluconazole (PubMed:22339665, PubMed:23087368). Decreases PKC1 activation (PubMed:23087368). Decreases MPK1 phosphorylation during cell wall stress induced by Calcofluor White and fluconazole (PubMed:22339665, PubMed:23087368). Decreases melanin levels (PubMed:23087368)
No effect during photoheterotrophic (anaerobic/light) growth on succinate or 3-hydroxypropionate, no growth on acetate under the same conditions
IL19-deficient mice are more susceptible to innate-mediated colitis and develop more severe inflammation in response to injury (PubMed:19834971). In addition, mice respond to vascular endothelial growth factor (VEGF) significantly less than wild-type mice (PubMed:27053520)
Embryo lethality at the globular stage
Arrest of meiosis in male and female germ cells, causing seed sterility
Deletion decreases hemagglutination and fimbriation levels
Silk moth larvae are transluscent due to the absence of XDH activity and are thereby unable to synthesize uric acid
Still forms preautophagosomal structures (PAS) in proximity to the vacuolar membrane (PubMed:26442587)
Mutants contain only mono-, di- and trisaccharide-modified phosphodolichols. Deletion does not alter cell growth or stability of the S-layer. Mutants exhibit defective or limited motility
Spores lacking this gene fail to germinate in the presence of peptidoglycan fragments or purified GlcNAc-MurNAc tripeptides and tetrapeptides. They still respond to the nutrient germinant L-alanine and to the chemical germinant Ca(2+)-dipicolinic acid, indicating that the spores are still capable of germinating and that PrkC is not involved in nutrient or chemical germination
No visible phenotype under normal growth conditions, but mutant plants have reduced content of beta-1,4-galactan in leaf cell wall
Increased nociceptive thresholds, increased stress-induced analgesia and reduced morphine tolerance
No visible effect on arabinose uptake or growth on arabinose
Decreased propionate kinase activity, cells grow to lower density on 1,2-PD and excrete more propionate into the medium. A double pduW-pduX deletion grows as well as wild-type on 1,2-PD
Retinal cells from mutant mice display a subtly altered response to cycles of light and darkness, due to a failure of the ON bipolar cells in the retina to become depolarized in response to light. As a consequence, mutant mice display little or no pupillary contraction in adaptation to low light intensity. Besides, they exhibit strongly impaired responses to moving stimuli, and fail to produce a response when the visual constrast is low. Besides, rod bipolar cells from mutant mice lack TRPM1 channel activity
A triple kaiA-kaiB1-kaiC1 deletion grows normally under photoautotrophic conditions in continuous light. In a light/dark regime has strongly restricted viability and impaired growth behavior, and overall decreased pigments (after 5-6 days); phenotype is more extreme when grown on 0.2% glucose
Leads to complete loss of culmorin production (PubMed:19880637). Does not affect the trichothecene biosynthetic pathway since 15-acetyldeoxynivalenol (15ADON) is still produced (PubMed:19880637). Keeps the ability to convert exogenously added longiborneol to culmorin (PubMed:19880637)
Lethal (PubMed:22157008). RNAi-mediated knockdown in the whole body, embryonic mesoderm, respiratory system or digestive system and reproductive tract is lethal (PubMed:22157008). RNAi-mediated knockdown in the larval digestive system, results in loss of gut acidification and disruption of protein O-glycosylation in copper cells (PubMed:22157008). RNAi-mediated knockdown in hemocytes, amnioserosa, endoderm, mesoderm or nervous system causes no defect (PubMed:22157008)
Mice were born at the expected Mendelian ratio and do not show apparent phenotype. They are however more susceptible to carcinogenesis and develop spontaneous tumor. Cells display polyploidy and aneuploidy
Growing cells lacking this gene have a 4-fold increased spontaneous mutation frequency (a mild mutator phenotype), as well as an increased sensitivity to DNA-damaging agents such as H(2)O(2) or t-BHP. These phenotypes are increased in a double ytkD/mutT disruption (PubMed:16513759). They are also seen in stationary phase cells. Triple ytkD/mutM/mutY disrupted strains show increased mutation rates during exponential and stationary phase (PubMed:19011023)
Leads to reduced formation of conidia (PubMed:24632440). Exhibits significantly reduced pathogenicity, developing only a few small necrotic lesions (PubMed:24632440)
Retarded growth due to impaired stomatal movement
Displays disruption of cellular organization in the postembryonic root and shoot apical meristems. Leads to decreased 26SP accumulation, resulting in reduced rates of Ub-dependent proteolysis. Shows hypersensitivity to heat shock and increased oxidative stress tolerance. Displays enlarged leaves, stems, flowers, fruits, seeds and embryos, caused by increased cell size and shows increased branch number and nuclear size of trichomes, in correlation with increased ploidy. Mutant displays enhanced susceptibility to the fungal pathogen Golovinomyces cichoracearum. The double mutants rpt2a and rpt2b are blocked in both male and female gametogenesis (PubMed:22158466, PubMed:21784786)
Not essential, it can be disrupted
Deletion of the C-terminal 130 amino acid residues decreases both the affinity and the Vmax of the K(+)-uptake process by 1 order of magnitude
RNAi-mediated knockdown causes sterility due to a defect in germ cell proliferation and/or differentiation
Abolishes the production of the janthitremanes shearinine A, F or K as well as of 13-desoxypaxilline
Essential for viability (PubMed:21195204). Leads to swollen spores in heterokaryons with a low germination rate and arrest at this stage (PubMed:21195204)
Viable and fertile, with no apparent coordination defects (PubMed:22343891). Flies have significant defects in detection of strong touch stimuli, however detection of gentle touch and temperature is unaffected (PubMed:22343891). Decreases firing frequencies of adult leg tarsal bristles (PubMed:32649914). In females, no effect on texture selection during egg-laying (PubMed:32649914). RNAi-mediated knockdown in NompC-expressing neurons, reduces the female's preference for softer egg-laying substrates (PubMed:32649914)
The majority of animals are either embryonic or larval lethal. Rare surviving animals develop into uncoordinated sterile adults with hyperplasia of tissues including the uterus and the spermatheca of the somatic gonad (PubMed:18718460). RNAi-mediated knockdown results in a reduction in brood size of the injected parent and embryonic lethality of offspring between gastrulation and the two-cell phase of embryogenesis (PubMed:11864566). RNAi-mediated knockdown causes synapse clusters that are retained rather than eliminated in the secondary synapse region, anterior to the vulva during synapse development (PubMed:17626846). RNAi-mediated knockdown leads to an increase in germ cell apoptosis in response to genotoxic stress (PubMed:18340346). RNAi-mediated knockdown within 16 hours of RNAi administration results in defects in embryonic divisions including spindle mispositioning, abnormal polar bodies and ectopic furrows, and hyperplasia of the somatic gonad and hypodermis in larvae (PubMed:11864567). All embryos laid 16 hours post RNAi treatment arrest and contain almost twice the number of cells as wild-type embryos (PubMed:11864567). Zygotic RNAi-mediated knockdown results in 90% sterility (PubMed:11864567)
Reduced tissue growth in the wing imaginal disk
Mice are normal in appearance, size and fertility. In aged mice, the number of MZ B-cells is increased, and serum concentrations of IgM, IgG2b, and IgG3 are elevated
CoA-dependent KG oxidoreductase activity is absent in a mutant strain deleted for both genes korA and korB, and this strain is impaired for aerobic growth in the absence of sufficient amounts of CO(2). Inhibition of the glyoxylate shunt or exclusion of exogenous fatty acids alleviates this growth defect. Simultaneous disruption of korAB and kgd results in strict dependence upon the glyoxylate shunt for growth
Mild slow-growth phenotype in response to reduced iron levels
Growth inihibition, Pi accumulation in shoots and up-regulation of phosphate starvation-induced (PSI) genes downstream of PHR2 under high phosphate conditions
Cells lacking this gene display maltose accumulation
Under normal culture conditions, the flies progress through development until they die during or shortly after adult eclosion. Under low density culture conditions, many flies survive and develop into morphologically normal adults. The mutant flies are, however, very sensitive to starvation, displaying inability to efficiently mobilize stored lipid in the midgut and fat body, increased levels of long-chain fatty acids and triglycerides, and premature death
Deletion mutant does not exhibit detectable PhoA activity, even under growth conditions where Pi is the limiting nutrient (PubMed:17526710). SenX3-regX3 deletion mutant is more sensitive to phosphate limitation, showing a reduced ability to grow at lower phosphate concentrations (PubMed:22956756). The M.tuberculosis operon can functionally complement the growth phenotype in M.smegmatis under phosphate-replete conditions, but not under low phosphate conditions (PubMed:22956756)
Subtle morphological defects such as an aberrant stalk structure; due to the redundancy between ifkA and ifkB functions. Cells lacking ifkA and ifkB display severe morphological and patterning defects. Mutant cells aggregate in streams that give tightly clumped mounds. Fingers form from the mounds but remain attached to one another, especially at their bases. The fingers culminate to give fused and entangled structures lacking proper stalk but containing some spores. The morphological defects are consistent with an enhanced cell-cell and cell-substrate adhesiveness of the developing double null cells, which may result in inappropriate cell contacts and altered cell motility and sorting properties
Impairs the production of acetylaranotin and accumulates chemically stable intermediates or shunt products such as cyclo-L-Phe-L-Phe, prearanotin A, 2-hydroxy-2'-ene-cyclo-L-Phe-L-Phe, 2-methoxy-2'-ene-cyclo-L-Phe-L-Phe, emethacin A and 2-imino-10'-hydroxy-cyclo-L-Phe-L-Phe (PubMed:23586797)
No effect on vanillin degradation
Male mice are subfertile due to reduced sperm motility. The reduced motility is due to morphological defects in the sperm flagellum at the midpiece-principal piece junction caused by the disordered arrangement of doublet microtubules and outer dense fibers
Mutant mice exhibit severe laterality defects, including situs inversus totalis and heterotaxy with randomized situs and left and right isomerisms (PubMed:27305836, PubMed:34715025). They show partial embryonic lethality associated with heterotaxia (PubMed:27305836, PubMed:34715025). The motility of tracheal cilia in adult mice is also affected (PubMed:34715025). At 8 dpc, they have a reduced beat frequency of nodal cilia (PubMed:34715025). 50% of tracheal cilia axonemes have missing dynein arms (PubMed:34715025). Double PIERCE1 and PIERCE2 mutants show high levels of embryonic and pre-weaning lethality. The few mice that survive birth display hydrocephalus and laterality abnormalities, dying by 20 days of age (PubMed:34715025)
Grows normally in liquid culture, traffics into host (human and mouse) acidified compartments early after phagocytosis, suggesting it no longer arrests phagosome maturation as well as wild-type, impaired growth in mouse macrophages (PubMed:20844580). No growth phenotype in phosphate-rich medium (3.6 mM Pi), nor in restricted medium (Sauton), but in phosphate-free Sauton medium dies faster than wild-type when pre-exposed to complete starvation (PubMed:20933472)
Significantly decreased binding to human saliva- and gp340-coated resins (DMBT1)
Normal cell population growth and colony morphology
No visible phenotype when grown under normal conditions; due to partial redundancy with CLB3. Chlorotic symptoms under low-K(+) stress. Clb2 and cbl3 double mutants show stunted growth, reduced fertility and necrotic lesions at leaf tips. They have also a reduced vacuolar H(+)-ATPase activity, are hypersensitive to excessive metal ions and are more tolerant to low-K(+) conditions
Mutant becomes virulent on Col-0 plants (PubMed:17951377, PubMed:23736288, PubMed:23951354). Mutant still induces disease on the Kashmir ecotype (PubMed:17951377, PubMed:23951354)
No visible phenotype under normal growth conditions (permissive temperature of 21 degrees Celsius), but mutant plants have a temperature-sensitive phenotype (when transferred to 30 degrees Celsius) showing radially swollen roots and reduction in cellulose production
Cells lacking this gene show a derepression of lutABC expression. They are also defective in bacilysin production
Mutant adipocytes show reduced glucose uptake in response to an insulin stimulus (PubMed:26629404). Knockout animals placed on high-fat diet along with wild-type littermates exhibit an increased weight gain, significant elevated blood insulin and glucose levelswith insulin resistance (PubMed:26629404)
Deletion mutant protects mice from DNA virus infection
Mutations cause hypoactive behavior in adults
In a double sigL-rslA disruption mutant, no visible phenotype; not more susceptible than the parental strain to several oxidative and nitrosative stresses. Infected DBA/2 mice showed a significantly prolonged survival time relative to mice infected with wild-type bacteria, although bacteria proliferate normally
Albino phenotype and seedling lethal when homozygous. The phenotype is due to the absence of thylakoid membranes and granal stacks in plastids
Retarded growth
Deficient mice show any abnormality in growth and behavior. Both male and female are fertile
Male mice show severe infertility (PubMed:27811987, PubMed:33882315). Defects are caused by impaired riboflavin transport that suppresses the oxidative phosphorylation and reprograms spermatozoa energy metabolism by disrupting flavoenzyme functions (PubMed:33882315). In mutant spermatozoa, fatty acid beta-oxidation is defective with significantly reduced levels of acyl-carnitines and metabolites from the TCA cycle (the citric acid cycle) and accumulation of triglycerides and free fatty acids (PubMed:33882315). Sperms display abnormal flagellar bending and impaired motility and capacitation (PubMed:27811987)
Mice have splenocytes with defective proliferation in response to LPS but not to anti-CD40, IL-4 and anti-IgM. Though mice grew normally after birth, some of them started to develop atopic dermatitis-like skin lesions with acanthosis and lichenoid changes at the age of 4-5 weeks. All mice developed the disease by the age of 10 weeks. 5-week-old mice show pathological changes in the conjunctiva, including a heavy lymphocyte infiltration into the submucosa and loss of goblet cells in the conjunctival epithelium
Decreases virulence in maize stalks (PubMed:36577386). No sensitivity to Congo Red (cell wall disrupting agent) or sodium dodecyl sulfate (SDS) (membrane disrupting agent), and in vitro cell population growth appears normal (PubMed:36577386)
RNAi-mediated knockdown results in partial sensitivity to Cu(2+) ions with less than 70% of animals reaching adulthood 4 days after egg laying
No visible phenotype. Increased exudate production by the mature stigmas, but no effects on pollen tube germination, pollen tube growth or seed set
Inactivation of treZ does not affect the production of both capsular alpha-D-glucan and glycogen. Cells lacking this gene are not affected in their multiplication or persistence in the BALB/c mouse infection model
Simultaneous knockout of B9d2 and tctn is viable and does not show sensory behavioral defects (PubMed:27646273). Males produce motile sperm and show only slightly reduced fertility (PubMed:27646273). Sperm flagella show weak ultrastructural defects including broken and disorganised structure (PubMed:27646273). Length of the transition zone is decreased and recruitment of the tectonic-like complex compromised (PubMed:27646273)
Strains lacking panA gene alone display relatively normal growth rate and overall cell yield, but they are more sensitive to growth on organic versus inorganic nitrogen sources and hypo-osmotic stress, they show limited growth in the presence of L-canavanine and display enhanced thermotolerance. Moreover, strains lackings both panA and panB still show robust growth, demonstrating that the PAN proteins are not essential
Membranes isolated from axenically grown null cells have no detectable F-actin binding activity
Pupylation is severely impaired and the steady-state levels of the two known proteasomal substrates FabD and PanB are drastically increased
No germination phenotype
Mutant animals are born at the expected Mendelian ratio, but they exhibit a decreased fertility. They are healthy at birth. At 3 weeks of age, they start showing growth retardation. At 12 weeks, they are 15% smaller than their wild-type littermates. Adults develop neurological abnormalities, such as tremors, epileptic seizures and hindlimb clasping. These neurological deficits can be completely abolished when mice are fed with a diet enriched in branched amino acids
Decreased thermotolerance after a long recovery (2 days) under nonstress conditions following an acclimation heat treatment
Reduction in H(2)O(2) accumulation and callose deposits
RNAi-mediated knockdown in spermatocytes results in spindle envelope disintegration, failure to form contractile rings and central spindle microtubules during meiosis I resulting in abnormal cytokinesis and multinuclear cell formation
Gametophytic lethal phenotype
Mutants have increased sensitivity to novobiocin. Triple deletion of clsA, clsB and clsC results in a complete lack of cardiolipin, regardless of growth phase or growth conditions
Plants fail to accumulate significant amounts of the outer antenna subunits of PSI and PSII and to form grana stacks. 2Fe-2S cluster-containing complexes appear to be unaffected
Cells lacking this gene have no dimethyl sulfoxide (DMSO) reductase activity under aerobic, anaerobic without substrate, anaerobic with DMSO as substrate nor under anaerobic with nitrate as substrate conditions. Cells are not able to grow anaerobically by dimethyl sulfoxide (DMSO) respiration. DMSO does not activate transcription of the dmsEABCD genes induced by the anaerobic conditions. No effect on aerobical growth or growth under denitrifying conditions
Impairs the conversion of the ketone group into a methyl-ester group to yield semi-viriditoxin
Sensitive to methyl methanesulfonate (DNA damaging agent)
Embryonically lethality before the implantation stage
Embryonic lethal with no survival beyond stage 14.5 dpc (PubMed:19564597). Embryos show retarded growth but otherwise have no significant morphological defects (PubMed:19564597). Placental development is abnormal with significantly reduced vascularization of extraembryonic tissues (PubMed:19564597). In the placental labyrinth, there is an expansion of trophoblast cells which reduces available space for fetal blood vessels (PubMed:19564597). Trophoblast cells fail to fuse and form syncytiotrophoblast layer I (SynT-I), however development of syncytiotrophoblast layer II (SynT-II) is not significantly affected (PubMed:19564597). Double knockouts of Syna and Synb are embryonic lethal at stage 9.5 dpc to 10.5 dpc, indicating a more severe phenotype than the Syna single knockout (PubMed:22032925)
Knockout mice are born at the expected Mendelian ratio, but have decreased survival compared to wild-type littermates, with about 50% of mutant mice dying postnatally. Surviving animals develop normally and are fertile (PubMed:19273721, PubMed:19383529, PubMed:21499268, PubMed:33010377). They are however 60-70% smaller than wild-type littermates (PubMed:21499268). A major abnormality in knockout mice is impaired lung development, characterized by markedly reduced numbers of pulmonary blood vessels and increased alveolar spaces (PubMed:19273721). Although knockout mice show an unaltered brain gross morphology and neuronal density, they display microcephaly, with an overall brain size about 32% smaller compared to wild-type controls. This phenotype may be due to smaller neuronal size, rather than reduced neuron number, compared to wild-type littermates (PubMed:20043896, PubMed:25792865, PubMed:33010377). Mutant mice exhibit reduced dendritic length and spine density in the hippocampus and the cortex, which may lead to poor adaptation to new environments and impaired fear response (PubMed:19383529, PubMed:20043896, PubMed:25792865, PubMed:29554125). This effect on the brain is not uniform. Multiple brain regions suffer local atrophy, including extensive areas of the cortex, thalamus, and hippocampus, white matter tracts have a reduced volume, most notably in the anterior commissure, but also in the cerebral peduncle, fornix, and spinal trigeminal tract. On the other hand, local hypertrophy is detected in the basal ganglia, the accumbens, caudate putamen, and amygdala, as well as in the cortical layer IV, and cerebellum (PubMed:33010377). The analysis of a genetrap mouse strain lacking GIT1 showed phenotypic traits similar to attention deficit-hyperactivity disorder (ADHD), including hyperactivity, impaired learning and memory, and enhanced theta rhythms. These phenotypic traits could be reversed by amphetamines and methylphenidate (PubMed:21499268, PubMed:26113791). Abnormal thalamic oscillations, cortical theta rhythms and behavioral hyperactivity were also normalized by ethosuximide (PubMed:26113791). The abnormal behaviors decreased with age (PubMed:21499268). ADHD phenotype and response to amphetamines were not seen in other knockout mouse models (PubMed:29554125). Mutant animals show altered gait (PubMed:25792865). They exhibit defects in motor coordination and motor learning in rotarod test and abnormal spatial learning and memory (PubMed:25792865, PubMed:29554125). Knockout mice exhibit delayed bone fracture healing process. They display a persistence of cartilagenous callus and decreased chondrocyte proliferation and apoptosis, leading to their accumulation in the fracture area (PubMed:25138700, PubMed:24586541). The healing callus exhibits reduced blood vessel volume and number, as well as a reduced osteoclast number (PubMed:24586541, PubMed:31502302)
Decrease in average length of amylopectin chains (PubMed:21417378). Reduced content of amylopectin chains with a degree of polymerization (DP) of 8 to 12, but increased content of chains with a DP of 6 to 7 and a DP of 16 to 19 (PubMed:16443699)
Strong reduction in the number of macrophages recruited to wound sites (PubMed:26028435). RNAi-mediated knockdown in glial cells abolishes a number of events which normally occur following axon injury including drpr localization at severed axons, glial recruitment to severed axons, up-regulation of drpr in glial cells and clearance of axonal debris from the central nervous system (PubMed:18432193)
Conditional deletion in adult hearts causes sudden death in 87% of the mice. Hearts show substantial cardiac remodeling, including an increase in heart mass and correlative change in cardiomyocyte cross-sectional area, as well as a significant increase in cardiac fibrosis. Defects are probably due to mitochondrial calcium overload leading to increased generation of superoxide and necrotic cell death
Mice display partial embryonic lethality and heart failure
Not essential for normal growth in a single deletion. Required together with orc2 and orc10 in a minimal orc strain
XylP-xylQ double mutant retains the ability to ferment xylose but is impaired in its ability to ferment isoprimeverose
Increased levels of intracellular calcium. Impaired ATP-dependent calcium transport in endoplasmic reticulum (ER) membranes, but up-regulated vacuolar calcium transport. Sensitive to ER stress inducers DTT and tunicamycin, which inhibit the protein disulfide bond formation and N-glycosylation, respectively, and is thus sensitive to accumulation of misfolded proteins in the ER. Stimulated calcineurin phosphatase activity (PubMed:22132152). Cells conjugate to form zygotes at a lower efficiency than wild-type and they do not sporulate (PubMed:16394583)
Leads to an impairment of the symbiosis in M.truncatula and to a reduction of host PT4
Cells lacking this gene are unable to grow on anthranilate
Delayed flowering, long-hypocotyl phenotype under low fluences of far-red light and insensitive to ABA-mediated inhibition of root elongation
CHS3 abnormally localized to vacuole
Leads to hypersensitivity to endoplasmic reticulum (ER) stress caused by the N-glycosylation inhibitor tunicamycin (PubMed:34566931). Markedly impairs the elaboration of virulence factors such as the polysaccharide capsule and extracellular urease activity, when induced at 37 degrees Celsius corresponsing to the human body temperature (PubMed:34566931). Impairs also induction of the cytokines IL-6, IL-10, and MCP-1 in the lungs of mice and attenuates virulence in an intranasal murine model of cryptococcosis (PubMed:34566931). Leads to abnormal cell morphology of enlarged cells with collapsed cell walls and increased chitin within the cell walls, as well as strong growth defects at both 30 and 37 degrees Celsius when both DNJ1 and CNE1 are deleted (PubMed:34566931)
Does not affect the xanthocillin production
Null cells are still capable of osmoregulation and do not show any noticeable differences in their sensitivity to hypotonic conditions. Quintuple p2xA/p2xB/p2xC/p2xD/p2xE null cells displayed slight delay in their osmoregulatory response, but are still capable of regulating their cell volume in water. Extracellular purinergic response to ATP persists in the quintuple null cells and p2xC single null strains with no alteration in the kinetics of the response, but the magnitude of the response is lower. Responses to the calmodulin antagonist calmidazolium are reduced and intracellular calcium signaling is disrupted in quintuple null cells. The presence of copper prevented both wild type and quintuple null cells from undergoing an osmoregulatory decrease in cell volume. No obvious morphological phenotype was apparent in the p2xC or quintuple p2x null strains. The quintuple null strain however did grow slightly slower than wild type in shaking axenic cultures
Essential, cannot be deleted (PubMed:27595587). Replacement of the gene with E.coli fabH causes loss of Xanthomonas ability to synthesize branched-chain fatty acids (BCFAs), but the mutant can grow in either enriched or minimal media, even though it grows slower than the wild-type strain (PubMed:27595587). Mutant with E.coli fabH loses the ability to produce cis-11-methyl-2-dodecenoic acid, a diffusible signal factor (DSF) required for quorum sensing, and exhibits reduced virulence (PubMed:27595587)
Delayed dark adaptation but normal final rod threshold
Impairs the production of tenuazonic acid (PubMed:26503170)
Probably essential, it was not disrupted in a global transposon mutagenesis study
Mutants born at the expected Mendelian ratio, and they appear normal with no gross developmental abnormalities (PubMed:31689374). Knockout female mice fed with high fat diet have reduced weight gain by elevating physical activity and energy expenditure (PubMed:31689374)
Embryonic lethal with severely defective embryonic morphogenesis with the formation of unspecified differentiated tissues, no endoderm and excess mesoderm (PubMed:9288749). In addition, embryos have defective mitotic spindle orientation in the 8-cell stage ABar blastomere (PubMed:9288749, PubMed:16678095). RNAi-mediated knockdown results in irregular distribution of the mitotic spindle orientating factor sdn-1 and wnt signaling protein mig-5, with premature accumulation of sdn-1 on the cell surface of the ABar blastomere during the prophase stage of mitosis, and reduced accumulation of mig-5 at cell contact sites between the Abar and C blastomere cells, respectively (PubMed:25344071)
Only abolishes the production of pleosporalin A but not of the 2 other final products
Deficient mice develop normally but manifest male sterility. Sperm are immotile and fragile with the axoneme of the flagellum lacking outer dynein arms (ODAs) and inner dynein arms (IDAs) and showing a disturbed microtubules organization
Weak abscisic acid (ABA) hyposensitivity during the early stages of seedling development. Slighty decreased drought stress tolerance
Full embryonic lethality. No live homozygous embryos are present after 11 dpc
Single mutant has no effect on cell growth or morphology under normal growth conditions. Triple disruption of tagTUV genes is not viable
Defective in RNA-mediated gene silencing
Deficient mice are 45% of the size of wild-type littermates at birth, and die shortly due to severe organ hypoplasia
Mice show defects in T-cell functions including impaired maturation, significantly reduced activation, reduced cell division as well as impaired cytokine production in response to specific or non-specific stimulation and during the course of infection with the mouse malaria parasite Plasmodium berghei
Worms exhibit defects in mobility. Mutation causes a dumpy (dpy) phenotype thought to be due to hyper-activation of body-wall muscle. Severe mutations cause paralysis thought to be a result of fully contracted muscles
Impairs autofusarin biosynthesis and leads to a yellow pigmentation via accumulation of the intermediate rubrofusarin (PubMed:21296881)
Renal function is impaired, with reduced ability of the collecting duct to adapt to alkalosis
Mice develop normally, exhibit no overt phenotype, but are infertile (both males and females). Gonads are characterized by the absence of post-meiotic cells. Impaired localization of Terb1 and Terb2 to the nucleus inner membrane
Impairs pathogenicity on differential wheat lines harboring the Snn1 gene
Various vegetative defects, including reduced leaf size, dwarfism, and abnormal cell death (PubMed:32306898). Plants lacking both CGF1 and CGF2 are impaired for female gametogenesis and embryogenesis, and have abnormal leaf morphology with yellow patches associated with an altered chloroplast integrity; this phenotype is rescued by sucrose treatment (PubMed:32306898)
Strongly reduced number of arbuscules undergoing accelerated degeneration during root colonization by arbuscular mycorrhiza (AM) fungi (e.g. Rhizophagus irregularis)
RNAi-mediated knockdown at the procyclic stage causes moderate growth defect and reduces production of guided RNAs (gRNA) due to a block in the processing of gRNA precursors
Mutant plants have extra floral organs. The modal numbers of organs in mutant flowers are 5 sepals, 5 petals, 5 stamens, and 2 carpels in contrast with the tetramerous pattern of the wild type
Albino (white leaves) and lethal under normal culture conditions, probably due to an impairment in thiamine biosynthesis
Embryonic lethality around gastrulation, due to growth defects during early embryonic development and aberrant mesoderm patterning
Leads to enhanced degradation of PMA1 in the vacuole
Cells lacking this gene are unable to translate UAG as pyrrolysine, and do not produce pyrrolysine
Leads to lethality (PubMed:19318129)
Up-regulates expression of the LiaRS two-component regulatory system; this effect is more pronounced on modified competence medium than on rich or sporulation medium
Mice show a general reduction of bone size and changes of bone shape. In the forelimb skeleton, the scapula lacks the central region of the blade. Cartilaginous templates are already reduced in size and show a transient delay in ossification in mutant embryos. Mice show a significantly reduced proliferation of prehypertrophic chondrocytes as well as of mesenchymal precursor cells
Disruption of this gene does not cause histidine auxotrophy
Embryos exhibit lack of retinal tissue combined with a reduced head size. Defects in neural crest stem cell migration and differentiation seen
Female sterility and defects in karyosome formation and oocyte polarity due to transposable element derepression. Ovary shows mislocalization of 2 proteins involved in the microRNA and/or RNAi pathways, Dicer and AGO2. In testis, transit-amplifying cysts fail to differentiate into primary spermatocytes, instead breaking down into ectopic germline stem cells (GSC) and smaller cysts, due to a depletion of Bag-of-marbles (Bam) protein
Viable but females are sterile. Mutant embryos show increased mitotic spindle length during metaphase and reduced mitotic spindle density
Enhanced ethylene sensitivity and early flowering
Mice exhibit unperturbed steady-state erythropoiesis but significantly increased reticulocyte production during stress erythropoiesis and appear to be partially protected against anemia
Results in significantly reduced expression of the leporins biosynthesis gene cluster (PubMed:26051490)
Deletion mutant cannot grow with D-xylose as the sole carbon source
RNAi-mediated knockdown in a Rieske iron-sulfur protein isp-1 mutant background reduces life-span extension, causes a mild reduction in fertility, and reduces induction of expression of glutathione S-transferase gst-4
Mutants exhibit defective or limited motility
Vigorous plants with thick inflorescence stems and enlarged leaves; more rounded tip in rosette leaves and more serrated cauline leaves
RNAi-mediated knockdown in hermaphrodite adults causes embryonic and larval lethality and head morphogenesis defects in L1 and L2 larval stages of offspring
Double RNAi-mediated knockdown and/or mutagenesis with gfi-3 results in increased embryonic lethality and the production of one-cell arrested embryos
Arrested at early embryo stages
Suppress the late-flowering phenotype of photoperiod-pathway mutants. Affects natural variation in flowering behavior in both long and short days
Semi-dwarf phenotype
Transformation efficiency drops 50- to 100-fold (PubMed:11918817, PubMed:11948146)
Deletion mutants do not colonize the ovine hoof. Mutants show also altered secretion of extracellular proteases and twitching motility
The double mutant della1/della2 exhibit slender shoots, early flowering and reduced root fresh weight (PubMed:24297892). Impaired arbuscule formation during arbuscular mycorrhizal (AM) symbiosis with AM fungi (e.g. Glomus versiforme) in plant missing both DELLA1 and DELLA2 associated with a reduced expression of AM genes (e.g. NSP1, NSP2, PT4 and LEC5); these phenotypes are phenocopied by treatment with gibberellic acid (GA) (PubMed:24297892)
None; has no effect on viability, growth or sporulation at low, normal or elevated temperatures
Seed coat mutant displaying primary wall detachment, reduced mucilage extrusion, and increased mucilage adherence. Decreased degree of homogalacturonan methylesterification in seed mucilage
Increases cytosolic free calcium level (PubMed:23895559). Resistance to cadmium (PubMed:23895559). Decreases cell population growth in serum (PubMed:29113016). Sensitive to calcium (PubMed:23895559). Abnormal level of calcineurin-mediated signaling pathway gene RNA, transepithelial migration gene RNA, and antioxidant gene RNA (PubMed:29113016). Decreases VCX1 RNA level and increases ECA1 RNA level during cellular response to calcium (PubMed:23895559). Decreases urease activity (PubMed:29113016). Avirulence in a mouse systemic model of infection; decreases lung fungal burden and abolishes brain fungal burden (PubMed:29113016). Decreases virulence in a mouse intranasal inhalation infection model; decreases lung fungal burden and abolishes brain fungal burden (PubMed:23895559). Severely decreases transepithelial migration through the host blood-brain barrier (PubMed:29113016). Increases susceptibility to phagocytosis by macrophages (PubMed:29113016). Phenotypes enhanced in a double knockout with VCX1 (PubMed:23895559)
A quadruple rpnA-rpnB-rpnC-rpnD deletion shows no change in basal RecA-independent recombination
Flies display disrupt centromeric sister chromatid cohesion very early in division (PubMed:14653991, PubMed:18801358). This failure of sister chromatid cohesion does not require separase and is correlated with a failure of the cohesin component Scc1 to accumulate in centromeric regions (PubMed:14653991). In contrast, no mitotic defects are observed in germ line cells during oogenesis (PubMed:18801358)
(Microbial infection) After infection with E.chaffeensis, results in reduced bacterial replication rate and increased survival (PubMed:22851751). RNAi-mediated knockdown in the whole organism, in the fat body or hemocytes results in a similar phenotype to the genetic knockout (PubMed:23306065). However, knockdown in the eye, salivary gland or wing has no effect (PubMed:23306065)
Male-specific lethality in embryos
Reduced organ length (e.g. inflorescence axis and roots)
Essential, cannot be disrupted
Mice display rickets and osteomalacia with isolated renal phosphate wasting associated with elevated FGF23 levels and normocalciuria
Reduced DNA methylation in some of the targets of RNA-directed DNA methylation (RdDM)
The dctA-dctPQM double mutant shows no growth on malate and fumarate and residual growth on succinate
RNAi-mediated knockdown results in developmental defects such as slow growth, protruding vulva, and a reduced brood size (PubMed:16710447). RNAi-mediated knockdown results in germ line defects, resulting in no embryos or impaired oogenesis (PubMed:23263989). RNAi-mediated knockdown suppresses the multivulval phenotype of the lin-15A-lin15B n765 mutant (PubMed:16507136, PubMed:16710447). RNAi-mediated knockdown shortens the lifespan of daf-2 e1370 mutants (PubMed:27039057)
Death by 10.5 dpc, with many developmental anomalies due in part to failures in yolk sac and chorioallantoic placentation. Heterozygous mice are normal and fertile
Mislocalization and precocious expression of orb in the ovary, accumulation of high levels of orb in nurse cells, elongation of orb poly-A tails, hyperphosphorylation of orb and reduced osk mRNA levels (PubMed:22164257). Reduced number of germ cells (PubMed:22454519)
Smaller root meristem size and fewer root meristematic cortex cells, associated with shorter roots and a slighty reduced sensitivity to RGF1 (PubMed:27229311). Quintuple mutants rgi1 rgi2 rgi3 rgi4 rgi5 display a consistent short primary root phenotype with a small size of meristem associated with a total insensitivity to RGF1 and undetectable levels of PLT1 and PLT2 (PubMed:27229312). The triple mutant missing RGI1, RGI2 and RGI3 is insensitive to externally applied RGF peptides (e.g. RGF1 and RGF2) and has short roots characterized by a strong decrease in meristematic cell number and declined levels of PLT1 and PLT2 at the root tip (PubMed:27001831)
Leads to the lack of coloured carotenoids and the accumulation of phytoene
Increased homologous recombination and replication defects (PubMed:25516598, PubMed:25595823). Growth inhibition due to defective cell proliferation. Hypersensitivity to DNA cross-link agents (PubMed:25595823). Loss of 45S rDNA repeats (PubMed:27760121)
Only viable in the presence of CoA or 4'-phosphopantothenate
Triple knockout of CDA1, CDA2 and CDA3 results in an absence of cell wall chitosan, melanization of surrounding media, an increase in capsule size, sensitivity to cell wall (sodium dodecyl sulfate), osmotic (NaCl) and heat stress, and avirulence in a mouse intranasal infection model
Increased DNA damage response, apoptosis and development of abnormalities such as kidney cysts
Short roots with abnormal twisting (e.g. leftward skewing) in media containing microtubule-disrupting drugs (e.g. oryzalin) (PubMed:28848569). Stronger sensitivity to high salt concentration and higher water loss rates under dehydration conditions (PubMed:21969089). Increased accumulation of superoxide under high salt condition (PubMed:21969089). All these phenotypes are associated with reduced MPK6 activity (PubMed:21969089). Insensitivity to abscisic acid (ABA) in terms of root growth inhibition (e.g. root cell division and elongation) and stomatal response leading to increased water loss under dehydrated conditions (PubMed:27913741). Impaired ABA-mediated increased activity of MPK6 (PubMed:27913741)
Impairs the production of fusaric acid (PubMed:22652150)
Reduced expression levels of several HNF3 target genes (phosphoenolpyruvate carboxykinase, transferrin, tyrosine aminotransferase) by 50 to 70%,. The germinal epithelium of testes is characterized by a loss of germ cells secondary to an increase in germ cell apoptosis that ultimately leads to a Sertoli cell-only syndrome. Significantly lower blood glucose in fasted mice
Impaired induced osteoclastogenesis
Increases the susceptibility to 4-nitroquinoline oxide, terbinafine, o-phenanthroline, itraconazole, and ketoconazole (PubMed:15105135). Affects the proper surface localization of the drug transporter CDR1 (PubMed:15105135)
Mice display higher inflammatory responses in models of TLR-dependent peritonitis. Macrophages show enhanced responsiveness to TLR stimulation and a significant change in membrane fluidity and the global cellular lipid composition
Impairs the expression of the majority of genes in the gliotoxin cluster with the exception of gliT (PubMed:17030582, PubMed:20548963, PubMed:21612254)
Significantly decreases loline-alkaloid production (PubMed:15654104)
Thymidine auxotrophy
Steatotic liver with increased hepatic and circulating triglycerides and total cholesterol. Shows reduced expression of genes mediating synthesis and oxidation of hepatic lipids
Significant impairment of motor activity, coordination and balance; spontaneous myoclonic seizures; and decreases in episodic memory. 3- and 6-month old mice contain numerous large insoluble aggregates composed mainly of polyglucosans called Lafora bodies (LBs) in skeletal muscle, liver, heart and brain. Glycogen levels are increased 1.6-fold and 1.2-fold respectively in skeletal muscle and liver of 6-month old mice. Glycogen phosphate levels are increased 1.5-fold in skeletal muscle and liver of 6-month old mice. In brain extracts from 1-, 3- and 12-month old mice, total amounts of Epm2b/laforin protein (but not mRNA) are increased. In brain and embryonic fibroblast cells, levels of the autophagy marker Map1lc3b/LC3-II are reduced. In the brain, levels of the autophagy dysfunction marker Sqstm1/p62 are increased
Enhanced resistance to the pathogens Ralstonia solanacearum and Plectosphaerella cucumerina
Knockout mice exhibit impairment of insulin clearance and hyperinsulinemia, which cause insulin resistance; develop insulin resistance primarily in liver (PubMed:18544705). Display normal white blood cell, red blood cell, hemoglobin and platelet. On the other hand, mice have a high number of neutrophils. Display also increased thrombus growth, and enhanced susceptibility to type I collagen induced pulmonary thromboembolism (PubMed:19008452). Spontaneously develop systemic neutrophilia. Upon Listeria Monocytogenes (LM) infection mice die dramatically faster within 7 days and display an improved bacterial clearance accompanied by severe tissue damage and necrosis in the liver (PubMed:21029969). Knockout mice present an increased basal permeability (PubMed:21081647). Knockout mice show a reduced bone mass namely a decreased trabecular bone volume accompanied by a reduction in trabecular number and an increase in trabecular separation (PubMed:25490771)
Mutants show a significant reduction in the efficiency of extracellular protein secretion (PubMed:9282737). They are also defective in twitching motility (PubMed:31431558)
Delayed germination (PubMed:17953649). No visible phenotype under normal growth conditions, but the double mutant plants tcp14 and tcp15 exhibit reduction in inflorescence height and pedicel length (PubMed:21668538)
Completely abolishes the production of hydroxyclavatol, as well as of the clavatol-derived compounds peniphenone D, penilactone D, penilactone A, penilactone B and hydroxyclavatol (PubMed:30811183). Leads to the accumulation of clavatol (PubMed:30811183)
Lethal when homozygous. Knockdown alleles have no obvious defect in growth and development
Mice show overextension of collateral branches of developing axons and defects in neuronal migration in the brain. They die within 24 hours of birth
Extremely slow growth at various temperatures
RNAi-mediated knockdown reduces overall fat content (PubMed:26505800). Decreases survival upon infection with P.aeruginosa (PubMed:26876169, PubMed:28662060). Reduces induction of expression of infection response gene, irg-1, in response to P.aeruginosa (PubMed:26876169). The decrease in survival upon P.aeruginosa infection on a zip-11 mutant background is abolished by RNAi-mediated knockdown of cebp-2
In additions to several malformations due to organ fusion, plants lacking FDH demonstrate an enhanced cell wall permeability, reduced trichome formation, and are female sterile
Abolishes the production of the ophiobolin family sesterterpenoid
Flies lacking sli exhibit disruption of the developing midline cells and the commissural axon pathways
Reduced expression of CYP83B1. Longer hypocotyls and increased lateral root formation
Cells display an aggregate-less phenotype
Cells lacking this gene exhibit a slight increase in OxdC accumulation under acidic growth conditions and a huge increase under nonstress growth conditions
Defects in plastid constriction leading to large and dumbbell-shaped chloroplasts in mesophyll-cell only (PubMed:29466386, PubMed:32005784). Sligthly larger division-competent chloroplasts in leaf epidermal pavement cells (PCs) with normal shapes (PubMed:29466386). A few stomatal guard cells (GCs) are missing chlorophyll-bearing plastids (chloroplasts) while accumulating minute chlorophyll-less plastids (PubMed:29466386). Reduced number of large chloroplasts in green tissues. Mostly normal vascular and epidermal chloroplasts and normal plastid size in non green tissues, sometimes exhibiting alteration in stromule length and frequency (e.g. increase in the frequency of stromules in cells of stamen filaments). Presence of highly clustered peroxisomes unable to complete fission and/or enlarged peroxisomes. Impaired peroxisome-related functions, such as photorespiration and fatty acid beta-oxidation
Leads to a slight reduction in the vegetative growth rate and delayed conidiation
Deletion of the gene affects the composition of the glycan N linked to the S-layer glycoprotein. Also affects the level of monosaccharide-modified dolichol phosphate. Mutants exhibit defective or limited motility
Plants do not show any changes in soluble amino acid content
Respiratory deficient phenotype: viable on glucose medium, but is inviable on non-fermentable carbon sources such as glycerol. Cells lack SDH activity due to a complete loss of FAD cofactor attachment of SDH1
Disruption of the gene results in biofilms with an altered mature structure but does not confer defects in growth or early biofilm formation, swimming or twitching motility
Abolishes the formation of phomopsin A
Increased sensitivity to lead ions (PubMed:18182029). Proembryo abortion in the double mutant lacking both SMO1-1 and ACBP1 associated with altered fatty acids (FAs) and sterols profiles (PubMed:28500265). Double mutants lacking SMO1-2 and ACBP1 are impaired in seed development, embryo sac development, male and female gamete transmission, and pollen function, as well as altered fatty acids (FAs) and sterols profiles (PubMed:29288621)
Results in increased levels of H/ACA box and C/D box snoRNAs
Flies are deficient in the induction of Defensin whether the infection was with a Gram-negative or Gram-positive micro-organism
Pale yellow flowers. Absence of neoxanthin and reduction by half of xanthophyll levels in petals
Male germ-cell-specific conditional knockout results in complete male infertility and meiotic arrest in spermatocytes (PubMed:27492080). Spermatocytes show impaired chromosomal synapsis and DNA double-strand breaks (DSB) repair and a significantly reduced expression of DSB repair-associated genes (PubMed:27492080)
Blocks the production of aspergillic acid or ferriaspergillin, but accumulates the intermediate deoxyaspergillic acid (PubMed:29674152)
Results in neurodegeneration in the central nervous system including degeneration of lamina and retina, defects in the fenestrated basement membrane, ommatidial disarray, locomotor defects and shortened lifespan (PubMed:26893370, PubMed:29739804). The phenotype is exacerbated in constant light conditions and improves in total darkness (PubMed:29739804). Effects are probably due to elevated levels of very long chain fatty acids (VLCFAs) (PubMed:29739804). Feeding the fly mutant with medium-chain fatty acids, blocks the accumulation of excess VLCFAs as well as development of the pathology (PubMed:29739804). Simultaneous knockout of bgm results in enhanced retinal degeneration and altered fatty acids metabolism (PubMed:26893370). RNAi-mediated knockdown in the adult results in reduction of triglycerides and altered neuronal function, including altered sleep rebound following sleep deprivation (PubMed:25409104)
Death at an early embryonic stage due to embryo resorption, starting about 8 days after fertilization
No obvious phenotype in growth, root and flower development, fertility, reproduction and morphology
RNAi-mediated knockdown results in embryonic lethality (PubMed:18202360). Disrupts proper hcp-3 localization on mitotic chromosomes indicating unresolved kinetochores and inhibits centromere resolution (PubMed:18202360). Causes a chromosome segregation defect during the first embryonic mitotic divisions without affecting cytokinesis (PubMed:20116245, PubMed:27707787, PubMed:23684975). Leads to increased localization of the condensin component capg-1 to the spindle midzone and the midbody and to chromatin bridges with enriched levels of capg-1 (PubMed:23684975). Increased levels of phosphorylated air-2 at the spindle midzone, indicating activation of the abscission checkpoint (PubMed:23684975). Leads to cleavage furrow regression and failed cytokinesis during the second embryonic division (PubMed:23684975). Results in lack of rad-51 foci formation which are indicative for DNA damage in Z2/Z3 primordial germ cells and leads to premature cell-cycle reentry of the Z2/Z3 cells in L1 stage larvae (PubMed:26073019)
RNAi-mediated knockdown results in sterility and the production of inviable embryos which are osmotically sensitive, exhibit nuclear rotation defects and irregular positioning of the mitotic spindle which is located towards the posterior or lateral cortex during anaphase (PubMed:23843623, PubMed:16971515). RNAi-mediated knockdown may also result in a reduced brood size and larval lethality (PubMed:23843623). RNAi-mediated knockdown disrupts the arrangement and differentiation of oocytes in the proximal region and as a result small oocyte-like cells arrange in several rows in the germline (PubMed:23843623). RNAi-mediated knockdown reduces the levels of ccf-1, but does not alter ccr-4 levels (PubMed:23843623). RNAi-mediated knockdown results in reduced global poly(A) tail deadenylation (PubMed:23843623). RNAi-mediated knockdown results in reduces degradation of nos-2 mRNA, impairs the recruitment of lsm-1 and decreases the number of patr-1-positive granules in somatic blastomeres (PubMed:18692039)
Disruption of the gene decreases uptake of cystine
Cells lacking this gene have decreased activities of the Fe-S cluster-dependent enzymes AcnA, LeuCD and IlvD, meaning a defect in the assembly of Fe-S proteins (PubMed:27517714). They are capable of growth in liquid chemically defined medium containing the 20 canonical amino acids (AA) and glucose as a carbon source, but display growth defects in defined medium lacking leucine and isoleucine (PubMed:27517714). In contrast, the deletion mutant strain is unable to grow upon the same 20 AA medium in solid form; supplementation of the solid 20 AA medium with lipoic acid fully corrects the growth of the mutant strain, and returning the sufT gene in trans also corrects growth in the absence of lipoic acid (PubMed:27671355). Further experimentation found that S.aureus growth upon solid chemically defined media was highly reliant upon the lipoamide-requiring enzymes pyruvate dehydrogenase (Pdh) and branched chain keto-acid dehydrogenase (Bck); the reliance upon Pdh and Bck for growth was decreased upon culture in liquid defined media (PubMed:27671355). A strain lacking SufT displays phenotypes consistent with decreased activities of multiple lipoamide-dependent enzymes (LipA, Pdh, Bck and Gcv) (PubMed:27671355)
Cells are more sensitive to mutagenic agents
No visible phenotype under normal growth conditions; due to the redundancy with other LOG proteins
Animals show severely disrupted circadian behavior. During myocardial ischemia, they have larger infarct sizes with deficient lactate production. Mice show reduced muscle strength under stress conditions, show endothelial dysfunctions and have a mean arterial pressure significantly lower compared to wild types. They have elevated circulatory insulin levels associated with enhanced glucose-stimulated insulin secretion and impaired insulin clearance. Animals also have increased levels of liver glycogen and impaired hepatic gluconeogenesis. They display altered lipid metabolism with drastic reduction of total triacylglycerides and non-esterified fatty acids. Double knockouts for PER2 and PER1 show an abrupt loss of rhythmicity immediately upon transfer to exposure to constant darkness. Animals have largely affected the water intake (polydipsia) and urine volume (polyuria). Double knocknouts for PER2 and PER3 show the same phenotype as PER2 simple knockouts. Double knockout for NR1D1 and PER2 show a significantly shorter period length compared with wild type or single knockouts for both genes. 50% of double knockouts animals show a stable circadian throughout at least 5 weeks in constant darkness. The other 50% of animals lose their circadian rhythmicity when held in constant darkness for an average of 21 days. Animals have blunted steady-state levels of glycogen in the liver in spite of normal patterns of food consumption
No visible phenotype under normal growth condition, but after exposure to Al, decreased levels of Al in root-cell sap, increased Al content in the cell wall and increased inhibition of root growth
Morpholino knockdown of the protein results in embryos with impaired function of motile cilia of the larval epidermis and majority of embryos develop edema around the heart
Loss of posterior body wall muscle contractions (pBoc), weak movement of tail, weak enteric muscle contractions, severe reduction in acidification of the pseudocoelom and slight constipation. Normal oscillatory Ca(2+) signaling in the intestine with unaffected defecation period and timing and normal locomotion
Male subfertility with a significantly decreased sperm count and motility (PubMed:30680919). Sperm shows increased irregular mitochondria lacking lamellar cristae, abnormal expression of electron transfer chain molecules, lower ATP levels, decreased mitochondrial membrane potential and increased apoptotic index (PubMed:30680919)
Cells lacking this gene have a decreased response to salt stress, indicating that RsbRA is a positive regulator of sigma-B activity. Its activity is dependent on RsbRB
Absence of outer row dynein and a reduced flagellar beat. Axonemal outer row dynein assembly is prevented by blocking association of heavy chains and intermediate chains in the cytoplasm
Deletion of the rnf operon abolishes growth on acetate and ferredoxin:heterodisulfide oxidoreductase-coupled Na(+) transport
No visible phenotype (PubMed:27532773, PubMed:27532772). Cells lacking BOL1 and BOL3 display defects in a subset of mitochondrial [4Fe-4S] enzymes (PubMed:27532772)
Cells synthesize a flagellar basal body, lacking the distal P and L rings
Low germination, slow growth, and late flowering, as well as partial sterile of both male and female gametes. Small, pale and round-shaped leaves. Impaired splicing of mitochondrial group-II introns-containing COX2, NAD1 and NAD7 transcripts (PubMed:19946041). Abnormal mitochondrial mor-phology, including low-density cristae (PubMed:22429648)
Mice show no defects in breeding or gross anatomy development, and they gained weight normally but exhibit a paucity of macrophages in the lungs (PubMed:24973458)
Following starvation, development proceeds normally only until the finger stage, when extremely long and thin fingers/slugs are produced. DimA and dimB double mutant has the same phenotype
Deletion mutant is partially attenuated during murine tuberculosis, but not during the chronic steps of infection. On day 28 post infection, shows a slight reduction of the bacterial burden, but on day 70, bacterial counts of the mutant are similar to the wild-type strain
Simultaneous knockdown of RNF43 and ZNRF3 results in ectopic limb development
Plants display early flowering and altered expression of genes involved in the photoperiod flowering pathway, such as ELF4, TOC1, CO and FT
Leads to a drastic reduction in the production of penicillin and its biosynthetic intermediates delta-(L-alpha-aminoadipyl-L-cysteinyl-D-valine) and isopenicillin N
Impairs growth on D-xylose as sole energy and carbon substrate
Isoform A mutant embryos show defects in the development of fore- and hindlimb innervation. Increased fasciculation and decreased branching of nerves innervating fore- and hindlimbs seen. Disturbances of the radial migration pattern of neuronal precursor cells seen in embryonic cortex (PubMed:20093372, PubMed:20573699). Isoform A mutants show increased density of blood vessels in postnatal brain, which is lost in adult brain (PubMed:23625008). Knockout mice for isoforms A and B are markedly hypotensive compared to control mice, with no significant increase of heart rate. They have mesenteric arteries thinner than controls (PubMed:26301690). Upon vascular injury mutants show markedly enhanced neointima formation and, in some cases, complete occlusion of the femoral artery (PubMed:15034570). Mutants for isoforms A and B show a marked reduction in neutrophil and monocyte recruitment to sites of inflammation (PubMed:21183689). Mutants for isoforms A and B are insensitive to stimulation with TLR9, TLR3 and TLR7 ligands (PubMed:25917084). Mutant mice for isoform C display improved cardiac function, smaller infarct area and less apoptotic cells after myocardial infarction (PubMed:27763637). Knockout mice show impaired responses to tissue injury (PubMed:19805174)
When associated with the disruption of CDS5, requires sucrose (Suc) treatment to grow. Pale yellow-green leaves with reduced chlorophyll levels but an increased chlorophyll a/b ratio. Reduced plastidial phosphatidylglycerol (PG) biosynthesis leading to abnormal thylakoid membrane development
Various epidermal defects, including disorganization of epidermis-related tissues, defects in the leaf cuticle and the fusion of organs
No apparent phenotype. Double mutant cnk-1 and lin-45 and double mutant cnk-1 and ksr-1 show high lethality in the first larval stage, filling with fluid and with a rod-like appearance due to loss of the excretory duct. Double mutant cnk-1 and lin-45 also shows P12 to P11 cell fate transformations
Results in dramatic reduction in MPA production
Embryonic lethality at about 13 dpc, due to failure of remodeling of the yolk sac capillary network and defects in remodeling and maturation of primary vascular networks
Impairs the production of griseofulvin, but accumulates the intermediates desmethyl-dechlorogriseofulvin, desmethyl- dehydrogriseofulvin A and desmethyl-griseofulvin (PubMed:23978092)
Deletion of algL is lethal, and microscopic examination of the cells reveals that alginate or a precursor accumulates in the periplasmic space until the cells burst
Knockout mutant can still grow on minimal agar plates containing gentisate as the sole carbon source but GDO activity cannot be detected in uninduced cells
Impairs the red pigmentation due to the production of fusarubin (PubMed:22492438). Results in complete down-regulation of the other five FSR genes (PubMed:22492438)
Enlarged lysosomes (PubMed:21613545). Reduced brood size (PubMed:21613545). Egg-laying defect, slow, but coordinated locomotion, and reduced levels of unprocessed and processed cargo in the motor neuron axon of the dorsal nerve cord (PubMed:27191843)
Viable on standard food, but sensitive to a carbohydrate-only diet, with rapid lethality after transfer to a sucrose medium
Deletion of the yxiB-yxiC-yxiD-yxxD-yxxE operon has no visible growth phenotype, however it is out-competed by wild-type cells
Embryonic lethality with death occurring in utero around 9.5 dpc (PubMed:29374072). Embryos display defects in vascular development and hematopoiesis and increased protein levels of Flna in the heart (PubMed:29374072). Conditional knockout in the whole heart and in the first heart field results in pericardial edema and embryonic lethality (PubMed:32179481). Conditional knockout in the embryonic heart results in impaired heart looping, abnormal expression of Flna expression which is expanded to include the myocardial layer and increased expression of Smad2 (PubMed:32179481)
Conditional knockout in hematopoietic stem and progenitor cells results in increased protein levels of Flna and Flnb in immature dendritic cells (PubMed:23632887). Conditional knockout in hematopoietic cells reduces tumor development in a mouse model of colitis-associated tumorigenesis with reduced numbers of T helper type 2 (Th2) cells and regulatory T (Treg) cells and increased numbers of type 1 helper T (Th1) cells and T helper 17 (Th17) cells in the colonic mucosa of tumor-bearing mice (PubMed:31175139)
Delayed flowering. Increased tolerance to salt stress
Defective spindle orientation, oogenesis defects and reduced embryo production with ectopic mei-1 localization (PubMed:19786575). Derepression of zif-1 in oocytes (PubMed:20826530). Hermaphrodites are sterile with gonads that are normal in size but display a bulbous shape in the distal region. When grown at 20 degrees Celsius, mutants display a mildly disorganized meiotic progression and contain a mixture of oocytes in diakinesis and pachytene stages in the proximal gonad. When grown at 25 degrees Celsius, 14% of mutants show a bifurcation of the gonad shortly after the transition zone. Strong masculinization of the germline (MOG) phenotype with 48% of mutants containing a mixture of sperm and oocytes in the proximal gonad and 25% containing only sperm. Failure of cgh-1 and car-1 to localize to P granules. Failure of pgh-1 to localize to P granules in 60% of mutants which may be due to the mislocalization of cgh-1 or car-1. Defective P granule formation (PubMed:23264733)
RNAi-mediated knockdown in the ovaries, results in lower DNA content in the nurse cells and defective development of egg chambers (PubMed:27198229). Simultaneous knockdown of elg1 and enok, results in relatively bigger and higher DNA content than single elg1 knockdown (PubMed:27198229). Further, egg chambers in ~25% of the ovarioles are able to develop beyond stage 9 with morphologically normal nurse cells (PubMed:27198229)
Impairs the production of fusaric acid (PubMed:26662839)
Cells are viable and do not display growth defects. They however show reduced sulfatase activity
Abolishes the production of cercosporin
No visible phenotype under normal growth conditions, but plants lacking KDTA accumulate high levels of tetraacyldisaccharide 1,4'-bis-phosphate (lipid IVA)
Disruption decreases genetic competence by about 50%, significant loss of expression of ComGC, no effect on sporulation. A double spoIIIJ-yqjG deletion is lethal
Binding of spermatozoa to the zona pellucida is significantly reduced in vitro, however oocyte fertilization was still able to occur
Fully eliminates the production of asperlin
Dramatic defect in endodermal barrier formation leading to altered potassium ion (K) homeostasis and hypersensitivity to low potassium conditions. Casparian strips are repeatedly interrupted, forming irregularly-sized holes of several micrometer in length, probably due to abnormal CASP proteins patterning. Suppresses the enhanced suberin production when combined to other Casparian strip-defective mutants such as esb1 and casp1 casp3. Extremely sensitive to changes in environmental conditions such as high temperatures and under long-day (LD) conditions leading to dwarf plants. Normal transpiration but altered water transport and root pressure (PubMed:25233277). No visible phenotype during embryogenesis and seedling development. Gso1 and gso2 double mutants produce slightly contorted seeds, with abnormally shaped embryos and seedlings; adhesion between cotyledons and the peripheral tissue of the endosperm, short hypocotyl, and concave cotyledons sometimes fused, with compressed epidermal cells, endosperm tissue partially adherent to the surface of the cotyledons, and a rough surface. In addition, seedlings of gso1 gso2 have also root growth and patterning defects characterized by abnormal numbers of cells in longitudinal files and radial cell layers, as well as aberrant stem cell division planes. Root growth arrest and cell divisions defects are rescued by exogenous application of sucrose, but not patterning defects (PubMed:24123341). The double mutant gso1 gso2 exhibits a repeatedly interrupted, discontinuous Casparian strip due to patch-like localization of the CASPs proteins as a result of partial fusion of individual CASP containing islands in the Casparian strip membrane domain (CSD) (PubMed:28104889)
Deletion mice show reduced nociceptive sensitivity compared to control mice in models of inflammatory and nerve injury-induced pain when associated with IL1B deletion
Homozygous knockout of dgkd is lethal (PubMed:17021016). Fetuses are smaller and newborn mice develop respiratory difficulty and die within 24 hours after birth (PubMed:17021016). They show an abnormal open-eyelids phenotype which is associated with significant reduction of the expression of the EGF receptor/EGFR in the basal layer of the epidermis (PubMed:17021016)
Reduced sensitivity to indole-3-acetonitrile
Cells lacking this gene require cytidine for growth, proving that in L.lactis, the pyrG product is the only enzyme responsible for the amination of UTP to CTP
Cells display unusually rapid development, characterized by precocious aggregation into multicellular aggregates, and completely lack mono-, di- and trimethylation of H3K4 ('Lys-5' of histone 3). Cells also induce premature differentiation
TRIM50-deficient mice show a significantly prolonged survival time when LPS-challenged when compared with wild-type mice. TRIM50 deficiency also significantly ameliorates NLRP3-mediated inflammation and tissue damage in vivo
In contrast to other bacteria, in which inactivation of serine protease leads to thermosensitivity, inactivation of HtrB leads to an increased thermotolerance and an increased tolerance to hydrogen peroxide. Inactivation of both HtrA and HtrB leads to growth defects and to thermosensitivity
Enhanced susceptibility to several bacterial pathogens and alterations in PR-1 gene expression (PubMed:9090877). No salicylic acid (SA) accumulation after pathogen inoculation and more susceptibility to both virulent and avirulent forms of Pseudomonas syringae and Peronospora parasitica (PubMed:10449575, PubMed:24594657). Age-related resistance (ARR)-defective (PubMed:11884688, PubMed:19694953). Defect in stomatal response during bacterial infection (PubMed:21998587)
3-fold decreased ubiquinone levels but no change in redox levels of the ubiquinone pool (in aerobically grown minimal medium with glucose)
Defects lead to a better tolerance of UV-B irradiation due to the increase in sinapate ester accumulation
Proteolysis of PbpB (PBP3, FtsI) upon oxidative stress in depletion experiments; degradation is prevented by overexpression of Wag31 but not the 46-Asn--Asp-48 deletion
Deletion mutant displays a diminished ability to synthesize acyl-coenzyme A in cell-free extracts. Deletion of the gene results in a significant decrease in the accumulation of intracellular triacylglycerol (TAG) in Mycobacterium under dormancy-inducing conditions in vitro
Reduced pollen activity and germination rate leading to a decreased male transmission efficiency (PubMed:27872247). The double mutant a36 a39 produces inviable pollen which undergoes apoptosis-like programmed cell death, exhibits a compromised pollen tubes micropylar guidance and has degenerated female gametes (PubMed:27872247). The double mutant a36 a39 accumulates abnormally highly methylesterified homogalacturonans and xyloglucans in the apical pollen tube wall (PubMed:27872247)
Abolishes localization of HIR1 and RTT106 to the HTA1-HTB1 promoter
Disruption results in low transformability
Cells lacking this gene almost lose the ability to grow on 2SC as the sulfur source but are still able to grow on sulfate. Moreover, they show a massive accumulation of N-acetyl-S-(2-succino)cysteine when S2C is added to the medium
Enhances phenotypes of the lhp1-3 mutant, thus leading to reduced plant size, early flowering in all photoperiod conditions and altered leaf morphology, associated with an increased expression of H3K27me3-positive genes
Results in growth defects in procyclic forms (PCF) and changes in acidocalcisome morphology and number. The mean number of acidocalcisomes drops by approximately 2-fold, but individual acidocalcisomes are considerably larger and less circular. Also affects cellular polyP and PPi content. Short chain polyP drops almost 2-fold, while PPi nearly doubles
Homozygous knockout rats are born to expected Mendelian ratios and no obvious ocular phenotype is observed
Magnetite crystals are elongated and their surface structure is altered (PubMed:24961165). Another deletion missing both mamD and a 25 kb region of the magnetsome island locus (called SID25) gives dumbbell-shaped magnetite crystals (PubMed:24961165, PubMed:27417732). Deletion of the probable mamGFDC operon leads to a slight reduction in magnetic response and slightly narrower magnetite crystals (PubMed:22716969)
Male mice are sterile due to defects in male meiosis, piRNA production defects, DNA demethylation of LINE-1 (L1) transposable elements and an increase in L1 expression in the adult testis. Mutants have severely reduced levels of mature piRNAs and accumulate 1'U-containing, 2'O-methylated 31-37 nt RNAs that complement the missing mature piRNAs
Altered mitochondria morphology leading to the presence of several big mitochondria with a round shape (PubMed:26898467). Altered lipid homeostasis; reduced levels of digalactosyldiacylglycerol (DGDG) in the mitochondrial transmembrane lipoprotein (MTL) complex during phosphate (Pi) starvation, associated with the accumulation of phosphatidylethanolamine (PE) in mitochondrion (PubMed:26898467)
Fishes lacking both slc25a38a and slc25a38b display anemia
No visible phenotype. Hippocampus slices from mutant mice show minor differences in the amplitude of miniature inhibitory postsynaptic currents, and somewhat slower decay times
Plants display a massive pollen development arrest due to a perturbed degeneration of the tapetum, which is associated with altered endoplasmic reticulum profiles and reduced secretion. Defects correlate with several fatty acid composition changes in flower tissues and seeds. However, no significant change in seed oil content is observed
Impairs the production of fusaric acid, but leads to the accumulation of trans-2-hexenal (PubMed:26662839)
Displays a weak budding pattern phenotype in a systematic assay
Retarded growth and reduced mechanical strength (brittleness) due to reduced cell wall thickness in sclerenchyma and bundle sheath fiber cells
Mutants are impaired in lysine utilization and show a slight reduction in the root colonization capacity
Lipid A retains the 1-phosphate group; none of the lipid A species have the usual phosphoethanolamine residue at the 1-position as the enzyme responsible (EptA) cannot act on a phosphorylated residue. In strain 26695 95% is hexaacylated (16 to 18 carbons in length) with both 1- and 4'-phosphate groups, 5% is tetraacylated with only 1-phosphate. In 4 other strains (Cp20-84, Hp7-91, Hsp110-93 and J99) only the 1-phosphate tetraacylated species is seen. Over 1250-fold decrease (strain 26695) or 10-fold decrease (strain Hp7-91) in resistance to cationic antimicrobial peptide (CAMP) polymyxin B (PMB); strain 26695 is probably more sensitive because it has a more negatively charged cell surface and thus binds more CAMP. In strain Hp7-91 upon exposure to PMB the cells round into a coccoid form, the outer membrane forms ruffles, invaginates and in some cases the periplasmic region increases in volume
Morpholino knockdown severely impairs cranial nerve development, with shorter or missing cranial ganglia and reduced nerve arborization (PubMed:24044555). Neural crest migration is impaired, although neural crest induction is not significantly affected (PubMed:28104388). Brain size is reduced and cranial cartilage development is severely disrupted, leading to smaller head size (PubMed:28104388). Eyes are smaller and deformed, with coloboma formation and disrupted retinal lamination (PubMed:28104388). In eye, expression of the genes rax, pax6 and otx2 is reduced (PubMed:28104388). In brain, expression of the genes emx1, pax6, otx2, en2 and egr2 is reduced (PubMed:28104388). Tissues show increased apoptosis and reduced cell proliferation (PubMed:28104388)
In glip2, enhanced auxin responses, and higher susceptibility to E.carotovora
Seedling lethality due to deficiency in chloroplast development
Embryos die at birth and lack most head structures anterior to the midbrain, including the eyes and nose (PubMed:12569128). Embryonic SHH and SIX3 double heterozygous mice exhibit a semilobar holoprosencephaly-like phenotype and a dorsoventral patterning defects in telencephalon (PubMed:18694563). Embryonic WNT1 and SIX3 double homozygous mice lack cerebellum and colliculus and have a severely reduced midbrain (PubMed:18094027). Conditional knockout in eye exhibit drastically reduced lens size, cataracts, or absence of the lens (PubMed:17066077). Embryo of SIX3 and HESX1 heterozygous mice exhibit severe growth retardation after weaning, with additional gonadal and thyroid gland defects, resulting in a lethal phenotype (PubMed:18775421)
Does not affect growth on L-arabinose and L-xylulose reductase activity remains unaltered whereas D-mannitol 2-dehydrogenase activity is reduced. Deletion does neither affect the germination process nor the hyphal morphology. Only during later stages mannitol levels are slightly lower
Impairs the production of herqueinone, but accumulates phenalenone
Impaired disease resistance responses
No visible phenotype. Reduced levels of total sugars (glucose and trehalose) in normal-fed flies and increased susceptibility to starvation. Life span is increased when fed a low-calorie diet and flies gain less weight when fed a high-calorie diet. Females lay a lower proportion of eggs, particularly under a restricted diet. Glycogen and triacylglyceride (TAG) levels are not affected in normal-fed flies. However, TAG levels decrease at a faster rate under starvation conditions. No increase in life span when fed a high-calorie diet or under starvation conditions
Deletion mutant cannot form dihydroceramide (PubMed:33063925). Deletion of the gene results in a ceramide molecule with a mass reduction of 2 Da, corresponding to a loss of two hydrogens (PubMed:34969973). Mutants are impaired in growth at elevated temperatures but are resistant towards the antibiotic polymyxin B (PubMed:33063925)
Cells lacking this gene are unable to transform isopropylamine to L-alaninol
A triple higB1-higA1-Rv1957 disruption mutant has no visible phenotype. A single deletion in this gene cannot be made, suggesting that it has antitoxin activity
Lethality caused by neurodegeneration and synaptic defects
Causes defects in the proliferation of brain neuroblasts and results in the absence of identified neuronal lineages in the central and peripheral nervous systems (PubMed:2044955). During embryonic Malpighian morphogenesis, most of the cells of the Malpighian tubules fail to undergo rearrangement to form tubes with a two cell circumference. Only cells at the distal end of the tubule rearrange (PubMed:10502111)
RNAi-mediated knockdown at the L1 larval stage causes cuticle rupture, mostly through the vulva, and results in lethality in 50 to 80% of animals upon reaching adulthood (PubMed:23840591). Most surviving animals that reach adulthood are sterile due to embryonic lethality, and in over 90% of surviving animals there is an accumulation of vacuole-like structures in the body cavity (PubMed:23840591). The few larvae that hatch have severe cuticle formation abnormalities (PubMed:23840591). RNAi-mediated knockdown at the L2 or L3 larval stage, results in reduced lethality in response to oxidative stress induced by paraquat compared to wild-type (PubMed:25190516). RNAi-mediated knockdown at the L2 or L3 larval stage, results in enlarged mitochondria which are interconnected by thin membrane tubes in maturing oocytes (PubMed:25190516). RNAi-mediated knockdown at the L4 larval stage, results in impaired body bend movements, and disorganization of the mitochondrial network and increased connections between mitochondria in body wall muscle cells (PubMed:25190516). RNAi-mediated knockdown at the L3 or L4 larval stage, results in the normal production and fertilization of oocytes, but 60 to 70% of the fertilized oocytes are embryonic lethal (PubMed:23840591). Arrested eggs from these animals have disintegrated egg shells, which results in a mass of cells and membranes in the gonad (PubMed:23840591). While 30% of fertilized oocytes display defects in meiosis, with the extrusion of the second polar body during anaphase II often failing (PubMed:23840591). Furthermore, 30% of fertilized oocytes have cytokinesis defects (PubMed:23840591). RNAi-mediated knockdown at the L3 or L4 larval stage, results in defects in Golgi apparatus organization with small Golgi apparatus foci aggregating in large structures around the nuclear membrane and cell periphery in oocytes, and small vesicles accumulating at the endoplasmic reticulum-Golgi interface (PubMed:23840591). RNAi-mediated knockdown at the L3 or L4 larval stage, results in endoplasmic reticulum morphology defects with the absence of endoplasmic reticulum lumen in oocytes (PubMed:23840591). RNAi-mediated knockdown at the L3 or L4 larval stage, results in defective cav-1 transport from the Golgi apparatus to the plasma membrane in oocytes, and an accumulation of the yolk protein vit-2 in intestinal cells and in the body cavity (PubMed:23840591). RNAi-mediated knockdown at the L3 or L4 larval stage also results in defects in the endosomal pathway with reduced expression of the early endosomal protein rab-5 in the intestine (PubMed:23840591). RNAi-mediated knockdown results in the mis-localization of the serine threonine protein kinase sgk-1 in intestinal cells (PubMed:26115433)
Approximately 50% of mice die until day 28 of postnatal development (P28). Mice that survive beyond P28 are indistinguishable at birth, but show a progressive corneal dystrophy, associated with an epithelial hyperplasia and an altered corneal epithelial cell differentiation
Cells lacking this gene accumulate aklanonate
Does not affect growth on glycolate or glyoxylate
Does not affect the production of oxopyrrolidines A and B
Rough phenotype, with an aberrant O-antigen profile. Mutants exhibit a reduced ability to colonize mouse spleens but are still capable of producing a persistent infection, albeit with a low bacterial burden
No visible phenotype. Quintuple knockout with cnnm-1, cnnm-2, cnnm-3 and cnnm-5 results in a reduced lifespan and 100% sterility
Growth is impaired on 1,2-PD minimal medium supplemented with cobyric acid, but is restored on similar medium supplemented with vitamin B12, cobinamide (PubMed:18308727). A double pduW-pduX deletion grows as well as wild-type on 1,2-PD (PubMed:12700259)
Lethality in 63% of embryos
Deletion leads to a 75% loss of internalization of P.aeruginosa into host cell
Cells are unable to aggregate on bacterial lawns and show impaired chemotaxis, rounded morphology and lack polarity. Phosphorylations of endogenous pkbA/PKB substrates greatly reduced including loss of phosphorylation at 'Thr-470' in endogenous pkgB. In null cells neither chemoattractant stimulation of intact cells nor guanosine gamma thio-phosphate treatment of lysates activates the enzyme adenylyl cyclase. Constitutive expression of piaA reverses these defects. dagA and piaA double mutants require both proteins for reconstitution and activation of adenylyl cyclase. Null cells can respond to exogenous signals by expression of developmental genes necessary for spore formation, although the efficiency of the process is reduced. Null cells possess the machinery to respond to cAMP signals. However, they are unable to aggregate in pure populations suggesting that the defect may be in the production of the cAMP signals
Mutant is very sensitive to copper after copper shock (PubMed:12442888). Causes a moderate defect in aerobic growth on CuSO(4), strongly impairs survival during anaerobic growth on CuSO(4) (PubMed:17768242)
RNAi-mediated knockdown is semi-pupal lethal, with 50% of pupae dying at the late pupal stage or during eclosion (PubMed:16861233). Adults display impaired melanization at the site of septic infection (septic injury) using either Gram-negative (E.coli) or Gram-positive bacteria (M.luteus) (PubMed:16861233). No significant increase in PPO1 activity after septic injury using fungi (B.bassiana) and bacteria (PubMed:16861233). Survival and induction of antimicrobial peptides (Dpt and Drs) is not affected after bacterial or fungal infection (PubMed:16861233). Aseptic wounding has no effect on survival (PubMed:22227521)
Impaired response to the ovular attractant LURE1.2
No visible phenotype, probably due to redundancy with MADS6
Viable, with no gross anatomy or growth defects observed (PubMed:22916205). Localization of aat-6 at the intestinal apical cell membrane diminishes as animals age, and eventually aat-6 becomes diffusely dispersed in the cytoplasm (PubMed:22916205). RNAi-mediated knockdown in a pept-1 (lg601) mutant background results in a reduced number of progeny (PubMed:30560135)
No visible phenotype during embryogenesis and seedling development. Arrested at two-nuclear stage and unfused polar nuclei. Gso1 and gso2 double mutants produce slightly contorted seeds, with abnormally shaped embryos and seedlings; adhesion between cotyledons and the peripheral tissue of the endosperm, short hypocotyl, and concave cotyledons sometimes fused, with compressed epidermal cells, endosperm tissue partially adherent to the surface of the cotyledons, and a rough surface. In addition, seedlings of gso1 gso2 have also root growth and patterning defects characterized by abnormal numbers of cells in longitudinal files and radial cell layers, as well as aberrant stem cell division planes. Root growth arrest and cell divisions defects are rescued by exogenous application of sucrose, but not patterning defects (PubMed:24123341). The double mutant gso1 gso2 exhibits a repeatedly interrupted, discontinuous Casparian strip due to patch-like localization of the CASPs proteins (PubMed:28104889)
In larvae infected with Gram-positive bacteria, fails to induce the expression of the Toll pathway-activated anti-fungal peptide Drs (PubMed:26843333). siRNA-mediated knockdown results in increased susceptibility to fungal and Gram-positive bacterial infections, failure to cleave spz and to induce the expression of the antifungal peptide Drs (PubMed:16399077, PubMed:16996061). RNAi-mediated knockdown in the fat body causes increased susceptibility to fungal and Gram-positive bacterial infections and failure to induce the expression of the antifungal peptide Drs (PubMed:16631589)
Null mice are viable, fertile and have a normal life span. Toal serine exchange is reduced up to 85%, but apart from in liver, the phosphatatidylserine content was unaltered. Elimination of either Pss1 or Pss2, but not both, is compatible with mouse viability. Mice can tolerate as little as 10% serine-exchange activity and are viable with small amounts of phosphatidylserine and phosphatidylethanolamine content. to phosphatidylethanolamine
Mutant mice exhibit grossly normal appearance, activity and behavior. Plasma sodium, potassium, chloride, bicarbonate and creatinine concentrations, as well as hematocrit, are similar to wild type animals. Urea permeability in erythrocytes is 45-fold lower than that from wild-type mice. Daily urine output is 1.5-fold greater and urine osmolarity is lower than in wild-type mice. After 24 hours of water deprivation, plasma urea concentration is 30% higher and urine urea concentration 35% lower in mutant mice than in wild-type animals. Mice lacking both Aqp1 and Slc14a1 are born at the expected Mendelian ratio, but do not thrive; half of them die within ten days after birth and none are alive after two weeks. Urine osmolality is somewhat lower than that observed with mice lacking Aqp1. Besides, erythrocyte water permeability is significantly lower than in mice lacking only Aqp1
Leads to the loss of pyrichalasin H production, but still produces deacetylated pyrichalasin H
RNAi-mediated knockdown results in late stage embryonic and larval lethality, slow growth and pharyngeal pumping, uncoordinated movement, reduced brood size, middle body constriction, and muscle detachment (PubMed:15469912, PubMed:29137240). RNAi-mediated knockdown in L1 larvae causes incomplete cuticle shedding during molting (PubMed:15469912)
Impaired pollen tube growth
Mice are born at the expected Mendelian rate. No visible phenotype
Loss of DNA conjugation when disrupted in recipient strain, strain does not secrete EsxB (PubMed:18554329)
Sensitive to high hydrostatic pressure (mechanical stress)
Morpholino knockdown of the protein causes pericardial edema, retracted glomerulus in an enlarged Bowman's capsule and glomerular permeability defects
Impairs the production of sterigmatocystin and leads to the accumulation of versicolorin A
Decreased sister chromatid alignment along arms in tetraploid cells (4C) nuclei and impaired sister centromere cohesion, associated with a high frequency of anaphases with bridges. Slightly slower development leading to delayed flowering
Insertion mutant exhibits normal UPRTase activity and cytosine uptake, but defective uracil uptake
Abnormal meiosis
No visible phenotype under normal growth condition
No effect on growth behavior, leaf coloration, grana stacks or photochemical efficiency of photosystem II. Curt1a, curt1b, curt1c and curt1d quadruple mutant shows disorganized thylakoids with extended stretches of unstacked membranes and broader stacks made up of fewer layers
Mice die prior to E8.5
Rga, gai, rgl1, rgl2 and rgl3 pentuple mutant displays constitutive GA responses even in the absence of GA treatment
A homozygous disruption strain was not identified, suggesting this gene may be essential
Results in strong reduction of Ndg accumulation at the basement membrane in the gut, muscles and ventral nerve cord (PubMed:30260959). RNAi-mediated knockdown in the larvae reduces Ndg accumulation and created holes in the basal membrane of fat bodies (PubMed:30260959)
Almost no mature crRNA or tracrRNA produced. Loss of CRISPR interference during plasmid transformation
Inactivation of the gene results in growth defects and incomplete auxotrophy of the mutant due to a deficiency in histidine synthesis. The growth defect of the mutant is rescued by expressing hisN from C.glutamicum
RNAi-mediated knockdown causes early larval arrest. In adults, results in no obvious phenotype
Eliminates approximately 40% of aspercryptin production (PubMed:26563584)
Leads to reduced virulence (PubMed:23266949, PubMed:30804501). Results in a substantial increase of fusaoctaxin A, and abolishes the production of fusapentaxin A and fusatrixin A (PubMed:31100892)
Normal growth but mice are fully infertile with barely detectable ovaries and testes at adulthood. Complete absence of follicles in the ovaries and spermatozoon in the seminiferous tubules and epidymides. In testis, approximately 60% of the tubules contain spermatocytes arrested early in meiosis prophase I, the rest contains only spermatogonia. Testes completely lack postmeiotic germ cells, and are depleted for meiotic germ cells. In some individuals, germ cells does not progress past preleptotene, while in others, germ cells advanced to the zygotene stage of meiotic prophase (PubMed:28380054)
Homozygous mice for Letmd1 gene are born at normal Mendelian ratios, with normal morphology, bodyweight and body composition at 2-months old (PubMed:34669999). Mice could not tolerate cold exposure without food (PubMed:34669999). Mutants exhibit impaired thermogenesis and are prone to diet-induced obesity and defective glucose disposal (PubMed:34910916)
Loss of restriction enzyme activity
Decreased abscisic acid (ABA) sensitivity during seed germination and seedling growth (PubMed:26163700). Abnormal mitochondria extensively internally vacuolated and characterized by a reduced ABA-stimulated reactive oxygen species (ROS) production associated with the inhibition of ABA-induced AOX1a and ABI4 gene expression (PubMed:26163700)
Homozygous deficiency causes placental insufficiency and embryonic lethality between 9.5 and 11.5 dpc
No obvious growth phenotype under standard growth conditions (PubMed:23071642, PubMed:23204503). The bat1-1 mutant exhibits longer stems before flowering, but reaches normal height after flowering, with larger inflorescence stems containing an increased number of vascular bundles (PubMed:23020607)
Not required for aerobic growth on ethanolamine (EA) supplemented with cobalamin (vitamin B12). A quadruple eutP-eutQ-eutT-eutD deletion is also not required for growth in the above conditions (PubMed:10464203). A non-polar deletion mutant grows on EA from pH 5.5 to pH 8.0, but does not grow at pH 8.5, releases slightly increased amounts of acetaldehyde on EA plus vitamin B12 (PubMed:16585748). No visible phenotype when grown on EA and tetrathionate under anoxic conditions (PubMed:26448059)
Mice develop adult-onset ataxia with cerebellar Purkinje cell loss. Affected cells have intracellular protein accumulations in the endoplasmic reticulum and the nucleus
Mutant flies show temperature-sensitive lethality. Prior to cellularization many embryos display signs of incomplete chromosome segregation during mitotic divisions likely due to defective organization of spindle microtubules
Cells form smooth plaques on bacterial lawns, produce abnormally small fruiting bodies and display reduced migration towards the cAMP source in chemotactic assays. Analysis of cell motion in cAMP gradients reveals decreased speed suggesting a defect in the cellular machinery for motility. Cells exhibit changes in the actin cytoskeleton, showing aberrant distribution of F-actin in fluorescence cell staining and an increased amount of cytoskeleton associated actin. There is also excessive pseudopod formation. Expressing cosA or it's human counterpart restores wild-type like cAMP chemotaxis response
No visible phenotype (PubMed:28936218). Altered mitochondrial protein stability (PubMed:25862457)
Leads to reduced formation of conidia (PubMed:24632440)
Knockout are lethal at embryonic stage (PubMed:28100772). Conditional knockouts specific to the adipose tissue develop adipose tissue but exhibit a striking age dependent loss of adipose tissue accompanied by evidence of adipocyte death, increased macrophage infiltration and tissue fibrosis. They also have elevated fasting blood glucose, fatty liver and insulin resistance. They show a significant reduction of total sphingomyelin levels in the adipose tissue (PubMed:28100772)
RNAi-mediated knockdown results in sterility due to the loss of oocyte fertilization
Mutant males display robust courtship behavior in the presence of CH503-perfumed females
Morpholino knockdown results in embryos with small eyes, head, and brain structures
Death during embryogenesis. Weaker mutants (se-1, se-2 and se-3) also exist. Mutant se-1 displays defects in shoot and leaf development. Mutants se-2 and se-3 show adaxial leaf curling, loss of asymmetric differentiation of abaxial and adaxial cell types and development of trumpet-shaped or radial leaves. Vascular polarity of se-3 leaves is also perturbed, with xylem elements forming both adaxially and abaxially in the vascular bundle
Mutants are viable but show oogenesis defects (PubMed:26494711). They also display up-regulation of transposable elements with loss of transposon H3K9 methylation and sterility in female flies (PubMed:26472911, PubMed:26494711). No effect on the abundance or content of piRNA populations or on the nuclear localization of piwi (PubMed:26472911, PubMed:26494711). RNAi-mediated knockdown in the germline increases transposon expression and impairs nuclear localization of nxf2 in nurse cells by reducing its stability (PubMed:31570835, PubMed:31219034)
Knockout Letm1 homozygous mice show embryonic lethality before day E6.5 and around 50% of the heterozygotes die before day E13.5 (PubMed:23716663). Surviving mice show reduced mitochondrial calcium uptake, impaired mitochondrial ATP generation capacity, disrupted early embryonic development, altered glucose metabolism and increased susceptibility to seizures (PubMed:23716663)
Impairs the production of fumonisins (PubMed:17483290)
Females show no effects on puberty onset, estrous cyclicity and body weight. They have increased litter sizes relative to wild-type with normal litter frequency. Females ovulate more eggs in natural cycles with increased uterine implantation sites. They have increased numbers of antral follicles and corpora lutea (PubMed:34910520). Double knockout females for TGFBR3L and gonadotrope-specific TGFBR3 are infertile. They have increased serum follicle-stimulating hormone (FSH), pituitary protein content relative to controls. They have larger ovaries with increased numbers of antral follicles and corpora lutea (PubMed:34910520)
Results in loss of mitochondrial DNA. Causes a significant slow growth phenotype under normal growth conditions (glucose) and a reduced chronological life-span (CLS). Growth on a non-fermentable carbon source (gylcerol) is absent
Leads to caspofungin hypersensitivity and increases filamentation
Extended lifespan in adults
Up-regulates expression of liaI which in turn induces the liaRS two-component regulatory system
Knockout, in a flh-2 mutant background, causes poor coordination, egg-laying defects and dumpy appearance (PubMed:18794349). Causes a ninefold to 10-fold decrease in lin-14 level in embryos and about 2-fold increase in the levels of micro-RNAs lin-4 and mir-241 (PubMed:18794349). Despite the increase in lin-4 expression, post-embryonic heterochronic defects are not observed (PubMed:18794349). RNAi-mediated knockdown causes precocious embryonic expression of micro-RNA lin-4, exacerbated by simultaneous RNAi-mediated knockdown of flh-2 (PubMed:18794349)
Two-fold reduction in expression of LSO1
None seen. An isbE overproducing strain cannot be made in the absence of the sibE gene
Mice display increased arterial blood pressure which is dietary salt intake independent (PubMed:8760210). During pregnancy, increased blood pressure is observed, leading to late gestational proteinuria and smaller litters (PubMed:22437503). Impaired trophoblast invasion and smaller spiral arteries are also observed in 12.5 dpc embryos (PubMed:22437503). In 18.5 dpc embryos, mice display fewer trophoblasts and smaller arteries in the decidua and myometrium than those in wild-type mice (PubMed:22437503)
Deletion does not affect the growth enhancement observed in the presence of high L-arginine in different growth media, and uptake activities are slightly reduced
Impairs growth when acetate or ethanol are the sole carbon source. Leads to reduced chronological lifespan
Deficient mice fail to maintain anterior-posterior polarity, resulting in abnormal dorsal-ventral polarity of the somites. Mutant mice display neonatal lethality and abnormal morphology of vertebrae, ribs, spinal nerves and coronary vessels. Besides, mutant mice develop anomalies of the urinary tract, including hydroureter and hydronephrosis
RNAi-mediated knock-down results high embryonic lethality (PubMed:11390355). F1 worms have an extended lifespan, an increased incidence of males phenotype and improved survival to toxic oxidative stress (PubMed:11390355). Worms have defective meiotic chromosome cohesion and chromatid segregation (PubMed:12827206, PubMed:11390355)
RNAi-mediated knockdown in the germline increases transposon expression
Significantly reduces vegetative growth and conidiation, but no difference in germination and appressorium formation compared to wild-type. Significantly reduces virulence
Deficient mice display abnormal thyroid hormone metabolism with no apparent neurological phenotype
Accumulated 12S globulin precursors in seeds
Ala6 and ala7 double mutants are hypersensitive to temperature stress and are impaired in pollen fitness with an altered lipid composition and short and slow pollen tubes
Pillar tree (erect shoot growth) phenotype
Plants develop a brittle culm (bc) phenotype with a reduction of up to 75% percent of cellulose content in culm
Reduced trichome production on cauline leaves, stem branches and sepals
Decreases virulence in Zea mays
Larvae lethal (PubMed:16556608, PubMed:20386952). Larvae die around the first molt at the first or second instar stage (PubMed:16556608)
Mutant mice show defects in circadian gene expression and jet lag phenotype, but the master clock is not strongly affected. Per2 expression is rhythmic, but Per1 expression becomes nearly arrhythmic as well as Per1 target genes, such as Dbp. No splicing alteration was observed in the brain. Mutant mice show a faster adaptation to experimental jet lag, which is consistent with the circadian splicing switch providing a buffering system against sudden light changes
Static biofilms of the disruption mutant exhibit a maintenance defect, which can be further exacerbated by exposure to peroxide (PubMed:34694901). The mutant biofilms produce less c-di-GMP than wild-type strain and exposure to peroxide enhances motility of surface-associated bacteria and increases cell death of the mutant (PubMed:34694901). Inactivation of the gene suppresses the phenotypes observed in the tpbA mutant (PubMed:19543378, PubMed:23766119)
Mutant embryos are arrested at the 1-fold stage due to a failure in epidermal enclosure (PubMed:17237233). RNAi-mediated knockdown results in the failure of hermaphrodite-specific neurons to migrate to their correct position and in a defect in axonal guidance (PubMed:24052309)
RNAi-mediated knockdown is pupal lethal. Larvae display a delay in development and a decrease in body size. Display progressive defects in mitochondrial respiratory chain capacity as well as a decrease in the enzyme activity of all mitochondrial oxidative phosphorylation complexes. Decrease in enzyme activity is particularly severe in complex I and IV which also display a decrease in the levels of their assembled complexes. Progressive reduction in 16S rRNA levels and impaired assembly of the large (39S) mitochondrial ribosomal subunit. Increase in mitochondrial DNA (mtDNA) transcription and impaired mitochondrial translation
Abolishes phosphorylation of the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/SUI2) during amino acid, purine, and glucose starvation (PubMed:8336737, PubMed:10733573). Inhibits GCN4 derepression in glucose, amino acid, or purine-starved cells (PubMed:8336737, PubMed:10733573). Decreases vacuolar free amino acid levels during glucose starvation (PubMed:10733573). Sensitive to the purine analog 8-azaadenine (PubMed:8336737). Increases duration of lag phase on return to glucose-rich medium following glucose starvation (PubMed:10733573)
Mice lacking Gsdma, Gsdma2 and Gsdma3 are highly susceptible to subcutaneous group A Streptococcus (GAS) infection in an animal model
Fishes display embryonic cardiac hyperplasia with increased cell number and size by 72 hours post-fertilization. Gut and gut-derived organs are incapable of growth and differentiation after this time. The mutation enhances ATPase activity, rendering it DNA-independent and causes aggregation of the protein into large complexes
Loss of induction of the CRISPR-Cas casABCDE-ygbT-ygbF operon (PubMed:21255106)
Impairs the production of neosartorin and accumulates blennolide C and 5-acetylblennolide A
Impairs sporulation
Embryonic lethality when homozygous (PubMed:15266054, PubMed:19457984, PubMed:23621281). Embryo development arrest at cotyledon stage (PubMed:15266054)
Double dlp1-dlp2 deletions have no obvious cell division defects, have no flagella (possibly due to loss of expression of flgP) and are non-motile
Lethality
RNAi-mediated knockdown partially prevents neuronal degeneration in a mec-4(u231), deg-1(u38) or gsa-1(Q227L) gain-of-function mutant background
Mutant mice grow and develop normally but exhibit impairments in spatial learning and memory and impairments in short- and long-term memory, accompanied with increased level of anxiety-like behaviors in open-field test. They also show decreased level of depression-like behaviors in forced-swim test and tail-suspension test (PubMed:30137205). They show neuronal loss, defects in dendritic and synaptic morphology, and apoptosis in the brain (PubMed:30137205)
Mutants have an extended lifespan, increased volume and are sterile with a germ cell proliferation defect
Pollen morphological defects, reduced pollen germination efficiency and pollen tube growth
Mutants show a high rate of anucleate cell production and a subset of cells that is extremely enlarged with irregular morphology
No visible phenotype under standard growth conditions. Delays Lon protease-dependent lethality upon overexpression of Lon, but does not fully suppress it
Cells lacking this gene cannot grow on phenol
Mice are normal with no visible phenotype. They however show an increased susceptibility to bacterial infections. Neutrophils show significantly less bacteriostatic activity
Disruption leads to loss of motility due to the failure of the mutant strain to express the RpoN-dependent flagellar genes
Increased susceptibility to the oomycetes Phytophthora brassicae and Phytophthora capsici but enhanced resistance to the pathogenic bacteria Pseudomonas syringae
Slight reduction in plant height. Reduced size of the endosperm, reduced starch content of the endosperm and floury (opaque) endosperm
Delayed root growth in seedlings. Hypersensitivity to genotoxic stress such as UV-C, X-rays, methyl methanesulfonate (MMS) and mitomycin C (MMC)
Absence of MsbA alone causes accumulation of hexa-acylated lipid A species and glycerophospholipids in the inner membrane
Deletion mutant does not show any observable phenotype
The deficient mice have no obvious intestinal phenotype, show no defect in Na(+)-absorption, have normal serum Na(+) levels and no signs of diarrhea. Apically expressed Slc9a2 and Slc9a3 are increased in the small intestine of the Slc9a8-deficient mice in compensation (PubMed:22575219). Deficient mice have a reduced gastric mucosal surface pH, a higher incidence of developing gastric ulcer, and a decreased of mucin-2 (Muc2) expression (PubMed:23657568, PubMed:23220221). The intestinal mucosa in Slc9a8-deficient mice is prone to bacterial adhesion and penetration, which in turn promotes inflammation (PubMed:26505975, PubMed:23220221). Male knockout mice are infertile, have small testis, low testosterone levels, normal LH and FSH serum levels, however LH receptor (Lhcgr) is approximately 50% reduced. The spermatogenesise is also affected, deficient mice have round-headed spermatozoa and lack acrosomes (PubMed:25472965, PubMed:28476888). Knockout mice exhibit reduced tear production and increased corneal staining (PubMed:25377091). Knockdown Slc9a8 in adult retina leads to photoreceptor cell death (PubMed:25377091, PubMed:29958869)
In knockout (KO) mice, resting cardiovascular function, including blood pressure (BP), heart rate and cardiac output is the same as that in wild-type mice (PubMed:17698731). Significant difference, however, is observed in the BP response to exercise (PubMed:17698731). The relative diastolic wall thickness and the ratio of left ventricular posterior wall thickness (LVPW) to left ventricular internal dimension (LVID) are significantly increased in KO mice (PubMed:17698731)
Dwarf phenotype and decreased fertility
Defect in seed production due to female gametophyte developmental arrest
Massive apoptosis in the CNS, probably due to loss of mitochondrial function and increased cytochrome c release
Deletion mutant mice show no special developmental defects, and their immune system appear to develop normally. However, they show susceptibility to bacterial or viral infections such as vaccinia virus or Theiler's murine encephalomyelitis virus, despite normal cytotoxic and T-helper cell responses
Cells lacking this gene produce oxytetracycline with a yield of only 50% compared to the wild-type
Not essential. The growth of the knockout mutant is impaired, although not fully abolished, when asparagine is provided as sole nitrogen donor. Nitrogen assimilation from asparagine into glutamate and glutamine is fully abrogated in the knockout mutant at acidic pH. Mutant is impaired in host tissue colonization
No visible morphological defects in the coat or cell wall of desiccated pollen grains, but strongly decreased viability during rehydration
Does not grow in air, grows poorly in air supplemented with 5% CO(2), a high-CO(2) requiring phenotype (hcr), has apolar effect on expression of downstream cbbS. Expresses type II but not type I RuBisCO, does not form carboxysomes but instead smaller, empty cytoplasmic inclusions (PubMed:9696760). A double ccbL-ccbS deletion is hcr and forms empty but otherwise normal appearing carboxysomes (PubMed:18974784). Required for growth in ambient air (PubMed:31406332)
Lack of flavanoid pigment accumulation in the seed coat endothelium (transparent testa phenotype)
Retains 88 percent of the catalytic activity. Double xyl1/xyl2 deletion mutant retains 19 percent of the activity and exhibits a 50 percent reduction in accumulation of total mycelial mass
Impaired arbuscular mycorrhiza (AM) fungi (e.g. Glomus intraradices, G. mosseae and Gigaspora margarita) passage across root epidermis and abolished arbuscule formation in root cortex during AM symbiosis, thus leading to aborted hyphopodia and no arbuscules
Knockout of isoform d results in defective dauer formation. Eighteen percent of temperature sensitive mutants are embryonic lethal. The surviving animals are small (Sma), clear (Clr), uncoordinated, constipated and sterile. They display variable morphological defects in the main body and pharynx
Deletion of the gene abolishes both N-oxidation activity and aureothin production
Mutants have defective suckling and uncoordinated limb and trunk movements, leading to early postnatal death. They show a loss of neurons in the trigerminal ganglia, the medial habenula, the red nucleus and the caudal region of the inferior olivary nucleus (PubMed:8876243). Mutant dorsal root ganglions are defective in sensory neuron specification, and sensory afferent axons fail to form normal trajectories in the spinal cord (PubMed:22326227)
Abolishes the production of ergosterol and leads to the formation of more than one septum in some cells (PubMed:18310029). Leads to susceptibility to cycloheximide and to staurosporine, but does not affect tolerance to nystatin and to amphotericin B (PubMed:18310029)
Forms aconidial fluffy colonies (PubMed:25629352)
FBXL5-deletion mice die during early embryogenesis (PubMed:23135277, PubMed:21907140). FBXL5-null embryos accumulate excess ferrous iron and are exposed to damaging levels of oxidative stress (PubMed:21907140). Simultaneous inactivation of both the FBXL5 and IRP2 genes is sufficient to rescue embryonic lethality (PubMed:21907140)
Cysteine auxotrophy
Results in total loss of gibepyrone A biosynthesis
RNAi-mediated knockdown results in 60% embryonic lethality. Surviving 2-cell stage to 64-cell stage embryos display a disorganized arrangement and do not undergo cell divion. Due to short and diorganized microtubule arrangement, one cell stage embryos exhibit nuclear-centrosomal defects, failed cytokinesis, and abnormal pronuclear activity which include failed male pronucleus migration and the presence of multiple pronuclei
Resulted in the down-regulation of the three biosynthetic genes from the trisetin cluster and a reduced accumulation of trichosetin, and blocks the expression of the cluster-specific MFS transporter MFS-T (PubMed:28379186)
Does not display a lethal photorespiratory phenotype when grown at ambient carbon dioxide
Disruption of this gene abolishes acetylation of USP
No visible phenotype (PubMed:24173806). Double mutants sub/scm poq and qky poq have a stronger pistil twisting than single mutants (PubMed:24173806). The triple mutant qky sub/scm poq has a dramatic pistil twisting phenotype due to defects of valve cell growth anisotropy (PubMed:24173806)
Adults are viable and fertile, but with a moderate frequency of somatic gonad defects, which increases on an ehn-3 mutant background (PubMed:12756172). Low frequency of embryonic lethality, with embryos arresting paralyzed at the two-fold stage; increases in frequency significantly on an hlh-1 or unc-120 mutant background (PubMed:12756172, PubMed:15892873, PubMed:17142668). Many embryos that survive to hatch become uncoordinated, dumpy larvae with variable body shape defects, typically in the posterior (PubMed:15892873, PubMed:12756172). One quarter of the embryos from homozygous hnd-1;hlh-1 heterozygous parents exhibit reduced expression of myosin myo-3 (PubMed:17142668). On a unc-120 mutant background, progeny show reduced expression of myo-3 at mid-embryogenesis (PubMed:17142668). RNAi-mediated knockdown results in abnormal number and positioning of the somatic gonadal precursor cells (SGPs) and influences the maintenance of primordial germ cells (PGCs) in L1 larvae (PubMed:15892873)
Loss of osmotic regulation of the proU locus, loss of changes in plasmid linking number (PubMed:1423593). 2X decreased growth rate, which is partially restored by a mutation preventing expression of SPI2, increased expression of about half of the genes to which H-NS binds (PubMed:16933988). Note strain LT2 has point mutation in rpoS which decreases its translation efficiency, in the presence of wild-type rpoS, deletion of hns is lethal (PubMed:16933988)
No visible phenotype (Ref.6, PubMed:23898032). Weak chloroplast phenotype under short-day conditions (PubMed:23898032)
No visible phenotype under normal growth conditions, probably due to the redundancy with PPRP40A and PPRP40C
Normal asexual blood stage development (PubMed:33711786). Normal transmission from the host blood to the mosquito vector with no defect in oocyst development (PubMed:33711786). Salivary gland sporozoites are normal and are able to infect C57BL/6 mice (PubMed:33711786). Sporozoites can infect host liver and develop into merozoites (PubMed:33711786). No defect in the integrity of mitochondrial DNA (PubMed:33711786)
Mice lacking both Eif4ebp1 and Eif4ebp2 display increased their sensitivity to diet-induced obesity (PubMed:17273556). Mice lacking both Eif4ebp1 and Eif4ebp2 show defects in myelopoiesis: mice display an increased number of immature granulocytic precursors, associated with a decreased number of mature granulocytic elements (PubMed:19175792)
Deletion mutants show loss of observable pili
In germinating pollen grain, the double mutant prf4 and prf5 reduces the amount of F-actin and induces disorganization of actin filaments within the apical and subapical regions of the pollen tube
Disruption of the gene enhances aggressiveness of the bacterium. Under anaerobic conditions, disruption increases pectate lyase (Pel) production and increases the maceration efficiency on potato tubers (PubMed:15720084). Uptake of glycine betaine and choline is completely abolished in the ousA-ousB double mutant (PubMed:16000740)
Impairs conidiation and ability of their appressoria to form a penetration peg, leading to unability to infect unwounded Granny Smith apples or onion (PubMed:17849713)
Single deletion has no effect on expression of cognate toxin ykfI i.e. the probable operon is not autoregulatory (PubMed:28257056). Deletion of 3 type IV antitoxin genes (cbeA, yafW, yfjZ) has no effect on cell growth (PubMed:28257056)
Morpholino knockdown of the protein in embryos results in severe disruption of muscle fibers
Knockout mice exhibit memory deficits
Mice are viable without obvious physiological or behavioral abnormalities (PubMed:31685995). They however display impaired innate immune responses against RNA virus infection by producing less type I interferons (IFNs) (PubMed:31685995)
PTPN14 deficient mice have swelling of the limbs or periorbital edema. These mice also show hyperplasia of lymphatic capillaries of the ears. There is no evidence of choanal atresia or any overtly dysmorphic features
Morpholino knockdown of the protein causes developmental defects at 48 hours post-fertilization (hpf), including cilia curved body shape, short body axis, hydrocephalus, small head and small eyes. Morphants often do not respond, or have slow startle response, when probed with a needle, consistent with neuromuscular defects
Impaired response to environmental cues such as temperature and humidity (PubMed:27161501, PubMed:27656904). Response of dorsal organ cool cells to changes in temperature is abolished and consequently larvae fail to avoid cool temperatures (PubMed:27161501, PubMed:27656904). Response of sacculus neurons to changes in humidity is abolished and consequently larvae fail to move towards their preferred humidity (PubMed:27161501, PubMed:27656904)
Mutants fail to grow with hypoxanthine, xanthine or urate as the sole nitrogen source, but can grow with allantoin and allantoate
Neuronal hyperplasia, suggesting a role in Notch signaling pathway
No visible phenotype. The double mutant tk1a tk1b is seedling lethal
Dramatically reduced fertility due to a postmeiotic rupture of microspores
Loss of most endothelial and haematopoietic cells and a significant increase in cardiomyocyte numbers (PubMed:27411634, PubMed:7588049). Embryos show defects in the endothelial and hematopoietic lineages at a very early embryonic stage, characterized by the absence of the endocardium (PubMed:27411634). Early cardiac morphogenesis proceeds normally even in the absence of the endocardium (PubMed:27411634). The myocardial cells form a tube that is demarcated into chambers, beats rhythmically, but exhibits a reduced contractility (PubMed:27411634). Mutant embryos survive for one week of development (PubMed:27411634)
Does not affect growth on fructose or on glucose
Loss of susceptibility to contact-dependent growth inhibition (CDI); inhibiting cells still contact the target
Defective cilia (PubMed:22718903, PubMed:24596149). Morpholino knockdown of the protein results in cilia defects in the pronephric kidney at 27 hpf and distension/dilation of pronephros at 5 dpf. In the eyes, the outer segments of photoreceptor cells appear shortened or absent, whereas cellular lamination seems normal in retinas at 5 dpf (PubMed:22718903). Left-right asymmetry defects with abnormal heart looping, hydrocephalus, pronephric cysts, abnormal ear otolith formation and curly body axis (PubMed:24596149)
No visible phenotype; probably due to redundancy with GA3OX1. Ga3ox1 and ga3ox2 double mutant has a severe defect in seed germination and root growth, and a dwarf phenotype
The inactivation of the this gene results in the complete loss of A2030 modification, but does not cause the accumulation of ribosome assembly intermediates. The phenotype of rlmJ knockout gene is very mild under various growth conditions and at the stationary phase, except for a small growth advantage in anaerobic conditions. Only minor changes in the total E.coli proteome can be observed in a cell devoid of the 23S rRNA nucleotide A2030 methylation (PubMed:22847818). Mutants show a stationary-phase competition defect during coculture with wild-type cells (PubMed:11591672). Cells lacking this gene are unable to grow using DNA as a sole nutrition source, but have no defects in DNA uptake by electroporation or when made chemically competent (PubMed:11591672, PubMed:16707682)
With increasing age, mice develop fatty liver, due to impaired mitochondrial fatty acid metabolism, and impaired remodeling of the mitochondrial lipid cardiolipin. Mitochondria contain increased levels of monolysocardiolipin, and decreased levels of linoleic and linolenic acid. The altered fatty acid metabolism leads to decreased mitochondrial beta-oxidation and ketone body formation. Mitochondria show abnormal, elongated morphology, and their function is impaired
Cells lacking this gene are unable to degrade naphthalene
Mice are born at slightly less than the expected Mendelian rate, and the number of surviving mice is significantly reduced after three weeks. Mice are considerably smaller than wild-type littermates and suffer from general skeletal deformities with shortened limbs, increased bone density, and decreased volume of femoral bone marrow. Mice have decreased numbers of circulating monocytes and lymphocytes, decreased numbers of tissue macrophages, paired with an increase in the number of circulating granulocytes. In addition, mice are deaf and have reduced male and female fertility. In females, the duration of the diestrous period is increased, and in pregnant females the lactating mammary gland fails to develop normally. Males mate less frequently and give rise to fewer pregnant females
Seedling lethality when homozygous, due to loss of chloroplast integrity, causing a bleached phenotype from early embryo to seedling development
10-fold decrease in D-tyrosyl-tRNA(Tyr) deacylase activity, growth becomes more sensitive to D-tyrosine and is inhibited at 0.1 mM D-Tyr (PubMed:10766779, PubMed:10918062). Growth is also inhibited in the presence of 0.3 mM D-leucine; wild-type cells grow well in up to 0.3 mM D-Tyr and 10 mM D-Leu (PubMed:10918062). No growth differences observed in the presence of the other D-amino acids (PubMed:10918062)
Mice are osteopenic and are more susceptible to inflammatory bone loss, owing to enhanced osteoclast formation
Cells lacking this gene accumulate various aclacinomycin analogs
A quadruple rpnA-rpnB-rpnC-rpnD deletion shows no change in basal RecA-independent recombination (PubMed:28096446)
Mice are viable but show defects in mitochondrial DNA synthesis
Deletion of the gene leads to cytoplasmic Mn(2+) accumulation and a decrease in secreted Mn(2+)-bound proteins (PubMed:23482562). Mutant is hypersensitive to zinc and oxidative stress (PubMed:21925112, PubMed:23482562). It exhibits an impaired growth in human macrophages (PubMed:21925112)
No visible phenotype; its associated toxin gene (parE2, not annotated in UniProtKB) is non-functional
Isoform 2 deficient mice present a disruption of the normal photoreceptor architecture
Abolishes growth on glycolate or glyoxylate, but the deletion mutant strain is still able to grow on acetate, succinate or glucose with comparable growth rates as for the wild type
Male mice show normal mating behavior and produce morphologically normal sperm, but are nearly sterile. Mutant sperm fail to adhere to the egg zona pellucida and are generally unable to penetrate the egg extracellular matrix. In addition, mutant sperm display defects in migration from the uterus into the oviduct
Mutants survive to adulthood and produce offspring (PubMed:34782749). Embryos show a significant defect in heart looping, with an increased proportion of embryos without a looped heart (PubMed:34782749). the They have an increased percentage of ciliated cells and ciliary length in Kupffer's Vesicle, although these alterations are not observed in the ear, pronephros or neural tube (PubMed:34782749)
Embryos lacking both e2f7 and e2f8 contain multiple intersegmental arteries that completely fail to migrate from the dorsal aorta. Gross morphology of these embryos and initial formation of main axial vessels are unaltered
Confers sensitivity for growth for cadmium, manganese, nickel, selenium and iron
RNAi-mediated knockdown results in precocious seam cell fusion and the early exit of seam cell from the cell cycle during the L4 larval stage (PubMed:15691769). RNAi-mediated knockdown does not impair alae formation (PubMed:15691769). RNAi-mediated knockdown results in a squat body statue, referred to as a dumpy phenotype, and rescues the incomplete alae formation defect in the lin-42 (n1089) mutant (PubMed:29880558). RNAi-mediated knockdown increases the survival rate and partially restores alae formation of let-7 n2853 mutants at 20 dgrees Celsius (PubMed:15691769). RNAi-mediated knockdown rescues the lethal bursting phenotype that occurs after the L4 stage molt in the let-7(n2853) mutant at 25 degrees Celsius (PubMed:29880558)
Homozygous mice for ALOX5 are also present in the expected ratios. Mice are indistinguishable in growth and size from wild type littermates (PubMed:7809134). Homozygous mice for ALOX5 show no apparent abnormalities up to ten months of age under normal physiological conditions, except that the spleen is usually smaller for 8-week-old mice (PubMed:7969451)
Cells displayed reduced and abnormal cell size/shape, no effect on flotillin cluster numbers or size
Cell viability is dramatically reduced in stationary phase, cells have a 10 hour growth block upon transition from rich to poor medium. Protein translation in stationary phase is derepressed
Abolishes the production of valactamides A-H
Dwarf, narrow leaf, low tillering and altered kernel color
Mutants show increased growth within macrophages and a hypervirulence phenotype in severe combined immunodeficiency mice
Mice lacking Sprr2a1, Sprr2a2 and Sprr2a3 show an expansion of Gram-positive bacteria in the small intestinal lumen and mucus layer (PubMed:34735226). Mice were born in normal Mendelian ratios, are healthy and show normal intestinal morphology with no signs of inflammation in normal conditions (PubMed:34735226). They however show an increased abundance of Gram-positive bacteria in the small intestinal lumen, with a marked increase in the relative abundance of Lactobacillus, Turicibacter, and C.arthromitus (PubMed:34735226). At the same time, a reduction in the abundance of Bacteroidetes, a class of Gram-negative bacteria is observed (PubMed:34735226). Mice are more susceptible to L. monocytogenes infection (PubMed:34735226)
No visible growth phenotype, no change in extracellular putrescine levels, if the putrescine export operon sapBCDF is also deleted growth is slower
According PubMed:22285131, mice show a normal number of megakaryocytes and platelets
Axial skeletal defects in newborn mice such as rib fusions, fused vertebral bodies and fused pedicles of the vertebrae; defects are influenced by the strain-specific genetic background. Embryos exhibit expansion and fusion of myotomes, dorsal root ganglia fusions and defects in projection of the spinal nerves. Embryos show increased level of Notch 1 intracellular domain (NICD) expression in presomitic mesoderm and somites (PubMed:21998026). In contrast, fewer somites and vertebrae found in -/- are linked to a longer segmentation clock period (PubMed:21795391). Defects in the radial expansion of the vascular plexus from the optic nerve head to the periphery, reduction of retinal vessel density; however, most of the defects in angiogenesis resolve over time (PubMed:19154719)
Loss of neural crest progenitors and an expansion of the neural plate, leading to loss or reduction of neural crest-derived skeletal elements later during development
Plants lacking both THS1 and THS2 exhibit reduced thebaine levels but accumulation of the upstream intermediates salutaridinol and reticuline
No visible phenotype under normal growth conditions, but mutant plants are hyper-susceptible to infection by the bacterial pathogen Pseudomonas syringae
No visible growth or developmental defects under normal growth conditions (PubMed:24920332). DNA hypermethylation (PubMed:25002145)
Reduced plant size and pale green leaves
Morpholino knockdown of the protein causes abnormal numbers of small, fused, and misplaced otoliths, and a smaller inner ear. Neuromasts of the morphants are smaller, and the number of lateral line neuromasts in the morphants is fewer than in the wild-type. Fewer hair cells per neuromast are found in both the anterior and posterior line of morpholino knockdown larvae (120 hpf) than in the wild-type. Knockdown larvae have a defective balance system, they show an abnormal swimming behavior by remaining stationary and resting in abnormal positions, they swim up and down and in circles. They also show some hearing loss
Cells lacking this gene do not show decrease of specific PPPase activity
Mating of knockout (KO) female and wild-type (WT) male results in 30% KO/WT pairs without fertilization output
Cells lacking this gene lose the ability to grow on C1 (methanol and methylamine) and C2 (ethanol and ethylamine) compounds
Disruption of the gene results in loss of cell width control (PubMed:11290328). Depletion leads to a strong defect in chromosome segregation (PubMed:14588250, PubMed:15745453). It also leads to the formation of enlarged cells, to the loss of mid cell localization of the replication machinery and to growth arrest (PubMed:15745453). Double dynA-mreB deletions have strong cell shape defects (PubMed:23249255)
Morpholino knockdown of the protein causes abnormalities of striated muscle development and abnormal development of the heart, including failure of looping and snapping of the atrium from its venous pole
No longer inhibits growth of bacteria encoding this gene on tomato cv. Hawaii 7998
Deletion mutant is unable to use cholesterol as a source of carbon and energy, and has a limited ability to multiply in resting human macrophages following infection, reflecting a failure of the mutant to inhibit the TLR2-dependent bactericidal activity of resting macrophages
Embryonic lethality associated with extensive apoptotic cell death in the embryonic central nervous system
No visible changes in phenotype, probably due to a complementation by FTSH5. The presence of both FTSH1 or FTSH5 (subunit type A) and FTSH2 or FTSH8 (subunit type B) is essential for an active complex formation
IL-3-deficient animals show no abnormalities. Analysis of steady-state hematopoiesis demonstrates normal numbers of peripheral blood cells, bone marrow and splenic hematopoietic progenitors. However, they show impaired contact hypersensitivity reactions
Premature senescence under low light conditions accompanied by enhanced ABA biosynthesis, accumulation of AAO3, and reduced photosynthetic capacity
Increased dehydration stress tolerance associated with abscisic acid (ABA) hypersensitivity during stomatal closure regulation (PubMed:31038749). Ectopic increase in genome-wide H3K4me1, H3K4me2 and H3K4me3 levels and activation of several dehydration stress-responsive genes, including OST1 (PubMed:31038749). The double mutants jmj17-1 jmj14-1 and jmj17-1 jmj16-1 have an early flowering phenotype (especially in long day conditions) (PubMed:31038749). The triple mutant jmj17-1 jmj14-1 jmj16-1 flowers even earlier (PubMed:31038749)
No phenotypic change
Shortened life-span (PubMed:15574588, PubMed:18408008). Temperature-dependent hypersensitivity to stress, slow body bending, abnormal modulation of head oscillation (PubMed:15574588, PubMed:18408008). Reduced survival following oxidative stress induced by the superoxide paraquat (PubMed:24763318). Reduced survival as a result of hyperosmotic stress induced by NaCl (PubMed:26439621). Double knockout with aak-1 results in reduced glycogen accumulation (PubMed:26439621)
When associated with ARGOS disruption, reduction in organ size
Reduced cilia length in the Kupffer's vesicle and impaired left-right asymmetry
Pale green leaves and slightly longer early appearing leaves (PubMed:18305007). Delayed leaf growth and abnormal leaf patterning, with the abaxial mesophyll features appearing in the adaxial mesophyll domain (PubMed:18305007). More proximal vein branching in the petiole and reduced number of small veins at later leaf developmental stages (PubMed:18305007). Abnormal inflorescences terminating early and producing several secondary inflorescences (PubMed:18305007). Double mutant ae5-1 as2-101 exhibits an increased number of lotus- and needle-like leaves (PubMed:18305007). The double mutant ae5 as1/2 produces severe abaxialized leaves (PubMed:18305007)
Embryos show severe stunting and increased mortality at 13.5 dpc
Synaptic defects characterized by increased dopamine but decreased GABA signaling. A reduction in the output of cortical parvalbumin (PV)-positive GABAergic basket cells is observed, together with an increase of midbrain dopaminergic release in the nucleus accumbens. Increased dopaminergic signaling induces behavior abnormalities, characterized by severe and highly penetrant over-grooming behavior, resulting in whisker, face and sometimes body hair loss but rarely lesions. The over-grooming phenotype can be pharmacologically reversed following administration of haloperidol drug
Trim34a- and TRIM34b-deficient mice show an impaired integrity of the inner mucus layer
Knockout causes a smooth to rough phenotype transition; cells grow as filaments longer than 10 um in length with septa between cells but no indentations. Knockout also causes a smooth to rough phenotype transition; cells grow as filaments longer than 10 um in length with septa between cells but no indentations (PubMed:16321943)
Results in red conidia
Pollen morphological defects
Albino phenotype and seedling lethal when homozygous. The phenotype is caused by an early arrest in chloroplast differentiation
PubMed:12968785 describes 80 % of lethality within 2 days of birth in heterozygotes and polycystic kidney and bone deformity in survivors. However, PubMed:16882727 reports no apparent developmental deficits with viable and fertile mice
Essential for growth, it cannot be disrupted. In depletion experiments cells become over 3-fold longer, are abnormally curved and nucleoids condense
Disrupted in the hemorrhagic hydrocephalus (hhy) mutant. The mutant animals shown sucortical heterotopia and non-obstructive hydrocephalus with frequent brain hemorrhage
Mutant is unable to grow on choline, GB and DMG as sole carbon or nitrogen sources (PubMed:17951379). Deletion mutant cannot induce expression of plcH (PubMed:19103776)
Death at the larval-pupal transition with small brains and missing imaginal disks. Specific abnormalities in interphase nuclear structure; clumping of chromatin and convolution of nuclear shape
Mutants show a severe growth defect in the presence of copper. Deletion causes a drastic virulence defect in guinea pigs, mostly due to a much lower bacterial burden in the lungs
Cells lacking this gene are able to grow with nitrate as the sole nitrogen source, but are unable to grow in ammonium-containing medium. This mutant is impaired in the regulation of the nitrate assimilation system
Deficient mice exhibit embryonic lethality and a cleft palate and omphalocele
Mice are born at the expected Mendelian ratio, but exhibit severe growth retardation and impaired erythropoiesis. None survive the first day of postnatal life. PPP1R15A-PPP1R15B double-knockout embryos do not develop past the preimplantation period
Knockout mice are born at the expected Mendelian rate and have normal embryonic and postnatal development (PubMed:23690440). They are susceptible to acute and chronic inflammatory reactions and resistant to tumorigenesis. In a model of hapten-induced contact hypersensitivity, mutant mice show an enhanced T-helper 1 immune response in skin lymph nodes at sensitization phase followed by delayed inflammation resolution with more severe ear swelling, epidermal hyperplasia, and inflammatory cell infiltration at elicitation phase (PubMed:23690440, PubMed:27226632). In a psoriasis model, mutant mice show enhanced T-helper 17 immune response and epidermal hyperplasia associated with decreased synthesis of omega-3 PUFAs (PubMed:27226632). In a model of chemically-induced skin carcinogenesis, mutant mice show resistance to cutaneous papilloma formation (PubMed:27226632). In response to SARS-CoV infection, mutant middle-aged (10-13 month old) mice mount a potent antiviral T cell response, resulting in more rapid virus clearance and significantly decreased mortality compared with wild-type ones. This represents a relevant model for SARS-CoV increased susceptibility with aging in human (PubMed:26392224)
Severely decreases acetylation of 'Lys-56' and 'Lys-9' of histone H3 (PubMed:33823938). Increases mycelial branching (PubMed:33823938). Severely decreases spore formation and abolishes sclerotia production (PubMed:33823938). Decreases aflatoxin production (PubMed:33823938). Increases sensitivity to sodium chloride (osmotic stress), hydrogen peroxide (oxidative stress), methyl methane sulfonate (genotoxic stress), and Congo Red (cell wall stress) (PubMed:33823938). Decreases cell population growth rate (PubMed:33823938). Decreases virulence on maize seed (PubMed:33823938)
RNAi-mediated knockdown results in impaired miRNA degradation leading to accumulation of mature miRNA passenger (miR*) strands (PubMed:19734881, PubMed:21397849). Defective molting owing to failure to shed cuticle from the pharynx in the late L4-stage larvae (PubMed:16122351). Suppresses the vulval bursting phenotype of let-7 mutant (PubMed:19734881). Reduced paxt-1 expression (PubMed:24462208)
Reduced growth, abnormal leaf shape, defect in mature pollen grain formation and aborted seeds, due to defects in mitosis and meiosis
Does not alter fusarin C production (PubMed:23932525)
Cells lacking this gene make aberrant thin aggregative fimbriae (Tafi) which are composed solely of CsgA. Normal Tafi are composed of CsgA and CsgB at a 20:1 ration
Loss or reduction of expression of about 20 genes in response to hyperosmotic stress (0.5 M sorbitol) or salt (0.5 M NaCl) stress (PubMed:15471853, PubMed:15805106, PubMed:19411329). Increased survival after heat shock from 30 to 48 degrees Celsius for 2-3 hours. Increased expression of some heat shock and photosystem-related proteins (PubMed:15965020). Cells die after 24 hours of heat shock (32 to 44 degrees Celsius). Increased expression of some heat shock proteins during normal growth (PubMed:25738257)
No visible phenotype (PubMed:7961491). Double pbpA-pbpD deletions spores have greatly decreased spore outgrowth and peptidoglycan synthesis (PubMed:9851991)
Delayed leaf senescence (including delayed leaf yellowing phenotype under darkness or after ABA treatment) but enhanced fruit yield and sugar content, likely due to prolonged leaf photosynthesis in aging plants; these phenotypes are increased in plants lacking both NAP1 and NAP2
Progressively lethal between 12.5 dpc and birth (PubMed:8552649). Embryos show hypoplastic ventricular myocardium without septal and trabecular defect, reduced numbers of pluripotential and committed hematopoietic progenitors in liver and reduced differentiated lineages in thymus (PubMed:8552649). Impaired differentiation of astrocytes and decreased number of dorsal root ganglion and motor neurons at 18.5 dpc (PubMed:10377352). Decreased volume of mineralized trabecular bones, while number of osteoclasts is increased (PubMed:9348227, PubMed:26255596). Conditional knockout from the entire osteoblast lineage or specifically in osteocytes causes no significant skeletal or morphological defects but mice show 30% lower trabecular bone formation rate and larger cortical diameter compared to wild type (PubMed:24339143, PubMed:26255596). Conditional knockout in primary nociceptive afferents causes reduced sensitivity to mechanical stimulation due to reduced sensitivity of nociceptive neurons and reduces TRPA1 mRNA expression in dorsal root ganglion neurons (PubMed:25057188)
Reduction in growth rate, a decrease in free 40S subunits, an increase in the amount of free 60S subunits and a decrease in polysome size
RNAi-mediated knockdown causes early embryonic defects, including premature cell division of the Ea and Ep blastomeres, a failure to undergo gastrulation, and embryonic arrest (PubMed:11030350, PubMed:11030349). Knockdown causes severe loss of polymerase II large subunit ama-1 phosphorylation (PubMed:11030350, PubMed:11030349). Knockdown also causes a reduction in expression levels of several embryonic genes (PubMed:11030350, PubMed:11030349, PubMed:14726532)
Phosphoinositides (PIPs) with stearic acyl chains are strongly disturbed. Induces disturbances in intracellular trafficking, alterations in the budding pattern and defects in actin cytoskeleton organization
Deficient mice have reduced viability and show growth retardation, skeletal dysplasia and impaired fertility
Increased root length at seedling stage (PubMed:21315474). Accumulation of fraxetin, but loss of sideretin root secretion in response to iron deficiency. Slightly increased iron-uptake ability at elevated pH leading to a better fitness of plants, due to the presence of high fraxetin content (PubMed:29581584)
Delayed leaf formation during vegetative development, abnormal SAM layered structure, altered inflorescences, disrupted phyllotaxy, reduced number of seeds and reduced number of lateral roots
Leads to increased sensitivity to oxidative stress and raduces the virulence toward Arabidopsis thaliana plants (PubMed:17056706)
Impairs the production of viridicatumtoxin, but accumulates previridicatumtoxin (PubMed:24161266)
Insertion mutant loses its GG uptake ability, and shows leakage of glucosylglycerol from the cells into the medium. Mutation does not affect salt tolerance
No effect on developmental timing or on levels of the insulin-like peptides Ilp2 and Ilp3
Early flowering. Enhanced response to gibberellin (GA)
A loss-of-function mutation does not affect the development of AIY interneurons, or lead to egg-laying or any other behavioral defects
Mutants show a dramatic reduction in biofilm formation
Abnormal inflorescence stems gravitropism but normal hypocotyl gravitropism. Impaired flexible and dynamic structure of vacuolar membrane (VMs) leading to altered amyloplast sedimentation
No visible phenotype when grown under normal conditions, but reduced sensitivity to cell death induced by the mycotoxin fumonisin B1, methyl viologen (oxidative stress) and infection with an avirulent strain of P.syringae DC3000
No visible auditory phenotype
Impairs the translocation of HAT1 from the nucleus to the cytoplasm upon starvation
Deletion of pgaB does not prevent PGA synthesis but does block its export and biofilm formation. The synthesized PGA is retained in the periplasm and accumulates at the cell poles
Strongly reduced shoot growth, and slightly increased root growth. Reduced expression of phosphate starvation-induced (PSI) genes, decreased cellular inorganic phosphate (Pi) content and shoot-to-root ratio, and impaired anthocyanin accumulation (PubMed:17927693)
Knockout mice have short fore and hind paws, and display a significant decrease in the length of the snout
Severe dwarfism and dark green color. Seedling viability compromised
No effect on scopoletin and scopolin levels in the roots
Mice are viable and fertile with no obvious sensory deficits or major perturbations of behavior, but show subtle changes in synaptic signal transmission and signal processing. Mice display subtle deficits in reciprocal social interactions and communication. They have reduced brain volume
Mutant is unable to utilize both fatty acids and cholesterol during infection in macrophages
Mutant flies show defective one-day memory but normal learning
Mutant mice are normal at birth, but display paroxysmal movements at the onset of locomotion that persist in the adulthood. Adult animals present abnormal motor behaviors characterized by wild running and jumping in response to audiogenic stimuli that are ineffective in wild-type mice and an increased sensitivity to the convulsive effects of pentylentetrazol. Although the overall brain structure is not affected by the knockout, the thickness of the neocortex in young adult is significantly reduced in medial and caudal regions compared to their wild-type littermates. No significant differences are observed in the thickness of the CA1, CA3 and DG regions of the hippocampus, as well as for the molecular and granule layers of the cerebellum (PubMed:28007585). Mice with a conditional knockout in the central nervous system develop normally, but showed poor performance in motor coordination functions (PubMed:29056747)
Cells lacking this gene fail to produce coenzyme Q8, and accumulate octaprenylphenol (OPP)
No measurable change in basal synaptic strength or short-term neuronal plasticity (PubMed:23739973). Neurons from the CA3 hippocampal region exhibit an impairment of cAMP-dependent long-term potentiation in mossy-fiber synapses (PubMed:23739973)
Results in the significant down-regulation of both azasperpyranone A biosynthesis clusters A and B, including the cluster-specific transcription factors ATEG_03638 and ATEG_07666
Homozygous mice are born at less than the expected Mendelian rate, indicative of embryonic lethality (PubMed:10400615, PubMed:10619865). After weaning, mice display decreased pilocarbine-induced saliva secretion, and their saliva displays increased osmolality and viscosity (PubMed:10400615, PubMed:18027168). Mice display reduced Ca2+ entry and loss of regulatory volume decrease in response to hypotonicity in acinar cells. HTS-stimulated Ca2+ entry is significantly decreased in submandibular gland acini and almost completely abolished in parotid acini (PubMed:16571723). Lung airspace-capillary osmotic water permeability is strongly decreased. In contrast, there is no change in alveolar fluid clearance (PubMed:10619865). Paws of mutant mice display normal sweat secretion (PubMed:12042359). Tear secretion is not changed in mutant mice (PubMed:18027168)
Some mutants appear to be defective in mating because they are unable to locate the mating partner
Leads to a reduced growth rate and a delayed conidiation
Decreases the ability to extend O-linked, and possibly also N-linked, mannans. Leads to hypersensitivity to cell wall-damaging agents, and to a reduction of cell wall mannosylphosphate. Leads also to resistance to killing by the iron-chelating protein lactoferrin
Growth inhibited by 100 uM chlorite during aerobic log-phase growth, no expression of the SigF regulon (Dsui_0156 to Dsui_0159). Growth of a double sigF-yedY2 mutant is completely inhibited by 20 mM chlorite
Homozygous knockout mice display an accumulation of glucosylceramides in testis, brain and liver (PubMed:17080196). The accumulation of glucosylceramides in Sertoli cells alters sperm shape and males exhibit impaired fertility (PubMed:17080196). Despite the bile acid glucosidase and transferase activities measured in vitro, bile acid metabolism is normal in knockout mice (PubMed:17080196). No obvious neurological symptoms, organomegaly or lifespan alteration are observed (PubMed:17080196). Cholesterol metabolism and protein glycosylation are also normal in these mice (PubMed:17080196)
Albino seeds that fail to germinate or yield very slow-growing seedlings and stunted plants. The seeds of the double mutant plants cfm3a-4 and cfm3b-2 fail to germinate
Increased apoptosis and reduced neurogenesis in the hippocampus. Spatial memory formation is mildly impaired
Weak impact on meiosis such as formation of some chromosome bridges at late anaphase I and telophase I in forming pollen, but severe effects on development, fertility, somatic homologous recombination (HR) and DNA repair, especially in plants lacking PDS5A, PDS5B, PDS5C, PDS5D and PDS5E
Embryonic lethality when homozygous, due to growth arrest at the late globular stage
Hyponastic growth, aberrant pavement cell and stomatal morphology in cotyledons, and defective trichome formation
Overbranched trichomes
Accumulation of DNA damage leading to constitutively activated DNA damage responses (DDR) (PubMed:24207055). Increased basal expression of pathogenesis-related (PR) genes (e.g. PR1) and hypersensitive response (HR) (PubMed:16766691, PubMed:17369431, PubMed:17360504, PubMed:20935179, PubMed:21149701, PubMed:21320694). Chromatin modifications at the PR-1 promoter that mimic induction (e.g. AcH3 and MeH3K4) (PubMed:16766691). Dwarf plants with distorted leaves, reduced root length, early flowering and reduced fertility (PubMed:16766691, PubMed:17360504, PubMed:21320694). Decreased susceptibility to the beet cyst nematode H.schachtii (PubMed:18321188). Mutant plants display enhanced resistance to the bacterial pathogen P.syringae pv. tomato DC3000 (PubMed:22826500). Constitutively elevated levels of somatic homologous recombination (PubMed:17360504). Suppressor of the npr1-1 mutant phenotypes, including systemic acquired resistance (SAR) and normal levels of PR1 restoration (PubMed:10458608, PubMed:20935179)
Not essential for the ability to invade cultured HeLa cells (the invasive phenotype)
Abolishes the production of (2R)-annullatin F, (2S,9S)-annullatin D, (2R)-annullatin G and (2S,9S)-annullatin H, and leads to the accumulation of (8S)-annullatin E
No visible phenotype when grown under standard conditions (PubMed:22932846). Loss of oleate-activated PLD activity and increased sensitivity to stress damage and to H(2)O(2)-induced cell death (PubMed:14508007). Hypersensitivity to hyperosmotic stress (PubMed:19017627). Impaired stomatal closure in response to nitric oxide donor (PubMed:22932846). Attenuated lipid degradation retarding abscisic acid (ABA)-promoted leaf senescence (PubMed:23762411). Decreased penetration resistance against non-host fungi (PubMed:23979971). No effect on ABA-induced stomatal closure (PubMed:22392280). Pldalpha1 and plddelta double mutants have a suppressed ABA-induced stomatal closure (PubMed:22392280)
Loss of export of cell wall protein GspB; transcription should not be affected. Non-glycosylated GspB may form aggregates
RNAi-mediated knockdown in asymmetrically dividing male germline stem cells (GSCs), results in loss of centriole duplication and thereby leads to complete loss of centrosomes (and centrioles) from all male germ cells (PubMed:32965218). In GSCs, results in the enrichment of both SAK and Sas-6 at the remaining elongated mother centrioles (PubMed:32965218). Does not change Klp10A centrosome localization in male germline stem cells (PubMed:32965218). RNAi-mediated knockdown in symmetrically dividing spermatogonia, does not affect normal centrosome duplication (PubMed:32965218)
Blocked in the perpetuation of CNN, CG and CNG methylation in repeated endogenous DNA. Reduction of heterochromatin association and methylation into chromocenters, coincident with decondensation and losses in cytosine methylation at pericentromeric major repeats such as 5S gene clusters and AtSN1 retroelements during interphase, independently of siRNA accumulation. Altered cell-to-cell movement of siRNA beyond the vasculature. Reduced 35S promoter homology-dependent transcriptional gene silencing (TGS) in transgenic plants
No visible phenotype; due to the redundancy with gnb5a. Simultaneous knockout of gnb5a and gnb5b results in no striking dysmorphologic features, but the larvae show impaired swimming activity, remain small, and generally die 7-14 days post fertilization (dpf), most likely as a result of their inability to feed
Slight decrease in plant height and increased sensitivity to drought and salt stresses
Mutants are viable and generally healthy although anemic (PubMed:32923640). Most females are sterile or severely subfertile while males are fertile (PubMed:32923640). Marked reduction in the number of primordial follicles, indicating a reduced ovarian reserve, and oocytes have reduced nuclear envelope stiffness (PubMed:32923640)
100- to 10000-fold decrease in survival after IR (PubMed:25049088, PubMed:25425430). Double radA-radD deletions have nearly 10(6)-fold lower survival upon IR, and the double mutant is more severely affected by UV radiation than either of the single mutants alone (up to 100 J/m(2)). The single mutation is more sensitive to dsDNA breaks induced by CFX, the double radA-radD mutant is inviable upon CFX treatment; the SOS response is slightly induced in the single and more induced in the double mutant. No effect on RecA-mediated conjugational DNA recombination (PubMed:25425430). In another study double radA-radD deletions are sensitive to CFX but not to UV (up to 40 J/m(2)) or azidothymidine (AZT) (PubMed:25484163). Deletion of radD leads to an increase in DNA crossing over, DNA repeat deletion and DNA repeat expansion; double uup-radD deletion increases the phenotypes. Single radD deletion has no effect on cell growth or filamentation, double uup-radD deletions are filamentous and lack defined nucleoids. Single deletion is more sensitive to CFX (PubMed:31665437)
Deficient-mice developed normally until the adult stage. No anatomic abnormalities are detected, mice are fertile and they show normal spermatogenesis and testicular morphology. The lack of phenotype may be due to a compensatory function of other histone H1 subtypes
Narrow rosette leaves with altered venation pattern
Reduced fertility and seed numbers due to defects in gametogenesis
Cells lacking this gene accumulate MurNAc phosphate. Deletion of this gene increases fosfomycin sensitivity
Pale yellow green leaf phenotype. Reduced levels of plastid ribosomes and defects in plastid mRNA metabolism
Normal growth of blood-stage parasites (PubMed:33743509). Developmental stages in the mosquito vector are normal with no difference in oocyst numbers and salivary gland sporozoites (PubMed:33743509). C57BL/6 mice infected with knockout sporozoites have a 2-day delay in the appearance of blood-stage infection and have reduced parasitemia (PubMed:33743509). Formation and release of merosomes from infected mouse hepatocytes are normal (PubMed:33743509). However, merosome infectivity towards host erythrocytes is partially impaired resulting in a delay in the appearance of blood stage infection (PubMed:33743509)
Homozygous embryonic lethal, while hypomorphic alleles (reduction in gene dosage) lead to extra photoreceptor cells in the eye, ectopic veins in wings and severe defects in oogenesis in females. Females with the germ line mutation lay only a small number of eggs. The laid eggs are abnormal, approximately 77% of the laid eggs are shorter and some display severe defects in chorion formation. These embryos could not escape the embryonic stage and progress beyond the two-nuclei stage. Null mutants are viable and fertile exhibiting a mild, but significant increase in wing vein material. They are slightly rough eyed. Null mutation affects the R3 and R4 photoreceptors with a low penetrance resulting in either the loss of one cell of the R3/R4 pair or in the misdifferentiation of these photoreceptors. R3 and R4 are often symmetrically arranged in the eye in opposite to the asymmetrical positions they adopt in wild-type ommatidium. Ommatidia of the null mutants often contain a mystery cell having differentiated as a photoreceptor. Null mutants also exhibit mild delay in tracheal branching. Delay in 12% dorsal branches (DBs) compared with 0.3% in wild-type between metameres 4 to 8 that have reached the dorsal midline at stage 14-15. Null mutants have defects in cell intercalation
Loss or reduction of expression of about 30 genes in response to hyperosmotic (0.5 M sorbitol) or salt (0.5 M NaCl) stress. Most of these genes encode known heat-shock proteins
Not essential, eliminates the NaCl sensitivity of an rnlA deletion mutant
Mice lacking Ccdc66 are viable but display degeneration of the retina. Initial formation of the retina is normal up to postnatal stage P10. Malformation of photoreceptors develops around P13. The degeneration progresses slowly until 3 months after birth, when the outer nuclear layer is reduced to 5-6 rows. From 5 to 7 months, only a thin outer nuclear and photoreceptor layer with severely shrunken outer and inner segments is preserved. It is associated with impaired photoreceptor function with early visual impairment detectable 1 month after birth and progressing slightly until 7 months
Targeted disruption in mice results in animals with a severe defect in early B-cell development. EBF1 heterozygous mice exhibit an approximately 2-fold decrease in the number of cells in the pro-B lymphocyte compartment, indicating that normal B-cell development depends on the presence of two wild-type EBF1 alleles (PubMed:7542362). Adipocyte-specific deletion mutant reveals a modest reduction of UCP1 expression, a mitochondrial protein responsible for thermogenic respiration. Double mutants EBF1/EBF2 show a more severe reduction of UCP1 expression (PubMed:32130892)
Non-viable and shrunk seeds, and embryonic lethality when homozygous
Abolishes conidiation (PubMed:26283234)
Mutants are viable and don't show growth retardation in the pre- and postnatal periods in either female or male mice (PubMed:26402067). Animals are fertile, even in the case of mating between mutants. They exhibit abnormal behaviors related to cognition, including attention, impulsivity, and working memory (PubMed:26402067). Animals show a reduced recovery rate of noradrenaline in the prefrontal cortex region (PubMed:26402067)
Depletion of ffh (SRP) and ftsY results in differential expression of 14 proteins
Abolishes the production of arthripenoids but leads to the accumulation of new product which has no double bond in the side chain
Reduced callus formation from somatic cells associated with an impaired reduction of H3K9me3 deposition and lower accumulation of H3K36me3 at LBD16 and LBD29 loci during leaf-to-callus transition (PubMed:29923261, PubMed:29184030). Lower lateral root formation and impaired ability to form adventitious root formation from wounded leaf tissues (PubMed:29517958). The double mutant jmj30-2 atxr2-1 is strongly impaired in callus formation (PubMed:29923261)
Mutants show increased sensitivity to methyl viologen and acriflavine
Worms show maternal effect lethality producing 95% inviable progeny from hermaphrodites. A high proportion of those that survive are male. Mutants display severely reduced crossing over, resulting in lack of chiasmata between homologous chromosomes and consequent missegregation
Cells lacking this gene are glutamate auxotrophic in glucose minimal medium, show a strong growth defect, and secret large amounts of acetate. Deletion causes a strong selection pressure for secondary mutations within the gltA gene, which might be caused by a growth-inhibitory level of cytoplasmic citrate
Knockout mice exhibit very early embryonic lethality before E7.5. Conditional ubiquitous or kidney-specific knockdown results in polycystic liver and kidney phenotypes, respectively
Lipid contents in the intestine increase by 44%, but increase is less in response to high levels of dietary calcium
Reduces the binding of human FH and C4Bp as well as of human immunodeficiency virus (HIV) gp160 protein onto C.albicans cell surface (PubMed:21844307). Reduces ability to form hyphae (PubMed:21844307)
Knockout mice with a conditional deletion of Insig1 in the liver and a germline deletion of Insig2 overaccumulate cholesterol and triglycerides in liver: despite this accumulation, levels of nuclear sterol regulatory element-binding proteins (SREBPs) are not reduced (PubMed:16100574). The amount of HMGCR is also elevated, caused by impaired degradation of the enzyme (PubMed:16100574). Knockout mice with a germline deletion of both Insig1 and Insig2 die within one day of birth (PubMed:16100574, PubMed:16955138). After 18.5 days of development, embryos lacking both Insig1 and Insig2 show defects in midline facial development, ranging from cleft palate to complete cleft face: middle and inner ear structures are abnormal, but teeth and skeletons are normal (PubMed:16955138). The livers and heads of embryos lacking both Insig1 and Insig2 overproduce sterols, causing a marked buildup of sterol intermediates (PubMed:16955138)
Deletion of this gene leads to a loss of lactate racemase activity
Embryo defective arrested at the globular stage (PubMed:15266054). Null mutations are homozygous lethal (PubMed:15266054)
Disruption mutant is more sensitive to growth inhibition by peracetic acid than the parent strain. The sensitivities to hydrogen peroxide and acetic acid are not affected
Deletion mutant forms small colonies on selective plates. Forms enlarged cells, with a highly elevated content of DNA
Leads to a clear growth defect on medium containing cysteine or glutathione as sole sulfur source
Cells display an increase of ica transcription of about 100-fold, and poly-N-acetylglucosamine polysaccharide (PNAG) synthesis about 10-fold. Adherence to polystyrene microtiter wells also increases. Double deletion of icaR and tcaR increases ica transcription about 500-fold, and poly-N-acetylglucosamine polysaccharide (PNAG) synthesis about 100-fold. Adherence is significantly greater than that of the single icaR mutant
RNAi-mediated knockdown is lethal at third instar larva stage and shows decreased levels of sicily, ND-42, and ND-30
Embryonic lethal with embryos displaying a fluid-filled appearance and dying at hatching. RNAi-mediated knockdown results in high levels of embryonic and larval lethality. Dead and dying mutants do not respond to touch, display extensive vacuolation, molting defects which include unshed cuticles and in particular male specific molting defects that prevent unfurling of the mature tail rays. Surviving mutants are shorter in length and display defective egg-laying and abnormal vulval morphogenesis
Slight enhancement in abscisic acid-inhibited germination. Redundant with LECRKA4.2 and LECRKA4.3
Higher root hair density
Mutant animals appear normal and fertile and produce the expected Mendelian ratio of heterozygous and homozygous descendents. They are lean and resistant to diet-induced obesity and diabetes. They exhibit higher metabolic rate, lipolysis in brown adipose tissue and core body temperature when subjected to cold treatment. Mutant females are unable to properly feed their pups who die within 3 days postpartum due to severely reduced milk lipids
Does not show any remarkable difference in production of B-group aflatoxin (AFB1 and AFB2) compared to the wild-type but leads to significant decrease in production of G-group aflatoxins (AFG1 and AFG2) (PubMed:18486503). Leads to the accumulation of a yellow AFG1 precursor called NADA (PubMed:18486503, PubMed:19325828)
Midgestation lethal
Single deletion has a wild-type phenotype, a double ccmK3-ccmK4 deletion has slightly larger, aggregated instead of spatially separated carboxysomes, and has a photosynthetic affinity for inorganic carbon between wild-type and carboxysome-less strains (PubMed:22928045). In another study single mutant is wild-type, double ccmK3-ccmK4 mutant has impaired growth rate; ccmK3 does not complement the double deletion, while ccmK4 does (PubMed:30389783)
Impairs the production of chrysogine
In the presence of excess dietary zinc, reduced transcription of genes such as cdf-2, ttm-1b and mtl-1, which are required for zinc homeostasis, and retarded growth as compared to wild-type
Elongated cellular morphology at division
No visible phenotype (PubMed:30067821). Cells show complete loss of actin histidine methylation (PubMed:30526847)
Conditionnal double mutant plants lacking both TED6 and TED7 have aberrant secondary cell wall (SCW) formation of root vessel elements
Leads to growth defects with sparse aerial hyphae, and reduced number of nuclei in hyphal cells (PubMed:35323036). Results also in complete elimination of sporulation and trap formation and a remarkable decrease in the ability to trap nematodes (PubMed:35323036). Leads to defective cell wall biosynthesis and increased stress susceptibility (PubMed:35323036). Results in the up-regulation of the proteasome, membranes, ribosomes, DNA replication, and cell cycle functions, and the down-regulation of MAPK signaling and nitrogen metabolism (PubMed:35323036)
First leaves are elongated and curl downward. Increased number of hydathodes per leaf. Accelerated appearance of abaxial trichomes. Presence of stigmatic tissue in the middle of the septum at the apical end of the carpels
Impairs the production of tropolones but leads to the accumulation of talaroenamine (PubMed:22508998)
Abolishes the production of ACT-toxin and impairs the formation of lesions on leaves sprayed with conidia (PubMed:18986255). Does not affect growth rate of cultures, sporulation, and spore germination (PubMed:18986255)
Knockout NUPR1 mice are viable and seem normal. Mouse embryonic fibroblast grown more rapidly compared to wild type (PubMed:11896600). Knockout NUPR1 mice are fertile. However female present a delay in female sexual maturation and male develop a phenotype similar to Sertoli-cell-only syndrome (SCOS) (PubMed:18495683)
Reduced levels of arabinogalactan proteins (PubMed:26690932, PubMed:25974423). Defects in root hair growth, root elongation, pollen tube growth, flowering time, leaf development, silique length and inflorescence growth. Increased sensitivity to salt stress (PubMed:25974423)
Mutants are deficient in mitochondrial protein synthesis
RNAi-mediated knockdown leads to an increase in seam (stem) cell number variability
Cells are viable and complete sporulation normally at 28 degrees Celsius, but form four-spored asci poorly at 34 degrees Celsius. In sporulation-defective cells, the forespore membrane (FSM) is formed abnormally and F-actin localization is aberrant. Only fragmented or anucleated FSMs are formed and F-actin dots remain at peripheral regions of mother cells even during meiosis II. Sporulation defect is alleviated by overexpressing myo1 from which IQ domain is deleted
Mutants weight more, have increases adiposity associated with increased spontaneous food intake and exhibit reduced basal energy expenditure and physical activity (PubMed:23468844). Female mutants exhibit some additional alterations in reduced basal energy expenditure and physical activity (PubMed:23468844). At behavioral level, they exhibit a task-dependent increase in locomotion and exploration and reduced anxiety-related behaviors across tests. Their spatial working memory and social behaviors are not affected. They form an increased association with conditioned stimulus in fear conditioning testing and also display significantly improved prepulse inhibition (PubMed:28081177)
Cerebrum-specific knockout of the gene resulted in impaired postnatal growth, hyperactive behavior, and early death. Analysis of mutant mice at various stages of embryonic development showed cerebral hypoplasia with defects in neocortical lamination, abnormal neuronal differentiation with decreased neuronal progenitor cells, and aberrant neuronal migration. These defects were associated with impaired cell proliferation, increased apoptosis, defective neurosphere formation in vitro, and decreased H4K16 propionylation and acetylation in the cerebrocortical neuroepithelium
Mice exhibited insufficient neural tube closure at the rostral end and malformation of neural-crest-derived facial bones especially the mandible. After birth, mice were significantly smaller than their littermates and most of them died within 2 months
Abolishes the production of itaconic acid (PubMed:26639528)
Deletion causes an increase in metal sensitivity at 15 mM manganese, but does not affect invertase glycosylation. Deletion shows increased sensitivity to external iron, which is suppressed by MRS3 or MRS4 overexpression requiring oxygen but not respiration, and exacerbated by ectopic expression of the iron transporter FET4. Deletion also results in decreased vacuolar iron content and decreased iron stores, which affect cytosolic iron levels and cell growth. Deletion together with MRS3 and MRS4 restores cellular and mitochondrial iron homeostasis to near normal level, corrects the MRS3 and MRS4 double deletion phenotype (which shows increased resistance to cobalt but decreased resistance to copper and cadmium), and has near normal levels of aconitase activity. When overexpressed, maintains respiratory function in a YFH1 deletion mutant regardless of extracellular iron concentration, activates the iron-dependent transcription factor AFT1 resulting in an increase in iron uptake, cytosolic iron accumulation and a change in copper metabolism. Overexpression prevents excessive mitochondrial iron accumulation by limiting mitochondrial iron uptake and results in increased expression of the high affinity iron transport system composed of FET3 and FTR1. Overexpression also suppresses the rapamycin-resistant phenotype of PMR1 deletion mutant
In plants silenced with microRNAs, functional LHCII thylakoid protein complexes where LHCB2 is replaced by LHCB1. However these LHCII complexes are impaired in light state transitions, leading to stunted growth in high light
No visible phenotype. The number of natural killer T (NKT) cells in the liver is selectively decreased (around 50%) in mutant mice (PubMed:25652366)
Delayed and decreased induction of the extracytoplasmic-stress response
Mice are developmentally retarded, disorganized, and embryonic lethal by 9.5 dpc. Mutant cells appear to replicate DNA but show reduced levels of mitosis and widespread cell death by 8.5 dpc. DNA damage appears to precede nuclear condensation at 7 dpc. Reduced levels of histone H3 methylated at 'Lys-4 in developing tissues
Disruption mutant does not show any signs of fruiting body formation even after 120 hours of starvation (PubMed:18854146). Sporulation is strongly reduced (PubMed:18854146). The precursor protein p25 accumulates as in the wild type strain, but p17 is not detected (PubMed:18854146)
Not essential for growth, 80% reduction in NHEJ (in strain Erdman)
Plants have a reduced amplitude and accuracy of circadian rhythms
Deletion mutant does not produce C-2 methylated triterpenoids
No visible phenotype, magnetic response is slightly reduced and magnetosome membrane formation is wild-type (PubMed:20212111). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
Abnormal cell wall organization in root hair and root epidermal cells, probably due to altered endosomal trafficking, and leading to short and branched root hairs (PubMed:24737717). Mislocalization of SYP41 in root hair cells (PubMed:24737717)
No visible phenotype, due to the redundancy with NET1A. Net1a and net1b double mutant shows a significant acceleration in root-cell expansion
Some knockouts exhibit maternal-effect embryonic or larval lethality (PubMed:24402584). Germ lines are smaller (PubMed:26739451). RNAi-mediated knockdown reduces brood size (PubMed:26739451). Simultaneous knockouts of ham-3 do not survive beyond the L2 larval stage (PubMed:24402584). Simultaneous RNAi-mediated knockdown of ham-3 at the L1 larval stage causes sterility, while at the L3 larval stage, causes embryonic lethality for the progeny (PubMed:26739451). The sterile animals resulting from simultaneous RNAi-mediated knockdown of ham-3 at the L1 larval stage develop smaller germ lines (PubMed:26739451). Simultaneous RNAi-mediated knockdown of ham-3 also results in vulva protrusion and ectopic expression of egl-17 in cells derived from the vulval precursor cells P5.p and P7.p (PubMed:26739451)
No growth phenotype when grown in culture, no release of phthiocerol dimycocerosates (PDIM) to the culture filtrate. Attenuated virulence, about 80-fold less recovery of bacteria from lungs of 3 week infected BALB/c mice
Mutant males are infertile, but their sperm retains some fertility within in vitro fertilization assays. Spermatozoa exhibit a higher incidence of morphological abnormalities as compared to wild-type, accentuated by hypotonic challenge and deficits in motility, in the absence of bicarbonate
Deletion shows a severe inhibitory effect on chemotaxis, although swarming is not completely abolished (PubMed:11535789). Mutant shows also defects in mouse colonization (PubMed:19332820)
Marked reduction in the numbers of natural killer cells, low levels of Il2rb expression in the precursor hematopoietic stem cells and severe lymphoid hyperplasia in the small intestine
Impaired chitin-induced defense responses such as MAPK activation (e.g. MPK3/6) and callose deposition leading to reduced disease resistance against fungal (e.g. A.brassicicola) and bacterial (e.g. P.syringae pv. tomato DC3000 hrcC) infections
Decreased levels of plastoquinone-9 (PQ-9) and plastochromanol-8 (PC-8) in leaves (PubMed:23913686). The double mutants sps1 and sps2 exhibit an albino phenotype and are devoided of both PQ-9 and PC-8 in cotyledons (PubMed:23913686)
Ineffective symbiosis with arbuscular mycorrhiza (AM) fungi (e.g. Rhizophagus irregularis, Simiglomus hoi and Acaulospora scrobiculata), with rare colonizations characterized by malformed arbuscules (PubMed:25971550, PubMed:28789611). Reduced AM fungi-mediated induction of AM-related genes involved at later stages of symbiosis (e.g. VAPYRIN, PT4, PT5, STR, STR2, RAM2, SBT and BCP) (PubMed:25971550, PubMed:28789611)
Both male and female mice are sterile. Males do not make sperm and have much smaller testes, a characteristic of mutants with meiotic defects. Testes show an absence of post-anaphase I cells, indicating loss of spermatocytes at this stage (stage XII seminiferous tubules). In females, ovary size is similar to that of wild-type animals, and high numbers of oocytes are present in mature animals. Complete synapsis is achieved but crossover complexes are absent. Rnf212 is haploinsufficient: although herozygous males are fertile and have wild-type sperm counts, they show significantly fewer Mlh1 foci and fewer chiasmata. Haploinsufficiency suggests that Rnf212 is a limiting factor for crossover designation and/or reinforcement
Lethal. In heterozygous plants, aborted ovules
Mutations abolish synthesis and secretion of both EsxA and EsxB, without affecting their transcription
No visible phenotype under normal growth condition (PubMed:18024555). No visible phenotype under short day (SD) conditions (PubMed:20179139). Reduced growth and pale green leaf phenotype under long day (LD) conditions (PubMed:20179139, PubMed:22829322)
Worms exhibit increased oxidative stress and reduced brood size (PubMed:18073424). RNAi-mediated knockdown suppresses the slow germline development and the delayed egg-production of clk-1 mutants (PubMed:14657502). RNAi-mediated knockdown causes an increase in the number of oocytes with mpk-1 phosphorylation (PubMed:20380830)
No effect on pollen germination and growth. Prk1 and prk2 or prk2 and prk5 double mutants have no effect on pollen germination and growth. Prk1, prk2 and prk5 triple mutant shows reduced pollen tube elongation
Overproduction and aberrant placement of lateral root primordia
Larval lethal
Mice show severely impaired post-injury muscle regeneration
Abolishes the production of penigequinolone and accumulates the epoxide formed by penE
No aerobic growth on succinate, 80% reduction of succinate dehydrogenase (SDH) activity (PubMed:22474332). Significantly decreased anaerobic growth on glycerol fumarate medium, 70% reduction in fumarate reductase activity (PubMed:24374335). Low covalent attachment of FAD to FdrA or SdhA (PubMed:26644464)
Affects the meiotic recombination and the formation of viable spores
Disruption of the gene reduces regX3 expression during phosphate starvation (PubMed:25344463). Disruption mutant shows a marked growth defect and premature entry into stationary phase relative to the isogenic wild-type during phosphate depletion (PubMed:25344463). The senX3-deficient mutant shows markedly higher survival relative to the regX3-deficient mutant upon prolonged nutrient starvation and in the lungs of mice (PubMed:25344463)
Deletion of the gbsAB genes abolishes the choline-glycine betaine synthesis pathway and the ability of B.subtilis to deal effectively with high-osmolarity stress in choline- or glycine betaine aldehyde-containing medium (PubMed:8752328). No effect on vanillin degradation (PubMed:26658822)
Simultaneous knockout of P2rx2 and P2rx3 results in reduced pain-related behaviors in response to intraplantar injection of formalin and reduced urinary bladder reflexes and decreased pelvic afferent nerve activity in response to bladder distension. Neurons have minimal to no response to ATP (PubMed:15961431). Simultaneous knockout of P2rx2 and P2rx3 results in defects in taste responses in the taste nerves and reduced behavioral responses to sweeteners, glutamate and bitter substances (PubMed:16322458)
Ineffective symbiosis with arbuscular mycorrhiza (AM) fungi (e.g. Rhizophagus irregularis) with abnormal AM-related genes expression, leading to rare colonizations characterized by malformed arbuscules
Loss of spectinomycin resistance
The majority of animals die within five days following dauer-like arrest, but surviving animals grow to the L4 larval developmental stage or adulthood. Animals display a dauer-like phenotype in response to pheromone and starvation, form dauer alae and have a constricted pharynx. Unlike dauer defective animals, these animals are not temperature sensitive and do not complete dauer morphogenesis. Animals have an increased propensity to accumulate fat. RNAi-mediated knock-down also induces a dauer-like phenotype and fat accumulation. However, knock-down does not influence the lifespan of animals
Mutants are not able to grow on nitrobenzene
Endosperm development arrested
Depressed long-term potentiation (LTP) at Schaffer collateral-CA1 synapses, NMDAR-dependent spatial learning and memory. Rescued by the ampakine CX546 at physiological doses
Mrp5 knockout mice are viable with no overt phenotypes, deficient mice accumulate endogenous glutamate conjugates in several tissues, including the inhibitory neuropeptides N-acetylaspartylglutamate (NAAG) and N-acetylaspartyldiglutamate (NAAG2), but brain in particular (PubMed:26515061). Abcc5-/- mice show lower white and brown adipose tissue and increased glucagon-like peptide 1 (GLP-1) release from enteroendocrine cells of the small intestine, and are more insulin sensitive (PubMed:31338999)
Plants exhibit a severe defect in homolog synapsis recombination and bivalent formation in prophase 1, resulting in random chromosome distribution and formation of abnormal meiotic products
Does not affect germination efficiency nor hyphal growth rate, but considerably reduces the intracellular and extracellular chitinase activities
Inactivation of the gene does not affect rifamycin production significantly
Male mice are sterile, characterized by defects in sperm tail structure and diminished sperm motility (PubMed:32976492, PubMed:33536340). The mitochondria of the sperm-tail has an abnormal irregular arrangement, abnormal diameter, and structural defects and the axoneme structure of sperm tails is severely disturbed (PubMed:32976492). Sperm mitochondria cannot form a proper mitochondrial sheath at the subsequent mitochondrial compaction step, although they can coil around the flagellum (PubMed:33536340)
Deletion of the putBCP operon abolishes L-proline utilization
Mutant plants are hypersensitive to nitrogen or carbon starvation (PubMed:16040659). Early senescence phenotype (PubMed:16040659, PubMed:19773385). Hyper accumulation of salicylic acid (SA) (PubMed:19773385). Increased number of peroxisomes and accumulation of peroxisomal proteins (PubMed:24463818)
Male mice are viable but not fertile, due to massive apoptosis of spermatocytes. They have a reduction of testis weight of 68% and no detectable sperm in their epididymis. The seminiferous tubules contain reduced numbers of post-meiotic round, elongated spermatids and accumulation of pyknotic and zygotene-like nuclei. Female mice show severe prenatal lethality, but the rare surviving are fertile. Fibroblast cells display spontaneous chromosome instability and fragility (PubMed:14585983, PubMed:16488448, PubMed:28708824). UBR1 and UBR2 double knockout embryos die at midgestation, with defects in neurogenesis and cardiovascular development. These defects included reduced proliferation as well as precocious migration and differentiation of neural progenitor cells (PubMed:16606826)
Cells lacking this gene exhibit an abnormal cortex structure in mutant endospores 6 hours after the onset of sporulation, an indication of cortex degeneration. In addition, they display a significant decrease in the dipicolinic acid content of mutant spores
RNAi-mediated knockdown in larvae results in increased survival and mobility in response to a constant temperature of 36 degrees Celsius, when compared to wild-type
Plants display chlorosis prior to leaf expansion, but exhibit slow greening, remain autotrophic, can grow to maturity, and set viable seed (PubMed:22770232). Albino phenotype of seedlings grown on sucrose-free medium associated with reduced plastid-encoded RNA polymerase (PEP)-dependent gene expression and altered chloroplast development. Delayed greening of seedlings grown on sucrose-containing medium (PubMed:24019900)
Mutant cannot grow on syringate, but grows on vanillate
Homeotic transformation of lodicules, stamens and carpels into lemma- and palea-like structures
Deletion mutant grows normally on glycerol but shows impaired growth on cholesterol. It accumulates 5OH-HIP in the culture supernatant
RNAi-mediated knockdown results in reduced levels of DIP2
Leads to abnormal splicing of introns featuring long spacing between the branchpoint and 3'-splice site (PubMed:36095128). Decreases protein level of genes involved in chromatin organization (PubMed:36095128). Sensitive to cold; simultaneous knockout of cay1 or sde2 leads to a growth defect at both higher and lower temperature (PubMed:36095128)
Paralyzed flagella, leading to a loss of motility. Electron microscopy image averages show that a density is missing from the inner dynein arms region in axonemes, which probably accounts for the paralyzed phenotype
Sensitive to DNA damage
Leads to lower intracellular accumulation of SW and higher extracellular yield of SW
Abolishes the production of most pyranterreones, but accumulates high amounts of pyranterreone 5
No visible phenotype, but increased ploidy levels
Knockout male mice are infertile and have acephalic spermatozoa, while females are fertile and show normal follicle development
Cells lacking this gene do not require either aromatic amino acids (AroAAs) or p-aminobenzoic acid (PABA) for growth, and growth is similar to that of the wild-type strain in minimal medium with acetate only. One possible explanation for this unexpected phenotype is that a second, presently unidentified ORF complements the function of aroB' in M.maripaludis
The wild-type strain metabolizes sucrose with formation of acetate, mannitol, glucose, kestose and levan while cells lacking this gene do not metabolize sucrose, do not liberate glucose from sucrose, and do not form mannitol, acetate, kestose or levan. Growth and acidification are lower in wheat doughs prepared with the deletion mutant than in those employing the wild-type
Plants exhibit unfertilized ovules but normal pollen tube attraction
RNAi-mediated knockdown results in extended lifespan
Deletion of both ompC and ompF confers resistance to colicin E5 and to the toxic activity of CdiA-EC536
Lethality, due to increased levels of LpxC, which increases the level of LPS in the cell and results in formation of abnormal membrane structures in the periplasm. Lethality is suppressed under conditions in which LPS synthesis is reduced (PubMed:10048027). Disruption confers resistance to cellular contact-dependent growth inhibition (CDI) CdiA of E.coli strain 536, E.cloacae strain ATCC 13047 and of Y.pestis strain A, but not to CdiA from E.coli strain 93 toxin (PubMed:26305955)
RNAi-mediated knockdown causes a loss in phenoloxidase (PO) activity, a reduction in microbe melanization and CLIPA14 proteolytic cleavage in response to S.aureus infection (PubMed:31765430). Also, causes a reduction in microbe melanization and CLIPC9 proteolytic cleavage in response to E.coli infection (PubMed:33045027). RNAi-mediated knockdown in the susceptible strain G3 infected with P.berghei, does not affect the number of oocysts and ookinete melanization; however, severely reduces ookinete melanization caused by CTL4 RNAi-mediated knockdown (PubMed:31765430). Increases susceptibility to fungus B.bassiana-mediated infection but not to P.berghei, E.coli or S.aureus-mediated infection (PubMed:31765430)
Normal physiological responses to hypertonic stress, such as accumulation of organic osmolytes and activation of osmoresponsive genes, are constitutively activated with mutants exhibiting resistance to normally lethal levels of hypertonic stress
Non-essential, it can be deleted. Disruption suppresses alanine dehydrogenase activity, impairs the utilization of alanine as a sole nitrogen source while cells grows to a 10-fold decreased saturation density under anaerobic conditions
Plants exhibit two-branched trichomes instead of three-branched trichomes
Delayed development of the powdery mildew fungus E.cruciferarum. Increased cell death upon A.alternata f.sp. lycopersici (AAL) toxin treatment
Embryonic lethality (PubMed:23673617). Conditional deletion in developing juvenile mice leads to spermatogenic defects (PubMed:25153837)
No gross phenotype. Males have significantly reduced fertility. Testis weight, testis histology and sperm counts are normal. Approximately 25% of sperm have morphological defects in the sperm head and sperm nucleus, while morphology of the sperm flagellum appears normal. Capacitation-induced sperm motility is initially slightly reduced but then recovers. Frequency of both spontaenous and P4-induced acrosome reactions are significantly reduced. In an in-vitro fertilization assay, spermatozoa are able to bind and penetrate the oocyte perivitelline space but fertilizing capacity is severely impaired
RNAi-mediated knockdown in a lin-17 n671 mutant background causes 8 percent of animals to produce more than 22 vulval cells (overinduction)
Death at pupal stage. Weaker mutants that live to adulthood exhibit reduced wing width
Abolished production of cryptosprioptide C and D, but retains the production of cryptosporioptide A, however, in smaller quantities
Mice exhibit no developmental defects in T- or B-cells in thymus or bone marrow, but increased antibody responses and sensitivity to antigen-induced 'experimental autoimmune encephalomyelitis'. T-cells lacking Btla show increased proliferation with a heightened response to anti-CD3 and a slightly greater response to stimulation with anti-IgM
Leads to a severe decrease in conidiation and virulence when ERG5A is also deleted (PubMed:23442154). The absence of both ERG5A and ERG5B seems not to affect the ergosterol production (PubMed:24785759)
White-core floury endosperm (PubMed:17297616, PubMed:27791174). Increased content of resistant starch (RS) (PubMed:27791174). Endosperm containing increased levels of amylose (PubMed:17297616, PubMed:21417378). Reduced content of long amylopectin chains with a degree of polymerization (DP) of 30 or greater (PubMed:17297616, PubMed:17586688). Reduced content of amylopectin chains with a DP of 6 to 8 and a DP of 16 to 20, but increased content of chains with a DP of 9 to 15 and a DP of 22 to 29 (PubMed:17297616, PubMed:17586688). Decrease in average length of amylopectin chains (PubMed:21417378)
Embryos display a delay in skeletal development and retarded growth. Embryonic fibroblasts proliferated slowly and displayed a delayed entry into S phase. Mice display loss of dendritic spines and impaired memory formation
Mice are viable and fertile, without apparent morphological or histological abnormalities in the placenta, but display a decrease in the numbers of surviving offspring. Display an abnormal accumulation of placental 3'UTR ARE-containing mRNAs. Exhibit also a decrease in ARE-containing mRNA decay in differentiated trophoblast stem cells
Mutant is sensitive to arsenate but is still resistant to arsenite
Cells show a complete conversion of nicotinate to 6-hydroxynicotinate
Embryo display cardiovascular defects and lethality with very high penetrance. Growth retardation is observed at 9.5 dpc with arrested heart development and lack of blood flow. By 10.5 dpc degeneration and necrosis are apparent throughout the embryo. Conditional lymphovenous valves knockouts show a complete loss of lymphatic valves (PubMed:27400125)
Strongly delayed growth on defined Evans agar supplemented with 25 mM ethanolamine as the sole nitrogen source. Growth defects showing no mycelial growth, only swollen and sporadic germinating spores in cells grown in defined liquid Evans medium supplemented with ethanolamine as the sole nitrogen source, but normal growth when supplemented with ammonium. Inhibited growth in complex medium supplemented with 25 mM ethanolamine as unable to utilize ethanolamine from the medium (PubMed:31113893). Normal growth on defined Evans agar supplemented with ammonium, nitrate, glutamate, glutamine, urea, putrescine, cadaverine, spermidine or spermine as a sole nitrogen source (PubMed:28487688, PubMed:35409114). Normal growth in complex LB medium supplemented with a mixture of 25 mM putrescine, 25 mM cadaverine, 25 mM spermidine and 25 mM spermine. No intracellular accumulation of polyamines (PubMed:35409114)
Cells lacking this gene are unable to grow on polygalacturonate (PGA) or digalacturonate, but can grow on galacturonate
Deletion mutants cause significantly less diarrhea in volonteers
In RNAi-mediated knockdown mosquitos infected with bacteria E.coli or S.aureus, bacteria melanization, prophenoloxidase (PPO) activation, and proteolytic cleavage of CLIPA28 and CLIPC9 are impaired; however, mosquito survival is not affected (PubMed:17537726, PubMed:33045027). Melanization of wound surfaces is normal (PubMed:17537726). Increased sensitivity to fungus B.bassiana (strain 80.2) infection characterized by reduced mosquito survival and increased levels of hyphal body colonies (PubMed:23166497). Impaired melanization of hyphae, but not of germinating conidia or germ tubes, caused by a failure to recruit prophenoloxidase PPO to hyphae (PubMed:23166497). Loss of phenoloxidase (PO) activity triggered during late but not early fungal infection (PubMed:23166497). RNAi-mediated knockdown in the resistant strain L3-5 infected with P.berghei, results in impaired ookinete melanization without increasing the number of live oocysts (PubMed:16922859). RNAi-mediated knockdown in the susceptible strain G3 infected with P.berghei has no effect on the response to parasite infection (PubMed:16922859, PubMed:33045027). Simultaneous RNAi-mediated knockdown of CLIPA8 and CTL4 in the susceptible strain G3 infected with P.berghei, abolishes ookinete melanization caused by RNAi-mediated knockdown of CTL4 (PubMed:16922859, PubMed:33045027). Simultaneous RNAi-mediated knockdown of SRPN2 and CLIPA8, does not rescue the formation of abdominal melanotic tumors caused by SRPN2 RNAi-mediated knockdown (PubMed:17537726)
Shortened cilia with various ultrastructural deformities and a disrupted association between IFT subcomplexes A and B
Male infertility (PubMed:32393636). Sperm are morphologically normal, exhibit normal motility and can penetrate the zona pellucida but are unable to fuse with the egg membrane (PubMed:32393636). No effect on amount or localization of sperm-egg fusion protein IZUMO1 (PubMed:32393636)
When associated with PI4KB2 disruption: aberrant root hair morphologies, and short and wavy pollen tubes
Mice do not display any apparent alteration in bile acid synthesis and cholesterol metabolism (PubMed:12543708). Macrophages however display impaired mitochondrial metabolism, due to increased cholesterol that triggers cytosolic mitochondrial DNA release and subsequent activation of the AIM2 inflammasome (PubMed:29033131)
Severed Morn4 null axons show significantly reduced and delayed axonal degeneration following axotomy and protection is evident for at least 72 hrs, whereas wild-type axons degenerate within the first 12 hrs
A double ccbL-ccbS deletion does not grow in air, grows well with 5% CO(2), a high-CO(2) requiring phenotype (hcr) and forms empty but otherwise normal appearing carboxysomes. Required for growth in ambient air (PubMed:31406332)
Homozygous deletion mutants grow slightly slower, but have no significant morphological abnormalities. In BALB/c mice, has reduced infectivity, which is characterized by a delayed and decelerated development of footpad lesions
Mutant mice show no obvious anatomical abnormalities associated with ciliary dysfunction
Leads to increased sensitivity to oxidative stress and raduces the virulence toward wheat plants (PubMed:17056706)
Results in the loss of zearalenone production (PubMed:21833740)
Abolished the utilization of glycerophosphoinositol(GroPIns) as a phosphate source (PubMed:21984707)
No alteration in flowering time, probably due to the redundancy with CDF1, CDF2 and CDF5
Completely abolishes the production of peniphenone D, penilactone D, penilactone A and penilactone B; but still retains the production of clavatol, hydroxyclavatol, crustosic acid and terrestric acid
RNAi-mediated knockdown results in temperature sensitive embryonic lethality with chromosomes displaying segregation defects with increased anaphase bridges and chromosome lagging
A mutant strain lacking rhd_2599, tusA and dsrE2, although not viable in liquid culture, is clearly sulfur oxidation negative upon growth on solid media containing sulfide, and shows massive accumulation of intercellular sulfur globules
No visible phenotype. Diminution of the starch content of developing seeds and increased lipid accumulation early during seed development
Mutants are unable to grow under iron-limiting conditions in the presence of anguibactin
No visible phenotype under normal growth conditions, but in the double mutant plants myb64 and myb119 the female gametophytes fail to cellularize, resulting in enlarged coenocytes with supernumerary nuclei
Loss of sensitivity to 6-azauracil
Mice display defects in the formation of otoconia in the inner ear, but do not suffer from deafness or other inner ear defects (PubMed:12651873). They cannot perceive gravity and have problems with spatial orientation and with keeping their equilibrium (PubMed:12651873). They show typical head-tilting behavior and are unable to swim (PubMed:12651873). Mice develop more severe diet-induced metabolic disorders: they respond to high-fat diet with pronounced insulin resistance and hepatic steatosis, accompanied by augmented adipose tissue inflammation (PubMed:24379350)
Induced sensitivity to DNA damage induced by irradiation or treatment with hydroxyurea/ Repair by homologous recombination is dramatically decreased. Instead, large flanking deletions are formed, and repair by the non-conservative single-strand annealing pathway predominates
Increased water deficit tolerance and higher integrated water use efficiency (WUE) by reducing daytime transpiration associated with a higher expression of SDD1 (PubMed:21169508). Increased trichome cell size with normal patterning and branching accompanied with an increase in the nuclear DNA content only in trichomes that have completed branching (PubMed:19717615). No visible phenotype under normal growth conditions, but the double mutant seedlings gtl1-1 and df1-1 exhibit increased root hair length (PubMed:29439132)
Deletion mutant lacks the ac(4)C34 modification and displays a cold-sensitive phenotype
No glycosylation of serine-rich repeat protein Srr-2
Irregular structure and reduced number of cristae in female gametic mitochondria (PubMed:23085019). Completely disrupted male gametophyte functioning (shortened pollen tubes leading to altered style penetration) and impaired female gametes final maturation of the egg and central cells (persistent antipodal cells in embryo sacs, as well as small and short egg cells), not required for double fertilization, but essential for embryogenesis initiation and endosperm development, thus leading to the presence of aborted seeds in siliques (PubMed:23085019)
Decreased actin filament severing frequency. Increased amount of filamentous actin and inhibition of pollen tube growth
Stunted growth and hypersensitivity to high light
Death around 15.5 dpc due to severe neural tube closure defects and herniation of liver and intestine. Palld-deficient mouse embryonic fibroblasts display disorganized actin cytoskeleton, decreased polymerized filament actin, and decreased cell adhesion and compromised cell spreading on various extracellular matrix. Mice embryos lacking Palld exhibit defects in erythropoiesis
No effect on Pi accumulation, due to the redundancy with SPX1. Spx1 and spx2 double mutants have an increased root-to-shoot growth ratio and a reduced rot hair size when grown in Pi-sufficient conditions
Decreases cellular carboxylic ester hydrolase activity (PubMed:9002270). Does not affect penetration of the cuticle of gerbera flowers or tomato fruit (PubMed:9002270)
Embryonic lethal. Embryos exhibit severe defects in head involution and imperfect dorsal closure. During head involution, the head structures fail to internalize resulting in holes in the dorsal anterior region of the cuticle. The disruption in the dorsal surface stretches the ventral surface, causing the cuticle to bow
None seen. An isbB overproducing strain cannot be made in the absence of the sibB gene
Significant reduction in the sneezing response to capsaicin at both low and high doses but does not affect pain-related nose wiping behavior or apnea induced by capsaicin (PubMed:34133943). Abolishes the sneezing response to histamine, seratonin and the neuropeptide Npff (PubMed:34133943). Abolishes sneezing response to mast cell-dependent allergy (PubMed:34133943)
Double mutants lacking both yghB and yqjA show incomplete cell division, temperature sensitivity and altered phospholipid levels. They are also hypersensitive to several compounds known to be exported by other drug efflux proteins, including ethidium bromide, methyl viologen, acriflavine and beta-lactam antibiotics. Expression of either yghB or yqjA can restore the wild-type phenotype, suggesting that these proteins have redundant functions. Both individual null mutant strains grow normally at all temperatures
Poor uptake of Fe(2+)
Defects in primary root elongation and enhanced root hair elongation
Deletion of the gene increases the sensitivity of E.coli to the metal chelator EDTA and sensitivity to cadmium
In response to intraperitoneal injection of muramyl dipeptide (MDP), knockout animals show lower serum IL1B levels than wild type. Mutant macrophages release 30% less IL1B than the wild-type cells
Changes in cell wall monosaccharide composition with a strong reduction of galacturonic acid (GalA), rhamnose and xylose content in the sead coat mucilage composition
Morpholino knockdown of the protein results in an increased number of sodium/potassium-transporting ATPase-expressing cells in larval skin
In the context of cancer, mice display reduced metastase formation, without affecting primary tumor growth
Disruption mutants are unable to use petrobactin for iron delivery and growth
Absence of CD3E leads to the complete absence of mature T-cells. Thymocyte development is arrested at the early double-negative (DN) stage
No visible phenotype under normal growth conditions, but mutant plants exhibit an impaired response to phosphate deficiency during root development
Severe lens and retinal defects leading to lethality
Mutant mice exhibit increased bone density, due to diminished bone resorption, including following parathyroid hormone treatment. This phenotype is due to defective terminal osteoclast differentiation. They also show a delayed wound repair program, characterized by a deficit in macrophage emigration to the wound, a reduced myofibroblast-dependent wound contraction and a diminished neovascularization in the restoration tissue
Lethal. In heterozygous plants, aborted embryos and unfertilized ovules. Defects in female gametophyte development at the one-nucleate stage and white shriveled ovule (PubMed:12805603, PubMed:14976253, PubMed:21123745). Loss of transcription activation of psbD in chloroplasts in response to light (PubMed:12805603, PubMed:14976253)
Mutants lack the archaeosine modification, but do not show any growth defects
No visible phenotype except some decreased root thickening, due the redundancy with other IPTs
Produces fewer spikelets with blight symptoms on susceptible wheat cultivars
Disruption of this gene results in persistence of sialylated glycoforms of lipooligosaccharide but a reduction in sialyl-N-acetyllactosamine-containing glycoforms
Lethality one day after birth (PubMed:26644582). Pups and embryos show eye malformation and heart defects (PubMed:26644582). Mice display cardiomyopathy and cardiac defects including bradycardia (PubMed:26644582). Heart defects are characterized by thinner and enlarged ventricular walls, cardiomyocyte disarray and abnormal nucleus morphology (PubMed:26644582)
Mutants are unable to form pedestals
Requires supplementation with isoleucine and valine for growth (PubMed:23028460). Results in considerably lower kidney tissue burden in murine infection models (PubMed:23028460)
Knockout results in fully penetrant lethality at 9.5 dpc due to severe cardiac edema and growth retardation (PubMed:26755636). Embryos show polydactyly of the feet (PubMed:26755636). Defects in stress-activated protein kinase signaling cascade in response to ribotoxic stress, leading to impaired activation of the JNK and MAP kinase p38 pathways (PubMed:27598200)
No visible phenotype in rich media. Significant accumulation of a 16S rRNA precursor. Increased resistance to aminoglycoside antibiotics kanamycin and paramomycin (PubMed:24489121). Increased lifetime of speF mRNA
Host antibody-secreting cells proliferate in the bone marrow survival niches and sustain long-term antibody titers (PubMed:28031339). In addition, osteogenesis is not inhibited and normal expression of alkaline phosphatase, type I collagen, osteopontin and osteocalcin is observed (PubMed:22792377)
Reduced growth and amino acid levels, but growth inhibition is prevented when mutant plants are grown under non-photorespiratory high CO(2) conditions
Death during embryogenesis; without displaying dorsal-ventral patterning defects. Heterozygous embryos act as a dominant maternal enhancer of dorsalizing mutation cact(E10) and display a partially dorsalized phenotype
Normal blood stage development in the mouse host (PubMed:24893340). In the mosquito, development of oocysts, and sporozoite gliding motility and invasion of salivary glands are normal (PubMed:24893340)
Cells lacking this gene are unable to synthesize lipoglycans (LM-A, LM-B and lipoarabinomannan (LAM))
Morpholino knockdown of the protein results in reduced number of circulating thrombocytes, distinguishable at 3 days post fertilization
Mutants form aberrant non-nitrogen-fixing nodules on peas
Morpholino oligonucleotide-mediated gene knockdown causes multiple developmental defects, including abnormal body axis curvature, shortened and broadened tails, kidney cysts at 72 hours post fertilization and hydrocephalus
Mice lacking Abhd3 are viable, fertile and have normal behavior
Decreased tolerance to dehydration and salt stress (PubMed:24773321). Increase in the number of necrotic leaves and in the intensity of necrosis in response to E.amylovora (PubMed:22316300). Increased susceptibility to P.syringae associated with reduced PR1 induction in double mutants wrky46 wrky70 and wrky46 wrky53, and triple mutant wrky46 wrky70 wrky53. In these mutants, higher induction of PDF1.2 upon jasmonic acid (MeJA) treatment (PubMed:22325892). The triple mutant wrky46 wrky54 wrky70 has defects in brassinosteroid (BR)-regulated growth and is more tolerant to drought stress (PubMed:28576847)
The mature pollen grains are arranged in a tetrad. A layer of material is frequently deposited on the surface of the distal region of the pollen grains
Decreased skin multicilia formation in embryos
Viable. Normal morphology of D-type motor neurons, but 24 hours following injury of D-type motor neurons there is reduced axon regeneration. Double knockout with ddr-1 results in a more enhanced axon regeneration defect of D-type motor neurons as compared to the svh-4 and ddr-1 single mutants
When both copies of this protein (amb0972 and amb1005) are deleted cells have no magnetic response and no magnetosome membranes. Deletion of just amb0972 leads to an intermediate magnetic response and still makes magnetosome membranes (PubMed:20212111). A careful electron cryotomography exam shows that in the double deletion empty vesicles that might be magnetosome precursors are present (PubMed:26884433). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
A double wapA-wapI deletion strain is growth inhibited when cocultured with wild-type cells. When wapI is reintroduced it restores growth in a cognate toxin-dependent fashion (PubMed:23572593). Growth inhibition by wild-type cells is strongest on LB medium and less effective on media that promote biofilm formation (MSgg and 2xSGG) (PubMed:34280190)
Platelets from mutant mice are defective in ADP-mediated platelet aggregation, leading to prolonged bleeding time. Otherwise, mice have no visible phenotype and do not display spontaneous bleeding
Embryonic lethality when homozygous (PubMed:18544632). No spontaneous lesions, but enhanced cell death independent of salicylic acid (SA) biosynthesis or reactive oxygen species (ROS) production during pathogen infection (PubMed:29073135)
Leads to premature death at approximately 6 weeks of age, presumably due to smooth muscle dysfunction. These mice show multiple defects including impaired smooth muscle relaxation, disturbed gastrointestinal motility and enhanced platelet adhesion
Worms have 50-75% embryonic lethality. Those that survive body wall interference have abnormal body morphology and uncoordinated movements, and those that survive pharynx interference have deformed pharynges and gut regions
Defective in mycorrhizal symbiosis
Triple deletion of GIT2, GIT3 and GIT4 impairs the uptake of glycerophosphocholine (GroPCho) and reduces virulence in a mouse model of blood stream infection (PubMed:24114876)
Zinc sensitivity resulting in increased chlorosis and decreased shoot fresh weight and root length. Accumulation of high levels of zinc in shoots
RNAi-mediated knockdown causes early larval arrest and a pale, skinny appearance; paleness due to absence of dark, lipid-laden fat granules from the intestine (PubMed:12530969, PubMed:19936816). Decrease in body size, delayed growth, fewer eggs laid and 5-6 days after being laid, many eggs hatch inside the body (PubMed:19936816). Exposure to oleic or linoleic acid returns body size almost to normal and also increases number of eggs laid (PubMed:19936816). In normoxic conditions, reduces total fat levels, but has no effect in anoxia (PubMed:19187779). Reduces the increase in body width/length ratio caused by anoxia (PubMed:19187779). Alters fatty-acid composition, including of monomethyl branched-chain fatty acids (mmBCFAs) (PubMed:15340492). Exacerbates induction of reactive oxygen species (ROS) production and decrease in locomotion behavior caused by simulated microgravity (PubMed:32448509). Knockdown in the first generation offspring (F1) of adults fed a high-fat diet prevents lipid accumulation (PubMed:35140229). Tissue-specific knockdown in any of several different tissues abolishes elevated levels of H3K4me3 modification (PubMed:35140229)
Mutants show a reduction in the in vivo growth rate, but still persist in mouse lungs, and elicit reduced levels of interferon-gamma production in the lungs. Expression of the genes lat and MT3159 are highly up-regulated
Reduced expression of class-C genes (Ref.6, PubMed:15950602). Several abnormal phenotypes in the vegetative and reproductive phases including accelerated leaves growth, aberrant panicle distichous phyllotaxy organization and disturbed floral organ identity (PubMed:17666027, Ref.5, Ref.6, PubMed:15950602, PubMed:21910771). Aberrant conversion of rachis meristem to a spikelet meristem after producing several primary branch primordia (PubMed:17666027, Ref.5, Ref.6, PubMed:15950602). In flowers, frequent replacement of stamens with lodicules (petals), and indeterminate production of carpels (PubMed:17666027, Ref.6, PubMed:15950602). Precocious formation of spikelet meristems and prolonged formation of lodicules and carpels (PubMed:17666027, Ref.6, PubMed:15950602). Reduced number of primary rachis branches (PRBs) and of the number of grains per panicle, thus leading to reduced grain yield (PubMed:20151298)
Flies exhibit spontaneous ovulation in virgins, female sterility with impaired meiotic progression (eggs are arrested at anaphase of meiosis I, they fail to fully polyadenylate and translate bicoid mRNA and the male pronucleus fails to mature), and compromised postmating responses with lower ovulation level, higher remating rate, and shorter period for restoration of receptivity
Deletion mutant is unable to use D-threonate as a carbon source
Results in abnormal formation of intestinal vacuoles
Mutants are viable but with a shorter lifespan. They also fail to enter dauer stage under starvation conditions and 17 percent of mutants display vulval bursting (PubMed:10209098, PubMed:10377431, PubMed:20207731). Unlike in wild-type animals, germline stem cell proliferation continues following sperm depletion and Z2/Z3 germline precursors continue to proliferate during L1 diapause (PubMed:16631584, PubMed:26552888). The number of unfertilized eggs laid after sperm depletion is also increased (PubMed:26552888). Prevents constitutive dauer entry and pharynx remodeling and restores normal brood size in a daf-2 mutant background (PubMed:10209098, PubMed:10377431). Prevents increase in lifespan in an arr-1 (ok401) mutant background or in mpz-1 RNAi-mediated knockdown animals (PubMed:20207731). Suppresses the increase in ovulation rate and mpk-1 phosphorylation in distal oocytes in a vab-1 (dx31) mutant background. Restores normal axon extension of PLM neurons in a daf-2 (e1370) mutant background (PubMed:23995781). RNAi-mediated knockdown prevents arrest at the dauer larval stage in a daf-2 or age-1 mutant background (PubMed:9885576, PubMed:10077613). In addition, suppresses increased thermotolerance and fat storage and reduces daf-16 nuclear localization in a daf-2 mutant background (PubMed:19249087)
Increased accumulation of copper, cadmium and cobalt ions and enhanced sensitivity to the toxic effects of copper and cadmium. Exhibits no additional sensitivity to manganese. SMF1 fails to enter the vacuole and is stabilized. Reverses the aerobic defects of yeast strains lacking superoxide dismutase (SOD). Concomitant deletion of SMF1 completely abolishes the ability of BSD2 deletion to suppress SOD deficiency and reverses the increased sensitivity to cadmium and copper. However cobalt ion hyperaccumulation is not suppressed
Increased susceptibility to P.syringae infection
No change in spectinomycin or streptomycin resistance
Increase in life span (PubMed:17967446). Longer time span to reach adulthood and reduced brood size resulting in sterility between generations F3 and F4 (PubMed:17967446). Associated embryonic lethality and additional somatic defects at elevated temperatures (PubMed:17967446). Defects in germ cells including defective sperm development and endomitotic oocytes (PubMed:17967446, PubMed:24682813). Significantly reduced H3 'Lys-4' trimethylation in both embryonic and adult germ cells in a sex-independent manner (PubMed:17967446). Increased fog-3 expression at 20 degrees Celsius (PubMed:24682813). At 20 and 25 degrees Celsius, double knockdown mutants with wdr-5.2 have increased fog-3 expression (PubMed:24682813). At 25 degrees Celsius, these mutants have increased wdr-5.2 and fog-1 expression, reduced brood size accompanied by 42% embryonic lethality with 100% of the surviving progeny being sterile (PubMed:24682813). Surviving progeny display enhanced defects in the spermatogenesis to oogenesis transition compared to the single wdr-5.1 knockout with 88% of the gonads only containing sperm (PubMed:24682813). The remaining germ cells in the gonads switch to oogenesis, but the oocytes display either an endoreplication or endomitotic phenotype (PubMed:24682813). Germ cells also have increased expression of the sex determining factor tra-1 in the cytoplasm and as a result there is reduced binding of tra-1 to the fog-3 promoter (PubMed:24682813). RNAi-mediated knockdown leads to an enrichment of mono-unsaturated fatty acids (PubMed:28379943)
RNAi-mediated knockdown causes embryonic lethality (PubMed:16785323). RNAi-mediated knockdown results in increased protein aggregation in the oocytes of sperm-deficient young adult females which is not eliminated by mating (PubMed:29168500). RNAi-mediated knockdown causes hyperfusion of embryonic epidermal cells (PubMed:15866168). RNAi-mediated knockdown results in the accumulation of the aspartic protease hrg-7 in its immature uncleaved form and in the intestine (PubMed:28581477). Causes defects in alae formation in the few surviving larvae and impairs yolk uptake by the oocytes from the pseudoceolomic cavities (PubMed:16785323). Causes an increase in the section of the excretory canal, which often has multiple lumens and abnormal whorls (PubMed:16785323)
No visible phenotype under standard growth phenotype
Males are infertile, due to severe defect of disrupting acrosome formation
Knockout mice exhibit a high rate of neonatal death (PubMed:30665704). Mice that survive show signs of hydrocephalus at postnatal days 14 and 21, along with mucus accumulation in multiple sinuses, and remodeling of the nasal cavity (PubMed:30665704). Conditional knockout in tracheal cells lead to isolated cases of hydrocephalus, as well as chronic rhinosinusitis and accumulation of mucus in the nasal cavity, which is caused by impaired mucociliary clearance (PubMed:30665704)
Disruption mutant shows defects in the production of rhamnolipids, elastase and pyocyanine (PubMed:8144472, PubMed:7604006, PubMed:8522523). It also exhibits reduced LasA protease activity and casein-degrading activity (PubMed:8522523)
No growth phenotype for a double srpI-cyd deletion mutant in the presence or absence of sulfur
In sgr5-2 and sgr5-3, abnormal inflorescence stems gravitropism but normal hypocotyl and root gravitropism. Slow amyloplasts sedimentation associated with lower amyloplast starch levels. Attenuated stem circumnutation movement. No visible phenotype (PubMed:24039602)
Mutant mice appear normal, but have higher incidence of tumors in lung, liver and stomach
Sensitive to radiation, filamentous growth after transient inhibition of DNA synthesis, little effect on conjugal recombination in wild-type strains (PubMed:6374379). Increased sensitivity to mitomycin and UV light (PubMed:2693946, PubMed:2164626, PubMed:9493263, PubMed:10772859, PubMed:18942176). Suppresses lethality in recB-recC and dnaB temperature-sensitive mutants (PubMed:9814711)
Decreased virulence in mice
A double csoS4a-csoS4B disruption does not grow in ambient air, has a wild-type growth rate in 5% CO(2), called a high-CO(2) requiring phenotype, hcr. It does not grow to the same cell density as wild-type. 1/3 fewer carboxysomes are seen per cell, about 13% of which are elongated. The carboxysome shell is more permeable than usual to inorganic carbon. Required for growth in ambient air (PubMed:31406332)
Increased root suberin accumulation characterized by an increased aliphatic monomer content in suberin. Reduced day time transpiration rates and increased water-use efficiency during the vegetative growth period. Decreases in the accumulation of Ca, Mn, and Zn and increases in the accumulation of Na, S, K, As, Se, and Mo in the shoot
Cells show no aggregation after 11.5 hr of starvation under submerged conditions in contrast to the wild-type. Cells developed on agar exhibit 2 hr delay in aggregation and the aggregation streams formed after 9 hr are larger than normal leading to over-sized mounds. No significant difference in the time of conversion of mounds to migrating slugs, but the larger slugs formed by the mutant cells often subdivide before forming normal-sized fruiting bodies with an apparently normal proportion of spores and stalk. Grp94 transcript decreases more slowly following starvation compared to rapid within 30 min decrease of it in wild-type. Significantly reduced and delayed expression of the aggregation stage adenylate cyclase acaA and cyclic AMP receptor carA genes. Both are normally expressed shortly after the initiation of differentiation upon starvation and they are necessary for chemotactic aggregation
Mice die perinatally due to cardiac failure
Homozygous knockout mice display embryonic lethality (PubMed:30923760). Heterozygous knockout mice exhibit shortened left ventricular end-diastolic dimension and shortened left ventricular end-systolic dimension (PubMed:30923760). They also exhibit improved profiles upon pressure overload-induced heart failure (PubMed:30923760)
Animals do not survive for long beyond hatching and frequently die at the L1 larval stage (PubMed:9659934, PubMed:20807527). Upon attempts to feed, food accumulates behind the pharynx and there is blockage of the brush border that surrounds the gut lumen in surviving L1 stage larvae (PubMed:9659934, PubMed:20807527). RNAi-mediated knockdown results in a reduced body size and reduced gene expression from zinc-activated promoters and of genes related to the immune response (PubMed:25552416, PubMed:26016853). This reduction in target gene expression is enhanced when infected with B. pseudomallei (PubMed:23980181). RNAi-mediated knockdown results in increased sensitivity and mortality when exposed to Gram-negative bacteria such as S.enterica, E.coli, P.aeruginosa and B.pseudomallei, Gram-positive bacterium E.faecalis and fungal pathogen C.neoformans (PubMed:16968778, PubMed:17183709, PubMed:21168435, PubMed:23980181, PubMed:30265660). Furthermore, when exposed to E.coli and P.aeruginosa, the intestines distend due to the colonization and proliferation of its bacterial content (PubMed:16968778, PubMed:17183709, PubMed:21168435). RNAi-mediated knockdown at the L4 larval stage, in addition, prevents the recovery of P.aeruginosa infected animals treated with the antibiotic streptomycin (PubMed:30265660). RNAi-mediated knockdown also results in increased sensitivity to heat and to arsenite- and paraquat-induced oxidative stress (PubMed:16968778, PubMed:20498281). RNAi-mediated knockdown results in fewer intestinal lysosomes (PubMed:26828939). RNAi-mediated knockdown during larval development results in smaller animals (PubMed:26016853). RNAi-mediated knockdown specifically during the L4 larval stage inhibits the expression of intestinal genes such as gsto-1, which is normally induced under hypoxic conditions, prevents increased longevity induced by transient hypoxia exposure and prevents mitohormesis when exposed to the mitochondrial reactive oxygen species-generating agent paraquat (PubMed:25284791). In addition, RNAi-mediated knockdown at this stage prevents the expression of genes that are usually up-regulated during recovery in response to tetracycline or kanamycin treatment following an infection and furthermore, prevents the recovery of S. enterica infected animals treated with tetracycline (PubMed:25340560). RNAi-mediated knockdown on an elt-3 knockout background results in increased sensitivity to osmotic stress (PubMed:20126308). Double mutation with elt-7 results in arrest at the L1 stage of larval development, reduced expression of gut-specific genes and a severe disruption to normal gut differentiation with the absence of birefringent and rhabditin granules, which are characteristic of normal gut differentiation, largely at the regions of the cell that interface with the pharyngeal and rectal valves (PubMed:20807527). These mutants also have essentially no gut lumen, with the infrequent occurance of patches of lumen and brush border in few animals, and reduced gut epithelialization as indicated by reduced expression of epithelial markers erm-1b, itx-1 and ajm-1 (PubMed:20807527). RNAi-mediated knockdown specifically during the L4 larval stage reduces the expression of daf-16 isoforms d and f, but has little or effect on isoform a
Developmental defects, elongation defects of all organs, reduced plant height, triple cotyledons phenotype, reduced vascularization and infertility due to failure to produce pollen
Small eyes with deficient lens, abnormal retinal lamination, and thickened retinas
Death around embryonic day 7-8
Mutant cannot release methanethiol upon 5'-methylthioadenosine (MTA) feeding (PubMed:23042035). Deletion mutant accumulates both MTA and 5'-deoxyadenosine extracellularly (PubMed:31950558)
Pale green leaf phenotype and reduction of biomass in mature plants. Increased levels of asparagine, proline and ammonium in response to salt treatment
Under high-light conditions, plants lacking both SWEET11 and SWEET12 are defective in phloem loading and display slower growth, mild chlorosis, and high levels of starch and sugar accumulation in leaves (PubMed:22157085). In plants lacking SWEET11, SWEET12 and SWEET15, severe seed defects, which include retarded embryo development, reduced seed weight, and reduced starch and lipid content, causing a wrinkled seed phenotype. Altered sucrose efflux involved in the transfer of sugars from seed coat to embryos thus leading to starch accumulation in the seed coat but not in the embryo (PubMed:25794936)
Not required for growth on rich medium, nor with cholesterol as a sole energy source. Cannot use beta-sitosterol as a sole carbon and energy source, it can use 1,4-BNC (3-oxo-23,24-bisnorchola-1,4-dien-22-oic acid) an early intermediate of beta-sitosterol degradation
Mice are born at the expected Mendelian rate and display no visible phenotype for at least one year. However, they display vacuolation in the central nervous system and accumulation of disaccharides in brain and epididymis, detectable already at four weeks after birth
Cells from an undomesticated strain (3610) lacking this gene grow predominantly as chains, whereas wild-type cells grow as separate individuals. They do not show a reduction in the rate of swarming motility
RNAi-mediated knockdown in glia results in significantly reduced inhibitory activity of drpr isoform A on glial cell engulfment of axonal debris
Affects mitochondrial activities and leads to an increase in intermediate sterols and a corresponding decrease in zymosterol and ergosterol production
Exhibits growth defect on copper-deficient medium ot in the presence of the copper-specific chelator bathocuproine disulfonic acid (BCS) (PubMed:31932719). Shows a reduction in cell-associated copper, in the enzymatic activity of Cu/Zn superoxide dismutase, in laccase-dependent melanin production and in the accumulation of cellular iron, a well-established copper-dependent process (PubMed:31932719). Does not affect virulence in an A/J mouse pulmonary infection model (PubMed:31932719)
Pleiotropic growth defects, including smaller leaves, dwarfism, and sterility. Hypersensitivity to salt stress and compromised pollen tube growth
Morpholino knockdown of the protein results in developmental delays at 18 hours post fertilization (hpf). At 48-72 hpf, the tail is slightly curved and somite boundaries are also abnormally curved. Swim bladders are incompletely formed. Glycosylation of alpha-dystroglycan (dag1) is severely reduced
Impairs the production of mannosylerythritol lipids (MELs) (PubMed:20564650). Leads to low-temperature sensitivity and affect the cell morphology by impairing formation of filamentous forms (PubMed:20564650)
Males are sterile and display an age-dependent decrease in testes size resulting from a gradual loss in somatic hub cell structure and a decrease in the number of germline stem cells. Hub cells frequently do not localize to the apical tip and are instead present throughout the testes. The number of hub cells is not affected. Reduced DE-cadherin levels in the hub cells. Absence of integrin clustering and decreased focal adhesion kinase (FAK) phosphorylation at the hub/cyst stem cell interface
Deletion mutant does not produce fosfomycin
Mild cardiac phenotype with increased phosphorylation of 'Ser-2' on RNA polymerase II
Mutant is defective in chemotaxis, but does not have an obvious defect in swimming behavior (PubMed:12142407). Mutant shows strongly reduced adherence to a biological surface such as the human epithelial cell line, and a reduction in swimming motility (PubMed:19662168). Also shows a highly attenuated virulence in C.elegans and in a murine lung infection model, and fails to induce strong inflammatory response in the infected mice lungs (PubMed:19662168)
MAF1 deficient mice display a decreased metabolic efficiency. Constitutive high levels of Pol III transcription reprogram central metabolic pathways and waste metabolic energy through a futile RNA cycle (PubMed:30429315, PubMed:25934505). MAF1 down-regulation also alters the expression of genes involved in lipid and sugar metabolism (PubMed:30110641)
Impairs the production of cyclopiazonic acid and of its biosynthetic intermediate beta-cyclopiazonic acid, but accumulates the intermediate cyclo-acetoacetyl-L-tryptophan
Disruption confers resistance to cellular contact-dependent growth inhibition (CDI) CdiA-2 of B.pseudomallei strain 1026b, but not to endogenous CdiA. Unchanged binding to B.pseudomallei strain 1026b inhibitor cells
Viable, but with a reduced fertility and brood size (PubMed:11684669, PubMed:15328017, PubMed:15280233, PubMed:17417969). Low penetrance defects including reduced integrity of the proximal gonad, a low percentage of endomitotic oocytes, distal tip cell migration defects and abnormalities in vulval morphology (PubMed:17417969). Some studies demonstrate aberrant intestinal nuclear divisions, with increased intestinal nuclei in growing larvae (PubMed:17466069). In addition there is increased sensitivity to RNA-induced gene silencing by RNAi (PubMed:16507136, PubMed:17417969). RNAi-mediated knockdown results in increased survival in response to ER stress inducer tunicamycin as compared to wild-type animals (PubMed:24715729). RNAi-mediated knockdown results in larval arrest at 25 degrees Celsius in an xpn-1 mutant background (PubMed:15649460). RNAi-mediated knockdown in a ced-1 mutant background results in reduced somatic cell apoptosis (PubMed:27650246). Double knockout with the synthetic multivulva class B protein lin-15A results in a multiple vulva (Muv) phenotype (PubMed:16624904, PubMed:26100681). Double knockout with either cdk-4 or cyd-1 rescues the cell cycle progression defect in the single cdk-4 and cyd-1 mutants (PubMed:11684669, PubMed:25562820). Double knockout with xnp-1 results in 43% embryonic lethality (PubMed:15328017). Surviving animals develop slowly, are small, sterile and display male and female gonad developmental defects characterized by shorter gonadal arms, fewer germ cells, an everted vulva phenotype, and failed formation of sheath and spermathecal cells (PubMed:15328017). Double knockout with spr-1 or zfp-2 results in defects in growth, vulval morphogenesis, somatic gonad development and fertility (PubMed:17417969, PubMed:17070797). Double knockout with the programmed cell death regulator mcd-1 results in 100% lethality during the L1 stage of larval development (PubMed:17237514). Programmed cell death defect in a ced-3 n2427 mutant background (PubMed:17237514). Knockout with RNAi-mediated knockdown of psa-1, ham-3, swsn-2.2, swsn-3 or swsn-6 (components of the SWI/SNF complex) results in larval arrest during larval development (PubMed:15280233). Knockout with RNAi-mediated knockdown of pha-1 (developmental protein), snfc-5 or swsn-8 (additional SWI/SNF complex components) results in sterility and/or a protruding vulva phenotype (PubMed:15196946, PubMed:15280233). Double knockout with slr-2 results in early larval arrest due to mis-regulation of intestinal specific gene expression, which results in starvation-induced growth arrest (PubMed:18437219, PubMed:22542970)
Mice are devoid of cold-stable microtubules and show no detectable defects in brain anatomy but show synaptic defects, with depleted synaptic vesicle pools and impaired synaptic plasticity, associated with severe behavioral disorders, including a disorganized activity with disruption of normal behavioral sequences and episodes of hyperlocomotion or apparent prostration, anxiety, severe social withdrawal and complete nurturing defects (PubMed:12231625). The behavioral defects are alleviated by long-term treatment with neuroleptics (PubMed:12231625). RNAi-mediated knockdown in brain at the 14.5 dpc stage disrupts proper neuron migration resulting in their accumulation in the ventricular and subventricular zones (PubMed:28521134)
Worms whose mothers are lacking mel-47 exhibit prolonged interphase between the two and four cell stages of development. Mutants arrest as early embryos ranging from 50 to 80 cells with no signs of morphogenesis. Chromatin bridges which connect nuclei remain present after cytokinesis appears complete. RNAi-mediated knockdown results in maternal effect lethal (Mel phenotype) (PubMed:31147388). RNAi-mediated knockdown results in chromosome segregation and cell division defects in early embryos (PubMed:31216475). RNAi-mediated knockdown results in defective activity of the PIWI-interacting RNA (piRNA) silencing pathway (PubMed:31147388). RNAi-mediated knockdown results in the failure of pid-1, pid-3 and erh-2 to localize to perinuclear granules, but instead they accumulate in the nucleus (PubMed:31216475)
Deletion of both inlA and inlB prevents uptake of Listeria by human enterocyte-like cell line Caco-2 (PubMed:1905979). Single inlB deletion no longer invades various cell lines (PubMed:9282740, PubMed:15049825, PubMed:8864117). Decreased synthesis of phosphatidylinositol 3,4,5-trisphosphate (PIP3) in green monkey cells, decreased infection of host cells, decreased association of host PI3-kinase catalytic subunit with tyrosine-phosphorylated proteins (PubMed:8864117). Deletion no longer Tyr-phosphorylates mammalian MET (PubMed:11081636, PubMed:15049825)
Complete embryonic lethality. All die before 3.5 dpc
No visible phenotype; mice develop normally and live to old age. E2f7 and E2f8 double knockout embryos die by 11.5 dpc of massive apoptosis and dilation of blood vessels and show increased expression of E2f1 and Tp53, as well as many stress-related genes
Normal floral volatile benzenoids and phenylpropanoids (FVBP) emission
Jph3 and Jph4 double null mutants exhibit atypical depolarizing responses, irregular cerebellar plasticity due to abolished crosstalk in Purkinje cells. There is hyperphosphorylation of PRKCG and mild impairment of synaptic maturation. Exploratory activity, hippocampal plasticity and memory are impaired and there is abnormal foot-clasping reflex
RNAi-mediated knockdown results in defective clearance of engulfed apoptotic cells (PubMed:21183797). RNAi-mediated knockdown reduces autophagic degradation of membrane pore-forming toxin Cry5B (PubMed:27875098). RNAi-mediated knockdown results in reduced germ stem cell proliferation during larval development (PubMed:28285998). RNAi-mediated knockdown causes abnormalities in constitutive dauer formation in daf-2 e1370 mutant including a lack of autophagosome formation (PubMed:12958363)
Deletion mutant shows decreased swimming motility and increased biofilm formation under rich growth medium conditions
Plants have an embryo development arrested at the two cells stage
Moderately dwarfed plants with small organs due to reduced cell proliferation rate. Enhanced resistance to pathogens
Bip1, bip2 and bip3 triple mutation is pollen lethal (PubMed:24486762). Bip1, bip2 and bip3 triple mutation affects female gametophyte development during the early stages (PubMed:26186593)
60% decrease in mitochondrial NADH dehydrogenase activity
Embryo defective
Mutants have a shortened lifespan and succumb more rapidly than controls to SINV infection (PubMed:26739560). RNAi-mediated knockdown in fat body leads to accelerated aging of the intestine with intestinal stem cell hyperproliferation, epithelial dysplasia and accelerated induction of apoptosis in the aging midgut (PubMed:30036358). RNAi-mediated knockdown in muscle had no impact on systemic intestinal tissue aging (PubMed:30036358)
Morpholino knockdown of the protein results in embryos lacking the body axis and dorsal tissues (PubMed:30467143). Reduced dorsal marker expression but enhanced ventral marker expression (PubMed:30467143)
Abolished completely the production of the naphthoquinones derived pigments and leads to the accumulation of four new compounds which lack the O-methyl group, including 6-O-demethyl-5-deoxyanhydrofusarubin and 6-O-demethyl-5-deoxyfusarubin
Mice have normal food intake, body weight, and fasting glucose and insulin levels (PubMed:24879834). Mice are viable and grow normally to adulthood (PubMed:26445298). Appl1 and Appl2 double knockout mice are viable and grossly normal with regard to reproductive potential and postnatal growth (PubMed:26445298). Reduced survival rate after injection of LPS (PubMed:25328665). Conditional knockout mice Appl2 in pancreatic beta-cells and/or ventromedial hypothalamus (VMH) have no obvious effect on circulating level of insulin, body weight, food intake, respiratory exchange ratio (RER), and locomotor activity, but gradually increased adiposity and diminished energy expenditure. Mice exhibit cold intolerance and impairment of cold-induced thermogenesis, beiging program, and SNS outflow in subcutaneous white adipose tissue (sWAT). Conditionnal knockout mice Appl2 in ventromedial hypothalamus (VMH) have the same phenotype as above (PubMed:29467283)
Null hermaphrodite mutants have masculinized germ lines, producing only sperm. Animals make incomplete male tails, producing shorter stubby tails that lack sensory structures called rays
No visible phenotype. The csi1 csi3 double mutants shows an enhanced cell expansion defect compared to csi1 as well as an additive reduction of cellulase synthase (CESA) complexes (CSCs) velocities
Cells lacking this gene are not capable of growing in standard laboratory rich medium (i.e., Luria broth), and show filamentous shape (PubMed:9555915). FtsZ-ring formation appears to be severely impaired in tusA-deficient cells, resulting in the formation of a non-divided filamentous cell (PubMed:10830496). A tusA deletion mutant lacks the 2-thio modification of mnm5s2U in tRNA and has a severe growth defect (PubMed:16387657). Deletion of tusA has a pleiotropic effect on transcription, including increased expression of molybdenum cofactor biosynthesis genes (moaABCDE operon), but leads to reduced activity of molybdoenzymes, an overall low molybdopterin content and an accumulation of the molybdopterin precursor cyclic pyranopterin monophopshate (cPMP) (PubMed:23281480)
Mutants divide almost normally under standard growth conditions
Plants with double mutations in this protein and in RH10 or AS2 protein have abaxialized filamentous and trumpet-like leaves at high temperatures. In double mutants, shapes of epidermal cells of the filamentous leaves are simple and rectangular, similar to those of a petiole, but different from those of flat leaves of wild-type plants
Cells produce short fruiting bodies with a thick stalk and drastically reduced numbers of spores. Mutant cells grow exponentially at the same rate as wild-type and are 25-fold more resistant to the antitumor agent cisplatin than are wild-type (PubMed:11566853). Mutant cells survive longer in stationary phase than wild-type cells, but are effected at multiple stages of development. Addition of 50 uM extracellular sphingosine-1-phosphate to wild-type cells mimics the developmental effect of the knockout (PubMed:11566853), and leads to increased cisplatin resistance (PubMed:15190000)
Cells lacking this gene are shown to be highly attenuated in a mouse tuberculosis model
The most severe single mam gene deletion. Single gene disruption has no accumulation of magnetite, no intracellular magnetosome vesicles form, wild type levels of MamM, mislocation of MamC in 1-3 foci, MamI mislocalized in 1 to a few patches (PubMed:22007638, PubMed:27286560, PubMed:29243866). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Guca1a and Guca1b double knockout mice show an increase in response to light in dark-adapted cone photoreceptors (PubMed:25673692). Dark-adapted cone photoreceptors show a delayed response time and a delayed recovery time in response to light (PubMed:25673692). Guca1a, Guca1b and Rcvrn triple knockout mice show rod photoreceptors have a reduced current decay during light response (PubMed:29435986)
Increased lifespan and stress resistance
Defects in ccdc103 are the cause of the schmalhans phenotype and show a curved body axis, randomized left-right asymmetry and pronephric kidney cysts, which are characteristic features of ciliopathies. Cilia completely lack both inner dynein arms (IDAs) and outer dynein arms (ODAs) while cilia length in these mutants is not altered
The tm576 deletion mutant is lethal (PubMed:27645998). The ok625 deletion mutant has reduced levels of 4-O-sulfated disaccharides, but increased levels of 6-O-sulfated disaccharides (PubMed:27645998, PubMed:27703236). Increased mortality in response to oxidative stress (PubMed:27645998)
RNAi-mediated knockdown results in loss of auditory sensitivity (PubMed:28067622). In the whole body or specifically in muscle cells or fat body, results in locomotor impairment, uncontrolled and uncoordinated wing movements leading to flightless phenotype (PubMed:28067622). In nociceptive dorsal class IV dendritic arborization C (ddaC) neurons results in altered branching and dendritic field coverage in third instar larvae (PubMed:28067622). In fat body reduces lipid droplet size with aging (PubMed:28067622). In all neurons does not show any of the phenotypes above (PubMed:28067622)
A hfq deletion mutant cannot colonize the murine small intestine despite retaining the ability to produce the colonization factor TCP. Deletion of hfq does not impair production of the sigma factor RpoS. Expression and activity of the sigma factor sigma-E are dramatically increased in the hfq mutant
Males and hermaphrodites are viable and there is no change in brood size (PubMed:9217163, PubMed:17720939, PubMed:33372658). In a sex-1(y263) mutant background or a sex-1 RNAi mutant background, males are viable, but hermaphrodites have highly reduced viability due to failure of the dosage compensation complex to assemble on X chromosomes, and the surviving animals show a reduction in brood size (PubMed:17720939, PubMed:16139225, PubMed:33372658). RNAi-mediated knockdown results in a 63% reduction in the number of eggs produced (PubMed:11303786). RNAi-mediated knockdown together with sex-1 results in hermaphrodite embryonic lethality (PubMed:21471153). This hermaphrodite-specific lethality is suppressed in a sea-2 bp283 mutant or sea-1 gk799 mutant background (PubMed:21471153)
Weak late-flowering phenotype
Slightly increased growth and fresh weight
A double tre1-tri1 deletion is outcompeted by wild-type cells, but not by wild-type cells missing a type 6 secretion system (T6SS)
Mice develop tumors. In a C57BL/6 genetic background, mice exhibit a shorter lifespan than wild-type, but exhibit low incidences of observable tumor formation. In the FVB/N background, which is more tumor-prone, mice show a significant increas in the spontaneous development of a broad range of tumor types
Sesn2 knockout mice are fully viable and do not display any overt developmental abnormalities. When kept on high fat diet, they display higher insulin resistance and glucose intolerance (PubMed:22958918). The oxidative stress induced by acute lipogenesis upon refeeding results in increased liver damages in the Sesn2 knockout mice. Any condition, like obesity, that triggers chronic or acute endoplasmic reticulum stresses have the same consequences in these mice and can lead to liver fibrosis (PubMed:23274085, PubMed:24947615). Sesn2 and Sesn3 double knockout mice display insulin resistance and glucose intolerance (PubMed:22958918). Triple knockout mice lacking Sesn1, Sesn2 and Sesn3 do not display an embryonic lethal phenotype since they are born at an expected Mendelian ratio. Moreover, they are not distinguishable from their wild-type littermates. However, their survival at 10 days is dramatically affected. This is associated with a constitutive activation of TORC1 signaling in the liver, heart and skeletal muscle during postnatal fasting, that occurs between birth and suckling (PubMed:25259925)
RNAi-mediated knockdown causes a reduction in progeny viability. ify-1 and cyb-1 accumulate in the cytoplasm during meiosis II. Also extents the length of meiosis II and causes retention of rec-8, a component of the cohesin complex, at sister chromatid cohesion. Causes a delay in oocyte budding
Abolishes the production of aculenes A and C, and accumulates aculenes B and D, as well as a minor component, asperaculane B
No visible phenotype, however mice display increased susceptibility to heart failure under conditions of hemodynamic stress
Homozygous knockout mice are viable and fertile (PubMed:12095919). However, they grow poorly and display lean phenotype, muscle weakness, osteopenia due to impairment of osteoblast maturation to osteocyte and male-specific sudden cardiac death associated with bradyarrhythmia (PubMed:12095919)
Embryonic lethality, due to severe mitochondrial dysfunction. Embryos are much smaller than normal and none survive past 10.5 dpc
Mutation of the gene causes a reduction in growth on D-galacturonate and maceration of potato tuber tissue
Male mutant mice are infertile. Mutant spermatozoa exhibit shorter tails, misshapen heads and immotility. Manchette removal is impaired
Loss of DNA conjugation when disrupted in recipient strain, strain does not secrete EsxB (PubMed:18554329). Increases efficiency of DNA conjugation when disrupted in donor strain (PubMed:18554329)
Mice survive to adulthood and do not display detectable physical abnormality (PubMed:20733033). However, mice were born at a rate lower than predicted by the Mendelian ratio and display defects in innate immune response (PubMed:20733033). Impaired formation of neutrophil extracellular traps (NETs) (PubMed:20733033, PubMed:32528174). Mice are more susceptible to bacterial infection: neutrophils cannot form NETs after stimulation with chemokines or incubation with bacteria, and are deficient in bacterial killing by NETs (PubMed:20733033). Less than 10% of deficient mice produce a thrombus 48 hours after inferior vena cava stenosis whereas 90% of wild-type mice do (PubMed:23650392)
Late-flowering phenotype caused by ectopic expression of FWA gene. Asymmetric zygote division and abnormal embryos. Displays genome hypomethylation, strong reduction of CpG methylation in centromeric repeats, reduction of heterochromatin and chromocenter size and gametes with fully demethylated and hemidemethylated DNA
Smaller seeds and embryos associated with smaller contracted endothelial cells and reduced cell number in the outer integument layer of the seed coat during the seed development (PubMed:23911125). Increased quiescent center (QC) cell divisions (PubMed:24981610). Early flowering under long-day (LD) associated with FT accumulation (PubMed:25343985)
Mice are neonatal lethal and show vascular defects in both the embryo and the placenta
Sensitive to freezing
No visible phenotype under normal growth conditions, but mutant seedlings exhibit reduced accumulation of intracellular calcium in response to extracellular hydrogen peroxide
Mice are viable, normal in size and without gross physiological or behavioral abnormalities (PubMed:27992402). Mice are however more susceptible to infection with RNA virus due to impaired cellular antiviral response (PubMed:27992402). Mice also show increased inflammatory response, characterized by enhanced NLRP3 inflammasome activation (PubMed:27929086). Increased NLRP3 inflammasome activation leads to an aggravation of alum-induced peritonitis (PubMed:27929086). In contrast, it attenuates the severity of dextran sodium sulfate-induced colitis, an inflammatory bowel diseases model in which NLRP3 possesses protective roles (PubMed:27929086)
Knock-down promotes neurite outgrowth in a RAB11A-dependent manner
R2 and R5 fail to be correctly determined and appear to be transformed into cells of the R3/4/1/6 subtype
NLRP12-deficient mice exhibit attenuated inflammatory responses due to significantly reduced capacity of dendritic cells to migrate to draining lymph nodes (PubMed:20861349). They also gained significantly more weight and a greater percentage of body fat than wild-type mice (PubMed:30212649). NLRP12-deficient mice also exhibit enhanced disease in a mouse model of multiple sclerosis (PubMed:26521018). During viral infection, augments host response with greater type I interferon production and RIGI protein (PubMed:30902577)
Paws are frequently denuded and epidermis loses contact with the dermis following the mechanical stress of birth, mice die within 1 hour of birth (PubMed:11408584). Tongue cytolysis is evident following birth even before the first milk uptake (PubMed:11408584). Complete loss of keratin filaments in the basal layer, leading to cleavage of the epidermis in the subnuclear cytoplasm just superficial to the hemidesmosomes (PubMed:11408584). Increase in Krt6 expression in the spinous and lower granular layers as well as weakly in basal layer of the blistering roof of cytolyzing cells at birth (PubMed:11408584). Decrease in Krt14 expression in the skin following birth (PubMed:11408584). Increase in Langerhans cells in the epidermis (PubMed:19267394). Decrease in Ctnnd1/p120 localization to the plasma membrane and adherens junctions of basal keratinocytes (PubMed:19267394). Increase in the cytokines Cxcl16, Ccl2, Ccl19 and Ccl20 in the epidermis at birth (PubMed:19267394)
No change in ability to grow on an exogenous siderophore (mycobactin), suggesting it does not have an iron-chelating function (PubMed:24855650). A double dyp-enc deletion mutant cannot produce encapsulin nanocompartments, cells are highly sensitive to H2O2 at pH 4.5 (mimics growth in the phagolysosome), mutants exhibit significant dysregulation of redox homeostasis, survive less well in C57BL/6 mouse-derived bone marrow cells and are more sensitive to pyrazinamide treatment in infected BALB/C mice (PubMed:34751132)
Distorted trichomes
Destabilization of ComGA (PubMed:17630974)
Mutants show significant reduction in adherence to several cultured epithelial cells (HEp-2, HT-29 and MDBK)
Larval lethality. Embryos lacking maternal and zygotic wol activity show segmentation, dorso-ventral patterning and gastrulation defects. As a result, germband elongation does not proceed normally and mesoderm invagination is disturbed. In these embryos, protein glycosylation is reduced by 25 percent, the ER tubules are smooth and the unfolded protein response (UPR), a transcriptional response which up-regulates genes that enable cells to cope with misfolded, endoplasmic reticulum-retained proteins, is activated. Larvae lacking maternal wol present patterning and morphological defects, including the failure to form a normal head skeleton, a discontinuous cuticle and irregular body contours. Larvae lacking both maternal and zygotic wol show severe reduction in cuticle deposition, a complete failure of denticle formation and melanization, loss of chitin orientation in the procuticle and dislocation of proteins of the lower electron-dense portion of the epicuticle into the upper electron-lucid sublayer. In addition, the midgut microvilli are separated from each other by large gaps and the apical plasma membrane of the hindgut is highly irregular
Abolishes the production of aculenes A and B and accumulates aculenes C and D
Null cells are lethal due to a growth defect involving TOR protein complex 1, TORC1
Double conditional knockouts that have deleted both TUT4 and TUT7 at the secondary oocyte stage are infertile. Females ovulate normal numbers of oocytes with normal morphology of antral follicles but with a slight decrease in the frequency of surrounded nucleolus state oocytes. Mutant oocytes are unable to support early embryonic development, they fail to complete meiosis I properly
Disruption suppresses an rpoE disruption; in a wild-type background disruption down-regulates extracytoplasmic stress responses and outer membrane vesicle production
Abnormal localization of synaptic vesicle components and active zone proteins in the cell body and in the dentrite of DA9 motor neuron (PubMed:20510931). In L4 mutants, incomplete elimination of ventral rab-3-positive synaptic vesicles and small reduction in the formation of dorsal rab-3-positive synaptic vesicles in DD motor neurons, although formation of ventral synapses at the L1 stage is normal (PubMed:21609829). No other phenotype except a slightly smaller progeny size (PubMed:20510931)
Disruption causes delayed mortality in mice. Mutant accumulates glutamate and glutamine
Plants are extremely dwarf and show severe abnormal morphology with incomplete cell walls, aberrant cell plates and multinucleated cells
Decreases the production of aspercryptin by more than 80% but increases the titer of aspercryptin with Ile replaced by Val more than six-fold (PubMed:26563584)
Embryo lethal when homozygous
Mice are viable and fertile (PubMed:22461490). The number of CD4(+) and CD8(+) T-cells are reduced by 50 percent in the spleen and peripheral lymph nodes (PubMed:22461490). The number of marginal zone B cells in the spleen are also reduced (PubMed:22461490). In response to an immune challenge, impaired migration of epidermal dendritic cells to the draining lymph nodes resulting in a failure to prime CD4(+) T-cells characterized by a lack of CD4(+) T-cell proliferation in lymph nodes and a lack of antigen-specific IgG antibody production (PubMed:25713392, PubMed:22461490)
Mutant is impaired in osmo-independent choline uptake activity. The betT1/betT2 double mutant is completely impaired in choline transport
Segment polarity phenotype (cuticles are smaller and lack the alternate naked regions) and wing margin defects (a reduced number of posterior wing-margin bristles and the even bristles distribution is interrupted). Heterozygotes die as pharate adults with appendage malformations, such as lack of arista and antennal segments, rudimentary legs and wing-to-notum transformations
Not essential (on rich medium), greatly increased levels of cAMP. Eliminates the NaCl sensitivity of an rnlA deletion mutant
Constitutively higher stomatal conductance with over-accumulation of the osmoregulatory anions in guard cell. Impaired slow (S-type) anion channel currents that are activated by cytosolic calcium ions and abscisic acid (ABA) (normally leading to a decrease in stomatal conductance). Higher sensitivity to ozone. Increased water loss associated with a constitutive stomatal opening phenotype. Reduced circadian leaf turgor changes
Plants have pleiotropic effects on plant growth and development, including dwarf size, aberrant root development, and short petals and stamens in flowers. ADA2a cannot rescue any of the mutant phenotypes
Delayed development and flowering
Impairs the production of fusamarins
Knockout males show impaired fertility (PubMed:9192653). Sperm from mutants exhibit accelerated capacitation, precocious acrosome reaction, reduced binding to egg zona pellucida, and impaired fertilizing ability (PubMed:16371590). They have abnormal acrosome formation during spermatogenesis (PubMed:22357636). Sperm proteins are hyper-tyrosine phosphorylated during capacitation (PubMed:19342015). In females, the percent of successful mating is comparable to that of their PCSK4 +/- female littermates, however the average litter size of the former is half that of the latter. Knockout ovaries treated with gonatropin are generally smaller, less hyperemic and with fewer corpora lutea than wild type. This difference is associated with a 20-fold lower level of circulating progesterone (PubMed:9192653)
Mutants are highly susceptible to Salmonella and Listeria infection and are impaired in their ability to control replication of either pathogen (PubMed:28351984). Mutant neutrophiles have a highly impaired superoxide burst (PubMed:28351984). Mice are very susceptible to Listeria monocytogenes and die within 5 days of infection, fail to form neutrophil extracellular traps but are resistant to melanoma metastasis (PubMed:28351984)
Cells lacking both trm4a and trm4b show a mild resistance to calcium chloride
No visible phenotype. Flies are viable
Abnormal morphology of the terminal fruiting body; the sorus, or large spore mass atop an elongated stalk of vacuolated cells, does not form and the stalk structure is expanded
Lethal albino phenotype when homozygous
Altered root development due to defect in primary root elongation and root epidermal cell development
Mutants are viable and fertile but display NMJ overgrowth with excess satellite boutons, fewer and larger synaptic vesicles, defective synaptic endocytosis and increased levels of tkv
Mutation leads to accumulation of phospholipid in the outer leaflet of the outer membrane and increased outer membrane permeability. It confers sensitivity to SDS-EDTA
Flies lacking tty are viable and fertile. Was named 'tweety' after the cartoon character that cannot fly. Indeed, a mutant involving a genomic region that contain tty leads to flies that cannot fly
Impaired mitochondrial transmembrane tail-anchored protein localization, characterized by mitochondrial transmembrane tail-anchored protein accumulation at the endoplasmic reticulum (PubMed:22918956). In addition, a wide spectrum of phenotypes is observed, including induction of the endoplasmic reticulum unfolded protein response, defects in lipid and sterol homeostasis, and dysregulated protein N-glycosylation, topogenesis and turnover (PubMed:12058017, PubMed:22918956, PubMed:24392018)
Leads to significant down-regulation of the yanuthone D gene clister and losses the ability to produce yanuthones D and E (PubMed:24684908)
No change in arginine-dependent acid resistance
Cells lacking this gene are unable to degrade the side chain of C-24 branched sterols such as beta-sitosterol and campesterol
Embryos have bent ceratohyal cartilage
An insertion mutation defective in lpxH is not viable and accumulates UDP-2,3-diacylglucosamine
Abnormal organ morphology and stem glossiness
No growth phenotype in liquid culture, slightly better growth on plates, strain loses slight sensitivity to white light. In planta is more virulent, with increased growth in host (A.thaliana) leaves, mutant opens leaf stomata better than wild-type, has decreased leaf callose deposits, produces more xanthan than wild-type and is insensitive to white light, has considerably increased sliding and slightly increased swimming mobility, generates mature biofilm in the light and dark
Knockout mice exhibit a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina compared with wild-type animals (PubMed:33077892). Knockout male mice are fertile (PubMed:33077892)
Deletion of the gene results in an ablated membrane potential, indicative of a non-functional electron transport chain (ETC) and an inability to aerobically respire (PubMed:33619030). Mutants fail to replicate in minimal defined medium and are killed in the cytosol approximately 4- to 6-fold more frequently than the wild-type strain (PubMed:33619030)
Deficiency results in 80% reduction of the litter size due to embryonic lethality (PubMed:21072209, PubMed:23825659). Surviving pups exhibit a gender bias in favor of males (70% males and 30% females) (PubMed:21072209, PubMed:23825659). Intrauterine growth retardation and placental defects. Altered expression of trophoblast lineage-specific genes (PubMed:18163532). Increased N(6)-methyladenosine (m6A) DNA (PubMed:27027282). No effect on H2AK118 or H2AK119 methylation, suggesting that Alkbh1 does not act as a histone demethylase in vivo (PubMed:27027282). Cells show an strong increase of N(1)-methyladenine-containing tRNAs (PubMed:27745969)
Knockout animals born in Mendelian ratios, but show increased neonatal mortality such that around 40% survive to weaning. Mutants show a reduction in striatal volume and changes in medium spiny neuron morphology. They have alterations in motor control, including hyperactivity, impaired rotarod performance, repetitive movements, and behavioral hyperresponsiveness to amphetamine
Strongly represses cell swarming but no effect on cell swimming (PubMed:17122336). Increased metabolic activity in the presence of TMP, an inhibitor of dihydrofolate reductase (folA) and sulfamethoxazole, an inhibitor of dihydropteroate synthetase (folC). Cells grow faster than wild-type in the presence of TMP
Albino seedlings leading to lethality
Cells display severe cytokinesis defects. They are able to form, but not maintain the integrity of the actomyosin ring and are unable to successfully complete division septum formation upon treatment with low doses (0.3 uM) of actin depolymerizing drug, latrunculin A (LatA). However, deletion mutants are competent to delay nuclear cycle progression after cytokinetic failure upon treatment with LatA. In addition, deletion mutants suppress the lethal, multiseptate phenotype conferred by hyperactivation of the SIN
The left and right AIM neurons and the left and right RIF neurons are connected by abnormal neurites in 40% and 80% of adults respectively (PubMed:16139210, PubMed:19561603). Fails to reduce chemotaxis to benzaldehyde after pre-exposure to benzaldehyde (PubMed:19561603). In mbr-1 and cam-1 double mutants, normal neurite pruning between left and right AIM neurons is restored (PubMed:19561603)
Leads to reduced steady-state levels and activities of the mitochondrial ATP/ADP carrier protein AAC2
Cells lacking this gene exhibit no detectable phenotype on glucose as the sole carbon source, and they grow normally on gluconate
Deletion of the gene results in reduced growth in acidic medium under low oxygen conditions. The mutant shows better intracellular growth and survival inside THP-1 cells compared to wild-type and complemented strains. The colony morphology and antibiotic sensitivity of mutant and wild-type strains are similar (PubMed:22138550). The double knockout mutant pknI/dacB2 shows smoother colony morphology on solid agar and exhibits defective biofilm and cord formation. Double mutant is hypersensitive to cell wall damaging agents such as lysozyme, malachite green, ethidium bromide and to isoniazid, a first line anti-TB drug (PubMed:25467937)
No visible phenotype under normal growth conditions, but stem wax of mutant plants are devoid of secondary alcohols and ketones and have increased alkane amounts
Cells lacking this gene exhibit no detectable phenotype when grown on galactose as sole carbon source
Dramatic reduction in craniofacial cartilage formation
Mice show a higher level of histone H3 with acetylated 'Lys-9' (H3K9ac) and/or methylated 'Lys-4' (H3K4me), display severe developmental defects and die within E9.5-E12.5 stages
Abolishes the biosynthesis of communesins A and B and leads to the accumulation of aurantioclavine
Severe stunting in cv. Columbia
Flies contain undetectable phosphatidylinositol 3,5-bisphosphate levels, show profound increases in cell and organ size, and die at the pupal stage. Mutant larvae contain highly enlarged multivesicular bodies and late endosomes that are inefficiently acidified. Even though endocytic receptor trafficking is impaired in fab1 mutants, Notch, Wingless, and Dpp signaling is unaffected
Plants lacking both HP30-1 and HP30-2 are yellow to pale-green and impaired import of CEQORH in chloroplast inner membranes
Cells lacking this gene are only slightly more susceptible to nalidixic acid, but are more sensitive to UV irradiation than the wild-type (PubMed:20128927). No visible phenotype when grown on glucose (PubMed:29684280)
Cells lacking this gene do not show lipase activity
Loss of biofilm formation (PubMed:20713508, PubMed:25308276). Loss of a dark-orange pigment from cells, alteration of cellular lipid profile. Significant reduction of proteins found in detergent-resistant membrane (DRM) fractions (PubMed:20713508). Decrease in membrane fluidity, about 30% decrease in protein secretion (PubMed:23651456)
Mice produce offspring at expected Mendelian ratios. Slow-twitch skeletal muscle fibers display delayed Ca(2+) clearance and relaxation and reduced SERCA activity. No significant differences are observed in peak muscle force and no differences are observed in relaxation rates at low, non-tetanic stimulation frequencies. However at tetanus-inducing frequencies, relaxation rates are significantly slowed after tetanus
Missing formation of the large vacuole required early in development of male and female gametophytes thus leading to development arrest in embryo sacs and pollen grains at the first mitotic division
No visible phenotype when deleted singly or as the parDE1 operon
Cranial vascular hemorrhages and pericardial edema, leading to complete cardiac and vascular organ failure by 72 hpf. Defects are due to increased oxidative stress
Increased sensitivity to abscisic acid
Results in cytosolic calcium elevation and increased nuclear content of calcineurin-dependent transcription factor crz1 (PubMed:36169198). Affects cell wall integrity and leads to abnormal distribution of chitin (PubMed:36169198). Sensitizes the cells to the combination of osmotic and temperature shock, affects vacuolar fusion, and interruption of autophagy (PubMed:36169198). Finally, results also in a significant loss of virulence in both the invertebrate and mammalian infection models (PubMed:36169198)
Increased number of smaller cells and loss of giant cells in sepals due to both a decrease in endoreduplication and an average decrease in the duration of the cell cycle
RNAi-mediated knockdown results in lethality before the pupal stage (PubMed:24275942). RNAi-mediated knockdown in the wing imaginal disks results in reduction of wing size associated with loss of patterning elements such as veins; this phenotype is reversed by Myc overexpression (PubMed:24275942)
Lack of Dod-P-GalA in total lipid extracts. The membranes of the rgtE mutant are unable to provide the substrate for heterologously expressed RgtA activity. Cells lacking this gene produce an LPS that is devoid of GalA. They are also more susceptible to deoxycholic acid and to the polycationic antimicrobial peptide PmxB when compared with the parent strain. Pea plants inoculated with rgtE-deficient mutant show discoloration and wilting of the early leaves
Null mutants are more sensitive to canavanine
Mice display altered responses to mechanical and acid stimuli. They do not develop chronic hyperalgesia induced by repeated acid injection
Decreases the ability to penetrate the host cuticle and impairs the repression of host immunity genes
Impaired intracellular resting calcium levels and impaired endocytosis in presynaptic terminals, exocytosis is normal. Mutant boutons at the neuromuscular junctions exhibit a significant depletion in the number of synaptic vesicles. There are numerous extra boutons which are often small, clustered, and flowery in nature. Mutant nerve terminals display omega structures and collared pits
Does not affect the expression of expression of DMATS1, FFUJ_09176,and FFUJ_09178; nor the metabolite production
No visible phenotype but shows enhanced susceptibility to a bacterial pathogen and deficiency in establishing systemic acquired resistance (SAR). Ire1a and ire1b double mutant is more sensitive to the ER stress inducer tunicamycin than the wild-type and is enable to give rise to the spliced bZIP60 mRNA form (PubMed:22355548). Ire1a and ire1b double mutant displays short roots and a ER stress-sensitive phenotype (PubMed:21914012)
Shorter clock period but no effect on clock phase
Plants grow slightly slower and are slightly smaller than wild-type. Somewhat photoinhibited, in strong light the amount of D1 (psbA) protein decreased faster than wild-type and thus levels of PSII are decreased
Deletion of the gene causes serious deficiencies in nodule development, nodulation competitiveness and nitrogen fixation on Phaseolus vulgaris plants (PubMed:16353552). Deletion mutant is unable to form stable symbiosomes (PubMed:16353552)
No visible phenotype in normal conditions. Absence of pseudo-allergic reactions in response to small-molecule therapeutic drugs: secretagogue-induced histamine release, inflammation and airway contraction are abolished
Mutants exhibit a disappearance of supernumerary centrosomes and multinuclear cells, and increased sensitivity to the microtubule depolymerizing drug nocodazole. Mutants overexpressing mtaA exhibit supernumerary centrosomes and a cytokinesis defect. Mutants underexpressing mtaA display inhibited growth and a reduction in the number and length of astral microtubes
Decreased level of free serine, glycine, taurine, GABA, glutamine, and threonine in spinal cord and head. Impaired central nervous system (CNS) with shorter neural tube length and overall growth retardation. Severe atrophy at the thoracic level, particularly in the dorsal spinal cord. Poorly developed dorsal horn and adjacent mantle zone. Neurons fail to develop neurites, particularly commissural axonal fibers
Leads to derepression of several genes involved in xylose catabolism including PDC1, DAS1 and AOX1, and subsequent increased ethanol production from xylose (PubMed:29438555)
Cells lacking this gene are not able to produce aerobactin and accumulate N-acetyl-N-hydroxylysine
No change in sporulation efficiency
Mice are born at less than half of the expected frequency. Neonates are slightly smaller than normal and do not grow normally. After 5 weeks mice weigh only 50 to 60% as much as their littermates. Mice develop non-insulin-dependent diabetes mellitus (NIDDM) 2 weeks after birth. Mice exhibit elevated levels of blood glucose, combined with reduced blood levels of insulin and insulin-like growth factor I (IGFI). Males and females are sterile
Mice display reduced rates of protein synthesis and intracellular transport of secretory proteins. According to PubMed:15040787 mice lacking Sycn display atrophy of the pancreas associated with an elevated amylase content
Fertility defects (PubMed:31003867, PubMed:31000436). Although female mice are fertile, they display fertility defects faster than wild type in advanced age (PubMed:31000436). Male mice are infertile (PubMed:31003867, PubMed:31000436). Defects are caused by delayed recombination initiation (PubMed:31000436). DNA double-strand breaks (DSBs) distribution during meiosis is altered because of reduced selectivity for sites that normally attract DSBs (PubMed:31000436). Spermatocytes have altered DSB locations and fail to target DSBs to the pseudoautosomal regions of sex chromosomes (PubMed:31003867, PubMed:31000436)
A double cshB-cspB disruption mutant cannot be made
During aerobic growth, mutant is impaired for ubiquinone biosynthesis and for growth in rich medium, but it does not present any defect under anaerobic conditions. Mutant is also impaired for Salmonella intracellular proliferation in macrophages
Mice are born at the expected Mendelian rate, but female mice are dwarfs and most of them are unable to bear offspring, due to defects in blastocyte implantation in the uterus. About one fifth can bear offspring, but for these the mammary gland fails to undergo proper differentiation during pregnancy, with hyperproliferation and abnormal branching of the mammary ducts, leading to a lactation defect. In addition, mice exhibit hearing loss, due to alterations of the inner ear. Mice display poor calcification of the fibula. They also exhibit defects in the structure of the slit diaphragm in kidney glomeruli, leading to proteinuria, but do not show overt signs of kidney dysfunction
Sensitive to nutrient stress. Larvae display no obvious phenotype under normal feeding conditions; larval growth and development is normal, and there is no effect on triglyceride and glycogen levels. However when mutants pupate and become adults they display reduced triglyceride and glycogen stores leading to adults dying within 18 hours of starvation whereas controls survive 2.5 days without food. Larvae are also sensitive to nutrient stress displaying 50% lethality when fed a low nutrient diet. Double knockouts of REPTOR with a hypomorphic Tor, rescue the Tor-mediated increase in triglyceride levels and partially rescue the larval growth defect
Cells lacking this gene are unable to grow on minimal medium with nitrate as nitrogen source. Growth is restored only after addition of both cysteine and ammonia to the medium
Increased accumulation of methylthiopropyl glucosinolates in leaves and seeds
Abolishes the production of cercosporin (PubMed:12937958, PubMed:15915645, PubMed:26938470). Does not display any pigmentation (PubMed:26938470). Leads to fewer necrotic lesions on inoculated tobacco leaves compared with the wild type (PubMed:15915645)
Late flowering and defective in UV-C light acceleration of flowering. Strong reduction of FLOWERING LOCUS T (FT) expression. Hypersensitivity to abscisic acid (ABA) and alterations in polar lipid contents and their corresponding fatty acids; reduced levels of phosphatidylinositol (PI) and of 18:0, but increased levels of 18:2 and 18:3 polar lipids. Increased susceptibility to the hemi-biotrophic oomycete pathogen Phytophthora brassicae but enhanced resistance to the necrotrophic fungal pathogen Botrytis cinerea
Cells are unable to grow on solid media with oleate as a carbon source
No visible phenotype under normal growth conditions, but deficient in the phytoalexin camalexin accumulation upon bacterial infection and markedly increased susceptibility to infection by the necrotrophic fungus Alternaria brassicicola
Disruption of the gene abolishes shikimate uptake
Embryonic lethality; embryos fail to develop after 8.5 dpc (PubMed:33899734). Conditional deletion in the in the developing cerebellum and midbrain leads to severe development defects in the cerebellum characterized by the absence of multiple cell types (PubMed:33899734). In contrast, conditional deletion in the adult cerebellum and midbrain does not cause defects in neuron survival (PubMed:33899734). Defects are probably caused by ribosome pausing, due to inability to rescue stalled ribosomes (PubMed:33899734)
Mutant accumulates coproporphyrin III
Mice fail to show a pupillar reflex, photoentrainment of the circadian clock and other non-image forming responses to light (PubMed:12808468). Newborn mice show normal hyaloid vessel numbers and normal vessel cellularity, however vessel numbers are increased by P8 (PubMed:30936473). In Opn4 and Pde6b double knockout mice optokinetic visual tracking response is abolished (PubMed:26392540)
Cells lacking this gene show an increased sensitivity to chromate
Reduced growth under photoautotrophic conditions and increased photosensitivity; approximately normal amounts of PSII accumulate but electron flow from QA to QB is impaired (Ref.6). Increased photodamage to D1 but it is degraded slower (PubMed:7626631)
Shows increased sensitivity to deoxycholate, ethidium bromide and crystal violet
No functional NADH-quinone oxidoreductase complex. Cells lacking this gene have a nearly normal respiratory growth phenotype on lactate, however they are unable to perform anaerobic photosynthesis. It is suggested that in R.capsulatus this complex may function in reverse flow under physiological conditions
Cells have no magnetic response but still make empty magnetosome membranes; magnetosome proteins MamA and MamE localize normally (PubMed:20212111). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
No visible phenotype under normal growth conditions, but mutant plants have enlarged stomatal aperture and increased sensitivity to drought stress
Deletion of the gene abolishes induction of the melREDCA operon the presence of melibiose and raffinose (PubMed:31138628). It does not affect growth in the presence of glucose and arabinose, but it has a negative effect on the ability of the mutant to grow on the alpha-1,5-arabinose oligomers alpha-1,5-arabinobiose, alpha-1,5-arabinotriose and alpha-1,5-arabinotetraose (PubMed:20693325). Deletion mutant cannot utilize pectin and galactan, and shows a slower but steady growth rate in the presence of type I rhamnogalacturonan or polygalacturonan (PubMed:29240795)
Mutant is more sensitive to damage induced by a sudden exposure to nitric oxide and is more sensitive to hydrogen peroxide
Sensitises cells to wtf4-encoded poison
Impairs the production of aspergillicins A and F but accumulates aspergillicins C and G
No visible phenotype under normal growth conditions, but leaf chloroplasts exhibit reduced number of starch granules
No visible phenotype; due to the redundancy with SBH2. Sbh1 and sbh2 double mutants are severely dwarfed, do not progress from vegetative to reproductive growth and have enhanced expression of programmed cell death associated-genes
Only one or two large plastids (all type of plastid) in each plastid containing cells (PubMed:23936263). Impaired gravitropism of inflorescence stems and hypocotyls, but not of roots. Wide variation in size and shape of epidermal plastids, occasionally displaying grape-like morphology, associated with a disturbed localization of FTSZ1 ring (PubMed:26500667). Severe inhibition of plastid division, producing motile disorganized dots and short filaments of FtsZ (PubMed:29967285). Reduced number of enlarged etioplasts in cotyledons associated with fragmented FtsZ filaments (PubMed:23936263). Altered localization of MCD1 and MinD1 in puncta on the envelope membranes of giant chloroplasts (PubMed:29967285). The mcd1 arc12 double mutant contains a heterogeneous population of chloroplasts, including some with multiple membrane constrictions associated with an organization of FtsZ1 in multiple rings similar to those observed in mcd1 single mutants (PubMed:29967285)
No visible phenotype. Myob1 and myob2 double mutant has no visible phenotype, but a delayed flowering. Myob1, myob2 and myob3 triple mutant has a significant height reduction and a delayed flowering. Myob1, myob2, myob3 and myob4 quadruple mutant has a significant height reduction, a reduced rosette diameter and a delayed flowering
Embryonic lethality by 10.5 dpc caused by increased Shh signaling and ventralization throughout the developing neural tube. Defects in Gli3 processing
Impairs the efficient localization of TUS1 to the bud neck at late anaphase
Ciliopathy phenotypes. Although a large percentage of cells fail to generate cilia because of a substantial defect in ciliogenesis, the numbers of centrioles is apparently normal
RNAi-mediated interference leads to maternal-effect lethality (PubMed:9834181). Expression of glp-1 in all four blastomeres including the posterior EMS and P2 blastomeres, instead of only in the ABa and ABp blastomeres at the four-cell stage (PubMed:12702662). Abolished asymmetry in neg-1 expression in AB descendants (PubMed:26096734)
Single gene disruption has no growth defects, no accumulation of magnetite, forms empty intracellular magnetosome vesicles, decreased levels of MamB, mislocation of MamC in 1-3 foci or rarely in a shortened chain (PubMed:22007638). Magnetosome vesicles are fewer and smaller, aligned in a chain with the filament, only a few have very small crystals. Other, possibly precursor magnetosome vesicles are visible. MamI mislocalized to cell inner membrane or in 1 to a few patches (PubMed:27286560). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Does not significantly decrease the growth rate under nutrient-rich conditions (PubMed:28894236)
Mice are viable and fertile but show decreased synaptic connectivity between the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3-ACs
Deficient mice show significant altered central dopamine receptors regulation, deficient lymphocyte chemotaxis and increased acute inflammation and neutrophil chemotaxis
Mice show defects in inflammasome function in response to S.typhimurium (Salmonella) infection. Differences are however observed depending on the strain background: in a C57BL/6J strain background, no striking differences are observed compared to wild-type mice following Salmonella infection. While in a BALB/c strain background, mice are highly susceptible to orogastric but not intraperitoneal infection with Salmonella: enhanced lethality is preceded by impaired expression of endothelial adhesion molecules, lower neutrophil recruitment and poor intestinal pathogen clearance
Growing cells lacking this gene have an unchanged spontaneous mutation frequency, even in triple mutT/yjhB/yvcI disruptions (PubMed:12483591), however they are more sensitive to DNA-damaging agents such as H(2)O(2) or t-BHP (PubMed:16513759). A double ytkD/mutT disruption has a greater mutation frequency than the ytkD disruption, as well as an increased sensitivity to DNA-damaging agents (PubMed:16513759). These properties are also seen in stationary phase cells (PubMed:19011023)
Disruption of the gene impairs the ability of the mutant strain to survive in activated murine macrophages and in guinea pigs, but not in resting murine macrophages (PubMed:14617138, PubMed:16256440). Infection of guinea pigs with the mutant strain results in a 70-fold reduction in the bacillary load of spleens in infected animals (PubMed:14617138, PubMed:16256440). Disruption of the gene has no significant effect on the morphology and growth of the mutant in defined liquid culture medium (PubMed:14617138)
Homozygous lethal (PubMed:21304601). Embryogenesis appears normal, probably due to maternal contribution of the protein (PubMed:21304601). However after hatching flies show a 2-3 day delay in development and most die before the third instar stage (PubMed:21304601). Conditional RNAi-mediated knockdown in the female germline does not affect fertilization but embryos fail to initiate proper mitotic divisions and do not hatch (PubMed:25340780). Embryos contain only two nuclei; a small nucleus with a centriolar spindle and a large round nucleus (PubMed:25340780). Knockdown in stage 3 oocytes often results in the heterochromatic regions of all four chromosomes failing to separate during prometaphase I and metaphase I of meiosis I (PubMed:25340780). In some instances, the anchored heterochromatic regions become stretched as the centromeres attempt to move towards the spindles poles creating long, abnormal heterochromatin structures that project from the main chromosome mass with centromeres at their tips (PubMed:25340780). Spindle assembly is not affected (PubMed:25340780). Spindles are bipolar although one or both sides of the spindle are elongated due to the abnormal heterochromatin projections (PubMed:25340780)
Tracheal morphogenesis in embryos is grossly normal. The tracheal tubes fail to fill with gas during the final stages of maturation, and instead remain full of fluid. The hydrophobic outer cuticle layer of the trachea appears to be disrupted and forms membranous structures extending into the tracheal lumen
No visible phenotype under normal growth conditions, but plants lacking LPXD1 accumulate very low levels of 2,3-diacylglucosamine-1-phosphate
Cells are sensitive to visible light (which is lethal)
Deletion mutant lacks ornithine lipids but synthesizes a component corresponding to the lyso-ornithine lipid precursor. It does not affect resistance to bactericidal peptides or permeability of the outer membrane
Displays plantlets with retarded development under low Mg(2+) concentrations growth conditions
Results in a hypersensitivity to the azole drugs fluconazole, miconazole, and itraconazole (PubMed:28052140). In addition to the medical azoles, shows also hypersensitivity to widely used azole fungicides, bromuconazole, tebuconazole, difenoconazole, and propiconazole (PubMed:28052140). Impairs growth under hypoxic conditions and attenuation of virulence in murine infection model for aspergillosis (PubMed:28052140). Cures azole resistant phenotype in a clinical strain with cyp51A G54E mutation (PubMed:28052140)
RNAi-mediated knockdown females lay fewer eggs and display a reduced hatch rate when mated to wild-type males, and wild-type females lay fewer eggs when mated to RNAi-mediated knockdown males (PubMed:24395329). RNAi-mediated knockdown in the dorsal paired medial neurons impairs middle-term (MTM) and long-term memory (LTM), but has no effect on normal aversion learning and anesthesia-resistant memory (ARM) (PubMed:27629706). RNAi-mediated knockdown in alpha/beta mushroom body neurons impairs MTM and LTM (PubMed:27629706). RNAi-mediated knockdown in all mushroom body neurons has no effect on learning and ARM (PubMed:27629706)
Leads to the accumulation of the benzomalvin dipeptide precursor anthranilate-N-methylphenylalanine (Anth-NmPhe)
Results in impairment of vegetative growth, conidiation, stress response, hyphal appressorium-mediated penetration, and pathogenicity (PubMed:31484736). Leads to altered glycoproteins during conidiation (PubMed:31484736). Significantly reduces the expression levels of hydropgobin MPG1 (PubMed:31484736)
Simultaneous RNAi-mediated knockdown of vitellogenins vit-1, vit-2, vit-3, vit-4 and vit-5 increases life span, causes accumulation of neutral lipid and an increase in lgg-1 foci in the proximal intestine; however, does not affect fertility or pharyngeal pumping rates (PubMed:26671266). Expression of transcription factors pha-4 and daf-16 are increased (PubMed:26671266)
Viable and normal in appearance
Abolishes the production of ACR-toxin and impairs the pathogenicity (PubMed:22779742). Does not affect growth rate of cultures, sporulation, and spore germination (PubMed:22779742)
Flies that have reduced expression of all isoforms (due to transgenic RNA interference targeting the common C-terminal region) exhibit severe muscle degeneration in larvae and adult flies. Muscles were either ruptured, absent, or the fibers were detached from their attachment sites at tendon cells. These are necrotic, not apoptotic processes
Null mutants are viable and fertile but display defective adaptive and innate immune responses due to signaling defects in multiple cell types including B-, T- and mast and natural killer cells
No visible phenotype during vegetative growth rate in rich media, no difference in sporulation or initial spore germination. Spores have a significant delay in outgrowth, between 60-90 minutes cells swell rather than elongate, upon eventual elongation they have a larger diameter and are often bent (PubMed:9139922, PubMed:9851991). Single deletions have reduced peptidoglycan (PG) synthesis and turnover rates. Double ponA-pbpA deletions spores have greatly decreased viability, PG synthesis and elongate poorly; increased levels of Mg(2+) increase spore viability. Double pbpA-pbpD deletions spores have greatly decreased spore outgrowth and peptidoglycan synthesis (PubMed:9851991). Single pbpA mutants are less resistant to ceftriaxone and mecillinam. Double pbpA-pbpH mutants cannot be made, suggesting the 2 proteins have redundant, essential roles in vegetative growth (PubMed:12896990)
Eliminates avoidance of elevated temperatures along a thermal gradient
Worms display increased adult life span and constitutive dauer formation (PubMed:10377425). RNAi-mediated knockdown in ADL sensory neurons results in reduced octopamine inhibition of the aversive response when animals are exposed to 100% 1-octanol (PubMed:22124329)
Impairs the production of compactin and leads to the accumulation of the ML-236A intermediate (PubMed:12172803)
Mice show growth defects, premature senescence, IR sensitivity, and inability to support V(D)J recombination (PubMed:9875844). XRCC4 deficiency causes late embryonic lethality accompanied by defective lymphogenesis and defective neurogenesis manifested by extensive apoptotic death of newly generated postmitotic neuronal cells (PubMed:9875844)
RNAi-mediated knockdown results in premature alae formation at the L3 larval stage (PubMed:21471153). This phenotype is partially suppressed in a sea-2 bp283 mutant background (PubMed:21471153)
A msbB1/msbB2 double mutant is impaired in its capacity to cause TNF-alpha production by human monocytes and to cause rupture and inflammatory destruction of the epithelial barrier in the rabbit ligated intestinal loop model of shigellosis. Mutants have no defect in their ability to enter into epithelial cells
Grows more slowly in amino acid-free medium (SD), when combined with disruption of MPC3
Mutant mice show decreased susceptibility to passive cutaneous anaphylaxis associated with decreased mast cell degranulation
Plants develop approximately half the number of lateral roots without affecting significantly aerial parts development, and are resistant to A.tumefaciens transformation
Fails to produce tenellin, and leads to the accumulation of 11-hydropretellenin A, 12-hydropretellenin A, 13-hydropretellenin A, 14-hydropretellenin A, 12-oxopretellenin A and prototellinin D
Cells lacking this gene accumulate coproporphyrinogen-III both under aerobic and anaerobic conditions, however they do not exhibit any obvious growth defects. The hemN hemF double mutant do not abolish aerobic and anaerobic respiratory growth
No visible phenotype under normal growth conditions, due to the redudancy with AHA1. Aha1 and aha2 double mutants are embryo lethal
More sensitive to SDS (cell envelope stress) and hypoxic treatment in vitro. No effect in human THP-1 macrophage-like cells, intravenously inoculated BALB/c mice or aerosol-infected Hartley strain guinea pigs
Pups are born at less than the expected Mendelian rate, indicative of significant embryonic lethality. No obvious phenotype after birth; mice are viable and fertile (PubMed:21832056). Mutant mice have reduced circulating triglyceride and cholesterol levels when fed a high-fat diet (PubMed:17609370, PubMed:29899519). Besides, they display 30% lower non-fasted blood glucose levels and improved glucose tolerance when fed a high-fat diet. In contrast, glucose levels and glucose tolerance are not different from wild-type when mice are kept on a normal diet (PubMed:29899519). The retinal vascular network displays subtle alterations, including a somewhat larger diameter of veins and capillaries. Pups display a delay in pericyte spreading on newly formed capillaries in the retina, and defects in the organization of endothelial cell tight junctions. In retinas from 17 day old animals, hypoxia-induced pathological neovascularization is strongly reduced (PubMed:21832056). Some studies observed decreased survival of suckling pups and of adults kept on a high-fat diet due to intestinal pathologies, with lipogranulomatous lesions of the intestines and their draining lymphatics and mesenteric lymph nodes (PubMed:17609370). Other studies observed no such effects (PubMed:29899519)
Increased NPF or NPFR activity dominantly suppresses PAIN-mediated food aversion in postfeeding larvae. Deficiency in NPF/NPFR signaling causes decreased alcohol sensitivity and overexpression causes a hypersensitive response to alcohol sedation. Controlled functional disruption of NPF or NPFR neurons rapidly triggers acute resistance to ethanol sedation
The homozygous knockout of Slc39a8 is embryonic lethal by 16.5 dpc. Hearts exhibit hypertrabeculation and non-compaction phenotypes including excessive trabeculae and thin compact myocardium. These phenotypes are evident at 12.5 dpc and prominent at 14.5 dpc, and embryos that survive until 16.5 dpc display an even stronger phenotype. Ventricular septal defects are also observed. Some 14.5 dpc embryos exhibit body edema, suggesting that cardiac muscle function is compromised. Hearts display increased cardiomyocyte proliferation (PubMed:29337306). This is associated with decreased expression of metalloproteases and impaired degradation of the extracellular matrix leading to its aberrant accumulation in heart (PubMed:29337306). In mice homozygous for an hypomorphic allele of the gene, resulting in significant decreased expression of the protein, hematopoiesis and the development of multiple organs are affected from very early embryogenesis (PubMed:22563477). Conditional knockout of the gene at the level of the whole organism decreases manganese levels in tissues but has no effect on zinc and iron (PubMed:28481222). Conditional liver-specific knockout of the gene results in decreased systemic tissue manganese levels coupled to increased manganese in bile but has no effect on zinc or iron levels (PubMed:28481222)
Inactivation of the gene completely abolishes the ability to produce SFM-A
Reduced embryo size and neonatal lethality. Embryos and placentas are smaller and only a third of the expected number of mice survived birth. Mice that survive remain smaller throughout postnatal development
Abolishes the production of most pyranterreones, but accumulates pyranterreone 5
Plants lacking LWD1 do not show obvious phenotypic alterations. Plants lacking both LWD1 and LWD2 are early flowering and this phenotype is more prominent under short-day conditions
Impaired antisense-RNA-mediated gene silencing (e.g. suppression of overexpression of FCA-mediated FLC repression). Reduced fertility, early flowering, reduced organ size and pale leaves
No effect on bone mass under homeostatic conditions, however reduces osteoclast number, amount of bone destruction, number of osteolytic cavities and abundance of serum Acp5/TRAP levels in a lipopolysaccharide-induced bone destruction model
The double mutant smo1-1 smo1-3 shows no obvious phenotype
In plants lacking both NAP1 and NAP2, delayed leaf senescence but enhanced fruit yield and sugar content, likely due to prolonged leaf photosynthesis in aging plants
Defects in neuronal differentiation, axon branching, aberrant cell migration and abnormal aggregation behavior on lawns of bacterial food
Hermaphrodites are sterile and produce no oocytes due to the failure of the germ line to transition from spermatogenesis to oogenesis during oocyte development
Grows normally under saturating light (6000 lux), in low light (80 lux) grows poorly, decreased induction of puf and puh but not puc operons nor genes for bacteriochlorophyll biosynthesis (PubMed:7961455)
Cells are unable to produce tetrathionate from thiosulfate
Impairs the mycorrhizal structure development
Mutants are sterile and few are viable (PubMed:25366321, PubMed:25429148). Mutants have a slower growth rate, reduced lifespan and have defective vulval development displaying a severe protruding vulva phenotype (PubMed:25366321, PubMed:25429148). Mutants have disrupted RNA ligase activity which results in the presence of unligated tRNAs and defective tRNA processing (PubMed:25366321). RNAi-mediated knockdown results in reduced sensitivity to tunicamycin-induced endoplasmic reticulum (ER) stress and significantly reduced levels of spliced xbp-1 mRNA under tunicamycin-induced ER stress and non-stressed conditions (PubMed:25429148). RNAi-mediated knockdown in dopamine neurons enhances degenerative effects induced by alpha-synuclein and the neurotoxin, 6-OHDA (PubMed:25429148)
No visible phenotype under normal growth condition, but strong reduction in 4-aminobenzoate glucosyltransferase activity
Embryos undergo normal development until midgestation (12.5 to 13.5 dpc), at which time they undergo a dramatic loss in viability associated with combined cardiovascular and hematopoietic abnormalities (PubMed:26527618). Conditional deletion in the erythroid lineage is not lethal and does not lead to defects in the hematopoietic pathway (PubMed:34180713). Mice lacking Pcbp1 and Pcbp2 in the erythroid lineage die at midgestation; lethality is caused by impaired erythroid development and loss of blood formation (PubMed:34180713)
Loss of resistance to streptomycin and spectinomycin
The deletion strain is hypervirulent compared to the wild-type strain in infection studies with outbred Hartley guinea pigs and with C3H/HeJ mice but not with C57BL/6 mice. No phenotype when grown in culture upon disruption, probably due to functional redundancy among paralogs
Mice have a larger thymus with relatively fewer cortical thymic epithelial cells and this is associated with severe reductions in cortical CCL25 distribution and accumulation of DN2 thymocyte precursor cells in the medulla. The downstream effects materialize in reduced proportions of DN3 cells and significantly reduced numbers of cortical DN3 cells. Aberrant thymocyte development culminates in increased prevalence of spontaneous autoimmune-like disease, characterized by lymphocytic infiltration of peripheral organs
Accumulates fusicoccin H
Embryos are albino, can germinate but are unable to produce viable seedlings
Insertion mutant shows a slight decrease in NADK activity compared to the wild-type (PubMed:22056937, PubMed:27657983). Under photoheterotrophic conditions, mutation does not affect growth rate (PubMed:22056937, PubMed:30693583). Under photoautotrophic conditions, the growth curves of the wild-type parent and the mutant do not show any differences, but mutant shows large differences in NAD(P)(H) levels along with massive changes in metabolite profile (PubMed:27657983). Mutant exhibits a fast-growth phenotype under light-activated heterotrophic growth conditions and light and dark cycle conditions in the presence of glucose (PubMed:33560438)
Causes a reduction in parasite growth in the host erythrocyte (PubMed:30127496, PubMed:18054093). Reduces levels of the mature form of SERA5 but not of PEXEL-containing proteins (PubMed:30127496)
Mild, hypersensitive response-like lesions under long-day conditions at late growth stages. Enhanced salicylic acid (SA) accumulation and SA signaling-dependent disease resistance to Golovinomyces cichoracearum UCSC1 associated with enhanced H(2)O(2) accumulation and callose deposition in the infection site as well as higher expression of defense-related genes (PRs). Reduced endocytosis rates
Late bolting, early senescence and increased tolerance to abiotic stress
No obvious phenotype except a slightly delayed abscission of sepals and petals after fertilization (PubMed:18375658). Reduced dimethylated 'Lys-4' histone H3 (H3K4me2) but normal trimethylated 'Lys-4' histone H3 (H3K4me3) at FLC, FT, NAP and XTH33 nucleosomes (PubMed:18375658, PubMed:24102415). Accelerated transition from vegetative to reproductive development (early flowering), especially in medium-day conditions (12 hours light / 12 hours dark), due to FLC and FT epigenetic misregulation (PubMed:18375656, PubMed:24102415). Altered transcription levels of target genes (PubMed:18375658). Decreased XTH33 but normal WRKY70 transcript levels in atx2 plants (PubMed:18375658)
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236)
Several spikelet and inflorescence developmental defects, including altered florets palea and lemma structures, abnormal numbers, size, appearance, and identities of floral organs, reduced primary branches number, and longer and fewer grains associated with a loss of grain shattering. Crook-neck-like rachilla between the sterile lemmas and the rudimentary glumes in place of the spikelet abscission zone (AZ)
No visible phenotype due to the redundancy with TRZ4. Trz3 and trz4 double mutants are lethal
No PcrA-related phenotype
RNAi-mediated knockdown results in a slightly shorter and stouter body
Knockout enbryos die by E12.5
Loss of (3Z)-hex-3-en-1-yl acetate production
No effect on male fertility and pollen germination, but siliques slightly shorter. Anx1 and anx2 double mutants show defects in male gametophytes due to premature pollen tube rupture
Inactivation does not abolish EsxA (ESAT-6) secretion, EsxA-specific immunogenicity and enhanced virulence
Essential
Delayed flowering (PubMed:32392578). Impaired systemic acquired resistance (SAR) toward pathogenic bacteria (e.g. Pseudomonas syringae pv tomato DC3000 (avrPto)) (PubMed:32392578). Lost ability of dehydroabietinal-dependent (DA, a diterpenoid tricyclic diterpene) to trigger flowering and systemic acquired resistance (SAR) (PubMed:32392578)
Light green to yellow seeds
Abnormal male gametophyte (pollen) development including deformed cell wall, two-celled phenotype (one regular vegetative nucleus and one sperm cell-like nucleus, both in center) and semtimes leading to abortion
Reduced sensitivity to abscisic acid (ABA) during germination. Insensitivity to ABA in terms of root growth inhibition (e.g. root cell division and elongation) and stomatal response leading to increased water loss under dehydrated conditions (PubMed:27913741). Delayed senescence phenotype
Decreases the rate of potassium efflux from the cell (PubMed:9430707). Sensitive to high pH (PubMed:9430707)
Enhanced drought tolerance
Roots of knockout plants form very few aborted and non-functional nodules under nitrogen limitation when inoculated with Mesorhizobium loti
Females infected with L.guyanensis containing dsRNA LRV1 virus, have an increase in footpad swelling and, in thickness and in immune cell infiltration in the dermis (PubMed:35651602). They develop larger lesions (PubMed:35651602). Ifnb and Il6, but not Tnfa, mRNA levels are also increased (PubMed:35651602). Parasite burden is similar to infected wild type female (PubMed:35651602). In contrast, males infected with L.guyanensis containing dsRNA LRV1 virus have similar lesions compared to infected wild type male (PubMed:35651602). However, Ifnb mRNA levels in the lesions and parasite burden are reduced (PubMed:35651602)
No visible phenotype. Rbl10 and rbl11 double mutants have no visible phenotype
Female mutants are sterile due to delayed oocyte maturation and meiotic spindle assembly
Plants show a semi-sterile phenotype and a drastic decrease of meiotic recombination, indicating that SPO11-2 and SPO11-3 are not functionally redundant. SPO11-1 and SPO11-2 are both required for double-strand breaks induction. Drastic decrease in chiasma formation at metaphase I associated with an absence of synapsis in prophase, due to the inability to make double-strand breaks (DSB) (PubMed:19763177)
Loss of sensitivity to PSY1 (PubMed:17989228). Loss of PSY1 induced phosphorylation of AHA2 and reduced hypocotyl elongation (PubMed:25267325). Increased symptom formation, disease index, lesion size and fungal growth after infection with A.brassicicola, but increased resistance to bacterial infection (PubMed:23062058)
Normal levels of methylation at cytosine 2860 of 25S rRNA
RNAi-mediated knockdown results in adult muscle defects which include irregularities in sarcomeric structures, disorganized integrin attachment complexes, and increased mitochondrial fragmentation (PubMed:22253611). RNAi-mediated knockdown in integrin attachment complex component mutants unc-112 (e669su250) and unc-52 (r367) blocks the protein degradation which normally results from complex disruption (PubMed:22253611). RNAi-mediated knockdown suppresses cell death in the neurodegenerative models deg-3 (u662), gsa-1 (Q227L) and mec-4 (u231) (PubMed:12410314)
Accumulates the paspalane 13-desoxypaxilline (PubMed:22750140)
Mutants show a slight decrease in the internalization level of some proline-rich antimicrobial peptides of eukaryotic origin
The mutant shows deficiency in glycolate oxidase activity and is non-viable in air; leaves become necrotic within 7 days and plants die within 15 days. When the mutant cells are shifted from high CO2 to air in light, they accumulate glycolate linearly for 6 hours to levels 7-fold higher than wild type and 11-fold higher after 25 hours
Impaired repression activity on gibberellic acid (GA)-induced promoters
RNAi-mediated knockdown disrupts hus-1 localization to the nucleus
Decreases heterochromatin formation at rDNA and subtelomeres
Impairs the production of gibberellins (PubMed:9917370)
Leads to a significant reduction (over 95%), but not abolition, of citrinin biosynthesis (Ref.1)
Deletion leads to a complete loss of PldA secretion
Impaired long-term potentiation (LTP) and hippocampus-dependent learning
Shows trichomes with no branching
Larval lethality
Does not affect fumonisin production (PubMed:17147424)
Leads to sensitivity to camptothecin, thiabendazole, microtubule depolymerizing drugs and DNA damaging agents
Increases cellular trehalose levels (PubMed:16946258). Decreases conidial germination frequency (PubMed:16946258). Resistance to thermal stress (PubMed:16946258)
At 3 dpf, mutant animals exhibit cerebellar hypoplasia, a reduction in the anterior structures, including the optic tecta, and an increase in cell proliferation in the head (PubMed:30609410). At 2 dpf, aberrant mitotic cell-cycle progression and an increase in cell death (PubMed:30609410). At 4 dpf, renal defects including renal aplasia, hypoplasia and enlargment of the proximal renal convolution tubule are observed (PubMed:30609410). Morpholino knockdown results in reduced head size, increased cell proliferation in the head, increased cell death and increased renal-tubule diameter (PubMed:30609410). In a double morpholino knockdown together with nphp1, the increase in renal-tubule diameter is exacerbated (PubMed:30609410)
Glossy and sticky pollen, but very little changes in the exine patterns. Drastic reduction in flower buds of the content in N1,N4,N8-tri-(hydroxyferuloyl)-spermidine and N1,N4-di(hydroxyferuloyl)-N8-sinapoyl-spermidine
Female sterility. Male semi-sterility accompanied by production of Ste protein crystals in primary spermatocytes. Mutant males fail to maintain germline stem cells
Mice have a combination of defects in leukocytes and platelet functions which are reminiscent of the human leukocyte adhesion deficiency type III syndrome (LAD3). They display bleeding diathesis due to a defect in platelet aggregation and are resistant to collagen-induced thrombosis. In parallel, they also display impaired response to acute inflammation associated with defects in beta-1 and beta-2 integrin-mediated adhesion of neutrophils
Plants show a 30-40% reduction in the thylakoid ATP transport and metabolism
Embryo defective. Developmental arrest of the embryo at the cotyledon stage
Impairs the production of neosartorin and accumulates two isomeric metabolites, moniliphenone and 2,2',6'-trihydroxy-4-methyl-6-methoxya-cyldiphenylmethanone
Deficiency of 40S ribosomal subunit formation, this is likely to be caused by insufficient 18S rRNA stability
Minor growth defect caused by late 18S rRNA processing defects, leading to a ribosomal subunit imbalance with a reduced 40S to 60S ratio
Lack of membrane integrity. Seedling lethality
Deficient mice have diarrhea associated with proximal tubular acidosis and hypotension. Males are infertile
The vapB-vapC operon is not essential; cells grow faster than wild-type on rich and minimal glycerol-containing medium. The operon deletion mutants die faster than wild-type under potassium-limiting conditions, which is prevented by overexpression of vapB (PubMed:24417293). The vapB antitoxin gene can be disrupted without causing death, however despite elevated vapC transcription, no VapC protein could be detected, suggesting that RNA processing and translational coupling are important in VapC expression. A triple TA mutant (missing vapB-vapC, mazE-mazF and phd-doc TA systems) survives antibiotic challenge, suggesting the TA systems are not required to generate drug-resistant cells. However the triple mutant is more sensitive to oxidative and heat stress, and does not survive long-term starvation during aerobic growth on complex medium. There is a difference in the level of branched-chain amino acids, which may play a role in monitoring the nutritional supply and physiological state of the cell
Mice display an increase in the ratio of liver to body weight and significantly lower total ketone bodies in the serum and liver after 24 hours of fasting (PubMed:30704899). Conditional deletion in the liver results in impaired autophagy flux, glycogen and lipid accumulation and liver fibrosis (PubMed:30704899)
Plants display a glucose-insensitive phenotype which allows them to grow on high glucose concentration medium (>6% glucose) (PubMed:12690200, PubMed:26528314, PubMed:30511331). Dwarf plants with reduced roots and leaves growth (PubMed:26528314, PubMed:30511331)
Reduced plant growth. Increase in the size of mitochondria and decrease in the number of mitochondria per cell
Cells lacking this gene grow normally on gluconeogenic substrates (succinate or glycerol)
Complete embryonic lethality; embryos present a clear developmental delay at 8.5 dpc, and the hearts of mutant embryos fail to beat properly at 9.5 and 10.5 dpc. Cardiomyocyte-specific gene disruption gives rise to animals that develop dilated cardiomyopathy and myocardial fibrosis at about 20 weeks after birth; mutants have a median life span of about 46 weeks, much shorter than wild-type. Mitochondria from mutant cardiomyocytes are smaller than normal, but have normal cristae architecture and display no significant difference in the assembly of respiratory complexes. Keeping mice with a cardiomyocyte-specific gene disruption on a high-fat diet leads to weight gain and reduced glucose tolerance, and prevents the development of cardiomyopathy. Mice with Yme1l gene disruption in cardiomyocytes and skeletal muscle have a median life span of 125 weeks, similar to wild-type. Their heart function is normal, in spite of the presence of fragmented mitochondria due to the loss of Opa1 cleavage at position S2. Skeletal muscle mitochondrial dysfunction is known to be associated with impaired insulin signaling and glucose intolerance, and as expected, these mice display impaired glucose homeostasis with decreased fasting insulin levels in the blood serum and glucose intolerance. Mice with a double, cardiomyocyte-specific gene disruption of Yme1l and Oma1 have normal cardiac function and do not display myocardial fibrosis. Likewise, cardiomyocyte mitochondria have normal morphology. Mice with a skeletal muscle Yme1l gene disruption plus a double, cardiomyocyte-specific gene disruption of Yme1l and Oma1 display normal glucose tolerance
Reduced chitin-induced MPK phosphorylation. Exhibits chitin-induced cell wall-associated depositions comparable to wild-type. Reduced accumulation of PAL4 and CHS transcripts in response to chitin. Double deletion mutant MEKK1a/MEKK1b does not phosphorylate MPK and is unable to induce the depositions in response to chitin. The growth of the double mutant is inhibited within 1 min after chitin exposure as in wild-type
Flies exhibit disrupts to motoneuron guidance and connectivity. Loss of ab in class I neurons results in malformation of their typical comb-like arbor patterns and generation of supernumerary branch terminals
No change in morphology and persistence of induced-cell death
Mutant mice are born at the expected Mendelian rate, but show growth retardation. They exhibit severe osteopenia, involving a decrease in type I collagen in the bone matrix and a decline in the activity of osteoblasts. Osteoblasts show abnormally expanded rough endoplasmic reticulum, containing of a large amount of bone matrix proteins, including COL1A1 and osteocalcin/BGLAP
No visible phenotype (PubMed:22210914). Mutant mice are born at the expected Mendelian frequency and are fertile and healthy (PubMed:22210914). In response to gardiquimod (GRD) or Resiquimod (R-848), 2 synthetic TLR7 ligands, levels of TNF, IL12B, IFNB1 and CXCL10 in splenic macrophages and in serum are severely reduced (PubMed:25848864). In response to CpG DNA, a TLR9 ligand, levels of TNF and IL12B but not IFNB1 and CXCL10 are severely reduced (PubMed:25848864). In response to infection with influenza virus (strain A/PuertoRico/8/34 (PR8)) the production of TNF, IL12B, IFNB1 and CXCL10 is severely impaired, the viral load is higher in the lungs, recovery after weight loss and survival are also impaired (PubMed:25848864). No defects in response to lipopolysaccharide (LPS) (PubMed:25848864). Reduced symptom severity in a mouse model for the autoimmune disease systemic lupus erythematosus (SLE) (PubMed:25848864)
Knockout mice show normal growth rates (PubMed:33746041). Increased expression of inflammatory markers and enhanced recruitment of macrophages to the cardiac infarct border 3 days post-myocardial infarction (MI) (PubMed:33746041). Increased infarct size, interstitial fibrosis, and area of cardiac hypertrophy, leading to decreased left ventricular ejection fractions, fractional shortening and increased spontaneous ventricular arrhythmia at 28 days post MI (PubMed:33746041). Overall survival of mice following MI was significantly decreased (PubMed:33746041). In hippocampal knockdown mice, long-term retrieval-induced memory in response to contextual fear is impaired (PubMed:28642476). Increase in Camk2a T-296 autophosphorylation and Gria1/GluA1 abundance following conditioning and long-term memory retrieval (PubMed:28642476)
When the skfA-skfB-skfC-skfE-skfF-skfG-skfH operon is deleted, increased rate of spore formation; a double operon deletion (sdpA-sdpC plus skfA-skfH) makes spores even faster (PubMed:12817086). In a single gene deletion no SKP is produced (PubMed:20805502)
In contrast to its homolog C29F7.3, does not confer resistance to 5-fluorouracil
Basal levels of phosphorylated kinase p38a/ERK2 are decreased significantly. Increased sensitivity to oxidative stress-induced death
Cells do not produce PGA
Mutant is impaired in osmo-dependent choline uptake activity. The betT1/betT2 double mutant is completely impaired in choline transport
Abnormal cell morphology of developing RMEL/R neurons. Arrested development at larvae life stage due to its requirement in the pharynx. Defects in SDQR neuron cell dorsal-ventral migration. Aggregation behavior is diminished. Abolishes guanylate cyclase gene expression in the URX neurons
Essential for growth, it cannot be deleted. Under non-permissive conditions, conditional mutant shows growth arrest, dramatic morphological changes and cell lysis. Depletion causes accumulation of peptidoglycan precursors in the cytoplasm
Fewer root cap layers; reduced number of columella (COL) and lateral root cap (LRC) cell layers from late embryogenesis due to impaired periclinal divisions in epidermal (Epi)/LRC and COL stem cells
Deficient mice do not show obvious changes in gross hippocampal morphology or impairments in locomotion, anxiety, smell, or pain sensitivity, however they display autism-like traits, such as reduced ultrasonic vocalization (number of calls and duration), decreased preference for social novelty, and display an increased time self-grooming (PubMed:26755066). Nervous system-specific conditional knockout mice show abnormal social and olfactive behavior, abnormal CNS synaptic transmission, impaired synaptic vesicle exocytosis, impaired presynaptic calcium entry, and decreased synaptic vesicle pH (PubMed:29362376)
Deletion mutant accumulates polyP
Not required for aerobic growth on ethanolamine (EA) supplemented with cobalamin (vitamin B12). A double eutJ-eutG deletion is not required for growth in the above conditions. A double eutG-eutH deletion is not required for growth in the above conditions. Slightly attenuated in a mouse model of infection (PubMed:10464203). A non-polar deletion mutant grows on EA from pH 5.5 to pH 8.0, but does not grow at pH 8.5, no change in acetaldehyde release on EA plus vitamin B12 (PubMed:16585748)
Cells lacking this gene show the absence of malate synthase activity and to the inability to grow on acetate
Normal growth on defined Evans agar supplemented with ammonium chloride, sodium nitrate, monosodium L-glutamate or L-glutamine, but no growth when supplemented with high concentration 200 mM putrescine, 50 mM cadaverine, 25 mM spermidine or 25 mM spermine as a sole nitrogen source. Defective formation of aerial mycelium and deficient sporulation on defined Evans agar supplemented with glutamate. Nitrate, glutamine and ammonium supplementation of this medium results in increased actinorhodin (blue antibiotic) and prodigiosin (red antibiotic) production. Grows poorly and with a decreased life span in a rich complex liquid medium supplemented with a mixture of putrescine, cadaverine, spermidine and spermine (25 mM of each) showing abnormal mycelium morphology (PubMed:28487688). No essential blockade on morphological or physiological differentiation as still able to sporulate and produce actinorhodin (PubMed:16932908). No growth in complex LB medium supplemented with a mixture of 25 mM putrescine, 25 mM cadaverine, 25 mM spermidine and 25 mM spermine, inhibited growth with high concentrations of spermidine or spermine (100 mM) in the medium, but survival of the cells with only putrescine or cadaverine supplementation of the medium. Able to grow under starvation conditions on defined Evans agar supplemented with glutamate, glutamine, ammonium, nitrate or urea as a sole nitrogen source, but no growth with 200 mM putrescine, 100 mM cadaverine, 100 mM spermidine or 50 mM spermine (PubMed:35409114). Intracellular accumulation of polyamines putrescine, cadaverine and spermidine (PubMed:28487688, PubMed:35409114)
Deletion mutant is unable to use L-threonate or D-erythronate as a carbon source
Whole body FBW7 knockout is embryonic lethal. Conditional knockout mice in which FBW7 expression is specifically abolished in osteoclasts display severe bone resorption, bone fragility and low bone mass (PubMed:29149593). Conditional knockout in liver reduces the amplitude of the diurnal expression of many core clock genes and the altered expression of a large number of genes controlling liver metabolic pathways (PubMed:27238018)
Does not affect the biosynthesis of heptelidic acid
Deficient mice are viable, fertile and display normal physiological behaviors (PubMed:20159446, PubMed:20147530). Levels of 2-AG are reduced by up to 90% in liver (PubMed:20147530). In contrast, brain 2-AG and arachidonic acid (AA) content are unaltered in deficient mice (PubMed:20159446, PubMed:23103940, PubMed:26779719). However one report describes a decreased by up to 50% of 2-AG in the brain (PubMed:20147530). Disruption of Daglb results in depletion of 2-AG, AA, and prostaglandins (PGE2 and PGD2) in microglia and macrophages, and also attenuated pro-inflammatorycytokine (TNF-alpha) signaling in response to lipopolysaccharide stimulation (PubMed:26779719, PubMed:23103940). In contrast, lipid profiles of neurons are not impacted (PubMed:26779719). Endocannabinoid-mediated retrograde synaptic suppression is intact in deficient mice (PubMed:20159446)
Loss of NPQ induced by strong white or blue-green light, cells are more sensitive to high light
Abolishes the production of cercosporin but accumulates the naphthoquinones called cercoquinone A and cercoquinone B (PubMed:17660442, PubMed:26938470). Leads to dark orange-red mycelia with significant export of colored compounds into the agar (PubMed:26938470)
Disruption of the gene causes a considerable amount of guanosine accumulation together with a slight increase in the inosine productivity
Moderate irregular xylem, but normal plant morphology
Seedling lethal (PubMed:19268593). Abnormal cell division with defective cytokinesis due to abnormal phragmoplast organization and arrested cell plate expansion, leading to enlarged cells and nuclei as well as incomplete cell walls (PubMed:11089872, PubMed:19268593). In metaphase and anaphase, enlarged cells with several mitotic spindles or a single greatly enlarged spindle (PubMed:19268593). Impaired endosperm development with altered cellularisation (PubMed:12421698, PubMed:23451828). Cellularization defects caused by disorganized radial microtubules (MT) arrays in seedlings and adult tissues, as well as during male meiocyte development. Irregular and incomplete or absent intersporal cell walls in male tetrads, resulting in abnormal pollen and reduced fertility. Sterile and aborted ovules (PubMed:23451828)
Higher H3K9K14 acetylation in the genomic region of the FT locus leading to an enhanced accumulation (PubMed:25281686, PubMed:12837946). In ebs-2, acceleration of flowering associated with a shorter adult vegetative phase (PubMed:11340178, PubMed:12837946, PubMed:25281686). Other developmental defects include smaller leaves and siliques, reduction in seed dormancy, plant size, and fertility, and partial suppression of LEAFY disruption (e.g. lfy-6) effects (PubMed:11340178, PubMed:25281686)
Leads to methionine auxotrophy
Reduced trichome branch number
Egg-laying defect whereby 30% of eggs are laid at an early developmental stage (PubMed:12954868). Increased sensitivity to the acetylcholine esterase inhibitor Aldicarb, which results in accelerated paralysis likely due to enhanced acetylcholine release by ventral cord neurons and enhanced depolarization of muscles on one side of the body (PubMed:18614679). Exploratory behavior is similar to wild-type, but in contrast to wild-type, there is irregular locomotory behavior characterized by a 9.2% increase in speed of locomotion over a 1-minute interval, decreased turning frequency, reduced rate of reversals, and a 25% increase in the maximal distance covered over a 40 second interval (PubMed:18614679). Double knockout with the G-protein coupled receptor for GABA subunit gbb-2 results in a slight increase in sensitivity to Aldicarb and accelerated paralysis 50 minutes following exposure to Aldicarb as compared to the gar-2 and gbb-2 single mutants (PubMed:18614679)
Intestinal cells exhibit abnormally abundant rab-5 and rab-7 positive enlarged early endosomes, which accumulate basolaterally recycling transmembrane cargo molecules and fluid indicating a block in basolateral transport (PubMed:16394106, PubMed:20573983). On the other hand, rme-1 positive recycling endosomes are missing. No endocytic trafficking defects in oocytes or coelomocytes (PubMed:16394106). Almost complete loss of cnt-1 endosomal localization in the intestinal epithelium. Overaccumulation of endosomal phosphatidylinositol-4,5-bisphosphate (PubMed:22869721). Nearly complete loss of basolateral endosomal tubule extensions of the intestine (PubMed:25301900). The endosomal localization of tbc-2 is strongly reduced leading to increased rab-5 association with membranes in the intestinal epithelia (PubMed:26393361). Cholesterol-dependent accumulation of glr-1 in large accretions running along the length of the ventral cord neurite bundle while synapses don't have general formation defects. Animals display a decreased frequency of locomotional reversals and significantly reduced response to nose-touch suggesting reduced glr-1 signaling (PubMed:17761527, PubMed:20573983). Rab-10 lin-10 double mutant displays additive glr-1 trafficking defects indicating that they both regulate endocytic recycling of AMPA receptors to synapses, but most probably along distinct regulatory pathways (PubMed:17761527). Complete loss of dense core vesicles (DCVs) secretion of neuropeptides from DA/DB motoneurons, while synaptic ultrastructure and synaptic vesicles (SV) exocytosis as well as coelomocyte function are unaffected (PubMed:23100538). Severely reduced proximal dendritic arborization in multi-dendritic PVD sensory neurons, but minimal effect on dendritic branching and growth on the distal area of the PVD. The growth of PVD axon is normal. Reduced dendritic growth of the multi-dendritic FLP neurons, but no effect on the dendritic growth of unbranched dendrites of the OLL, AWB and AWC neurons. Accumulates dendritic membrane proteins dma-1 and hpo-30 within intracellular vesicles within the growing PVD dendrites and have decreased dendrite membrane localization of these proteins. Rab-10 rab-8 double deletion mutant has enhanced dendritic arborization defects than rab-10 deletion alone in PVD neurons (PubMed:26394140). PVD dendritic branches are reduced in the posterior region of the cell, but are excessive in the distal anterior region of the cell. Dma-1 fails to localize to the plasma membrane in the posterior dendrite (PubMed:26633194). Rab-10 rab-8 double deletion mutant has disrupted transport of membrane proteins to the plasma membrane of the nonpolarized germline cells (PubMed:20573983)
Male mice develop normally and reach adulthood but have smaller testes. Spermatogonia are present at the periphery of tubules but are strongly depleted and spermatids are absent, due to defects during meiotic prophase
No visible phenotype. Sac3a, sac3b and sac3c triple mutants show no visible phenotype
RNAi-mediated knockdown in the prothoracic gland (PG) delays the onset of pupariation by prolonging the L3 larval stage
Mutants born at the expected frequency (PubMed:34715025). At 8 dpc, they have a reduced beat frequency of nodal cilia (PubMed:34715025). The motility of tracheal cilia in adult mice is also affected (PubMed:34715025). 25% of tracheal cilia axonemes have missing dynein arms (PubMed:34715025). Double PIERCE1 and PIERCE2 mutants show high levels of embryonic and pre-weaning lethality. The few mice that survive birth display hydrocephalus and laterality abnormalities, dying by 20 days of age (PubMed:34715025)
In sweet9-1, reduced nectar production accompanied by starch accumulation in nectaries
RNAi-mediated knockdown survives to adulthood, but suffer from neurodegeneration including age-dependent retinal disorganization with retinal holes and pigment cell loss (PubMed:29739804). RNAi-mediated knockdown in the neurons results in a similar phenotype (PubMed:29739804). Effects are probably due to elevated levels of very long chain fatty acids (VLCFAs) (PubMed:29739804). In contrast, glial-specific RNAi-mediated knockdown results in no defect (PubMed:29739804)
Morpholino knockdown in embryos results in decreased red blood cells and an arrest in T-cell progenitors, as well as increased vascularity. The vascular defects could be rescued by wild-type gene and by thalidomide treatment
Hypersensitive to the cytotoxic metal cadmium
RNAi-mediated knockdown is adult lethal at low temperatures. At 15 degrees Celsius there is a severe reduction in the number of larvae and flies do not survive to the adult stage. Second instar larvae moved from 23 to 14 degrees Celsius show no heat production in response to the decrease in temperature. In second instar larvae body wall preparations, maximal oxygen consumption rate (i.e. mitochondrial respiration) is significantly higher than the controls, and the addition of the uncoupler carbonyl cyanide p-[trifluoromethoxy]-phenyl-hydrazone followed by the ATP inhibitor oligomycin results in a threefold increase in the oxygen consumption rate. Uncoupling in larval mitochondria in response to the addition of palmitate is also suppressed
Cells grow to slightly higher density than wild-type in sublethal levels of streptomycin (PubMed:25316676). A quadruple rpnA-rpnB-rpnC-rpnD deletion shows no change in basal RecA-independent recombination (PubMed:28096446)
Visual response is impaired, characterized by abnormal electroretinogram (ERG) recordings which show loss of the prolonged depolarization afterpotential which normally occurs in response to blue light. Expression levels of the opsins Rh1 and Rh4 are severely decreased
Inactivation leads to bacterial death at temperatures above 33 degrees Celsius. Phenotype at nonpermissive temperatures includes an arrest of cell division followed by the formation of bulges or filaments
Hypersensitivity to ABA, and strong drought and salinity tolerance. Reduced sensitivity to cytokinin (mostly in roots). More rapid germination, reduced requirement for light, and decreased far-red light sensitivity. Early senescence promoted by darkness. Reduced sensitivity to N-isobutyl decanamide. Defects in procambium proliferation and absence of secondary growth. Enhanced freezing tolerance. Impaired benzyladenine (6-BA)-mediated repression of the iron uptake pathway. Disturbed cytokinin-mediated flower development abnormality. Impaired meristematic development in seedlings
Deficient mice are viable and fertile and develop normally (PubMed:12835414, PubMed:14566340). However mice display a marked reduction in inflammatory responses and reduced pain sensitivity (PubMed:12835414). PTGES deletion results in a reduction of PGE2 levels in the central nervous system in association with the impaired LPS-induced febrile response (PubMed:14566340)
Severely reduces, but does not abolish xenovulene A biosynthesis
Plants show a semi-sterile phenotype and a drastic decrease of meiotic recombination, indicating that SPO11-1 and SPO11-3 are not functionally redundant. SPO11-1 and SPO11-2 are both required for double-strand breaks induction. Drastic decrease in chiasma formation at metaphase I associated with an absence of synapsis in prophase, due to the inability to make double-strand breaks (DSB) (PubMed:19763177)
Disruption of interfascicular cambium formation and development in inflorescence stems
Exhibits slightly reduced growth on nutrient-rich medium, and displays a severe reduction in conidiation (PubMed:19363139). Leads to the loss of pathogenicity on cucumber cotyledons (PubMed:19363139). Is defective in the early stages of infection-related morphogenesis, such as in germination (PubMed:19363139)
Plants have no wax crystals and are male sterile
Inhibited submergence-induced and ethylene-dependent underwater hypocotyl elongation
Gene disruption leads to the accumulation of 6-deoxyerythromycin A, an antibiotic with increased stability at low pH
Defecation defects including a distended intestinal lumen, a strong defect in intestinal content expulsion and reduced anterior body wall contraction
Knockout specifically targeted at seam cells causes an increase in seam cell number, but this is caused by a combination of anterior daughter cells adopting the seam fate, and abnormal differentiation of posterior seam cells (PubMed:31740621). RNAi-mediated knockdown also increases the number of seam cells as a result of anterior daughter cells failing to differentiate and adopting the seam fate (PubMed:31740621, PubMed:23633508). RNAi-mediated knockdown in L1 larvae causes a severe loss of M lineage-derived coelomocytes and sex myoblasts (PubMed:19427847). The loss of sex myoblasts is due to a fate transformation of M.v(l/r)pa cell to the fate of its posterior sister M.v(l/r)pp cell (PubMed:19427847). The loss of coelomocytes is due to a combination of reduced proliferation of the dorsal M lineage and fate transformation of M.d(l/r)pa cell to the fate of its posterior sister M.d(l/r)pp cell (PubMed:19427847). Guts are missing in about 4% of embryos, but this increases to 99% in a transcription factor skn-1 mutant background (PubMed:17296929). Loss of ceh-34 expression in the M lineage (PubMed:19427847). RNAi-mediated knockdown reduces expression of various genes, e.g. tbx-35, ceh-51 and irx-1, in anterior cell lineages, and increases expression of those genes in posterior lineages (PubMed:35660370). Decreases nuclear localization and increases cytoplasmic localization of beta-catenin/sys-1 (PubMed:17567664). An increase in seam cell number, caused by RNAi-mediated knockdown at the L1 larval stage, is suppressed in an egl-18 mutant background (PubMed:23633508). RNAi-mediated knockdown in L1 larvae causes a large increase in the number of lateral midline cells strongly expressing egl-18 (PubMed:23633508)
Mutant can still form salicylate and Dha, but is no longer able to synthesize pyochelin
Hydrocephalus and incomplete brain folding by 48 hours post fertilization (h.p.f.), as well as significantly reduced eye size reminiscent of microphthalmia in patients suffering of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies in human
Mice showed impaired gluconeogenesis in the liver
Impairs autofusarin biosynthesis and leads to a yellow pigmentation via accumulation of the intermediate rubrofusarin (PubMed:16879655)
Cells grow normally at 30, 37 and 43 degrees Celsius. They have a slightly slower growth phenotype as they enter stationary phase
Has a respiratory growth defect. Shows partial growth on nonfermentable carbon source
Spore formation delayed by about 2 hours, about 20-fold decrease in spore formation; 2-fold decrease in parasporal crystal formation, 30% decreased c-di-AMP levels at 18 hours growth. Double cdaS-disA and cdaS-cdaA mutants are viable, but neither double cdaA-disA nor triple cdaA-cdaS-disA mutants can be made, suggesting c-di-AMP is essential
Deficient mice lack olfactory response to uroguanylin and guanylin
reduces capacity to damage oral epithelial cells
Semi-dwarf plants, yellow-green leaves, leaf lesion mimic phenotype, abnormal anther morphology, defects in pollen viability and seed sterility
No phenotype under photosynthesis or low-aeration respiratory growth conditions. In contrast, under highly aerated respiratory growth conditions, the absence of AcsF leads to an accumulation of MgPMME
Mice display a severe combined immunodeficiency phenotype. The have a small lymphoid organs that do not contain mature B and T-lymphocytes. The arrest of B- and T-cell differentiation occurs at an early stage and correlates with the inability to perform V(D)J recombination. The frequency of homologous immunoglobulin pairing is much lower. No obvious neuroanatomical or behavioral abnormalities have been observed
Upon Mg(2+) depletion, deletion mutants have lower intracellular Mg(2+) levels than wild-type cells
Leads to hypersensitivity to toxic ergosterol analog, amphotericin B, calcofluor white, and to thermosensitivity
Deletion mutant mice show normal embryonic and postnatal development. Homozygous mutant females have normal fertility. Males do not show germ cell defects during the initiation of spermatogenesis. However, germ cell degeneration is observed in about half of adult males
No visible phenotype under normal growth conditions, but mutant plants show enhanced susceptibility to the pathogen Pseudomonas syringae pv. tomato DC3000
Inactivation leads to kasugamycin resistance. Cells lacking this gene show cold-sensitivity phenotype, altered ribosome profiles, and small subunit rRNA-processing defects
No visible growth or ribosome-associated phenotype
Larval lethal due to severe defects in mitochondrial DNA (mtDNA) replication and synthesis (PubMed:26554610). Larvae display a severe decrease in body weight and a 70% decrease in mtDNA levels but are able to survive on maternal contribution until the third larval stage (PubMed:26554610). RNAi-mediated knockdown in male germline cells, results in defective clearance of paternal mitochondrial nucleoids (containing mitochondrial DNA) during spermatogenesis (PubMed:28318978). Eggs fertilized by mutant males do not display an increase in male mtDNA levels, suggesting that it does not affect regulatory pathways in the embryo that prevent the paternal transmission of mtDNA (PubMed:28318978)
Higher germination rate in the presence of glucose and at supraoptimal temperature conditions. Rga, gai, rgl1, rgl2 and rgl3 pentuple mutant displays constitutive GA responses even in the absence of GA treatment
No visible phenotype in culture or upon infection of mice. Significantly fewer persister cells are generated in vitro following exposure to rifampicin and gentamicin, but in infected mice no differences are seen
Leads to constitutive hyphal growth and avirulence in a mouse model
Disruption of the gene does not affect growth of the cell
No reduction in aluminum tolerance
Simultaneous disruption of panD and panC gives a mutant unable to grow in the absence of panothenate. The double mutant has a highly attenuated disease response in BALB/c and SCID mice; immunocompromised BALB/c SCID mice survive on average 36 weeks as opposed to 5 weeks for mice infected with wild-type bacteria, while immunocompetent BALB/c mice survive indefinitely. In wild-type mice bacteria grow for 3 weeks then undergo a steady decline, bacteria persist over 8 months in SCID mice (PubMed:12219086). The double mutant is sensitive to PZA but not POA in liquid culture, beta-alanine but not pantothenate antagonize the effect of PZA at pH 5.8 (PubMed:25246400)
Depletion experiments (via anti-sense RNA) show greatly reduced induction of the clp regulon (clpP1, clpP2 and clpC1) after vancomycin treatment
Leads to attenuated virulence in a mouse oral biofilm model of infection
Impaired locomotion (PubMed:20346720). While wild-type animals move by alternating dorsal and ventral flexions along the body length, producing a regular sinusoidal track on bacteria, the track pattern left by mutants is irregular, with increased wavelength (distance between successive peaks of a wave) but unchanged amplitude of the wave (PubMed:20346720). An increase of H3K9me2 and H3K27me2 levels is observed (PubMed:20346720). RNAi-mediated knockdown suppresses mitochondrial stress-mediated longevity (PubMed:27133168)
Proembryo abortion in the double mutant lacking both SMO1-1 and ACBP1 associated with altered fatty acids (FAs) and sterols profiles (PubMed:28500265). The double mutant smo1-1 smo1-3 shows no obvious phenotype (PubMed:31341004). The double mutant smo1-1 smo1-2, which accumulates dramatically 4,4-dimethylsterols, is embryo lethal, with embryo exhibiting severe defects, including no cotyledon or shoot apical meristem formation, abnormal division of suspensor cells, and twin embryos, and is associated with altered auxin and cytokinin homeostasis (PubMed:31341004)
Mice exhibit impaired motor coordination due to the inability to eliminate multiple climbing fibers during innervation of Purkinje cells. 40% of Purkinje cells are still innervated by multiple climbing fibers. Exhibit food-anticipatory activity comparable to that of wild type mice but they do not reduce their late night activity or adapt their food intake amount to restricted feeding as efficiently as wild type mice
Root hair phenotype, characterized by short root hairs with bubble-like extrusions at the tip. Alteration of the main root cellular morphology. Reduced xyloglucan content
Deletion affects both cell morphology and protein export. Mutants are defective in the insertion into the cytoplasmic membrane of three topologically distinct membrane proteins, MalF, AcrB and FtsQ
Female-specific lethality, associated with sexual transformation phenotypes (PubMed:29555755). Hemizygous males are sterile (PubMed:29555755). Sexual transformation phenotypes resemble other N6-methyladenosine (m6A) factors, such as sexual transformations, Sxl splicing defect, held-out wings, flightless flies and reduction of m6A levels (PubMed:29555755)
The double mutant a36 a39 produces inviable pollen which undergoes apoptosis-like programmed cell death, exhibits a compromised pollen tubes micropylar guidance and has degenerated female gametes (PubMed:27872247). The double mutant a36 a39 accumulates abnormally highly methylesterified homogalacturonans and xyloglucans in the apical pollen tube wall (PubMed:27872247)
Defects in both embryo and seedling development, and pale yellow seeds. Die as embryos, probably because of intolerance to desiccation and abnormal protein and lipid body accumulation in mature seeds, but immature mutant seeds can be germinated in culture and lead to short life seedlings defective in shoot and root development, with reduced hypocotyls elongation in the dark (PubMed:16113228, PubMed:15266054). Seedlings accumulate less anthocyanin, are intolerant to desiccation, form trichomes on cotyledons, and have reduced accumulation of storage proteins and lipids (PubMed:16113228). Suppressor of the aluminum- (Al) hypersensitive mutant als3-1 that fails to halt root growth after Al exposure, does not accumulate CyclinB1;1 in the root tip, and fails to force differentiation of the quiescent center and is thus highly tolerant to high Al levels (PubMed:22345493). In dse1, reduced plasmodesmata (PD) formation and cell-to-cell transport during embryogenesis, due to reduced PD size exclusion limit. Dse1 embryos are developmentally retarded and accumulate anthocyanin at the junction between the cotyledons and hypocotyls, corresponding to the shoot apical meristem (SAM). Reduced apical dominance leading to the production of small abnormal flowers, often with altered organ numbers. Infertility due in part to the abnormal development of stamen with under-extended anther filaments that don't release pollen, and due in part to abnormal ovules lacking pollen attractiveness (PubMed:22411811)
Abolishes the production of arthripenoids but leads to the accumulation of a new compounds that have no hydroxy groups at C1' and C10' positions
Deletion results in a pantothenate auxotrophy. Deletion mutant accumulates pro-PanD
High chlorophyll fluorescence phenotype due to an impaired photosynthetic electron flow (PubMed:17971335). Seedling lethal when grown on soil. On agar plates supplied with sucrose, seedlings grow very slowly with a chlorotic phenotype. Deficiency in the accumulation of the subunits of the cytochrome b6f complex and lack of covalent heme binding to cytochrome b6 (PubMed:17971335, PubMed:18593701)
Altered DNA methylation of root hair-related genes and altered phosphate (Pi)-responsive root traits (PubMed:29061907). Abnormal responses upon Pi starvation leading to the formation of very short root hairs instead of increased lateral root formation and increased root hair length (PubMed:29061907). On low-Pi media, altered H3K4 and H3K27 trimethylation levels at the transcriptional start site of a subset of genes encoding key players in Pi homeostasis thus leading to a reduced transcription of these genes (PubMed:29061907, PubMed:29301952). Under Pi-replete conditions, constitutive Pi deficiency root phenotype such as attenuated primary root growth associated with increased root hairs development (PubMed:29061907, PubMed:29301952). Accumulation of proteins involved in chromatin remodeling and altered distribution of reactive oxygen species along the root (PubMed:29301952)
No visible phenotype. Mice are viable and fertile, and have normal brain morphology. Likewise, there is no change in the electrophysiological properties of cerebellar Purkinje cells and in the shape and frequency of action potentials
Deletion of the atoSC locus renders cells not motile or responsive against any chemoattractant or repellent independently of the atoSC inducer's presence
Reduced plant height and grain size (PubMed:27879391). Erected leaves, with reduced lamina joint adaxial and abaxial sclerenchyma cell length (PubMed:29610209)
Plants display lesion formation or plant death, and low contents of glucose, fructose, inositol, and threonic, succinic, fumaric, and malic acids
Increased growth of the perineurial glial layer of the larval peripheral nerve
Mice have normal testis and fertile sperm
Impairs growth on non-fermentable carbon sources (ethanol and glycerol)
Infected guinea pigs mutant and wild-type bacteria grow comparably (PubMed:16735723). A double rsbW-sigF disruption shows no effect in the presence or absence of rifampicin (PubMed:20729364)
Loss of cleavage of accessory gland proteins Acp26Aa and Acp36DE in females mated with mutant males (PubMed:24514904). RNAi-mediated knockdown in males results in incomplete and delayed processing of Acp26Aa and Acp36DE in females mated with these males
Leads to increased resistance to zymolyase treatment
RNAi-mediated knockdown causes a slight decrease in lifespan and in brood size. Enhanced proteasome activity, specifically in the intestine
Probably a complete knockout; no growth phenotype or large transcript changes at 34 degrees Celsius; at 24 degrees Celsius growth is considerably slower, while expression of a few genes is decreased (groES, groEL1, groEL2 and sll1611) or increased (pyrB, sll1911, sll1515 and rimO) (at 70 umol/photon/m(2)/s, 1% CO(2)) (PubMed:19926653, PubMed:32209657). At 24 degrees reduced chlorophyll and phycocyanin content and a gradual reduction in photosynthetic O(2) evolution; cells are locked in state 1 and unable to undergo state transitions, the plastoquinone pool is oxidized, leading to down-regulation of psaA and psaB transcripts and thus decreased PSI levels (PubMed:22575444). A partial knockout allowing expression of the first 224 residues as a 25 kDa truncated protein at 30 degrees Celsius has reduced growth, 20% reduced O(2) evolution and 10% reduced electron transport, at 20 degrees Celsius has similar, more severe effects; no growth with rapid loss of viability, little to no photosynthetic O(2) evolution, 50% reduced electron transport, decreased pigment content, smaller cell size and considerable intracellular disorganization (at 30 umol/photon/m(2)/s, sterile air) (PubMed:22368073). The latter mutant is able to concentrate inorganic carbon but cannot use it to fix CO(2) (PubMed:22368073). The truncated protein is constitutively expressed at 30 and 20 degrees Celsius and is no longer subject to normal regulation i.e. has lost cold-shock induction and dark-induced repression (PubMed:23119089, PubMed:24509313)
Gonadotrope-specific knockout females are supra-fertile with enhanced folliculogenesis, numbers of ovulated eggs per cycle and litter sizes relative to control mice (PubMed:30364975). Double knockout females for TGFBR3L and gonadotrope-specific TGFBR3 are infertile. They have increased serum follicle-stimulating hormone (FSH), pituitary protein content relative to controls. They have larger ovaries with increased numbers of antral follicles and corpora lutea (PubMed:34910520)
A single rdlB mutant does not form the rodlet layer on spores; disruption can be complemented by rdlB from S.tendae or S.griseus but not by any rdlA. Decreased levels of rdlA mRNA (PubMed:15228525). A double rdlA-rdlB deletion shows no effect on spore germination, growth rates, differentiation of aerial hyphae into spores or surface hydrophobicity on a number of media, but spore surface rodlets are missing and cells adhere less strongly to a polysytrene surface (PubMed:12067338). In the double rdlA-rdlB mutant chaplin proteins are still correctly localized to the cell wall of aerial hyphae (PubMed:12832396). In the double rdlA-rdlB mutant aerial hyphae development is strongly delayed under high osmolarity (10.3% sucrose or 0.5 M KCl) (PubMed:22309453)
No visible phenotype under normal growth conditions, but homozygous double mutants pank1-1 and pank2-1 are embryonic lethal
Defective in supporting the G0 state, while normal under vegetative condition
Cannot grow on sulfate, sulfite or butanesulfonate as sole sulfur source
Results in increased endocrocin production (PubMed:22492455)
Cells display lacks of coated pits, lacks of coated vesicles and large translucent vesicles that serve as endosomes and contractile vacuoles, and displays impaired macropinocytosis and osmoregulation defects. Phagocytosis is normal in loss-of-function mutant. Mutants lacking chcA show defects in the regulation of pseudopod formation, uropod stability, cell polarity and chemotaxis, and stream and aggregate more slowly than wild-type cells in response to starvation. Late development is impaired in mutants lacking chcA which show defects in prestalk and prespore cell patterning, and spore cells fail to differentiate. Mutants lacking chcA display defects in the sorting of precursor hydrolases from the constitutive secretory pathway to the lysosomal pathway, and reduced secretion of mature alpha-mannosidase from the lysosome to the extracellular space. Mutants lacking chcA fail to undergo cytokinesis in suspension culture due to the failure to assemble a functional contractile ring
Destroys the ability to make protoperithecia (female organs), but does not affect male-specific functions (PubMed:8913744)
Mutant mice develop normally and are fertile. No abnormalities can be found in the retinal structure, rhodopsin content and fundus appearance of their eyes. Mice display a mild visual phenotype of impaired dark adaptation and accumulation of 11-cis- and 13-cis-retinols and 11-cis- and 13-cis-retinyl esters in the eyes
Mutant mice have early-onset severe deafness associated with a rapid degeneration of cochlear hair cells but have a normal endocochlear potential (PubMed:25217574). Mutants show no increase in plasma CCK levels after orogastric gavage with fatty acids (PubMed:23863714)
Conditional deletion in photoreceptor cells leads to 50-fold decrease in Gbeta-Ggamma dimer formation and more than 10-fold decrease in light sensitivity. A 20-fold reduction in Gbeta5 and RGS9-1 expression is also observed, causing a 15-fold delay in the shutoff of light responses
Embryos display mild to severe hydrocephalus and significantly reduced eye size, reminiscent of pathological defects in Walker-Warburg syndrome
Deletion of the genomic region encompassing the entire yodT-yodS-yodR-yodQ-yodP-kamA gene cluster has no noticeable effect on growth either in rich or minimal medium, does not affect sporulation, and does not cause osmotic sensitivity or influence the compatible solute pool of this soil bacterium
Mice were born at a much lower rate than predicted by the Mendelian ratio (PubMed:10096021, PubMed:10885750). Homozygous pups generally die during the first hour after birth, although excess mortality occurrs throughout the first 3 weeks of life (PubMed:10096021, PubMed:11806972). Embryos are severely anemic during fetal development, due to an impairment in definitive hematopoiesis (PubMed:11806972). Surviving mice display defects in embryonic lens formation leading to severe microphthalmia in adults (PubMed:10096021, PubMed:10885750). Embryos show delayed bone formation and surviving mice display low bone mass throughout postnatal life (PubMed:15109498). Surviving null mice exhibit an increase in serum insulin levels and low blood glucose levels (PubMed:22298775). There is a decrease in total fat content, gonadal fat, lean mass and body weight (PubMed:22298775). Serum levels of osteocalcin/BGLAP are decreased (PubMed:22298775). PBK/AKT1-mediated phosphorylation of FOXO1 at 'Ser-258' is increased with a subsequent decrease of FOXO1-mediated transcriptional activity (PubMed:22298775)
Higher iron levels in their body compared to wild-type. Increased survival rate and reduced iron levels in their body in response to increasing Mn(2+) levels (PubMed:19924247). Reduced survival rate in response to high Mn(2+) levels or to infection mediated by pathogenic bacterium S.aureus (PubMed:19785996). Increased smf-2 mRNA levels (PubMed:19924247). RNAi-mediated knockdown increases resistance to Mn(2+)-induced CEP neuron death and prevents CEP neuron death-mediated by the neurotoxin 6-hydroxy dopamine (6-OHDA) (PubMed:19801673)
RNAi-mediated knockdown causes defects in patterning of the dopaminergic neurons of the male-specific genital sensilla (simple sense organs) known as rays (PubMed:12231628). Males are unable to sire progeny due to abnormal tail and gonad morphology, whereas hermaphrodites have no obvious phenotypic defects (PubMed:12231628)
Increased frequency of defecation, typified by a weaker repetition of the defecation motor program, an echo, 10 s after the primary motor program. Abnormal spicule protraction. Lack of tph-1 transcriptional up-regulation during learned olfactory aversion to bacteria. Reduced brood size, body length and width. Lethargic movement. A gain-of function mutation reduces locomotory activity, alters excitation of three muscle types and lengthens the period of the motor output of a behavioral clock. Both classes of mutation inhibit neurotransmitter release
Assembly of a compromised FAZ and defects in flagellum attachment and cytokinesis in procyclic trypanosomes resulting in generation of 0N1K cells (zoids) and multinucleated cells, demonstrates the role of an attached flagellum in cellular morphogenesis
Flies are viable and fertile with no noticeable behavior defects, but display reduced average weight. The size of the lipid droplets in larval fat bodies and the fat cells of young adults is significantly reduced, but exhibit ectopic lipid droplets in salivary gland and gut. Flies also display greatly reduced total glyceride levels and hypersensitivity to starvation
Null mutations in F9 embryonic carcinoma cells eliminated distal/subdistal appendages and prevented primary cilium formation. Loss of ODF2 also disrupted two mother centriole-specific NIN dots, while leaving one dot on the proximal end of mother and daughter centrioles
No effect on plant growth or seed germination, but reduced seed weight and total seed yield. Resistant to toxic concentrations of amino acids in the growth medium
Inactivation of the gene causes cold-sensitive cell growth
Shortened lifespan and reduced egg laying capacity (PubMed:14996832). Abolishes ctl-2 enzymatic activity and reduces the global levels of catalase activity to 20% of the total catalase activity observed in wild-type animals (PubMed:14996832). Increased size and clustering of peroxisomes (PubMed:14996832). Increased sensitivity to pathogens (PubMed:17483415). Reduced survival and resistance to E.faecalis in a daf-2 RNAi mutant background (PubMed:17483415)
Mutant embryos exhibit reduced dpp signaling during early embryogenesis. Maternal tkv is not active and is not secreted
Embryonic lethal. Impaired glucosidase activity leading to a strongly reduced cellulose content. Abnormal shrunken seeds with embryos arrested at the heart stage. Low levels of storage proteins in seeds accompanied by a loss of protein bodies, abnormal cell enlargement and occasional cell wall disruptions
Dwarf, narrow leaf, sterility and small grain phenotypes
Gametophytic lethality due to female gametophyte defect, when homozygous
No visible phenotype at birth. Mice are viable and fertile, but after two to four months, gradual hearing loss sets in, due to degeneration of epithelial support cells and hair cells of the organ of Corti and spiral ganglion neurodegeneration
Defects in root, hypocotyl, cotyledon and leaf development. Delayed flowering. Reduced growth, delayed flowering and hyperaccumulation of anthocyanins
Random budding pattern and morphological defects. Defects in fluid-phase endocytosis and defective internalization of the pheromone alpha-factor and uracil permease. Deletion has only a small impact on actin cytoskeleton organization. Deletion shows synthetic growth defects with thermosensitive mutants of PAN1, END3 and RSP5
Shows reduced conidiospore formation but does not affect penicillin production (PubMed:23264641)
Defects in rosette leaf development. bop1 and bop2 double mutant displays leafy petioles, loss of floral organ abscission, and asymmetric flowers subtended by a bract
Loss of protein expression throughout the embryo leads to pupal lethality. Loss of protein expression specifically in the nervous system causes synaptic undergrowth and a reduction in total synaptic area. Neuromuscular junction boutons are smaller and more numerous. Microtubule stability appears to be enhanced within neuronal axons and at neuromuscular junctions and synaptic currents are increased. Older flies exhibit numerous vacuoles in the neuropil and cortex. Adult coordination and locomotory behavior are compromised and lifespan is reduced. RNAi-mediated knockdown results in climbing defects, which can be rescued following exposure to the drugs methylene blue, phenazine, or N-acetyl-L-cysteine (PubMed:26744324). RNAi-mediated knockdown results in increased oxidative stress, which can be rescued following exposure to the drug methylene blue (PubMed:26744324)
Causes a lack of alpha-hydroxylated very long chain fatty acids in yeast sphingolipids. This confers resistance to syringomycin E, an antifungal cyclic lipodepsinonapeptide produced by Pseudomonas syringae
Leads to a decrease in benzylpenicillin production
Enhanced root waving when grown on agar plates
Death during ermbryogenesis before 8.5 dpc, suggesting that InsP6 is required for yolk sac function and development
Morpholino knockdown of the protein causes bradycardia and weakened myocardial contraction. Expression of hcn4 is decreased, and this may be the cause for the decreased heart rate. Morpholino knockdown causes defects in heart looping during embryonic heart development, probably due to the decreased expression of cardiac transcription factors in the anterior lateral mesoderm
Mutant mice exhibit tremor, ataxia, and significant motor paresis. Normal paranodal junctions fail to form, and the organization of the paranodal loops is disrupted. Contactin is undetectable in the paranodes, and potassium channels are displaced from the juxtaparanodal into the paranodal domains. Also results in a severe decrease in peripheral nerve conduction velocity (PubMed:11395000, PubMed:25378149). Double mutants CNTNAP1 and CNTNAP2 have wider Ranvier nodes compared to wild-type littermates (PubMed:25378149)
Null mutation abolishes ECA(CYC) synthesis
Females exhibit disrupted chromosome segregation in the first meiotic division and produce very low numbers of viable progeny. This female sterility is partially suppressed when some oocytes undergo precocious anaphase. Analysis of the X chromosome of these progeny demonstrates they have inherited the two maternal X-chromosome homologs and have no paternal chromosome markers. This suggests that they developed from diploid gametes that underwent gynogenesis, a form of parthenogenesis that requires fertilization
No visible phenotype. Elevated oxaloacetate levels
Embryonic lethality
Homozygous knockout mice exhibit no obvious phenotype, having normal growth rates, survival, fertility and litter sizes (PubMed:22427340). No organ pathology is detected (PubMed:22427340). However, they display decreased restenosis, the narrowing of blood vessels, upon vascular injury (PubMed:22427340)
Embryonic lethality and aborted seed when homozygous
Worms exhibit a developmental delay and mild reproductive defects. They have abnormal mitochondria in muscle and neuronal cells
The triple mutant myb97 myb101 myb120 is impaired in pollen tube growth arrest and subsequent sperm cell release in the female gametophyte thus leading to a drastically reduced fertility. Altered pollen tube-specific gene expression
Lack flagella. Altered cell surface properties including greater softness and lower density of the charged groups in the polymer layer
Mutant animals result in lethality during prenatal development. Examination of the homozygous deficient embryos reveal subcutaneous edema, hemorrhages and defects in the vascular wall of subcutaneous capillaries. Hearts of deficient embryos show ventricular septal defects (VSDs) and thinner ventricular walls, as well as blood abnormalities. Analyses on protein expression and localization in endothelial cells of subcutaneous capillaries and endocardium show that the protein and caveolae with stomatal diaphragm were present in wild-type embryos, whereas the diaphragm is missing in the caveolae of deficient embryos. Deficient mice are viable after birth and survive up to 4 weeks on a mixed C57BL/6N/FVB-N background. Embryos on the mixed background show edema in neck and back, but no visible hemorrhages. Postnatal mutant mice display marked reduction in body size and kinked tails compare with wild-type, but no VSDs are observed in hearts. Detailed examination of the capillaries of kidneys and pancreas reveal that the knockout mice does not form fenestrae with diaphragm
Mutant mice show delayed epithelial wound healing and an increased inflammatory response at the site of wounding, possibly due to increased elastase activity (PubMed:11017147, PubMed:25030421). Mutant mice show an increased tendency to die from toxic shock after exposure to bacterial lipopolysaccharide (LPS) (PubMed:12615907). Mutant mice are highly susceptible to M.tuberculosis; all die within 50 days after infection (PubMed:18322212). Mutant mice are highly susceptible infection by L.major. Contrary to what is observed with wild-type, the parasites are not restricted to the initial site of infection, but spread to spleen, liver and bone morrow. The skin lesions at the initial site of infection do not heal normally, but become bigger over time, in parallel with the spread of the parasites. The inflammatory response at the site of infection is more intense and persists longer than normal. Increased protease activity is observed in these lesions and may be the cause of the extensive tissue damage and necrosis (PubMed:25030421)
No visible phenotype under normal growth conditions, but mutant plants (e.g. lecrk-I.9-1 and lecrk-I.9-2) are defective in extracellular ATP-induced calcium response and susceptible to an avirulent isolate of the oomycetes Phytophthora brassicae and Phytophthora capsici. Impaired increase of cytoplasmic calcium concentration in response to extracellular ATP (PubMed:25301072)
Mice exhibit changes in retinal physiology and biochemistry. Outer segment disks of rod photoreceptors are disorganized, rod function is abolished although cone function remains. Mice lack rhodopsin, but not opsin apoprotein. Furthermore, all-trans-retinyl esters over-accumulate in the retinal pigment epithelium, whereas 11-cis-retinyl esters are absent
Poor in phototaxis assays
Disruption mutant can still grow on gentisate
Embryonic lethality caused by the absence of hexokinase activity (PubMed:7665557). Conditional deletion in pancreatic beta-cells causes severe diabetes shortly after birth leading to lethality within a week (PubMed:8530440, PubMed:9867845). Deficient islets show defective insulin secretion in response to glucose (PubMed:8530440). Conditional deletion in liver leads to mild hyperglycemia; however, mice display pronounced defects in both glycogen synthesis and glucose turnover rates during a hyperglycemic clamp (PubMed:9867845)
Impairs the formation of appressoria and the ability to infect rice plants, even when inoculated onto wounded leaves (PubMed:8946911, PubMed:23591122, PubMed:23454094). Leads to decreased transcription of the cell surface sensors MSB2 and SHO1 (PubMed:21283781). Blocks the transcription of both virulence genes GAS1 and GAS2 during appressorium formation (PubMed:12215509)
Leads to the persistence of YEN1 foci
Nucleoid defects. 15.7% of the cells are anucleate. Unaffected localization of the divisome. Chromosome-partitioning defects. Newly replicated chromosomes are not segregated (in 7% of the cells) or partially segregated and eventually truncated by the newly forming septum (in 21.8% of the cells). Segregation defects result in small cells, which constitute the majority of the anucleate cells (86.3%). No defects in chromosome replication. Chromosome-pinching takes place as nucleoid is asymmetrically distributed in elongated and constricting cells. Origin of replication (oriC) normally localizes as a single focus located around mid-cell of a nascent cell, but in cells lacking this gene, localization of oriC is strongly affected throughout the cell cycle and after duplication of the focus, most of the two foci remain near mid-cell and do not segregate to the daugher cells as in wild-type. The proportion of cells with only single foci is also significantly higher than in wild-type cells
Abrogates gliotoxin biosynthesis and leads to the accumulation of the shunt metabolite 6-benzyl-6-hydroxy-1-methoxy-3-methylene-piperazine-2,5-dione (PubMed:21513890)
Disrupts the X-chromosome specific localization of dpy-26, mix-1 and dpy-21
Disruption mutant lacks the ability to produce mycosides and mycocerosyl phthiocerol esters
Morpholino knockdown of the protein causes dramatic vascular impairment in embryos
Growth rate decreased by 4-fold when grown in presence of taurine as sulfur source
RNAi-mediated knockdown causes hypodermal or cuticular rupture, typically in the anterior body region (PubMed:24569038). Abnormal gap between the outer layer of hypodermis and muscle and the internal organs, perhaps due to defects in cuticle integrity (PubMed:24569038)
Leads to complete abolishment of the production of flavoglaucin and its congeners
Loss of glycerate kinase activity
Uncoordinated movements, also known as an Unc phenotype, most likely due to defective cell cycle progression defects in the Pn.a neuroblast lineage (PubMed:11463372). No obvious vulval development defects (PubMed:11463372). Programmed cell death defect in a ced-3 n2427 mutant background (PubMed:17237514). Double knockout with the n433 mutant of the synthetic multivulva class A protein lin-15A results in a multiple vulva (Muv) phenotype (PubMed:11463372). RNAi-mediated knockdown results in reduced postembryonic intestinal cell divisions (PubMed:12062054)
Decreases cellular superoxide dismutase activity (PubMed:16524904). Sensitive to thermal stress, and menadione (induces oxidative stress) (PubMed:33567338). Decreases virulence in a mouse model of infection (PubMed:33567338)
Cells lacking this gene produce normally mycoloylated cell wall components
Mutants are impaired in their ability to produce PHBV when grown on propionate
Larval lethal. Animals developmentally arrest prior to the first larval molt and subsequent growth is slow, although larvae survive for up to 8 days at 20 degrees Celsius. Animals also display uncoordinated locomotion, a shortened cuticle, pharyngeal defects, stunted gonad development, and abnormal vulval morphogenesis. Heterozygous worms have reduced brood sizes. Knockout in DD GABAergic motor neurons results in defective synaptic remodeling of DD GABAergic motor neurons (PubMed:33950834). RNAi-mediated knockdown in the germline, results in sterility and gametogenesis phenotypes including complete absence of oocytes, endomitotically replicating oocytes, and failure to lay eggs. Animals surviving to the L4 stage have hypodermal defects including lack of lateral alae and incomplete seam cell fusion, and fail to express col-19 and mlt-10. RNAi-mediated knockdown in lin-29 null mutants results in partial suppression of the molting and vulval RNAi phenotypes in L4 stage larvae
Morpholino knockdown of the protein causes severe truncation of pectoral fins at 72 hours post-fertilization
A double sdiA/ydiV deletion mutant leads to decreased cAMP levels which inhibits quorum sensing system 2. Repressed by glucose. Unlike the case in Salmonella typhimurium, disruption has no effect on motility or FliC levels
No effect on pollen germination and growth. Prk1 and prk2 double mutant has no effect on pollen germination and growth. Prk1, prk2 and prk5 triple mutant shows reduced pollen tube elongation
Reduced ethylene sensitivity in the double mutant srt1 srt2
Osteoclast-specific conditional knockout mice show normal tooth eruption, developed normally and are fertile, but trabecular bone mass in long bones and vertebrae is increased (PubMed:27777970). Osteoclast differentiation and number are normal, but bone resorption is decreased (PubMed:27777970). Show mislocalization of osteoclast lysosomes at the perinuclear area, instead at the cell periphery, and decreased ruffled border formation (PubMed:27777970)
Leads to the accumulation of pre-leporin C at the expense of leporins B and C (PubMed:26051490)
No visible phenotype under normal growth conditions, but the double mutants lip2p and lip2p2 are embryonic lethal
Disruption of fadD23 increases binding affinity to human macrophage-like cell THP-1 and shows a lack of sulfolipid 1 production as compared to wild-type
Loss of function of DISC1 in the dentate gyrus of adult mice results in reduced neural progenitor cell proliferation and the appearance of schizophrenic and depressive-like behaviors
No visible phenotype during 5 hours of growth, decreased resistance to oxidative stress caused by diamide
No visible phenotype, but loss of Cajal bodies
Reduced body size as compared to wild-type with the production of fewer progeny. Reduced spermidine levels, but increased putrescine accumulation. Double knockout with the polyamine transporter catp-5 results in a reduced brood size, delayed postembryonic development, and a more marked reduction in spermidine levels and a more marked increase in putrescine accumulation as compared to the single mutants
Impairs the production of mannosylerythritol lipids (MELs) and leads the sticking of cells to each other in hydrophobic environment (PubMed:15932999). Does not affect the virulence (PubMed:15932999)
12-fold spontaneous mutation frequency increase by rifampicin resistance screening
Results in a temperature-sensitive growth defect, cellular aggregation, loss of outer chain elongation of N-glycans, hypersensitivity to a range of cell wall perturbing agents, as well as to constitutively activated cell wall integrity pathway. Finally, leads to attenuated virulence in a mouse model of systemic infection and affects inflammatory response and the efficiency of neutrophil phagocytosis by the host
No visible phenotype. Voz1 and voz2 double mutant displays a late flowering phenotype under long-day conditions
Mice do not show any obvious abnormalities. Lymphocytes develop normally but activated lymphocytes show enhanced cell adhesion. Decreased phosphorylation of ERM proteins
Male mice are sterile due to reduced compaction of chromatin in sperm
Exibits aberrant expression of the pair rule gene even-skipped at the cellular blastoderm stage, leading to larval segmentation defects
Abolishes the production of azasperpyranone A(AZA-A)
RNAi-mediated knockdown increases susceptibility to infection by the Gram-negative bacterium P.aeruginosa (PubMed:20369020). Up-regulates expression of metallothionein mtl-1 (PubMed:28632756)
RNAi-mediated knockdown in the dorsal hippocampus impairs the late phase of long-term potentiation and the establishment of long term memory. Formation of short term memory is not affected
Mutant embryos are small and die at 9.5 dpc-10.5 dpc with an open neural tube, impaired extra-embryonic and embryonic vascularization, abnormal cardiogenesis and placental defects (PubMed:16423343). Reduced number of primordial germ cells in 8.0 dpc embryos (PubMed:28059165)
Pleiotropic effects on plant growth and development, including dwarf size, aberrant root development, multiple inflorescence stems and small siliques mostly sterile. Impaired shoot gravitropism and photomorphogenesis (PubMed:20180921). The double mutant plants rgtb1 and rgtb2 are male sterile, due to shrunken pollen with abnormal exine structure, and strong disorganization of the endoplasmic reticulum membranes (PubMed:25316062)
Maternal effect lethality. Blastomeres cleave synchronously until the fourth or fifth round, when synchrony breaks down. Cells also fail to segregate P granules. Terminal stage embryos fail to produce intestinal cells. Disruption post-hatching results in a protruding vulva, the two mirror-symmetric halves of the vulva fail to join into a single, coherent organ
Results in almost complete steril males. Mature sperm formed in small amounts in testes are immotile or weakly motile; seminal vesicles are largely empty. Primary spermatocytes appeared normal (Cysts of 16 cells); however, spermatids show irregularities in nuclear size and number. Spermatocytes I exhibit failure of nucleus-centrosome coupling that normally occur upon meiotic phase entry; those that progress through meiotic divisions exhibit defects in spindle assembly and chromosome segregation. When injected into Xenopus embryos, causes developmental arrest with gastrulation defects and defective cell cycles resulting in polyploid nuclei. RNAi injection into HeLa cells or Drosophila syncytial embryos causes mitotic cell cycle, giving rise to multinucleated polyploidy cells
No visible phenotype, due to the redundancy with SEC10a
No visible growth defects, no A-5 methylation of 5'-GACGAG-3' in strains NCIMB 3610 or PY79. Decreased promoter activity for promoters with the target sequence very close to the -35 SigA-binding box (scpA, hbs, rnhC, yumC and zapA)
Prevents the production of fumipyrrole and leads to reduced growth and sporulation, but does not affect virulence in infected mice (PubMed:25582336). Abolishes completely the production of isoquinolines as well as of pyrroles and leads to the production of a single brightly red shunt metabolite, the anthranilic acid-substituted isoquinoline (PubMed:27065235)
Mutants are viable, fertile with no apparent defects. Mice are more susceptibility to colitis induced by dextran sodium sulfate (DSS) than wild type littermates (PubMed:31862898). They display significantly increased tumor burden compared with WT mice assessed in colitis-associated colorectal cancer model induced by azoxymethane (AOM)-DSS (PubMed:31862898)
Severely decreases occurrence of ascospore release from ascus during sporulation (PubMed:19542306). Decreases sporulation-specific endo-1,3-beta-glucanase activity (PubMed:19542306). Abnormal endocytosis (PubMed:25040903). Following cell division, decreases levels of bipolar cell growth in the population (PubMed:34504165). Leads to monopolar localization of myo52 and bgs4 to the old cell tip (PubMed:34504165). Leads to abnormal localization of scd2, scd1, and activated cdc42 to cell tips (PubMed:34504165). Decreases interaction between actin-organizing protein arc5 and endocytosis protein end4 (PubMed:25040903). Stubby cells with abnormal actin cytoskeleton organization (PubMed:25040903). Sensitive to thermal stress in defined medium; partially rescued by knockout of lsb1 (PubMed:25040903)
Lethal (PubMed:27693235). RNAi-mediated knockdown in the wing results in a moderate decrease in wing size, decreased N-glycosylation, increased cell-death mediated by the JNK pathway and increased ER stress mediated by the unfolded protein response pathway (PubMed:27693235)
Increases sensitivity to antibiotics that target translation and decreases translational fidelity
Mutants show reduced aromatic amino acids uptake
Mutants have spores sensitive to heat, lysozyme and chloroform, and in which the cortex is absent
Mutant lacks several methyl groups in protein L11 (PubMed:331082, PubMed:372746). Null mutant is perfectly viable (PubMed:7715456, PubMed:331082)
Reduced efficiency of intracellular multiplication of tobamoviruses (e.g. crucifer strain TMV-Cg), characterized by a reduced amplification of TMV-related RNAs
Cells lacking this gene exhibit an auxotrophy for histidine, but can grow on minimal medium supplemented with histidinol
Mice show a complete lack of nuclear poly-ADP-ribosylation (PubMed:7578427). Mice are however viable and fertile (PubMed:7578427). Moreover, repair of UV and MNNG induced DNA damage are not affected (PubMed:7578427). However, about 30% of the mutant mice developed pathological skin aberrations on a mixed 129/Sv x C57B1/6 genetic background (PubMed:7578427). Mice lacking both Parp1 and Parp2 are not viable and die at the onset of gastrulation (PubMed:12727891). Female mice lacking both Parp1 and Parp2 in the uterus display infertility; defects are caused by decidualization failure and pregnancy loss (PubMed:34580230)
Deletion of the gene leads to the loss of the acp3U modification (PubMed:31804502, PubMed:31863583). Mutant has no obvious defect under normal growth conditions (PubMed:31863583). It shows motility defect and genome instability under continuous heat stress (PubMed:31804502)
Mutant embryos arrest at 9 dpc, they fail to complete gastrulation, have convergent-extension failure and a yolk sac membrane-ruffling phenotype (PubMed:28522536). Conditional knockdown in neural stem cells results in reduced brain weight at birth, however adult brain weights are normal and no other defects in brain development or morphology are apparent (PubMed:23071813). Double knockout for ZNF568 and IGF2 embryos and fetuses are found at near Mendelian ratios and indistiguishable of wild type littermates at 12.5 dpc to 18.5 dpc. However, after birth few dead pups are recovered (PubMed:28522536)
PHACTR1 knockdown results in migration defects of cortical neurons. Neurons do not migrate to layers II-IV of the cortical plate but remain in the lower part and the intermediate zone
Cells lacking this gene do not produce the MabO protein in the presence of nicotine, in contrast to the wild-type. Transcription of the nepAB genes and of the mao-ORF55-nbr operon is abolished in the mutant strain
Mutant does not mediate chemotaxis towards casamino acids
Deficient mice developed normally and are fertile. However mice display abnormal inflammatory and hypersensitivity reactions
No heavy metal-related phenotype
Cells lacking this gene have less than 1% of the isoguanine deaminase activity of the wild-type strain
Abolishes the production of chaetoglobosin A and 20-dihyrochaetoglobosin A (PubMed:23611317)
Increased salt sensitivity with reduced production of reactive oxygen species (ROS), reduced Ca(2+) influx, as well as decreased fluid-phase endocytosis
Leads to a strong increase of dihydroxynaphthalene (DHN)-melanin production
Cells lack O-GlcNAc post-translational modification and brood size decreases with increasing ambient temperature
Decreased growth rate, decreased energy transfer to photosystem II. Decreased accumulation of phycocyanin (PC), loss of the phycobilisome supercomplex and major phycobiliproteins ApcE and allophycocyanin. A double cpcG1/cpcG2 deletion has even less PC, but grows slightly better than this single mutant (PubMed:16049785, PubMed:17468217). Unable to perform state 2 to state 1 transitions (i.e. cannot transfer energy to PSII) (PubMed:19152018)
No visible effect on BMC morphology. Slight growth impairment on 1,2-propanediol and vitamin B12
Impaired glutamate-triggered (and Ala, Asn, Cys, Gly, Ser-triggered) membrane depolarization and calcium rise (PubMed:18162597). Slight reduction of photosynthetic yield of Photosystem II (PubMed:21110940). Overproduction and aberrant placement of lateral root primordia (PubMed:23590882)
Flies are viable and fertile, suggesting functional redundancy
RNAi-mediated knockdown results in increased protein aggregation in the oocytes of sperm-deficient young adult females which is not eliminated by mating
Deletion of ramC leads to loss of aerial hyphae and sporulation on rich or minimal solid medium after 4 days growth (PubMed:12169618, PubMed:12100547, PubMed:12453210). Deletion of the ramC-ramS-ramA-ramB operon on rich medium leads to an initially bald (no aerial hyphae) phenotype; after 4 days develops a substantial aerial mycelium. Wild-type mycelium on minimal medium. No expression of SapB, normal expression of chaplins. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011)
Reduced trichome production on sepals, cauline leaves, paraclades and main inflorescence stems. Reduced number and size of root hairs, due to reduced growth rate
Delayed senescence (PubMed:33809440). The double mutants lpeat1 and lpeat2 exhibit impaired growth, small leaves, short roots, reduced seed setting, reduced lipid content per fresh weight in roots and seeds, and large increases in lysophosphatidylethanolamine (LPE) and lysophosphatidylcholine (LPC) contents in leaves
No visible phenotype under normal growth conditions, but mutant seeds are hypersensitivite to inhibition of germination by abscisic acid (ABA)
Impairs hyphal growth, conidiation, conidial germination, and sexual reproduction (PubMed:30603875). Leads to a defect in pathogenicity and production of the mycotoxin deoxynivalenol (DON) (PubMed:30603875). Displays lipid droplet accumulation (PubMed:30603875). Shows reduced tolerance towards oxidative stress (PubMed:30603875). Leads to down-regulation of protein expression levels related to protein biosynthesis, fatty acid metabolism, cell wall synthesis, and oxidation-reduction reactions (PubMed:30603875)
RNAi-mediated knockdown results in ectopic MSL-binding sites on autosomes of male larvae
Homozygous knockout mice die soon after birth due to complications from cleft-lip and palate defects. Knockout embryos show alterations in inner ear morphogenesis and auditory hair cell differentiation
RNAi-mediated knockdown causes a moderate resistance to nicotine-induced paralysis (PubMed:15990870). RNAi-mediated knockdown in neurons in a hyperactive mec-10 (A673V) mutant background increases touch neuron (TRN) cell death (PubMed:24567339)
Embryonic lethal. At day 9.5 dpc, the distribution of homozygous embryos approaches Mendelian frequency while only occasional viable embryos were found at 10.5 dpc. Embryos exhibited growth retardation, scant numbers of red blood cells, and lacked vitelline vessels in the yolk sac. The visceral endoderm and mesoderm forming the yolk sac was not fused except at discrete foci. The heart was thinwalled and relatively bloodless, and often exhibited marked pericardial swelling. The heart lacks cardiac jelly, endocardial cushions and trabeculae. A marked reduction in vessels in homozygous embryos is also observed. Somites were present but distorted. Some of the 9.5 dpc embryos had failed to turn, and exhibited posterior defects as well as cephalic mesenchyme abnormalities
Perinatal lethality. Mice show failure in renal organogenesis, a severe reduction of most migratory hypaxial muscles including those of the forelimb, diaphragm and tongue, and severe rib-cage deformation. Besides, mice display craniofacial defects, including loss of inner ear structures. Pax2, Six2 and Sall1 expression is markedly reduced in the metanephric mesenchyme at 10.5 dpc during kidney development. Mice lacking both Six1 and Eya1 show defects in kidney development, complete absence of hypaxial muscle, severe reduction in epaxial muscle and a 5-10-fold by volume smaller pituarity than the wild-type gland
Cells lacking the tdc cluster (tyrS, tdc/tdcA, tyrP and nhaC-2) lose the ability to produce tyramine, and show reduced viability under acidic pHs in the presence of tyrosine
Reduces levels of isoamyl acetate production during fermentation to about 16% of those produced by the wild-type strain and causes a 40% reduction of ethyl acetate formation (PubMed:12957907)
Does not significantly decrease the growth rate under nutrient-rich conditions (PubMed:28894236). Causes only mild infection in point-inoculated spikelets of flowering wheat heads and impairs the spreading to nearby spikelets (PubMed:28894236). Reduces strongly the production of deoxynivalenol (DON), an important virulence determinant (PubMed:28894236)
Impairs CO(2) avoidance of larvae
Suppresses aerial hyphal growth,reduced colony surface hydrophobicity on solid media, and increases the ratio of macroconidia to microconidia (PubMed:24792348). Reduces the production of fumonisins (PubMed:24792348)
No visible phenotype. Growth is not inhibited by 2-methylhydroquinone or catechol
RNAi-mediated knockdown at the L1 larval stage, causes 20 percent increase in mei-1 protein levels
Mice display impaired B-cell development which does not progress pass the progenitor stage
Mice cells lacking XLas isoforms which are then transfected with these isoforms and a range of receptors demonstrate that the XLas isoforms are capable of functionally coupling to the same receptors as the Gnas isoforms including Adrb2, Crfr1, Pthr1 and Tshr
Cells lacking pccB and pccX genes accumulate a high level of propionyl-CoA, which would then inhibit CoA-dependent enzymes such as succinyl-CoA synthetase and could partially inhibit the TCA cycle. Also affected in growth and glucose utilization. Cells are unable to produce PHBV and show morphological abnormalitiess such as a decrease of PHBV granules
Dwarf plants and small seeds (PubMed:10377457, PubMed:10468600). Short internodes, leaves and panicles (PubMed:10377457)
Embryos hatch normally but first instar larvae show very little locomotion or feeding and die soon after hatching. Embryos show transcriptional defects with reduced expression of ebony and Ass. Somatically-rescued mutant larvae show defective germ line cell viability and differentiation with damaged DNA
Cells have no visible phenotype or growth retardation effect under light intensities ranging from 4 to 400 umol quanta/m2/s
Blocked in the perpetuation of CNN, CG and CNG methylation in repeated endogenous DNA accompanied by a reduction in 24-nt siRNAs. Reduction of heterochromatin association into chromocenters, coincident with losses in cytosine methylation at pericentromeric 5S gene clusters and AtSN1 retroelements. Impaired RNA-directed DNA methylation-dependent (RdDM) silencing. Defective in the maintenance of post-transcriptional RNA silencing
Embryonic lethal as a result of neuronal defects in the central nervous system (CNS) and peripheral nervous system (PNS) from stage 15, and defective muscle attachment from stage 16 (PubMed:7851790, PubMed:8817456). Defects in the CNS include stalling of the growth cones of pioneer axons of anterior and posterior corner cells (aCC and pCC) leading to abnormalities in the horizontal commissures and discontinuities in the longitudinal connectives respectively (PubMed:8817456). Defects in the PNS include defects in the location of the sense organs and in their projections in the sensory nerves, including missing neurons and more often defects in the axonal paths with erroneous connections with the ventral ganglia (PubMed:8817456). Defects in muscle attachment include the appearance of myospheroid-like bodies and the collapse of lateral transverse muscles 1-3 (PubMed:7851790)
RNAi-mediated knockdown results in a low frequency of dorsal defects in the developing embryo (PubMed:18816840). RNAi-mediated knockdown does not rescue the small eye phenotypes induced by hid and rpr overexpression (PubMed:22615583). Simultaneous knockdown of Ack and Ack-like results in many embryos failing to properly secrete the cuticle likely due to the loss of zip expression (PubMed:18816840). Mutants also display defects in the dorsal surface including holes in the cuticle and germband retraction failure (PubMed:18816840)
Strains are still able to make extracellular appendages that include PstS
Inactivation of the gene abolishes use of heme as an iron source
No longer induces the dsdX-dsdA operon
Larval lethal (PubMed:26904945). Animals show strong ciliopathy phenotypes, including pronephric cysts, axis curvature, left-right asymmetry defects and hydrocephalus (PubMed:26904945). Kidney tubules are dilated and polarity of cilia in the epithelium is disorganized (PubMed:26904945). Cilia length and number appear normal, but outer dynein arms are missing and cilia are paralyzed (PubMed:26904945). Morpholino knockdown of the protein results in similar phenotypes (PubMed:24094744, PubMed:26904945)
No visible phenotype under normal growth conditions. Decreased operating efficiency of photosystem II and an enhanced activity of cyclic electron transport around photosystem I. Altered photosynthetic carbon metabolism when grown under high CO(2) concentrations
In larval brain, results in deregulated cell cycle and defective differentiation of immature intermediate neuroblast progenitors ultimately leading to overgrowth and proliferation (PubMed:16564014, PubMed:18342578). RNAi-mediated knockdown in the larval brain results in overproliferation of type II neuroblast cells on the dorsal side of the larval brains but had no effect in the type I neuroblast lineage in the ventral nerve cord (PubMed:22143802, PubMed:18342578)
Cells lacking cnrN form abnormally small groups, which can be rescued by the expression of exogenous cnrN. They also overaccumulate cAMP during development and form abnormally small fruiting bodies. Five seconds after cAMP stimulation, a prolonged and higher peak of phosphatidylinositol (3,4,5)-trisphosphate is shown compared to wild type cells
Inactivation of the mymA operon causes altered cell wall structure, reduced contents and altered composition of mycolic acids along with the accumulation of saturated C24 and C26 fatty acids, and enhanced susceptibility to antibiotics, detergents and acidic pH. Also impairs ability to survive in macrophages
Leads to a defect in vacuolar acidification and higher sensitivity to oxidants such as H(2)O(2) or menadione. Reduces strongly virulence in mice
Growth defects, dwarf plants with small, humped cotyledons and leaves. Development arrested at the vegetative stage without production of reproductive organs
Morpholino knockdown of the protein causes short bodies, bent tails, and reduced tail birefringence, consistent with abnormal skeletal muscle organization, in fish larvae, 3 days after fertilization. Larvae exhibit reduced trunk size, that generate less force than that of wild-type counterparts, and aberrant accumulation of alpha-actinin. Mutant embryos show abnormal motor function, with reduced spontaneous coiling and diminished touch-evoked escape responses
Cells lacking this gene are unable to produce the tetracycline intermediate anhydrotetracycline (ATC)
100-fold decrease in homologous recombination efficiency
Affects the localization of MltA, MipA and PBP2. In the case of MltA and MipA no polar localization is observed, and in that of PBP2 the banded localization pattern is lost. Depletion of both MreC and RodA results in defects in stalk growth and mutant cells expand relative to wild-type cells. They appear to arrest in expansion along the long axis of the cell
Strong reduction in root hair number and density in seedlings (PubMed:17556585). The double mutant seedlings rhd6-3 and rsl1-1 do not develop root hairs (PubMed:17556585)
Cells show an approximately 2.5-fold increase in the number of pstO cells and the size of the pstO domain and a concomitant decrease in prespore cells and the size of the prespore domain
No obvious phenotype (PubMed:22042574). Simultaneous RNAi-mediated knockdown of gsp-3 and gsp-4 results in male sterility due to chromosome segregation defects during sperm meiosis (PubMed:16943775). gsp-3 and gsp-4 double mutant hermaphrodites have egg laying defects and no viable progeny. gsp-3, gsp-4 and him-8 triple mutants have incomplete separation of sister chromatids during the second meiotic segregation. Mislocalization of MSP in activated sperm. In addition, have partial reduction in mpk-1 phosphorylation and air-2 association with bivalent chromosomes in the most proximal oocyte in response to MSP (PubMed:22042574)
Altered brassinosteroids response phenotypes (PubMed:19170933). Hypersensitivity to ABA during germination and seedling growth (PubMed:22814374)
Malformation of photoreceptor synapses, followed by photoreceptor degeneration
Lethality by 3 weeks of age. Mice exhibit abnormal development of renal, hepatic, and pancreatic epithelial tubule structures. Mice show abnormal epithelial cell proliferation and cyst formation. Moreover, they exhibit photoreceptor degeneration as early as postnatal day 14
No visible phenotype. Double knockout with cnnm-1 results in increased levels of intestinal Mg(2+) and reduced levels in other tissues. This Mg(2+) deficiency in tissues leads to a reduced lifespan, 100% sterility, and smaller animals that exhibit a developmental delay with defective gonad development and which therefore do not produce oocytes or form vulva. In addition, the gonad development defect in the cnnm-1 and cnnm-3 double knockout is rescued when the AMPK alpha subunit aak-2 is also knocked out. Double knockout with cnnm-2 results in 22% sterility. Quintuple knockout with cnnm-1, cnnm-2, cnnm-4 and cnnm-5 results in a reduced lifespan and 100% sterility
Cells lacking this gene are highly sensitive to oxidative, thermal, UV, and pH stresses, but only slightly sensitive to salt stress and insensitive to cold stress (PubMed:17933887). They display increased protein glycation levels, and decreased viability in methylglyoxal- or glucose-containing media (PubMed:26774339). They also show highly increased DNA and RNA glycation levels, and exhibit strong mutator phenotypes (PubMed:28596309). Moreover, the double and triple mutants lacking yhbO and yajL, and yhbO, yajL and hchA, respectively, display impressive amounts of glycated proteins, suggesting that the YhbO, YajL and Hsp31 deglycases display relatively redundant functions (PubMed:26774339). The triple mutant displays higher glycation levels of free nucleotides (GTP and dGTP) than the parental strain, and shows higher glycation levels of DNA and RNA than those of single mutants (PubMed:28596309)
Leads to the retention of non-palmitoylated CHS3 in the endoplasmic reticulum and reduced levels of chitin on the cell wall
Cells lacking this gene lose the ability to produce pyrrolnitrin and accumulate APRN
Leads to the disappearance of penigequinolone, and the accumulation of the styrenyl quinolone precusor as well as the minor metabolites yaequinolone J1 and J2
Not essential it can be deleted
Disrupted mitotic spindle orientation of the ABar blastomere division axis, orientating parallel rather than orthogonally to the division axis of AB derived cells ABpr and ABal (PubMed:25344071). Reduced mig-5 accumulation at the cell contact sites between the ABar and C blastomere cells (PubMed:25344071). Irregular positioning of the AQR and PQR neurons in larva at the L4 stage (PubMed:26022293)
Leads to defective cell separation and impairs hyphal growth
RNAi-mediated knockdown by injection into adults causes almost half of their progeny to terminally arrest at the larval L1 stage and the rest developed into fertile adults (PubMed:11044397). Simultaneous knockdown of forkhead gene pes-1 causes 8% embryonic lethality and 80% of progeny to arrest at larval L1 stage (PubMed:11044397)
No visible phenotype. Mice are born at the expected Mendelian rate, are viable and fertile. Mutant mice display an increased number of T-cells in the peripheral blood, but only a minor increase of the number of T-cells in spleen and thymus. T-cells from mutant mice show increased proliferative responses to antigens and produce higher levels of IL4, IL5, IL10, IL13 and IFNG. Mutant mice have normal serum levels of IgG and IgM in the absence of antigen, but produce higher levels of IgG, IgM and IgM in response to antigens. Likewise, B-cells from mutant mice display increased proliferation and decreased apoptosis in response to antigens. Mutant mice show increased levels of mature oligodendrocytes, decreased levels of apoptotic oligodendrocytes and increased myelination. Mutant mice are not susceptible to neuronal apoptosis triggered by exposure to amyloid peptides derived from APP
Mice are no overt anatomical or behavioral phenotype but display a mild metabolic phenotype. Upon fasting those mice exhibit a significant decrease in blood glucose and triacylglycerol compared to wild-type mice
No visible phenotype under normal growth conditions, but mutant plants grown with exogenous high concentrations of D-proline show reduced inhibition of root growth
2-fold higher levels of alpha-ketosuccinamate and 3-fold higher levels of alpha-hydroxysuccinamate
No visible phenotype, but lacks lutein and accumulates high levels of zeinoxanthin and beta-xanthophylls. Triple mutant cyp97c1, bch1 and bch2 is paler and smaller than wild-type
Impairs the expression of the galactose oxidase gene which abolishes galactose utilization and causes poor growth on xylose, arabinose and sucrose (PubMed:28132080). Impairs severely the ability to cause sudden death syndrome (SDS) on challenged soybean plants through preventing to colonize the xylem vessels and phloem tissue during infection (PubMed:28132080)
Deletion mutant mice show an increase in serum triglycerides under a high fat diet, suggesting a role in extrahepatic triglyceride uptake (PubMed:11108739). In addition, these mice show a reduced high fat diet-induced inflammation and endoplasmic reticulum (ER) stress in adipose tissue in conjunction with reduced macrophage infiltration (PubMed:24293365)
Plants are female fertile, but male sterile as they are not able to produce tetrads and microspores. No differences compared to the wild-type plant during the vegetative stage. Plants develop normal panicles and floral organs, except for smaller and pale-yellow anthers that fail to produce viable pollen grains. No effect on the differentiation or early mitotic division of germ cells. No meiocytes are detected in 4.5 mm and 5.0 mm long flowers, but in 3.0 mm flowers meiosis appears to initiate normally. At leptotene stage of meiotic prophase I, chromosomes appear normal in male meiocytes and cohesion of sister chromatids is not affected. However, subsequent stages of prohase I are severely impaired. Meiocytes display disrupted telomere bouquet formation, impaired pairing and synapsis of homologous chromosomes, and arrested meiocytes at late prophase I, followed by apoptosis. The transverse filament protein ZEP1, an essential synaptonemal complex (SC)-related protein, is not detected. Although normal, programmed DNA double-strand breaks (DSBs) form, foci of the phosphorylated histone gamma H2AX, a marker for DSBs, persist indicating that many of the DSBs remain unrepaired. The recruitment of COM1 and RAD51C to DSBs is severely compromised in meiocytes indicating that normally formed DSB ends are not processed and repaired
Impaired phosphate (Pi) starvation induction of lateral roots formation (PubMed:26476189). Plants missing PT4 or both PT4 and PT8 fail to establish arbuscular mycorrhizal (AM) symbiosis with AM fungi in high nitrogen conditions, leading to premature arbuscule degeneration (PAD); these phenotypes are suppressed in nitrogen-deprived conditions in an AMT2-3-dependent manner (PubMed:25841038)
Mutant does not secrete EsxN and PE_PGRS proteins, and has reduced levels of EccB5, EccD5 and EccE5
Affects sporulation and reduces the expression of the DHN-melanin gene cluster
Loss of production of ergothioneine (ERG), no alteration in ratio of oxidized versus reduced mycothiol (MSH), decreased resistance to compounds that cause oxidative stress, decreased resistance to the antibitoics rifampicin, isoniazid, bedaquiline and clofazimine (PubMed:26774486). Absence leads to alteration of transcript levels for 74 genes which probably compensate for loss of redox control (PubMed:26774486). Decreased bacterial survival in mouse macrophage cell line, 4-fold decreased bacterial burden in infected mice lungs (strain BALB/c), no alteration in mouse lung ERG levels (PubMed:26774486)
Disruption of the gene delays (GlcNAc)2 consumption, but does not affect GlcNAc consumption ability. Deletion reduces the level of chitinase activity induced in the presence of (GlcNAc)2
Deletion of the gene leads to virulence attenuation in macrophages and mice
Animals show a glycogenopathy resembling to Von Gierke's disease with impaired growth, fasting hypoglycemia, and an increase in concentrations of triglycerides, cholesterol, free fatty acids, ketone bodies, uric acid and lactic acid in the plasma during fating. They also have increased liver glycogen stores and hepatic steatosis
No visible phenotype. Mice were born at expected Mendelian ratio with no gross abnormalities
Leads to the loss of the green conidial pigment and decreased viability of conidia (PubMed:21195204). Impairs virulence in both insect and murine infection models (PubMed:28720735)
Mutants are more resistant to DNA damage, but recover more slowly than the wild-type
Altered silique morphology and reduced seed set
Alteration (reduction or loss for the most part) of expression of about 60 genes that are high-pH-inducible, including sigW and its anti-sigma factor rsiW (PubMed:11454200)
Disruption of pks1 abolishes the production of phthiocerol dimycocerosate (DIM) on the cell envelope, but the production of mycocerosic acid is not deficient. The pks10 mutants show a major attenuation of virulence
Decreases the production of ustiloxin B (PubMed:24841822, PubMed:26703898)
Partial suppression of the pleiotropic phenotypes conferred by the dominant mutation zed1-D (e.g. high-temperature-dependent growth retardation and autoimmunity)
Leads to virulence defects
Disruption of this gene attenuates M.tuberculosis growth and survival in untreated mice
Morpholino knockdown of the protein causes growth retardation, as evidenced by small fins, abnormal morphogenesis of the tail, and loss of heartbeat. Pericardial effusion was evident in 5-day-old morphant larvae
Morpholino knockdown results in attenuated Hedgehog (Hh) transcriptional responses and impaired early muscle development (PubMed:21659505). Morphants exhibit developmental abnormalities, abnormal ear development and defective cilia motility (PubMed:19043402)
Mice were born alive, but display a variable degree of dwarfism and hypotonia with decreased motility, hampering their feeding (PubMed:12915479). Perinatal lethality is frequent, although some mice survive beyond 18 months (PubMed:12915479). In the intermediate zone of the developing cerebral cortex, increased neuronal density is observed (PubMed:12915479). Increased neuronal density is caused by defects in neuronal migration (PubMed:12915479). Mice also show defects in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae (PubMed:12915479). Cells display normal peroxisome assembly, but show impaired peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:12915479). Biochemically, cells show severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid and impaired beta-oxidation of very-long-chain fatty acids (PubMed:12915479)
Male sterility due to pollen abortion after meiosis
Abolition of succinate-induced hypertension
No visible phenotype under normal growth conditions, but mutant embryos exhibit higher levels of iron and zinc, and leaf blades of mutant plants show decreased levels of iron and zinc
RNAi-mediated knockdown significantly reduces protein levels of ATP-dependent chaperones cdc-48.1 and cdc-48.2 in embryos
Reduced photosynthetic activity and retarded growth. Increased number and decreased size of chloroplasts. Loss of autotrophic growth. Pale cotyledons when grown on sucrose-complemented medium
Worms exhibit abnormal muscle morphology, egg laying defects and constipation
No obvious phenotype, except complete male sterility (PubMed:24362311, PubMed:24849454). Female fertility is not altered (PubMed:24849454)
Embryos are present at the expected Mendelian ratio, but half of the mice die before adolescence, due to defects in prenatal and perinatal lung development. In the 15.5 dpc embryo, lungs are smaller, have a less complex structure than normal, and present fewer blood vessels. Lungs in newborns present abnormal patterns of cell proliferation and apoptosis. Adults develop chronic obstructive pulmonary disease (COPD). Mice present epidermal hyperplasia with thickening and flaking skin and ulcerations on tail and footpads. Papillomas develop at sites of wounding. Mice are highly susceptible to chemical carcinogens and develop melanomas and/or papillomas after application of a carcinogen. They have a high incidence of spontaneous hyperplastic and neoplastic lesions, such as adenocarcinomas or squamous cell carcinomas. They present bone and cartilage hyperplasia, leading to fixed joints. Mice have altered response to progesterone in the uterus, resulting in endometrial epithelial hyperplasia and complete loss of fertility. Mice have a shortened life span and die prematurely at an age of five to seven months
Cells lacking this gene accumulate the pseudoaglycone (PSA) containing tri-O-methyl rhamnose, but lacking the dimethylamino sugar forosamine
Increase in average life-span and enhanced resistance to various forms of stress, including starvation, high temperature and dietary paraquat, a free-radical generator
RNAi-mediated knockdown in neurons reduces life span of adult flies and results in locomotor defects at both larval and adult stages accompanied by abnormal morphology of motor neuron terminals at neuromuscular junctions and mitochondrial fragmentation in brains (PubMed:29501567). RNAi-mediated knockdown in eye disks induces morphologically aberrant rough eye phenotype in adults and aberrant photoreceptor axon targeting (PubMed:29501567)
Exhibits slight hypersensitivity to abscisic acid (ABA), salt and osmotic stress
RNAi-mediated knockdown suppresses the memory retention defects of the msi-1 os1 loss of function mutant
Mutants are viable but develop slowly. They accumulate enlarged lysosomes and show an impaired lysosomal degradation of phagocytic, endocytic, and autophagic cargos
A slight increase in motility. No visible effect on curli production
Morpholino knockdown of the protein causes significant inhibition of angiogenesis
Deficits in simulated flight behavior with fewer or shorter duration of wing beats in tethered flies (PubMed:30110323). Dopaminergic neuron-specific knockout leads to shorter flight duration (PubMed:30110323). RNAi-mediated knockdown, either in adults or during pupal development, results in similar deficits in simulated flight behavior, whereas knockdown during larval development has no effect on flight behavior in the adult (PubMed:30110323). Pan-neuronal or dopaminergic neuron-specific RNAi-mediated knockdown leads to significantly shorter flight bouts (PubMed:30110323)
Decreased prostaglandin (PG) production in triple ppoA/ppoB/ppoC mutants. The triple mutant is hypervirulent in the invasive pulmonary aspergillosis murine model system and shows increased tolerance to hydrogen peroxide stress
(Microbial infection) After infection with E.chaffeensis, results in reduced bacterial replication rate and increased survival
No visible phenotype when deleted singly or as the relBE4 operon
In the presence of wild-type relA, spoT cannot be deleted because ppGpp accumulation is toxic. In the double relA/spoT deletion (a ppGpp0 mutant) there is a very large increase in biofilm formation (in a csrA-disrupted background) (PubMed:19460094). The ppGpp0 mutant makes decreased levels of CsrA and its inhibitory small RNAs (sRNA) CsrB and CsrC (PubMed:21488981). The double relA/spoT deletion obviates persister cell formation in a hipA7 mutant (PubMed:14622409, PubMed:26051177)
Chemotaxis is substantially impaired, with a 30-fold reduction in the efficiency of chemotaxis with aspartate and 11-fold reduction with 2-deoxyglucose. Inactivation of cheW appears to have a subtle effect on chemotactic behavior in the absence of chemoeffectors: the bacteria display a smooth swimming bias, with some tumbling. A double mutant lacking both CheV and CheW has a strong tumble bias, does not respond to addition of attractant, shows essentially no accumulation in capillary assays, and has greatly reduced methyl turnover on the methyl-accepting chemotaxis proteins (MCPs)
Adult males infected with spores from F.oxysporum or F.verticillioides display reduced survival
Impaired chloroplastic NAD(P)H dehydrogenase (NDH) activity leading to the loss of post-illumination increases in Chl fluorescence, probably due to a reduced stability of the NDH complex
Cells lacking this gene fail to grow on galactose as sole carbon source
Impairs the production of T-2 toxin accumulates 2 new trichothecenes, 8-hydroxycalonectrin and 4-deoxy-T-2 toxin (PubMed:12135578)
RNAi-mediated knockdown in a bet-1 mutant background prevents the formation of extra distal tip cells (DTC) during gonad development
Inhibits GCN4 derepression in amino acid or purine-starved cells (PubMed:10733573). Attenuates GCN4 derepression in glucose-starved cells (PubMed:10733573)
Reduced body size and an egg-laying constitutive phenotype
Reduced RHOA activity, reduced endothelial cell proliferation and migration, reduced endothelial cell tube formation and reduced angiogenesis
RNAi-mediated knockdown does not cause any visible phenotype. Simultaneous RNAi-mediated knockdown of ubxn-2 and ubxn-3, causes 50 percent embryonic lethality. The surviving hermaphrodite progeny are sterile due to a lack of sperm. Abnormal accumulation of sex determination terminal factor tra-1. Germline development is normal. In males, sperm production is normal
No visible phenotype in wild-type background, but restores stomata to hypocotyls in a tmm background. Chal and cll2 double mutants are defective in growth, with a short stature, shortened pedicells and compact inflorescence
Shorter roots
Interaction of substrate with HRD1 is reduced; in YOS9 and USA1 double mutants this interaction is completely abolished. Interaction of substrate (either glycosylated or non-glycosylated) with HRD3 is not affected
Temperature sensitive with partial embryonic lethality at 25 degrees Celsius (PubMed:24595290). Inhibited degradation of maternal membrane proteins, cav-1, chs-1 and rme-2, and ubiquitination of cav-1 with accumulation of these proteins on the maternal plasma membrane and endosome-like vesicles in later-stage embryos (PubMed:24595290). Locomotion defect with animals displaying increased body flexing (PubMed:21179194). Mis-localized glr-1-containing glutamate receptor with increased glr-1 accumulation in the ventral nerve cord (PubMed:21179194). Reduced and irregular snb-1 accumulation at neuromuscular junctions (PubMed:21179194). RNAi-mediated knockdown prevents localization of ubiquitin and proteasomes to polyglutamine protein aggregates (PubMed:17663792). Reduced size of polyglutamine protein aggregates (PubMed:17663792). Inhibited degradation of the maternal membrane protein, cav-1 in embryos (PubMed:24595290)
Decreased virulence in male BALB/c mice; mutant cells are able to colonize mouse tissues and persist for several weeks, but are about 10(5)-fold less lethal. The deletion is probably polar on downstream envZ
Disruption of the gene abolishes growth on cellobiose and lactose
Smaller and albinotic phenotype. Increased number and decreased size of chloroplasts. Seedling lethal when homozygous
Embryonic lethality associated with a terminal aneuploid phenotype: embryos display severe defects in nuclear envelope formation, accumulating nucleoporins and lamin in the cytoplasm (PubMed:12221121). Worms lacking both akir-1 and ima-2 show reduced gonad size and aberrant diakinesis oocyte formation; defects are caused by impaired meiotic recombination (PubMed:30563860)
In plants missing HDG3, HDG7, HDG11, PDF2 and ATML1, increased cell division leading to cell overproliferation
Fixes nitrogen very poorly; has very slow diazotrophic growth on nitrogen-free agar plates. A double nifS-nifV deletion no longer fixes nitrogen
RNAi-mediated knockdown results in a decrease in protein synthesis and an increase in the expression of gpdh-1 independent of hypertonic stress
Bacteria no longer translocate from the phagolysosome to the cytosol of host (human) cells; bacteria replicate only in host phagolysosome rather than cytoplasm, decreased apoptosis of infected host (human) dendritic cells (PubMed:17604718). Bacteria missing the RD1 locus do not gain access to host (human) cytoplasm; complementation with the RD1 locus restores access, but if EsxA is missing the last 12 residues cytoplasmic access is not restored although truncated EsxA is secreted by bacteria (PubMed:22319448). Loss of ability to lyse host (human) lung epithelial cells, possibly due to polar effects from the upstream esxB gene; in BALB/c-infected mice bacteria are not as invasive and cause decreased lung disease (PubMed:14557547). No growth in the human macrophage-like cell line THP-1, no cytotoxicity (PubMed:14756778). Severely attenutated infection in mice, nearly 1000-fold less bacteria in lung and spleen of C57BL/6 (PubMed:14557536, PubMed:14756778). Inactivation leads to absence of EsxA and EsxB from cell lysates (PubMed:14756778, PubMed:16368961). No secretion of EspA (PubMed:16030141). No longer decreases expression of IL-12 p40 and TNF-alpha by infected murine macrophages, while the nitric oxide response is only partially reduced (PubMed:14557536). Significantly decreased production of IL-1 beta (IL1B), decreased activation of host (human) CASP-1 in response to bacterial infection (PubMed:20148899). Mitochondrial morphology is no longer perturbed in human alveolar epithelial cell line A549 (PubMed:26092385)
Early flowering and shorter vegetative and reproductive phases, with more branched roots and inflorescences. Early senescence. Enhanced susceptibility to salt stress. Hypersensitivity to light
Mice are viable, but males are sterile, producing only a few sperm that are morphologically abnormal. Spermatogenesis is dramatically impaired at the stage of elongation and condensation. Spermatozoa exhibit failure of flagellar formation, disorganization of sperm axonemes and deformed heads
Pale green phenotype
Impaired in the high-affinity nitrate transport. Reduced growth on low-nitrate media. Reduced nitrate uptake and increased lateral root initiation
Eggs are retained in the body as normal during starvation but the number of eggs laid during the initial refeeding period is reduced and satiety-induced suppression of pharyngeal pumping is slower than wild-type (PubMed:28847365). Suppression of serotonin-induced body fat loss (PubMed:28128367)
Mice are viable and fertile, with normal growth and no obvious abnormalities. They show normal B-cell development and peripheral B-cell functions, but have mildly altered thymic development probably due to enhanced TCR signaling. This results in a greater susceptibility to autoimmune diseases
Embryonic lethal, results in the aberrant expression of the homeobox genes ftz, eve and en in a subset of neuroblasts, and in axonal outgrowth and pathfinding defects in both motoneurons and sensory neurons
Impairs growth on beta-alanine but can still utilize pantothenic acid
Hypersensitive to abscisic acid (ABA) and ethylene (ACC) in roots. Reduced stomatal closure in response to H(2)O(2), bacterial pathogen associated molecular pattern (PAMP) flagellin, Pseudomonas syringae, darkness, nitric oxide and ethylene, but normal closure in response to ABA and the peptide elf. Increased sensitivity to pathogens and increased tolerance to high salinity
Strongly reduced growth. Pale-green cotyledons and leaves
Increases resistance to lactic acid
Mutation results in complete impairment of cell growth in the presence of cinnamaldehyde
Deletion mutant is unable to transport succinate, and does not grow on D-malate, L-malate, succinate or fumarate as the sole carbon source under aerobic conditions in the dark
Strong reduction in seed phytic acid with a molar equivalent increase in inorganic phosphate
Lowered rate of infection of HeLa cells. Bacteria are seriously impaired in their ability to spread from host cell to host cell
In xth27-1 and xth27-2, short-shaped tracheary elements in tertiary veins, reduced number of tertiary veins in the first leaf, and yellow lesion-mimic spots in mature rosette leaves
Mice exhibit early embryonic lethality (PubMed:25773599, PubMed:19340312). Knockdown in embryonic stem cells (ESCs) leads to proliferation defects, increased differentiation, increased expression of development-associated genes and the dysregulation of genes involved in signaling and metabolic pathways (PubMed:25773599, PubMed:19340312). Mice exhibit cardiomyopathy, impaired response to cardiac stress and the reduced expression of metabolism-related genes in cardiomyocytes (PubMed:24656816)
No visible phenotype under normal growth conditions, but roots of mutant plants, are impaired in the interaction with rhizobia, and in infection thread (IT) initiation and maintenance
Worms are viable but display axonal and cellular guidance defects in specific neuron classes
Cannot use, as a sole carbon and/or energy source, a wide variety of hexoses and intermediates of hexose catabolism
No visible phenotype and normal sensitivity to pathogens, but higher expression of pathogenesis related genes PR-1 and PR-2 in Atpam16l. The double mutant Atpam16-1 Atpam16l is lethal
Disruption of the gene leads to cells that are curved, bent at irregular angles and affected in length and width
Mutant mice are born at the expected Mendelian rate, appear healthy and are fertile. They have initially a complete set of photoreceptor cells in the retina, but the photoreceptor cells present defects in the outer segments indicative of cell death, and loss of photoreceptor cells is almost complete after three months
Mice are viable, fertile and show no gross morphological or behavioral defects. However, topographic targeting errors of nasal and temporal retinal axons appear during development of the retinocollicular projections in the visual system. 10 percent of the embryos also display exencephalic overgrowth of forebrain tissues which might be the result of reduced apoptosis
Exhibits abscisic acid (ABA) insensitivity
Mice display impaired hemostasis, resulting in a reduced risk of thrombosis and thromboembolism, although the ultrastructure of the platelets is not affected (PubMed:14697203). Blood platelet counts are normal (PubMed:14697203). Defects are caused by inability to inability to mediate protein serotonylation of small GTPases during activation and aggregation of platelets (PubMed:14697203)
Abolishes the presence of alkanes
Knockout in a spontaneously hypertensive rat model results in decreased blood pressure and vascular reactivity to N-omega-Nitro-L-arginine methyl ester hydrochloride (PubMed:31327268). Increased renal and serum endothelial nitric oxide synthase and serum nitrate levels (PubMed:31327268). Reduced fasting plasma glucose concentrations and a 23% decrease in visceral and brown adipose tissue relative mass, resulting from a decrease in adipocyte number (PubMed:31327268)
Homozygous knockout mice are viable and do not show overt phenotype (PubMed:29429998). Composition and number of major immune cells is normal but mice are more susceptible to DNA-virus infection and death than their wild-type counterpart (PubMed:29429998)
RNAi-mediated knockdown abolishes expression of acdh-1 when diet is supplemented with 5 nM vitamin B12 and high levels (40 mM) of propionate (PubMed:30625328). RNAi-mediated knockdown reduces expression of nhr-68 (PubMed:30625328)
Infertility due to defects in meiosis. Mice develop normally and show no visible phenotype but are completely infertile (both males and females) due to defects in meiotic chromosome segregation during meiosis I. Monooriented kinetochores split prematurely and sister chromosomes separate entirely before anaphase of meiosis II
Does not affect the production of the naphthoquinones derived pigments
Enlarged thyroid follicles, reduced extension of the thyroid epithelium, and slight increase in the levels of Tg/thyroglobulin in the thyroid follicles. Loss of localization of CTSB/cathepsin B and L to the apical membrane of thyroid epithelial cells. Serum levels of thyroid hormone thyroxine (T4) are normal. However, reduction in T4 levels is more severe in CTSK and CTSL double knockout mice compared to CTSL double knockout mice
Morpholino tmem163b knockdown severely affects central nervous system development. Morphant larvae display locomotor disability, decreased survival, and myelin deficits associated with a reduced number of oligodendrocytes
Significant decrease in T3SS induction
Reduces slightly growth rate on L-arabinose and abolishes L-xylulose reductase activity
Null cells produce tiny macrocysts and have increased numbers of peripheral cells during sexual development. Macrocyst formation by null cells is much less sensitive to the addition of exogenous cAMP compared to wild-type. The mRNA level of phosphodiesterase (pdsA) is higher and that of its inhibitor (pdiA) is lower in the null cells compared to wild-type during sexual development. The expression of regA, which regulates the intercellular cAMP signaling pathway is not affected. Null cells show less extensive cell aggregation toward the zygote giant cells and many cells remain around poorly formed macrocysts. The expression of the carA is unchanged or slightly higher in the null cells, while that of the carC is much reduced. Chemotaxis toward cAMP during asexual development is indistinguishable between the wild-type and null cells
Myeloid-cell-specific BMAL1 and PKM2 double knockout reduces the risk of sepsis lethality which is associated with reduced serum lactate levels and reduced CD274 expression in macrophages
Abhd6 partial knockdown inducing a stronger depletion in liver, kidney and white adipose tissues protects mice against hight-fat diet-induced metabolic disorder and obesity. De novo lipogenesis in liver is reduced and associated with a reduced expression of lipogenic genes. Accumulation of phospholipids and lysophospholipds in the liver is also observed
Loss of adenine glycosylase activity. No overall significant change in the mutation rate; an increase in C to A and A to C mutations (with a reduction in other mutations) is seen after rifampicin treatment. No change in susceptibility to H(2)O(2)
Male gametophytic lethal due to defect in pollen germination and pollen tube growth
PICALM-deficient mice suffer from severe anemia due to ineffective erythropoiesis in the bone marrow. In addition, they exhibit impaired clathrin-mediated internalization of transferrin leading to iron metabolism abnormalities
The double mutant atmorc4 atmorc7 exhibits a pathogen response phenotype with abnormal up-regulation of several genes involved in plant defense
Under high nitrate concentration, seedlings are slightly smaller and display later flowering than wild-type. Under low nitrate concentration, seedlings appear normal. Nitrate accumulation of the seedlings and roots is significantly lower than in wild-type, however no difference of nitrate accumulation in leaves. Nitrate content differences in roots and leaves may be due to the reduced expression of NPF6.3/NRT1.1 in roots and the increased expression of NPF7.2/NRT1.8 in leaves. After nitrate treatment, altered expression of many genes involved in nitrogen-related clusters including nitrate transport and response to nitrate
Morpholino knockdown of the protein causes erythroid abnormality and global defects in respiratory-chain activity. Morphant embryos exhibit erythrocytes with enlarged nuclei containing open chromatin, consistent with maturation arrest. The nuclear/cytoplasmic ratio is increased nearly 3-fold. Anemia cannot be rescued neither by exogenous folate or vitamin B12 supplementation, nor by N-acetylcysteine treatment
The mutants mi34 that do not express the protein exhibit altered motor behavior most probably due to a defect in the coupling between the electrophysiological activation and the muscular response. The nervous system, the neuromuscular junction or the skeletal muscles seem normal
Knockout mice are generally normal and viable (PubMed:19365570). Retinal white circular lesions in anterior chamber derived from the lens cortex (PubMed:19365570). Retinal lens is partially opaque and irregular in structure, with rupture leading to cortical lens fragments floating in the aqueous humor (PubMed:19365570). Abnormally deep anterior chamber with anterior synechiae, ectropion uveae, mild to moderate retinal ganglion loss, and a small pigmented pre-retinal membrane overlying the optic nerve (PubMed:19365570). Reduced phosphorylation of AKT1 and BCAR1 in lens epithelial cells (PubMed:19365570). Retinal lens abnormalities develop progressively postnatally; at postnatal day 3 (P3) there is anterior lens vacuolization and liquefaction of lens cortical fibers (PubMed:19365570). At P24 there is evidence of extensive lens cortex vacuolation and early lens extrusion, progressing to extrusion of lens cortical material at P33 (PubMed:19365570)
Impairs the production of acetylaranotin and accumulates chemically stable intermediates or shunt products such as haematocin B, haematocin, terrespirodione A and terrespirodione B (PubMed:23586797, PubMed:30096370). Leads also to the accumulation of deacetylhaematocin and demethyl-deacetylhaematocin when ataS and ataH are also deleted (PubMed:30096370)
Mice display impairment of the intercellular junction-dependent barrier function in the skin (PubMed:20413591). Increased energy expenditure and improved insulin sensitivity in white adipose tissues (PubMed:23021218). Reduced Ca2+ entry and loss of regulatory volume decrease in response to hypotonicity in acinar cells (PubMed:16571723)
Mutant is severely attenuated in virulence. Disruption prevents SpvB-induced F-actin depolymerization in human macrophages without affecting intra-bacterial SpvB protein levels
Deletion of icl2 has a little effect on replication in media containing glycerol, glucose, short-chain fatty acids or long-chain fatty acids. Cells lacking icl2 have no discernible impact on the kinetics of M.tuberculosis growth and persistence. However deletion of both icl1 and icl2 eliminates growth on fatty acids but has little effect on use of carbohydrates. Cells lacking both genes are incapable of growth in mice and are rapidly eliminated from the lungs and spleen
Knockdown in brown adipose tissue attenuates whole-body thermogenic responses upon exposure to cold. Brown adipocytes show decreased glycerol-3-phosphate levels in mitochondria
Slow growth in aerobic liquid culture, forms mixed colonies on aerobic solid media, increased sensitivity to reductant (beta-mercapoethanol). Reduced cytochrome bd-I oxidase activity
Cells lacking this gene show alteration of TtuB conjugation to TtuC and TtuA and about 50% decrease in 5-methyl-2-thiouridine (m(5)s(2)U or s(2)T) amounts in tRNA
Cells lacking this gene are not able to grow on 4-NP
Has a moderate sporulation defect
Knockout mice die soon after birth, apparently because of their inability to breathe
Knockout mice exhibit early embryonic lethality by 11.5 dpc. Conditional ubiquitous or kidney-specific knockdown results in polycystic liver and kidney phenotypes, respectively
Fishes display cysts in the glomerular-tubular region of the kidney similar to cystic kidney disease. Knockdown of the gene with 2 morpholino oligonucleotides leads to ventral body-axis curvature, formation of kidney cysts, otolith defects, and hydrocephalus, as well as cartilage defects of the craniofacial skeleton. Knockdown of the gene in a rhodopsin-GFP transgenic line demonstrates that the level of rhodopsin-GFP is lower in ift172 morphants than controls, suggesting retinal degeneration. Scanning electron microscopy of the olfactory placode reveales ciliogenesis defects in morphants, including shortened and truncated cilia
Mice with a conditional knockout in cortical neurons exhibit an increased density of dendritic spines with an immature morphology
Knockouts are born indistinguishable from littermates but failed to thrive, demonstrating progressive motor dysfunction and overt motor weakness, and they die an average of 14-18 days after birth. They have agenesis of the corpus callosum, and axonal outgrowth defects specific to ventral motoneuron axons and efferent innervation of the cochlea (PubMed:27223325). Conditional knockouts in excitatory neurons die between three and four weeks old and show disorganized cortical and hippocampal CA1 and CA3 laminar structure. Conditional knockouts in inhibitory neurons show no neuronal migration or position abnormality. They display reduced thickness of CA1 stratum lacunosum-moleculare (SLM) and dentate gyrus molecular layer (PubMed:30638744). Conditional knockouts in Purkinje cells have progressive motor discoordination and cerebellar atrophy. They show a marked defect in dendritic morphology, Purkinje cells degeneration, loss of synaptic layer thickness accompanied by neuritic swelling and reduced spine density (PubMed:30638744)
Absence of TRIM29 enhances macrophage production of type I interferons and protects mice from infection with influenza virus
Cells grow slightly less well than wild-type in the presence of 2.5 M NaCl. Inactivation of both isaA and sceD genes results in a high degree of clumping and the double mutant is also attenuated for virulence
Animals show disrupted circadian behavior. The prolongation of light exposure produces larger phase delay of behavioral rhythm compared to wild-types. Double knocknouts for PER2 and PER1 show an abrupt loss of rhythmicity immediately upon transfer to exprosure to constant darkness. Animals have largely affected the water intake (polydipsia) and urine volume (polyuria)
No visible phenotype when deleted singly or as the parDE4 operon
Worms have an extended lifespan phenotype and are defective in dauer formation
Plants are embryo lethal when homozygous (PubMed:16243907). Retarded root growth. Abnormal gene expression reprogramming during dedifferentiation in root-derived protoplasts (PubMed:25086063). Reduced fertility leading to less seeds production. Reduced histone H3 levels and decreases nucleosome occupancy at both actively transcribed genes and heterochromatic regions (PubMed:25600486)
RNAi-mediated knockdown results in ectopic expression of the homeobox protein egl-5 in the head region (PubMed:17574230). This ectopic expression of egl-5 in the head region is enhanced in a nfya-1 bp4 mutant background (PubMed:17574230)
The morphants contained multiple phenotypic defects, beginning with a downward-curled tail at 2 dpf. Additional ciliary defects after 3 dpf included small eyes, pericardial edema and hydrocephalus. These defects became more severe, leading to abdominal fluid accumulation, as well as abnormal pronephric kidneys at 5 dpf
Results in the loss of zearalenone production but still produces beta-zearalenonol (PubMed:16262793, PubMed:16517624)
Lethality during larval stages. Maternal mutants show a variety of defects in epithelial integrity, including stochastic loss of shg/DE-cadherin expression, as well as defects in cell specification and cell migration
Increases sensitivity to copper
Mice are born at the expected Mendelian rate and are healthy, fertile and physiologically normal (PubMed:27147518). Embryonic stem cells (ESCs) exhibit normal colony morphology and cell proliferation rates and maintain normal expression of pluripotent genes (PubMed:27147518)
A deletion of comP completely abolishes natural transformation, due to a complete lack of DNA binding and, therefore, uptake of DNA, but has no effect on piliation and on twitching motility
Deletion mice show renal protection against acute kidney injury (AKI)
Embryonic or perinatal lethality caused profound defects in vascular development (PubMed:12050137). More than half embryos die at midgestation, with evidence of insufficient vascularization of the placenta and yolk sac (PubMed:12050137). Surviving embryos die shortly after birth with extensive intracerebral hemorrhage (PubMed:12050137). Conditional deletion in the neuroepithelium results in bilateral hemorrhage at in neonates caused by endothelial cell abnormalities in the developing cortex (PubMed:16251442)
Mutant multiciliated cells show a severe loss of ODAs from motile cilia
Mice are viable but are sterile due to defects in double-strand break repair during gametogenesis. Testes are apoptotic and contain spermatocytes that have persistent DNA damage and unsynapsed chromosomes due to defective homologous recombinatio. Ovaries are characterized by an early block of follicle development, and they later develop tumors
Mutants require cysteine or sulfite to grow under aerobic conditions
Embryos die prior to implantation due to massive apoptosis resulting in blastocyst involution
No visible phenotype under normal growth conditions (PubMed:20413097). Abrogated kinase activity (PubMed:25522736). In cce5-2 and cce5-4, reduced calcium levels after elicitation with peptides representing bacteria-derived microbe- and damage-associated molecular patterns (MAMPs, flg22 and elf18, and the endogenous DAMP AtPep1), but normal response to chitin octamers. Reduced root growth inhibition response to flg22 (PubMed:25522736). Compromised SCOOP10- and SCOOP12-induced root growth inhibition and reactive oxygen species (ROS) production in the double mutant bik1 pbl1 (PubMed:34535661)
Morpholino-mediated knockdown causes severe craniofacial alterations including small, misshapen head, microphthalmia and loss of the jaw. It is associated with a more or less severe loss of the cartilaginous facial skeleton. Pericardial edema is also detected
RNAi-mediated knockdown reduces infection by West Nile virus (WNV) and Dengue virus type 2 (DENV-2)
Flies exhibit a closed rhabdomere system, rhabdomeres within each ommatidium are fused to each other
Plants exhibit abscisic-acid-deficient phenotypes in seeds, but not in vegetative tissues
S.coelicolor strain A3(2) / MT1110 and A3(2) / 2377 lacking asnO produce non-hydroxylated asparagine-containing CDA variants, which are not synthesized by the wild-types but retain calcium-dependent antimicrobial activity
Knockout mice are born at the expected Mendelian ratio and appear normal with no gross developmental abnormalities. A reduction of body weight is observed in male, but not female, due to increased metabolic rate and energy expenditure. CTRP2 deficiency up-regulates the expression of lipolytic enzymes and protein kinase A signaling, resulting in enhanced adipose tissue lipolysis. Knockout mice also have altered hepatic and plasma lipid profiles. In contrast to lipid metabolism, whole-body glucose metabolism is not affected
Shows behavioral abnormalities, displaying a gender-dependent increase in anxiety levels and a clear motor coordination deficit and a mild hyperactive phenotype. Mice are more sensitive to D2 receptor stimulation and have decreased body weight
Morpholino knockdown of the protein impairs the development of the embryonic heart resulting in abnormal valve formation (PubMed:25326603). Embryos also show poor glycemic control (PubMed:25326603)
Abnormal pavement cell morphogenesis in cotyledons characterized by reduced interdigitation associated with altered microtubules organization and dynamics and reduced rates of cellulose deposition in anticlinal cell walls thus correleted with a reduced anisotropic cell expansion (PubMed:29976837, PubMed:30407556). Hypersensitivity to the microtubule-disrupting drug oryzalin (PubMed:29976837)
Cells lacking this gene display an increased bacteriophage SPP1 resistance phenotype (PubMed:15576783). Loss of delivery of LXG type toxins to target cells (PubMed:34280190)
Mildly decreases methylation of the fifth carbon of cytosine (5mC) in DNA
Morpholino knockdown in embryos exhibits variable outcome. It may result in a weak ventralized phenotype (PubMed:11260716) or in dorsalization (PubMed:15525664, PubMed:15604098)
Cells lacking this gene show a chromosome translocation defect and aberrant compartmentalization of both sigma-F and sigma-E, and fail to complete membrane fusion at the end of engulfment
Results in increased resistance to the chitin synthesis inhibitor nikkomycin Z and causes increased damage to pulmonary epithelial cells and vascular endothelial cells, as well as increased pulmonary epithelial cell cytokine gene expression
Knockout newborn mice display a reduced granulocyte production (PubMed:12010804). Hematopoietic precursor cell from knockout mice display defective colony formation and impaired differentiation to mature granulocytes as stimulated by SCF/KITL and GCSF/CSF3 (PubMed:12010804)
Enhanced lesion development after infiltration of leaf tissue with the programmed cell death (PCD)-eliciting fungal toxin fumonisin B1 (FB1) or the avirulent bacterial pathogen P.syringae pv. tomato DC3000 carrying avrB (Pst avrB). Enhanced resistance to the virulent pathogen E.carotovora subsp. carotovora SCC1
Embryos display primary microcephaly, leading to early lethality (PubMed:29346415, PubMed:28805828). Marked apoptosis is observed in the brain (telencephalon) (PubMed:28805828). Fishes do not show a renal phenotype, possibly as a result of early lethality (PubMed:28805828)
Knockout mice show decreased inflammatory response when exposed to infection or injury, which can lead to lower inflammation-induced mortality
Mutant males are infertile. Spermatozoa are acephalic, the sperm head to tail coupling apparatus is detached from nucleus during spermatid elongation
Lack of seed endosperm, alteration of ovary and embryo shape, reduced root and plant growth, but fertile plants
No visible phenotype under normal growth conditions, but the double mutant plants rlt-1 and rlt2-1 are small and display early flowering
Results in a significant reduction in midbrain size. A wide spectrum of defects in gastrulation and formation of anterior structures are noticed, ranging from milder microcephaly to more severe anencephaly and early embryonic death
Results in centrosome amplification and lethality (PubMed:20230755). Cells become polyploid or undergo apoptosis (PubMed:20230755). Homozygotes died as third instar larvae (PubMed:20230755). RNAi-mediated knockdown in neuronal cells, results in severe mitotic defects in the larval brain and is lethal at the third-instar stage (PubMed:31907206). RNAi-mediated knockdown in the female germline, results in embryos failing to hatch due to various mitotic defects such as abnormal chromosome condensation and adherent spindle formation (PubMed:31907206). However, in contrast to RNAi-mediated knockdown in the brain, embryos do not exhibit centrosome amplification (PubMed:31907206)
Increased number of tillers
Defects lead to embryonic lethality in 6% of population
Abrogation of IL-1-induced activation of NF-kappa-B, MAPK8/JNK and MAPK14/p38. Animals appear normal at birth but become smaller after one week. Show runting, failure of tooth eruption and die after three weeks. Exhibit severe osteopetrosis, thymic atrophy, lymph node deficiency, splenomegaly, and have alopecia and lack sweat glands
Cells lacking this gene are viable only if the medium is supplemented with mevalonate or the cells are complemented with an episomal copy of ispH (PubMed:11418107). A conditional E.coli lytB mutant shows that LytB is essential for survival and that depletion of LytB results in cell lysis (PubMed:11717301)
Accumulation of ADO3 protein during the morning period but no effect on flowering time
Deletion mutant shows a decrease in chlorhexidine resistance
Increased expression of C4H1 and C4H2 (PubMed:21068208). Higher levels of floral volatile benzenoid/phenylpropanoid (FVBP) compounds derived from p-coumaric acid (isoeugenol and eugenol) (PubMed:21068208)
Forms a complete but paralyzed flagellum
Cells are unable to grow in gallate
Impairs the hyphal formation and attenuates the virulence in a mouse systemic candidiasis model and towards reconstituted human esophageal tissue. Leads to extensive flocculation under conditions that stimulate germ-tube formation. Leads also to increased growth-inhibitory and killing effect by human neutrophils (polymorphonuclear leukocytes) and to hypersensitivity to fluconazole and voriconazole
When associated with VHA-a3 disruption, day-length-dependent growth retardation associated with a reduced accumulation and storage of nitrate ions in vacuoles. Increased sensitivity to zinc ions due to a lower zinc ions sequestration in vacuoles. Reduced calcium content. No effect on sensitivity to sodium ions
Mice appear normal by several measures, are fertile, and have a normal life span, but are neutropenic
Abolishes the production of asperipin-2a
Mice display enhanced inflammatory symptoms and lethality following alum-induced peritonitis and LPS-induced endotoxic shock; defects are caused by an increased NLRP3 inflammasome activation
Plants lacking both eIF4E and eIFiso4E are semi-dwarf and exhibit an overall reduction in polyribosome loading
Cells lacking this gene display a 80-fold increase in pdxK expression with respect to wild-type when grown in minimal medium. A much lower but significant 2/3-fold increase of expression is also observed for pdxY and pdxH
Abnormal prospore membrane formation (PubMed:22611022, PubMed:24036347). Abolishes localization of VPS13 to the prospore membrane (PubMed:24036347). Accumulation of vesicles within the prospore membrane lumen and reduction of phosphatidylinositol in the membrane (PubMed:24036347). Abnormal spore wall formation; the first three layers are synthesized but abnormally deposited and the dityrosine layer is missing (PubMed:22611022). Sporulation specific septins are mislocalized (PubMed:22611022)
Does not alter the production of ustiloxin B (PubMed:24841822, PubMed:26703898)
Changed locomotion behavior with mutants displaying decreased reversal frequencies consistent with decreased glutamergic signaling
Mutation does not affect extracellular levels of the sortase substrate YfkN
Acid sensitivity and increased susceptibility to P.syringae infection
Impaired growth on arginine as the nitrogen source
Grows as well as wild-type in mouse C57BL/6 dendritic cells, decreased activation of mouse dendritic cells compared to wild-type bacteria. Increased host expression and secretion of TNF-alpha and to a lesser extent IL-12 compared to wild-type bacteria
Worms exhibit arrested development after embryogenesis. Viable mutants appear lethargic with sporadic jerky movements and absent M3 pharynx motorneuron activity. All mutants are resistant to the acetylcholinesterase inhibitor aldicarb indicating impaired cholinergic transmission
At the L1 larval stage, display defects in the positioning of the ventral nerve cord (VNC) axons characterized by axons of PVQ and PVP neurons, but not of RMEV, HSN and AVK neurons, drifting into the opposite VNC side (axon flip-over) (PubMed:19737747). These defects are not enhanced in a zig-4 (gk34) mutant background or in zig-4 (gk34) dig-1 (ky188), zig-4 (gk34) sax-7 (nj48) or zig-4 (gk34) egl-15 (n484) mutant background (PubMed:19737747). In a zig-1, zig-2, zig-4 or zig-5 or zig-8 mutant background, cell body positioning of ASI and ASH head neurons is normal (PubMed:22829780)
Abnormal endodermal barrier formation in cif2-1. The double mutant cif1-1 cif2-1 is defective in ion homeostasis in the xylem due to defect in endodermal barrier formation in the roots. Highly sensitive to excess iron. Retarded growth under low-potassium conditions. Repeatedly interrupted, discontinuous Casparian strip due to patch-like localization of the CASPs proteins. Reduced rosette leaf size
Mice grow normally and are healthy; other family members (CIB2, CIB3 and CIB4) may probably compensate for CIB1 loss (PubMed:18989529). Males are sterile: spermatogenic cells can complete both mitotic and meiotic divisions, but postmeiotic spermatids do not develop normally and sperm is not produced (PubMed:16982698). Display increased bone marrow megakaryocytes and circulating platelets (PubMed:22128142). Mice display tail bleeding time increase, impaired thrombus formation and angiogenesis defect after ischemia (PubMed:19691476). Show compromised tumor growth (PubMed:20804551). Does not affect auditory function (PubMed:29255404)
No visible phenotype under normal growth conditions, but mutant plants exhibit increased sensitivity to elevated levels of zinc, copper, lead, and to a lesser extent cadmium
Leads to no variable phenotypes
Lipid A contains a monophosphate group at position 1. Retains 4'-dephosphorylase activity on Kdo(2)-lipid IV(A). Increased sensitivity to the cationic antimicrobial peptide (CAMP) polymyxin B (PMB) but not other several other antibiotics. A double lpxE-lpxF mutant contains lipid A bi-phosphorylated at positions 1- and 4'- and has greater sensitivity to PMB that either single mutant. No visible effect on free-living bacteria, or on nitrogen fixation upon nodulation of P.vulgaris
Partially altered shape of the mitochondrial network with condensed, fragmented mitochondria accumulating at the periphery of cells. 60-70% of mitochondria exhibit an increased inner membrane surface and stacks of lamellar cristae disconnected from the inner boundary membrane
Defective egg-laying and increased resistance to pathogens. Simultaneous knockdown of akt-1 and akt-2 result in dauer formation and a weak extension to life span
Reduces markedly the expression of hepA and abolishes the production of heptelidic acid
Mice suffer of developmental arrest around 7.5 dpc and die between 7.5 dpc and 9.5 dpc. Defects are observed in the formation of Reichert's membrane that are probably due to abnormal glycosylation and maturation of dystroglycan and impaired recruitment of laminin
Inviable; simultaneous knockout of ANY1 rescues inviability
No visible phenotype at birth. Lysine hydroxylation of skin and bone collagen alpha chains is strongly reduced. In contrast, prolyl 3-hydroxylation is not affected, possibly due to complementation by other family members. Dorsal skin displays impaired packing of collagen fibrils, decreased skin tensile strength, and increased skin fragility. Likewise, mice deficient for both P3h3 and P3h4 display decreased lysine hydroxylation of collagen alpha chains, but normal collagen prolyl 3-hydroxylation
Abolishes the production of cercosporin (PubMed:17660442, PubMed:26938470). Leads to yellow-brown mycelia with significant export of colored compounds into the agar (PubMed:26938470)
Double mutants NEAP1-NEAP3 display reduced primary root growth, and altered nuclear morphology and chromatin structure
33% reduction in the larval diapause in the presence of dauer pheromone compared to wild-type
Deletion abolishes validamycin production
Semi-dwarf. Ga3ox1 and ga3ox2 double mutant has a severe defect in seed germination and root growth, and a dwarf phenotype
Normal hypersensitive response (HR) but impaired ability to suppress bacterial growth upon infection by the necrotrophic bacterial pathogens Pseudomonas syringae pv. tomato DC3000 harboring type III effector protein AvrRpm1 or AvrB
Strong developmental phenotypes, such as extremely short, and agravitropic primary roots, small aerial organ size, altered shape and pale white leaves, bushy inflorescence and reduced number of seeds
Reduced copper tolerance, which results in reduced brood size and retarded body length, protruding vulva (pvl) phenotype
Cells lacking this gene show a slight reduction in the levels of cholest-4-en-3-one-26-oate, but the concentration of 26-hydroxycholest-4-en-3-one is not measurably affected. The levels of 26-hydroxycholest-4-en-3-one and cholest-4-on-3-one-26-oate are drastically reduced in cells lacking both cyp125A3 and cyp142A2
Defects in new flagellum formation
Mild early flowering phenotype, reduced rosette diameter, abnormal floral developmental homeostasis and altered gynoecium growth determination associated with indeterminate ovaries growth. Production of ectopic inflorescences with severely affected flowers showing proliferation of ectopic stigmatic papillae and ovules in short-day conditions. Repression of FLC accompanied by an increase in histone H3 trimethylation on lysine 27 (H3K27me3). Altered expression of several genes, including LHP1-regulated genes (PubMed:21304947). Basal primed defense state due to changes in the basal expression of the salicylic acid (SA)- and jasmonic acid (JA)- dependent defense marker genes PR1 and PDF1.2, and altered composition of glucosinolates, a class of defense-related secondary metabolites. Reduced susceptibility to the hemi-biotrophic bacteria pathogen P.syringae and the necrotrophic ascomycete B.cinerea (PubMed:24914891)
Mutants are hyperphagic, obese, infertile, diabetic and have impaired growth (PubMed:12594516). Have wet brain weight significantly lower than controls. Brain uptake of leptin is also reduced (PubMed:11861497). Animals have an increased bone formation leading to high bone mass (PubMed:10660043). Have impaired T-cell immunity, Th2 responses are favoured in mutants (PubMed:9732873). Conditional knockout in parabrachial nucleus CCK-expressing neurons, treated with 2-deoxyglucose, have increased levels of glucagon, corticosterone and epinephrin concentrations compared to wild-types (PubMed:25383904)
Deletion of the gstA gene decreases the resistance of the bacteria to hydrogen peroxide
RNAi-mediated knockdown by injection into adults has little or no phenotypic effect (PubMed:11044397). However, simultaneous knockdown of forkhead gene fkh-2 causes 12% of eggs produced by hermaphrodites to arrest development at late stages of embryogenesis and 81% arrest after hatching as L1 stage larvae (PubMed:11044397)
Host cells show significantly lower transcriptional levels of autophagy-related genes (PubMed:31214151). In addition, VraS deletion decreases the ability of S.aureus to defend against phagocytosis and killing by host polymorphonuclear leukocytes (PMNs) (PubMed:31009806)
RNAi mediated knock-down is embryonic lethal. Embryogenesis proceeds more slowly, with embryos displaying defects in the positioning and shape of epidermal cells. 60% of embryos arrest at the bean stage of embryogenesis without any significant change in body shape. Nuclear localization of rtf-1 is unaffected
Reduced plant growth, pale-green leaves with reduced levels of chlorophyll. Chilling-sensitive phenotype
Mutant mice display increased blood pressure and impaired relaxation of vascular smooth muscle
Mice exhibit a longer circadian period of locomotor activity, alteration in the expression of core clock genes and impairment of the response of the circadian clock to stress. The peaks of DBP, NR1D1 and PER1 gene expression persists longer in the liver between Zeitgeber times (ZT) 12-14 hours
CDK10 knockout results in partial prenatal lethality. Surviving mice display severe growth retardation, a reduced volume of mineralized matrix in the head, femur, tibia and fibula, bifidity or clefting of C1 (atlas) or C2 (axis), and absence of the dens. Additional defects are present in the kidney, lung, heart, spleen, liver, and muscle. At cellular level, CDK10 knockout does not affect cell proliferation. However, knocked-out mouse embryonic fibroblasts (MEFs) develop longer cilia
Decreases expression from the aprE promoter
RNAi-mediated knockdown results in arrest at larval stage L3, with less than 40% forming a mature vulva, lipid accumulation, epidermal granule formation and reduced protein synthesis (PubMed:17720918, PubMed:18804378). There is also gonadal detachment during gonad migration (PubMed:25437307)
Essential for viabiliy. Grows only on siderophore-supplemented growth-medium, but shows decreased conidiation
Mutant mice are viable, fertile and have normal longevity. They show reduced SPP levels (PubMed:16314531). Mice have decreased fat mass but increased lean mass, they display increased energy expenditure compared to wild-type. Aging mice are protected from metabolic decline and obesity. 52-week old male mutant mice have decreased weight and fat mass, and increased glucose tolerance and insulin sensitivity compared to control mice (PubMed:30593892). Double knockout for SPHK1 and SPHK2 causes embryonic lethality (PubMed:16314531). Between 11.5 dpc and 12.5 dpc embryos exhibit cranial hemorrhage and die at 13.5 dpc (PubMed:16314531). At 11.5 dpc the wall of the dorsal aorta is poorly developed and endothelial cells are severely defective in all blood vessels in the mesenchymal region of the head (PubMed:16314531). Embryos also show a neural tube defect (PubMed:16314531)
Double mutations in this protein and in ARF3 protein significantly suppresses the adaxial development defect of leaves of the AS2 and RH10 proteins double mutant at high temperatures
Suppressed calmodulin (CaM) methylation, especially in roots. Longer roots with ectopic root hair cells in atrichoblast cell files and the presence of nonhair cells in trichoblast cell files. Increased number of epidermal cells in the root elongation zone. Reduced root growth inhibition mediated by auxins indole-3-acetic acid (IAA) and 2,4-dichlorophenoxyacetic acid (2,4-D). Reduced sensitivity to abscisic acid (ABA)-mediated stress leading to green cotyledons and normal germination in the presence of ABA. Increased tolerance to abiotic stress such as salt (NaCl), cold, drought and heat stresses
Disruption of MexA, MexB and OprM significantly reduces active efflux of N-(3-oxododecanoyl) homoserine lactone/3-oxo-C12-HSL/PAI-1, but not N-butyryl homoserine lactone/C4-HSL/PAI-2
Viable with normal development, size and lifespan. Reduced sensitivity to factors that induce neurodegeneration. Improved chemosensory response in aging worms
Aged mice show enhanced VEGFA expression, angiogenesis, inflammatory cell infiltration, aortic stenosis, lipid deposition and calcification in the cardiac valves
Mutants are constitutive of alkaline phosphatase and show chemotactic response to phosphate regardless of wheather the cells are starved for phosphate
No effect on sulfate uptake, due to the redundancy with SLT1 and SLTR2. Slt1 and sultr2 double mutants, as well as slt2 and sultr2 show a 50% decline in uptake while the slt1, slt2 and sultr2 triple mutant exhibits no increase in sulfate uptake capacity when deprived of sulfur
Mice are smaller and have a decreased weight (PubMed:30318146). Neocortical projection neurons display morphological defects reminiscent of Williams-Beuren syndrome (WBS) in human, characterized by less complex dendritic architecture and a smaller corpus callosum (PubMed:30318146). Mitochondria show decreased ATP production (PubMed:30318146). Mice do not show significant systemic metabolic defects (PubMed:30318146)
Inactivation of pcaA does not affect initial growth of the organism over the first 3 weeks, but after 6 weeks, when wild-type organisms persist at a constant level indefinitely, the pcaA mutant is progressively eliminated from the animal. Cells lacking this gene accumulates a hybrid mycolate with a cis double bond at the proximal position in place of the cis cyclopropane present in wild-type alpha mycolate
RNAi-mediated knockdown in cells of the pi uterine cell lineage results in impaired basement membrane mobility (PubMed:27661254). RNAi-mediated knockdown, on a lin-15 mutant background, causes adjacent vulval precursor cells (VPCs) to adopt altered cell fate (PubMed:14960273). RNAi-mediated knockdown, when combined with knockdown of apx-1, on a dsl-1 mutant background, causes adjacent vulval precursor cells (VPCs) to adopt altered cell fate; phenotype exacerbated on double mutant lin-15;dsl-1 background (PubMed:14960273). RNAi-mediated knockdown, on a lin-12 mutant background, induces the presence of 1-2 extra mesodermal lineage (M lineage)-derived coelomocytes and the concomitant loss of sex myoblasts on the ventral side of the animal (PubMed:18036582). On an apx-1 mutant background, RNAi-mediated knockdown causes germ cells to display nuclear morphology consistent with meiotic prophase or gametogenesis in adult hermaphrodites (PubMed:19502484)
Cells lacking this gene display a decrease in viability during heat shock, long term survival and starvation experiments. They also exhibit significantly reduced virulence in a murine model of septic arthritis infection and decreased capacity to colonize host tissues
Inactivation of the gene abolishes growth on 2-butanone and 2-hexanol (PubMed:17351032). Mutant accumulates ethyl acetate (PubMed:17351032)
No visible phenotype. Redundant with BEE1 and BEE3
Abolished brassinosteroid (BR)-induced ASK7/BIN2/SK21 degradation, and BR-insensitivity. Suppression of the constitutive BR-response phenotype in the dominant mutant bzr1-1D, and accumulation of phosphorylated BZR1
No visible phenotype (PubMed:31829135). Slight hydration defects of wild-type pollen placed on the stigma (PubMed:31829135). Slight hydration defects of wild-type pollen placed on the stigma of plants lacking both BKN1 and BKN2, but normal pollen grain adhesion and pollen tube growth (PubMed:31829135). Partial suppression of the pleiotropic phenotypes conferred by the dominant mutation zed1-D (e.g. high-temperature-dependent growth retardation and autoimmunity) (PubMed:30947022)
When the whole pdu operon except this gene is expressed in E.coli no BMCs are made; with the whole operon many BMCs are produced in E.coli
Mice display abnormal erythrocytes and reduced hemoglobin content due to defects in hemoglobin synthesis
The double mutant sap130a sap130b displays a slight reduction in the size of aerial organs and in the number of lateral roots, and is impaired in reproduction due to a reduced production of viable pollen and impaired female reproductive organs. Defect in the transition from microspore to the bicellular stage in pollen development. Reduced expression of QRT1 and QRT3
Radially swollen roots without any depletion or disorientation of cortical microtubules or cellulose microfibrils
Mutant cells grow and develop well, forming normally proportioned fruiting bodies, but the number of viable spores is reduced to about half
Mutant mice display increased early postnatal mortality rate, reduction of total body fat mass, nearly total absence of gonadal fat and great reduction in subcutaneous fat. Mice have enlarged visceral organs, markedly steatotic liver, decreased adipocyte size and number, and display decreased levels of plasma adiponectin and leptin, glucose intolerance and insulin resistance but not hypertriglyceridemia
Deficient mice at 4 weeks postnatal age show reduced lens size and microphthalmia (PubMed:26231217)
Deletion of the gene does not have a major impact on sensitivity to frontline tuberculosis drugs such as rifampicin, isoniazid or ethambutol, and does not affect susceptibility to hydrogen peroxide (PubMed:36149732). The deletion mutant survives equally well under nutrient starvation or in hypoxia and is not attenuated for growth in macrophages (PubMed:36149732)
RNAi-mediated knockdown results in defective head and tail avoidance responses to Streptomyces and to dodecanoic acid. It also results in severely reduced calcium influx into ASH neurons in response to both S.avermitilis and dodecanoic acid
Loss of cell wall anchoring of IsdC (PubMed:11830639). No effect on establishment of mouse infections, however reduced bacterial persistence after 9 days infection in mice (using strain Newman, which is more pathogenic than RN4220) (PubMed:11830639)
Deletion results in slower embryonic development, mutants that are 5% shorter than their wild-type conterparts, and also leads to the prevention of nuclear migration in the embryonic epidermis (PubMed:26371552, PubMed:26586219). RNAi-mediated knockdown results in fragmentation of the cadherin-based junctional complex in embryos and intermediate filaments display a diffuse pattern in older embryos (PubMed:26586219). RNAi-mediated knockdown of isoform h results in disrupted germline architecture and sterility (PubMed:26371552)
In strain S30, cold-sensitive; decreased growth at 30 degrees Celsius, no growth at 20 degrees Celsius. Reduced biofilm formation, increased hemolytic activity, increased stability of mRNAs of the agrBDCA operon. A double agrA-cshA mutation has wild-type biofilm and hemolytic activity (all phenotypes in strain S30)
Cells lacking both ablA and ablB no longer produce N6-acetyl-beta-lysine and are incapable of growth at high salt concentrations
Deletion mutant shows a delay of exponential phase, reduction of maximum cell number and significant changes in the nucleotide sequence lengths of its 5S, 16S, and 23S rRNAs in early exponential phase
Disruption of the gene abolishes C-1027 production and leads to the formation of 22-deshydroxy-C-1027
Leads to the accumulation of chrysophanol
Delayed spike repolarization
Heterozygous mice show male infertility because of immotile sperm: glycolytic enzymes required for sperm motility are decreased, their protein loading into acrosomes disrupted, and aberrant localization of the ubiquitin-proteasome system is observed. Females show normal fertility
Deletion mutants show defect in both DNA transformation and twitching motility
Loss of glycine-induced currents in cortical neurons from 17 dpc embryos. Still, mutant mice are born at the expected Mendelian rate, are healthy and fertile. No effect on glycine-induced currents in cortical neurons from seven day old mice (PubMed:16847326). Baseline nociception is not changed, but mutant mice show increased hyperalgesia in response to mechanical stimuli during later stages of inflammation caused by zymosan injection (PubMed:21924294). Knockout mice show impaired learnig, short- and long-term memory deficits, and impaired long-term potentiation in the prefrontal cortex. Locomotor activity, motor coordination, and social behavior are normal (PubMed:26370147)
Abnormalities in vulval development due to incorrect cell fate specification, resulting in the following phenotypes, multivulva (Muv), protruding vulva (Pvl) and egg laying defective (Egl) (PubMed:9716532, PubMed:11063687, PubMed:11560894, PubMed:12441291). Mutants also show defects in Q neuroblast migration, uncoordinated movement (Unc) and reduced superoxidase dismutase levels (PubMed:15905404). Mutants can be rescued by wrm-1 and hmp-2 when expressed from the bar-1 promoter (PubMed:11560894). Double knockout with dpy-22 result in reduced body length, male tail morphology abnormalities (Mab) and dauer induction (PubMed:12441291). RNAi-mediated knockdown in the intestine decreases E.faecium-mediated protection against S.enterica infection (PubMed:35263319)
Mutant does not express the MeOPN CPS modification
Embryonic lethality when homozygous, due to embryo development arrested at one-cell stage
Embryonic lethal about 11.5 days after fertilization (PubMed:16648478). Decreases metastasis in a mouse model of melanoma (PubMed:23185508)
Renders cells sensitive to reactive oxigen species. Renders A.fumigatus avirulent in a mouse model of pulmonary aspergillosis
Cells lacking this gene show a complete loss of toluene-4-monooxygenase activity
Leads to increased resistance to cell-wall-damaging agents, such as calcofluor white (CFW) and Congo red (CR) (PubMed:27479571). Accumulates unmethylated glucosylceramides (PubMed:27479571)
Sensitive to amino acid starvation (PubMed:19940160). Normal GCN4 protein level during amino acid starvation (PubMed:19940160)
Male sterility
Mutants fail to culminate. Development is normal until migratory slugs are formed, but slugs lacking cudA fail to culminate in the dark or in low level unidirectional light. In overhead light slugs lacking cudA eventually form defective fruiting bodies that lack both mature stalk cells and mature spore cells
Although mice are viable and do not show visible phenotype, they display non-Mendelian inheritance (PubMed:35584702). Mice show impaired zinc homeostasis: they are sensitive to dietary zinc starvation and show decreased weight gain when fed a low zinc diet, due to failure to access existing zinc pools (PubMed:35584702). Impaired zinc homeostasis leads to mitochondrial dysfunction (PubMed:35584702). Mice also display kidney defects, characterized by hydronephrosis, hydroureters and duplicated ureters (PubMed:31862704)
Reduces dramatically the ability to penetrate host cells
Still forms magnetite crystals, which are about half the size of wild-type but have a wild-type surface
Deficient mice do not reveal any specific phenotype, however these mice are more susceptible to abnormal embryonic development because of zinc deficiency during pregnancy
Albino and seedling lethality. Tic20-I and tic20-IV double mutant is embryo lethal
Increased root length under light-grown conditions. Increased length of hypocotyls under dark-grown conditions. Altered architecture of the actin cytoskeleton in hypocotyl cells (PubMed:22010035). Compromised resistance in response to Pseudomonas syringae pv tomato expressing AvrPphB (PubMed:19346440)
Viable. Shows defects in several behavioral responses, including abnormal avoidance response to the chemoattractant lysine and impaired adaptability induced by prior exposure to high concentration of fructose. Delay in egg-laying upon refeeding after starvation. Slight decrease in brood size
Mutant mice are born at the expected Mendelian rate and show normal body weight development. However, they display reduced sensorimotor gating and impaired motor performance
Displays elevated rates of loss of heterozygosity (LOH) (PubMed:18562670). A combined deletion of the LOH1/OSW4 and IRC18/OSW6 has reduced dityrosine incorporation in the outer spore wall (PubMed:23966878)
Cells lacking this gene are unable to utilize L-leucine, isovalerate or acyclic terpenes as carbon source
Leads to hygromycin B hypersentsitivity, increased vacuolar fragmentation, defective CPY processing, and extreme sensitivities to pH extremes, divalent cations, and multiple drugs
Viable, but 85% of animals are sterile at 20 degrees Celsius (PubMed:27104746). Reduced number of intestinal cells in 1.5-fold stage embryos due to defective intestinal divisions and binuleations at the 16E cell stage of embryonic development (PubMed:27104746). Knockout with wee-1.3 RNAi suppresses the defect in intestinal cell divisions in the cdc-25.2 single mutant (PubMed:27104746). RNAi-mediated knockdown causes abnormal male tail morphology; this phenotype is suppressed by simultaneous RNAi-mediated knockdown of wee-1.3 (PubMed:27923661)
Embryo deffective
Insensitive to ethylene-induced root growth inhibition
Impaired growth of root hair cells, twisted shape of stem trichomes, and irregular size, branch positioning, and branch expansion of leaf trichomes. Affected organization of the ER network and orientation of the actin filament bundles
Cells are shorter in a single mutant, while triple envC-nlpD-ygeR disruptions have defects in septation and cell separation and form long filaments (15-fold longer) and further yet by the quadruple disruption mutant (envC-nlpD-mepM(yebA)-ygeR, over 21-fold longer). Quadruple mutants are less sensitive to ampicillin lysis
Decreased tolerance to acid stress
Leads to reduced growth when acetate is used as sole carbon source at low concentration and in a high pH medium
Cells lacking this gene exhibit almost complete aerotolerance and increased H(2)O(2) resistance. Deletion of perR does not affect the intracellular level of iron but increases two-fold that of zinc
Mice show a disrupted pattern of axonal projections to the accessory olfactory bulb. Mice lacking all but one V1ra and V1rb gene (12% of the V1r repertoire) show a lack of chemosensory response to a subset of known pheromonal ligands and changes in maternal aggression as well as male reproductive behavior
RNAi-mediated knockdown results in a mild defecation defect
Glossy stem and fruit and reduced fertility due to the inability of the pollen grains to rehydrate on the stigma surface. Disappearance of the wax crystals. Decreased C29, C31 and C33 alkane contents. Increased susceptibility to soil water deficit
Completely abolishes the production of fumagillin but leads to the accumulation of the intermediate prefumagillin (PubMed:24082142, PubMed:24568283)
No visible phenotype under normal growth conditions (PubMed:25228083). The double mutants c3h14 and c3h15 have reductions in stem secondary cell wall thickening and defects in anther development (PubMed:25732536). Callose deposition defects in microspores, and pollen exine formation severely affected, leading to male sterility (PubMed:24567187)
Not essential for aerobic growth in vitro, has a 20% decrease in tmRNA levels. Increased sensitivity to antibiotics that inhibit translation (chloramphenicol and erythromycin) but not transcription (rifampicin). No change in sensitivity to pyrazinamide (PZA). Unlike smpB, the gene for tmRNA (ssr, 10Sa RNA) is essential. Strains with ssr or smpB disruptions are not more sensitive to pyrazinamide, suggesting the prodrug does not directly target either of these components of trans-translation
Mice die in utero
Plants have short root hairs and stunted roots
Impaired growth on media with no added iron. No response to glycine betaine in chilling assays
Reduced histamine levels in the head; specifically, in the central brain, beneath the basement membrane and in proximity to the lamina neuropil (PubMed:12486147). Fewer synaptic vesicles in the terminals of R1-R6 photoreceptors (PubMed:12486147). Loss of carcinine production in the head (PubMed:12486147). Photoreceptor response to light is abnormal (PubMed:5782111). Electroretinogram (ERG) recordings lack 'on' and 'off' transients probably due to an impaired synaptic transmission to postsynaptic cells (PubMed:5782111). Induces a darker pigmentation of the body (PubMed:11934851, PubMed:31118901). The pigment stripe near the posterior edge of each abdominal tergite is darker compared to wild type (PubMed:11934851). Ectopic pigmentation in the thorax and in the wings (PubMed:11934851). In newly emerged female imagoes and fly frass, beta-alanyl-dopamine (NBAD) levels are reduced and dopamine levels are elevated about 2-fold (PubMed:8580497). Females have lower levels of short chain hydrocarbons (CHC) (less than 25C) and higher levels of long chain CHCs (more than 25C) (PubMed:31118901). RNAi-mediated knockdown in oenocytes has no effect on the length of CHC (PubMed:31118901)
No defects in growth and development, but reduced susceptibility to beet severe curly top virus infection
Flies have no photoreceptor potential, their eyes lack phospholipase C (PLC) activity and they are completely blind
Reduced brassinolide accumulation but increased responsiveness to abscisic acid (ABA) and overall drought tolerance
RNAi-mediated knockdown abolished expression of collagen col-38 at mid-to-late larval stage L4 (PubMed:29604168). Knockdown, whether untargeted, or hypodermis-specific, represses intestinal genes involved in fatty acid metabolism and beta-oxidation in the L4 larval stage (PubMed:31974205). Drastically reduces expression of the vitellogenin genes (PubMed:27401555). Knockdown causes transcription factor pqm-1 to accumulate in the intestinal nuclei at adulthood, but has no effect on daf-16 localization (PubMed:27401555)
Cells are not affected in cellular iron content and sensitivity to oxidants
(Microbial infection) RNAi-mediated knockdown reduces infection by West Nile virus (WNV) and Dengue virus type 2 (DENV-2)
Peroxisome-defective phenotype including an absolute requirement for sucrose during early development, high seedling lethality, and delayed development
Single knockout mice show a reduction in pantothenate kinase (PANK) activity of about 30% and 60% in the liver and brain respectively. Pank1 and Pank2 double knockout mice develop progressively severe hypoglycemia and hyperketonemia by postnatal day 10 leading to their death by day 17. A reduction in PANK activity of about 90-95% seen in the liver and brain and hepatocytes show reduced NADH levels
Early flowering, defects in floral morphology in whorls 1-3, but fully fertile flowers (PubMed:12207655). Reduced seed dormancy and increased germination rate of freshly harvested seeds (PubMed:21799800)
Embryonic lethal, before E6.5
Mutant mice mostly die in utero or soon after birth likely because of developmental defects in the cardiac outflow tract and/or neural tube closure (PubMed:22886576, PubMed:33898458). Few mice that reach the adult life, equally distributed between males and females, show a dwarf phenotype likely due to defects in cell proliferation (PubMed:22886576). Deletion gene also results in disruption of the testis cytoarchitecture and block of spermatogenesis (PubMed:18241078)
Flies are viable and do not display neuromuscular dysfunctions. Strong synthetic lethal phenotype in the presence of a hypomorphic Smn mutation
Mutation decreases resistance to mercury
No visible phenotype on vegetative growth, but prevents formation of fruiting bodies
Reduced male fertility associated with delayed anther dehiscence, reduced pollen viability and decreased fecundity. Increased susceptibility to Botrytis infection. Myb24 and myb108 double mutant has a reduced fertility and a greatly reduced seed set relative to the myb108 parental allele
No visible phenotype in flowers or siliques, but reduced root growth. Suberin with a significant decrease in VLCFA derivatives longer than C20 (PubMed:18786002). No visible phenotype, but reduced root growth. Kcs2 and kcs20 double mutants have a glossy green appearance due to a significant reduction of the amount of epicuticular wax crystals on the stems and siliques, a significant reduction of C22 and C24 VLCFA derivatives in aliphatic suberin and a roots growth retardation and abnormal lamellation of the suberin layer in the endodermis (PubMed:19619160)
Strongly resistant to the microtubule depolymerizing drug thiabendazole (TBZ). No effect on DNA damage sensitivity in response to ionizing radiation (IR), ultraviolet (UV), hydroxyurea (HU) or camptothecin (CPT) compared to wild-type
Cells lacking this gene are not able to utilize GABA as a nitrogen source, in contrast to wild-type, but grow normally with arginine, ornithine, putrescine and agmatine (PubMed:12446648). Cells show only 68% of the wild-type GABA aminotransferase activity (PubMed:20639325)
No visible phenotype, with no change in growth rate at 20 or 26 degrees Celsius, general morphology or lifespan compared to wild-type (PubMed:22269071). Does not affect brood size, embryonic development or defecation rates of itr-1 (sa73) mutants (PubMed:22269071). No change in development or survival compared to wild-type animals following exposure to ER stress inducing agents such as tunicamycin and dithiothreitol (PubMed:22269071)
Greatly diminishes the production of terreic acid (PubMed:25265334)
Mutants do not grow with sulfoacetate, but can use acetate, taurine, isethionate and sulfoacetaldehyde
Prominent defect in cytokinesis and an impairment of multicellular development. In multinucleate sepA-null cells nuclear division proceed normally and synchronously. However, often cleavage furrows are either missing or atypical; they are extremely asymmetric and constriction is impaired. Null cells form fruiting bodies, but these are smaller than the wild-type ones
Abolishes the production of iso-A82775C, but accumulates pestalodiol E
Leads to sensitivity to weak organic acids and decreases cell adherence to silicone substrate
Disruption of ywjI alone (or fbp alone) does not affect growth on various carbon sources. But the ywjI fbp double mutant is unable to grow with carbon sources demanding FBPase activity, i.e. glycerol, malate, and a mixture of succinate and glutamate
RNAi-mediated knockdown leads to embryonic lethality (PubMed:23064028). Increased and prolonged cortical contractility leading to a more persistent pseudocleavage in surviving embryos (PubMed:23064028). Decrease in rho-1 anterior cortex localization and increase in posterior cortex localization, leading to a loss of asymmetric rho-1 cortex localization during early embryonic cell division (PubMed:23064028). Increased cortical nmy-2 network between the foci, suggesting that the enhanced contractions are due to increased actomyosin contractility (PubMed:23064028). Reduction in the size of the anterior cortex and increase in the size of the posterior cortex during polarity establishment in the early embryo (PubMed:23064028). Leads to a delay in embryonic cell cycle progression (PubMed:23064028). Double RNAi-mediated knockdown with rho-1 results in loss of cortical contractility (PubMed:23064028)
Sensitive to rapamycin (TORC1 signaling-inhibitor) (PubMed:28993463). Decreases and delays activation of TORC1 signaling in nitrogen-replete conditions (glutamine nitrogen source) (PubMed:29698392). Abnormal punctate localization of PIB2 and TOR1 in nitrogen-replete conditions (glutamine nitrogen source) (PubMed:29698392, PubMed:32801125, PubMed:28993463). Increases cellular levels of glutamine and alanine during high hydrostatic pressure (mechanical stress) (PubMed:32801125). Sensitive to high hydrostatic pressure (PubMed:32801125). Resistance to tunicamycin (endoplasmic reticulum stressor) administered together with FK506 (calcineurin inhibitor) (PubMed:26510498). Normal localization of KOG1 and TOR1 to the vacuolar membrane (PubMed:28483912). Simultaneous disruption of PIB2 results in TOR1 mislocalization and loss of TORC1 activity and viability (PubMed:29698392)
Impairs the production of fumonisins but accumaulates the intermediate tetradehydro-fumonisin B1 (PubMed:17147424)
Since CXCL16 and ZMYND15 genes overlap in their 5'UTRs, CXCL16 knockout also disrupts the ZMYND15 gene. The double knockout mice display severe depletion of late spermatids and are thus infertile. This phenotype is probably due to ZMYND15, rather than CXCL16, deficiency
Mice are viable and fertile, but have an altered bile metabolism: they have increased CYP7A1 levels, secrete more bile acids and are resistant to cholesterol gallstone formation
Cells lacking both abc2 and abc4 show sensitivity to cycloheximide (CHX) and 4-nitroquinoline oxide (4-NQO), and decreased accumulation of monochlorobimane-glutathione (MCIB-GS)
Abolishes glycolate oxidase activity. Is unable to grow on glycolate as the sole source of carbon, in contrast to wild type
Normal plants under standard growth conditions, but severe symptoms of photooxidative damage under excess light due to a deficient induction of singlet oxygen 1O(2) detoxification reactions, thus leading to pale leaf phenotype, early senescence and lack of anthocyanin accumulation (PubMed:24151292, PubMed:27813110). Increased susceptibility to low temperatures and high photon flux density (PFD) conditions. Increased lipid peroxidation in response to beta-cyclocitral (beta-cc) associated with reduced induction of reactive oxygen species (ROS) responsive genes (e.g. AAA, LTI30, ZAT12 and WRKY40). Altered induction of gene (e.g. AAA, OXI1, CAT2, APX1 and RD20) expression in response to the lactone dihydroactinidiolide (PubMed:27813110). Accumulation of singlet oxygen 1O(2) in chloroplasts in response to light stress. Early senescence of the older leaves. Plants lacking both MBS1 and MBS2 exhibit premature leaf senescence (PubMed:24151292)
Cells lose the hydrolase activity
Deletion mutant cannot grow on D-altritol. Does not exhibit a growth defect when grown on D-galactitol
Complete disruption of this gene could not be achieved, suggesting that the CugP-type UDP-Glc PPase is essential for growth and survival of Synechocystis
Leaf albino phenotype, reduced root length, and partial seedling lethality
Conditional knockout in cardiomyocytes results in dilated cardiomyopathy in juveniles and death within 60 days of birth with aberrant splicing occurring in a number of genes including Ktn1, Lmo7, Mef2a, Tmed2, Snap23, Sorbs1 and Ttn
Embryonic lethal. Embryonic wound healing defects. The few adult escapers show subtle rough eye phenotype and extra and/or misplaced or missing macrochaetae on the scutellum
Strong reduction of the starch level in leaves, but 50-fold increase of water-soluble polysaccharides. No alteration of the amylase-to-amylopectin ratio
Delayed pollen development with reduced nuclei content leading to reduced pollen germination capacity, and pale seeds with arrested embryo development at the globular stage in homozygous plants (PubMed:23382868). In heterozygous plants, slight accumulation of the 23S-like precursor P-A3 (PubMed:23382868). Reduced siliques size with small non-developed and early aborted seeds (PubMed:23382868)
Embryonic lethality due to embryo development arrest at the octant stage
Causes asparagine auxotrophy
No visible phenotype under normal growth conditions, but mutant seedlings show increased salt-stress tolerance
Embryos display defective melanosome transport and disruption of the ciliated Kupffer's vesicle phenotypes. BBIP1 morpholino knockdown results in bilateral cystic dilations of the pronephros. Pronephric cilia of morphants are abnormally short and fail to maintain a parallel orientation to the anteroposterior axis of the duct. Morphants also show increased frequency of situs inversus compared to wild-type and abnormal retinal development
Cells lacking the cysIJ genes are unable to use sulfate, sulfite or butanesulfonate as sole sulfur source, grow poorly with sulfide, but can still grow with thiosulfate, cysteine or methionine
Cells lacking this gene exhibit a 250-fold decrease in the triclosan MIC
Displays reduced dimethylation of lysine 9 and lysine 27 of histone H3 and hyperacetylation of histone H4 within the FLC locus and shows a moderate delayed flowering (PubMed:17224141). Delayed flowering (PubMed:23071452)
RNAi-mediated knockdown in the bloodstream form is lethal and causes a reduction in chaperone mRNA levels in response to heat-induced stress (PubMed:23592996). RNAi-mediated knockdown in the procyclic form causes sensitivity to cytoplasmic protein folding stress (induced by high temperature, puromycin, arsenite, MG132 or ethanol), characterized by a reduction in chaperone mRNA levels (PubMed:23592996, PubMed:27002830)
Cells lacking this gene exhibit reduced survival both in macrophages and in a mouse infection model
Loss of seed dormancy, but no effect on sugar sensitivity (in cv. Columbia) (PubMed:17065317, PubMed:18410483). A T-DNA insertion mutant lacking the long version of the DOG1 transcript (isoform 1) but expressing isoform 2 exhibits stronger seed dormancy (PubMed:26620523)
Mice display embryonic lethality at 14.5 dpc due to massive liver degeneration and apoptosis. Embryonic fibroblasts from mice lacking Tbk1 exhibit dramatically reduced transcription of NF-kappa-B, as well as marked defects in interferon alpha and beta, and RANTES gene expression after infection with Sendai or Newcastle disease virus
RNAi-mediated knockdown in pupae results in smaller muscle founder templates that display a reduced number of nuclei. No effect on the initiation of myoblast fusion
Blocks the conidiation through severely down-regulating the expression of brlA and abaA (PubMed:26283234). Drastically reduces cephalosporin production by decreasing expression of pcbAB, pbcC, cefD1, cefD2, cefEF and cefG (PubMed:26283234). Reduces also the expression of the mannoprotein encoding genes Acmp2 and Acmp3 and impairs cell wall integrity (PubMed:26283234)
No defect in mosquito vector infection where formation of oocysts and salivary gland sporozoites are normal (PubMed:20584882). Normal phosphorylation of eIF2alpha in response to amino acid starvation (PubMed:19435497)
Cells lacking this gene are totally unable to grow on L-threitol
No effect on growth rate, asexual development, sexual cell fusion, or zygote formation
Results in a significant decrease in survival after desiccation but does not affect survival under frozen conditions (PubMed:28306513)
Embryonic lethality in one-third of the mutant embryos because of pregastrulation developmental malformations. However, the majority of mutants survive until adulthood without any overt abnormality (PubMed:17936261, PubMed:16368929). Mutant mice shown resistance to diet-induced obesity (PubMed:18480259)
Decreases virulence in mice (PubMed:8760791, PubMed:14977977)
Increased sensitivity to abscissic acid (ABA) but slightly decreased sensitivity to salt and osmotic stresses during seed germination
Leads to increased resistance to cell-wall-damaging agents, such as calcofluor white (CFW) and Congo red (CR) (PubMed:27479571). Accumulates C8-saturated and unmethylated glucosylceramides (PubMed:27479571). Displays growth and conidiation defects as well as and raft mislocalization (PubMed:27479571)
Lethal at the second larval stage because of defects in pre-rRNA processing. RNAi-mediated knockdown in fat body cells results in accumulation of RpS2 and the pre-40S ribosome in the nucleus and overall decreased cell and nucleus size. RNAi-mediated knockdown in wing imaginal disk results in caspase-dependent cell-death
Deletion mutant has no growth or cell division defects, but mutant shows increased susceptibility to beta-lactams. Deletion of the gene leads to the production of only alpha-O-GlcNAcylated WTAs
Embryonic and perinatal lethality, due to defects in brain and neural tube development. Mice exhibit abnormal cortical layering and defective migration and differentiation of several subtypes of cortical neurons. Cranial neural folds fail to converge in most embryos, leading to an open neural tube and exencephaly. Likewise, mice exhibit defects in the embryonic development of the cerebellum and the olfactory bulb
No visible phenotype; due to the presence of other cholinesterases. Hypersensitive to acetylcholinesterase inhibitors, such as huperzine and donepezil. Treatment with the acetylcholinesterase inhibitor donepezil causes convulsions and death within 3 hours of dosing
Sensitive to low levels of AsO4(3-) and to a lesser degree to As(5+)
Null mutants are viable and fertile, but have strongly impaired mitochondrial calcium uptake following laser or needle wounding (PubMed:25313960). Reduces the wound-induced transient elevations in mitochondrial reactive oxygen species superoxide (which are known as mitochondrial flashes or mitoflashes) (PubMed:25313960). Double knockout with the srb-13 xm1 mutant suppresses the sperm navigation defect in the srb-13 single mutant (PubMed:28662030)
Abolishes methenyltetrahydrofolate synthase activity and leads to accumulation of folinic acid. Leads to a striking methionine deficiency when combined with ADE16 and ADE17, 2 isoenzymes involved in the purine synthesis
Slightly earlier flowering time under both short and long-day conditions (PubMed:25202318). Altered metabolites profile (PubMed:25202318)
Mutant exhibits decreased binding to GalNAcbeta1-4Gal containing receptors that are present on type II lung cells and vascular endothelial cells
Viable and fertile with no obvious phenotype. Reduced adult survival after wounding of the thorax, especially when the injury completely penetrates the thorax (strong wound). Wounding coupled with septic infection (septic injury) does not further reduce survival. Survival after wounding is increased when flies ingest the oxidant paraquat. Impaired melanization at the wound site. In pupae, aseptic and septic-injury does not induce the cleavage of PPO1, and in adults and larvae PPO1 activity is abolished
Worms show defects in the axonal outgrowth of motor neurons, as well as defects in dauer formation, a process requiring chemosensory inputs
Leads to altered sphingolipid synthesis
Leads to modest tolerance to azoles and terbinafine, but not to amphotericin B and nystatin (PubMed:22530691). Elevates the intracellular Ca(2+) and leads to the activation of the calcium/calcineurin signaling pathway (PubMed:22530691)
Male-sterile mutant, defective in tapetal development, characterized by irregular and excessive division, redundant cells and leading to dysfunction of the tapetum (PubMed:18397379, PubMed:21957980). Impaired callose dissolution resulting in altered microspores release from the tetrads and no pollen production (PubMed:18397379)
No visible phenotype. Mutant mice exhibit normal gut homeostasis and microbiota composition. Following rotavirus infection, mutant animals have higher viral loads in the small intestine, increased fecal shedding of viral antigens, and more frequent incidences of diarrhea compared to wild-type littermates. Mice with a conditional knockout in ileum intestinal epithelial cells are also more susceptible to rotavirus infection compared to control animals
Females are sterile. Hypersensitive to the topoisomerase I inhibitor camptothecin. Highly elevated rates of mitotic DNA recombination resulting from excessive reciprocal exchange
Completely abolishes the production of fumagillin but leads to the accumulation of the intermediate beta-trans-bergamotene (PubMed:24082142, PubMed:24568283)
Death at embryonic day 10.5. Embryonic lethality is caused by severe brain malformation and heart defect
Correct processing of the 3' end of 23S rRNA no longer occurs in the absence of mrnC
Cells show no growth phenotype even at acidic pH
Cells lacking this gene display highest sensitivity to carbonyl stress. The yajL mutant (but not the parental strain) suffers from a 100-fold decrease in viability after incubation for 48 h in LB medium containing 0.6% glucose, and the mutant is rescued by YajL- and DJ-1-overproducing plasmids. The wild-type strain displays a small quantity of glycated proteins after overnight culture in LB medium supplemented with 0.6% glucose, whereas the yajL mutant displays much higher levels of glycated proteins (PubMed:25416785, PubMed:26774339), and also higher DNA and RNA glycation levels (PubMed:28596309). Moreover, the double and triple mutants lacking yhbO and yajL, and yhbO, yajL and hchA, respectively, display impressive amounts of glycated proteins, suggesting that the YhbO, YajL and Hsp31 deglycases display relatively redundant functions (PubMed:26774339). The triple mutant displays higher glycation levels of free nucleotides (GTP and dGTP) than the parental strain, and shows higher glycation levels of DNA and RNA than those of single mutants (PubMed:28596309). The yajL mutant cells display decreased viability in methylglyoxal- or glucose-containing media (PubMed:26774339). They also display increased protein sulfenic acids levels, both before and after oxidative stress, but similar protein disulfides levels (PubMed:22321799). In aerobiosis, mutants show a protein aggregation phenotype, which is increased by oxidative stress (PubMed:20124404). Mutants show also altered gene expression and display decreased translation accuracy (PubMed:20889753). The yajL deletion mutant shows a negligible NADH dehydrogenase 1 activity and compensates for this low activity by utilizing NADH-independent alternative dehydrogenases, including pyruvate oxidase PoxB and D-aminoacid dehydrogenase DadA, and mixed acid aerobic fermentations characterized by acetate, lactate, succinate and ethanol excretion (PubMed:26377309). It shows up-regulation of genes involved in glycolytic and pentose phosphate pathways and alternative respiratory pathways (PubMed:26377309). Moreover, the yajL mutant preferentially catabolizes pyruvate-forming amino acids over Krebs cycle-related ones, and thus it utilizes pyruvate-centred respiro-fermentative metabolism to compensate for the NADH dehydrogenase 1 defect (PubMed:26377309)
Knockout mice are smaller than sex-matched littermates, and all exhibit domed heads typical of hydrocephalus. The majority die before reaching 4 months of age. Brain lateral and third ventricles are severaly dilated with frequent hemorrhage, sometimes accompanied by fibrosis and neovascularization of the meninges and choroid. Nasal passages and maxillary sinuses are partially filled with varying combinations of proteinaceous fluid or suppurative exudates. Suppurative otitis media is frequently observed. On the respiratory epithelium and ependymal cells lining the dilated ventricles, cilia are shorter than those in wild-type littermate control mice (PubMed:21746835). Partial agenesis of the corpus callosum has also been reported (PubMed:24284070)
Cells lacking this gene grow on acetate with the same aconitase activity as cells on glucose. This mutant is unable to grow on acetate as the sole carbon and energy source and, in comparison to the wild-type, shows very low specific activities of phosphotransacetylase, acetate kinase, isocitrate lyase, and malate synthase, irrespective of the presence of acetate in the medium (PubMed:16547043, PubMed:19095019). The transcription level of the rpf2 gene is reduced 2.5-fold in the ramA deletion mutant during growth on glucose as the sole carbon source (PubMed:18355281)
Resistance to muscle atrophy accompanied by abnormal accumulation of polyubiquitinated proteins in skeletal muscle
Mice exhibit malformation of the tongue and of lower jam causing newborns to swallow air leading to 100% neonatal lethality. Conditional knockout of both Lgr4 and Lgr5 in the gut results in Wnt signaling inhibition and results in the rapid demise of intestinal crypts (PubMed:21727895). Simultaneous knockdown of LGR4, LGR5 and LGR6 results in developmental phenotypes, such as cleft palate and ankyloglossia, but not in tetra-amelia with lung agenesis (PubMed:29769720)
Impaired growth, cytoskeletal disruptions caused by actin polarization defects, and abberent nuclear segregation caused by misoriented mitotic spindles (PubMed:17429077). Cells are enlarged or do not bud, caused by cell cycle arrest in G1/S phase (PubMed:17429077)
Early larval arrest, continued gonad expansion and shortened lifespan. RNAi-mediated knockdown results in continuous distal tip cell migration past the midline during adulthood. In a rnf-5(tm794) mutant background, increased severity of the distal tip cell migration defects
Cells lacking this gene are unable to transform L,L-DAP and show an impaired growth when supplied with low ammonium but high concentrations of carbon
Resistant to the acetylcholine esterase inhibitor Aldicarb (PubMed:22593072). Impairs temperature sensitivity, tolerating higher temperatures compared to wild-type (PubMed:22593072)
Loss of zygotic expression results in decreased embryonic cell death and the persistence of differentiated neuronal cells along the ventral nerve cord at late embryonic stages. Embryos that do hatch undergo growth arrest at early larval stages, accompanied by mitochondrial respiratory dysfunction
Leads to decreased caspofungin sensitivity
Death at birth. Mice fail to expand their lungs and do not move their abnormally thin limbs
Leads to a complete loss of austinoid production
Reduced growth rates. Altered embryonic development, seed suberin accumulation, cutin formation in the seed coat and reduced seed size. Lack of flavanoid accumulation in the seed coat (transparent testa phenotype)
A single deletion is more sensitive to oxidative stress (cumene hydroperoxide but not plumbagin). A double bfrA-bfrB mutant grows 40% less well in the presence of an iron chelator, is more sensitive to oxidative stress, has significantly reduced pathological effects in guinea pigs and a marked reduction in its survival in human macrophages
Deletion mutant shows decreased growth rate on arabinose or xylose. It cannot grow on low concentrations of arabinose or xylose
Knockout males are completely sterile despite normal mating behavior with ejaculation and vaginal plug formation (PubMed:33871360, PubMed:35393517). DCST1 and DCST2 double knockout males, but not females, are completely infertile. Mutants have no disturbances in sperm migration into the oviduct, acrosome reaction and zona penetration. Mutant spermatozoa are capable of binding to the plasma membranes of oocytes but fail to proceed to membrane fusion with oocytes (PubMed:33871360, PubMed:35393517)
10,000-fold reduction in virulence in male BALB/c mice (for strain ATCC 14028). Decreased tolerance to acid stress
Knockout in diabetogenic agent streptozotocin-treated mice results in significant cardiac dysfunction which is accompanied by impaired mitochondrial function and increased cardiomyocyte apoptosis
Early embryonic lethality due to cell cycle progression failure, termination of cell division, and, eventually, embryonic death during the preimplantation stage
Reduced leaf cell number associated with pointed leaves shape (PubMed:29375609). Defects in pre-rRNA processing characterized by an increased accumulation of rRNA intermediates containing 50-ETS, ITS1, or ITS2 (PubMed:29375609). Higher levels of 35S, 27SA, 27SB, P-A3, and 18SA3 rRNAs (PubMed:29375609). The double mutant gdp1 oli2 exhibit strong growth defect due to a synergistically impaired cell proliferation in leaves and enlarged cells (PubMed:29375609)
Deletion mutants show complete loss of T4P-dependent motility since they did not assemble T4P (PubMed:18223089, PubMed:28779124). PilB and PilT double mutant also lack T4P-dependent motility (PubMed:26965631)
Knockout mice show a longer time to achieve pregnancy and a reduced litter size as a result of viable knockout embryos (PubMed:28295343). Increase in fibrin deposition throughout the decidua basalis and junctional zones in placentas (PubMed:28295343). Reduced placental vasculogenesis at 9.5dpc and altered vascular organization is evident at 12.5 dpc (PubMed:28295343). Increased collagen deposition in placentas including around the placental labyrinth at 16.5 dpc (PubMed:28295343). Increase in Hif1a expression in placental decidual leukocytes at 9.5 and 12.5 dpc, expression returns to normal by 16.5 dpc (PubMed:28295343). Increase in uterine natural killer cells in the placental decidua basalis throughout gestation (PubMed:28295343). Reduced influx of neutrophils to the airspace after intrapulmonary inoculation with the chemokine Cxcl1 and an increase in interstitial neutrophils in lipopolysaccharide challenged lungs (PubMed:31550239). Increased survival during K.pneumoniae lung infection, as a result of attenuated injury to the alveolocapillary barrier and decreased systemic inflammation (PubMed:31550239). Significant decrease in bacterial burden in the lungs, bloodstream, and spleen 48 hours following K.pneumoniae suggesting enhanced pathogen clearance in the lungs and reduced extrapulmonary dissemination (PubMed:31550239). Increase in surface Cd47 and decrease in surface Icam1 and Itgb3 on alveolar epithelial type 1 cells accompanied by a reduction in the number of lipid rafts (PubMed:31550239). Increase in Cav1 and Cav2 expression in lung tissues (PubMed:31550239)
Mutation within HVO_1886 or HVO_1887 causes nitrate respiration deficiency
Mice display typical phenotypes of primary ciliary dyskinesia, including hydrocephalus, situs inversus, and abnormal motility of trachea cilia and sperm flagella (PubMed:31240264). Strikingly, both males and females are viable and fertile (PubMed:31240264). The 9 + 2 axonemal structures of epithelial multicilia and sperm flagella are normal, but the formation of 9 + 0 nodal cilia is significantly disrupted (PubMed:31240264)
RNAi-mediated knockdown suppresses the slow germline development and the delayed egg-production of clk-1 mutants, but does not affect the rate of postembryonic development
Cause death late in larval development, with defects in cell-cycle progression and chromosome condensation in mitosis
Produces much less aerial hyphae and conidia and shows weakened cell walls and higher sensitivity to cell wall-degrading enzymes (PubMed:15749760). Impairs the formation of appressoria and the ability to infect rice plants (PubMed:15749760, PubMed:23454094)
In mutants defective in enzyme I and histidine-containing phosphate carrier protein (HPr), cells lacking this gene are able to grow on the non-PTS compounds such as glycerol, maltose, melibiose, mannose 6-phosphate, and alpha-glycerol phosphate
No effect on cell growth, membrane protein insertion, protein secretion, or ribosome levels
Adults display increased motor activity during locomotion, fragmented sleep and a decreased lifespan. Walking speed is not effected however flies spend more time moving with slightly fewer pauses resulting in longer uninterrupted bouts of walking. The total duration of sleep is not effected but average sleep bout length is decreased, the number of sleep bouts is increased and the amount of wake after sleep onset (WASO) is also increased. Dopamine levels are decreased by 50%. No effect on flight or climbing (negative geotaxis). RNAi-mediated knockdown in a large subset of dopaminergic neurons also results in fragmented sleep
Mutant is defective in pyocyanine and rhamnolipid production and fails to kill worms efficiently, but can still produce PQS (PubMed:12426334, PubMed:18776012). Deletion mutant produces increased levels of DHQ, resulting from intramolecular cyclization of 2-ABA-CoA (PubMed:25960261)
Impairs autofusarin biosynthesis and leads to the accumulation of the intermediate YWA1 (PubMed:21296881)
Embryos die during preimplantation stages of development, with blastomeres failing to progress past morula stages. Within blastocysts the nucleoli fail to form correctly and the number of ribosomes appears dramatically reduced
Mice are born at slightly less than the expected Mendelian rate. Pups display growth arrest at about 15 days after birth and die five to six weeks after birth. Mice exhibit elevated levels of hydrogen sulfide (H(2)S) in liver, muscle and brain, together with increased urinary levels of ethylmalonic acid and thiosulfate. Their mitochondria show decreased cytochrome c oxidase activity, probably due to the toxic effects of supraphysiological levels of hydrogen sulfide
A double rhsB-rhsIB deletion is outcompeted by wild-type cells, restoration of rhsIB restores normal growth in competition experiments. Restoration of growth requires the RhsB-specific immunity protein, rhsIA does not restore growth
Rapid death within 24 h following birth due to hypoglycaemia
RNAi-mediated knockdown results in extended lifespan in wild type worms and in a glp-1(e2141) mutant background which lacks a germline (PubMed:22212395). Also leads to reduced H3K27me3 levels on metaphase chromosomes (PubMed:26904949). Double RNAi-mediated knockdown together with mes-6 RNAi results in ectopic expression of the homeobox protein egl-5 in the head region (PubMed:17574230). This ectopic expression of egl-5 in the head region is enhanced in a nfya-1 bp4 mutant background (PubMed:17574230). In addition in this background in males, there is ectopic expression of egl-5 in the mid-body region including in seam cells and hypodermal nuclei, and there is ectopic ray formation (PubMed:17574230)
Reduced virulence
Male sterile that lacks pollen and undergoes an aberrant male meiosis resulting in the formation of two uni- to tri-nucleate cells instead of a normal tetrad, accompanied by aberrant chromosomal organization from diplotene followed by metaphase 1 arrest. After, male meiocytes exhibit signs of apoptosis, including defects in chromosome behavior, cytoplasmic shrinkage, and chromatin fragmentation, followed by cell death before cytokinesis. Reduced expression of several condensin genes in meiocytes leading to defective meiotic chromosome condensation in male meiocytes (PubMed:27385818, PubMed:32572214). Increased H3K9me3 levels specifically in male meiocytes leading to greater number of down-regulated than up-regulated genes (PubMed:32572214)
A complete loss of mitochondrial respiratory chain complex III resulting in severe growth retardation, lactic acidosis and early death
Defect in growth and glutamate biosynthesis under non-photorespiratory conditions
Decreases DNA double-strand break formation during meiosis and meiotic gene conversion at ade6 (PubMed:31665745). Decreases localization of rec15 and rec10 to DNA double strand break (DSB) hotspots, and decreases localization of rec15 to chromosomal axis sites (PubMed:31665745). Abnormal sporulation (PubMed:33825974)
Leads to a slight growth defect at 30 degrees Celsius and marked defect at 37 degrees Celsius (PubMed:34566931). Leads to abnormal cell morphology of enlarged cells with collapsed cell walls and increased chitin within the cell walls, as well as strong growth defects at both 30 and 37 degrees Celsius when both DNJ1 and CNE1 are deleted (PubMed:34566931)
Embryo lethality at midgestation with defects in vascular remodeling
Enlarged thyroid follicles, reduced extension of the thyroid epithelium and increased levels of Tg/thyroglobulin in the thyroid follicles. Lysosomes are enlarged and CTSB/cathepsin B is mis-localized to the apical membrane of thyroid epithelial cells. Serum levels of thyroid hormone thyroxine (T4) are reduced. The phenotype is more severe in CTSK/cathepsin K and CTSL double knockout mice (PubMed:12782676). Mutants possess reduced levels of Met-enkephalin in brain (PubMed:12869695). Mice show impaired CD4(+) T cell selection (PubMed:12021314). They have reduced numbers of CD4(+) T cells in the thymus and periphery and CD8(+) T cells relatively increased (PubMed:9545226). One-year-old mutant mice show ventricular and atrial enlargement associated with a comparatively small increase in relative heart weight and severely impaired myocardial contraction. They show interstitial fibrosis and pleomorphic nuclei (PubMed:11972068). Cardiomyocytes contain multiple large and apparently fused lysosomes characterized by storage of electron-dense heterogeneous material (PubMed:11972068). Mutants have delayed hair follicle morphogenesis and late onset of the first catagen stage. Their skin show mild epidermal hyperplasia and hyperkeratosis, severe hyperplasia of the sebaceous glands, and structural alterations of hair follicles (PubMed:12163394)
Failure of pollen germination
Derepression of pathogenicity island 2 (SPI-2) which is usually repressed in culture; effect is slightly higher in double hha-ydgT deletions (PubMed:17307861). Double hha-ydgT deletion mutants lead to deregulation of many genes at least 2-fold, most of which are also deregulated in an hns deletion, suggesting there are a large number of hns-regulated genes whose expression is also modulated by Hha and/or YdgT (PubMed:19521501). Upon infection of C57BL/6 mice a single hha mutant has 10-100-fold reduced virulence compared to wild-type, while a double hha-ydgT deletion is 6 orders of magnitude less virulent (PubMed:17307861)
Abolishes the production of nigerpyrone, carbonarone A and pestalamide A
Plants exhibit an enhanced sensitivity to cadmium, dwarfism and chlorosis, with an altered morphology of leaf and cell nuclei. Mitochondria accumulate nonheme, nonprotein iron. Decreased levels of molybdenum cofactor (MOCO) and reduced activities of cytosolic Fe-S proteins. Reduced ability to produce abscisic acid under normal conditions and in response to drought stress. Male sterility when homozygous
Significantly attenuates virulence toward rice leaves by affecting appressorial penetration and infectious hyphal growth (PubMed:30776962). Impairs the acetylation of ATG3 during germination and weakens the interaction between ATG3 and ATG8 (PubMed:30776962). Abolishes also the acetylation of ATG9 and thus impairs the ATG9 binding ability to vesicles during nutrient starvation induction (PubMed:30776962)
Loses ability to bind apoptotic cells and results in reduced ability of cell corpse engulfment
Not essential, a quadruple raiA-hpf-rmf-sra knockout strain is significantly outcompeted by wild-type after 4 days growth (PubMed:17277072)
Increased number of lateral roots and wider stem diameter. Altered cell wall composition with an increased level of de-esterified pectins
Deletion mutant cannot grow aerobically in minimal media, is extremely sensitive to oxidative stress and shows morphologic defects that are associated with deficient septum formation (PubMed:12783863). In addition, mutant displays increased levels of internal peroxides and increased protein carbonyl content (PubMed:12783863). Both acetaldehyde dehydrogenase and alcohol dehydrogenase activities are thermolabile in temperature-sensitive mutants (PubMed:6752127)
Reduced levels of complex I and supercomplex I + III(2) in mitochondrion. Reduced growth rates and respiration of suspension cell culture
The double mutant gapc1 gapc2 has an impaired ability to enhance heat tolerance of seedlings and to promote the expression of heat-inducible genes
Does not nodulate the roots of pea plants
Severe bleaching phenotype concomitant with negligible levels of chlorophylls and glycolipids. The levels of alanine, glycine, tryptophan, and arginine, as well as those for glycerophospholipids were highly impacted in the mutant under anaerobic conditions
No effect on the levels of ICN metabolites
Lacks seed-specific neolignans such as 3-{4-[2-hydroxy-2-(4-hexosyloxy- 3-methoxyphenyl)-1-hydroxymethylethoxy]-3,5-di-methoxyphenyl}acryloylcholine
No visible effect on resistance to oxidizing agents, proton motive force-damaging agents, membrane or cell wall stress. Improved resistance to ampicillin, enhanced swimming ability
RNAi-mediated knockdown causes a severe reduction in the number of laid eggs
Neurological defects, characterized by behavioral disorders, including increased activity, disorientation, and aggressiveness (PubMed:30526862). Impaired pseudouridylation oF tRNAS (PubMed:30526862)
Animals deficient in HYL-2 show inability to adapt to oxygen deprivation as a result from the loss of ceramide synthase function
Cells lacking this gene have an absolute requirement for the thiazole alcohol for growth
RNAi-mediated knockdown causes a severe reduction in the number of laid eggs; the few laid eggs fail to hatch
Reduced methylation of the C(5) position of cytosine 2268 (m5C2268) in 25S rRNA
Morpholino knockdown impairs myocyte fusion during myogenesis
Abolishes the biosynthesis of communesin B and leads to the accumulation of communesins F, J and K
Wavy root hair phenotype
Increase in relative abundance of 3-OH C10 in lipid A. The most abundant ion detected in lipid A structure contains the addition of a 3-OH C10 acyl chain and a second phosphate group compared to the most abundant ion observed from wild-type lipid A
Disruption of the gene results in strongly attenuated virulence in both mouse and guinea pig models of infection (PubMed:19651859, PubMed:21911592). Disruption leads to a delayed initiation of dissemination but similar kinetics of subsequent spread of the bacilli (PubMed:21911592). The mutant cannot grow on heme iron as sole iron source (PubMed:21911592). Disruption alters the expression of more than 200 genes, including the toxin genes (PubMed:19651859). It also causes a decrease in AtxA protein accumulation but it does not affect its transcription or its translation (PubMed:19651859). It does not affect either ex vivo or in vivo capsulation (PubMed:21911592)
Loss of DNA conjugation when disrupted in recipient strain (MKD8), no effect when disrupted in donor strain (mc(2)155) (PubMed:18554329). The recipient strain does not secrete EsxB (PubMed:18554329)
Cells lacking this gene do not grow in minimal medium containing either arginine or ornithine as sole nitrogen source
Depletion causes a morphological change in which one end of the cell becomes round rather than rod-shaped. This phenotype is caused by the absence or dispersal of peptidoglycan synthesis
Embryos develop and hatch normally but fail to outlive early larval stages. During the first and second instar larval stages larvae become immobile and sluggish and die without any observable defects. Lethality is probably the result of additive defects in overall cell proliferation rather than of distinct developmental disorders
Lack of stomata in stem, hypocotyl and on the adaxial side of the sepal. By contrast, cotyledons, anthers and abaxial side of the sepal have excess stomata, with many in direct contact and producing clusters. Altered responses to abscisic acid (ABA) (PubMed:18434605, PubMed:24553751). Enhanced susceptibility to the necrotrophic fungus Plectosphaerella cucumerina BMM (PcBMM) (PubMed:27446127)
RNAi-mediated knockdown in sugar gustatory neurons results in reduced sucrose response and no alteration in response to water (PubMed:19046378). RNAi-mediated knockdown in the pacemaker dorsal lateral neurons (LNDs) results in reduced Pigment-dispersing factor (Pdf) response in the circadian brain neurons evening cells (E-cells) (PubMed:23929551). Isoform B: Results in reduced sucrose and trehalose substances response and no alteration of water response or bitter perception (PubMed:19046378)
Mutants have normal number of pups per litter, body weight, testis weight and daily sperm production (PubMed:31672133). Mutant sperm have a significantly reduced ability to undergo the progesterone-induced acrosome reaction compared to wild type (PubMed:31672133)
Early arrest in larval development. Impaired guided migration of sex myoblasts (PubMed:7585964). RNAi-mediated knockdown causes ectopic membrane extension from body wall muscles (PubMed:16495308)
Displays a lethal photorespiratory phenotype when grown at ambient carbon dioxide
Worms lacking ttx-7 display defects in thermotaxis behavior and localization of synaptic proteins in RIA neurons yet appear morphologically normal
SBF2/MTMR13 protein levels are decreased in sciatic nerves but not in the brain or in fibroblasts
Cells undergo an apoptotic-like death upon DNA damage characterized by membrane depolarization; further disruption of recA prevents membrane depolarization
Severely impairs the hyphae growth and conidiation at high level glycine betaine (PubMed:31061132). Exhibits a choline-auxotroph character, when the phosphatidylethanolamine N-methyltransferase choA is also deleted (PubMed:31061132)
Essential for growth on nonfermentable carbon sources and for biosynthesis of glutamate. Causes a dramatic increase in cellular citrate levels
Leads to lower ferrichrome (FC) uptake activity, which is reduced to approximately 60% of the wild-type activity (PubMed:26929401)
No visible phenotype under normal growth conditions, but the mutant plants accumulate decreased amount of starch during the day
RNAi-mediated knockdown almost completely abolishes induction of nlp-29 expression upon infection with Drechmeria coniospora, or upon injury, or in response to phorbol ester PMA
Cells lacking this gene are unable to produce both validoxylamine A and validamycin A
Loss of mitochondrial manganese superoxide dismutase SOD2 activity due to misincorporation of iron into SOD2 rather than manganese. Normal SOD2 activity when in association with YFH1 deletion. Doesn't impair activity of a cytosolic version of manganese SOD. The iron regulatory transcription factor AFT1 is constitutively active. Accumulates mtDNA mutations. Elevated mitochondrial iron and manganese levels
Death in the immediate postnatal period due to difficulty in breathing. Mice rapidly become cyanotic and die within 15 min of birth. New-born homozygous show severe inward bending of forelimbs and hindlimbs. They develop a normal cartilage skeleton but fail to form bone and to express osteoblast-specific marker genes. In endochondral skeletal elements, mesenchymal cells together with osteoclasts and blood vessels, invade the mineralized cartilage matrix
Loss of conjugative DNA transfer
Cells lacking this gene produce significantly more unsaturated fatty acids than wild-type. The ratio of unsaturated fatty acids to saturated fatty acids in wild-type is 0.76, whereas in the fabV mutant this ratio is increased to 1.12. The major unsaturated fatty acid is the C16:1. When triclosan is added to the reaction mixture, the reductase activity decreases to 15% of the untreated wild-type
RNAi-mediated knockdown in muscles causes 91 percent lethality at the early pupal stage and the few surviving animals cannot fly. Severe defects in the indirect flight muscle structure characterized by narrower and wavy myofibrils and abnormal positioning of sarcomere Z line, M line and H line. Although the spacing between Z line and M lines stays regular, in less affected myobrils Z lines and M lines appear fragmented, Z lines are diffused at the edges and sarcomere length is shorter. In the more affected myofibrils, rudimentary Z lines are shifted into the region of thick and thin filament overlap and are by-passed by abnormally long filaments and H zones fail to localize to the middle of the sarcomere. Localization of unc-89/obscurin to M lines and localization of kettin (sls isoform A) to Z line is not affected
Completely abolishes the production of pestalotiollide B and significantly decreases the growth rate (PubMed:31474098). Reduces the expresssion of 43 of 48 PKS genes present in Pestalotiopsis microspora (PubMed:35114496)
Absence of EpsM results in a decreased amount of EpsL in type II secretion system complexes
The pi21 allele confers an improved non-race-specific blast resistance toward Magnaporthe oryzae
Die within the first 24 h of postnatal life from profound defects in kidney and/or gut formation. They are anuric (no measurable urine in the bladder), and fail to generate the extensive interdigitated foot process and instead retain cell junctions between immature podocytes
Mutants have a competitive defect in colonization of mouse spleen
Growth defect
Defective forwards locomotion whereby sustained long foraging forwards movements are replaced with shortened forwards runs, more frequent pauses and reversals
Short siliques and low fertility due to defect in meiosis
No morphological phenotype, but high accumulation of 5-oxoproline and decreased concentration of glutamate
Mutation leads to a prolonged survival of infected mice. Deletion blocks Sifs formation at an intermediate stage, before fusion of late endosome compartments with the SCV, and impairs bacterial replication in mouse macrophages but not in human epithelial cells
Significantly impaired for growth on 1,2-PD/CN-B12, loss of propionaldehyde dehydrogenase activity (PubMed:14504694). Releases decreased amounts of acetaldehyde when grown on propanediol (PubMed:16585748)
Alters culture pigmentation and leads to defects in cell wall integrity, adhesion to hydrophobic surfaces, and topical infection of insects
Abolishes the biosynthesis of communesins A and B and leads to the accumulation of communesin I, a non-acylated version of communesins A and B
Mutants are viable but developmentally delayed. They have bubble-shaped invaginations of the apical membrane into the cytoplasm of intestinal cells and abnormal aggregations of the subapical intermediate filament (IF) network
Defective in root hair expansion (PubMed:20562230). Mutant plants are resistant to the inhibitory effect of intermediate levels of indole-3-butyric acid (IBA) and 2,4-DB on root elongation (PubMed:18725356)
No gas vesicles are made
Slight reduction in size, early flowering and increased chlorosis in older leaves. Accumulation of GSSG in the apoplastic space
Cells show morphological abnormalities such as branching and swelling forms. It does not grow in RPMI-1640 with or without 10% FBS. It shows decreased growth until 48 hours in RPMI-1640 and stationary growth until 48 hours in RPMI-1640 with 10% FBS. It has the same ability as the wild-type to internalize at 0 minute but a lower rate of internalization at 30 minutes. It shows a lower rate of intracellular replication within macrophages than the wild-type. Its adherence is four times higher than that of the wild-type. It shows lower MICs than the wild-type for several antimicrobial agents such as penicillin G, methicillin, erythromycin and doxycycline. At ten days post infection the number of viable bacteria (disruption mutant) is markedly reduced compared to the wild-type
Mutant flies show life span extension and increased activity. Heterozygous mutants show increased ratios of AMP:ATP (3 to 4-fold) and ADP:ATP (2-fold), also observed in response to caloric restriction, and associated with life span extension phenotypes in yeast and worms
Knockout causes a nearly wild-type phenotype, but a few young larvae have morphological abnormalities (PubMed:18794349). In a flh-1 mutant background, L1 larvae have severe morphological abnormalities and/or appear necrotic, and 100% die before reaching the L2 larval stage (PubMed:18794349). Embryos exhibit significantly lower expression of lin-14, and overexpression of micro-RNAs, including lin-4, mir-48, mir-241, and mir-34 (PubMed:18794349). In a flh-3 mutant background, embryos exhibit significant overexpression of micro-RNAs, including lin-4, mir-48, mir-230, and mir-65 (PubMed:18794349). RNAi-mediated knockdown has no obvious phenotype, but causes precocious embryonic expression of micro-RNA lin-4, when combined with simultaneous RNAi-mediated knockdown of flh-1 (PubMed:18794349)
Mice die in utero 8.5 to 9.5 dpc due to severe defects in their vasculature: embryos show neural tube defects, mesenchymal cell death, and vascular abnormalities. Extraembryonic development is also severely affected; the mutant placentas exhibit defective labyrinth layer development and the fetal vessels fail to invade the placenta. Male mice specifically lacking isoform 2 are sterile (PubMed:18774945). A specifically deletion in liver results in hyperglycemia with increased gluconeogenic and lipogenic gene expression due to loss of AMPK phosphorylation and subsequent dephosphorylation of CRTC2/TORC2 (PubMed:16308421). Use of a conditional allele, leads to defects in defects in axon formation with a thinner cortical wall and larger lateral ventricles in the brain cortex (PubMed:17482548). Heterozygous mice develop multiple gastric adenomatous polyps, with polyps remarkably similar to hamartomas of PJS patients both macroscopically and histologically. Polyps in the heterozygous mice are detected at 5 months, and cause premature lethality progressively from 8 months onwards. Polyps are most frequently observed in the stomach where they typically concentrate close to the pylorus. Polyps in the small and large intestine are significantly less frequent. The histology of the polyps in the heterozygous mice is remarkably similar to PJS polyps including the relative contribution of well-differentiated epithelium, and a prominent smooth muscle component. Ptgs2/Cox2 is highly up-regulated in heterozygous mice polyps concomitantly with activation of the extracellular signal-regulated kinases Mapk1/Erk2 and Mapk3/Erk1: treatment with celecoxib Ptgs2/Cox2 inhibitor significantly reduces the total polyp burden
Accumulation of upstream metabolites, such as salutaridine, but reduced production of morphine
Knockout mice show no significant differences in heart size or function
Morpholino knockdown results in a range of cardiac phenotype severity from mild to severely affected (PubMed:23124967). Defects include slight to severe cardiac edema, blood pooling on the yolk, abnormal ventricles, heartstring and failure of cardiac looping (PubMed:23124967). Heart rate is decreased at 48 hours post-fertilization (48 hpf) from 138 beats per minute (bpm) to 110 (bpm), this decrease persists at 72 hpf (PubMed:23124967). Non-cardiac effects include kinked tail and disruption to the borders of anterior neural structures (PubMed:23124967). At 16 hpf abnormal expression and/or localization of cardiac precursor markers such as nkx2.5, lefty2, bmp4, spaw, lefty1 and tdgf1/oep (PubMed:23124967). Incomplete looping of the heart with displaced ventricle along the midline, above an enlarged atrium (PubMed:23124967). Expression of cardiac valve developmental proteins notch1b and bmp4 are abnormally expanded into the ventricle at 48 hpf (PubMed:23124967). The number of desmosomes is decreased at cell borders in the heart but those that are present show diminished intracellular elements and an increase in the intercellular gap width at 72 hpf (PubMed:23124967)
Not required for sporulation or for chromosome partioning
Exhibits defects in mycelial growth and production of conidia, and consequently fails to cause disease in rice and barley. Shows impairment in autophagy, breached cell wall integrity, and higher sensitivity to both calcium and heavy metal stress
The number of knockout embryos is obtained at the expected rate. Knockout embryos show microcephaly, neuronal cell death and early lethality. At 2 days post fertilization (dpf), forebrains in knockout animals exhibit higher amounts of apoptotic cells than control embryos. The head size is significantly smaller compared to sibling embryos of the same batch. From 3 dpf onwards, mutant embryos show markedly smaller eyes and prominent pericardiac edema. At 3 dpf, mutant embryos show twitching movements, reminiscent of epileptic seizures. In the brain, empty spaces, indicative of neurodegeneration, are apparent. Cartilage structures of the lower jaw (Meckels' cartilage) are absent in the mutant larvae. Severe underdevelopment of the eyes is prominent. The eyes of mutant embryos are smaller, have an irregular shape and only show the retinal pigmented epithelium (RPE) and photoreceptorlayer (PRL), whereas the other 4 layers are absent. From 4 dpf onwards, mutant embryos develop prominent edema of the brain and around the intestine. At 5 dpf, more than 40% of mutant embryos die
No gross abnormalities with normal lifespan but mutants display reduced exploration, locomotion and olfactory sensitivity, reduced amplitude of the first negative wave in the visual evoked potential test, abnormal motor coordination, anxiety-related behavior and changes in AMPAR complex composition
Lethality around embryonic day 9 (E9). Conditional knockout in the central nervous system does not lead to any visible phenotype until mice reach 10-11 months of age: then mice become lethargic, lose motor control and have difficulty maintaining balance. Defects cause loss of other complex I subunits and reduced NADH dehydrogenase activity
Morpholino knockdown results in reduced caspa activity and impairs caspa activity in response to bacterial infection with S.typhimurium (PubMed:29123523). In addition, larvae have increased susceptibility to the bacterium S.typhimurium (PubMed:29123523)
Leads to slower germination, lower hydrophobivity and lower virulence of conidia (PubMed:26243054)
No visible phenotype, even under low-oxygen growth conditions, nor in aerosol-infected B6D2/F1 mice
Mice deficient for Slc27a1 are viable and do not display overt developmental phenotype or alteration in whole-body adiposity. However, they are protected from fat-induced accumulation of intramuscular fatty acyl-CoA and insulin resistance in skeletal muscle
Plants are highly sensitive to Cd (20- to 40-fold) and AsO(4)(3-) ions, sensitive (eightfold) to Ag ions, slightly sensitive (twofold) to Cu and Hg ions, and insensitive to Zn, SeO(3)(2-) and Ni ions
Basal shift of ARAC3/ROP6 and ARAC4/ROP2 positioning in root hair-forming cells leading to basal shift of root hair positions
In er-104 and er-105, small curly leaves and compact inflorescence with short thick siliques, increased canalization of rosette leaf number during long days
Cells lacking this gene show lysine auxotrophy, which can be complemented with alpha-aminoadipate but not with diaminopimelate
Impairs avoiding N,N-Diethyl-meta-toluamide (DEET). Leads to high male courtship toward males and mated females. Also leads to diminished aggression level of males
Severely decreases intracellular trehalose during growth on trehalose carbon source (PubMed:10368160). Decreases growth on trehalose carbon source, simultaneous disruption of ATH1 abolishes growth on trehalose carbon source (PubMed:15128531)
Superficially wild-type, with a normal brood size, but drastic reduction in brood size when grown at a permissive temperature of 20 degrees Celsius in an mpk-1 mutant background. Double mutant mpk-1;pzf-1 shows meiotic chromosome non-disjunction, increased embryonic lethality and also an abnormal male:hermaphrodite ratio, at 23 degrees Celsius
RNAi-mediated knockdown results in embryonic lethality (PubMed:14560015, PubMed:12827206, PubMed:12808038, PubMed:16802858). RNAi-mediated knockdown from early in larval development results in sterile, uncoordinated (Unc), and protruding vulva phenotypes, in abnormal embryonic cell nuclei morphology and in defects in the mitotic and meiotic cells of gonads (PubMed:14499625, PubMed:14560015). RNAi-mediated knockdown results in somatic gonad cell division defects with a reduced number of pi uterine cells at the early- to mid-L4 larval stage (PubMed:14560015). RNAi-mediated knockdown results in chromosome segregation defects in early embryos with lagging chromosomes at the anaphase phase of mitosis (PubMed:14499625, PubMed:12808038, PubMed:16802858). RNAi-mediated knockdown results in defective homologous alignment of chromosomes and chromosome cohesion in meiosis (PubMed:14499625)
Highly sensitive to cyanide, but retains virulence on sorghum
Significant but transient reduction in fatty acid concentration in developing seeds. Slight delay in embryo development
Does not affect vegetative growth, conidiation, conidial germination, nor appressorium formation, but leads to significantly reduced virulence to rice
Dwarf plants; smaller aerial organs and wider roots because of abnormal diffuse cell growth. Abnormal cell expansion that is greatest in the root cortex cell layer and is independent of the root growth rate, and that leads to a shift in the orientation of expansion (PubMed:7867930, PubMed:8275864). Sterility due to female organ anomalies (PubMed:8275864, PubMed:14675453). Enhanced responses to Pi starvation (PubMed:22615140)
Cells lacking this gene show no phenotype during growth on propionate, acetate, succinate, glycerol and glucose. The acnAB double mutant does not grow on propionate even when supplemented with glutamate and is unable to respire propionate under anaerobic growth conditions
Strains lacking this gene show no difference in colony morphology and no differences in levels of phosphatidylinosotol mannosides (PIMs), lipomannan (LM), lipoarabinomannan (LAM) or mycothiol (in the absence of exogenous inositol)
Lethal; most flies die by the pupal stages (PubMed:26715182). Escapers are small, less active, display a significantly reduced fecundity, shortened lifespan, increased resistance to oxidative stress, up-regulation of the JNK signaling pathway and increased expression of Jafrac1 and GstD1 (PubMed:26715182). Simultaneous knockout of Jafrac1 restores normal sensitivity to oxidative stress (PubMed:26715182). RNAi-mediated knockdown leads to higher tolerance to oxidative stress (PubMed:26715182)
Overexpression inhibits the Nedd8 conjugation pathway, disrupts the normal bristle pattern in the fly thorax, and induces apoptosis in wing imaginal disks
Abolished dimer production and leads to the accumulation of the monomer intermediate hemi-cryptosporioptide
Leads to sensitivity to caspofungin and affects expression of many genes including caspofungin-responsive genes. Results in hyphal defect during C.elegans infection and exhibits attenuated virulence in flies and mice models for candidiasis
A flgE mutant is attenuated in a murine model of infection. Four weeks after infection, the number of cfu per spleen from mice infected with the mutant is significantly lower than the number from mice infected with the wild-type
Cells lacking TTLL3A, TTLL3B, TTLL3C, TTLL3D, TTLL3E and TTLL3F display shortened axonemes that are resistant to paclitaxel, indicating that tubulin glycylation changes the lattice properties of axonemal microtubules. Axonemes are however normal at the ultrastructural level
Interveinal chlorotic and premature necrotic leaves. Bleached leaf phenotype when grown under ambient air, but normal growth under CO(2)-enriched air
Embryonic lethality in 40% of animals, reduced brood size and high incidence of males phenotypes (PubMed:34252074). Presence of a mix of univalent and bivalent chromosomes during diakinesis, impaired double strand breaks and chiasma formation and defective chromosome segregation (PubMed:34252074). Delayed double break strand repair with an accumulation of rad-51-positive foci in early/mid pachynema in meiotic prophase I during meiotic recombination (PubMed:34252074). Delayed accumulation of cosa-1-positive and msh-5-positive foci at recombination foci (composed of crossover and non-crossover DNA intermediates) in late pachynema indicative of a decreased efficiency in crossover designation (PubMed:34252074). Increased number of crossover events and impaired positioning of crossovers on chromosome arms during homologous recombination (PubMed:34252074). Animals have an extended mitotic zone (PubMed:34252074). Abolishes localization of rmh-1 to nuclear foci, and instead rmh-1 is localized in the cytoplasm (PubMed:34252074). Impairs the localization of him-6 to nuclear foci during pachynema (PubMed:34252074)
Decreased growth in ambient air, wild-type growth on 3% CO(2). In ambient air about 30% decreased levels of RuBisCO, decreased CO(2) fixation by whole cells. Carboxysome formation is impaired; many small, irregular electron-dense structures are present instead of the 3-4 large carboxysomes usually found in this strain, the ratio of CcmM58:CcmM35 (involved in condensing RuBisCO) rises over 3-fold. A double raf1-rbcX deletion partially recovers carboxysome formation
DNA hypermethylation (at CpG, CpNpG and CpNpN sites, N is A, T or C) leading to increased siRNA-mediated transcriptional gene silencing (TGS) (PubMed:18815596). Narrow and slightly lobed second and third pairs of true leaves (PubMed:18815596). Disrupted ROS1 subcellular localization in the nucleolus (PubMed:18815596)
Cells lacking this gene are unable to produce bacteriochlorophyll e (BChl e), accumulate bacteriochlorophyll c (BChl c) and are green in color instead of the characteristic brownish color (PubMed:23560066, PubMed:27994052). The mutant also has a novel homolog containing a triple 8-methylated neopentyl substituent at the 8-position (PubMed:24496988)
Leads to a significant decrease in the production of phomasetin
Mice die 4 to 5 days post-fertilization, just after implantation, suggesting that protein function and N-glycosylation are essential in early embryogenesis
Several floral development defects, including delayed flowering, reduced sepaloid petals and short stamens. Male gametophytic lethal
Deletion of the gene severely reduces hydrogenase 1 and hydrogenase 2 activity (PubMed:12081959). HypA-hybF double mutant is completely blocked in maturation of hydrogenases 1, 2 and 3. However, the inclusion of high nickel concentrations in the medium can restore limited activity of all three hydrogenases (PubMed:12081959)
Severe alopecia during the first week postbirth, correlating with hair fragility, alterations in follicular histology, and apoptosis in matrix cells
No visible phenotype when grown under normal conditions. Reduced growth on low-nitrate media
Mutants are defective in diacylglyceryl modification of prolipoprotein
Presence in early embryos of an opaque substance in the posterior yolk cell extension at approximately 1 day after fertilization. This material progressively accumulates and by 48 hours after fertilization fills the entire yolk. By day 3 of embryogenesis, embryos are severely reduced in size compared with their wild-type siblings and they die a few hours later
Blocks the expression of the cercosporin cluster and abolishes the production of cercosporin
RNAi-mediated knock-down is embryonic lethal and results in aberrant chromosome segregation during mitosis. RNAi-mediated knockdown at 20 degrees Celsius results in the mis-localization of lab-1 in germ line nuclei (PubMed:22927794)
No visible phenotype under normal growth conditions, but mutant plants have increased sensitivity to excess of copper
Viable and fertile (PubMed:16598258). Mutant embryos and adults display normal foregut left-right asymmetry, but inverted left-right asymmetry of the midgut and hindgut (PubMed:16598258, PubMed:18521948). RNAi-mediated knockdown in the hindgut at 0 to 24 hours after pupation leads to inverted left-right asymmetry of the adult hindgut, but knockdown at later stages has little or no effect (PubMed:16598258, PubMed:26073018). Adults display inverted left-right asymmetry of the male genitalia (PubMed:16598258). RNAi-mediated knockdown in the anterior and the posterior part of segment A8 of the male genital disk causes loss of the normal dextral rotation of the genital plate and inverted, sinistral spermiduct looping (PubMed:16598259, PubMed:26073018). Selective RNAi-mediated down-regulation in the anterior part of segment A8 of the male genital disk leads to partial dextral rotation of the genitalia, while RNAi-mediated down-regulation in the posterior part of segment A8 leads to non-rotated genitalia (PubMed:16598259). Combined RNAi-mediated knockdown of both ds and Myo31DF in the H1 segment of the imaginal ring causes mislooping of the adult hindgut (PubMed:26073018)
Dwarf, narrow leaf, low tillering, late heading and low fertility phenotypes
Open glumes after anthesis associated with a delayed cell degradation process of the lodicules (PubMed:29177846). Reduced grain filling (PubMed:29177846)
Increases sensitivity to osmotic and oxidative stresses, but also to cell wall-damaging agents such as Congo red or iprodione (PubMed:27706915). Shows increased resistance to low caspofungin concentrations, but is more sensitive to higher caspofungin concentrations (PubMed:27706915). Leads to attenuated virulence (PubMed:27706915)
No changes in the primary root length, but shorter root hairs. Increased sensitivity to latrunculin B (LatB) and instability of actin filaments
The phenotype of disruption mutants is pet, showing that complementation by another adenylate kinase isozyme occurs only under fermentative conditions. The disruption completely destroys the activity in mitochondria, whereas in the cytoplasmic fraction about 10% is retained
Dicreases the production of 11'-deoxyverticillin A
Impairs growth with propionate as the sole carbon and energy source
Null mice display greater thermal hyperalgesia (pain sensitivity) and mechanical allodynia. No thiamine monophosphatase (TMPase) activity detected in dorsal root ganglion (DRG) neurons
No visible phenotype under normal growth conditions. Pollen grains from the double mutant agl66 and agl104 have severely reduced viability, delayed germination and aberrant pollen tube growth
Embryonic lethality, due to the arrest of embryo development at the globular stage
viable but sterile. The mushroom body (MB), a functional center for learning and memory, exhibits abnormally thin axonal lobes. In neuroblasts, the nucleolus is packed more tightly, forming a dense sphere, and the nucleolar proteins such as fibrillarin and Nop60B are abnormally distributed in the interphase nucleolus
Can use ethanolamine (EA) as a nitrogen source when AdoCbl but not cyano-B12 or hydroxy-B12 is provided; cannot use EA as a carbon source (PubMed:2656649, PubMed:15516577). Required for aerobic growth on ethanolamine supplemented with cobalamin (vitamin B12) (PubMed:10464203). A non-polar deletion mutant does not grow on EA between pH 5.5 and pH 8.5 (PubMed:16585748)
In knockout mice, colon epithelium shows absence of glycylation, a reduced number of primary cilia accompanied by an increased rate of cell division (PubMed:25180231). Knockout mice show no visible motile ependymal cilia phenotype (PubMed:23897886). Simultaneous TTLL3 and TTLL8 knockout mice are subfertile owing to aberrant beat patterns of their sperm flagella, which impeded the straight swimming of sperm cells (PubMed:33414192). Simultaneous TTLL3 and TTLL8 knockout mice show no visible motile ependymal cilia phenotype in brain ventricles (PubMed:33414192)
Impaired catalase activity in leaves. Accumulation of hydrogen peroxide (H(2)O(2)) in leaves, which consequently promotes nitric oxide (NO) production via the activation of nitrate reductase, thus leading to subsequent NO-mediated leaf cell death, as well as increased S-nitrosylation of specific proteins including glyceraldehyde 3-phosphate dehydrogenase and thioredoxin (PubMed:22106097, PubMed:23331502). Leaf bleaching and cell death; these phenotypes are reversed by melatonin treatment (PubMed:25912474). Increased tolerance to zinc oxide nanoparticles (ZnO NPs) (PubMed:25958266)
No visible phenotype (PubMed:19737747, PubMed:22829780). No defect in the positioning of ASI and ASH neuron cell bodies (PubMed:22829780). No defect in the positioning of PQV, PVP, RMEV, HSN adn AVK axons in the ventral nerve cord (PubMed:19737747)
Increases sensitivity to H(2)O(2) and decreases activation of YAP1-dependent gene expression
Strong variations in phenotypes, probably depending on the strain background used in the different experiments. According to a first report done in a C57BL/6 background, mice show intra-uterine growth retardation leading to embryonic and perinatal lethality (PubMed:15192078). A lethal phenotype was confirmed by other groups. In some cases however, few mice survive until adulthood. Mice that survive show wide spectrum of anterior segment dysgenesis phenotypes, including microphthalmia, iris hypoplasia, irdiocorneal angle malformation, cornea dysgenesis and cataract (PubMed:18424556). Defects in osteoblast differentiation and mineralization during embryonic bone formation are also observed. Postnatal mice that survive show defects in bone remodeling (PubMed:19605502). According to other reports done in other strain backgrounds, mice do not die and display defects in the male reproductive tract during the postnatal period (PubMed:16406039, PubMed:17079737, PubMed:23533175). Mice also show small kidneys, in which the total number and density of the glomeruli are decreased (PubMed:16785743). The use of conditional knockouts, leads to defects in hair placode formation, possibly due to reduced keratinocyte migration (PubMed:17079737, PubMed:17850793). Decrease in epithelial cell proliferation and strong reduction in terminal differentiation of Paneth cells in postnatal intestinal crypts (PubMed:21508962, PubMed:23393138). Fetuses display transient anemia during midgestation and abnormal definitive erythropoiesis (PubMed:18955481). Mice are also more susceptible and have much higher mortality to lipopolysaccharide (LPS) stimulation due to over-activated innate immune response (PubMed:23589304). Conditional knockout of both Lgr4 and Lgr5 in the gut results in Wnt signaling inhibition and results in the rapid demise of intestinal crypts (PubMed:21727895). Simultaneous knockdown of LGR4, LGR5 and LGR6 results in developmental phenotypes, such as cleft palate and ankyloglossia, but not in tetra-amelia with lung agenesis (PubMed:29769720)
Induction of the PhoP/PhoQ two-component regulatory system
Flies exhibit more sinuous tracheal branches and uneven lumen with numerous breaks in the dorsal and lateral branches
Increased levels of RHOA. N ochange in brain size or neural progenitor cell proliferation is observed
Plants produce threefold the number of leaves, and leaf size and plant height are strongly reduced compared to wild-type. Shoot apical meristem (SAM) shows a higher rate of cell division and internode elongation is significantly reduced. Some inflorescence branches are converted into vegetative shoots
RNAi-mediated knockdown leads to disorganized muscle dense bodies and abnormal muscle-muscle cell boundaries. Accumulation of unc-95 in the muscle cell bodies
Loss of posterior body wall muscle contractions (pBoc)
Increased prenatal and postnatal mortality, growth retardation, and multiple tissue abnormalities (PubMed:24752297). B-cell development is slightly impaired, without affecting B-cell function (PubMed:24752297). Mice however show a cell-autonomous early block in thymocyte development and impairs peripheral T-cell expansion and function (PubMed:24752297). Conditional deletion in germ cells leads to abnormal sperm and male infertility: the cytoplasm of late spermatids appears swollen, preventing reduction of the cytoplasm during further development into spermatozoa (PubMed:29880644, PubMed:30135305). Spermatozoa display severely disorganized mitochondrial sheaths in the midpiece region, as well as angulated or coiled flagella, resulting in dramatically reduced sperm motility (PubMed:29880644). Conditional deletion in Sertoli cells does not affect male fertility (PubMed:29880644). Conditional deletion in pancreatic beta cells have normal resting serum glucose levels but impaired glucose tolerance (PubMed:29371604, PubMed:29773801). Conditional deletion in myotubes leads to impaired myoblast differentiation: mice have smaller myofibers, generate less force ex vivo, and display reduced exercise endurance, associated with increased adiposity under basal conditions, and glucose intolerance and insulin resistance when raised on a high-fat diet (PubMed:32930093)
Very slight reduction in streptomycin MIC
Impairs the synthesis of austinol and dehydroaustinol and accumulates the intermediate compound 3,5-dimethylorsellinic acid (PubMed:22329759)
Prevents the up-regulation of several innate immune genes following P.aeruginosa-mediated infection (PubMed:25274306). RNAi-mediated knockdown causes a reduction in survival following P.aeruginosa-mediated infection (PubMed:25274306). Prevents the up-regulation of mitochondrial protective genes and increases the transcription of oxidative phosphorylation machinery and tricarboxylic acid cycle genes following mitochondrial stress caused by RNAi-mediated knockdown of protease spg-7 (PubMed:22700657, PubMed:25773600). Assembly of complex I and ATP synthase of the oxidative phosphorylation machinery and oxygen consumption are reduced in a spg-7 RNAi-mediated background (PubMed:25773600). RNAi-mediated knockdown reduces the levels of deleterious mtDNA that occurs in aging cells (PubMed:27135930). Protection from death following anoxia-reperfusion is lost in a spg-7 RNAi-mediated background (PubMed:27459203). RNAi-mediated knockdown does not alter atgl-1 expression (PubMed:33078707). However, RNAi-mediated knockdown increases atgl-1 expression in a hlh-11 ok2944 mutant background (PubMed:33078707). RNAi-mediated knockdown reduces the induction of hsp-60, an indicator of mitochondrial stress following overexpression of flp-7 (PubMed:33078707)
RNAi-mediated knockdown results in delayed pupation
Embryonic lethality when homozygous due to aborted ovules that had not been fertilized
Deletion mutants show shortened lifespan and enhanced intestinal tumorigenesis. These tumors exhibit increased inflammation (PubMed:27286456). Loss of STAT1 signaling pathway activation is also observed (PubMed:19889125). After viral infection such as junin virus, mice develop disseminated infection and severe disease (PubMed:20926559)
Uncoordinated locomotion with mutants showing reduced forward velocity, muscle force and power production
Occasional ectopic branching from the posterior crossvein
Reduces significantly the growth rate of cells exposed to polyhexamethylene biguanide (PHMB) (PubMed:27246500). Leads to increased resistance to zymolyase treatment, indicating alterations in the beta-glucan network (PubMed:27246500)
Plants display cell walls with decreased crystalline cellulose, increased pectins and irregular and ectopic deposition of pectins, xyloglucans and callose
No visible effect on starch and sugars turnover (PubMed:27207856, PubMed:34367195). In the double mutant esv1-2 lesv-1, starch is more rapidely degraded during the night (PubMed:27207856)
Decreased life span (PubMed:27875531, PubMed:27412785). However, another report did not observe any effect on life span (PubMed:26989253). Lymph node and spleen enlargement phenotype accompanied by macrophage infiltration (PubMed:27193190, PubMed:27875531, PubMed:26989253, PubMed:27412785). Severe inflammation also observed in liver (PubMed:27193190, PubMed:27412785). Increased total white blood cell count due to a significant increase in the number of circulating neutrophils (PubMed:27412785). Significantly reduced platelet and red blood cell count (PubMed:27412785). Increased levels of autophagy and lysosomal proteins and autophagy defects in the spleen and liver (PubMed:27193190). Impaired activation of MTOR/mTOR (PubMed:27875531). Massive up-regulation of the cell surface receptor Trem2 (PubMed:26989253). Significantly increased levels of a number of inflammatory chemokines and cytokines (PubMed:26989253, PubMed:27412785). Increased levels of autoantibodies indicative of an autoimmune phenotype (PubMed:27412785). Normal weight gain, sensorimotor coordination, limb strength, femoral motor and sensory axon counts, and muscle electrophysiology (PubMed:26989253). Conditional knockout in neurons and glial cells results in significantly reduced body weight but does not induce motor neuron degeneration, defects in motor function or altered survival (PubMed:26044557). SMCR8 protein expression is abolished in pre- and post-synaptic compartments in forebrain synapses (PubMed:31651360). RAB3A expression levels are increased in synaptosomes, however are decreased in post-synaptic compartments of the forebrain and in the hippocampus (PubMed:31651360). GRIA1/GLUR1 protein levels are increased in forebrain post-synaptic compartments and in the hippocampus (PubMed:31651360)
Causes lethality during development. Induced silencing shortens life span
Impairs conidiation, and abolishes sclerotial formation and aflatoxin production (PubMed:23994319)
Essential, it cannot be disrupted. Depletion experiments show cells grow as long, branched chains that form clumps. Periodic septa and DNA segregation appear to occur normally along the filaments. Has increased susceptibility to carbenicillin, a cell wall-targeted antibiotic. Depletion effects are reversible
Cells show no change in the morphology of endocytic compartments
No visible phenotype. Clt1, clt3 and clt3 triple mutants are more sensitive to Cd(2+), have a decreased level of cytosolic GSH, an altered systemic acquired resistance response and are more sensitive to Phytophthora infection (PubMed:20080670). Clt1, clt3 and clt3 triple mutants have decreased lateral root densities (PubMed:24204368)
Mutant cells display defects in the protein secretory pathway and in organelle biogenesis, and are deficient in their ability to initiate development upon starvation. The contractile vacuole, which is necessary to survive under hyperosmotic conditions, is non-functional in mutant cells
Loss of copper-based induction of copA. Causes a mild defect in aerobic growth on CuSO(4), strongly impairs survival during anaerobic growth on CuSO(4)
Leads to flocculation, attenuated virulence towards reconstituted human esophageal tissue, and to hypersensitivity to fluconazole and voriconazole
Cannot be disrupted, suggesting it is a functional antitoxin. No visible phenotype when the relBE2 operon is deleted
Early flowering, altered stamen number and impaired seed development
Cells lacking this gene show a normal growth rate, do not exhibit a decrease in the efficiency of natural transformation, but display a reduced capacity to survive ionizing radiation when exposed at doses superior to 2.5 kGy and exhibit increased sensitivity to mitomycin C
Kinky-shaped pollen tubes due to periodic growth arrests alternated with phases of tube axis reorientation of pollen tube tip, as well as shorter and thicker root hairs. Lack of callose plugs in pollen tubes. Reduced seed set
No visible phenotype under normal growth conditions, but mutant plants show increased disease symptoms and cell death after inoculation with an avirulent strain of Pseudomonas syringae pv. tomato DC3000 (PubMed:20972793). Pale-green phenotype with low survival rates during de-etiolation (PubMed:23118188). Hypersensitivity to salt, osmotic, and oxidative stresses (PubMed:26387714)
Accumulation of 1-phosphate tetraacylated lipid A, unlike strain 26695 no hexaacylated lipid A is detected (PubMed:16740959, PubMed:22216004). 16-fold to 25-fold decrease in resistance to CAMP polymyxin B (PMB) (PubMed:16740959, PubMed:22216004). Increased cell-surface binding of CAMP, 2-fold decrease in resistance to endogenous antibacterial peptide Hp (rplA). Lipopolysaccharide (LPS) from this strain induces the human innate immune response via Toll-like receptor 4 (TLR4) 2-fold in cultured cells (similar effects are seen with mouse cells, has no effect on TLR2-mediated induction). No changes in O-antigen or motility. Decreased ability to colonize C57BL/6J mouse stomachs (using mouse-adapted H.pylori strains B128 and X47). A double lpxE-lpxF mutant accumulates 1-, 4'-bisphosphate hexaacylated lipid A, has 1000-fold decrease in resistance to PMB (a similar reduction in resistance is seen for other human-derived CAMPs), a 70-fold decrease in resistance to endogenous antibacterial peptide Hp, induces the innate immune response via TLR4 10-fold, loss of colonization of C57BL/6J mouse stomachs (strains B128 and X47) (PubMed:22216004)
Approximately 15 percent of mutants have an overextension of the axon of ALM neurons which terminates with a small hook. Approximately 30 percent of mutants have an overextension of the axon of PLM neurons. Approximately 10 percent of mutants lack synaptic branch extension in PLM neurons
Decreased roaming in response to food during the L3 and L4 stages of larval development and adult stages, but not at the L1 stage of larval development. Increased lipid accumulation
Mice exhibit a normal retinal morphology but altered light responses of retinal ganglion cells (PubMed:27822497)
Perinatal mice show reduced regeneration of neural tissue following ischemic brain damage (stroke), associated with fewer activated microglia and impaired neural stem cell proliferation. Aged mice show deficits in learning and memory, decreased anxiety-like behavior, and changes in hippocampal synapse composition. Otherwise viable and fertile
Cells lacking this gene are unable to grow with D-glucosaminate as the sole carbon source
Leads to severe polarity defect, hypersensitivity to ER stress, and attenuated virulence; when prmA is also deleted
Mice are viable and healthy and show normal blood glucose and serum fructosamine levels (PubMed:16819943). They however display increased protein glycation levels in cells such as erythrocytes and pancreatic islets (PubMed:16819943, PubMed:20009024). Increased levels of protein glycation levels do not affect the maintenance and function of pancreatic islets (PubMed:20009024)
Loss of T2S and SL-1 formation. Unsulfated acylated precursors of SL-1 are not detected, which indicates that Stf0 acts before lipid addition to trehalose
Grossly normal movement
Larval lethality during the L1 stage, with the formation of vacuoles in syncytial hypoderm, organ morphology defects, and molting defects (PubMed:17267616, PubMed:20862215). RNAi-mediated knockdown results in a reduced body size, transparent appearance, sluggish movement and insensitivity to touch (PubMed:18262516, PubMed:20862215). Delayed development and a molting defect that begins at the L3 to L4 larval stage transition and continues through to transition from the L4 larval stage to the young adult stage (PubMed:20862215). Increased sensitivity to acetylcholine inhibition (PubMed:20862215). Increased pharyngeal pumping (PubMed:11896189). In a let-7 mutant background, partial suppression of the let-7 bursting vulva phenotype (PubMed:28933985). Double RNAi-mediated knockdown with acn-1 in a let-7 mutant background leads to complete suppression of the heterochronic seam cell defects (PubMed:28933985)
Deletion of the gene confers high-level drug resistance to a wide range of antibiotics and antituberculosis drugs, and protects M.bovis from killing in macrophages that prevent intracellular mycobacterial replication. Increases resistance to small, hydrophilic antibiotics, to antituberculosis drugs, to large, hydrophobic or hydrophilic antibiotics such as erythromycin, rifampicin and streptomycin, and to nitric oxide. Under in vivo conditions, such as in human THP-1 macrophages, absence of the gene drastically reduces intracellular growth of M.bovis
No visible phenotype under normal growth conditions, but roots of mutant plants are impaired in the interaction with rhizobia, formation of infection threads (ITs) and nodule development
Cells lacking this gene lose the ability to grow on gamma-HCH; growth is restored when a plasmid containing the linF gene is introduced
Early embryonic lethality, day 6.5-7.5. Conditional, tissue specific mutants are variably viable and show diverse defects including obesity, diabetes, thermal dysregulation and infertility
Animals die as pharate adults with crooked legs, abnormal genitalia and a larval-like epidermis. Proliferation of histoblast cells is impaired
Leads to delayed spore germination and the unidirectional cell extension is not followed by cell division. Proliferates faster with smaller cell size than the wild-type cell during vegetative growth, but no other significant cellular anomaly, such as defects in septation or cytokinesis are detected. Sensitive to UV light. Shows a normal cell cycle delay after UV irradiation, but displays aberrant septum formation and defects in cytokinesis when released from the UV damage checkpoint. However, chromosome segregation is not affected
Decreases H3K9 methylation and impairs heterochromatin silencing; simultaneous disruption of dri1 exacerbates the effect
The double mutant pdf2-1 hdg2-3 exhibits abnormal flowers with sepaloid petals and carpelloid stamens in association with a reduced expression of APETALA 3 (AP3) in the epidermis and internal cell layers of developing flowers
Does not affect the production of agnestins
Simultaneous deletion of TonB-depedent transporter (TBDT) receptor genes fhuE, fhuA, fecA, cirA, fepA and fiu results in loss of growth on solid agar using Fe-coprogen, Fe-rhodotorulic acid or ferrioxamine B as the sole iron source
Deletion results in increased susceptibility to isoniazid and accumulation of intracellular ethidium bromide
Niacin administration has no effect on serum adiponectin levels in contrast to wild-type mice where levels are decreased
Selective disruption of isoform 1 abolishes liver aspartyl beta-hydroxylase activity, but does not affect the expression of isoform 2. Mice lacking isoform 1 have normal blood chemistry, do not present blood coagulation defects and appear more or less normal, except for shorter snouts, mild defects of the palate ridges, syndactily due to fusion of soft tissues and reduced litter size from mutant females, while male fertility appears normal. Mice lacking isoform 2 show no visible phenotype
Leads to complete absence of citrinin production (Ref.1)
Causes large body size and prolongs the final instar larval stage (PubMed:26041352). In the midgut of instar larval stage (L5D4), causes an increase of ecdysteroid levels, up-regulation of IRS and PI3K mRNA levels and down-regulation of TSC1 and TSC2 mRNA levels (PubMed:26041352). RNAi-mediated knockdown at the pupal stage, does not affect growth or ovary development (PubMed:30262999). However, the ovary has decreased levels of 3-dehydroecdysone without affecting ecdysone levels (PubMed:30262999). Also, hatching rate is reduced and, laid eggs have lower levels of 20-hydroxyecdysone and are arrested at the organogenesis stage (PubMed:30262999)
Leads to the loss of gibberellins production (PubMed:9917370). Accumulates GA14 but later intermediates of the pathway are not detected (PubMed:11943776)
Enhanced susceptibility to pathogen powdery mildew E.cichoracearum
Enhanced sensitivity to abscisic acid (ABA) (PubMed:18434605). RNAi mutants also display enhanced sensitivity to abscisic acid (ABA) (PubMed:19704533)
Leads to increased sensitivity to oxidative stress and reduces the virulence toward rice plants (PubMed:17056706)
Mice show a shiny and lichenified skin with an epidermis containing more alveolar keratohyalin F-granules and an altered profilaggrin processing. The skin is highly sensitive to the formation of cyclobutane pyrimidine dimers after UVB irradiation, leading to increased levels of UVB-induced apoptosis (PubMed:17515931). Mice accumulate incomplete filaggrin breakdown products within the epidermal stratum corneum (SC), leading to reduced levels of natural moisturizing factors (NMFs) and lower SC hydration (PubMed:21654840)
Deletion of the gluABCD cluster almost abolishes glutamate uptake activity
Mutant is insensitive to GlcNAc
Fails to localize guanylate cyclase gcy-12 to sensory cilia
Cells are urease negative and are no longer able to transport urea
Loss of ATPase activity. Increased sensitivity to turnip crinkle virus (TCV) leading to spreading hypersensitive response (HR) and impaired control of viral replication and spread. Suppression of HR-like cell death induced by Pseudomonas syringae avrRpt2. Suppression of lesion formation and partial suppression of stunted growth of ssi4 mutant (PubMed:18191794). In the double mutant crt1-2 crh1-1, compromised resistance to avirulent Pseudomonas syringae and Hyaloperonospora arabidopsidis associated with compromised cytosolic calcium accumulation upon infection (PubMed:20332379). Impaired gene silencing due to decondensation of chromocenters leading to the derepression of DNA-methylated genes and transposable elements (TEs); DNA and histone methylation seems normal (PubMed:22555433, PubMed:24799676). The double mutant crt1-2 crh1-1 exhibits also an increased sensitivity to turnip crinkle virus (TCV), and reduced defense mediated by flg22 against Pseudomonas syringae (Pst). Impaired non-host resistance toward P. infestans and altered systemic acquired resistance (SAR) triggered by P. syringae pv. maculicola (Psm) AvrRpt2 cor(-). Reduced sensitivity to the DNA-damaging agent mitomycin C (PubMed:23250427)
Single deletion is viable, and shows no effects on glucose uptake. A double mspA-mspC deletion takes up less of the antibiotic cephaloridine, glucose, serine and phosphate than the single mspA deletion and grows slower than wt or single mspA deletion. A triple mspA-mspC-mspD deletion grows even slower and has reduced Fe(3+) transport compared to wild-type
Remains resistant to thailandamide
Affects proper autophagosome formation, asexual and blastospore development, and virulence (PubMed:28557308). Leads to severe defects in secretion of cuticle-degrading Pr1 proteases and melanisation of infected insects (PubMed:28557308). Reduces the transcript levels of all autophagy-related (ATG) genes including ATG1, ATG5 and ATG8, except unaffected ATG26 (PubMed:28557308)
Cells lacking this gene have normal growth and morphology but produce minimal D-Met, D-Leu, D-Val, and D-Ile. They contain twice the amount of peptidoglycan (PG) of wild-type cells in stationary phase, whereas PG levels do not differ in exponential phase. Addition of physiological amounts of D-Met and D-Leu to cultures with a deletion in bsrV reduce the amount of PG to wild-type levels, which confirms that the absence of D-amino acids accounts for the increased PG in the bsrV mutant. Moreover, the structure of wild-type and bsrV mutant PG isolated from stationary phase cells differed significantly. The glycan chains in stationary phase PG from the bsrV mutant are about 80% the length of the wild type, pentapeptides are reduced by about 50%, and there is an increase in trimer muropeptides. Despite being less abundant, the PG in wild-type cells appears to be stronger than in bsrV mutant cells. Wild-type cells survive 20 times more than bsrV mutant cells when subjected to an osmotic challenge (PubMed:19762646). D-Arg is not detected in the supernatant of cells lacking this gene. Production of other D-amino acids (for example, D-Leu) is also impaired in the deletion mutant (PubMed:29028003)
Decreased fumarate levels, while malate levels increase (PubMed:20202172). Leaves display lower levels of many amino acids during the day, but higher levels at night, consistent with a link between fumarate and amino acid metabolism (PubMed:20202172). Plants are unable to acclimate photosynthesis in response to cold (PubMed:27440755)
Non-polar single gene deletion has wild-type growth and motility. Has half the number of magnetosomes which are mostly incorrectly positioned and of lower chain length; magnetite crystals and magnetosome morphology are normal. No magnetosome-associated filaments are seen (PubMed:20487281, PubMed:27733152). Incorrect subcellular location of MamJ (PubMed:20487281). Incorrect positioning of magnetosomes in dividing cells, leads to uneven distribution of magnetosome crystals (PubMed:22026731, PubMed:27733152). Deletion of 3 consecutive genes (mamJ, mamK, mamL) leads to cells devoid of magnetosomes or a magnetic response (PubMed:22043287). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
No longer autoagglutinates, loss of motility and decreased ability to invade human cell line (PubMed:11895937). Significantly decreased translation of flagellin A, 2-fold increase in flaA mRNA levels. Has 1 short flagella, the average swimming distance decreases about 30%. The mRNA for flaA is no longer localized to the cell poles in short, probably elongating, cells. A double csrA-fliW deletion expresses the same amount of flagellin A as the csrA deletion, has 2 wild-type length flagella, a wild-type swimming distance and restored localization of flaA mRNA to the poles of short, probably elongating, cells
Exhibits increased colonization of the murine intestinal tract, a model of commensal colonization
Dramatic reduction of growth rate and loss of nucleoid. Slight decrease in cell length and cell area. Cells form multiple, often incomplete, septa, and FtsZ and Z-rings are mislocalized, with the presence of several aberrant Z-rings in 43% of the cells. Cells have defective DNA content and they have either no DNA at all or chromosomes are cut during septum closure. In many cells, the chromosome is localized at only one half of the cell. Mis-timed and significantly decreased DNA replication initiation rate, the phenotype of which can be bypassed by missense mutants DnaA-Q247H or DnaA-S292G, or nonsense mutant YabA-E93. Capsule production is not affected
Increased sensitivity to phosphine
No visible phenotype at birth. Mutant mice have normal gait and equilibrium and are fertile. They display severe and rapidly progressing hearing loss already 14 days after birth, and completely lack response to a 90 dB sound 21 days after birth. Endocochlear potential and paracellular permeability in the stria vascularis are not affected. The arrangement of inner and outer hair cells in the organ of Corti appears normal at 12 days after birth, but outer hair cells and inner hair cells have disappeared by 21 days after birth. Hair cells survive on cochlear explants (in vitro), suggesting that hair cell degeneration is due to K(+) leakage from the endolymph to the perilymph
Double espI-eccD1 mutants abolish EsxA and EsxB secretion, but not their expression (PubMed:14557547). One group has shown no growth in the human macrophage-like cell line THP-1, no cytotoxicity, attenutated infection in mice, nearly 100-fold less bacteria in lung and spleen of C57BL/6; Brodin et al., attribute this result to polar effects on the downstream gene (PubMed:14756778, PubMed:16368961). Another group has shown that inactivation does not abolish EsxA (ESAT-6) secretion, EsxA-specific immunogenicity or virulence (PubMed:16368961, PubMed:25039394)
Mice die within a day of birth with malformations involving the spine, genitourinary system and distal digestive tract due to disrupted germ-layer morphogenesis at the primitive streak where cells undergo an epithelial-mesenchymal transition. Urogenital defects due to impaired hindgut formation start at embryonic day 8.25. Dvl2 and Vangl2 are found increased at the primitive streak, associated with abnormal distribution of E-cadherin
Viable, but have an extended lifespan (PubMed:30965033). There is a decrease in early progeny production, resulting in smaller self-fertile brood size, and an increase in late progeny production, which results in an extended self-fertile reproductive lifespan (PubMed:30965033). Defective pharyngeal grinder positioning, which results in feeding defects (PubMed:8462849). Animals also have protruding male spicules (PubMed:8462849)
Impaired capacity to form and maintain dauer larvae upon starvation (PubMed:23580723). RNAi-mediated knockdown in a pept-1 (lg601) mutant background results in a reduced number of progeny (PubMed:30560135). Dietary supplementation with glutamate does not rescue this phenotype (PubMed:30560135)
Short and immotile flagella. Inner dynein arm (IDA) and nexin-dynein regulatory complex (N-DRC) components are absent or severely reduced. Radial spokes are attached to doublet microtubules with an irregular periodicity of 32 nm instead of 96 nm
Complete protection from imiquimodum (IMQ)-induced skin pathology observed in wild-type mice, including hyperkeratosis, acanthosis, neutrophil recruitment, and expansion of IL-17-producing T-cells
Blocks the desulfurization of DBT to 2-HBP, accumulates an unknown intermediate that is not DBTO2
Mutant strain lacks G2553 methylation in 23S rRNA (PubMed:35710145). Loss of the gene does not affect growth nor lead to ribosome assembly intermediates accumulation (PubMed:35710145)
Mutants lack the ability to produce a biofilm
Morpholino knockdown of the gene results in smaller embryos with multiple anomalies, including bent tails, hypopigmentation, microphthalmia, hydrocephalus, and reduced motility. Muscle fibers in mutant animals are sparse and disorganized, and the myosepta are damaged or incompletely developed. There is also evidence of sarcolemmal damage. Immunostaining shows defective glycosylation of DAG1 associated with abnormal structure of the basement membrane
Mice die of apoptosis at the blastocyst stage
Knockout mice do not display severe skeletal abnormity at birth, but exhibit late-onset short stature. They show craniofacial dysmorphias, including hypertelorism, thickening of the calvaria and minor sclerosis of the skull base. Platyspondyly is also observed, as well as short limbs and underconstriction of the diaphyses
Cells lacking both Slc25a39 and Slc25a40 show defects in the activity and stability of proteins containing iron-sulfur clusters
Impairs the production of paxillines (PubMed:23949005). Leads to the accumulation of the paspaline intermediate (PubMed:12884010)
Reduced seed set
Viable and fertile however flies display a decreased climbing index and extracellular sound-evoked potentials are completely abolished (PubMed:24068974). This hearing defect is likely due to the abnormal localization of the two transient receptor potential channels iav and nompC, as well as eys within the cilia (PubMed:24068974). There is no localization of iav to the proximal cilia, and nompc which is typically found in the distal cilia, is localized to the proximal cilia (PubMed:24068974). Also eys displays a much broader expression pattern (PubMed:24068974). RNAi-mediated knockdown in the fat body of larvae fed a high sugar diet, results in an increase in body weight, an increase in triglyceride accumulation and a decrease in hemolymph glucose levels (PubMed:23355467)
Loss of plasmid replication
Disruption of this gene leads to a loss of the ability to utilize taurine as a source of sulfur, but does not affect the utilization of a range of other aliphatic sulfonates as sulfur sources
No visible phenotype (PubMed:21813794). Plants missing both PGM1 and PGM2 have no detectable phosphoglycerate mutase activity and show defects in blue light-, abscisic acid- (ABA), and low CO(2)-regulated stomatal movements (PubMed:21813794). The double mutant ipgam1 ipgam2 exhibits a severely impaired vegetative growth with pale reticulate leaves and don't produce pollen (PubMed:21813794)
Reduced root hair length (PubMed:25944827). Longer roots and larger leaves (PubMed:24914209)
RNAi-mediated knockdown causes a reduction in survival in response to bacterium S.aureus infection
Intermediate magnetic response, slightly smaller magnetosomes. Double mamF-mmsF and double mms6-mmsF deletions have a normal magnetic response, slightly smaller, fewer magnetosomes (PubMed:24816605). Deletion of the 4 gene operon (mms6, mmsF, mms36 and mms48) gives an intermediate magnetic response with fewer, smaller magnetosomes in irregular pseudo-chains (PubMed:22043287, PubMed:24816605)
Leads to the production of coprinoferrin
Mice lacking Anapc7 show growth delay around weaning, although birth weight and adult size are normal. They show sensorimotor dysfunction in locomotive assays, as well as defects in the regulation of short- and long-term memory retrieval of the contextual fear response. Loss of the protein does not alter the anatomy of brain regions
Thymus of embryos show a small number of T-cell progenitors that are unable to progress through thymic differentiation. Adult mice show vestigial thymus and lymph nodes and a reduced spleen size. In the periphery and in the spleen, display an absence of mature T-cells, a reduced number of NK cells, but a normal number of mature B-cells
Mice are overtly normal and fertile (PubMed:17008357). Mice however display impaired synaptic plasticity in the hippocampus: the number of dendritic spines in the CA1 hippocampal pyramidal cells is slightly reduced and mice show abnormal social behavior (PubMed:17008357). Mice are not hyperphagic and display normal food intake (PubMed:24769669). Following a 12 week high-fat diet, knockout mice gain significantly less weight and exhibit lower body fat content, possibly caused by reduced fat absorption in the intestine (PubMed:24769669). Mice also show mild polydipsia and polyuria; kidney display altered glomerular and tubular morphology (PubMed:17283064)
RNAi-mediated knockdown is pupal lethal (PubMed:24026097, PubMed:26756164). Pharate adults removed from their pupal cases display severe defects in head eversion, with head structures forming within the thoracic area (PubMed:24026097). Pupal lethality can be rescued by supplementing their diet with CaCl2 (PubMed:26756164). RNAi-mediated knockdown in the fat body results in the activation of the Imd and Toll signaling pathways under unchallenged conditions, with constitutive expression of the Toll (Drs, IM1) and Imd (DptA, Def, Atta) antimicrobial peptides (PubMed:25027767). Flies infected with E.coli display enhanced expression of Atta and DptA compared to controls (PubMed:25027767). Double knockdown with imd prevents the enhanced expression of Atta and DptA in uninfected and infected flies (PubMed:25027767). RNAi-mediated knockdown in the clock neurons (tim) does not affect the free-running period of circadian rhythms under light-dark (LD) and constant dark (DD) conditions (PubMed:26756164)
Genetic ablation of FAAH bidirectionally dysregulates a subset of intracellular, but not circulating, N-fatty acyl amino acids
Impairs growth on galactose and leads to thermosensitivity on glucose-containing media
Cells lacking this gene are only able to grow after a 2-day lag period on D-malate as sole carbon source
Increased expression of InlA (PubMed:20176794). No change in invasion or bacterial survival in host mamammalian cells including macrophages (PubMed:20176794). Decreased bacterial counts in blood, spleen and liver of intravenously inoculated BALB/c and C57BL/6 mice (PubMed:20176794, PubMed:11575932). Increased production of host IL-6 in liver and spleen of intravenously infected BALB/c mice, but not in macrophage cell lines (PubMed:20176794)
Mutants show a slight growth defect, but do not show increased sensitivity to ionizing radiation or alkylating agents. Show decreased rates of survival after UV-C irradiation
Disruption of the gene does not significantly alter exopolysaccharide (EPS) production
No growth on minimal medium plus DL-DAP; growth can be restored by a mix of 8 amino acids (Arg, Asn, Cys, Glu, Ile, Leu, Met and Thr)
Mutant accumulates aurachin D and aurachin C and does not produce aurachin B and aurachin A
Fails to accumulate M(IP)2C and instead accumulates increased amounts of the precursor mannose-inositol-P-ceramide
Knockout causes abnormal development of the pharynx, when cultured at the restrictive temperature of 23 degrees Celsius, which is exacerbated on a ceh-51 mutant background (PubMed:19605496). Embryonic arrest occurs on a ceh-51 mutant background (PubMed:19605496). Expression of homeodomain protein ceh-51 in embryo is reduced; abolished by simultaneous RNAi-mediated knockdown of pop-1 (PubMed:19605496)
No visible phenotype under normal growth conditions, but the quadruple d6pk, d6pkl1, d6pkl2 and d6pkl3 mutants are deficient in lateral root formation and mildly agravitropic, have fused or single cotyledons and narrow and twisted leaves, form few axillary shoots, are almost infertile and impaired in phototropic hypocotyl bending when exposed to lateral white light
No visible phenotype under normal growth conditions, but mutant seedlings exhibit hypersensitivity to abscisic acid (ABA) or salt treatments
Null mice exhibit a lowering of oxygen consumption in skeletal muscle. Glucose oxidation is reduced to around 35%. Hypoxia tolerance is induced in myofibers
Knockout mice are born at the expected Mendelian rate, with a normal sex ratio, but have a median survival of only 15 weeks. They exhibit chronic hepatic hematopoiesis and, in later stages, show pronounced hepatocyte apoptosis, leading to lethal liver failure. Loss of GIMAP5 function impairs peripheral T-cell survival, imposes a complete block of natural killer (NK) and NK T-cell development (PubMed:18796632). Mutant mice show progressive multilineage failure of bone marrow and hematopoiesis. Compared with that of wild-type counterparts, the bone marrow contains more hematopoietic stem cells, but fewer lineage-committed hematopoietic progenitors (PubMed:21502331)
RNAi-mediated knockdown results in embryonic lethality (PubMed:12937276, PubMed:28122936). Causes severe defects in mitosis (PubMed:28122936). Cytokinesis is blocked and nucleus formation is impaired after the first embryonic mitosis (PubMed:12937276). Centrosome assembly during prophase and prometaphase and their subsequent resolution are impaired which results from impaired nuclear import of hcp-4 (PubMed:28122936). Impaired sister chromatin segregation (PubMed:28122936)
Impaired muscle morphology and physiology leading to impaired exercise capacity (PubMed:27197761). Mice were born at the expected Mendelian frequency (PubMed:27197761). At 14 weeks, mice display reduced exercise capacity, probably caused by alterations in muscle metabolism related to mitochondrial content and oxidative capacity (PubMed:27197761). Cells show reduced pseudouridylation of cytoplasmic and mitochondrial tRNAs (PubMed:27197761)
Null mutant is hypersensitive to the lysine antimetabolite thialysine
RNAi mutant displays impaired NDH activity
Loss of lovastatin biosynthesis
Absence of Sarm1 provides a level of protection against axon degeneration (PubMed:22678360, PubMed:26912636, PubMed:28978465). Genetic deletion blocks Wallerian degeneration of sciatic nerve and cultured superior cervical ganglia and peripheral polyneuropathy induced by vincristine (PubMed:22678360, PubMed:27797810). Severed Sarm1 null axons are able to persist up to 72 hours after axotomy, whereas wild-type axons degenerate within 8 hours (PubMed:22678360). Similarly, axons appear to be protected from degeneration in a sciatic nerve lesion model, lasting up to 14 days compared with 3 days for wild type (PubMed:22678360). Mice display improved traumatic brain injury-associated phenotypes after injury: mice develop fewer beta-amyloid precursor protein aggregates in axons of the corpus callosum after traumatic brain injury and show improved axonal integrity (PubMed:26912636). Mice show some protection against early but not late axonal degeneration in experimental allergic encephalomyelitis mouse model (PubMed:32584865). Mice exhibit normal glucose metabolism and pain sensitivity but show attenuated diabetic peripheral neuropathy (PubMed:31439642). Mice lacking both Sarm1 and Nmnat2 are viable and survive: Sarm1 deficiency corrects axon outgrowth in mice lacking Nmnat2, independently of NMNAT metabolites, preventing perinatal lethality (PubMed:25818290). Mice lacking both Rho and Sarm1 show a level of protection against retinal degeneration induced by the absence of Rho: the absence of Sarm1 promoting rod and cone photoreceptor cell survival (PubMed:32312889)
RNAi-mediated knockdown causes accumulation of citrate, leading to induction of the citrate-induced mitochondrial unfolded protein response (mtUPR)
RNAi-mediated knockdown causes significant reduction in the expression of 21U-RNAs, upon simultaneous knockdown of fkh-3 and fkh-5
Sesn-null flies do not exhibit developmental abnormalities. However, fat bodies from third-instar larvae contain more lipids and adults also contain more triglycerides. Flies heart function is compromised with arrhythmia and decreased heart rate. Skeletal muscle undergo accelerated age-related degeneration
Cells lacking this gene are shown to be highly attenuated in a mouse tuberculosis model (PubMed:14569030). Essential for growth even in liquid culture; growth does not occur on biotin-containing medium after biotin deprivation (PubMed:20565114)
Mutants show no significant alteration in fatty acid composition or in phenotype
Accumulation of upstream metabolites, such as thebaine, but reduced production of morphine (PubMed:22098111). Lower levels of sanguinarine and 1-benzylisoquinoline laudanosine and, to some extent, of noscapine and papaverine in roots but increased accumulation of the protopine alkaloids cryptopine, protopine and allocryptopine, and of the protoberberines sinactine, N-methystylopine, N-methylcanadine and rhoeadine N-methylporphyroxine (PubMed:23928311)
Strain lacking this gene is defective in the arrest of phagosomal maturation as well as for growth in human THP-1 macrophages. The mutant strain is severely attenuated for growth in the lungs and spleen of guinea pigs and has a significantly reduced ability to cause pathological damage in the host when compared with the parental strain. Also, the guinea pigs infected with the mutant strain exhibit a significantly enhanced survival when compared with M.tuberculosis infected animals
Does not cause any detectable defects in the vegetative and reproductive properties of the toxin-producing pathogen. The deletion of ALT7 has no deleterious effect on the toxin-producing pathogen, indicating that the gene does not act as a resistance/self-tolerance factor against the toxin in the toxin biosynthetic gene cluster
Knockout mice lacking Gp2 fail to induce antigen-specific helper-T-cells and antibody immune responses after oral immunization with FimH positive bacteria (PubMed:19907495). This is not due to a general defect in the immunological functions, since a normal response is induced by other systemic immunizations (PubMed:19907495)
Enhanced resistance to bacterial pathogen PstDC3000 in RNAi mutant
RNAi-mediated knockdown reduces lifespan to less than half of that of controls. Reduced paucimannose and complex-type glycans and increased glucosylated oligomannose glycans and fucosylated N-glycans. Chronic endoplasmic reticulum stress response is believed to be due to the accumulation of triglucosylated free oligosaccharides as a result of impaired glycan processing
RNAi-mediated knockdown causes defects in gonadal distal tip cell migration (PubMed:17606640). RNAi-mediated knockdown reduces expression of the integrin alpha pat-2 in gonadal DTCs in about 70% of individuals and in 90% on a vab-3 mutant background (PubMed:17606640). RNAi-mediated knockdown increases expression of the integrin alpha ina-1 in gonadal DTCs in hermaphrodites (PubMed:17606640). RNAi-mediated knockdown induces generation of additional dopaminergic neurons (PubMed:21079745). BAG sensory neuron-specific RNAi-mediated knockdown reduces expression of receptor-type guanylyl cyclase gcy-9 (PubMed:30890567)
Mice are viable and fertile. Mice have a mild diabetic phenotype and lower plasma glucagon levels. The overall shape of the islets, the location of the alpha cells in the mantle of the pancreatic islets or proliferation of pancreatic alpha cells are not affected
No visible phenotype, due to the redundancy with other RGF genes. Triple mutant rgf1-rgf2-rgf3 shows a decreased meristematic cell number resulting in a short root phenotype
Worms are unable to form the pharyngeal primordium with the pharyngeal precursor cells, ABaraapapaa and ABaraapppaa showing arrested development prior to terminal cell division. Some mutants exhibit malformed rectal tissues and fail to undergo proper embryonic elongation. RNAi-mediated knockdown at the L1 larval stage reduces survival (PubMed:30965033)
Light-dependent spontaneous cell death due to the absence of D-biotin. Strong accumulation of hydrogen peroxide H(2)O(2) and constitutive up-regulation of reactive oxygen species- (ROS)-responsive and defense genes. Reduction of both chloroplastic and nuclear biotinylated proteins. Accumulation of conjugated salicylic acid (SA)
Knockout mice are viable and fertile and under normal growth conditions exhibit no obvious phenotypic abnormalities, and are only slightly more susceptible to the effects of dietary zinc deficiency
Deficient mice display resistance to diet-induced obesity, decreased adipose tissue and imporved glucose tolerance and insulin sensitivity
Decreased response to nose touch, but normal motor and sensory behaviors and normal levels of glutamate receptor glr-1 (PubMed:33665029). Small but significant decrease in response to high osmolarity (PubMed:33665029). Decreased reversal responses to direct stimulation of the polymodal sensory neuron ASH as compared to wild type (PubMed:33665029). Defects in male mating behavior; reduced efficiency in locating vulva of partner (PubMed:27144354). Alterations in AVG interneuron synaptic wiring in a dmd-5 mutant background (PubMed:27144354)
Deletion results in an attenuated phenotype towards V. parahaemolyticus
Decreases recovery from exposure to oxalate, to oxalate-secreting microbes, and to oxidative stress
Complete embryonic lethality. Normal embryonic development ceases about 9.5 dpc. Conditional gene disruption in the heart causes death shortly after weaning in male mice fed normal chow, while mice on high fat diet survive, but develop left ventricular hypertrophy, due to impaired glucose and energy metabolism in the heart. Likewise, conditional gene disruption in pancreas islet beta cells disrupts normal insulin secretion in response to glucose stimuli, while conditional gene disruption in oocytes causes reduced ATP levels and thereby prevents normal meiosis during oocyte maturation
Results in delayed hyphal development and enhanced sensitivity to cell wall-perturbing agents, yet does not impair virulence in vivo
Severely perturbed cell division. Aberrant cell-wall deposits accumulate during septation alongside a range of mitotic defects including errors in chromosome segregation and spindle formation. Slow growth at 25 degrees and inviable at 32 degrees
Mice develop normally and are fertile but display mast cell granule and T-lymphocyte secretory granule defects. Granules are more amorphous than in the wild-type and show a less defined dense core formation. There is a lack of mast cell-specific protease activity although mRNAs for a variety of proteases are detected and storage of granzyme B is affected in T-lymphocytes. Neutrophil granules display a lack of neutrophil elastase and processing of MMP2 is abrogated. Macrophages show no major morphological defects
Cells show altered biofilm formation; on glass surfaces and on tobacco root surfaces, it exhibits a greater biofilm mass than the wild-type
Reduced growth rate
Most mice die neonatally from respiratory distress (50% on a mixed C57BL6/CD1 background and 100% on an inbred C57BL6/129Ola background). Surviving mice fail to thrive and show significantly reduced body weight, skeletal deformities and spontaneous fractures. More than 80% die by postnatal day 10, and none survives to weaning
No effect on miRNA accumulation in the wild-type background, but increased abundance of the heterogeneous miRNA species in a hen1 background. Reduced 3' uridylation of miRNAs without affecting the 3' truncation
Perinatal death in approximately half of knockout mice (PubMed:24336520). Death is caused by fetal growth restriction, reduced hepatic glycogen stores and hypoglycemia (PubMed:24336520). Surviving adult mice display constitutive endoplasmic reticulum stress in multiple cells and tissues (PubMed:24336520). Elevated endoplasmic reticulum stress in pancreatic beta cells is associated with beta cell loss, hypoinsulinemia and glucose intolerance (PubMed:24336520) Conditional knockout mice lacking Dnajb9 in bone marrow show impaired hematopoiesis: the number of myeloid cells is increased, while the number of erythroid and B lymphoid cells is reduced (PubMed:25222125). B-cell defects cause decreased survival of B-cell precursors, including large and small pre-B, and immature B-cells (PubMed:25222125)
No effect on tolerance to aluminum
Cells lacking this gene grow normally in minimal medium or in high-osmolarity environments, and exhibit the same survival capacity as the wild-type strain upon a drastic osmotic downshift. They sporulate and germinate normally
RNAi-mediated knockdown results in defective clearance of paternal mitochondria and impaired accumulation of the autophagosome marker lgg-1 in 1-cell stage embryos
Mutants are healthy and fertile, but display an initial delay in coat growth, with older mice exhibiting hair loss as a result of poor anchoring or the hair shaft in the follicle. They show reduced numbers of abnormal desmosomes in the interfollicular epidermis. Develop palmoplantar keratoderma (PubMed:21081122). They also exhibit mild chronic skin barrier defects with altered keratinocyte terminal differentiation, increased expression of inflammatory markers and infiltration of the skin by immune cells
Loss of the Cpx envelope stress response (PubMed:10972835). Decreased resistance to the antibiotic amnikacin (PubMed:2185221). Single cpxA and double cpxR-cpxA mutant decrease transcription of degP (PubMed:7883164). Decreased transcription of cpxP (PubMed:9473036). Hypersensitive to alkaline pH (greater than pH 8.8) (PubMed:9473036). Decreased numbers of stationary phase cells bind to hydrophobic surfaces (PubMed:11830644). Greatly increased resistance to hydroxyurea, probably due to decreased recognition of mis-folded proteins which eventually leads to decreased OH radical formation (PubMed:20005847)
No visible phenotype when heterozygous. Bleached phenotype and no viable seeds produced when homozygous
Flies exhibit reduced proline oxidase activity which produces sluggish behavior
Mice are highly susceptible to subcutaneous group A Streptococcus (GAS) infection in an animal model (PubMed:35110732). Mice lacking Gsdma, Gsdma2 and Gsdma3 are highly susceptible to subcutaneous group A Streptococcus (GAS) infection in an animal model (PubMed:35545676)
Leads to smaller lesions on soybean seedlings
Inactivation of the gene results in ClpP-independent competence development as well as partial suppression of the sporulation defect conferred by clpP mutation (PubMed:11703662). Null mutant shows hypersensitivity to disulfide stress and to paraquat (PubMed:14597697, PubMed:18662407). Mutants have increased sensitivity toward cell wall active antibiotics inhibiting both early and late steps in peptidoglycan synthesis (PubMed:29271514). Cells lacking the gene are defective in thermotolerance (PubMed:24417481)
Leads to increased expression of the pyriculol/pyriculariol biosynthesis cluster highly reducing polyketide synthase PKS19
RNAi-mediated knockdown results in a diffuse distribution of early, recycling and late endosomes and Golgi bodies and reduced intensities of markers for these organelles
Early flowering in both long and short days associated with reduced levels of FLC
Cells are incapable of growth on carnitine
No visible change in viability, fertility, development, body morphology or movement (PubMed:8582642). However, animals are approximately 9% larger after hatching than wild-type counterparts (PubMed:9508766). Mild defects in early embryonic cell development (PubMed:18652816). No visible change in lifespan, however in contrast to wild-type, longevity is significantly reduced in response to dietary restriction (PubMed:28853436). Furthermore, it suppresses the increased longevity and reduced nucleoli size of eat-2 (ad465), glp-1 (e2141), isp-1 (qm150), and daf-2 RNAi and let-363 RNAi longevity mutant models (PubMed:28853436). Most cells contain enlarged nucleoli, with the exception being intestinal and germline nucleoli, which are not markedly larger (PubMed:9508766, PubMed:8582642, PubMed:26492166, PubMed:28853436). In contrast to wild-type, the oocyte which is immediately adjacent to the spermatheca contains a nucleolus (PubMed:26492166). Nucleoli have an increased capacity for protein synthesis, specifically RNA polymerase I and III transcription (PubMed:9508766). Defective ribosomal biogenesis with increased expression of rRNAs such as 26S rRNAs, and ribosomal proteins including rps-6 and rsp-15 (PubMed:26492166, PubMed:28853436). Knockout with fib-1 RNAi suppresses the enlarged nucleolus phenotype in embryos and suppresses the increased 26S ribosomal RNA (rRNA) expression in the single ncl-1 mutant (PubMed:26492166). Double knockout with par-2 mutant (it5ts) suppresses the lethality phenotype, embryonic polarity defects of the par-2 mutant (it5ts) at 25 degrees Celsius (PubMed:18652816)
Blocks the synthesis of tropolone class of fungal maleic anhydrides downstream of stipitacetal (PubMed:24863423)
RNAi-mediated knockdown in the neurons, only dopaminergic neurons or only adult neurons increases transcription of the dopamine decarboxylase Ddc and thereby dopamine concentration (PubMed:35167135). In addition, induces male courtship propensity towards other males without altering male sexual preference towards females (PubMed:35167135). RNAi-mediated knockdown in muscle or fat body does not elicit male-male courtship (PubMed:35167135). Simultaneous knockdown of Ddc and myc restores increased dopamine levels and the induced male-male courtship observed in the single myc knockdown (PubMed:35167135). Simultaneous knockdown of dopamine receptor Dop1R1 and myc restores the induced male-male courtship observed in the single myc knockdown (PubMed:35167135)
Viable, although growth is retarded and neonate numbers are reduced (PubMed:22032925). In the placental labyrinth, formation of syncytiotrophoblast layer II (SynT-II) is abnormal with reduced cell fusion and progressive expansion of maternal blood lacunae(PubMed:22032925). Unfused SynT-II cells form dense plaque-like structures between adjacent cells, which resemble cell junctions and are associated with high expression levels of GJB6/connexin-30 (PubMed:22032925). Formation of syncytiotrophoblast layer I (SynT-I) is grossly normal (PubMed:22032925). Adult male mice have a 15% reduction in muscle mass compared to wild type, probably due to defects in myoblast fusion (PubMed:27589388). Double knockouts of Syna and Synb are embryonic lethal at stage 9.5 dpc to 10.5 dpc, indicating a more severe phenotype than the Syna single knockout (PubMed:22032925)
Embryos display severe systemic hemorrhage and mice are not viable dying perinatally. While T-cells development is not affected, the development of B-cells is impaired most probably at the pro-B to pre-B transition and mice lack mature B-cells
Impaired photoautotrophy (PubMed:17435084, PubMed:23027666). Seedling lethal (PubMed:23027666). High chlorophyll fluorescence phenotype and severely affected photosystem II (PSII) subunits accumulation associated with a drastically decreased synthesis of the reaction center protein D1 due to a reduced translation initiation (ribosomal loading) of the corresponding psbA mRNA (PubMed:17435084, PubMed:23027666, PubMed:30844105). Plants lacking both HCF173 and HCF244 display stronger PSII defects (PubMed:23027666)
No visible effect on growth until cells have been starved for 5 days; cells recover from starvation less well than wild-type and are dead after 14 days starvation. No 100S ribosomes are formed even in stationary phase
Production of 'obese' seeds characterized by increased weight, oil body density and higher fatty acid contents (PubMed:28663238). Increased sensitivity to abscisic acid (ABA) as well as salt (NaCl) and osmotic (e.g. in response to mannitol and PEG) stresses in term of seed germination and roots elongation (PubMed:26147561)
Mice were born at nearly Mendelian ratios, although the birth rate was slightly decreased (PubMed:32649882). Mice display genomic instability and premature aging (PubMed:32649882). Cells show an accumulation of DNA-protein cross-links (DPCs) (PubMed:32649882)
Plants are unable to regulate the amount of phosphate accumulated into shoots
No visible effect on vegetative growth, heat resistance of spores or their germination properties
Homozygous mutants from the first generation do not show any visible phenotype. Crossing homozygotes mutants together leads to lethality in around 70% of their progeny, because embryos do not developed past the one-cell stage. This lethality is probably mediated by defective sperm males. Defects are due to impaired decay of N6-methyladenosine (m6A)-modified maternal mRNAs, leading to impede zygotic genome activation. Embryos fail to initiate timely maternal-to-zygotic, undergo cell-cycle pause and remain developmentally delayed
Does not affect the production of fumonisins B1 and B2, but strongly decreases the production of fumonisin B3 (PubMed:12620260)
Not essential for growth in culture, however required for growth in vivo in guinea pig infections. Note strain ATCC 35723 is virulent whereas ATCC BAA-935 is not
Not essential for growth on low light, loss of circadian cycle and rhythmicity (PubMed:9727980). Cells elongate (PubMed:26113641, PubMed:28302851)
RNAi-mediated knockdown abolishes fertilized egg production and there is no egg laying, but animals do produce oocytes (PubMed:28449065). RNAi-mediated knockdown causes a 25% decrease in the rate of oxygen consumption suggesting decreased mitochondrial respiration (PubMed:28449065)
Mouse embryos display primary microcephaly characterized by significantly shorter cortex lengths, cortex-midbrain midline lengths and cortex widths. Mice do not show a renal phenotype
Results in smaller animals with mild decreased motor skills, enhanced working spatial and recognition memory, and increased longevity (PubMed:17210671, PubMed:23838831, PubMed:24911525). Increases global and regional cerebral blood flow (PubMed:23838831). Increases lactate levels in blood and brain, and increases glucose consumption in the brain (PubMed:17210671, PubMed:23838831, PubMed:24911525). Increases hydrogen peroxide production and succinate dehydrogenase (SDH) activity, but decreases COX activity and respiration (PubMed:17210671, PubMed:21167962, PubMed:23838831, PubMed:24911525). In the brain, increases Hif1a and phosphorylated cyclic AMP response element-binding protein levels (PubMed:23838831). In the brain, increases resistance to calcium-related excitotoxic brain damage (PubMed:17210671). In skeletal muscles, results in mitochondrial unfolded protein response (PubMed:24911525). In the heart, results in elevated Nfe2l2 and Hmox1 expression (PubMed:24911525). Primary cultures of mutant neuronal cells show reduced sensitivity to glutamate-induced cytosolic calcium signal and impaired mitochondrial calcium uptake without changing the mitochondrial structure and membrane potential (PubMed:17210671). Primary cultures of phrenic and central vagus nerves show increased respiratory frequency and altered response to systemic hypoxia and hypercapnia (PubMed:21167962)
No obvious morphological alterations. Enhanced growth and survival under water or salt stress. Enhanced H(2)O(2) production. Elevated abscisic acid levels and reduced stomatal aperture
No visible phenotype on cell wall acetylation in single mutant (PubMed:21212300). Severe growth phenotypes (e.g. dwarf and abnormal flower organs) associated with reduction in the secondary wall thickening and the stem mechanical strength in the quadruple mutant rwa1 rwa2 rwa3 rwa4 and characterized by reduced xylan acetylation and altered ratio of non-methylated to methylated glucuronic acid side chains. Absence of interfascicular fibers and xylem cells differentiation (PubMed:21673009, PubMed:24019426). The triple mutants rwa1 rwa2 rwa3, rwa1 rwa3 rwa4 and rwa1 rwa2 rwa4 are also dwarfs with abnormal morphology. Altered O-acetylated xyloglucans (XyG) oligosaccharides (XyGOs) composition (PubMed:24019426)
Disruption confers partial resistance to cellular contact-dependent growth inhibition (CDI) CdiA-2 of B.pseudomallei strain 1026b, but not to endogenous CdiA. Increased binding to B.pseudomallei strain 1026b inhibitor cells
Embryonic lethality. Embryos cease to develop prior to 6.5 dpc. Reduced assembly of 60S ribosomes and accumulation of halfmer ribosomes
The double mutant ktn80.3 ktn80.4 exhibits normal growth, but the quadruple mutant ktn80.1 ktn80.2 ktn80.3 ktn80.4 has a severe dwarf phenotype, with small and round dark-green rosette leaves as well as wide and short petioles, probably due to cell elongation defects, and associated with a complex cortical microtubule (MT) network with stable entanglements (PubMed:28978669). Plants missing KTN80s have a disruption of KTN1 recruitment at MT crossover or branching nucleation sites, leading to an abolishment of MT severing (PubMed:28978669)
Reduction in brood size at adulthood. Abnormal tail structure, and loss of the T-cell derived rays, R7-R9, of the male-specific sensory rays, but ray sensory function remains intact. Combined with ykt-6 knock-down causes reduced seam cell leading to loss of ray phenotype. At cellular level, reduced expression of Golgi-resident proteins like mannosidase II, and more so in combination with ykt-6 knock-down
Leads to fluffy and albino colonies, and reduced conidia formation, when all 6 genes ctpA to ctpF are deleted
No effect on autoaggregation
Slight reduction of shoot mass
Flies exhibit poor synchronization to light-dark cycles and show no response to brief light pulses. Mutant abolishes rhythmic tim and per expression in photoreceptor and glial cells, but not within certain pacemaker neurons of adult brain
Knockout mice are viable and exhibit no discernible phenotypes in the overall liver architecture and hepatocytes (PubMed:30374053, PubMed:32380568). However, they display impaired hepatic regeneration with reduced Wnt signaling (PubMed:32380568). Knockout mice also show a suppression of intestinal tumorigenesis (PubMed:30374053)
Blocks the ergot alkaloid pathway at festuclavine, and downstream products are eliminated (PubMed:26972831)
Loss of NAADP-mediated calcium release (PubMed:19387438). Mutant mice are highly susceptible to hepatic cholesterol overload, have hyperlipoproteinaemia and liver damage consistent with non-alcoholic fatty liver hepatitis (PubMed:25144390). TPCN1 and TPCN2 double knockouts are viable, fertile, have no obvious morphological abnormalities, and no obvious behavioral defects. After fasting for 3 days, they are less active and endurance performance is reduced by 8.3 fold in contrast to wild-type littermates that show no changes. Two days after re-introduction of food, mutants regain endurance and become as active as before fasting (PubMed:23394946)
Early embryonic lethality. Conditional knockout mice show a dramatic depletion of cellular phosphatidylinositol 4-phosphate (PtdIns(4)P)
Morpholino knockdown of the protein has no visible phenotype. Morpholino knockdown in animals homozygous for the c14 allele suppresses the c14 phenotype
Morpholino knockdown of nup85 results in abnormal pronephric development characterized by underdeveloped to completely absent pronephros
RNAi-mediated knockdown causes embryonic lethality; onset of lethality is delayed by 12 hr in a caspase ced-3 mutant background (PubMed:10619028). Extremely disorganized gonads, including many nuclei without mitochondria, large clusters of mitochondria without nuclei and cells without either nuclei or mitochondria (PubMed:10619028). Substantial increase in mean lifespan in age-1 mutant background (PubMed:21463460). Substantial increase in mean lifespan in daf-2 mutant (PubMed:21463460)
Mutant plants produce grains with reduced size
Disruption of the gene results in a complete loss of DTDB degradation. Mutant cannot grow with DTDB as the sole carbon source
No visible phenotype under normal growth conditions, but mutant seeds have decreased germination rate in presence of abscisic acid (ABA) or salt, compared to wild-type
The deletion mutant is barely able to use D-2-HG for growth and displays a relatively slower growth in a medium containing glucose. Cells lacking this gene also show high accumulation of extracellular and intracellular D-2-HG (PubMed:28827360). Moreover, the mutant strain loses the ability to utilize D-malate for growth (PubMed:30131334)
Mutant mice exhibit behavioral changes involving learning and memory deficits
Accumulation of proglutelins in seed endosperm (PubMed:24488962). Mistargeting of dense vesicles (DVs) to the type II protein bodies (PBII) protein storage vacuoles and reduction of PBII size in endosperm. Formation of paramural bodies (PMBs) secretory vesicle-like structures charged with DVs in endosperm (PubMed:24488962)
Loses the ability to produce yanuthone D (PubMed:24684908)
Mutants exhibit an increased sensitivity to heat shock but only in the exponential phase of aerobic growth
Complete embryonic lethality, due to defects in neural tube closure. Mice suffer from exencephaly and severe malformations of the spinal cord and the dorsal root ganglia. In addition, mice display poorly developed eyes and polydactyly
Lack of Phe and Tyr accumulation after blue light irradiation of etiolated seedlings
Delayed development including late seed germination and cotyledon greening as well as delayed flowering time, short roots and mildly curled rosette leaves in long-day conditions, thus leading to extended life span (PubMed:21623974, PubMed:28262819). Reduced root length is associated with a smaller size of the root apical meristem (RAM) due to a decreased cortical cell number (PubMed:28262819). Reduced mitochondrial complex I abundance and activity. Lower levels of complex I subunits NAD9 and FRO1, but induced expression of the alternative oxidase (AOX) (PubMed:21623974). Reduced splicing efficiencies for both the trans-spliced intron 2 and the cis-spliced intron 3 of ND2/NAD2 mRNA (PubMed:21623974, PubMed:28262819). Increased capacities for import of nucleus-encoded mitochondrial proteins into the organelle and moderately increased mitochondrial transcript levels (PubMed:21623974). Increased plant responses to abscisic acid (ABA) during seed germination and post-germinative growth (PubMed:28613105). Augmented DNA damage response (DDR) associated with increased intracellular reactive oxygen species (ROS) levels and cell cycle arrest at the G2/M checkpoint in the root apical meristem (RAM), thus leading to root growth retardation (PubMed:28262819)
Reduced lignin content and rigidity of the floral stems
RNAi-mediated knockdown causes 94 percent embryonic lethality when injected compared to 20 percent when fed. Partially rescues embryonic lethality in gain of function mei-1 (ct46) mutant background
Leads to complete loss of verlamelin production (PubMed:24848421)
Deletion mutant grows at a normal rate and has a normal cell envelope lipid profile, but shows altered lipid profiles during biofilm maturation (PubMed:31471317). Mutant is attenuated in macrophages, but growth is restored when host CBL is removed (PubMed:30118682)
No visible phenotype. Mice are fertile and healthy. In contrast, mice lacking both Brsk1 and Brsk2 show little spontaneous movement and are only weakly responsive to tactile stimulation: they die within 2 hours of birth. Defects are due to impaired neuronal differentiation and polarity
Mutant mice have smaller spleen, fewer splenocytes, reduced IgM production and secrete less IFNG, during antigen re-stimulation (PubMed:19414744). Double RFTN1 and RFTN2 mutant mice show no visible phenotype under pathogen-free conditions but show greatly reduced IFNB1 production in splenic dendritic cells following poly(I:C) or LPS stimulation (PubMed:27022195)
No visible phenotype in both normal and dehydration conditions
Increase in body weight of mice at 20 weeks of age, at 23 weeks of age only female mice show an increase in body weight and lean mass as a result of an increase in muscle mass (PubMed:29440408). Increase in the weight of kidneys in both male and female adult mice with an increase in the weight of the liver in female mice (PubMed:29440408). Decrease in plasma insulin levels with an increase in blood glucose clearance and increased reliance on carbohydrates as a fuel source in male mice (PubMed:29440408). Increase in serum IGF2 protein levels in adult mice (PubMed:29440408). Increase in expression of IGF2, PGAP6/TMEM8, and ENHO in skeletal muscle (PubMed:29440408). Expression of ENHO and PIANP also increases in the heart and kidney, in addition to an increase of PGAP6/TMEM8 expression in the heart (PubMed:29440408). Significant increase in expression of PGAP6/TMEM8 and ENHO in fetal muscle tissue with a small marginal increase in IGF2 expression (PubMed:29440408)
Mice do not display overt phenotype
Abnormal embryogenesis. Defective seedlings with high levels of reactive oxygen species and monoubiquitinated LHCB4 precursors (PubMed:20028838). No visible phenotype under normal growth conditions (PubMed:28004282)
In C57BL/6 mice infected with knockout tachyzoites (type II strain Prugniaud), the number of cysts formed in the brain is severely reduced compared to infection with wild type tachyzoites (PubMed:27165797). Parasite virulence is not affected (PubMed:27165797). In vitro, the ability to differentiate to cyst stages is normal (PubMed:27165797). In BALB/c mice infected with knockout tachyzoites (type I strain RH), virulence is not affected (PubMed:28174572). At the tachyzoite stage, loss of the intravacuolar network (IVN) tubules which appear to be replaced with large multilamellar vesicles (PubMed:30850550). Partial or complete loss of phosphorylation of several parasitophorous vacuole (PV) proteins including GRA6 and GRA7 (PubMed:30850550). Reduces PV membrane association of GRA2, GRA4, GRA6 and GRA7 (PubMed:30850550)
Hermaphrodites arrest after the first molt and die after at most 6 days. Most animals appear L2-like with morphologies of gonads and vulva that are out of step with the developmental stage. Mutants have a dilated intestinal lumen with extensive internal folding associated with the accumulation of undigested bacteria and a shortened excretory canal. Some animals have adult-type alae and are sterile with vulva and germ line formation defects (PubMed:20595048). In RNAi-mediated knockdown, impaired survival and slower volume recovery upon hypertonic stress (PubMed:17596296)
Cells lacking this gene do not grow at all in glycerol-containing medium, and exhibit a significantly reduced formation of hydrogen peroxide and a severely reduced cytotoxicity
No obvious vulval development defects (PubMed:8054684, PubMed:11463372). Double knockout with the synthetic multivulva class A protein lin-15A results in a multiple vulva (Muv) phenotype (PubMed:8054684). Double knockout with the programmed cell death regulator mcd-1 results in 100% lethality during the L1 stage of larval development (PubMed:17237514)
No visible phenotype under normal growth conditions, but plants lacking HPL1 cannot synthesize the green leaf volatiles (GLVs) hexanal and trans-2-hexenal
Mice are born at the expected Mendelian rate and show no obvious phenotype. Mutant mice do not display analgesia after treatment with the synthetic agonist U-50,488H. Unlike wild-type mice, they do not show reduced locomotion and increased salivation in response to the synthetic agonist U-50,488H
Abolishes the production of fusarielins F, G and H, but accumulates the intermediate prefusarielin
About 25% decreased adherence to human HEp-2 cells, about 50% decrease in binding to immobilized fibronectin. HEp-2 cells treated with mutant bacteria secrete less IL-6 and IL-8, activate ERK and p38 more slowly and to a lesser extent than with wild-type bacteria
Plants develop deformed and inviable pollen grains which do not have exin
Mutants are viable but have greatly reduced levels of augmin complex subunit Dgt2 (PubMed:19289792). Mitotic progression is delayed but is not blocked before anaphase onset and chromosomes are properly segregated (PubMed:19289792). 7% of meiotic chromosomes in spermatids are missegregated (PubMed:19289792). Mutant males are fertile but mutant females are sterile, developing fully mature ovaries but laying eggs that fail to hatch (PubMed:19289792). Chromosome positioning and segregation are disrupted in oocytes (PubMed:19289792). Chromosome spreading in oocytes following nuclear envelope breakdown is not limited as in wild-type and instead is spread along the spindle axis (PubMed:23785300). Significant increase in the frequency of oocyte spindles with a missing or weak spindle pole (PubMed:23785300). Delayed spindle formation in spermatocytes during male meiosis (PubMed:24829288)
Slightly delayed flowering time. Triple mutants tom20-2-tom20-3-tom20-4 are viable
Null mice are viable but exhibit increased cell membrane ceramide and decreased sphingomyelin levels. In both skeletal muscle and adipose tissue, there is a significant increase in glucose uptake. This leads to increased insulin sensitivity and ameliorated high-fat diet-induced obesity. There is blunted NFKB1- and MAP kinase-mediated responses to inflammatory stimuli and macrophages display increased cholesterol efflux into blood circulation. Liver SMS activity is markedly reduced (by about 80%) but only small change in macrophage SMS2 activity (16%). No change in glycosphingolipid levels in plasma. Atherosclerosis in SMS2(-/-)/LDLR(-/-) mice is significantly decreased
Strongly reduces de degree of mannosylation of the core glycans and eliminates glycans resistant to alpha-1,2-mannosidase treatment
Cells lacking the msrPQ genes display no visible growth defect
Disruption of this gene increases outer membrane permeability in response to CAMP
Male sterility due to lack of tapetal programmed cell death (PCD), delayed tapetal degeneration, abnormal pollen wall formation and aborted microspore development
Disruption of the pps gene cluster abolishes the production of both phthiocerol and phenolphthiocerol derivatives (PubMed:9201977). Deletion of the gene abolishes the synthesis of phthiocerol dimycocerosates (DIM) (PubMed:19197369)
Leads to the loss of apicidin F production but accumulates apicidin K (PubMed:25058475)
Leads to the accumulation of the monomeric compounds fonsecin B and flavasperone
Decreases adhesiveness of cells to polystyrene. No change in the amount of AtaA associated with the cell outer membrane, but greatly reduced amounts of correctly targeted AtaA; significantly decreased AtaA immunofluorescence and nanofibers on the cell surface, and greatly increased amounts of AtaA passenger domain in the periplasm. No visible change in the amount of Omp38 in the outer membrane
Viable, and develop into fertile adults, but their progeny arrest before embryonic morphogenesis (PubMed:27558849). Defective endosome/lysosome size and fusion, and delayed endocytic trafficking to lysosomes in coelomocytes (PubMed:26783301, PubMed:27558849). Reduced number of gut granules in the adult intestine (PubMed:24501423, PubMed:27558849). RNAi-mediated knockdown results in a reduced number of gut granules in embryonic intestinal cells (PubMed:24501423). RNAi-mediated knockdown results in the accumulation of lysosomal proteins such as lmp-1 in early endocytic compartments, and the formation of large late endosomes/lysosomes, but with simultaneous expression of rab-5- and rab-7-positive vesicles on the basal side of gut cells (PubMed:25273556). Double RNAi-mediated knockdown together with vsp-33.2 results in defective protein trafficking to lysosomal compartments, and an irregular distribution of vesicles of various sizes throughout the gut cells. RNAi-mediated knockdown in a sand-1 mutant background results in no viable offspring (PubMed:25273556). Double RNAi-mediated knockdown together with vsp-33.1 in a sand-1 mutant background rescues the large endosome phenotype and the defective protein trafficking to lysosomal compartments in the sand-1 single mutant, but still results in lethality (PubMed:25273556). Double knockout with tbc-2 or single knockout in a constitutively active rab-5 mutant background, rescues the large endosome formation defect in coelomocytes in the individual tbc-2 single and constitutively active rab-5 mutants (PubMed:27558849)
Fishes develop normally for the first 4 days as they can rely on maternal transcripts present in the fertilised egg, but they all die of multisystem defects by nine days post-fertilization (dpf)
Increased sensitivity to abscisic acid (ABA) and salt
No visible phenotype: mice are viable and females are fertile (PubMed:31598710). Mice lacking Zar1 and Zar1l oocytes display delayed meiotic resumption and polar body-1 emission and a higher incidence of abnormal meiotic spindle formation and chromosome aneuploidy (PubMed:31598710). The grown oocytes of Zar1 and Zar1l mutant mice contain decreased levels of many maternal mRNAs and display a reduced level of protein synthesis (PubMed:31598710)
Essential for growth, it cannot be disrupted. In depletion experiments cells become 1.5 to 2-fold longer and nucleoid distribution is dispersed. The number of replication origins increases, suggesting an increase in chromosome replication
Mice lacking Rnf135 develop and breed normally (PubMed:21147464). They are susceptible to RNA viruses infection (PubMed:21147464)
RNAi-mediated knockdown in female causes spontaneous melanization leading to the formation of melanotic pseudotumors and a shortening of lifespan; spontaneous melanization is reduced in a SRPN2 and CLIPB9 or SRPN2 and CLIPB10 mutant backgrounds (PubMed:16113656, PubMed:20953892, PubMed:33520733). During the mosquito midgut infection by the rodent malaria parasite P.berghei, severely reduces oocyst numbers due to an increase in ookinete lysis and melanization (PubMed:16113656). Does not affect ookinete formation (PubMed:16113656). Causes proteolytic cleavage of CLIPA28 and CLIPC9 in absence of E.coli infection (PubMed:33045027)
Null mice die around embryonic day 11 and exhibit abnormal angiogenesis. Defects are observed in branchial arches and there is remarkably impaired vascular development of embryos and yolk sacs. Exogeneous VEGF on FOX1-deficient endothelial cells show markedly different morphological response. Active osteocalcin/BGLAP as well as serum insulin and beta-cell and gonadal fat levels were increased, but there is no change in total fat content, lean mass, and body weight. Effect on RUNX2 activity was inhibited. FOXO1 and ATF4 double happlo-insufficient mice exhibit also an increase in insulin levels and beta cell proliferation, but there is an increase in insulin sensitivity demonstrated by an increase in expression of insulin-sensitizing hormone adiponectin. Gonadal fat levels and adipocyte numbers were decreased. Osteocalcin/BGLAP levels were unchanged
Mutant is unable to grow with propionate-HCO(3)(-) as the carbon source. However, the mutant can grow normally with succinate or acetate as the carbon source
Altered thylakoid membrane lipid composition and stunted phenotype; this phenotype is reversed by the dgs1-1 gain-of-function mutation
Abolishes the production of cercosporin but accumulates the naphthopyrones nor-toralactone and toralactone, as well as the oxidation product of nor-toralactone, naphthoquinone (PubMed:17074519, PubMed:26938470). Adopts a dark yellow-brown coloration, with slight export of pigmented metabolites into the agar (PubMed:26938470)
Leads to intracellular accumulation of clotrimazole and increases the susceptibility to clotrimazole but also to other imidazoles such as miconazole, ketoconazole, and tioconazole; as well as triazoles such as itraconazole and fluconazole (PubMed:26512119). Increases also susceptibility to other antifungal drug families such as the polyene amphotericin B, the pyrimide analog flucytosine, the fungicide mancozeb, and the polyamine spermine (PubMed:26512119). Decreases virulence in a Galleria mellonella model of infection, limits the survival when exposed to phagocytosis and impairs biofilm formation by decreasing the expression ofthe adhesin encoding genes ALS1, EAP1, and EPA1 (PubMed:27780306)
No effect on sporulation as single mutant, but when associated with deletion of kinA, sporulation efficiency is significantly decreased
Lethal when homozygous. RNAi-mediated knockdown causes severe developmental defects in seedlings failing to develop beyond the four-leaf stage
Loss of RecBCD enzyme exonuclease activity, no effect on recombination proficiency or resistance to DNA-damaging agents (PubMed:10840065, PubMed:3526335). Cells can be transformed with retron Ec48-containing plasmids (PubMed:33157039)
Embryonic lethal with cells differentiating, but failing to become organized (PubMed:11877381). The external hypodermal cells fail to spread over and enclose the embryo, but instead cluster on the dorsal side (PubMed:11877381). In one study, animals are viable and there is defective extension of body wall muscle connections or arms towards the ventral nerve cord (PubMed:27123983). In this same study, double knockout with madd-3 results in severe muscle arm extension defects (PubMed:27123983). RNAi-mediated knockdown results in reduced egg laying and in defective endocytosis by oocytes characterized by an accumulation of aggregated yolk protein in the pseudocoelomatic space (PubMed:19798448)
Morpholino lockdown of the gene in 2 days post-fertilization (dpf) larvae show a dose-dependent significant reduction in the length of the terminal nerve axons, which provide the scaffold for migrating GnRH neurons towards the hypothalamus. In addition, there is a significant reduction in the size of the olfactory bulb
In males and hermaphrodites, late-onset paralysis of muscular functions required for locomotion and defecation. In addition, hermaphrodites show a progressive egg-laying defect, resulting in intrauterine hatching and premature death. Vulva protrusion is often observed with occasional rupture resulting in the projection of internal organs
RNAi-mediated knockdown in cells of the pi uterine cell lineage results in impaired basement membrane mobility (PubMed:27661254). Knockdown on a glp-1 mutant background impairs octanol response when animals are shifted to the restrictive temperature (PubMed:21549604)
RNAi-mediated knockdown results in reduced survival
RNAi-mediated knockdown, on an RNAi-sensitized rrf-3 genetic background, causes sluggish movement, abnormal morphology and low brood size, whereas when RNAi is targeted mainly at muscle, animals move normally and have healthy body morphology
Deletion mutant grows less well than wild type on minimal medium with ammonium as nitrogen source and cannot grow on 5-oxoproline. Mutant lacks 5-oxoprolinase activity and accumulates 5-oxo-L-proline
No alteration in cell division
The sgr3-1 mutant has a reduced gravitropic response in inflorescence stem but a normal gravitropic response in hypocotyls. Reduced formation of vacuolar membrane 'bulbs'
Loss-of-function mutation results in the loss of the hypersensitive response leading to broad spectrum disease resistance, and displays a lesion-mimic phenotype
Produced cells are larger and a large amount of them contained more than two nuclei
Cells lacking this gene display a strong clockwise motor bias; in combination with a yhjH disruption and overexpression of ycgR, cells switch from clockwise to a counterclockwise bias
Embryonic lethality and sirenomelia were observed only in BMP null embryos in which one or two copies of TSG were also missing. When TSG and BMP7 are mutated, the siren phenotype results from the fusion of the limb buds in the ventroposterior midline owing to a paucity of posterior ventral mesoderm
Embryos are sensitive to deformation by gravity and display a markedly flattened body. Mutants show delayed blastopore closure and progressive body collapse from mid-neurulation, surviving until just before hatching (6 days post-fertilization, dpf). During body collapse, tissues and organs including neural tube and somites become gradually flattened and improperly aligned
No visible phenotype under normal growth condition. In case of infection, plants are altered in RPS2-mediated disease resistance
Disruption of the gene increases susceptibility to fosfomycin. Disruption also results in impaired biofilm formation and decreased virulence
Normal magnetic response, normal magnetosomes (PubMed:24816605). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
No effect on extracellular glucosyltransferase activity, nor on growth characteristics. Deletion does however alter cell surface appearance, making cells rougher at 41.5 degrees Celsius. They are also slightly less adhesive on hydroxyapatite
Lacks acid trehalase activity and decreases hypha formation and infectivity
Increased lateral branching
Mice are viable and fertile and show no abnormal phenotype (PubMed:28629946, PubMed:29027957). However, upon dietary administration of phytol, phytanic acid accumulated in tissues, mainly in liver and serum of deficient mice. As a consequence of phytanic acid (or a metabolite) toxicity, deficent mice display a significant weight loss, absence of abdominal white adipose tissue, enlarged and mottled liver and reduced hepatic glycogen and triglyceride (PubMed:28629946). The presence of an other lyase, probably HCL2, can partially compensate for the lost of HCL1 (PubMed:28629946)
Mice lack motile respiratory tract cilia and exhibit randomization of the left-right body axis due to loss of motile cilia in the embryonic node (PubMed:9739041, PubMed:10873152). Motile type cilia with a '9 + 2' microtubule ultrastructure are absent in epithelial cells, including those in the airways (PubMed:10873152)
Mutant is defective in taxis toward L-Gln. Mutant shows also decreased chemotactic responses to TCE, chloroform and methylthiocyanate (PubMed:16233808, PubMed:9353923). The deletion mutant does not show significant reduction in swarming or immobilization near epithelial wounds, but the pctABC triple deletion mutant shows a significant reduction in chemotaxis and immobilization along wounds of human cystic fibrosis airway epithelial cells (PubMed:27031335)
A kaiB2-kaiC2 deletion mutant cannot be made
Strongly reduces virulence (PubMed:17138696)
Impairs the production of paxilline (PubMed:11169115, PubMed:23949005)
No visible phenotype under normal growth conditions (PubMed:27748769). Roots of plants lacking LAZY2, LAZY3 and LAZY4 exhibit a negative gravitropic response, and grow upward in the opposite direrction of root gravitropism (PubMed:27748769)
Lethal, when homozygous
Inactivation increases mouse survival
Leaves of plants lacking GPX3 are 1 degree Celsius lower than normal plants, whereas leaves from plants over-expressing GPX3 are 1.2 degrees Celsius higher, probably because of the impaired evapotranspiration
RNAi-mediated knockdown causes a reduction in lifespan (PubMed:19822669). Induces ER stress characterized by the expression of hsp-4, the accumulation of ubiquitinated proteins and an increase in ubxn-4 expression (PubMed:19822669). Mutants display increased homologous recombination repair in response to DNA damage compared to wild-type worms (PubMed:30612738). Worms lacking both POST (F36D4.5) and ubql-1 have a shorter lifespan and display an accumulation of ubiquitinated proteins in the nucleus (PubMed:29666234)
Results in severe sensitivity against cell wall-disturbing compounds congo red or calcofluor white, and drastic alterations of the fungal morphology (PubMed:19715768). Impairs phosphorylation of mpkA (PubMed:19715768)
Small plants with mishaped cotyledons and leaves. Reduction of the number and the size of lateral roots. Increased sensitivity to sugar, cytokinin and abscisic acid (ABA). Early flowering under short day (SD) conditions
Complete embryonic lethality. Embryos are present at the expected Mendelian rate at 10.5 dpc, but all are dead by 12.5 dpc. Mutant embryos display decreased growth, delayed neural tube closure, incomplete axial turning, pericardial effusion and a failure to form an organized, functional vascular network. Mutant embryos have reduced protein levels of FBXW7, RBX1, CUL1, CUL2, CUL3 and CUL4A, due to increased proteasome-mediated degradation, and increased levels of CCNE1 and MYC
Normal magnetic response, fewer, larger magnetosomes; cells accumulate 20% more iron (PubMed:24816605). Deletion of the 4 gene operon (mms6, mmsF, mms36 and mms48) gives an intermediate magnetic response with fewer, smaller magnetosomes in irregular pseudo-chains (PubMed:22043287, PubMed:24816605). Deletion of approximately 80 kb of DNA, including this gene, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Reduced nicotine but increased anatabine contents; these phenotypes are enhanced upon treatment with jasmonic acid (MeJA) and wounding (e.g. removal of apices)
Cells lacking this gene are partial coenzyme M auxotrophs; they grow poorly in the absence of coenzyme M and retain less than 3% of the wild type level of coenzyme M biosynthesis
Extreme phenotype with disrupted cell elongation and a highly compressed apical-basal axis due to disorganization of the interphase microtubule array and lack of the preprophase band before mitosis. Sterile flowers
Worms exhibit slow growth and sterility caused by germline proliferation defective phenotype (Glp) or proximal germ cell proliferation abnormal phenotype (Pro)
Mice exhibit hyperoxaluria with hyperoxalemia, nephrocalcinosis and calcium oxalate stones in their renal tubules and bladder (PubMed:20160351). They also display hypersulfaturia, hyposulfatemia and enhanced acetaminophen-induced liver toxicity (PubMed:20160351)
Mutants lose phage DMS3 infection-dependent inhibition of biofilm formation while there is normal biofilm formation in the absence of phage infection. Loss of production of crRNA in the presence or absence of phage. Disruption of the entire Y.pestis-subtype CRISPR region disrupts crRNA production but does not alter phage resistance (possibly OLNs PA14_33350 to PA14_33310, and the flanking CRISPR loci), indicating this CRISPR is not involved in phage resistance
Abolishes the production of arthrobotrisins A to D and arthrosporol A, and accumulates 6-methylsalicylic acid (PubMed:27723963, PubMed:33823587). Leads to altered growth rates and the development of much more fluffy aerial hypha (PubMed:27723963). Shows significantly increased ammonia levels in fungal mycelia (PubMed:33823587)
Plants have cubical adaxial epidermal pavement cells and show a loss of root stem-cell population due to a colapse of the root meristem. Pollen development is also compromised
Increased tolerance to drought stress
Defects in female gametophyte development
No effect on germination
Cells lacking this gene show no methylmalonyl-CoA mutase activity, in contrast to wild-type
No visible phenotype under normal growth conditions, but mutant plants are unable to produce N5-acetylornithine in response to methyl jasmonate
RNAi-mediated knockdown results in a growth defect
Flies exhibit trehalose-specific physiological and behavioral defects (reduced response by chemosensory neurons of the labellar taste hairs)
Chloroplast development defect, and leaf developmental abnormalities, such as virescent and serrated leaf phenotype, disorganized mesophyll cells, and altered cotyledon venation patterns
Cells lacking this gene produce antibiotic compounds (vanillobiocin, isovanillobiocin and declovanillobiocin) with a methoxy instead of the dimethylallyl group at the position 3 of the 4-hydroxybenzoic acid moiety of clorobiocin
Females are almost sterile: only 7 of 3024 eggs derived from mutant females develop into cleavage-stage embryos, as opposed to the majority of eggs from wild-type (PubMed:30190407). Both male and female fishes develop normally and are overtly healthy (PubMed:30190407). Males are fertile (PubMed:30190407)
Decreases the level of LYS1 protein
Leads to the loss of abilities to suppress pathogen-associated molecular patterns (PAMPS)-triggered immunity (PTI) in host cells
Flies are unable to jump or fly and walk slowly with an unstable gait. Occasionally they exhibit body and wing tremors while standing or walking
Mice are viable and healthy but show male sterility due to defects in spermatogenesis at early prophase of meiosis I (PubMed:20534472, PubMed:20547853, PubMed:23166510). Retrotransposons are derepressed due to DNA demethylation (PubMed:20534472). Defects are caused by impaired piRNA biogenesis during pachytene (PubMed:20534472, PubMed:20547853). The absence of pachytene piRNAs causes disruption of germ cell development and results in defects in post-meiotic genome integrity (PubMed:23166510). Mice do not show any cardiac abnormalities (PubMed:20547853)
Ciliary degeneration which is partly due to irregular localization of ciliary components (PubMed:24094853). This likely leads to the impaired intraflagellar transport of proteins along the ciliary axoneme during the later stages of larval development (PubMed:24094853). Lack of or defects in amphid cilia including no transition zone and axoneme structures in amphid wing neurons, enlargened dendritic endings, variable cilia length of ADL neurons, absent or irregularly orientated cilia of the AFD neuron and absent striated rootlets which are normally associated with cilia basal bodies and positioned at the base of cilia in IL1, OLQ and BAG neurons (PubMed:2428682, PubMed:17314406, PubMed:24094853). Behavioral defects including no obvious mating behavior, impaired dauer formation, osmotic and CO(2+) avoidance and impaired chemotaxis (PubMed:2428682, PubMed:24094853)
Mice lacking Cd4 display markedly decreased T-helper cell activity
Probably essential. In a depletion mutant growth rate is dramatically impaired, cells are short with bulbous poles and/or rounded internal regions
Cells lacking this gene show a reduction in transformation efficiency and in fraction of cells that express competence
Complete loss of PSII
No alteration in pathogenicity on tomato (S.lycopersicum cv Supermarmande) (PubMed:15225308), another study found decreased pathogenicity on eggplant (S.melongena cv. Zebrina, PubMed:20687809)
Embryos with CRISPR-induced slc39a14 null mutations display altered manganese homeostasis. This is associated with manganese deposition in the brain and altered locomotor activity. Mutants survived into adulthood without any obvious morphological or developmental defects
Increased rate of seed germination
Leads to calcium resistance and vanadate sensitivity
Impaired gene silencing due to decondensation of chromocenters leading to the derepression of DNA-methylated genes and transposable elements (TEs)
Abnormal establishment of heterochromatin (PubMed:31822915). Increased level of RNA-DNA hybrids (PubMed:31822915)
Flies display a reduction in size of the arista and scutellum, a reduction or complete absence of the tarsal claws, irregularities of the sternopleural bristles and of the wing vein, and a bending of the wing blade
Mutant animals exhibit a dramatically reduced survival after weaning, with 50% of survival at 9 weeks (PubMed:18724932) or 17 weeks (PubMed:15254239). In 6-8 week old animals, multiple organs show extensive inflammation. The most severe diffuse lymphocytic infiltration occurs in the heart, followed by the lung, the liver, the smooth muscle of the uterus and the salivary gland with periductal infiltration. Other tissues exhibit only minimal to mild lymphocytic infiltration (PubMed:24218451). The heart phenotype includes inflammatory myocarditis leading to progressive, often dilated, cardiomyopathy and circulatory failure. Enlargement of the spleen and lymph nodes is observed in less than 10% of old mice (over 1 year of age) (PubMed:15254239). Mutant animals have a reduced 3'-exonuclease activity. They accumulate ssDNA from endogenous retroelements and produce high levels of autoantibodies. Do not show an increase in spontaneous mutation frequency or cancer incidence. Double knockout of TREX1 and either IRF3, IFNAR1 or RAG2 fully rescues the TREX1 single knockout phenotype (PubMed:18724932)
Increased reduction of the ubiquinone pool (in aerobically grown minimal medium with glucose)
Mutant shows a dramatic reduction in chemotaxis for all ligands, but it does not affect response to casamino acids (PubMed:29391435). Mutant showed no attraction to malate at any of the concentrations tested (PubMed:17933940). Mutation does not affect plant root colonization (PubMed:29391435)
No visible phenotype; due to redundancy with CPN60B1. Cpn60B1 and cpn60B2 double mutant produces small albino seedlings
The fat-3 mutants lack detectable Delta6-unsaturated fatty acids and have decreased C20 fatty acids levels, these animals require an additional day of development before commencing egg laying (PubMed:11972048). Impaired synaptic vesicle (SV) recycling characterized by the presence of enlarged SV and the formation of abnormal endocytic membrane-bound structures at synapses. The number of SVs is reduced by 37 percent although SV production in neuron cell body and their transport to release sites are normal (PubMed:18094048)
Morpholino knockdown of the protein causes a delay in embryonic development and evident embryonic morphological abnormalities, resulting in a significant body shape alteration associated to microcephaly, microphthalmia, pigmentation defects and pericardial edema. A significant reduction in cilia length is observed
RNAi mutants display reduced seedling height phenotype, because of abnormal cell division
Disruption results in a drastically reduced methicillin resistance
Cannot be disrupted, suggesting it is a functional antitoxin. No visible phenotype when the parDE1 operon is deleted
No visible phenotype and no meiotic or pollen development defects. Pans1 and pans2 double mutants are lethal when homozygous
No visible phenotype. The action potential in myocytes is not prolonged by low concentrations of 4-aminopyridine, contrary to the situation in wild-type
Mutant mice are viable, reproduce normally and do not exhibit gross morphological defects (PubMed:12065660). Increased levels of intermediate filament proteins Vim in the spinal cord and Ina in L5 ventral roots, and a reduction in the number of L5 unmyelinated sensory fibers (PubMed:12065660). More and longer type II spiral ganglion neuron neurites during cochlear neuritogenesis at P1 (PubMed:20132868)
Displays resistance to potyvirus (PPV or LMV) infection. I4g1/i4g2 double mutants show reduced germination rates, slow growth rates, moderate chlorosis, late flowering, impaired fertility and reduced long term seed viability. They also exhibit altered responses to dehydration, salinity, and heat stress. The i4g1 and i4g2 double mutant has reduced amounts of chlorophyll a and b
Mutant is growth-deficient under aerobic conditions and is impaired to replicate at physiological and high temperatures (PubMed:21554724, PubMed:28559279). Mutant is defective for proliferation in macrophages and mice infection and has a severe attenuation in virulence in the murine model when inoculated both orally and intraperitoneally (PubMed:21554724, PubMed:28559279). Deletion inhibits colonization and invasion of four human cell lines, impairs flagella formation, activates the expression of type-1 fimbriae-like structures on the cell surface, enhances biofilm formation and reduces bacterial motility. The deletion mutant is menaquinone-deficient (PubMed:27777572)
Cells lacking RtxC do not show reduced toxicity (PubMed:19900531). However, the RtxA toxin displays reduced actin cross-linking activity (PubMed:19900531)
Short roots, disruption of microtubules and shrinkage of cells in the root elongation zone
Shorter circadian oscillations (PubMed:12015970, PubMed:19218364). The double mutant cca1 lhy accumulates higher levels of JMJ14 but lower levels of ATXR3/SDG2, and exhibits damped H3K4me3 levels near the transcription start sites of genic regions (PubMed:31429787)
Defects in nonsense-mediated mRNA decay (NMD)
Loss of cytochrome b595 and d from enzyme preparations (PubMed:3013298). A double cydA/cydB deletion shows increased sensitivity to reductant (beta-mercapoethanol) (PubMed:23749980). Greatly increased resistance to hydroxyurea, probably due to decreased OH radical formation as an electron transport chain is disrupted (PubMed:20005847)
No alteration in fatty acid composition
Knocked out mutant does not require any purine supplement for the growth and does not exhibit any growth defects in media containing hypoxanthine, guanine and adenine
Disruption of the gene decreases sulfanilamide resistance and blocks chloramphenicol production
RNAi-mediated knockdown causes derepression of X chromosome linked genes in embryos and in larval stages L1 and L3 (PubMed:26641248). Leads to an increase of 'Lys-16' acetylation of histone H4 (H4K16ac) on hermaphrodite X chromosomes (PubMed:22393255). In the TOR complex 2 mutant background rict-1, suppresses the growth delay and elevated body fat index (PubMed:23884442). In a sex-1 mutant background, leads to high XX-specific embryonic lethality (PubMed:19119011)
Leads to supersensitivity to hygromycin B. Impairs filamentation, significantly reduces adherence to endothelial cells, and shows reduced virulence in a mouse model of hematogenously disseminated candidiasis (HDC) and using reconstituted human epithelium (RHE)
Mutant shows a significant reduction in the ability to establish kidney or liver abscesses in infected mice
Reduced brood size, which is in part due to an abnormal distribution of male-derived sperm in the hermaphrodite uterus following mating, with sperm moving at a reduced velocity, reversing course frequently and accumulating at the spermathecal-uterine valve 1 hour following mating (PubMed:28662030). No visible defects in oogenesis (PubMed:28662030)
Displays photorespiratory chlorosis when grown at ambient CO2
Worms exhibit lack of intestinal gut granules
Cells lacking display impaired autophagy induction
Increased body weight and body fat, a phenotype amplified under high-fat diet
Abolishes the production of ditryptophenaline (PubMed:24677498)
RNAi-mediated knockdown disrupts X-chromosome localization of dpy-27, mix-1, dpy-26 and sdc-3. Results in chromosome segregation defects in mitosis leading to aneuploidy. In a sex-1 mutant background, leads to high embryonic lethality
Cells lacking both LJ_0548 and LJ_0549 completely lack the NADH-dependent flavin reductase activity detected in wild-type strain, and show a 40-fold reduction of hydrogen peroxide formation upon exposure to oxygen. Reductase activity and H(2)O(2) production in this mutant can only be restored by in trans complementation of both genes
Inactivation of the gene results in the inability of a proline auxotroph to utilize Pro-Gly as a proline source (PubMed:1702779). Inactivation of the gene has no effect on iron-heme utilization, but the double mppA dppA mutant is unable to use heme as iron source (PubMed:16905647)
Cells missing relBE have a higher steady-state level of translation during amino acid starvation than wild-type cells. They survive antibiotic treatment in log phase better than wild-type cells. Cells missing mazE-mazF survive hydroxyurea treatment better than wild-type; further disruption of relE-relB and tonB yields even better survival (PubMed:20005847)
No visible phenotype during vegetative growth. No effect on root nitrate influx. Decreased nitrate content in mature seeds and delayed germination
Completely abolishes the production of patulin
Deficient male display infertility with impaired sperm migration from uterus into oviduct and defective sperm-zona and sperm-egg recognition/binding. However, the mating activity, sperm production, sperm morphology, sperm motility, inducibility of AR, activity of acrosomal enzymes and in vitro sperm fertility are almost normal. Male show an absence of mature ADAM3 in sperm
RNAi-mediated knockdown severely impairs male fertility. Morphology of the sperm individualization complex is highly abnormal. Seminal vesicles contain very few mature spermatozoa, which are often bundled together. Female fertility is not affected
Accelerates decline of physical strength; at the age of 10 months, the physical strength is much lower than in the wild-type littermate (PubMed:27037278). Increased oxidative damage and decreased mitochondrial DNA copy number in skeletal muscles (PubMed:27037278). Increased apoptotic cells in the brain (PubMed:27037278)
Homozygous knockout mice are viable, fertile and do not display overt phenotype (PubMed:27875292). Male show a modest reduction in body weight (PubMed:27875292). Zdhhc3 and Zdhhc7 double knockout mice show a perinatally lethal phenotype (PubMed:27875292)
In the adult brain of mutants, the calyx, peduncle and the lobe system of the mushroom bodies are reduced, along with other neuropil structures in the central brain. The Kenyon cell body layer above and behind the calyces is thinner. Additionally these mutants have a rough eye phenotype and bristle malformations
Mutant animals exhibit marked forelimb and hindlimb amelia
Strong reduction of seed mucilage accumulation, associated with reduced absolute levels of rhamnose (Rha), galacturonic acid (GalA) and xylose (Xyl) but increased absolute abundance of minor sugars (e.g. galactose (Gal), glucose (Glc) and mannose (Man)) (PubMed:30228108). The double mutant muci70-1 gaut11-3 is completely defective in seed mucilage production and exhibits a strong release of minor sugars in total mucilage extracts (PubMed:30228108)
Aborted seed development
No visible phenotype at birth, but about 30% of the mice lacking one or both copies of Fhit died for unknown reasons at an age of about 19 months. This might be due to increased susceptibility to infections. Mice lacking one or both copies of Fhit show increased susceptibility to carcinogens
Impaired BIK1 pathogen-associated molecular patterns (PAMPs e.g. flg22)-induced ubiquitination
Cells lacking this gene do not express sialyltransferase activity onto LOS
Leads to increased susceptibility to cycloheximide, 4-nitroquinoline-N-oxide, and 1,10-phenanthroline, but not to actinomycin D, fluconazole, ketoconazole and colchicine (PubMed:12076781). Leads also to attenuated virulence in mice (PubMed:12076781)
Abnormal cell fate determination of several lineages. T.p daughter cells adopt a hypodermal cell fate instead of a neuronal cell fate resulting in the loss of the phasmid socket cell. Generation of ectopic PDE, AVM and PVM neurons, and distal tip cell (DTC) (PubMed:20181741, PubMed:24346701). In addition, ectopic egl-17 expression in multiple vulva precursor cells and ectopic che-22 expression in extra distal tip cells (PubMed:24349540, PubMed:24346701). Moderate increase in mpk-1 phosphorylation (PubMed:24349540). RNAi-mediated knockdown further suppresses the age-dependent paralysis phenotype of the spop-1 gk630214 or dr95 mutants (PubMed:34593637)
Delay in plant development due to reduced cell number and male sterility
Knockout mice show normal organization of the cerebral cortex with no significant differences in cortical white matter or callosal thickness (PubMed:24781755). Histological analysis of coronal brain sections at early and postnatal stages shows unilateral ventricular enlargement (PubMed:24781755)
Unable to differentiate heterocysts
Cells lyse at the division site and at sites of polarized growth
No visible phenotype. Suppresses max2 phenotypes associated with strigolactone-D14-regulated growth. Smxl8 and max2 double mutants have branching and inflorescence heights similar to max2 mutants
Aborted development of female gametophytes
RNAi-mediated knockdown at the procyclic stage does not cause defects in RHE2 interaction with H2F1 or their association with components of the RECC and GRBC editing complexes; however, causes a slight decrease in the association of the GRBC complex with the RECC complex (PubMed:26769962). No defect in mitochondrial mRNA editing (PubMed:26769962)
Mutant larval shows down-regulation of synaptic O-linked glycosylation, integrin level and signaling via Ten-m and if. Synapses show smaller synaptic boutons, expanded activity-dependent postsynaptic pockets which affect synaptic plasticity and synaptic strength in both the pre-synaptic and post-synaptic assembly, no differences in neuromuscular junction morphology (PubMed:25253852). Simultaneous knockout of Pgant3, restores normal synaptic strength (PubMed:25253852). RNAi-mediated knockdown is lethal (PubMed:22157008). RNAi-mediated knockdown in the mesoderm, respiratory system, digestive system or reproductive tract results in a reduction in viability (PubMed:22157008)
Morpholino knockdown of the protein causes curved body, a lack of defined brain structures or necrosis in the developing brain, and eye formation defects at 24 hpf. At 48 hpf, show a reduction in number of ciliated cells within the olfactory organ
Transiently impaired neurite extensions of several cranial nerves, including glossopharyngeal nerve, hypoglossal nerve, trigeminal nerve and acousticofacial nerves in the midembryonic nervous system at 10.5 dpc, however no developmental delays of the nervous system in later-stage embryos at 14 dpc are obvious (PubMed:15764704). By postnatal weeks 4 to 8, 70-80% of the mice exhibit an abnormal clasping reflex of the hind limbs upon being suspended by the tail (PubMed:15764704). Decreased motor coordination, as impaired performance on an accelerating rotarod is observed (PubMed:15764704). Embryonic neural stem cells exhibit enhanced cell renewal capacity and decreased ability to differentiate into neurons (PubMed:15764704). Failure of neural progenitor cells to leave the cell cycle, resulting in increased apoptosis and in reduced production of postmitotic neurons (PubMed:15764704). Increased number of slowly dividing cells in the subventricular zone (PubMed:15764704). High insulin levels in pancreatic beta cells (PubMed:22387028). At 28 dpc, a decreased number of lower layer neocortical neurons is observed and lower layer neocortical neurons and CA3 hippocampal neurons exhibit a decreased dendritic complexity with fewer basal and apical branchpoints, fewer branch endings and shorter basal dendrites (PubMed:24599466). Basal branching deficiency in neocortical lower layer neurons and in hippocampal CA3 neurons persists into adulthood at 90 dpc (PubMed:24599466). Increased time spent in low-energy-expending activities and less in the high-energy activity of locomotion, indicating an anxiety response (PubMed:24599466). Decreased performance in finding a hidden platform in a water bath (Morris water maze test), suggesting difficulty in learning, lack of avoidance of the open arm in a elevated plus maze test, suggesting an aberrant response to anxiety-producing environments, and higher susceptibility to auditory-induced seizures (PubMed:24599466). RNAi-mediated knockdown in the neocortex at 13.5 dpc results in reduced neurite outgrowth (PubMed:24599466). RNAi-mediated knockdown in neural stem/progenitor cells in the adult subventricular zone impairs early neuronal differentiation (PubMed:26305964)
Deletion mutant synthesizes GPL at a level similar to the wild-type strain, but is unable to transport it to the cell surface. GPLs are retained within the cytoplasmic compartment. Mutant is not able to slide
Defects in N-glycosylation pathway, characterized by impaired addition of the fourth sugar of the pentasaccharide: both dolichol phosphate, the lipid carrier used in H.volcanii N-glycosylation, and modified S-layer glycoprotein Asn residues only present the first three subunits of the pentasaccharide
Impairs gliotoxin biosynthesis and accumulates ergothioneine (PubMed:22903976, PubMed:26150413). Leads also to attenuated gliT abundance (PubMed:22903976, PubMed:26150413)
Mice were born at the expected Mendelian ratio, develop normally and are fertile (PubMed:35438208). Mice display increased resistance to infection by DNA viruses due to increased activation of the cGAS-STING pathway (PubMed:35438208)
Deletion leads to the loss of both chemotactic and phototactic responses
Mutant shows slower uptake of uridine. The double mutant uriP-nupA is impaired in uridine transport
Complete loss of fertility due to defect in meiosis
Morpholino knockdown is associated with increased Erk phosphorylation levels and results in a high incidence of embryos showing delayed gastrulation, or delay in elongation during the segmentation stage, with reduced formation of the head and tailbud. Morphants show yolk elongation at 12 hours post-fertilization, indicating enhanced MAPK signaling
Mice are viable and show no malformations. However, homozygous males exhibit complete male sterility due to severe defects in sperm mobility. Sperm from mutant mice exhibits teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. Females are fertile and give litters of normal size (PubMed:28552195, PubMed:29449551, PubMed:31884020). Mice display early onset hydrocephalus and severe mucus accumulation in the nasal cavity (PubMed:31884020)
Abnormal mitochondrial morphology with localized swellings and tubular extensions, and distended cristae. Double knockout with fzo-1 or eat-3 RNAi results in mitochondrial fragmentation. Double knockout with chch-3 results in reduced or no brood, poor growth and withered gonads which on a cellular level contain fewer mitochondria
High sensitivity to heat shock
In vdac1-6 homozygous plants, normal growth, but small siliques and decreased pollen germination rate and tube length
Worms are infertile because of the failure of the progeny of homozygous mutants to initiate cytokinesis and because of the failure to form an extracellular space between the egg and the eggshell
Exhibits significantly reduced virulence with smaller lesions on Nicotiana benthamiana infected leaves
Leads to increased number of conidia and reduced production of cleistothecia (PubMed:24587098). Increases expression of brlA, abaA, wetA and vosA genes that control sequential activation of asexual sporulation (PubMed:24587098)
Mice develop normally with males and females being fertile (PubMed:22433842). They however display transcriptional changes in genes of lipid and glucose metabolic pathways and substantial alterations in circulating blood parameters (PubMed:22433842). Moreover, mice exhibit an increase in body weight due to increased adipose mass, hepatic steatosis, decreased energy expenditure and impaired thermogenenesis (PubMed:22433842). Mice are protected against heart failure by averting cardiomyocyte death in different murine heart failure models (PubMed:29593106). Mice with a double, cardiomyocyte-specific gene disruption of Yme1l and Oma1 have normal cardiac function and do not display myocardial fibrosis, contrary to mice with a single, cardiomyocyte-specific disruption of Yme1l (PubMed:26785494). Likewise, cardiomyocyte mitochondria have normal morphology (PubMed:26785494). Mice with a skeletal muscle Yme1l gene disruption plus a double, cardiomyocyte-specific gene disruption of Yme1l and Oma1 display normal glucose tolerance (PubMed:26785494)
Causes increased sensitivity to unfolded protein response (UPR)-inducing agents
Abnormal mitochondrial function; decreases growth on glycerol (non-fermentable carbon source) (PubMed:16306692). Abnormal endocytosis and vacuole fusion (PubMed:16306692). Sensitive to copper, and dithiothreitol (PubMed:16306692)
Cells exhibit longer microtubules than normal. During mitosis, interphase microtubules and the spindle persist far longer than in wild-type cells
RNAi-mediated knockdown reduces expression of ugt-9 about 74% at 3 days and 95% at 7 days after adulthood (PubMed:18662544). Suppresses the longevity of long-lived mutants daf-2 or eat-2 (PubMed:18662544). Suppresses transcription of the gst-4 gene in a brap-2 mutant background (PubMed:28600327)
Decreases phosphatidylserine and phosphatidylethanolamine flippase activity in secretory vesicles; simultaneous knockout of DNF3 exacerbates the effect (PubMed:16452632). Abnormal vesicle-mediated transport to vacuole (PubMed:10601336). Abnormal proteolytic processing of proteins in the trans-Golgi network (PubMed:10601336). Contains abnormal clathrin-coated vesicles and leads to an accumulation of aberrant membranous material probably derived from the Golgi (PubMed:10601336, PubMed:14734650). Increases phosphatidylserine and phosphatidylethanolamine levels in the outer leaflet of the cell membrane (PubMed:16956384, PubMed:12631737). Abnormal endocytosis (PubMed:12631737). Sensitive to cold, duramycin and cinnamycin (phosphatidylethanolamine-binding cytoxins), papuamide A and B (phosphatidylserine-binding cytotoxins), cobalt, nickel, zinc, calcium, and magnesium ions (PubMed:10601336, PubMed:16956384, PubMed:19411703, PubMed:19898464, PubMed:19805341, PubMed:22308393, PubMed:23302692, PubMed:25393116, PubMed:27235400, PubMed:30824614). Simultaneous knockout of ARF1 results in inviability, and simultaneous knockout of GEA2 exacerbates cold sensitivity (PubMed:10601336, PubMed:14734650)
Decreases, but does not eliminate the ability to metabolize 2-benzoxasolinone (BOA)
Deletion neither impacts secretion of components of the H1-T6SS nor requires H1-T6SS components for its own secretion (PubMed:21325275). However, simultaneous deletion of all three vgrG genes (vgrG1a, vgrG1b and vgrG1c) totally abrogates bacterial killing (PubMed:24794869)
Embryo lethal when homozygote
Disruption experiments show that tgpA is essential
Mutant mice die during the first 12 hours after birth. Heart, lung, liver, intestinal tract, kidney and brain appear grossly normal, but the mice display skeletal abnormalities, with slightly shortened long bones in their limbs. The region of bone mineralization is reduced in scapula, humerus, ileum and femur. Besides, hyoid bone and atlas are hypoplastic. In the scull, the supraoccipital bone shows reduced mineralization, with increased distance between the frontal bones. The basioccipital bone displays an abnormal shape and is smaller than in wild-type. Ectopic cartilage nodules are detected within the skull midline sutures. Ectopic cartilaginous material is detected in the interfrontal and sagittal suture regions between the frontal and parietal bones. In neonate forelimbs, the synovial fold contains cells with a chondrocyte-like appearance. Mutant mice display also partial joint fusions between the navicular and intermediate cuneiform tarsal elements in the foot, and between wrist carpal elements
Dies at second instar larval stage (PubMed:30645584). Shows reduced larval body size and shortened dorsal trunk probably due to defective membrane growth in larval tracheae (PubMed:30645584). Results in defective tracheal tube maturation including liquid clearance and gas filling resulting in twisted and uninflated tracheal tubes (PubMed:30645584). Results in mislocalization of crb from the subapical region to Vsp35/retromer-positive vesicles in the cytoplasm (PubMed:30645584). RNAi-mediated knockdown in the trachea results in a similar phenotype (PubMed:30645584)
Mice are born at the expected Mendelian rate, are viable and fertile (PubMed:9345264). They do not decrease their food intake in response to gastrin-releasing peptide (PubMed:12176666). Mice consume more food per meal, but the overall food intake per day remains unchanged (PubMed:12176666). Still, they display increased body weight relative to wild-type (PubMed:12176666). Contrary to wild-type mice, their body temperature remains nearly constant when exposed to cold (4 degrees Celsius) after intracerebroventricular injection of gastrin-releasing peptide (PubMed:9345264). Mutant mice show increased locomotor activity and increased social interactions (PubMed:9345264). They do not show any change in the perception of painful stimuli, but show reduced scratching in response to pruritogenic treatments (PubMed:17653196). Contrary to wild-type, mutant mice do not display imitative scratching after observing spontaneous scratching behavior in another mouse (PubMed:28280205). In one study, mutant mice display normal performance in a water maze, but show decreased inhibition of principal neurons by the interneurons, enhanced long-term potentiation (LTP), and greater and more persistent long-term fear memory (PubMed:12526815). Another study showed that mutants display reduced long-term fear memory (PubMed:34610277). Reduced basal sigh rate (PubMed:26855425). Conditional knockout in the auditory cortex results in diminished auditory fear memories with no significant effect on auditory discrimination (PubMed:34610277)
RNAi-mediated knockdown results in a reduced body length (PubMed:18635357). This phenotype in suppressed in a ced-4 n1162 mutant background (PubMed:18635357)
Embryonic lethal due to peri-implantation defects. Mutant embryos arrest soon after implantation and fail to form organized embryonic or extraembryonic structures. Conditional mutants, with expression abrogated in the inner cell mass of embryos from early implantation stages onward, display gastrulation defects
Mice are viable and show no abnormality of cortical lamination. However, a delay in dendritic spine maturation coupled to an increase in spine neck and spine density is observed
Morpholino knockdown results in defects in eye development, reduced expression of early eye marker genes rax, tbx3, six3 and pax6 and reduction of cell density at the neurula stage. Co-knockdown of nemp1b and ran elicits reduction of cell density and eye defects more significantly than the individual knockdown of either one
No visible phenotype, double yjbM-ywaC and triple relA-yjbM-ywaC mutants are also viable (PubMed:18067544)
Salt/osmotic sensitivity associated with root tip growth arrest and swelling and the induction of lateral roots
Deletion of the gene increases the expression of lfrA and produces higher resistance to multiple drugs
Growth defects with elevated alanyl-tRNA synthetase (AlaRS) or stress-inducible lysyl-tRNA synthetase (LysU) levels in the presence of excess Ser, and with elevated LysU or constitutive lysyl-tRNA synthetase (LysS) levels in the presence of excess Thr. Excess homoserine with elevated LysS, LysU or seryl-tRNA synthetase (SerRS) levels also leads to growth defect. Growth defects with LysU overexpression are much more pronounced than with LysS overexpression. Reduced sensitivity to aminoglycoside antibiotics neomycin, streptomycin and kanamycin
Homozygous VPS35L knockout is embryonic lethal at an early stage of embryo development, between 7.5 and 10.5 dpc
No visible phenotype, except that about 13% of the pups do not thrive. Mice are born at the expected Mendelian rate (PubMed:18676989). Mutant mice display no obvious defects in synaptic responses to single stimuli at the calyx of Held. Repetitive stimulation gives rise to decreased synaptic responses, due to perturbation of the replenishment of release-ready synaptic vesicles (PubMed:23633571)
Deletion of the gene affects pilus synthesis. Mutant is unable to translocate CagA and is unable to induce IL-8 secretion by gastric epithelial cells (PubMed:26565397). Deletion has no effect on assembly of the Cag outer membrane complex, but the mutant machine completely lacks the entire cytoplasmic complex (PubMed:31088930)
Mice lacking Plcd1 and Plcd3 die between 11.5 and 13.5 dpc. They exhibit severe disruption of the normal labyrinth architecture in the placenta and decreased placental vascularization, as well as abnormal proliferation and apoptosis of trophoblasts in the labyrinth area. Furthermore, Plcd1 and Plcd3 double knockout embryos supplied with a normal placenta by the tetraploid aggregation method survive beyond 14.5 dpc, indicating that the embryonic lethality is caused by a defect in trophoblasts
Abnormal localization of the peripheral membrane protein PIB2 to the vacuolar membrane (PubMed:29698392, PubMed:26510498). Decreases activation of TORC1 in response to glutamine (PubMed:28483912)
Disruption of the mppB is lethal
Strongly reduces the production of yellow pigmentation
RNAi-mediated knockdown decreases survival upon infection with P.aeruginosa
No apparent defect in nose touch avoidance but mutants show strong defects in the avoidance of NaCl concentrations above 100 mM. Responses to other soluble repellents as well as to hyperosmolarity are indistinguishable from wild-type animals
Deletion abolishes bacteriorhodopsin- and halorhodopsin-dependent phototaxis
Normal wax ester loads on leaves
Increased turgor in pollen tubes associated with altered and delayed pollen tubes growth (PubMed:25591940). Short siliques resulting from severe sterility (PubMed:25591940). Insensitivity to abscisic acid (ABA)-induced stomatal closure in guard cells (PubMed:25591940). These phenotypes are partially restored by the disruption of GAUT13 (PubMed:25591940)
RNAi-mediated knockdown targeted to the gonadal distal tip cells (DTC) causes DTC migration defects (PubMed:24811939). Significant reduction in expression of src-1 and tln-1 in DTCs (PubMed:24811939). Causes slow growth after hatching (PubMed:27510972)
Heterogeneous population of chloroplasts in mesophyll cells and petals, with normal and larger plastids, due to reduced chloroplast divisions and asymmetrically constricted chloroplasts (PubMed:18204083, PubMed:23936263). Contains highly elongated and multiple-arrayed chloroplasts in developing green tissues (PubMed:18204083). Formation of some FtsZ rings that fail to initiate or progress the membrane constriction of developing chloroplasts (PubMed:18204083). Normal shape and number of etioplasts in cotyledons (PubMed:23936263)
Abolishes global ISGylation
Splenomegaly and development of severe liver disease characterized by extravasation of erythrocytes, sinusoidal damage, loss of liver sinusoidal endothelial cells (LSECs) and fibrosis (PubMed:31661432). Normal life span but there is a significantly higher occurrence of liver tumors in old animals of more than 1.5 years of age (PubMed:31661432). Significantly reduced levels of Glmp (PubMed:31661432, PubMed:32959924). Conditional knockout in LSECs results in a tuberous liver appearance (PubMed:31661432)
Mice die between embryonic days 11.5 and 14.5, showing internal hemorrhage, liver hypoplasia and anemia
Loss of nitrate reductase activity in aerobic and hypoxic conditions
Inactivation of the gene leads to a total absence of m(2)G in tRNA but does not affect cell growth or the formation of other modified nucleosides in tRNA(Phe)
Leads to a reduced accumulation of pyranonigrin E
Results in a hypersensitivity to miconazole
Impairs the production of abscisic acid (ABA) and leads to the accumulation of 1'-deoxy-ABA
No visible phenotype. Cells lacking this gene show no growth defect; a double rocG-gudB disruption has the same phenotype as a single rocG disruption
According to some authors, mutants die within hours after birth and are unable to feed after birth (PubMed:15386003). According to another report, mutants are embryonically lethal at organogenesis stage, and display cardiovascular and neuronal defects (PubMed:15386003). PIP5K1C and PIP5K1B double mutant mice die within minutes after birth. PIP5K1C and PIP5K1A double mutant mice are embryonic lethal. Bone marrow-derived macrophages are defective in phagocytosis, attachment to IgG-opsonized particles and Fc-gamma-R clustering, and display highly polymerized actin cytoskeleton. Neurons display defects in synaptic transmission due to defects in synaptic vesicle trafficking at different levels. T-cells mutant for isoform 1 display increase adhesion and polarization
Enhanced resistances to the virulent bacterial pathogen P.syringae pv. tomato accompanied by an increase in PR1 expression
Essential gene; conditional lethal mutations decrease the production of ergosterol and accumulate 4,4-dimethylzymosterol
Plants produce collapsed, nonviable pollen grains (PubMed:16557401, PubMed:23373795). Male sterility (PubMed:17341835)
No visible phenotype under normal growth conditions, but plants show slight decrease in chlorophyll content. Chli1 and chli2 double mutants are albino
Causes defects in hyphal development under hypha-inducing conditions and attenuates virulence in a mouse model of systemic infection
Zygotic lethal (PubMed:18765566). RNAi-mediated knockdown results in a reduced meiotic maturation rate of oocytes (PubMed:18472420). Embryos are multinucleated and osmotically sensitive with permeable and therefore defective eggshells (PubMed:18765566, PubMed:18385514). During the first cell cycle, 52% of embryos fail to extrude polar bodies, 83% of embryos display no or minimal pseudocleavage and the centrosomal-nuclear complex does not migrate to the center of embryos (PubMed:18385514). Animals display mitotic spindle alignment defects whereby in 73.9% of embryos, the P0 spindle does not rotate to the anterior-posterior axis of the embryo during anaphase, but during the metaphase to anaphase transition, the movements of the spindle are more abrupt with the spindle migrating to the posterior pole and then rebounding to the anterior-posterior axis (PubMed:18385514). In 17.4% of embryos the centrosomes are unstable and the spindle is displaced further towards the posterior pole (PubMed:18385514). Impaired localization of proteins important for establishing cell polarity such as par-2, par-3, gpr-1 and gpr-2 (PubMed:18385514). Altered microtubule organization and dynamics during metaphase including a greater distance between the growing microtubule plus ends and the posterior cortex, impeded microtubule growth with fewer growing astral microtubules reaching the cortex, and a reduced microtubule nucleation rate (PubMed:18385514). Slight defect in endoplasmic reticulum morphology whereby the large endoplasmic reticulum aggregates that normally form during metaphase and persist during anaphase, form, but do not persist during anaphase and disperse (PubMed:18385514). Mild endocytosis defect with an accumulation of the yolk protein vitellogenin in the pseudocoelom (PubMed:18354496). Impaired cortical granule (secretory vesicle) localization with granules abnormally clustered around the nuclear envelope of proximal oocytes, irregulary dispersed in the cytoplasm of oocytes and retained in the embryo following entry into the uterus (PubMed:18765566). Cortical granule exocytosis defects whereby cav-1-positive cortical granules are not tethered to the plasma membrane, but are distributed throughout the cytoplasm and accumulate around the nucleus in embryos following fertilization (PubMed:22992455). Disrupted fusion of spores, containing intracellular pathogen N.parisii, with the apical cell membrane and thus disrupted clearance from intestinal cells (PubMed:24843160). RNAi-mediated knockdown in RNAi-sensitive mutants exposed to bacterial pore-forming toxin Cry5B results in intoxification and impaired plasma membrane repair (PubMed:21320697). RNAi-mediated knockdown in the intestine results in reduced survival upon exposure to Cry5B (PubMed:21320697)
Irregular root expansion. Defects in karyokinesis and cytokinesis. Cytokinesis defects before the embryo dermatogen stage and in roots. Embryos with enlarged nuclei, often containing multiple nucleoli. Some abnormal stomata with pores attached to a single side of the mother cell. Long root hairs. In roots, multinucleated cells, cell wall stubs, and synchronized cell divisions in incompletely separated cells. Normal anaphase spindle, but distorted phragmoplast. Abnormal formation of nematode-mediated giant cells leading to impaired maturation of nematode larvae
No visible effect on bacterial persistence
Death at pupal stage
Mice develop normally and survive to adulthood without any apparent alteration. However, both males and females are infertile. This defect appears cytologically as complete loss of centromere cohesion at metaphase II, leading to single chromatids, and physiologically as formation of aneuploid gametes that gave rise to infertility
Not essential; its disruption results in increased transformation by plasmid DNA carrying multiple BsuMI target sequences (PubMed:11751814). Triple deletion ydiO-ydiP-ydjA leads to loss of susceptibility to MspJI, which only digests C-methylated DNA (PubMed:32324221)
Abolished the drimane sesquiterpenes biosynthesis
Deletion mutants fail to secrete EsxA and EsxB, and are as attenuated as ESX-1 mutants in virulence assays (PubMed:16030141). Bacteria no longer translocate from the phagolysosome to the cytosol of host (human) cells; bacteria replicate in phagolysosome (PubMed:17604718). Host (human) cells no longer produce cytokine IP-10 (CXCL10) upon infection, but continue to produce IL-1 beta (IL1B) (PubMed:26048138)
Defects in the structure and function of body wall muscle, resulting in variable paralysis (PubMed:7929573). Disorganization of the A- and I-bands of the myofilament lattice and accumulation of thin filaments in body wall muscles in adult animals (PubMed:7929572). More densely aligned myosin filaments indicating higher contractility of the actomyosin network (PubMed:25717181). Excessive contraction of the myoepithelial sheath (PubMed:25717181)
Premature loss of centromere cohesion and high non-disjunction of both homologous and sister chromatids at meiosis I and II
Cells lacking this gene retains about 40% of the capacity to hydrolyze linear arabinan compared to the wild-type
Decreases strongly levels of growth on solid medium and biomass accumulation during liquid cultivation for both L-arabinose and L-arabitol; and impairs L-xylulose reductase activity
Mice exhibit increased bone mass due in part to impaired osteoclast formation. Bones show reduced osteoclast numbers (PubMed:23395171). Increased osteogenesis and impaired adipogenesis observed in bone marrow-derived stromal cells (PubMed:25979161)
Leads to a reduced growth rate on non-fermentable carbon sources, which is more pronounced at high temperature (PubMed:8690083, PubMed:18727146). Shows defects in the membrane insertion of nascent chains resulting in the accumulation of the precursor form of subunit 2 of cytochrome oxidase (PubMed:20427570, PubMed:25609543)
Suppresses a pbp2b (penA) deletion, grows slowly and is smaller than wild-type; about 50% of the volume of wild-type cells. Increased accumulation of FtsA and FtsZ protein. Significant up-regulation of genes of the WalRK regulon. Also partially suppresses deletions in other genes involved in peripheral PG synthesis; gpsB, mreCD, rodA and rodZ but not mltG. Slight decrease in net phosphorylation (by StpK/PhpP) of DivIA and MapZ/StpK. Double khpA-khpB deletions have the same phenotypes
No growth defects (PubMed:21934146). Two-fold lower callose accumulation in plasmodesmata than wild type (PubMed:21934146). More susceptible to infection by the plant pathogen Pseudomonas syringae pv. maculicola (PubMed:21934146). Level of salicylic acid (SA) is comparable to wild type but plasmodesmata closure is impaired (PubMed:21934146, PubMed:23749844). However, overexpression leads to growth inhibition and chlorosis in seedling stage, with levels of SA fifteen-fold higher than wild type including all forms of SA, and probably triggering cell death (PubMed:23749844). Ectopic expression affects trafficking of MP from TMV, and shows four-fold accumulation of callose in plasmodesmata than wild type (PubMed:21934146). Compromised systemic acquired resistance (SAR) (PubMed:27078071)
No visible phenotype during vegetative growth, but shorter siliques containing a reduced number of viable seeds. Elevated total fatty-acid levels in leaves and seeds of plants grown at 15 and 22 degrees Celsius
Embryo defective. Developmental arrest of the embryo at transition from the globular to heart stage
Single deletion has decreased permeability to the antibiotic cephaloridine (9-fold), glucose (4-fold), serine, phosphate and iron Fe(3+). Growth rates are wild-type, due to the other Msp-type porins. A double mspA-mspC deletion takes up less cephaloridine, glucose, serine and phosphate than the single mspA deletion and grows slower than wt or single mspA deletion. A triple mspA-mspC-mspD deletion grows even slower and has reduced Fe(3+) transport compared to wild-type
Maternal-effect embryonic lethality due to defects in spindle positioning and cytokinesis in the early embryo (PubMed:12618396, PubMed:14697358). Microtubules are fragmented and disordered (PubMed:14697358). Abolishes phosphorylation of RNA-binding protein oma-1 in embryos (PubMed:16289132). RNAi-mediated knockdown causes an increase in taf-4 nuclear localization in the one-cell embryo (PubMed:18854162). RNAi-mediated knockdown causes a loss in plk-1 asymmetric localization in 2-cell stage embryo without affecting mex-5 polarization (PubMed:18199581). RNAi-mediated knockdown disrupts P granule distribution in zygotes after meiosis whereby zygotic P granules fail to disassemble in the anterior cytoplasm during zygote polarization, however new P granules assemble and accumulate in the posterior cytoplasm as in wild-type (PubMed:25535836)
RNAi-mediated knockdown suppresses the longevity caused by an eat-2 mutant background
Misspecification of tissue boundaries between the xylem and procambium
Deletion of the gene leads to a strong perturbation in the expression of three pigmented antibiotic clusters. It also affects the secondary metabolite cluster responsible for synthesis of the siderophore desferrioxamine and expression of the genes encoding enzymes for primary metabolism pathways, which supply antibiotic precursors and genes for morphological differentiation
Unable to grow on glycerol. Can be complemented in trans by glpA2 under the control from a strong promoter
Mice develop normally, exhibit no overt phenotype, but are infertile (both males and females). Gonads are characterized by the absence of post-meiotic cells
Decreased micropylar guidance and fertilization efficiency
Lack of exine in pollen grain walls
No visible phenotype. When associated with SUN1 disruption, abnormal nuclear shape in some cells such as mature root hairs but also numerous meiotic defects namely a delay in the progression of meiosis, absence of full synapsis and a reduction in the mean cell chiasma frequency
Morpholino knockdown of loxl2a and loxl2b in the embryo results in increased expression of Sox2 in the central nervous system, particularly in the eye, hindbrain and spinal cord. It also leads to impaired neural differentiation with morphological defects in the brain where the anterior brain is rounder than normal and the eyes present a flatter curvature. Embryo development is also compromised
Disruption mutant has increased levels of cyclic di-GMP. Mutation leads to reduction in both swarming and twitching motility, to an increase in pyoverdine production, and a reduction in virulence. It produces a biofilm with little heterogeneity
Decreases the production of itaconic acid (PubMed:26639528)
Increased cell proliferation, defective apoptosis, and induction of tissue overgrowth
No aerobic growth on ethanolamine (EA) supplemented with cobalamin (vitamin B12) (PubMed:10464203, PubMed:2656649). No phenotype during growth in vitro. Decreased expression of eutR during bacterial growth in vitro. About 10-fold outcompeted by wild-type in mouse intestine at 2 and 4 days following oral infection, but no effect seen during growth in peritoneal exudate macrophages (PubMed:26565973). A non-polar deletion mutant does not grow on EA between pH 5.5 and pH 8.5, stops acetaldehyde release on EA plus vitamin B12 (PubMed:16585748). A deletion allows growth on acetate, suggesting BMC assembly or maintenance is impaired (PubMed:23585538)
Homozygous mice for AQP8 have normal appearance, survival, and growth (PubMed:15647389). Homozygous mice female for AQP8 exhibit increased fertility and numbers of oocytes in ovulation (PubMed:21117174). Homozygous male mice show an unaffected fertility (PubMed:21117174). Homozygous pregnant mice have a significantly higher number of embryos and fetal/neonatal weight is also significantly greater (PubMed:21602842). Exhibit a greater amount of amniotic fluid and placental weight is significantly larger (PubMed:21602842)
Leads to partial auxotrophy for methionine
Morpholino knockdown of the protein results in neural tube closure defects and a disorganization of the neuroepithelium (PubMed:25009281). This developmental phenotype is associated with an alteration of cell-cell junctions (PubMed:25009281)
No heteroresistance to fosfomycin
Inactivation of cmaA2 causes accumulation of unsaturated derivatives of both the methoxy- and ketomycolates. The mycolic acids of the cmaA2 mutant lack trans-cyclopropane rings but are otherwise intact with respect to cyclopropane and methyl branch content. Deletion of cmaA2 has no effect on bacterial loads during mouse infection but causes hypervirulence due to an excessive immune activation which produces more-severe granulomatous pathology than wild-type, and increases both the macrophage activation and the macrophage inflammatory response
Cellular protein arginine phosphorylation is only detectable in a ywlE mutant and not in the wild-type strain, and global gene expression is significantly impacted in the mutant strain (PubMed:22517742, PubMed:24263382). Cells lacking this gene are impaired in dephosphorylating McsB-P (PubMed:23770242). They also show a reduced resistance to ethanol stress (PubMed:15995210)
Abnormal flowers with floral-like organs
Male mice are infertile and the sperm have significantly reduced motility, ATP levels, and enolase enzymatic activity as well as a structurally abnormal sperm fibrous sheath
The quadruple mutant jox1, jox2, jox3 and jox4 exhibit reduced root and shoot growth, delayed flowering, reduced seed production, constitutively elevated jasmonate and jasmonoyl-L-isoleucine levels, and enhanced resistance to the necrotrophic fungal pathogen Botrytis cinerea and the herbivorous caterpillar Mamestra brassicae
Cells form nonspreading colonies, cannot digest chitin and are resistant to bacteriophages. Whereas wild-type cells can bind latex spheres and propel them along their surface, cells of the gldH mutant fail to do it
Reduced shoot phototropism and gravitropism, and impaired embryo growth axis (e.g. between the late torpedo-shaped embryo stage and the walking stick-shaped embryo stage). Abnormal amyloplasts position and sedimentation in endodermal cells. Defect in the organization of endomembranes characterized by aggregated endomembrane structures accompanied by a missorting of storage proteins
Cells show an increase in lysostaphin resistance, without a concomitant decrease in beta-lactam resistance. The mutants also show minor defects in peptidoglycan and pentaglycine cross bridge structure
Deletion of the gene results in a significant change in the size of the S-layer SlaA and the flagellin FlaB glycoproteins. Mutant has a significantly lower growth rate at elevated salt concentrations
No visible phenotype under normal growth conditions. Uge2 and uge3 double mutant is almost completely sterile. Uge2 and uge4 double mutant displays a reduction in rosette and root growth, hypocotyl elongation, and secondary hypocotyl thickening
Disruption of both secD and SecF confers cold-sensitive growth (strain secD1(Cs))
Attenuated response to heat shock stress and reduced survival after heat shock and oxidative stress
Slight increase in basal sigma-E activity, retains acid stress induction of sigma-E
Deletion of this gene increases fosfomycin sensitivity
Hypersensitivity to cholesterol availability and decreased cholesterol uptake (PubMed:22479487). When grown in low cholesterol conditions, 72% reduction in offspring number compared to 25% reduction in wild-type worms, 60% reduction in oocyte number, altered oocyte distribution in 47% of mutants, and 5-fold increase in embryonic lethality (PubMed:22479487). In addition, in low cholesterol conditions, growth of mutants ceases by day 3, resulting in a 63% reduction in adult size at day 5, there is a 22% reduction in the number of L1 larvae that reach adulthood and a 4-5 hour delay in the L4-to-adult transition (PubMed:22479487). 78% reduction in dauer formation, increased sensitivity of adult hermaphrodites to heat exposure and reduced speed of movement independent of cholesterol availability (PubMed:22479487). Mutants show a twitching phenotype upon administration of unc-22 feeding RNAi, indicating a lack of involvement in the systemic RNAi response (PubMed:18201385). RNAi-mediated knockdown results in decreased cholesterol uptake and, when grown in low-cholesterol conditions, altered oocyte distribution in 42% of mutants, reduced oocyte numbers and reduced speed (PubMed:22479487)
Depletion causes significant defects in head formation with absence of eye structures
Mice reveal significant disruption of elastic fibers in multiple tissues. They develop pulmonary septation defects, rectal prolapse, colorectal adenomas, and dilated cardiomyopathy. They survive up to six months (mid-adult age) without major clinical symptoms
Leads to reduced expression of genes for the polyketide synthase PKS2, the cytochrome P450 monooxygenase P450, the alcohol dehydrogenase/quinone reductase YogA, the lipid transport exporter superfamily member RTA1 and the a major facilitator superfamily transporter MFS, as well as a marked reduction in phomenoic acid production
Deletion of the cntABCDF genes decreases nickel and cobalt intracellular levels and decreases virulence
Leads to the loss of pyrichalasin H production, but accumulates novel cytochalasans
Mice are viable and morphologically normal, but smaller than wild-type and heterozygous littermates. Homozygous NRIP1-null mature female are defective in ovulation and completely infertile (PubMed:11100122). Embryos with heterozygous NRIP1 loss show anomalies of the urinary tract including dysplastic kidneys with cystic dilations, severe hydoureter with hydronephrosis and ureterocele (PubMed:28381549)
No visible phenotype under normal growth conditions, but mutant plants exhibit increased sensitivity to salt and drought stresses (PubMed:20576316). Decreased sensitivity to abscisic acid (ABA) (PubMed:20576316, PubMed:21546455)
Morpholino knockdown of both tet3-a and tet3-b causes defects in embryonic development, including malformations of the eye (eyeless), small head, and missing pigmentation along the lateral body, leading to embryonic death between stages 35 and 40
MMP3-deficient mice have impaired antiviral cytokine and chemokine responses at early stage of viral infections (PubMed:35940311). In addition, neuronal degeneration, microglial activation, and superoxide generation are largely attenuated in these mutant mice (PubMed:17116747)
Individual deletion of mazF3, mazF6 and mazF9 have little to no phenotype, but a triple mutant shows increased sensitivity to oxidative and antibiotic stress and starvation, decreased formation of persisters cells, and a decreased bacterial load and pathogenic damage in infected guinea pigs
Conditional knockout in the thick ascending limb (TAL) of Henle's loop in kidney leads to hypocalcemia, hypermagnesemia, hyperphosphatemia and nephrocalcinosis
Cells lacking this gene show a consistent change in 2-hydroxyglutarate level
In the triple mutants arl8a-1 arl8b-1 arl8c-1, impaired multiplication of tomato mosaic virus (ToMV)
Invasive growth defect with elongated cell morphology
Embryo defective. Developmental arrest of the embryo between the globular and heart stages (PubMed:9707529). Plants with partial loss of EDD1 display changes in patterning of margin and distal regions of leaves (PubMed:22791832)
Leads to an increased in autophagy flux (PubMed:26098573). Causes an accumulation of ATG3, ATG7, ATG8, ATG19, ATG20, ATG22 and SNX4/ATG24 transcripts in nutrient-replete conditions (PubMed:26098573)
Abolishes the production of fusarielins F, G and H
Decreases phosphatidylcholine and phosphatidylethanolamine flippase activity in secretory vesicles; simultaneous knockout of DRS2 exacerbates the effect
Null cells exhibit excessive aggregation of myosin II filaments in the cleavage furrows and in the posteriors of the daughter cells once cleavage is complete. The cleavage process is slowed down for cells where the gene is disrupted. Myosin II overassembly increases incrementally in the mutants, with the mhkA, mhkB, mhkC triple mutant showing severe myosin II overassembly and myosin II phosphorylation is highly reduced. Overexpression results in multinucleation of cells
Leads to the accumulation of endogenous phosphorylated sphingoid bases, and exhibits unregulated proliferation upon approach to stationary phase (PubMed:10329480). Causes a reduction in total C15 and C17 phosphatidylcholine levels (PubMed:25345524)
Impairs the production of neosartorin but accumulates no metabolites related to the neosartorin pathway
Delayed greening and virescent seedlings
Animals are viable and healthy with no apparent abnormalities but fail to undergo sexual maturation. Mutant female do not progress through the estrous cycle, have thread-like uteri and small ovaries, and do not produce mature Graffian follicles. Mutant males have small testes, and spermatogenesis arrested mainly at the early haploid spermatid stage. Both sexes have low circulating gonadotropin (LH and FSH) and sex steroid (beta-estradiol or testosterone) hormone levels. Migration of GnRH neurons into the hypothalamus appears normal with appropriate axonal connections to the median eminence and total GnRH content. The hypothalamic-pituitary axis is functional, as shown by robust LH secretion after peripheral administration of kisspeptin
Enhanced branching phenotype (PubMed:22398443). Defective in strigolactone exudation from roots, and reduced symbiotic interactions with arbuscular mycorrhizal fungi (AMF) (PubMed:22398443)
Cells lacking this gene are blocked in YukE secretion (PubMed:23861817, PubMed:24798022). They display an increased bacteriophage SPP1 resistance phenotype (PubMed:15576783). Loss of delivery of LXG toxins to target cells (PubMed:34280190)
Impaired chloroplastic NAD(P)H dehydrogenase (NDH) activity, probably due to a reduced stability of the NDH complex
Lethal for homozygous knockout embryos (PubMed:11829492). Heterozygous knockout mice are viable, grow normally and do not present overt clinical phenotype (PubMed:11829492). However, they progressively develop lipid storage-associated phenotypes, with an elevation of ceramides levels and an accumulation of lipid-laden inclusions in liver, more specifically in Kupffer cells, and other tissues (PubMed:11829492). Associated with the accumulation of ceramides, a depression-like phenotype is observed for heterozygous knockout mice (PubMed:23770692)
Morpholino knockdown of the protein causes disruption of the neural tube closure (PubMed:17961536). Morphants show defects in ciliogenesis at early stages of embryonic development (PubMed:17961536, PubMed:27486780). More mature multiciliated cells display normal cilium length, but exhibit severe defects in ciliary beating, retaining only a twitching motility, but no organized beating. Outer dynein arms are absent in morphant axonemes (PubMed:27486780)
Feminization of XY offsprings
Mutants show decreased amounts of glmY
Reduces ferrireductase activity and decreases biomass production during iron starvation but not during iron and copper sufficiency and copper starvation (PubMed:21840411). Increases sensitivity to hydrogen peroxide (PubMed:21840411)
No effect on 5-oxoproline production
RNAi-mediated knockdown results in defective avoidance behavior in response to P.aeruginosa
Strong reduction in plant size and biomass. Severe deficiency in shoot Pi level, but normal root Pi content
No visible growth defect in vitro in strains G27 and SS1. 20- to 30-fold reduction in transformation efficiency with chromosome or plasmid DNA in both strains. Increased sensitivity to mitomycin C, UV light, antibiotics metronidazol, levofloxacin, oxidative stress inducers hydrogen peroxide, cumene hydroperoxide and methyl viologen, in both strains. Strain SS1 deletion survived about 100-fold less well in mouse macrophages, bacteria deleted for ruvC have a 50% infective dose approximately 100-fold higher than that of the wild-type while the infection was spontaneously cleared from gastric mucosa between 36 and 67 days post-infection
Mutant grows on naphthalene but is not chemotactic to this aromatic hydrocarbon. Mutant has a wild-type chemotactic response to succinate, benzoate, salicylate and 4-hydroxybenzoate
Mutant female mice have reduced fertility and produce small litters that most commonly result in dead pups. The pregnancy failure is likely due to a deficient implantation and parturition (PubMed:9403693, PubMed:9403692). In an inflammatory setting, mutant mice are protected against various pathological changes (PubMed:9403692, PubMed:9403693, PubMed:11984592, PubMed:16172261). In a bleomycin-induced model of pulmonary fibrosis, mutant mice show an attenuated lung inflammation characterized by impaired induction of eicosanoid synthesis and impaired inflammatory leukocyte migration to the lung (PubMed:11984592). Mutant mice are resistant to experimental autoimmune encephalomyelitis due to impaired T helper 1 type immune response (PubMed:16172261). They are also partially protected against cerebral ischaemia and reperfusion (PubMed:9403693). In a systemic anaphylaxis model, mutant mice show reduced allergen-induced bronchial hyperactivity (PubMed:9403692)
Cells lacking this gene show a white phenotype and produce 2-methyl-3-n-amyl-pyrrole (MAP)
Deletion of this gene allows growth of cells disrupted for clpP or clpX, deletions which are otherwise lethal
Significant decrease in respiration rate and a lower concentration of the monounsaturated fatty acid cis-vaccenic acid
Trichomes with reduced branch number (PubMed:9177205, PubMed:25262228, PubMed:26287478). Impairment of trichomes branch tip sharpening due to disrupted transverse cortical F-actin cap (PubMed:26287478)
Mice are viable and fertile but display defects in retinal vascularization. In retinas between P5 and P12, the centrifugal outgrowth of the nerve fiber layer (NFL) vasculature is moderately delayed in retinas. At P11, vertical sprouts and plexiform layer (OPL) capillaries appear in wild-type mice, whereas both are completely absent in mutant mice. In adult mutant mice, the plexiform layer (OPL) remains avascular, confirming that the defect is not transient. The thickness of the outer nuclear layer in retinas is consistently reduced in adult mutant but not neonatal mice, indicating that neural cells are secondarily affected by the vascular defects
In the lyk3-4 mutant, increased nodulation in plants infected by S.meliloti, mostly resulting in tubular infection threads, and, to a lower extent, in sac-like structures (PubMed:20971894, PubMed:12947035). The weak hcl-4 mutant is unable to form curled root hairs, a step preceding infection thread formation upon infection by S.meliloti and leading to nodulation. In the hcl-2 mutant, S.meliloti induces extensive root hair deformation and continuous curling, but is unable to induce the formation of tight root hair curls and the subsequent infection threads (PubMed:17586690). In the hcl-2 mutant, there is reduced S. meliloti Nod factor-mediated induction of cortical cell division foci. Impaired asymmetric microtubule network formation in curled root hairs, and failure of activated cortical cells to become polarised and to exhibit the microtubular cytoplasmic bridges characteristic of the pre-infection threads induced by rhizobia (PubMed:11290290). Increased infection threads in nodules due to a slower release of bacteria into the cytoplasm (PubMed:25351493). Normal susceptibility to the root oomycete A.euteiches and to the fungus C.trifolii (PubMed:23432463)
Mice show eye and preputial gland defects (PubMed:12642482). Most male mice are sterile, but they can reproduce by in vitro fertilization (PubMed:12642482). Mice display calvarial ossification characterized by an unclosed calvarial region with impaired growth of fontanelle and parietal bones during postnatal development (PubMed:29156428)
No visible phenotype (PubMed:17369301). Increased half-life of type I toxin-antitoxin system RNAs of BsrG/SR4 (PubMed:22229825)
More senstitive to protamine than wild-type cells, but not as sensitive as sapC, sapD or sapF deletions
Reduction in total esters production but accumulation of precursor alcohols and aldehydes in ripening apple fruits, leading to modified aroma and flavor
Defects in axonal morphology and synaptic connectivity of the ventral cord motor neurons
Reduced levels of arabinogalactan proteins
Abolishes the production of AF-toxins and their precuror 9,10-epoxy-8-hydroxy-9-methyl-decatrienoic acid; and impairs the pathogenicity
Leads to the accumulatio of aurasperone B and fonsecin B
Normal asexual blood stage development (PubMed:21790945). Production of gametocytes is normal; however, following activation, gametocytes fail to egress from the host cell and to form beating flagella, while axoneme assembly and DNA replication proceed normally (PubMed:21790945). In addition, redistribution of nuclear ACT1 into the cytoplasm fails (PubMed:21790945). Severe reduction in the number of ookinetes produced; however, there is no oocyst formation (PubMed:21790945). No defect in female gametocyte activation (PubMed:21790945)
Worms exhibit early larval lethality and anterior to posterior cell fate transformation in a Hox gene-dependent manner. Hermaphrodites show vulva defects, partial hermaphrodite-to-male sexual transformation and are sterile
In strain 168 grown in minimal medium and glutamate, 3.5-fold increase in c-di-AMP levels, while a double pgpH-gdpP mutant has 4.2-fold increased levels of in c-di-AMP; double mutants die on solid medium after 2 days (PubMed:26240071)
Loss of resistance to C.higginsianum
Male flies exhibit abnormal copulation. They fail to successfully withdraw their genitalia upon termination of copulation so end up 'stuck' to the female, tugging to separate. There is also a 'non-copulating' behavioral phenotype. There are no morphological defects in the male genitalia. Females can mate successfully but have reduced fertility. Complete loss of lig function results in lethality during early pupal stages
Loss of processing of its own pro-peptide and pro-chitin-binding protein CbpD (PubMed:9642203). Loss of processing of pro-aminopeptidase to mature aminopeptidase (PubMed:11533066)
Male gametes fail to attach at fertile female gametes
RNAi-mediated knockdown is lethal
Deletion mutant cannot grow on D-galactonate
Knockout mice are born at the expected Mendelian rate. Mutant mice have grossly distorted lenses due to defective orientation and migration of secondary lens fibers associated with impaired anterior and posterior sutures formation. Mice exhibit neuroanatomical abnormalities characterized by defective dendritic spine morphology and misoriented cortical and hippocampal neurons, causing profound deficits in learning and memory
No visible phenotype under normal growth conditions, but production of brassicasterol is abolished
Leads to auxotrophy for arginine and cysteine
Leads to defects in biofilm architecture and attenuated virulence
Decreased expression of CsgB, decreased curli expression at 28 degrees Celsius
Decreased expression of genes downstream of the TTHB186, TTHB147 and TTHB159 genes. Decreased expression of TTHB178, TTHA0771 and TTHA0176 genes
Lethal during the early stages of larval development. RNAi-mediated knockdown results in 95% embryonic lethality with 86.15% of embryos exhibiting gastrulation defects with decreased expression of genes involved in gastrulation, and an increased abundance of unspliced RNAs, decreased levels of phosphorylated ama-1 at the 3' end of genes and decreased histone H3 modifications, which mark transcription elongation, in embryos. Rare survivors of lethality have multiple developmental defects in the soma and germline including a protruding vulva, multiple vulvae and failure to transition from spermatogenesis to oogenesis (also called masculinization of the germline or Mog phenotype)
Shows defect in ring canal assembly and female sterility
Perinatal death due to an absence of multi-nucleated muscle fibers (PubMed:23868259). Mice are observed at normal Mendelian ratios at 15 dpc and 17.5 dpc, full-term embryos are alive but are paralyzed and kyphotic with flaccid limbs due to skeletal muscle deficiency (PubMed:23868259). They show a complete absence of differentiated muscle tissue in the trunk, limbs or head (PubMed:23868259). Myoblasts can activate muscle-specific gene expression and differentiate, but lack the ability to fuse (PubMed:23868259). Defects are caused by impaired lipid mixing of cell membranes (PubMed:30197239). Conditional deletion in adult satellite cells, a population of muscle stem cells, completely abolishes muscle regeneration after injury, resulting in severe muscle destruction (PubMed:25085416). Conditional deletion in adult satellite cells impairs skeletal muscle hypertrophy in response to exercise (PubMed:28186492)
Male sterility. Increased number of inflorescence branches, modified floral organ identities, flowers with varied numbers of inner floral organs and amorphous tissues without floral organ identity in whorls 3 and 4. Malformation of leaf blades until the fourth-leaf stage
Reduced fertility due to impaired growth of pollen tubes in the transmitting tract during fertilization
Cells activate alkaline phosphatase during sporulation; the same phenotype is seen in the sapB2 and sapB10 mutants
No visible phenotype, even in asd1 and asd2 double mutant
Completely abolishes the production of novofumigatonin, but accumulates asnovolin A
No visible phenotype under normal growth conditions. Mutant plants exhibit enhanced disease resistance after inoculation with virulent Pseudomonas syringae, elevated basal-level expression of the PR1 defense marker gene, enhanced reactive oxygen species (ROS) burst in response to perception of bacterial microbial patterns, and accelerated flagellin-induced activation of MAP kinases
Leads to the appearance of giant lipid droplets and an excessive accumulation of non-polar lipids and phospholipids upon growth on medium containing oleic acid as a sole carbon source
Mutant induces a stronger inflammatory reaction upon infection
Cells lacking this gene are polymyxin sensitive. Lipid A is no longer modified with L-Ara4N even though the level of the lipid-linked donor of the L-Ara4N moiety, alpha-L-Ara4N-phosphoundecaprenol, is not reduced. However, the alpha-L-Ara4N-phosphoundecaprenol is less concentrated on the periplasmic surface of the inner membrane when compared to wild-type
Mice display no obvious defects in development, hematopoiesis or T-cell function. Deletion of Csrnp1, Csrnp2 and Csrnp3 together causes partial neonatal lethality, suggesting that they have redundant functions
At 14.5 dpc, brain intermediate zone and cortical plate are significantly thicker in mutant mice compared to wild type. The number of neuronal cells is increased in the cortical plate and intermediate zone. Cell cycle exit is decreased by 13% in the ventricular and subventricular zones. In 17.5 dpc brains, the ventricular zone was thinner in mutant mice compared to wild type animals, consistent with the increased number of neurons in the cortical plate. TUBB3 is consistently more diffuse and less structured in mutant telencephalon than in wild type
Flies exhibit abnormal cysts, they contain an excess number of cells that cannot differentiate into gametes
Viable and fertile, although females have reduced fertility (PubMed:17043311, PubMed:18728284). At two months of age, animals show abnormal blood cell production accompanied by mild anemia, leukopenia and thrombocytopenia. Hematologic abnormalities become progressively more severe with age (PubMed:18728284). Monocytosis is observed at 5 months onwards, along with splenomegaly and hepatomegaly (PubMed:18728284). Approximately 12% of animals develop acute myeloid leukemia (AML) and/or myeloid sarcoma (PubMed:18728284). Mortality increases rapidly from age 6 months onwards, with no survival past 22 months (PubMed:18728284). Expansion of hematopoietic stem cell and common myeloid progenitor cell populations, and their downstream lineage, is observed in bone marrow and spleen; the effect is most significant in spleen (PubMed:18728284). Bone marrow cells show altered patterns of histone methylation and significantly increased levels of both H3K4me3 and H3K9me3 (PubMed:18728284). Expression of HOXB3, HOXB5, HOXB6, HOXB8 and PITX2 in bone marrow cells is reduced (PubMed:18728284). No effect on histone methylation at the PWS/AS imprinting center (PubMed:17043311). Double knockouts with ARID4B heterozygotes show a more severe hematologic phenotype with 83% of animals progressing to AML, and with earlier age of onset (PubMed:18728284). In bone marrow cells, expression of FOXP3 is significantly reduced (PubMed:18728284). Males show progressive reduction in fertility from 2 months of age onwards, with reduced testis size and variable defects in seminal vesicle formation (PubMed:23487765). Spermatogenesis is partially blocked from the meiois II stage onwards leading to reduced numbers of mature spermatozoa (PubMed:23487765). Expression in testis of CLDN3, an androgen receptor-regulated gene, is significantly reduced (PubMed:23487765). Expression of PTGDS is also reduced, whereas expression of INHA and EMB is moderately increased (PubMed:23487765). Maternal-specific trimethylation of H4K20 and H3K9 at the PWS/AS imprinting center is significantly reduced (PubMed:17043311)
Impairs the production of harzianum A and leads to the production of a larger quantity of the aspinolides B and C
Mice display impaired beta cell glucose transport and insulin secretion causing type 2 diabete. This is due to defects in SLC2A2/Glut-2 glycosylation, provoking SLC2A2/Glut-2 endocytosis with redistribution into endosomes and lysosomes
Sterility
Reduced plant growth under short day photopheriod conditions and starch granules with alterated morphology
Disruption leads to increased resistance to pH 2.5, transcription of a number of genes is induced (PubMed:23716572). Grows as well as wild-type in culture and in macrophages (PubMed:23716572). Double pdeA-pgpH mutants have slightly defective growth in culture and in macrophages (PubMed:25583510). Single mutant secretes as much c-di-AMP as wild-type (PubMed:23716572, PubMed:25583510). Double pdeA-pgpH mutant secretes about 4-fold more (PubMed:25583510). Single mutant induces 3.5-fold more interferon-beta (IFN-beta) transcription by macrophages (PubMed:23716572, PubMed:25583510). Double pdeA-pgpH mutants induces about 10-fold more IFN-beta (PubMed:25583510). Double mutant is 10(3)-fold less virulent in mice, suggesting increased bacterial c-di-AMP is detrimental to growth within the host (PubMed:25583510). Single mutant has approximately 2-fold increased intracellular levels of c-di-AMP (PubMed:25965978)
Does not affect the growth of aerial hyphae, conidiation or conidial germination
Plants have various developmental defects, such as short and branched root hairs, short roots, small rosettes, short stature, as well as defective male gametes and pollen tube germination (PubMed:16100337, PubMed:8022944, Ref.7, PubMed:35644016). In low light conditions, short etiolated hypocotyls (PubMed:35644016). Lower S-acylation of CESA3 (PubMed:35644016). The double mutant tip1-5 ixr1-2 exhibits a reduced plant growth with stronger developmental defects phenotypes than each single mutant, and associated with thin cell walls and reduced cellulose content in iterfascicular fiber cells (PubMed:35644016)
RNAi-mediated knockdown at the L1 larval stage results in the disorganization of myosin thick filaments in adult body wall muscles characterized by the formation of abnormal myosin heavy chain myo-3 aggregates and V-shaped crossing of A-bands. In addition, body wall muscle cells appear shorter and broader
Viable and fertile but displays phenotypes that appear to be the result of increased juvenile hormone (JH) and insulin/insulin-like growth factor (IIS) signaling (PubMed:30917324). For example, under nutritional stress shows reduced male survival, sensitivity toward oxidative stress, decreased locomotor activity, altered cuticular hydrocarbon (CHC) composition and desiccation protection, increased nuclear foxo levels and larvae are unable to adjust their developmental timing to their nutritional condition (PubMed:30917324). Six day old adults also display a significant reduction in triacylglycerol (TAG) storage levels (PubMed:30917324). In contrast, TAG levels in embryos and third-instar larvae are unaffected (PubMed:30917324)
Abolishes the production of all the drimane sesquiterpene
No visible phenotype when grown under normal conditions, due to the redundancy with CSN6A. Csn6a and csn6b double mutants are lethal at the seedling stage
Mutant lacks PCCase activity. Mutation has no effect on erythromycin production
Mice exhibit a significant 20% increase in total CoA levels in kidney
Mice display growth retardation and incomplete development of small intestine, lung, and bone. Postnatal lethality is detected in one third of the homozygous mutants
Inactivation results in altered motility. Mutants are able to survive in tick guts, but they are unable to establish an infection in mice
Mice develop normally but develop spontaneous autoimmune symptoms caused by T-cell activation in aged mice (PubMed:30580966). Mice also display slight metabolic defects: mice are heavier than wild type mates, have abnormal plasma lipid profiles, fasting hyperglycemia with enhanced gluconeogenesis and exhibit differences in white and brown adipose tissue morphology (PubMed:23483972)
Mutants are unable to use phenylacetate as a carbon source
Worms exhibit defects in locomotion and postembryonic development. All mutants are resistant to the acetylcholinesterase inhibitor aldicarb indicating impaired cholinergic transmission
Cells lacking this gene are not auxotrophic for riboflavin and grow at wild-type rates in both rich and minimal media. But simultaneous disruption of ribH1 and ribH2 is lethal. The ribH2 mutant shows a decrease in survival and replication in macrophages at all time-points and is attenuated in mice
Mice show developmental defects at stages during and after gastrulation, including disorganization of the ectoderm, impaired migration of the mesoderm and loss of somites and other structures derived from both the ectoderm and mesoderm. Cell-cell adherens juntions and tight junctions are improperly organized in the ectoderm-derived cells. No redundancy exists in the function of afadin during gastrulation
Defective cytoskeleton organization characterized by disrupted F-actin and microtubule dynamics leading to abnormal excretory cell tubulogenesis. Specifically, F-actin structure and organization in excretory cell canals throughout life is disrupted and microtubule organizing centers accumulate at the tips of excretory cell canals, with a strong reduction along the canals, and the direction of microtubule growth is altered
No visible phenotype under normal growth conditions. The double mutants idnl1-1 and idnl2-1 show a late-flowering phenotype and reduced level of DNA methylation (PubMed:22592791). The double mutants fdm1-1 and fdm2-1 show reduced level of DNA methylation and repeat-associated small interfering RNAs (ra-siRNAs) (PubMed:22302148)
Cells lacking this gene result in colonies with a more erose appearance compared with the usual glossy appearance. The mutant yields arabinogalactan (AG) with a significant reduction in arabinofuranosyl (Araf) content concomitant with a relative increase in the amount of galactanfuranosyl (Galf). It shows only a slightly reduced growth rate
The mazE-mazF operon is not essential. A triple TA mutant (missing vapB-vapC, mazE-mazF and phd-doc TA systems) survives antibiotic challenge, suggesting the TA systems are not required to generate drug-resistant cells. However the mutant is more sensitive to oxidative and heat stress, and does not survive long term starvation during aerobic growth on complex medium. There is a difference in the level of branched-chain amino acids, which may play a role in monitoring the nutritional supply and physiological state of the cell
Early postnatal lethality. Ovarian folliculogenesis and oocyte growth appear normal but fully grown oocytes show defects in resuming meiosis
Disruption of a single RPS19 gene reduces cell growth; a double disruption is lethal. Depletion experiments show the proteins are required for correct maturation of precursor rRNA to generate the 18S small rRNA. A specific site between the 18S and 5.8S precursors (site A2 in ETS1) is not cleaved in disruption mutants. Partially assembled ribosomes are retained in the nucleolus rather than being exported to the cytoplasm. All effects are exacerbated in the double disruption. Increases association of NOC4 with 20/21S pre-rRNA, decreases association of ENP1, TSR1 and RIO2 with 20/21S pre-rRNA
Death at embryonic day 12.5 (PubMed:20018847, PubMed:21304510). Embryonic lethality is caused by severe anemia associated with defective differentiation of both megakaryocytes and erythrocytes from common myeloid progenitors (PubMed:21304510)
Cells lacking this gene show a reduced growth rate, especially at high temperatures. They show a reduced amount of 70S ribosomes engaged in translation and a corresponding increase in the amount of free ribosomal subunits
RNAi-mediated knockdown causes a reduction in lifespan. Induces ER stress characterized by the expression of hsp-4, the accumulation of ubiquitinated proteins and an increase in ubql-1 expression
Increased seed abortion
Deletion mutant exhibits a growth defect in iron-depleted media. Mutant is able to produce and secrete petrobactin, but petrobactin accumulates in the culture supernatants. Mutant is also significantly attenuated in a murine model of inhalational anthrax
Shows slowed larval development with lack of imaginal disks and microcephaly with deformed and underdeveloped optical lobes (PubMed:29361561, PubMed:33211700). Death occurs at the third larval instar stage (PubMed:29361561, PubMed:33211700). Reduced levels of Xpd in embryos (PubMed:29361561). Results in higher proportion of neuroblasts in mitosis with shorter spindle and less dense astral microtubules with defective assembly and orientation (PubMed:33211700). Loss of maternal Mms19 causes cell cycle defects in young embryos (PubMed:29361561)
RNAi-mediated knockdown results in a low frequency of embryonic lethality, with embryos arresting paralyzed at the two-fold stage; increases in frequency significantly on an hnd-1 or unc-120 mutant background (PubMed:15892873). Many embryos that survive to hatch become uncoordinated, dumpy larvae (PubMed:15892873). Double RNAi-mediated knockdown with sem-2 results in no sex myoblast production (PubMed:21307099)
Has reduced whole-cell and lipid droplet (LD) TAG levels. Cells lacking both TAG synthase genes (plh1 and dga1) have no LDs and exhibit defects in spore germination and in spore wall integrity
RNAi-mediated knockdown in the dorsal hippocampus impairs the early phase of long-term potentiation and the formation of short term memory
Reduction by 50 percent in state transitions due to a disturbed balancing of excitation energy between the two photosystems. Short flowering delay
Null cells have increased levels of active rap1, increased substrate adhesion, abnormal F-actin distribution, show defects in cell-cell and substrate adhesion during aggregation and vegetative growth
Mutant plant flowering lacks a photoperiodic response
Disruption of the gene results in the modulation of the expression of about 180 proteins and in a complete loss in the ability of the spirochetes to infect mice by needle inoculation
Mice are viable and display no differences in size and body weight (PubMed:24751727, PubMed:26603179). Scaly skin and increased pigmentation on ears and hyperkeratotic calluses on the soles and toe pads within 6 weeks of birth (PubMed:24751727, PubMed:26603179). Prominent acanthosis, orthokeratotic hyperkeratosis in the epidermis of the ear and to a lesser extent in the epidermis of the tail and the palm skin caused by an increase in cell proliferation and thicker granular layer (PubMed:24751727). Keratinocyte differentiation is disorganized, large coalescent granules are accumulated, and cytolysis is evidence in the ear skin (PubMed:24751727). Increase in defective corneocytes and an increase in transepidermal water loss in ear skin (PubMed:24751727). Suprabasal keratinocytes contain distinct spongy clumps of Krt10 filaments (PubMed:24751727). Increase in Tslp and Il18 expression, and abundance of T-cells and mast cells in ear skin (PubMed:24751727). Increase in expression of Krt1, Krt10, Krt16, Flg and Loricrin in the ear epidermis (PubMed:24751727). Krt1, Krt5, Krt10, Krt16, Flg and Loricrin all show disordered localization within the ear epidermis (PubMed:24751727). Krt10 specifically show aggregation within the cytoplasm in epidermal cells of the ear (PubMed:24751727). Show no epidermal aberrations of the footpads (PubMed:26603179). Double knockout mice of KRT2 and KRT10 are viable and display no differences in size and body weight (PubMed:26603179). Show a more severe plantar epidermis phenotype as in single KRT2 knockout mice (PubMed:26603179)
Leads to the accumulation of phosphatidyl glycerol
Mutants lacking the tol-pal cluster suffer delayed outer membrane invagination and contain large outer membrane blebs at constriction sites and cell poles (PubMed:17233825). Tol-pal mutants fail to complete division and form cell chains, and fail to process denuded peptidoglycans at the septum (PubMed:32152098)
Knockout female mice are fertile, while the average number of pups that are fathered by knockout males is significantly lower than that of wild-type fathers
Cells lacking this gene show DNase activity when exposed to thermal stress. Also shows an increased ability of competence
A mutant lacking fatE, fpuC and fpuD ATPases is deficient in petrobactin import in iron-depleted conditions
Loss of DNA conjugation when disrupted in recipient strain, no effect when disrupted in donor strain (PubMed:18554329). The recipient strain secretes reduced amounts of EsxB (PubMed:18554329)
Cells are unable to produce dimethyl sulfide (DMS) from dimethylsulfonioproprionate (DMSP). Cells however grow normally on DMSP as sole carbon source
Increases synapse-specific, activity-dependent autophosphorylation of CaMKII Thr-287
Normal heat and mechanical sensitivity, as well as normal formalin-induced inflammatory pain. Reduced formalin-induced avoidance behavior, which reflects pain-related negative emotion, indicating a role in the affective, but not in the sensory component of the pain. Also exhibits altered behavioral responses in learning and memory
RNAi-mediated knockdown causes a severe loss of RNA polymerase II large subunit ama-1 phosphorylation
Cells are hypersensitive to the chlorinated hexaphenone DIF. They form slugs, but there is little or no stalk cell differentiation. After several days of developmental arrest very small spore masses appear that are supported by columns of apparently undifferentiated cells
Severe liver pathology rapidly occurs in knockout mice after 3-days withdrawal of dietary choline, which might occur during starvation, pregnancy or lactation, and may die after 4-5 days (PubMed:9765216). Homocysteine plasma content in knockouts is 50 percent less of the content in wild type mice (PubMed:12482759)
A quadruple eutP-eutQ-eutT-eutD deletion is not impaired for aerobic growth on ethanolamine (EA) supplemented with cobalamin (vitamin B12) (PubMed:10464203). Can grow on EA as sole carbon source when AdoB12 is supplied; double cobA-eutT mutants do not grow with CN-B12 as a nitrogen source (PubMed:15516577). A non-polar deletion mutant grows on EA from pH 5.5 to pH 8.0, but does not grow at pH 8.5, no change in acetaldehyde release on EA plus vitamin B12 (PubMed:16585748)
Cells lacking this gene show an attenuated bacterial persistence and virulence in immune-competent mice without affecting bacterial growth during the acute phase of infection
Cells lacking RtxA display strongly reduced virulence
Embryo defective. Developmental arrest of the embryo at early cotyledon stage
Disruption of the gene abolishes chemotaxis to benzoate, quinate, protocatechuate and shikimate. Inactivation of the gene does not alter competitive plant root colonization
Knockout elevates intracellular ATP levels and increases cold tolerance
No obvious phenotype under normal and high temperature or salt/osmotic stress conditions
Defects in the number and distribution of melanocytes
Cells lacking this gene show reduced levels of cell wall-bound corynomycolic acid methyl esters (CMAMEs)
No visible phenotype when grown under normal light conditions; due to the redundancy with BCH1. Bch1 and bch2 double mutant has no visible phenotype, but lower levels of beta, beta-xanthophylls and increased beta-carotene and lutein. Cyp97c1, bch1 and bch2 triple mutant is paler and smaller than wild-type
Abolishes the production of cichorine
Moderately decreased resistance to gamma and UV irradiation, no effect on H(2)O(2) resistance (Ref.2). Slightly reduced DNA synthesis rate even in the absence of ionizing radiation (IR); after IR chromosome fragment assembly is delayed. Double recA-radA deletion mutants have lower rates of DNA synthesis than the recA deletion alone with or without IR (PubMed:19303848)
Reduced anchoring of heterochromatin to the nuclear periphery which is exacerbated on an mrg-1 mutant background and is partially blocked by RNAi-mediated knockdown of cbp-1 or atf-8 (PubMed:26607792, PubMed:31118512). Altered nucleolar localization with nucleoli positioned away from the nuclear periphery (PubMed:26607792). When exposed to hlh-1, a transcription factor that induces muscle differentiation, 25% of embryos continue to develop and the embryonic cells do not transdifferentiate into muscle-like cells like their wild-type counterparts (PubMed:26607792)
Cannot be transmitted through the female germ line. Impaired megagametogenesis visible from the four-nucleate stage, with two normal nuclei and two degenerated nuclei, leading to female sterility. Normal response to cytokinins
Smaller PYK10 complexes
Embryonic lethal. In 0-2 hr embryos, mutants display signs of incomplete chromosome segregation during mitotic divisions likely due to defective organization of spindle microtubules
Defects in mitotic chromosome cohesion and condensation due to aberrant checkpoint control in response to DNA replication inhibition or damage to chromosomes; premature chromosome condensation and precocious sister chromatid separation figures
RNAi-mediated knockdown causes a significant reduction in total sleep amount (PubMed:24658384). It also causes significant male-male courtship behavior although a number of flies appear to behave normally (PubMed:26469541)
Pollen exine layer defects. Reduced accumulation of flavonoid precursors and flavonoids in developing anthers. Plants lacking both PKS-A and PKS-B are completely male sterile, with no apparent exine, thus leading to pollen grain collapse under vacuum. Altered pollen-stigma adhesion
Insensitivity of pollen tubes to CLE43 and, partially, to CLE45 peptides-mediated growth stimulation (PubMed:23910659). Pollen tubes of plants missing both SKM1 and SKM2 are fully insensitive to CLE45 peptides (PubMed:23910659). Reduced seed production at 30 degrees Celsius, but not at 22 degrees Celsius (PubMed:23910659)
Impairs growth on L-tyrosine as the sole carbon (PubMed:19028908). Leads to the accumulation of homogentisic acid (HGA) and its subsequent polymerization to pyomelanin (PubMed:19028908)
Embryos die around 15.5 dpc with severe vascular defects. 10.5 dpc mutant embryos have defects in patterning of the ventral spinal cord that are characteristic of defects in Shh signaling. 14.5 dpc embryos exhibit microphthalmia and polydactyly, consistent with disruptions in Shh signaling
Normal magnetic response, smaller, widely spaced magnetosomes. Near wild-type localization of MamC (PubMed:24816605). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Not impaired in germination, but much slower rate of postgerminative growth
No visible phenotype under normal growth conditions, but the double mutants tta1 and tta2 exhibit a rootless phenotype and seedling lethality (PubMed:22378640). No visible phenotype under normal growth conditions, but the double mutants obe3-2 and obe4-2 exhibit broad growth defects and developmental arrest of seedlings (PubMed:27196372)
Mutant mice show corneal defects characterized by progressive thickening of the stroma and descement membrane concomitant with increased sodium chloride concentration in the stroma (PubMed:20185830, PubMed:23813972). They show impaired urinary concentration, increased urinary volume, and increased urinary sodium loss in the kidney. They also show stress-induced morphological changes of fibrocytes of the inner ear resulting in deafness
Mutant accumulates 4-hydroxyprotoasukamycin
Male and female infertility (PubMed:15824319). Postmeiotic germ cell mRNA levels are greatly reduced (PubMed:15824319). Spermatogenesis arrests in late spermiogenesis (PubMed:15824319). Early loss of oocytes followed by defects in ovulation in observed in females (PubMed:15824319)
Th1 cells lacking Hlx or Tbx21 fail to express normal levels of the Th1-specific cytokine Ifng
Reduced brood size, which is in part due to an abnormal distribution of male-derived sperm in the hermaphrodite uterus following mating, with sperm reversing course frequently and accumulating at the spermathecal-uterine valve 1 hour following mating (PubMed:28662030). No visible defects in oogenesis (PubMed:28662030). Double knockout with the mcu-1 ju1154 mutant suppresses the sperm navigation defect in the srb-13 single mutant (PubMed:28662030)
No visible phenotype, due to the redundancy with the other members of the YUCCA family
Fails to produce F9775 A and B, but accumulates diorcinol and continues to yield orsellinic acid (PubMed:20174687)
Cells are less adhesive to the substrate and remain competent to aggregate, although multicellular development is severely impeded from the mound stage. They are defective in proper cell type proportioning, cell sorting, slug migration and form defective fruiting bodies
About 50% reduction of binding to immobilized human fibronectin, greatly reduced mortality in mice (tested with encapsulated strain D39)
When tested in an R1 strain with only a single IS200 element (DR_1651 and DR_1652), required for transposition of the IS element; single tnpA or double tnpA-tnpB deletions leads to loss of transposition
Displays slower vegetative growth under nutrient starvation conditions and leads to the inability to form fruiting bodies (PubMed:27309377)
Hypersensitive to the acetylcholinesterase inhibitor aldicarb. In a slo-1 (ky399gf) gain of function mutant, restores normal locomotory speed and sensitivity to aldicarb
Albino seedlings leading to lethality. Abnormal plastids lacking internal membrane structures
This gene cannot be deleted or disrupted in the absence of a complementary copy expressed in trans, indicating this gene is essential in B.abortus
On a temperature-sensitive daf-7 mutant background, enhances entry of larvae into the developmentally arrested state known as dauer, and also suppresses exit from dauer (PubMed:22359515). Up-regulates expression of the potassium channel exp-2 (PubMed:22359515)
Abolishes citrate export
Abnormal mitochondrial morphology with localized swellings and tubular extensions. Double knockout with moma-1 or immt-1 results in reduced or no brood, poor growth and withered gonads. Furthermore, in double knockouts with moma-1, the gonads contain fewer mitochondria
Controversial. Hypermotility, up-regulation of flagellar genes and up-regulation of flagellar protein FliC (PubMed:20494990). Decreased viability following HOCl stress; no effect on motility was seen in this study (PubMed:22223481)
Embryonic lethality. Both homozygous and hemizygous females show maternal effect lethality and produce syncytial embryos that fail to develop as a result of mitotic defects
Cells lacking TTLL3A and TTLL3B show a strongly reduced level of monoglycylated tubulin and a moderately reduced level of polycylated tubulin. Cells lacking TTLL3A, TTLL3B, TTLL3C, TTLL3D, TTLL3E and TTLL3F display shortened axonemes that are resistant to paclitaxel, indicating that tubulin glycylation changes the lattice properties of axonemal microtubules. Axonemes are however normal at the ultrastructural level
Disruption of the gene causes severe decrease in chloramphenicol production
Grows readily on glucose and maltotriose, but not on glycogen. No soluble alpha-glucooligosaccharides detected in the culture supernatant
Accumulates fusicoccin J
Defective in root hair expansion (PubMed:20562230). Mutant plants are resistant to the inhibitory effect of intermediate levels of indole-3-butyric acid (IBA) and 2,4-DB on root elongation (PubMed:17277896, PubMed:18725356)
Hypersensitivity to abscisic acid in the early developmental stages
Early flowering in short-day growth conditions (PubMed:18547399). Slightly slower endocytosis with delayed internalization (PubMed:18547399, PubMed:23342166). Reduced Brefeldin A sensitivity (PubMed:23342166)
Deletion decreases host innate immune response. Diminishes bacterial phagocytosis by host alveolar macrophages
Slightly higher accumulation of Pseudomonas syringae pv. tomato DC3000 in infected leaves. Partially impaired systemic acquired resistance (SAR) in response to incompatible interaction. When associated with LOX1 disruption; hypersensitivity to the growth-inhibitory effect of abscisic acid (ABA) accompanied by an accumulation of ABA-inducible marker genes
Essential, it cannot be deleted (PubMed:9755166, PubMed:24239291). When depleted for ClpP cells arrest before the initiation of chromosome replication and are blocked in the cell division process (PubMed:9755166). Deletion of socB permits slower than wild-type growth of the clpP disruption
Cells lacking this gene accumulate GlcNAc and MurNAc. Deletion of this gene increases fosfomycin sensitivity
Abnormal activation of TORC1 signaling during high hydrostatic pressure (mechanical stress) (PubMed:32801125). Abnormal punctate localization of TOR1 (PubMed:32801125). Increases cellular levels of glutamine and alanine during high hydrostatic pressure (mechanical stress) (PubMed:32801125). Sensitive to rapamycin and high hydrostatic pressure (mechanical stress) (PubMed:29698392, PubMed:32801125). Simultaneous disruption of PIB2 results in loss of viability (PubMed:29698392)
Plants exhibit an increased drought tolerance and an enhanced sensitivity to abscisic acid (ABA) during the stomatal regulation
Knockout mouse hearts exhibit a 36% reduction in fractional shortening and an increased diastolic ventricular chamber size (PubMed:28778945). Mutants show cardiac conduction system abnormalities with aberrant atrioventricular conduction and an increased rate of arrhythmia (PubMed:28778945)
The deletion mutant can produce both marinolic acid and acyl pyrrothines, but not thiomarinol
The mia2 mutants do not express the protein in the axoneme and display slightly jerky, slow swimming phenotypes, reduced flagellar beat frequencies and defective phototaxis
Impaired NADH:ubiquinone oxidoreductase complex (complex I) assembly
Mutant plants are hypersensitive to nitrogen or carbon starvation and show early senescence
Phosphatidylinositol dihydroceramide (PI-DHC) and phosphatidylinositol diacylglycerol (PI-DAG) are absent, phosphoceramide (IPC) levels are severely reduced and ceramide levels are increased (PubMed:35080445, PubMed:35725777). Inositol absent from capsular glycosyl residues (PubMed:35725777). Abnormal capsule morphology (PubMed:35725777). Results in a mild growth defect (PubMed:35080445, PubMed:35725777). Sensitive to cathelicidin LL-37 (PubMed:35725777). Abnormal RNA level of genes involved in capsule biosynthesis (PubMed:35725777). Does not appear to affect production of outer membrane vesicles (OMVs) or OMV cargo selection (PubMed:35080445)
Cell-autonomous defect in the development of red pulp macrophages, but normal monocyte and other macrophage subsets. Mice show normal trapping of red blood cells in the spleen, but fail to phagocytose these cells efficiently and develop an iron overload localized selectively to splenic red pulp
AKAP8 and FIGN double mutant mice die soon after birth due to cleft palate
Abolishes the production of (2R)-annullatin F and (2R)-annullatin G but not that of (2S,9S)-annullatin D and (2S,9S)-annullatin H
Lethal at larval stage (PubMed:30735487). RNAi-mediated knockdown results in extra vein material (PubMed:30735487). RNAi-mediated knockdown in the wing results in tissue overgrowth due to enhanced cell proliferation (PubMed:30735487)
The mature pollen grains are arranged in a tetrad. No visible phenotype regarding floral organ abscission
Death shortly after birth due to loss of epidermal barrier function resulting from perturbation of late-stage epidermal differentiation structures including the cornified envelope. When selectively deleted in the surface ectoderm-derived structures of the eye, embryos develop normally and adults are viable and fertile but mutants display down-regulation of Krt12 and Aqp5 and multiple ocular defects including corneal epithelial fragility, stromal edema, defective lens and loss of conjunctival goblet cells
Severe growth defects, and inability to flower and produce seeds
Decreases the mortality of the host cotton stainer bug Dysdercus peruvianus after infection
Defective in adventitious (crown) root formation (PubMed:15829602, PubMed:15960615). Reduced lateral root formation (PubMed:15829602)
No visible phenotype under normal conditions. Under amino acid starvation, mice continue to synthesize muscle protein and degrade less muscle protein than wild-type, leading to a decrease in the blood levels of free amino acids. Besides, mutant mice display higher creatine kinase activity under amino acid starvation
RNAi-mediated knockdown results in an atrophied wing phenotype characterized by increased induction of cell proliferation in wing disks but failed cell cycle progression
Does not affect endocytosis of SEPP1 in the kidney proximal tubule (PubMed:18174160). Targeted disruption of LRP8 and VLVLR together results in a phenotype virtually indistinguishable from that seen in 'reeler' and 'scrambler' mice. Subtle effects of VLDLR deletion are found mainly in the cerebellum, whereas lack of LRP8 predominantly affects the positioning of the neurons in the neocortex. Besides brain formation defects, LRP8-deficient mice also exhibit male infertility
Developmental defects, reduced plant size, early flowering and decreased number of inflorescence secondary branches
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Strongly reduces conidiation (PubMed:28894236). Reduces also strongly the production of deoxynivalenol (DON), an important virulence determinant (PubMed:28894236)
Mutant mice are born at the expected Mendelian rate and have normal developmental and reproductive potential. They develop an abnormal corneal ultrastructure characterized by a lack of keratan sulfate proteoglycans that appears to be compensated by increased amount of elongated, branched electron dense chondroitin sulfate/dermatan sulfate proteoglycan filaments
Cells lacking this gene show only slightly increased sensitivity to DNA-damaging agents. However, cells lacking RecJ and with a mutated AadAB enzyme were extremely sensitive to these agents, as sensitive as recA deletion strains. The doubly mutated strain shows 10-fold impaired growth in the absence of these agents
Leads to the absence of respiratory complexes III and IV in mitochondrial inner membrane when MBA1 is also missing
No visible phenotype. Mice are fertile and do not exhibit behavioral phenotype. Mice show decreased production of inflammatory cytokines such as TNF and IL6 upon LPS-stimulation. Impaired cytokine production make mice less sensitive to LPS-induced endotoxic shock, but more susceptible to bacterial infection. Moreover, the amount of MAP kinase p38 is significantly reduced in cells and tissues. Mice lacking both Mapkapk2 and Mapkapk3 show further reduction of TNF production
Leads to high sensitivity to allyl alcohol, a compound indicative for potential defects in carbon catabolite repression (CCR), but does not affect growth in non-stress conditions, nor in the presence of 2-deoxyglucose (2DG), an additional indicator for defects in CCR (PubMed:32667960). Leads also to sensitivity to acrolein, menadione and t-butyl hydroperoxide (PubMed:32667960). Abolishes the production of gliotoxin (GT) and accumulates bisdethiobis(methylthio)-gliotoxin (BmGT) (PubMed:32667960). Leads to reduced expression of gliZ, gliT, gliF and gtmA in GT-inducing conditions (PubMed:32667960). Loses all ability to protect itself against exogenously added GT as well and reduces virulence (PubMed:32667960)
RNAi-mediated knockdown of the protein causes worms to become extremely lean and transparent. Slower progression through the larval stages, in particular the L1 and L2 stages. Increase in average life span, decreased brood size and loss of fat storage granules in the intestine leading to decreased opacity. Reduced rate of pharyngeal pumping, reduced size of proton pulses inside the cells, increased intracellular acidification, reduced uptake of fatty acids, and doubling of the defecation period
Enhanced drought and salt tolerance and modified gravitropic response associated with an increased expression of THAS1 (PubMed:21252258). Higher root lengths (PubMed:21252258)
Semi-dwarf
Fails to produce sterigmatocystin under conditions that supports production by wild-type. Able to grow without exogenous long-chain fatty acids
During N(2) starvation fewer PHB granules accumulate per cell, while their diameter is increased by about 25% after 6 days of nitrogen starvation. Decreased rate of PHB synthesis, however overall accumulation of PHB is not significantly different
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Strongly reduces conidiation (PubMed:28894236)
RNAi-mediated knockdown results in reduced survival upon paraquat treatment to induce oxidative stress
Increases frequency of mitochondrial genome loss and leads to synthetic letality with a prohibitin complex subunit PHB1 deletant
No visible phenotype under normal growth conditions at the permissive temperature of 30 degrees Celsius, but mutant seedlings develop chlorotic leaves with aberrant chloroplasts under the restrictive temperature of 20 degrees Celsius
Leads to auxotrophy for sulfur amino acids
Incomplete epiboly at gastrulation, characterized by blastopore closure defects and impaired axis formation
Failure to promote expression of the Hoxb3 reporter in rhombomere r5 in the hindbrain (PubMed:11823429). Changed morphology of the sciatic nerves, with a higher density of Schwann cells, and a reduction in major components of compacted myelin, including lipidic components, as well as myelin proteins Mpz and Mbp (PubMed:7935840). Schwann cells in the sciatic nerves exhibit increased expression of Scip, reduced expression of Mpz, elevated mitotic activity and increased apoptosis at postnatal day P12 (PubMed:10068633). Total absence of myelin along the axons of sciatic nerves at postnatal day P15 (PubMed:7935840). Does not seem to affect the myelination in the central nervous system (PubMed:7935840). Signs of atrophy in the jaw openener anterior digastric (AD) and mylohoid (MY) muscles at 15 dpc with smaller diameter fibers, fibers with triangular shape, increased amount of connective tissue surrounding the fibers, suggesting a lack of neural innervation (PubMed:11509834). Reduced volume of the delineated trigeminal motor nucleus and restructuring of the brainstem at 15 dpc (PubMed:11509834). Reduced volume in both AD and MY musculature and reduced milk indigestion after birth (PubMed:11509834)
High chlorophyll fluorescence and deficiency in the accumulation of the cytochrome b6f complex subunits
Slight pale green leaf phenotype
Defects during gastrulation
Disruption mutant shows a significant decrease in the biosynthesis and accumulation of lipid droplets containing triacylglycerol and in its tolerance to rifampicin
Forms small colonies, liquid growth is unchanged. Increased sensitivity to UV light, mitomycin C, nitrosative and oxidative stress; a double uvrA/uvrD1 mutant is even more sensitive. Single uvrD1 mutant is strongly attenuated in late stages of mouse infection, the double uvrA/uvrD1 mutant is strongly attenuated at all stages of infection
Loss of export of cell wall protein GspB, the protein accumulates intracellularly in protoplasts
Cells lacking griE and griF show accumulation of the 3-amino-4-hydroxybenzaldehyde (3,4-AHBAL) intermediate
Cells grow faster, reach higher densities, exhibit delayed aggregates formation upon starvation and altered chemotaxis toward cAMP. Cells do not produce SDF-2 in response to GABA
Embryos show strong defects in late neuronal markers and strongly reduced and disorganized axons while early neural development is unaffected. Muscle development is also affected
Cells have serious developmental defects, because they are unable to activate the aggregation-stage adenylyl cyclase acaA in response to chemoattractant and are defective in chemotaxis
Accumulates 20-hydroxy-prefusarin (PubMed:23932525)
Embryonic lethality in inbred 129/Ola and outbred MF1 mouse strains: 7.5 dpc embryos display significant developmental retardation (PubMed:23333305). Female-specific lethality in a CD1 strain background, while males survive (PubMed:23333305). Surviving males grow normally, are fertile, but are subject to infections due to defects in the immune response (PubMed:23333305). Surviving males are severely compromised for TP53BP1-dependent class-switch recombination (CSR) and fusion of dysfunctional telomeres (PubMed:23333305)
Not mutagen-sensitive, and impaired in hyperrecombination (HR)
RNAi-mediated knockdown causes 63 percent embryonic lethality (PubMed:16788047). Embryonic lethality is further increased in simultaneous RNAi-mediated knockdown of mppa-1 and mppb-1 or ucr-1 and mppa-1 (PubMed:16788047)
Decreases MDR1 expression and leads to greater fluconazole and cerulenin susceptibility
Reduced brood size, but the majority of hermaphrodites are sterile and lay a large number of unfertilized oocytes (PubMed:29879108). Defective spermatid activation (PubMed:29879108). Double knockout with spe-4 results in failed spermatocyte division (PubMed:29879108). Double knockout with spe-6 results in suppression of the premature spermatid activation phenotype of the single spe-6 (hc163) mutant (PubMed:29879108)
Increases lung infection and lung injury by A.fumigatus (PubMed:27058347)
Mutant mice are fertile and have normal development. They display coat color dilution phenotype especially in the brown background. This is associated with abnormal melanogenesis characterized by spherical melanosomes and substantial reduction in eumelanin content in hair
Defects at both very early and later stages of endocytic transport in cells
RNAi-mediated knockdown causes an arrest at the 100-cell embryonic stage (PubMed:17291483). In developing oocytes, results in an abnormal accumulation of 'Ser-5' phosphorylated ama-1 and a more diffused nuclear localization of phosphorylated ama-1 (PubMed:17291483). 'Ser-2' phosphorylated ama-1 is present in diakinetic oocyte but at low levels indicating that transcription is possibly blocked at the elongation stage (PubMed:17291483). Increased levels of 'Ser-2' phosphorylated ama-1 in embryonic and germline nuclei (PubMed:23903194). Simultaneous knockdown of components of the transcription pre-initiation complex including ama-1, rbp-2, cdk-7, rgr-1 or taf-4 abolishes phosphorylation of the ama-1 CTD domain repeats at 'Ser-5' in diakinetic oocytes (PubMed:17291483). A similar abnormal accumulation of 'Ser-5' phosphorylated ama-1 occurs in 1-cell and 2-cell embryos (PubMed:17291483)
Deletion of acnR leads to a 5-fold increase of the aconitase activity. Overexpression of acnR leads to a 2-fold decrease of the aconitase activity
Not essential for growth on low light, loss of circadian cycle and rhythmicity
No visible phenotype. In a zig-5 mutant background, 74 percent of animals have cell bodies of ASI and ASH head neurons displaced either on the top of or anterior to the nerve ring. In addition, double mutants show defects in the positioning of the ventral nerve cord (VNC) axons characterized by axons of embryonically generated PVQ, PVP and HSN neurons from the left and right VNC drifting into the opposite cord (axon flip-over). Both defects begin at the L3 larval stage and become more pronounced at the L4 larval and adult stages. Cell body and axon positioning is normal in embryos and in L1 larvae. In a zig-1, zig-2, zig-3 or zig-4 mutant background, cell body positioning of ASI and ASH head neurons is normal. In unc-13 or unc-54 mutant background, where locomotion is impaired, cell body positioning of ASI and ASH neurons is normal. In a sax-7 (nj53) mutant background, cell body and axon positioning is normal. Simultaneous RNAi-mediated knockdown of zig-5 and zig-8 at the embryonic, larval or adult stage causes a displacement of ASI and ASH head neurons in 6 to 9 percent of animals
Mutants show a stationary-phase competition defect during coculture with wild-type cells and an inability to utilize extracellular DNA as the sole source of carbon or energy. They have no defects in DNA uptake by electroporation or when made chemically competent (PubMed:11591672)
Leads to increased resistance to the chitin synthase inhibitor nikkomycin Z
Impairs NADase cleavage in conidia
Eliminates the ability to metabolize BOA
Mitochondrial fragmentation: mitochondria become round and show loss of cristae (PubMed:26711011). Female mice show decreased quality of oocytes (PubMed:26716412). Mice lacking both Miga1 and Miga2 show strongly reduced quality of oocytes and are subfertile (PubMed:26716412)
Reduced accumulation of glucose and fructose during cold adaptation associated with lower glucose import into vacuoles (PubMed:17158605). Plants lacking both MSSP1 and MSSP2 have reduced fresh weight when grown on high glucose containing medium or in response to cold stress, and exhibit increased glucose cytosolic concentrations leading to the stimulation of mitochondrial respiration (PubMed:17158605). In triple knockout plants missing MSSP1, MSSP2 and MSSP3, reduced accumulation of glucose and fructose during cold adaptation (PubMed:17158605)
Viable with no significant effect on survival (PubMed:25573892). Macrophage and neutrophil counts are normal (PubMed:25573892). Macrophage migration in response to cxcr3.2-independent stimuli is not affected, although the basal migration rate is reduced (PubMed:25573892). Macrophage migration to sites of bacterial infection by S.typhimurium or M.marinum is reduced (PubMed:20424185, PubMed:25573892). Dissemination of bacterial infection to distant sites and granuloma formation is also reduced (PubMed:25573892)
Not essential; a double ligC1-ligC2 mutant grows normally, no effect on NHEJ. In a triple deletion with ligD NHEJ on blunt-ended plasmid is 90-fold impaired. In quadruple ligB-ligC1-ligC2-ligD deletions NHEJ on blunt and 5'-overhangs is 0.22 and 0.12% of wild-type respectively; only 4-fold decrease in 3'-overhang NHEJ
Embryonic lethality due to defects in chromosome segregation during cell division, resulting in aneuploidy and loss of genomic stability
Severe pollen transmission deficit due to altered pollen tubes that are short and twisted
Has short primary roots. Root hairs are also short and wavy. Epidermal cells of wild-type roots are two times longer than epidermal cells of the mutant roots. Short primary roots of the mutant are impaired in F-actin organization due to extensive bundling. Reduced primary root growth of mutants indicate defects in both cell division and cell expansion. Total folate content does not significantly change between the wild-type and mutant in either shoots or roots. However, differences in the accumulation patterns of some folate classes, and general changes in the contribution of each folate class to the total folate pool are found. A considerable increase in total monoglutamylated folates in mutant roots when compared with wild-type is found. This difference is not observed in shoots. Total polyglutamylated folate content is not altered in either tissue. Nucleotides and amino acids are generally depleted in mutant. Vegetative phenotype does not differ visually from wild-type. Polyglutamylated folates are still detectable in the disruption mutant. In comparison to wild-type, the plastid and mitochondrial folate levels are reduced by approximately 50 and 25%, respectively. Folate polyglutamylation levels are significantly reduced but not abolished within the respective compartments. Combined loss of FPGS1 and FPGS2 result in embryo lethality. This double mutant has abnormal seeds that are readily distinguishable as albinos which do not proceed beyond the globular stage of embryogenesis. The absence of a developing embryo lead to collapse of seed walls, leaving shrivelled seed reamnants. FPGS1 and FPGS3 double mutant exhibits dwarfed leaves, late flowering (approximately 13 days after wild-type), reduced fecundity and delayed senescence. Pollination with FPGS1 and FPGS3 double mutant pollen yield at most one or two seeds per silique compared to the yield of full siliques when wild-type stigmas are pollinated with wild-type pollen. There is a 40% reduction in the total of 5-CH(3)-THF pool in FPGS1 and FPGS3 double mutant leaf tissue. FPGS1 and FPGS3 double mutants have 70% lower methionine content than wild-type
Cells have reduced efficiency in fruiting body formation and reduced spore viability
Leads to slower vegetative growth and dark pigmentation of the mycelia (PubMed:26648962). Leads also to the secretion of a very dark pigment (PubMed:26648962). Affects sporulation and appressoria formation (PubMed:26648962). Shows hyper-branching of the germ tubes, as well as unusual bulges along the hyphae with less melainized appressoria (PubMed:26648962). Significantly reduces the production of abscisic acid (ABA) (PubMed:26648962). Highly reduces virulence (PubMed:26648962)
RNAi-mediated knockdown is lethal (PubMed:12590131). RNAi-mediated knockdown in imaginal disks causes a reduction in the wing size and a distal truncation of the legs (PubMed:12215432). Also, synthesis of heparan sulfate and chondroitin sulfate is reduced in the posterior region of late third instar wing imaginal disk (PubMed:12215432)
Increased stomatal density and violation of the one-cell-spacing rule (clustering of stomata)
No visible effect on flagellar structure, cell shape or motility. Adheres to host epithelial cells (human HEp2) but invades less well (14% suriving bacteria, determined by bacterial counts from lysed cells after 2 hours of gentamicin treatment)
Reduced tissue damage-mediated BGLU23/PYK10 activation. Larger PYK10 complexes
Arrests embryonic development prior to implantation. Embryos at 3.5 dpc lack the mature, tripartite nucleoli, but instead, contain spheres resembling nucleolar precursor body (NPB), indicating arrest of nucleologenesis
Mice exhibit embryonic lethality
No visible phenotype under normal growth conditions, but improved resistance of the seeds to deterioration during storage (PubMed:17565616). Insensitivity to abscisic acid for both promotion of stomatal closure and inhibition of stomatal opening (PubMed:16614222). Hypersensitivity to hyperosmotic stress (PubMed:19017627). Increased NaCl-induced disorganization of microtubules (PubMed:23150630). No effect on abscisic acid-induced stomatal closure (PubMed:22392280). Pldalpha1 and plddelta double mutants have a suppressed abscisic acid-induced stomatal closure (PubMed:22392280)
An increased rate of escape of mtDNA to the nucleus, no growth on nonfermentable carbon sources at 37 degrees Celsius, a cold-sensitive defect in growth on fermentable carbon sources, lethality in rho- (cytoplasmic petite) cells
Mutants show increased levels of cellular cAMP
Depletion of both phaC and phaE genes leads to complete loss of the PHA synthase activity
Severely reduces virulence
Increases cellular chitin level (PubMed:17142567). Increases chitin chain length (PubMed:17142567)
RNAi-mediated knockdown causes no visible phenotype, but animals have a reduced lifespan (PubMed:17204841). Accumulation of pgl-1-positive P granules in somatic cells (PubMed:19167332). Reduced lgg-1-positive autophagosomes in seam cells (PubMed:28758895). Delayed removal of paternal mitochondria in fertilized eggs (PubMed:22105480). RNAi-mediated knockdown reduces autophagic degradation of membrane pore-forming toxin Cry5B
USP18-deletion mice display increased levels of intracellular ISG15 conjugates
Cells lacking this gene show a high decrease in gamma-aminobutyraldehyde dehydrogenase activity, but are still able to grow with putrescine as the sole nitrogen source. However, a mutant lacking both patD and puuC cannot grow with putrescine as the sole nitrogen source
Abolishes the production of lucilactaene and NG-391, and leads to the accumulation of prelucilactaene A, prelucilactaene B, and two isomeric mixtures of prelucilactaene E, and prelucilactaene F
Cells lacking this gene result in flagellins and S-layer proteins with significantly reduced apparent molecular masses, loss of flagellar assembly and absence of glycan attachment
Cilia of at least eight pairs of amphid neurons from mutant dyf(m185) animals are truncated at a middle segment, and empty amphidial sockets were seen indicating cilium structural abnormalities
In PAK22, higher quantities of 57 kDa polypeptides and lower levels of 40 kDa acidic and 20 kDa basic glutelin subunits in seeds due to reduced vacuolar processing enzyme (VPE) activity and leading to non-crystalline lattice structure of protein storage vacuoles (PSVs). Seedlings growth retardation
Deletion results in an altered mode of murein synthesis
Mice were born with normal Mendelian ratio without developmental defects (PubMed:28655767). Cells show reduced N(3)-methylcytidine modification in mRNAs (PubMed:28655767)
Disrupted rod signaling and profound retinal dysfunction
Disruption of this gene affects neither growth on inositol nor the inducibility and catabolite repression of Idh synthesis
Mutant cannot grow on carnitine as a sole carbon and energy source, whereas the growth on succinate is not affected. Mutation abolishes trimethylamine formation from carnitine
RNAi MPK13 displays fewer lateral roots
No longer responds to changes in hemin, decreased removal of 4'-phosphate from lipid A species. Accumulates pentaacylated 4'-phosphate lipid A with concomitant loss of the usual non-phosphorylated tetraacylated lipid A. Lipopolysaccharide (LPS) or bacteria from this strain are a somewhat potent inducer of the human innate immune response via Toll-like receptor 4 (TLR4) in cultured HEK293 cells; double lpxE-lpxF mutants are more potent. Loss of resistance to the cationic antimicrobial peptide (CAMP) polymyxin B. Double lpxE-lpxF mutants accumulate multiple mono- and bi-phosphorylated lipid A species (PubMed:19552698, PubMed:20657724). Unable to colonize rabbit periodontium, a model for periodontal disease (PubMed:24478080)
Nodulates the roots of pea plants as long as branched-chain amino acids Leu, Ile and Val (LIV) are added to the plant growth medium, but forms fewer nodules compared to wild-type. Nodules infected by the mutant are more spherical and contain more starch than those infected with wild-type, however the bacteroids appear visually normal
Plants exhibit up to 50% growth reduction when they reach maturity
Leads to increased chitin content in the cell wall, hyperfilamentation, and resistance to sodium dodecyl sulfate, hydrogen peroxide, and sodium chloride. Shows also an increased virulence in a mouse model
Delayed dark-induced and natural senescence
Flagella motility defects
Cells lacking this gene are unable to produce 8-demethyl-8-aminoriboflavin (AF)
Leads to severe mitotic defects that include aneuploidy, spindle mispositioning, fish hooks and aberrant spindle kinetics
Mice show normal motor coordination and visual acuity, but are hyperactive, exhibit defects in spatial learning ability and show reduced anxiety-like behavior (PubMed:24494598). Show a higher incidence and a shorter latency to seizure progression compared to wild-type mice (PubMed:24494598). Display reduced fasting blood glucose levels and elevated serum insulin levels (PubMed:17767909, PubMed:19383458). Glucose tolerance and insulin secretion is enhanced compared to control animals (PubMed:17767909, PubMed:19383458). Show impaired long-term potentiation in hippocampal neurons (PubMed:24494598). Display a reduction in the slowly deactivating delayed rectifier potassium current in hippocampal pyramidal neurons (PubMed:24494598). Glucose-induced action potential (AP) duration and amplitude is increased while the firing frequency is reduced in pancreatic beta cells (PubMed:17767909, PubMed:19383458)
Plants exhibit a dwarf phenotype with fewer flowers, large cells with multiple nuclei in various organs and large malformed pollen grains. Defects in the formation of the cell plate. RNAi MKK6 displays fewer lateral roots
Decreased virulence in a mouse model of invasive infection
Mice display a perturbation in cell fate determination in the lateral aspect of the otic epithelium results in reduced cell proliferation in epithelial cells, which includes the vestibular sensory patches and semicircular duct fusion plates, as well as in the adjacent mesenchyme. Consequently, enlargement and morphogenesis of the pars superior of the otocyst to form a complex labyrinth of cavities and ducts is blocked, as indicated by the lack of any distinguishable semicircular ducts, persistence of the primordial vestibular diverticula, significant loss in the 3 cristae and the macula utriculus, and a fused utriculosaccular chamber. Mice lacking both Hmx2 and Hmx3 show a complete loss of balance, postnatal dwarfism, defects in neuroendocrine system, disturbed hypothalamic-pituitary axis and subsequent die. Defects caused in mice lacking both Hmx2 and Hmx3 can be rescued by expressing the Drosophila Hmx protein
Causes higher susceptibility to itraconazole (ITC) and rhodamine 6G (R-6G) (PubMed:29378705). Causes further increase in susceptibility toward fluconazole and itraconazole, when AFR1 and MDR1 are also deleted (PubMed:29378705)
Disruption mutant is sensitive to bacitracin
Animals are fertile with a growth rate equivalent to that of wild-type. Males weigh less, exhibit reduced fasting glycaemia and improved glucose tolerance, but retain normal insulin sensitivity
Disruption mutant shows growth defect on DDVA
Reduced ethylene levels
Attenuates virulence in a mouse model of systemic infection
RNAi-mediated knockdown in a ced-3 n2436 mutant background results in the production of extra A/PVM neurons; the precursor Q.pp, which is normally fated to die, acquires the fate of its sister Q.pa
Null cells differentiate into prestalk cells preferentially. They develop precociously and exhibit abnormal cell-type patterning with an increase in the prestalk domain and reduction in the prespore domain in the slug, and spore domain in a fruiting body. Null cells do not form the normal spherical sori seen in mature wild-type fruiting bodies. Instead, the sori remain elongated, similar to those seen in wild-type fruiting bodies that are not fully mature. The upper and lower cups of the fruiting body, which are derived from prestalk cells and anterior-like cells, are enlarged. The spore-containing region is reduced. Null cells form fruiting bodies at approximately 17 hours and exhibit precocious expression of the spore marker. The expression levels of the prespore/spore markers are lower in null cells compared to wild-type cells, whereas expression of the prestalk/stalk marker is elevated slightly. The loss of gene function, might lead to increased mkkA ubiquitination and a more rapid turnover of mkkA. This should result in a reduced level of mkkA activity, producing the above mentioned mkkA null cell type phenotype
Mutants primary motor neurons have reduced axonal branching innervating the muscle fibers and secondary motor neurons have aberrant axonal structure. Mutants skeletal muscle show also an abnormal structure with disorganized myofibers and reduced synaptic formation at the neuromuscular junction. They show a progressive impairment of locomotor behavior and have smaller jaws and abnormal cartilage patterning compared to controls
RNAi-mediated knockdown in a ced-3 and ain-1 double mutant background reduces the percentage of animals with developmental defects including production of ectopic seam cells
Embryonic lethality when homozygous. Embryo development arrested at 2 to 4-cell stages
Deletion mutant results in a non-functional T2SS system
Impaired chloroplast development from proplastids or etioplasts leading to reduced chlorophylls and carotenoids accumulation. Reduced accumulation and maturation of some chloroplast-encoded transcripts. Leaves are pale with enlarged intercellular spaces, and loss of differentiation between palisade and mesophyll layers. Partially restored by cytokinin treatment
Cells have increased resistance to the purine analog 8-aza-2,6-diaminopurine (8-ADP)
No visible phenotype. Viable and fertile
No effect on circadian clock
No visible phenotype under normal growth condition, but slightly enhanced resistance of root growth in presence of Cd and increased accumulation of Mn and Zn under Fe starvation
No visible motility phenotype. Disruption of this gene suppresses the reduced motility of a pdeH disruption, thus the double disruption is motile
Abolishes the production of ACT-toxin and leads to the loss of pathogenicity (PubMed:20192828). Does not affect growth rate of cultures, sporulation, and spore germination (PubMed:20192828)
RNAi-mediated knockdown causes embryonic lethality and morphological defects in larva (PubMed:27176626). Embryonic lethality is exacerbated on the transcription factor aptf-2 mutant background (PubMed:27176626)
Deletion of the gene abolishes biotin uptake (Ref.5, PubMed:1091631). BioH-bioP double mutant is unable to grow on trace levels of biotin (PubMed:24256712)
Decreased biomasses and lower chlorophyll levels after sodium feeding. Increased Na(+) levels in chloroplasts in high sodium chloride conditions but impaired photosynthetic performance. Altered levels of phenylalanine and tyrosine
Deletion mutant can produce both the desmethyl aminobacteriohopanepentol and aminobacteriohopanetetrol but not their C-3 methylated counterparts. Deletion results in reduced intracytoplasmic membranes and in decreased survival in late stationary phase
Mice show impaired spermiogenesis, abnormal sperm morphology and significantly reduced sperm number and motility (PubMed:32233951). In addition to oligozoospermia, spermatozoa show dysmorphic and non-functional flagella (PubMed:32233951)
Abolished ability to grow on amylopectin and pullulan, as well as maltohexaose and maltoheptaose
Mice are viable and fertile but display a loss of coordination of limb movement associated with disruptions of cortico-spinal tract. They also display altered development of the thymic epithelium which leads to a defective T-cells development
RNAi-mediated knockdown results in an extended lifespan, reduced brood size, slower growth rate and increased fat storage
Morpholino knockdown results in aberrant early brain morphogenesis due to disrupted cell convergence in the lateral neural plate with mutants showing an abnormally wide neural plate (PubMed:21115806). Mutants show impaired directedness of cell movements and impaired coherence of movements among neighboring cells (PubMed:21115806)
No visible phenotype. Myb21 and myb57 double mutant has an intermediate sterility phenotype and petals that grew to a final height parallel to the pistil. Myb24 and myb57 double mutant has petals that grew to a final height parallel to the pistil. Myb21, myb24 and myb57 triple mutant has a strongly reduced fertility and an arrested growth of the petals that never grew out of the sepals
No visible phenotype under white light, but inhibition of growth and leaf necrosis under white light and UV-B. Increased accumulation of CPDs under UV-B
Disruption of the gene does not affect tellurite uptake
Deletion of the gene strongly reduces nickel transport and urease activity. Mutant shows decreased virulence in a mouse model of ascending UTI. Nickel accumulation and urease activity are almost completely abolished in a nixA-nikA double mutant
Embryonic lethal. Lethality occurs between embryonic day E3.5 and E7.5 (PubMed:17043311). Heterozygous males are fully fertile (PubMed:23487765). Double knockouts of ARID4B heterozygotes with ARID4A homozygotes show various hematological abnormalities, which are more severe than the ARID4A phenotype alone. Hematopoietic stem cell (HSC) and common myeloid progenitor (CMP) counts in bone marrow and spleen are increased. Lymphocyte numbers in spleen are significantly reduced. In peripheral blood, red blood cell counts and lymphocyte counts are reduced. Approximately 83% of animals develop acute myeloid leukemia (AML) and/or myeloid sarcoma. In bone marrow cells, expression of FOXP3 is significantly reduced (PubMed:18728284). Expression of HOXB3, HOXB5, HOXB6, HOXB8 and PITX2 in bone marrow cells is reduced (PubMed:17043311). Males show progressive reduction in fertility from 2 months of age onwards, with reduced testis size and variable defects in seminal vesicle formation. Spermatogenesis is partially blocked from the meiosis II stage onwards leading to reduced numbers of mature spermatozoa. Expression in testis of CLDN3, an androgen receptor-regulated gene, is significantly reduced. Expression of PTGDS is also reduced, whereas expression of INHA and EMB is moderately increased (PubMed:23487765)
The inactivation of the gene does not affect vegetative growth, spore viability, or the initial stages of germination, including dipicolinic acid release. However, germination of mutant spores is slightly delayed and mutants retain more diaminopimelic acid and N-acetylmuramic acid during germination than wild-type spores
Deletion mutant does not produce OH-dDHL
Delayed germination, chlorotic cotyledons and death at the cotyledon stage
Abnormal amyloplast sedimentation and shoot gravitropism. Abnormal gravitropism in both inflorescence stems and hypocotyls accompanied by misshapen seeds and seedlings, including leaf movement in darkness. Reduced formation of vacuolar membrane 'bulbs'. The sgr2-1 mutant has no gravitropic response in inflorescence stems but a reduced gravitropic response in hypocotyls
Cells lacking this gene are unable to grow
Mice develop normally and are fertile. They however show defects in synaptic plasticity, impaired spatial learning and memory and conditioned fear-associative memory deficits (PubMed:16237163). Mice show behavior defects and autistic-like phenotype, characterized by social interaction deficits, altered communication and repetitive/stereotyped behaviors: they show an increased ratio of excitatory to inhibitory synaptic inputs possibly due to increased translation of neuroligin family proteins (PubMed:17029989, PubMed:23172145). Mice lacking both Eif4ebp1 and Eif4ebp2 display increased their sensitivity to diet-induced obesity (PubMed:17273556). Mice lacking both Eif4ebp1 and Eif4ebp2 show defects in myelopoiesis: mice display an increased number of immature granulocytic precursors, associated with a decreased number of mature granulocytic elements (PubMed:19175792)
Leads to a clear defect in the ability to grow in both copper excess or copper deficiency conditions (PubMed:29608794). Impairs the activation of laccase LAC1 transcription by copper (PubMed:17290306, PubMed:19459959). Reduces also the expression of the genes coding for the copper transporters CTR1 and CTR4, and the metallothioneins CMT1 and CMT2 (PubMed:21819456). Impairs the induction of the copper acquisition factor BIM1 under copper-limiting conditions (PubMed:31932719). Impairs induction of super oxide dismutase SOD2 under copper-limiting conditions (PubMed:33567338). Impairs repression of super oxide dismutase SOD1 under copper-limiting conditions (PubMed:33567338). Leads to increased cell size and number of mitochondria within the cells, and a higher production of capsules (PubMed:20112673, PubMed:23511945). In copper-limited growth, exhibits copper deficiency, growth defect on glycerol and sensitivity to hydrogen peroxide and methionine (PubMed:17290306, PubMed:21489137). Shows severe hypersensitivity to exogenous copper, while a high level of copper accumulates when copper is in excess (PubMed:21489137). Results in attenuated virulence in an in vivo mouse model of cryptococcosis (PubMed:17290306). In mouse models, exhibits reduced dissemination to the brain, but no change in lung growth (PubMed:17290306)
No visible phenotype but displays lower levels of thiols in roots (PubMed:18024555). Growth retardation (PubMed:18223034). Defects in root hair formation (PubMed:22511607)
Viable and fertile (PubMed:28068334). No effect on sup-17 localization in embryos (PubMed:28068334). In a tsp-12 (ok236) mutant background, exhibits vulva morphogenesis defects, impaired egg-laying, smaller body size and reduced RAD-SMAD reporter expression, a reporter system for the sma-6/daf-4 BMP-like pathway (PubMed:28068334). Males have severe tail defects including crumpled spicules, fused and shortened sensory rays and smaller fans (PubMed:28068334). F1 progeny die at the late embryonic stage with defects in ventral enclosure (PubMed:28068334). In a sma-9 (cc604) and tsp-12 (ok236) mutant background, restores the production of the 2 M lineage-derived coelomocytes (PubMed:28068334). In a glp-1 (ar202) mutant background, partially restores normal fertility (PubMed:20220101)
Plants are hypersensitive to red light, exhibiting shorter hypocotyls and larger cotyledons
Significantly reduced survival in human serum, probably due to complement-mediated killing
Moderate reduction in cell number (PubMed:19392710). Abnormal leaf patterning, with the abaxial mesophyll features appearing in the adaxial mesophyll domain (PubMed:18305007). Double mutants oli2 oli7 have further reduced cell number but exhibit also excessive postmitotic cell enlargement in leaves (compensation phenotype) (PubMed:19392710). Plant missing both OLI7 and GIF1/AN3 have a strong compensation phenotype (PubMed:19392710)
Loss of growth based on sulfite respiration
The deletion mutant cannot produce petrobactin on iron-depleted medium. In vitro analysis show that mutants grow to a very limited extent as vegetative cells in iron-depleted medium but are not able to outgrow from spores under the same culture conditions
No visible phenotype. Mice are fertile despite a significant reduction in sperm count
Not essential
Cells lacking this gene are not viable (PubMed:22520756). Knockdown or depletion of this gene leads to accummulation of trehalose monomycolate (TMM) and lack of trehalose dimycolate (TDM) (PubMed:31239378, PubMed:22520756). Decrease in mycolylation of arabinogalactan (AG) (PubMed:22520756). Accumulates MSMEG_5308 protein (PubMed:31239378)
Blocks sclerotial formation, reduces conidiation both on the culture medium and on peanut seeds, and abolishes production of the visible orange aflatoxin intermediate versicolorin A (PubMed:15294809). Fails to accumulate aflatoxisomes under aflatoxin-inducing conditions in the dark (PubMed:19889978). Enhances accumulation of metabolites in branched chain amino acid catabolism and increases ethanol production (PubMed:20735852)
Mutant mice die between 11.5 and 12.5 dpc. At this stage, no defects are detected in the development of extraembryonic tissues, cardiovascular system, axonal trajectories and peripheral nervous system. Mutants display decreased complexity of the hierarchically organized branches of the cranial blood vessels (PubMed:15743826). Mutant mice are viable and fertile (PubMed:21835343)
For single chrR mutant about 12-fold increase in rpoE-regulated genes. For double rpoE-chrR deletion mutant no effect on anaerobic photosynthetic growth. In illuminated aerobically growing cells double deletion is bacteriostatic
RNAi-mediated knockdown causes 54 percent embryonic lethality (PubMed:16788047). Embryonic lethality is further increased in simultaneous RNAi-mediated knockdown of mmpa-1 and mmpb-1 or ucr-1 and mppb-1 (PubMed:16788047)
Weak defect in the extension of body wall muscle connections or arms towards the ventral nerve cord. Double knockout with madd-3 suppresses the muscle arm extension defects, eva-1 and rab-7 expression defects and restores the defect in the recruitment of madd-4 to the muscle membrane in the madd-3 single knockout. Triple knockout with madd-3 and unc-54 results in paralysis (as in the unc-54 single knockout), and suppresses the lethality phenotype in the double madd-3 and unc-54 mutant
Mice die between day 9 and day 10 of gestation with several defects including a non-functional neural tube. SRC and FYN kinases show increased activity when CSK is missing
Narrow and down-wardly curled leaves (PubMed:20807212). The pear1 pear2 tmo6 triple mutant variably displays reduced radial growth. The pear1 pear2 dof6 tmo6 quadruple mutant plants showed a greater uniform reduction in radial growth, associated with compromised symplastic trafficking (PubMed:30626969)
Altered 5'-processing of primary pre-tRNA transcripts with short (<5 nucleotides) leaders; in the presence of the truncated inactive allele encoded by rph in strains derived from K12 W1485, including strains MG1655 and W3110 (PubMed:28808133). In the presence of wild-type (catalytically active) RNase PH no effect on processing (PubMed:28808133). No effect on growth rate, a slightly stronger effect is seen when combined with the inactive rph allele (PubMed:28808133)
Mice generally die within 24 hours after birth. They display altered Purkinje cells migration, unstable synaptic junctions, defective ventricular architecture, impaired axon migration, reduced number of neurons in specific nuclei, and disordered laminar formation
Mice were born at the Mendelian ratio and do not show defects in development and immune cell differentiation (PubMed:30193849). Mice are however more susceptible to DNA and RNA virus infection (PubMed:30193849, PubMed:30135424)
Mutants show minor defects in the assembly of outer membrane proteins
Mice appeared outwardly normal and are viable and fertile. Show hypertrophy of the right atrium and ventricle, disarrangement of striated muscle fibers in the heart, and pulmonary hyperplasia (PubMed:18070924)
Mutant embryos die in utero before 7.5 dpc
Disruption of the gene results in a defective outer membrane barrier with elevated sensitivity to a range of compounds (PubMed:30201701). Mutant shows attenuated virulence in an oral infection model and during the early stages of systemic infection (PubMed:30201701). Loss of the gene does not have a global effect on outer membrane proteins, lipopolysaccharide or lipoprotein production, and does not impact adhesion, invasion or intracellular survival (PubMed:30201701)
Maintenance of negative gravitropic hypocotyls grow after exposure of seedlings to red (R) or far red (FR) light. Reduced seedlings viability
Loss of DRM2 controlled DNA methylation, but no effect on CMT3 or MET1 controlled methylation
Leads to the cellular accumulation of fenarimol (PubMed:10954082). Leads to increased susceptibility to cycloheximide, the cyclosporin derivative PSC 833, nigericin and valinomycin (PubMed:10954082)
Loss of function results in a suppression of sel-12 mutant phenotypes, possibly by up-regulating hop-1 expression (PubMed:12411496). Double knockout with lin-35 results in defects in growth, vulval morphogenesis, somatic gonad development and fertility (PubMed:17070797)
Affects O-mannosylation activity only when PTM1 and PTM2 are absent
Greatly reduced swarming motility, less flagellin (PubMed:16936039, PubMed:21895793). Fewer, shorter flagella assemble (PubMed:21895793). Loss of motility and flagellar assembly are suppressed by deletion of csrA (PubMed:21895793). Decreased expression of flagellin (Hag) which is suppressed by deletion of csrA (PubMed:23144244)
Mutant cannot produce monoacetylphloroglucinol (MAPG) or 2,4-DAPG
Deletion mutant mice show earlier onset of death and exhibit higher mortality in response to lethal challenge with LPS. The production of TNF-alpha, IL-6, and IL-1beta is also significantly up-regulated after TLR challenge
Retarded growth and slight chlorosis due to decreased chloroplast photosynthetic capacity. Reduced accumulation of starch in leaves. Late flowering when grown under short-day conditions
Null mice have an abnormal skeletal muscle fiber type ratio in males as well as defects in muscle regeneration following injury (PubMed:19914232). Male germ-cell-specific conditional knockout results in complete male infertility, early loss of spermatogonia and meiotic arrest in spermatocytes (PubMed:27739607). Spermatocytes show significantly reduced expression meiotic arrest-related genes (PubMed:27739607)
Plants display a short hypocotyl phenotype. Kup2-2, kup2-3 and kup2-7 are considered as null mutants
No visible phenotype; mice are viable and fertile and do not exhibit any overt phenotype (PubMed:11875043). Mice however show behavioral abnormalities, characterized by hyperactivity (PubMed:11875043). Increased proliferation of radial glia-like neural stem/progenitor cells in the adult dentate gyrus caused by increased Nog (Noggin) expression and subsequently reduced BMP signaling (PubMed:21658585). Misregulation of a number of transcripts involved in memory or cognitions is observed in the brain of mutant mice (PubMed:18930145). Mice lacking both Fxr2 and Fmr1 display exaggerated learning deficits, characterized by prepulse inhibition of acoustic startle response and contextual fear conditioning compared with single mutant (Fxr2 or Fmr1) mice (PubMed:16675531)
Knockout mice have liver copper levels increased by around 30%, with no differences in iron contents. Mutants are resistant to TCDD and high-fat diet-induced hepatic triglyceride accumlation and after 3 of high-fat diet feeding, body weight changes, liver mass and epididymal fat mass are reduced compared to wild-type mice
Mutant mice are born at the expected Mendelian ratio and appear healthy and viable. No alteration in thymic T-cell populations, T-cell proliferation, or peripheral lymphocyte development. Inefficient type-2 antiparasitic immune response to the intestinal nematode Trichinella spiralis due to impaired IL4 and IL13 cytokine production by Th2 cells
Bushy plants with small leaves, short roots and short inflorescences containing a higher number of stems. Alteration in pollen grain development, high number of aborted siliques and few siliques with low number of seeds
Increased stomata number at elevated CO(2) concentration and increased number of epidermal cells
B-cell and T-cell development is unaffected, and germinal centers form normally. Class-switch recombination in B-cells is not affected. B-cells in older mice (3 months onwards) show significantly increased somatic hypermutation near the immunoglobulin heavy chain locus, mainly at G:C base pairs. Other loci also show increased rates of somatic hypermutation
Cells lacking this gene do not lose the ability to grow on 2SC as the sulfur source because of the presence of other deacetylases that can compensate for scmP (yxeP) deficiency. In a triple mutant lacking this gene, ytnL and yhaA, the levels of NAC highly increases after addition of 2SC
Embryonic lethality due to arrest of embryogenesis at the preglobular stage when homozygous
Semi-lethal in homozygotes and heterozygotes with adult escapers showing abdominal planar cell polarity defects and also extensive wing planar cell polarity defects, both proximally and in a distal region between the third and fourth longitudinal veins. Greatly reduced accumulation of dachs at the apical cell cortex
RNAi-mediated knockdown at the L1 larval stage causes a reduction in egg-laying, likely due to a defect in the egg-laying apparatus muscles and in hermaphrodite specific neurons
Homozygous embryonic lethal; early to mid embryonic stages (PubMed:18066067). Embryos display a range of somatic body wall muscle defects (PubMed:22396663). Embryos show morphological defects in the heart, such as abnormal spacing between rows of aortic cells and abnormal patterning of the aortic outflow tract (PubMed:32950464)
Completely abolishes trichosetin production (PubMed:28379186)
Mice display iron deficiency anemia, due to a defect in iron release through the transferrin cycle
Strains with a pezT/SP_1052/SP_1053 disruption have partially attenuated virulence, they take longer to develop a terminal infection in mice, although they grow normally in liquid culture. A double SP_1052/SP_1053 disruption grows almost as well as wild-type, showing the effect is mostly due to disruption of pezT
RNAi-mediated knockdown inhibits induction of expression of the endoplasmic reticulum chaperone BiP homolog hsp-4 and heat shock protein hsp-3 during the unfolded protein response (UPR) (PubMed:11780124, PubMed:11779465). Larval development is normal, but in a pek-1 genetic background, causes arrested development at or prior to the L2 larval stage (PubMed:11779465). Abolishes crt-1 promoter activity (PubMed:24933177). Reduces lifespan, perhaps acting independently of macroautophagy (PubMed:31303493). In combination with RNAi-mediated knockdown of atf-6, causes lethality early in larval development (PubMed:16184190). Intestine-specific RNAi-mediated knockdown prevents up-regulation of several lysosomal transcripts (PubMed:31303493)
At 10-13 dpc, embryos show a range of phenotypes, such as malformed hindbrain, exencephaly, brain hemorrhage, dilated pericardial sac and lethality. For an unclear reason, some homozygous mutants develop normally, suggesting presence of extragenic phenotypic modifiers
Reduced expression of the extracytoplasmic function sigma factor genes csfT and csfU (5-fold in mutant in comparison to wild-type). Decreased virulence (30-fold less virulent than the wild-type)
Bacteria no longer adhere to fibronectin or collagen, decreased biofilm formation. Bacteria no longer inhibit binding of other bacteria to fibronectin
Small stunted leaves and early flowering under short days conditions
Elevated PR-1 expression level and enhanced resistance to Hyaloperonospora parasitica
Decreases the expression of ver1, pksA and vbsA, and subsequent production of dothistromin, but does not affect the resistance to the toxin (PubMed:22069539)
Abnormal presence of stemmadenine, but normal accumulation of catharanthine and vindoline
Exhibits reduced salt tolerance. Reduced shoot growth in response to salt stress
Enhanced sensitivity to genotoxic stress such as UV light, methyl methanesulfonate (MMS) and mitomycin C (MMC), and hyperrecombination (HR) during cell division
Displays reduced seed germination, growth rate, stamen number, genetic transmission through the male gamete, hormone-induced cell division and increased oxidative stress tolerance. Is also more sensitive to abscisic acid (ABA), salt, sucrose stress, heat shock and DNA-damaging agents and shows a decreased sensitivity to cytokinin and auxin. In flowers, epidermal cells in petals were larger than those in the wild type
Mutant females are substantially more susceptible to (and less able to clear) an ascending infection in the reproductive tract than wild-type animals
Disruption of the gene results in increased tolerance to arsenite but not arsenate. Does not affect sensitivity to antimonate [Sb(V)]
No visible phenotype under normal growth conditions, but mutant plants have enhanced susceptibility to infection by the necrotrophic pathogen Botrytis cinerea
Single mutant has no effect on cell growth or morphology under normal growth conditions. Triple disruption of tagTUV genes is not viable (PubMed:21964069). Cells lacking this gene display a considerably increased transcription frequency of lytR and lytABC operon expression (PubMed:1357079)
No obvious developmental defects under normal growth conditions. Compromised in resistance to both virulent and avirulent Pseudomonas syringae strains. Reduced sensitivity to abscisic acid (ABA) during germination and reduced drought tolerance of seedlings. Simultaneous knockdown of MKK1 and MKK2 results in dwarf and small plants exhibiting a seedling-lethality phenotype
Mutants show larval lethality around 9 days post fertilization and defects in autophagy. They also have lipoprotein accumulation in the intestine and liver
Cells lacking this gene are unable to utilize rhamnose as a source of carbon
Enlarged floral organs (e.g. petals and sepals) and thick stems mainly due to altered numbers of normally sized cells. Enhanced da1-1 phenotype leading to increased seed and organ size
Early flowering and increased sensitivity to inhibition of seed germination and plant growth by exogenous ABA
No visible phenotype. Myob1, myob2 and myob3 triple mutant has a significant height reduction and a delayed flowering. Myob1, myob2, myob3 and myob4 quadruple mutant has a significant height reduction, a reduced rosette diameter and a delayed flowering
Morphants have reduced head and eyes, a curled body, tooth cartilage that is bent downwards, reduced Meckel cartilage, absence of the fourth ceratobranchial cartilage, shortened or absent palate cartilage, widened palatal skeleton, reduced cleithrum, notochord, and lack of bone mineralization
Strong reduction in anthocyanin accumulation
Insertion mutant cannot grow with SDS as a sole carbon and/or sulfur source (PubMed:16684886). Disruption of the gene leads to a decrease in the growth in mucin minimal medium and a reduction in the degradation of both carbohydrate and protein moieties in mucin (PubMed:31907968). Mutant shows reduced swimming, swarming and twitching motilities and decreased mucin gel penetration ability (PubMed:31907968). Virulence of the mutant is attenuated in leukopenic mice compared with the wild-type strain (PubMed:31907968)
Normal asexual development in host erythrocytes, normal ookinete and oocyte development in the mosquito vector, normal number of oocyte and salivary gland sporozoites (PubMed:20951971). Normal transmission into the mouse host (PubMed:20951971)
Completely abolishes the verticillin production
RNAi-mediated knockdown causes a resistance to nicotine-mediated paralysis
When both genes are deleted no 3'cADPR is detected in infiltrated A.thaliana, bacteria grow a bit less well in planta, when the genes are deleted individually reduced amounts of 3'cADPR are seen (PubMed:34657283). When both genes are deleted pattern-triggered immunity is slower in infiltrated A.thaliana (PubMed:36048923)
Deficient mice are viable and fertile without displaying overt effects in tissues known to express BMP6, suggesting a functional redundancy among the factors of this subgroup (PubMed:9664685). However, these mice show a significant increased liver iron content (PubMed:19252486, PubMed:32464486)
Cells lacking this gene do not grow on methylmercaptopropionate (MMPA) as the sole source of carbon
Increased sensitivity toward oxidative stress (e.g. hydrogen peroxide H(2)O(2)), high light and cadmium ions Cd(2+). Higher superoxide dismutase activities in chloroplast and disturbed expression of genes involved in the antioxidant pathway (PubMed:18390807). Pale green plants. The pale green double mutant atsia1 atosa1 accumulates ferritin and superoxides, exhibits an increased nonphotochemical quenching (NPQ), and have a reduced tolerance to reactive oxygen species (ROS) (PubMed:24117441). Lower levels of the highly unsaturated lipid digalactosyldiacylglycerol (DGDG) and of different forms of monogalactosyldiacylglycerol (MGDG) and kaempferol. Higher levels of oxylipin-conjugated DGDG and sinapates. The abc1k7 abc1k8 double mutant accumulates strong levels of oxylipin-conjugated MGDG and DGDG (PubMed:25809944)
Knockout mice are deficient to adapt heart rate to physiological stress, this deficiency develops in older mice. They show severe sinus node dysfunction with long pauses and intercurrent periods of normal synus rhythm. The sinus node structure is abnormal with a loss of pacemaker tissue from the inferior part of the sinus node and a compact structure of the superior sinus node
Defective extension of body wall muscle connections or arms towards the ventral nerve cord (PubMed:27123983). Double knockout with madd-3 results in severe muscle arm extension defects (PubMed:27123983). RNAi-mediated knockdown causes an accumulation in the proximal gonad of endomitotic mature oocytes in 22 percent of animals (PubMed:17326220)
No visible phenotype; mice develop normally and live to old age. E2f7 and E2f8 double knockout embryos die by 11.5 dpc of massive apoptosis and dilation of blood vessels and show increased expression of E2f1 and p53/Tp53, as well as many stress-related genes
Mice are viable but show male sterility due to defects in spermatogenesis. Retrotransposons are derepressed due to DNA demethylation. Defects are caused by impaired piRNA biogenesis
Impaired pyroptosis in response to bacterial infection with E.piscicida (PubMed:30076291). Morpholino knockdown results in no observed phenotype (PubMed:30076291). Morpholino knockdown results in impaired gut bacterial clearance following bacterial infection with E.piscicida (PubMed:30076291). Morpholino knockdown results in pericardial edema, erosion of the tail fin and body axis, and impaired up-regulation of il1b, tnfa, il6, il8, il10 and ifng1 cytokines in response to bacterial lipopolysaccharides (LPS) (PubMed:30076291)
A double clpP1-clpP2 deletion increases the stability of ECF sigma factor SigR prime from 10 to 23 minutes
Enhanced susceptibility to B.cinerea and permissive fungal growth
Reduced induction of chitin-responsive genes and diminished chitin-induced cytosolic calcium elevation, accompanied by an enhanced susceptibility to both the bacterial pathogen Pseudomonas syringae pv. tomato DC3000 and the fungal pathogen Alternaria brassicicola
Abrogated induction of DHU1 in response to UV-B (PubMed:28735869). The double mutant shw1 cop1 displays an enhanced photomorphogenic growth in the darkness as well as abnormal accumulation of HY5 (PubMed:26474641). The double mutant dhu1-1 cop1-6 phenotype resemble that of the single mutant cop1-6 (PubMed:28735869)
Reduced plant size and pale-green leaves due to decreased chlorophyll concentration
Mice are born at the expected Mendelian rate and display no obvious phenotype (PubMed:9276712, PubMed:10915655). They have normal urine osmolality under standard conditions, but display reduced urine osmolality after 36 hour water deprivation (PubMed:9276712). Adult mice display incereased brain water content (PubMed:27751903). Mutant mice display a reduced rate of water flux across the blood brain interface (PubMed:30557661). Fluid transport from the brain paravascular space into the surrounding interstitium is abolished. Besides, mice display strongly reduced solute clearance from the brain interstitium (PubMed:22896675). Mice display reduced cerebrospinal fluid influx into the brain, and reduced brain solute transport via the cerebrospinal fluid from the cisterna to the brain parenchyma (PubMed:22896675, PubMed:30561329). The organ of Corti in the inner ear appears morphologically normal, but mice have considerably impaired hearing at an age of 4 to 5 weeks (PubMed:11406631). Mice display unchanged gastric acid secretion (PubMed:10915655)
Knockout mice display altered protective intestinal inflammatory and immune responses but no gross developmental defects
Hydrocephaly: mutant mice exhibit dome-shaped heads of varying severity. Surviving mutant mice display numerous behavioral abnormalities: tremors, and inverted screen testing show 5 of 8 falling off, suggesting impaired motor strength. Impaired sensorimotor gating/attention is suggested by decreased prepulse inhibition, and impaired learning/memory is detected with trace aversive conditioning testing. In testing nociception, decreased paw flinching is observed during both formalin phases, suggesting decreased sensitivity to acute and tonic pain. Histologically, the most obvious changes are hydrocephalus in 4 of 5 and cerebellar dysplasia in all 5. Abnormalities in neuronal migration are evident in other parts of the brain; in the cerebral cortex, there is disorganization of cortical neuron layers, and the dentate gyrus of the hippocampus has a scalloped appearance. The cerebellar dysplasia is characterized by multifocal disorganization of cerebellar cortical neurons, with clusters of external granular neurons being scattered on the surface of the cerebellum and multifocally within the molecular layer of the cerebellum. In some regions, there is incomplete separation of cerebellar folia, and Purkinje cell. neurons were occasionally found in the molecular layer
Mice show impairment in hippocampal-dependent learning and also increase in the number of excitatory synapses and potentiation of basal and evoked synaptic transmission. Mice surviving to adulthood manifest smaller, apparently less mature neurons and smaller whole brain size, with resultant aberrant electrophysiology and behavior. Mice exhibit thrombocytopenia and a defect in B-lymphopoiesis
Deletion of 4 consecutive genes (mamY, mamX, mamZ, ftsZm) leads to cells with an intermediate magnetic response where magnetosomes have short chains of nearly regularly shaped, cubo-octahedral crystals flanked by small particles with poorly defined morphologies
Exhibit skeletal, cardiac and eye phenotypes. Mice have glaucoma and suffer growth retardation as well as craniofacial defects. Skeletons show marked kyphosis, poorly aligned teeth, anomalies in the iliac crest, and a prominent xiphisternum. Mice show loss of adipose tissue as well as cardiac deficiencies, such as dysmorphic ventricular chambers, thin mitral valves and immature and disarrayed trabeculae with frequent apical indentation. Mice show loss of ROS formation
No effect on RPS4-mediated resistance against avrRps4 bacteria, due to the redundancy with EDS1B
Unable to grow with ethanolamine (EA) as sole carbon source. Slightly attenuated in a mouse model of infection (PubMed:7868611). A double eutG-eutH deletion is not impaired for aerobic growth on EA supplemented with cobalamin (vitamin B12) (PubMed:10464203). Cells are unable to grow on EA at low pH (PubMed:15466042). A non-polar deletion mutant does not grow on EA at pH 5.5 or pH 8.5, poorly at pH 6.0 but wild-type at pH 7.0 and pH 8.0, slight decrease in acetaldehyde release on EA plus vitamin B12 (PubMed:16585748). About 25% reduction in survival in mouse macrophage assays. Bacterial growth is not enhanced by exogenous EA in macrophage survival assays. Decreased survival in mouse intraperitoneal infection, no phenotype in mouse colitis infections (PubMed:29531136)
No visible phenotype under normal conditions (PubMed:28138059). Short and abnormally shaped root hairs due to the suppression of cell growth and cell death, and withered seeds, both having a tendency to necrotize and thick cell walls with abnormal structure in phosphate (Pi) deficient conditions or after ethylene treatment (PubMed:28138059, PubMed:28837399). Production of dark brown shrunken seeds unable to germinate, especially in low humidity (PubMed:30673938)
Abnormal nuclear numbers and positions. No embryo sac
Strains lacking this gene show poor growth, affected sporulation, complete loss of competence development and overproduce Spx under unperturbed growth. Mutants also overproduce TrxA and show reduced sensitivity to disulfide stress
Impairs growth on solid low-copper and low-iron medium and displays altered morphology in response to copper-depleted conditions
RNAi-mediated knockdown of the protein causes 100% embryonic lethality. Abnormal polar body extrusion with large and unstable polar bodies that often fuse with the oocyte. Failure of contractile ring to transform from a disk to a tube during meiosis. Ventral enclosure defects and failure of neuroblasts to complete cytokinesis. Aberrant microtubule-directed cortical myosin polarization
Strong defects in embryo development
Merodiplod cells have greatly altered thylakoid morphology, and about 40% photosynthetic pigements, photosynthetic electron transport and oxygen evolution
RNAi-mediated knockdown in a sup-17 (n1258) mutant background causes sterility with abnormal oocytes containing endoreduplicated DNA and impaired spermatheca function, and production of 2 anchor cells. RNAi-mediated knockdown in a glp-1 (ar202) constitutively active mutant background restores fertility
Flies display defects in the unfolding and expansion of the wings resulting in a loss of venation and a marked decrease in their size. Lethality is polyphasic with flies dying during early larval development and displaying apparently collapsed tracheal trees
Knockout mice are born at expected Mendelian ratios and manifest no apparent physical abnormalities. Mutants have testes that produce fewer mature sperms, an altered percentage of CD4(+) T-cells and natural killer (NK) cells as well as increased splenocyte apoptosis after T cell activation
Causes mitochondria to cluster within cells
CFI-deficient mice are viable and fertile under specific pathogen-free conditions. In the absence of factor I/CFI, physiological cleavage of the alpha-chain of C3b is prevented, and reduced plasma C3, factor B, and factor H levels are observed
Mice die within 30 minutes after birth but do not display obvious developmental or biochemical abnormalities. They show a strong reduction in the frequency of amperometrically detectable release events of transmitter-filled vesicles, while the total number of fusing vesicles, as judged by capacitance recordings or total internal reflection microscopy, remains unchanged
Decreased expression genes in LEE and of neighboring gene dlsT. Decreased secretion of a number of substrates for type III secretion system (TTSS) encoded in the locus of effacement (LEE) including Tir, EspA and EspD; at least EspD is also decreased intracellularly. Expression of 103 genes is altered; down-regulation of LEE PAI (including the TTSS) plus other genes as well as up-regulation of 29 genes. Decreased ability to form attachment/effacing lesions on HeLa cells; those which form attachments condense host actin less well (pedestal formation) (PubMed:26727373)
Semilethal phenotype: females survive, while males die. Most male flies die between the late second instar larval stage and early pupal stage. Mutant males that survive to produce pupal cases initiate morphogenesis but die before head eversion. Almost all male flies that survive past head eversion do complete morphogenesis, and then eclose as 'escaper' males. Escapers display a range of phenotypes that mirror the disease pathology observed in pcd mice, including retinal degeneration
Death at embryonic stages. Heterozygous mice show no visible phenotype, but have higher than normal tissue and plasma levels of asymmetric dimethylarginine (ADMA). They have increased mean arterial blood pressure and systemic vascular resistance, and decreased cardiac output and heart rate, probably due to reduced levels of nitric oxide (NO)
No visible phenotype under normal growth conditions, but mutant plants show increased tolerance to paraquat
Serina et al. reported that the transposon insertion mutant is unable to grow in rich medium at optimal temperature (37 degrees Celsius), whereas it can grow in minimal medium at 37 degrees Celsius and in LD broth at 15 degrees Celsius (PubMed:15380559). In contrast, other studies showed that the gene is not essential for growth in Luria broth (LB) medium at 37 degrees Celsius (PubMed:16738554, PubMed:29463657)
Knock-down leads to topographic missorting in the optic tract through the up-regulation of NRP1
Mice lacking both Fnip1 and Fnip2 show enlarged polycystic kidneys
Removal of iron from coprogen, ferrichrome and ferrioxamine B is significantly lower in mutants compared to the corresponding parental strains
Pupal lethal. Mutant embryos and larvae show ectopic tracheal branching
Displays only the t(6)A but not the ct(6)A modification in tRNAs. Unable to sustain respiratory growth under non-fermenting conditions
Delayed pollen development with reduced nuclei content leading to reduced pollen germination capacity, and pale seeds with arrested embryo development at the globular stage in homozygous plants (PubMed:23382868). In heterozygous plants, strong accumulation of the 23S-like precursor P-A3, and moderate increased levels of 35S/33S precursors and 20S pre-rRNAs (PubMed:23382868). Alterated leaf morphology and inhibited inflorescence elongation leading to a loss of reproduction, seeds abortion and slightly reduced siliques size (PubMed:23382868)
Enhanced sensitivity to heat and oxidative stress with reduced survival under both conditions (PubMed:26791749, PubMed:29036198). Following exposure to gamma irradiation, no effect on DNA damage response in the germline but significantly reduced embryonic survival (PubMed:26791749). Significantly reduced lifespan with a more rapid decline in body movement and pharyngeal pumping, indicative of accelerated aging (PubMed:26791749, PubMed:29036198). Premature accumulation of polyglutamine aggregates and increased polyglutamine-associated paralysis at day 8 of adulthood (PubMed:29036198). RNAi-mediated knockdown results in small and underdeveloped germlines with a reduction in the number of cells in G2/M stages (PubMed:23904186). RNAi-mediated knockdown from the L1 larval stage onwards results in shortened lifespan while RNAi-mediated knockdown initiated at the L4 larval stage decreases lifespan to a smaller but significant extent (PubMed:29036198, PubMed:36173858). RNAi-mediated knockdown in the intestine, hypodermis or neurons reduces lifespan while RNAi-mediated knockdown in muscle cells does not (PubMed:29036198)
Transcription elongation and RNA splicing defects, as well as aberrant anterior (brain) morphologies
Disruption mutant contains no phosphatidylethanolamine and accumulates phosphatidylserine, but it grows well without supplementation of divalent cations
Causes severe growth phenotype and leads to reduced biogenesis of mitochondrial proteins and abnormal mitochondrial morphology (PubMed:22467864). Compromises import of multispan mitochondrial outer membrane (MOM) proteins (PubMed:22467864)
Leads to increased iron uptake (PubMed:9988696). leads to partial derepression of triacetylfusarinine C (TAFC) and fusigen production as well as to cellular accumulation of ferricrocin (FC) (PubMed:11555288). Leads also to increased oxidative stress (PubMed:11555288)
Deletion mutant results in changes in swimming, swarming and/or twitching motility associated with virulence in specific hosts
Conditional knockout mutant of the infectious bloodstream form (BSF) of T.brucei has rapid discontinuance of growth and death by cell lysis after 48 to 72 hours under nonpermissive (without tetracycline) conditions, but grow similarly to wild-type under permissive (with tetracycline) conditions. However, commonly in trypanosomatids, conditional knockout mutants become tetracycline-independent after 10 days resuming growth, indicating the essentiality of this gene and demonstrating that there are no other routes to UDP-N-acetyl-glucosamine (UDP-GlcNAc) than via formation of N-acetyl-glucosamine 6-phosphate (GlcNAc-6P). Dramatically reduced UDP-GlcNAc levels, slightly increased UDP-glucose and UDP-galactose levels, and significantly reduced poly-N-acetyllactosamine structures under nonpermissive conditions. The glycosylation profile of the principal surface coat component, the variant surface glycoprotein (VSG), is modified under nonpermissive conditions. VSG lacks the higher-molecular-mass glycoforms and the oligomannose structures from the C-terminal N-glycosylation site
Late flowering under long days
Embryonic lethality. Impaired development of male and female gametophytes
Cells lacking this gene leads to ETH hypersentivity
Slightly reduced magnetic response, produces chains of wild-type magnetite crystals sandwiched between irregularly shaped, small flake-like crystals. Small crystals are in magnetosomes, but some have multiple nucleation sites. Phenotype is exacerbated when grown in NH(4)(+) instead of NO(3)(-) medium. Deletion of the periplasmic nitrate reductase operon also exacerbates the phenotype. Deletion mutants probably make some hematite crystals as well as wild-type magnetite crystals (PubMed:23889511). Loss of magnetic response, considerable decrease in intracellular iron. Magnetosomes are normally organized but the crystals are irregular, smaller superparamagnetic magnetite particles. Increased expression of the downstream genes in the operon (mamZ and ftsZ-like) (PubMed:24020498). Deletion of 4 consecutive genes (mamY, mamX, mamZ, ftsZm) leads to cells with an intermediate magnetic response where magnetosomes have short chains of nearly regularly shaped, cubo-octahedral crystals flanked by small particles with poorly defined morphologies (PubMed:22043287)
No visible phenotype. Mice are born at the expected Mendelian rate and are fertile. Mutant mice display altered responses to nerve crush injury, with higher numbers of macrophages in injured nerves five days after nerve crush injury, but at later time points macrophage numbers in injured nerves are normal. Bone marrow-derived macrophages from mutant mice display increased migration in response to CCL3, but not in the absence of CCL3 (PubMed:22729949). Mutant mice show dramatically increased survival in response to a dose of lipopolysaccharide (LPS) that causes rapid death of 40% of wild-type mice (PubMed:22160695)
Mutant mice exhibit perinatal mortality, typically dying on the last prenatal or first postnatal day. All tissues tested exhibit nuclear membrane abnormalities with membranous vesicle-appearing structures observed in the perinuclear space of neurons
Mutant mice are born at the expected Mendelian rate and are fertile, but exhibit occasional seizures and have a median lifespan of 255 days, which is much shorter than the 400 days typically observed for heterozygotes (PubMed:11825900). The reduction in lifespan depends strongly on the genetic background; median survival is 138 days for B6 mice, 255 days for B6/129 mice and over 400 days for 129/SvEv mice (PubMed:15720404). Mice exhibit whole body tremors after swimming in cold water, which is not observed in wild-type (PubMed:11825900). The whole body tremors observed after swimming in cold water differ between mouse strains; the observed differences are largely due to differences in the decrease of the core body temperature (PubMed:15720404). Mice lacking both KCNAB1 and KCNAB2 have a median survival of 114 days instead of the 255 days observed for mice lacking only KCNAB2, but show no aggravation of the whole body tremors observed after swimming in cold water (PubMed:15720404). Mice lacking KCNAB2 show subtle deficits in associative learning and aberrant excitability of neurons from the lateral amygdala (PubMed:21209188)
Reduced plant stature. Spontaneous HR-like cell death (SHL)
At the asexual blood stage, causes an accumulation of vesicles at the Maurer's clefts (PubMed:35930605). Aberrant knob morphology and distribution; knobs are fewer and larger (PubMed:35930605). EMP1 delivery to the Maurer's clefts is normal; however, EMP1 delivery to the host erythrocyte cell surface is abolished (PubMed:35930605)
Death around the time of implantation. Deletion in adults leads to proliferative arrest and bone marrow hypoplasia whereas parenchymal organs composed of nonproliferating cells are unaffected
Morpholino knockdown of the protein results in defects in brain and craniofacial development. Embryos show delays in brain development at 24 hpf and apoptosis in the developing brain and the neural tube at 30 hpf
Strongly diminishes production of asperfuranone (PubMed:19199437)
Aberrant expression of Vgamma2 T-cell receptor in alpha-beta T-cells (PubMed:17218525). Reduced frequency of DN1d cells, a subset of DN1 precursor thymocytes (PubMed:30413363). Decreased number of natural killer receptor-positive lymphoid tissue inducer T-cells (PubMed:23562159). Increased expression of Il17 in Vgamma1.1 and Vgamma2 gamma-delta T-cells (PubMed:23562159). Loss of Lef1 expression in Vgamma1.1 and Vgamma2 gamma-delta T-cells (PubMed:23562159). Loss of Cd27 expression in Il17a expressing gamma-delta T-cells (PubMed:23562159). Double knockout of Sox13 and Tcf7/Tcf1 show a reduced number of DN1d cells (PubMed:30413363)
Deletion of the gene results in decreased expression of genes activated by ComA, and significantly changes the expression of 40 operons
Cells lacking this gene show an orange phenotype and produce norprodigiosin
Abnormal capsular morphology: abnormal fiber distribution, decreases capsular diameter (PubMed:32743128). Decreases extracellular vesicle secretion (PubMed:32743128)
Defective in anther dehiscence and pollen maturation. Delayed flower buds opening
DNA hypermethylation
Null cells have increased numbers of peripheral cells during sexual development. Indistinguishable from the wild-type cells with respect to the cAMP response
Knockout mice appeared to be viable, healthy and fertile, and displayed no obvious phenotypic abnormalities (PubMed:11463829). Showed slightly greater body weights after 16 weeks compared to wild-type mice (PubMed:24961373). Reduced hepatic uptake and intestinal excretion of organic cations (PubMed:11463829). Showed reduced thiamine and thiamine vitamers levels in liver and intestine and higher levels of thiamine and vitamers in plasma compared to wild-type mice (PubMed:24961373). Also showed increased ratio of AMP to ATP, activation of the energy sensor AMP-activated kinase (AMPK) and increased fatty acid oxidation in the liver, which contributes to reduced hepatic triglyceride (TG) levels (PubMed:24961373). Circulating triglyceride levels were not changed (PubMed:24961373)
Loss of maternal and zygotic activity results in a reduction in survival at each developmental stage, with mutants rarely surviving to the adult stage (PubMed:18723885). Adult escapers display held out wings and exhibit wing patterning defects with thickened longitudinal veins, a varied number of anterior crossveins, branched posterior crossvein and folded wing blades (PubMed:18723885). In adults, climbing is impaired and their climbing ability further decreases with age (PubMed:18723885). Males are sterile and females display reduced fecundity (PubMed:18723885). No significant decrease in adult survival, however double mutants with either Ote or bocks do not survive to the adult stage (PubMed:24700158). No effect on nuclear envelope formation (PubMed:18723885). Larval brain size and imaginal disks are normal in double mutants with either Ote or bocks (PubMed:24700158)
Mice display progressive hearing loss caused by hypervulnerability to sound exposure (PubMed:17329413, PubMed:26544938). Cochleas display features of marked oxidative stress and impaired antioxidant defenses, and peroxisomes in hair cells show structural abnormalities after the onset of hearing (PubMed:26544938). Mice with conditional deletion in all sensory hair cells show auditory phenotypes with early-onset profound hearing loss and outer hair cell degeneration (PubMed:28089576, PubMed:28209736). Mice with conditional deletion in outer hair cells show auditory phenotypes with early-onset profound hearing loss (PubMed:28089576). Conditional deletion in adult outer hair cells causes a slowly progressive hearing loss associated with outer hair cells degeneration and delayed loss of inner hair cells (PubMed:28089576)
Prevents formation of fruiting bodies
Mutant mice show impaired spatial and object recognition memory with reduced maintenance of long-term potentiation (LTP) in Schaffer collateral-CA1 pyramidal neuron synapses
Deletion results in an enhanced uptake for ectoine by TeaABC
No visible effect on the emission and internal pools of phenylpropene and benzenoid compounds, but increased accumulation of feruloyl-CoA, p-coumaroyl-CoA and vanillin (PubMed:24985707). Reduced lignin content (PubMed:24985707)
Does not result in significant changes in sencondary metabolites production
Gross morphology is normal. Expression of myelin basic protein (mbp) in the central nervous system at 5 dpf is strongly reduced. Expression of mpb in the peripheral nervous system is normal
Albino or pale green seedlings. Seedling lethality
No visible phenotype under normal growth conditions. Accelerated methyl jasmonate-induced leaf senescence. Enhanced sensitivity to water stress, heat shock, toxin, tunicamycin and pathogens
Rarg and Rarb double null mice exhibit growth retardation 3 weeks after birth. Defects are found in the growth plates with deficiency in cartilage. Growth retardation was noticable in limb sketal elements such as femurs. Early lethality and male sterility due to squamous metaplasia of the seminal vesicles and prostate are also observed. Isoform 2 mutants appear normal. The Rarg and Cyp26b1 double null mutation is able to partially rescue limb skeletal morphology without restoring normal expression of proximo-distal patterning genes
Morpholino knockdown results in convergent extension movement defects during gastrulation and an absence of myod1 expression in the majority of hypaxial muscle precursor cells
Cells lacking this gene show an increased lysogenization frequency
Compact plants with reduced leaf inclination associated with shorter lamina joint length due to smaller adaxial and abaxial sclerenchyma cells (PubMed:29610209). Repressed nitrate induction of phosphate (Pi) starvation-induced (PSI) genes leading to an impaired Pi uptake activity (PubMed:33316467). Lower accumulation of ILI4/BU1 and BC1 in lamina joint cells (PubMed:29610209). Reduced levels of brassinolide (BL) content (PubMed:35640569). Strongly reduced biomass associated with leaf senescence symptoms and lower Pi concentration under Pi starvation in plants lacking both RLI1 and PHR2 (PubMed:35640569). Altered leaf inclination phenotypes of the rli1-1 single mutant are suppressed in the triple mutant spx1 spx2 rli1-1 (PubMed:29610209)
Delayed onset of leaf senescence (about 4 days later). Reduced resistance to both virulent and avirulent pathogens (Pseudomonas syringae pv. tomato and Hyaloperonospora parasitica)
Cells lacking this gene are unable to grow using either propionate or cholesterol as a primary carbon source and the transcript levels of both prpD and prpC are dramatically reduced regardless of carbon source. When the mutant grows on medium containing glucose or acetate as a sole carbon source, there is no significant difference in growth compared to the wild-type
Deletion of the gene has no significant effet. However, a mneP-mneS double mutant is manganese sensitive and accumulates high levels of intracellular manganese
Mutant is sporulation defective and fails to perform premeiotic DNA synthesis
Decreases the level of chitinase activity during the autolytic phase of batch cultures
No reproductive defects in males but females have reduced litter size due to embryo implantation failure, normal ovulation but a longer estrus cycle, reduced levels of serum prolactin at the beginning of lactation, abnormal sexual behavior and show reduced offspring care
The mutant notabilis (not) is abscisic acid (ABA)-deficient (including in response to dehydration) and exhibits a reduced growth and lower ethylene levels (Ref.2). Abnormal development of anther/pollen leading to serious pollen deterioration (PubMed:29632966). Fruit-specific suppression leads to reduced ABA accumulation resulting in an increase in ethylene levels, by increasing the transcription of genes related to the synthesis of ethylene during ripening. Deep red fruits which accumulate higher levels of lycopene and beta-carotene probably due to the metabolism of 'backlogged' carbon as a result of disturbed ABA signaling (PubMed:22345638). When disrupted in fruits, altered expression of genes involved in ABA metabolism and signaling and disturbed expression of pectin catabolism family genes are observed (PubMed:22108525, PubMed:25039074). In addition, fruits are smaller, but in a slightly higher number, with a longer shelf life; they are firmer and more flexible during the ripening stages after the mature green stage with considerably fewer seeds, greater viscosity of juices, higher ethylene release and a deep red color (PubMed:22108525). Silenced plants fruits have a slow/suppressed ripening with abnormal orange color and associated with lower ABA levels. In fruits exposed to water deprivation, water loss of the sepal is enhanced (PubMed:25039074)
No visible phenotype. Mice are born at the expected Mendelian ratio and are fertile. Mice lacking both Snx1 and Snx2 die during embryonic development, around 9.5 and 11.5 dpc
Leads to overproduction of curli fimbrae and autoaggregation in cultures grown at 28 degrees Celsius
Mice have increased locomotion, increased motor stereotypical behavior, and impaired motor skill learning. Mutant mice also show facilitated hippocampal-mediated behaviors and decreased anxiety. Chronic blockade of delta opioid receptors and mu opioid, but not other Gi/o coupled receptors, using delta opioid receptor antagonist partially improved motor coordination and normalized spatial navigation and anxiety of mutant mice
RNAi-mediated knockdown causes a decrease in the duration of forward locomotion in the absence of food, and an increase in the frequency of turns
Impairs the production of griseofulvin, but accumulates the intermediates griseophenone D, griseoxanthone C and griseophenone H (PubMed:23978092)
RNAi-mediated knockdown in follicle cells results in the apical localization of the basal membrane (BM) proteins trol and vkg. Results in the apical secretion of vkg, which associates with the apical plasma membrane with an adherent organization. No effect of the localization of proteins involved in intracellular trafficking such as aPKC, dlg and arm
Cells lacking this gene are unable to produce rifamycin B, but production can be restored to wild-type levels by supplementation of the culture with 3-amino-5-hydroxybenzoate (AHBA)
Deletion mutant shows an increased lag time when grown on either L-lysine or 5-aminovalerate (5AVA)
Non-striated muscle cell fate specification defects whereby the number of vulval cells is doubled and the number of uterine cells is reduced due to the transformation of uterine cells into vulval cells
Mice show about 30% fetal lethality at around 11.5 dpc. Approximately 70% of the mutant progeny are born and display severe alterations in tissue architecture in the small intestine. Elf3-deficient enterocytes express markedly reduced levels of TGFBR2
Normal adult development, but progeny arrest at either the L1 stage or during embryogenesis (PubMed:19675126). RNAi-mediated knockdown causes excretory canal truncation, abnormal lumen and cyst formation. In addition, causes a reduced distribution of Golgi and ER components along the excretory canal length and a decrease in cdc-42 activation (PubMed:25743393)
RNAi-mediated knockdown causes enhanced resistance to polyglutamine or amyloid-beta-mediated paralysis and an increase in adult life span (PubMed:19372390). In addition, causes resistance to B.thuringiensis pore-forming toxin CryA21-mediated toxicity (PubMed:20011506)
Reduced H3K27me3 level but increased levels of histone H3 acetylation and H3K4me3 on FLC in the fve msi5 double mutant (PubMed:29314758). Delayed flowering (PubMed:32392578). Impaired systemic acquired resistance (SAR) toward pathogenic bacteria (e.g. Pseudomonas syringae pv tomato DC3000 (avrPto)) (PubMed:32392578). Lost ability of dehydroabietinal-dependent (DA, a diterpenoid tricyclic diterpene) to trigger flowering and systemic acquired resistance (SAR) (PubMed:32392578)
Decreased growth in non-fermentable sugar mediums (PubMed:23940037, PubMed:28076776). This is caused by a decrease in COQ6 levels, which results in a severe decrease in complex II, NADH-coenzyme Q dehydrogenase to complex III, and complex II to complex III activities in the electron transport chain (PubMed:23940037). Impaired antioxidant defenses (PubMed:23940037). Decreased phosphorylation of CAT5/COQ7 (PubMed:23940037). Increased phosphorylation of CIT1 and decreased citrate synthase activity (PubMed:28076776)
Viable and fertile with no gross morphological abnormalities (PubMed:25398945). Knockout mice show severe early-onset retinal defects and progressive photoreceptor cell degeneration (PubMed:25398945). Significant and progressive reduction in response to light, accompanied by progressive thinning of the outer nuclear layer from P15 to 7 months, loss of Spata7-interacting proteins at the distal CC, and destabilization of the photoreceptor distal connecting cilium (CC) microtubule core (PubMed:25398945, PubMed:29899041). Impaired trafficking of photoreceptor proteins between the inner and outer nuclear segments resulting in loss of photoreceptor-specific protein localization at the distal CC (PubMed:25398945). Conditional knockdown of Spata7 in the retina shows an indistinguishable phenotype from knockout mice (PubMed:29100828). Electroretinogram (ERG) recordings show a significant and progressive reduction in response to light under scotopic (dark-adapted) and photopic (light-adapted) conditions (PubMed:29100828). Amplitude of both a-wave and b-wave responses is reduced indicating defects in both rod and cone type photoreceptors (PubMed:29100828)
RNAi-mediated knockdown has little effect on srsx-3 expression in the AWC neuron
Disruption of fbp alone (or ywjI alone) does not affect growth on various carbon sources. But the ywjI fbp double mutant is unable to grow with carbon sources demanding FBPase activity, i.e. glycerol, malate, and a mixture of succinate and glutamate
Cells lacking this gene show a reduced growth rate, do not exhibit a decrease in the efficiency of natural transformation, but are much more sensitive to ionizing radiation than the wild-type strain
Plants display lethal male gametophyte (PubMed:16460514, PubMed:25680231). Impaired stomata formation with arrested guard mother cells (GMC) divisions (PubMed:25680231). Impaired last mitotic division in the male gametophyte, leading to 50 percent of pollen with two gametes (PubMed:25680231). The double mutant flp-1 myb88 displays an enhanced stomatal phenotype with more and larger stomatal clusters. Triple mutants cdka;1 flp-1 myb88 don't have guard cells stacks but accumulates sGCs (PubMed:24687979)
Mice show defective Ras processing and mislocalization of Ras within cells
Dwarf in spk1-1 and spk1-5 (PubMed:22683260). Seedling lethal with trichome, cotyledon, and leaf-shape defects due to a misregulation of laterally clustered foci of microtubules and polarized growth in epidermal cells. Sporophytic sterility. Trichomes show a reduced branch number and an irregular swelling along the stalk and branches (PubMed:11826302, PubMed:18308939). Enlarged endoplasmic reticulum (ER) cisternae and constitutively activated ER stress response (PubMed:21109438). Increased lateral root density and retarded gravitropic responses associated with PIN2 internalization. In spk1-4, enhanced cell shape changes induced by ROP6 overexpression, and reduced active ROP6 (GTP-bound) levels (PubMed:22683260)
Abolishes the production of ferriaspergillin and aspergillic acid (PubMed:29674152)
Essential for growth, it cannot be disrupted (PubMed:16980473). PknB depletion in M.tuberculosis results in cell death and aberrant cell morphology, and leads to complete clearance of the pathogen from the host tissues using the murine infection model (PubMed:24706757)
Deficient mice still possess other negative regulators of IL1 activity and adapt to excessive IL1 via shedding of IL1R1
According to PubMed:20080941, most mice die by postnatal day 25 (P25) due to myelination defects. Brains and spinal cords isolated from P14 mice appear to be smaller than those from wild-type mice and to lack white matter. Mutant oligodendrocytes arrest at a late stage of differentiation. Expression of genes expressed specifically in mature myelinating oligodendrocytes is down-regulated. According to PubMed:17064688, embryos are severely retarded in development and die at approximately 7.5 dpc. One possible explanation for the different phenotypes described is that the two null alleles are not identical. In the mutants described by PubMed:20080941, the PGK-neo cassette used for positive selection of embryonic stem (ES) cells has been removed, whereas it remains in the allele described by PubMed:17064688
No visible phenotype under normal growth conditions, but mutant plants have increased sensitivity to salt-induced osmotic stress
Normal arbuscular mycorrhizal (AM) symbiosis with AM fungi
Plants have a greatly reduced root length and only a single cell layer between the epidermis and the pericycle. The sgrl-1 mutant has no gravitropic response either in inflorescence stems or in hypocotyls
Mice lacking Ush1c display abnormal brush border morphology along the length of the intestinal tract
Altered fatty acid profiles with a slight increase of 16:1delta7 and 18:1delta9 leaf monounsaturated fatty acids and subtle decrease of 16:3 and 18:3 polyunsaturated fatty acids, chloroplastic galactolipids monogalactosyldiacylglycerol (MGDG) and digalactosyldiacylglycerol (DGDG) being the main lipid types affected (PubMed:22028775). Abnormally large chloroplasts (PubMed:22028775). The double mutant arc6 cjd1 exhibits both phenotypes of single mutants cjd1 and arc6 including altered fatty acid profiles and heterogeneous chloroplasts sizes and shapes, respectively (PubMed:22028775)
No visible phenotype. However males show reduced fertility caused by diminished sperm motility (PubMed:27010853). Deficient mice display a pathological glucose tolerance with impaired insulin secretion but normal peripheral insulin sensitivity (PubMed:23720317). Mutant have normal bone density and their bones are characterized by normal structural parameters (PubMed:20441802, PubMed:22985540)
Lethal chlorotic phenotype when homozygote (PubMed:20215589). Reduced levels of chloroplast proteins, including outer envelope membrane (OEM) proteins. Defective chloroplast biogenesis (PubMed:18193034). Reduced APX3 levels and reduced targeting of APX3 to peroxisomes. Compromised peroxisomal function leading to increased sensitivity to aminotriazole during seed germination and shorter hypocotyls in darkness in the absence of sucrose (PubMed:20215589)
Viable and fertile (PubMed:24487409). Significantly reduced levels of Mfsd1 (PubMed:31661432). Splenomegaly (PubMed:24487409, PubMed:26047317). Reduced size of epididymal fat pads (PubMed:26047317). Enlargement of liver and spontaneous development of liver fibrosis which is not present at birth but develops shortly after and reaches a peak at 4 months of age (PubMed:24487409, PubMed:26047317, PubMed:27141234). The liver phenotype is associated with increased expression of markers for inflammatory responses, apoptosis and oxidative stress (PubMed:24487409, PubMed:27141234). Livers show local foci where hepatocytes are lost and liver sinusoidal endothelial cells are replaced by ordinary capillary endothelium (PubMed:31661432). Reduced liver function (PubMed:27141234). Kupffer cells have increased accumulation of iron and lipofuscin (PubMed:24487409). Decreased blood glucose and serum lipids and increased liver triacylglycerol (PubMed:26047317). Altered liver expression of genes involved in metabolism including decreased expression of Acox1, Angptl4, Fabp1, Slc2a2/Glut2, Ppara, Plin2 and Plin5 and increased expression of Apoc3, Cd36, Fasn, Pdk4, Ppard, Pparg, Scd1 and Scd2 (PubMed:26047317). Increased liver expression of Pecam31/Cd31 and Vwf (PubMed:31661432). Increased glucose and fatty acid uptake in hepatocytes and increased glucose oxidation (PubMed:26047317). Increased de novo lipogenesis in hepatocytes (PubMed:26047317). Increased hepatocyte proliferation and oval cell mobilization up to 6 months of age (PubMed:27141234). Increased frequency of liver tumors after 12 months of age (PubMed:27141234). Anemia, thrombocytopenia, and reduced levels of white blood cells (PubMed:27141234). No effect on composition of muscle fibers but myotubes metabolize glucose faster and have a larger pool of intracellular glycogen while oleic acid uptake, storage and oxidation are significantly reduced (PubMed:26707125). Increased myotube expression of Myh2, Myh4 and Scd1 and decreased expression of Cd36, Myh7, Plin2, Ppara, Ppard, Pparg, Pgc1a and Scd2 (PubMed:26707125)
Leaves with a roundish shape as well as rounder and smaller flowers
Deletion of the gene induces changes of proteins involved in cellular processes depending on iron availability. In iron-rich medium, mutants overproduce a red pigment after entry into the stationary growth phase
Defective alpha-1,3-fucosylation activity and a significantly lower longitudinal length-to-width ratio of the ventral nerve cord (VNC)
Accumulation of anthocyanins and glycosylated forms of dihydroflavonols, and drastic reduction of kaempferol, quercitin and favonol glycosides
Abolishes the production of hydroxyaspergillic acid and leads to a reduction of ferriaspergillin analog containing hydroxyaspergillic acid (PubMed:29674152)
Abolishes lipopolysaccharide (LPS) biosynthesis
Lethal during development, no live-born. At 18.5 dpc, homozygous mutants suffer from omphalocele with a failure in closure of the secondary body wall leading to organs outside of the abdomen. Omphalocele are apparent at 14.5 dpc when the physiological hernia is almost rectified in wild-type embryos
Mutants remain rod shaped, and do not acquire the typical coccoid morphology usually seen during starvation
Non-essential, it can be deleted
50% lethality between embryonic day 16.5 and 3 weeks of age (PubMed:10921895). Surviving mice appear normal and live for around 2 years (PubMed:10921895). Increased production of TNF in macrophages after stimulation with lipopolysaccharides (LPS) (PubMed:10921895). Increased susceptibility to LPS-induced endotoxic shock (PubMed:10921895)
Loss of resistance to bacteriophage lambda infection, loss of plasmid silencing. Decreased levels of crRNA, increased levels of pre-crRNA, prevents pre-crRNA cleavage
Mice are more susceptible to high-fat diet-induced insulin resistance
Worms are XO-lethal, due to inappropriate activating dosage compensation where only 1 X chromosome is present. In contrast xol-1 overexpression is XX-lethal, deactivating the dosage compensation pathway and elevating the expression of X chromosome genes to lethal levels in hermaphrodites
Reduced strongly the production of iso-A82775C and accumulates pestalodiol F
Lacks the chloroplast accumulation response under weak blue light and chloroplast movement in darkness, but shows a normal avoidance response under strong blue light. Non biased distribution of chloroplast actin (Cp-actin) filaments
No visible effect at 37 or 16 degrees Celsius; no change in ribosome profiles. A quadruple disruption of all RNA helicases (cshA, cshB, deaD, yfmL) is not lethal at 37 degrees Celsius, although both 50S and 70S ribosomes are decreased, while growth stops at 16 degrees
Simultaneous disruption of erfK, ybiS, ycfS and ynhG leads to loss of covalent anchoring of the major outer membrane lipoprotein (Lpp, also known as the Braun lipoprotein) to the peptidoglycan. Complementation with erfK restores some of this anchoring
No secretion of EsxB, very little EsxB protein accumulates intracellularly (PubMed:15687187)
Impaired response to zinc deficiency
Mice show alteration in the mechanisms of polycistronic mtRNAs processing in mitochondria, resulting in fewer mature mtRNAs and a reduction in electron transport chain (ETC) components formation
No visible phenotype under normal growth conditions, but mutant seedling are hyper-responsive to auxin in hypocotyl growth inhibition (PubMed:20383645). No visible phenotype under normal growth conditions, but mutant seedling exhibit reduced drought tolerance (PubMed:23547968). No visible phenotype under normal growth conditions, but the double mutants camta1 and camta3 are impaired in freezing tolerance (PubMed:19270186). No visible phenotype under normal growth conditions, but the double mutants camt1 and camt3 exhibit semi-dwarf phenotypes (PubMed:19270186, PubMed:23581962)
RNAi-mediated knockdown results in egg laying defects, abnormal migration of QR neuroblast lineage cells and vulval protrusions due to ectopic induction and defective morphogenesis of vulval precursors cells (PubMed:15750187). RNAi-mediated knockdown results in the absence of the transcription factor, mls-2, in the M lineage (PubMed:18316179)
No effect on stomatal closure
The ganglion cell layer and developing inner plexiform layer in the retina are disorganised at postnatal day 4 (P4). This desorganisation persisted into adulthood in amacrine and ganglions cells. Amacrine and ganglion cell populations show fasciculated dendrites that self-crossed and their cell bodies are randomly distributed or pulled into clumps
Altered male gametophytic development with frequent single-fertilization events leading to reduced seed set due to undeveloped ovules. Increased levels of ARI14 in sperm
SclA and SclB double mutants show arrhythmic cardiac contractions and correspondingly, cardiac cells show irregular action potentials (APs), involving 'double' and occasionally failed APs. Calcium transients in these mutants show higher amplitudes and steeper decay than those in wild type flies
Abolishes the production of aspercryptin (PubMed:26563584)
Normal phenotype during vegetative growth, but sterility at the reproductive stage. No formation of embryo sac in female meiocytes and abnormal chromosomal fragmentation after anaphase I in male meiocytes
A dusA dusB dusC triple mutant exhibits a complete lack of 5,6-dihydrouridine modification in cellular tRNA, whereas each single mutant exhibits a partial reduction, compared to wild type (PubMed:11983710). Cells lacking this gene can introduce D modification at neither 20 or 20a in tRNA (PubMed:22123979)
Under aerobic and anaerobic conditions, the disruption mutant is able to grow utilizing ammonium, L-alanine, L-arginine, L-glutamic acid, glycine, or DL-serine as the sole nitrogen source
No visible phenotype in absence of infection (PubMed:36002575). Macrophages are completely deficient in muramyl dipeptide (MDP) sensing (PubMed:36002575)
Deletion mutant is more sensitive to methylglyoxal than wild-type
Depletion of both phaC and phaE genes leads to complete loss of PHA synthase activity and PHBV production
Late flowering in long days. Very low expression of cold-responsive (COR) genes
Cells have defects in motility, and various developmental defects, notably in aggregation and adhesion
No visible phenotype under normal growth conditions, but plants lacking LPXD2 do not accumulate 2,3-diacylglucosamine-1-phosphate
Not essential, disruption of rpfE alone has no effect on growth or survival in liquid culture, nor in mouse infection models, although colony size is reduced. Alterations in gene expression are seen. All 5 genes in this family can be deleted without affecting growth in culture, however quadruple deletion mutants (rpfA-rpfC-rpfB-rpfE or rpfA-rpfC-rpfD-rpfE) are not able to resuscitate spontaneously in the presence or absence of O(2), and are attenuated in a mouse infection model
Deletion leads to loss of motility due to the absence of flagella as well as swimming defect (PubMed:7591148, PubMed:30877999). In addition, mutant possessing pili adheres poorly to mucins (PubMed:8876537)
No visible phenotype under normal growth conditions, but the double mutant atgk1 and atgk2 is lethal
Albino seedling due to defect in pigmentation, growth arrest shortly after germination, altered leaf development, and seedling lethality
Disruption of the gene does not affect LipY surface localization. Mutant shows moderate attenuation in the zebrafish larva infection model
Cells lacking this gene lose the ability to utilize D-alanine, D-histidine, D-phenylalanine, D-serine, D-threonine, and D-valine as the sole source of nitrogen
Disruption of the gene abolishes nocardicin A production, and the mutant accumulates the biosynthetic intermediate nocardicin C
Fails to form the muscle Z line. At the myotendinous junction, muscles detach with the onset of contractility
Morpholino knockdown of the protein leads to truncated cilia formation and impaired intraflagellar transport processes
Normal expression of MYBS1 and AAMY3 in response to glucose levels. Normal seed germination and seedling growth
Retains 39 percent of the catalytic activity. Double xyl1/xyl2 deletion mutant retains 19 percent of the activity and exhibits a 50 percent reduction in accumulation of total mycelial mass
Deletion of the gene does not affect virulence in mice (PubMed:29382761). Deletion of the gene does not induce any major redox perturbation in M.tuberculosis (PubMed:29382761). Non-essential, can be deleted without causing any adverse effects in vitro (PubMed:25128581). The ndh-ndhA double knockout could not be obtained, suggesting that at least one type II NADH dehydrogenase is required for M.tuberculosis growth (PubMed:29382761)
No effect on growth in culture, or in isolated macrophages; infected guinea pigs have a partially attenuated lung infection
Cells lacking this gene continue to express conjugated bile acid hydrolase activity at 86% of wild-type levels
Loss of the gene confers resistance to both serine and its toxic analog serine hydroxamate (PubMed:32743959). Deletion mutant is still able to transport serine, but the deletion of the three permease-encoding genes aimA (ybeC), ybxG and bcaP results in an unprecedented resistance to serine up to 100 mM (PubMed:32743959)
Lethal at the early larval stage (L1/L2); mitochondria are fragmented and mitochondrial respiration is impaired (PubMed:26214738). RNAi-mediated knockdown is also lethal (PubMed:20869429). RNAi-mediated knockdown in specific tissues such as cardiomyocytes, muscles and larval neurons produces various phenotypes resulting from adherent, dysfunctional mitochondria (PubMed:18799731, PubMed:20869429, PubMed:22396657, PubMed:24192653). Mitochondria display characteristics such as abnormal cristae, fragmentation, elongation, decreased DNA content, increased ROS and depolarization (PubMed:20869429, PubMed:20194754, PubMed:22396657, PubMed:24192653). Mitochondria in larval muscles display increased mitochondrial flux and net velocity in both anterograde and retrograde directions (PubMed:20194754)
Lethal during the first day of pupal development (PubMed:1617730). At the larval stage, results in a 'neurogenic' phenotype in imaginal disks, in which too many cells adopt the sensory organ precursor cell fate (PubMed:1617730). RNAi-mediated knockdown in type II neuroblasts, results in smaller cells (PubMed:1617730)
Deletion of the ywqH-ywqI-ywqJ-ywqK-nfi operon has no visible growth phenotype, however it is out-competed by wild-type cells
Early flowering under both long and short days and pleiotropic alterations in shoot development and auxin signaling. Stunted primary root development in the absence of sucrose. Accumulation of nuclear poly(A)+ RNA and high-molecular weight SUMO conjugates
TRIM27-deficient mice are resistant to TNF-alpha-induced apoptosis
Mice lacking Smpd2 and Smpd3 are completely devoid of neutral SMase activity but do not developed sphingomyelin storage abnormalities
Does not affect the production of xenoacremones A and B but leads to the accumulation of 8
Sensitivity to drugs that affect translation fidelity. Overexpression results in a nonsense suppression phenotype
'Early open anther' phenotype; anther opening in young flower buds that contain immature pollen, resulting in poor pollen quality and impaired pollen release
Developmental phenotypes such as dwarfism, organ defects, short inflorescences and mishaped leaves. Low fertility and reduced responses to hormones
Impairs the dimerization of 2 semi-viriditoxin molecules to yield the final viriditoxin
Delay in sporulation onset, 65% reduction in sporulation efficiency (PubMed:19383680, PubMed:22882210). No effect on KinC activity, a double floT-floA deletion decreases the number of proteins in the DRM, blocks the ability of KinC to stimulate biofilm formation (PubMed:20713508). Single floT deletion has defective motility, loss of NfeD2 localization, no change in FloA localization. Double floA-floT mutants have marked defects in cell morphology, motility, and transformation efficiency (PubMed:22753055). Double floA-floT deletion makes no biofilm, has greatly reduced FtsH, sporulates less than either single mutant (PubMed:22882210). Double dynA-floT deletions are highly elongated, filamentous and have strong defects in cell shape; cells grow very slowly with an extended lag phase (PubMed:23249255). Single mutation has a decrease in membrane fluidity and 35% decrease in protein secretion, a double floT-floA deletion has a stronger decrease in membrane fluidity and the same decrease in protein secretion (PubMed:23651456). Double dynA-floT deletion strains are less motile than single floT deletions (PubMed:26842743). Double floA-floT deletion has reduced oligomerization of KinC (PubMed:26297017). Double floA-floT deletion cells are somewhat elongated, the site of cell wall synthesis is affected, increasing at division septa. The speed of MreB movement around the cell is significantly decreased in rich medium in the floA-floT mutant (PubMed:32662773)
Female-sterility due to abnormal gynoecium and ovule growth and development with highly reduced integuments and collapsed cells in the distal regions of the ovule primordia. Slight reduction in the rate of growth and size of the pistil
Deletion mutant has a non-mucoid phenotype and secretes uronic acids instead of polymerized alginate
Increased susceptibility to ozone and to bacterial disease
Lethal (PubMed:19171893). Unfertilized ovules but normal pollen tube attraction (PubMed:15634699)
Dwarf plants with narrow and small leaves, reduced number of branches in the tassel leaves, fasciated ears and sterile florets
Full embryonic lethality at about 10.5 dpc. At 9.5 dpc, embryos display abnormal yolk sac vasculature and yolk sac anemia. Mutant embryos are also anemic, probably due to defective hematopoiesis in the yolk sac. In contrast, the embryonic vasculature appears grossly normal in most cases, but heart development is abnormal, and nearly all mutant embryos had enlarged ventricles and dilated outflow tracts. Besides, many had abnormal cardiac looping and displayed pericardial effusion. Heterozygous mice have occasionally abnormally convoluted and dilated blood vessels with disorganized smooth muscle cells surrounding them; these blood vessels are very fragile and rupture easily
Decreases virulence
Mutant is able to replicate without any defect during hypoxia, but it is significantly impaired in its ability to resume its growth during the subsequent reaeration phase
Leads to a significant decrease in the titer of the 4 ganoderic acids Mk, T, S and Me
Defects in photosynthesis and reduced growth rate (PubMed:27302341, PubMed:27020959). Pale yellow leaves with reduced PSII activity (PubMed:27302341). Altered Ca(2+) and Mn(2+) partitioning in chloroplasts and reduced Mn(2+) binding to PSII (PubMed:27020959)
No observable phenotype. Does not result in reduced stationary phase or heat shock survival. Approximately 31% of the enzyme activity present
Insertion mutant shows a strong decrease in NADK activity compared to the wild-type (PubMed:22056937, PubMed:27657983). Under photoheterotrophic conditions, mutant shows a greatly reduced growth rate (PubMed:22056937, PubMed:30693583). Under photoautotrophic conditions, the growth curves of the wild-type parent and the mutant do not show any differences, and mutant shows a metabolic pattern similar to that of wild-type (PubMed:27657983). Deficient mutant accumulates glycogen under photoheterotrophic conditions (PubMed:30693583)
Deletion causes increased sensitivity to arsenite
Embryonic lethality when homozygous (PubMed:15266054). Embryo development arrested at globular stage (PubMed:15266054)
RNAi-mediated knockdown predominantly results in embryonic arrest with surviving embryos developing elongation-defective uncoordinated kinky larvae (PubMed:24016757, PubMed:11687661). Defective ventral migration of P cells leading to defective gonad development (PubMed:11687661). Defective establishment of anterior-posterior cell polarity in one-cell embryos (PubMed:16921365). Abolished cortical contractility in early embryos (PubMed:23064028). RNAi-mediated knockdown results in disorganized myosin thick filaments in the body wall muscles of the few surviving adults, which is characterized by the formation of abnormal myosin heavy chain myo-3 aggregates, V-shaped crossing of A-bands and areas in which the myosin heavy chain is missing (PubMed:18801371). RNAi-mediated knockdown suppresses reactive oxygen species induction and longevity in the memo-1 mutant (PubMed:28085666). Double RNAi-mediated knockdown with memo-1 eliminates the resistance to oxidative stress in the memo-1 single mutant (PubMed:28085666)
Deletion mutant is auxotrophic for all three aromatic amino acids (AroAAs) and lacks 3-dehydroquinate dehydratase activity
Knockout males are infertile. Their testes are smaller as compared to wild-type fertile males and exhibit spermatogonial proliferation block
Knockout mutant is more susceptible to acid, heat and hypoxic stress. Mutant has reduced GTP levels
No visible phenotype. Defects in PDGF-induced membrane ruffling due to defects in Ras to Rac signals. Dendritic cells are impaired in directional and chemotactic migration and are delayed in reaching the draining lymph node in vivo after inflammatory challenge. Mice show short stereocilia
Mice produce inviable embryos which are severely retarded in early development and do not undergo normal gastrulation due to massive apoptosis of ectodermal cells around day 7.5
Mice do not respond to persistent pain. Postsynaptic surface expression of NMDA receptors and NMDA receptor-mediated synaptic function are reduced in dorsal horn neurons of the spinal chord
Embryos die at mid-gestation because of anemia and impaired fetal liver erythropoiesis
Morpholino knockdown of the protein causes strong ciliopathy phenotypes, including pronephric cysts, axis curvature, left-right asymmetry defects and hydrocephalus. Cilia length and number appear normal, but outer dynein arms are missing and cilia are paralyzed
Impairs heme import into cell; simultaneous disruption of shu1 exacerbates the effect
Mice die perinatally and exhibit profound degeneration in certain regions of the central and peripheral nervous systems. Selected regions in the brain are affected, especially the medulla, the pons and the midbrain and increased cell death occurs in these areas. Affected neurons contain large vacuoles
No visible phenotype. No changes in the fatty acid content and composition of seeds. Dgat1 and pdat1 double mutants produce sterile deformed pollen
Dwarf phenotype with several auxin-related defects (PubMed:17889650, PubMed:29897620). Reduced primary root length and fewer secondary roots (PubMed:17889650, PubMed:29897620). Abnormal cotyledon shape, number and positioning (PubMed:17889650, PubMed:29897620). Accumulation of storage proteins globulin 12S and albumin 2S in dry seeds (PubMed:16926167)
Abnormal mitophagy during nitrogen starvation
Mutant flies show temperature-sensitive lethality, hypersensitivity to DNA-damaging agents such as ionizing radiation and methyl methanesulfonate, suppression of position-effect variegation and female sterility
No effect on glycolate utilization
Plants are hypersensitive to osmotic stress and abscisic acid (ABA) during germination and early seedling growth
Increased sensitivity to acrylate on plates, decreased ability to degrade acrylate (PubMed:21249136). No effect during photoheterotropic (anaerobic/light) growth on succinate, no growth on 3-hydroxypropionate under the same conditions. Loss of 3-hydroxypropanoate and acrylate-dependent oxidation of NADPH (PubMed:22056933)
A single deletion mutant leads to loss of expression of efflux pump Rv1410c due to polar effects; in infected BALB/c mice 1.5 and 2.5 log decrease in bacterial load 15 and 35 days after infection (PubMed:14998516). The single mutant increases sensitivity to malachite green, sodium dodecyl sulfate (SDS), isoniazid, ethambutal and ethidium bromide, alters the permeability of the cell wall; both genes of the operon are required to fully restore the phenotypes (PubMed:21762531). Single deletion mutant (probably without Rv1410c) has decreased surface-exposed glycolipid lipoarabinomannan (LAM), although cellular LAM, LM and PIM content is normal (PubMed:25232742, PubMed:25356793). Disruption of either Rv1410c or the lrpG-Rv1410c operon leads to increased levels of many triacylglyceride (TAG) alkylforms; up to 100-fold increase depending on the exact TAG form (PubMed:26751071). It also forms smaller colonies on agar (PubMed:25232742). Loss of surface LAM has several consequences; bacteria enter mouse macrophages with reduced efficiency and block mouse macrophage phagosome-lysosome fusion less efficiently than wild-type (PubMed:25232742). Reduced efficiency of mouse macrophage phagosome-lysosome fusion was seen in another study (PubMed:25356793). C57BL/6 mice infected with mutant bacteria have 10-fold less bacterial burden after 10 days and about 2700-fold less burden after 70 days; attenuation of mutant is not rescued in macrophages impaired for reactive oxygen or nitrogen generation (disruption of Ncf1 or iNOS) (PubMed:25232742)
No visible effect (PubMed:21963668). Decreased accumulation of ASK7/BIN2 at the plasma membrane and impaired polarization of ASK7/BIN2 in asymmetric cell division (ACD) precursors thus leading to its nuclear localization in the meristemoids (PubMed:30429609)
Double deletions of lprG-MSMEG_3069/MSMEI_2992 operon are more sensitive to ethidium bromide; restoration of wild-type growth is conferred by the M.tuberculosis operonells display abnormal colony morphology and are defective for sliding motility under cabon-limiting conditions (PubMed:18156250)
Mice are viable and were born at the expected Mendelian ratio (PubMed:32943573). They however display learning and memory defects (PubMed:30401835). Mice develop normally up to four months of age and have normal gross hippocampal histology (PubMed:30401835). They however show learning and memory defects as well as impaired hippocampal synaptic transmission and long-term potentiation (PubMed:30401835). Hippocampal CA1 neurons show reduced dendritic spine density but unaltered spine size (PubMed:30401835). Conditional deletion in spinal commissural neurons results in pre-crossing axon guidance defects (PubMed:30843071). Knockout mice show an improved tumor control associated with increased infiltration of the tumor by T-cells, due to elevated antigen-specific CD8(+) T-cell anti-tumor response (PubMed:30728504). Conditional deletion in myeloid dendritic cells causes increased cross-presentation of tumor antigens and the cross-priming of CD8(+) T-cells (PubMed:30728504). Mice lacking Ythdf1, Ythdf2 and Ythdf3 display early embryonic lethality and show defects in embryonic stem cell differentiation (PubMed:32943573)
Significantly decreases 11'-deoxyverticillin A production
No visible phenotype. No effect on growth
Males are sterile, while female fertility is not affected. Spermatozoa have significantly impaired swimming ability. The sperm head has a rounded shape instead of the normal hook-shaped morphology. The acrosome membrane does not associate normally with the nuclear envelope or intermediate filament bundles, and fails to expand along the nuclear surface. The sperm nucleus remains globular and mitochondria appear disorganized
Defects in hyphal formation
No effect on RPS4-mediated resistance against avrRps4 bacteria, due to the redundancy with EDS1
In 1-cell to 20-cell stage embryos, there is defective autophagosome degradation with an accumulation of endosomes, lgg-1- and lgg-2-positive autophagosomes, amphisomes and paternal mitochondria close to the nuclei (PubMed:25126728, PubMed:24374177). Reduced number of gut granules in the adult intestine (PubMed:24501423). RNAi-mediated knockdown results in a reduced number of gut granules in embryonic intestinal cells (PubMed:24501423). RNAi-mediated knockdown results in the formation of large late endosomes/lysosomes, but with simultaneous expression of rab-5- and rab-7-positive vesicles on the basal side of gut cells (PubMed:25273556)
Most mutants arrest as three-fold embryos that fail to hatch and those that hatch arrest in L1 with many animals appearing uncoordinated and misshapen (PubMed:17336909). 7- to 8-fold increase in blmp-1 levels in seam and hypodermal cells (PubMed:24613396)
Disruption of the metF gene leads to methionine auxotrophy
Mice are viable, but females display severely decreased litter sizes due to primary maternal dystocia (delayed parturition) that is refractory to ecbolic induction agents (PubMed:30626964). Cells show complete loss of actin histidine methylation (PubMed:30626964)
Mice live well and have no impaired fertility. They do however display reduced sperm concentration, rate of forward progression and percentage of live spermatozoa. Pre-ejaculated sperm display increased premature/spontaneous capacitance
Cells lacking this gene are not viable unless a second mutation occurs, either spontaneously or by design, resulting in the inability of glutamine synthetase (GS) to be adenylylated
Blocks the adhesion of conidia to onion or celery epidermis
Cells lacking both derI1 and derI2 are totally unable to grow on D-threitol or on erythritol
Impairs the production of sterigmatocystin and leads to the accumulation of dihydrosterigmatocystin
No obvious developmental defects (PubMed:20011053). Plants missing both SOLF1 and SOLF2 have reduced endogenous cytokinin levels and accumulate lower levels of trans-zeatin riboside monophosphate (tZRMP) and N(6)-(Delta(2)-isopentenyl)adenosine monophosphate (iPRMP), biosynthetic intermediates of bioactive cytokinins as well as decreased response to exogenous cytokinin in both callus-formation and inhibition-of-hypocotyl-elongation assays (PubMed:20011053)
Cells lacking this gene show a 2-3 orders of magnitude drop in survival after exposure to ionizing radiation as compared to a wild-type strain
The pp2c-d1 pp2c-d2 double mutant displays a long hypocotyl phenotype and strongly reduced apical hook maintenance in etiolated seedlings (PubMed:24858935). Plants missing PP2C42/PP2C-D2, PP2C64/PP2C-D5, PP2C79/PP2C-D7, PP2C63/PP2C-D8 and PP2C68/PP2C-D9 exhibit an increased hypocotyl length, as well as an enhanced sensitivity to LiCl and media acidification (PubMed:24858935)
Mutants show a lower rate of biofilm formation on solid paraffin and on the liquid alkane n-hexadecane, while growth on nonalkane substrates was not affected. Planktonic growth on water-soluble substrates is not affected. Mutants are impaired in the assimilation of n-hexadecane solubilized in surfactant micelles
Mice are viable and fertile. Deficient mice shown reduced T-cell activation and expansion in the presence of the serine/threonine protein kinase mTOR inhibitor rapamycin. Triple knockout mice PIM1/PIM2/PIM3 shown a profound reduction in body size at birth and throughout postnatal life due to a reduction in the number of cells rather than cell size
Results in reduced resistance to oxidative stress (PubMed:26715182). Simultaneous knockout of Urm1 restores normal sensitivity to oxidative stress (PubMed:26715182)
Death between 8 and 10 dpf due to multiple defects in organogenesis. Thymus primordium fails to accumulate lymphoid cells. The head, the eyes, the liver and the gall bladder are smaller. Pharyngeal arches are abnormally shaped and lower jaws are malformed. In contrast, hematopoiesis and development of the gills and the gut, as well as body axis formation, are not disturbed at 7 dpf
No visible phenotype in normal conditions. Mice are resistant in experimental autoimmune encephalomyelitis (EAE) model, a T-cell-mediated autoimmune model. The expression of pro-inflammatory mediators is severely reduced in EAE. No dysfunction of T-cells, or other leukocytes is detected
Abolishes the production of terreic acid, but accumulates 6-methylsalicylic acid (PubMed:25265334)
No visible phenotype under normal growth conditions (PubMed:16880402). Enhanced sensitivity to inhibition of seedling growth induced by exogenous N-acylethanolamine
Impairs the production of ustiloxin B but accumulates intermediates such as ustiloxin F and C (PubMed:24841822, PubMed:27166860, PubMed:26703898)
Delayed flowering (PubMed:21265895, PubMed:25929516). Roots of the triple mutant jkd mgp nuc contain patches of undivided ground tissue (GT), indicating that cortex and endodermis layers are not fully separated. The quadruple mutant line jkd mgp nuc scr has short root meristems, lacks endodermis and miss Casparian strip (PubMed:25829440)
Essential; a single hipB deletion cannot be made, probably due to toxicity of HipA
Pleiotropic effects on plant growth and development, including dwarf size, aberrant root development and sterile flowers (PubMed:20937886, PubMed:21037105). Decreased levels of CCA1 and LHY circadian oscillators transcription factors as well as of other clock genes such as TOC1, PRR5, PRR7, PRR9, GI, ELF3, ELF4, and LUX associated with reduced H3K4me3 levels near their promoters (PubMed:31429787)
Disruption mutant grows more slowly than the wild type strain on methylthioribose (MTR) as the sulfur source
More permissive hosts than wild-type cells for intracellular growth of L.pneumophila and M.avium
Small white seeds, with defective choloroplasts, that are unable to germinate on soil. Albino seedlings that die rapidly when grown on synthetic medium
Reduction in rate of basal sighing without affecting the respiratory rate (PubMed:26855425). Significantly reduced sneezing responses to chemical and allergen stimuli (PubMed:34133943)
Mice are viable, have normal glucose and insulin levels, and normal insulin and glucose tolerance. They are however highly resistant to weight gain when placed on a high-fat diet, suggesting that inhibition of Inppl1 would be useful in the effort to ameliorate diet-induced obesity. According to preliminary results from PubMed:11343120, mice display increased sensitivity to insulin, characterized by severe neonatal hypoglycemia, deregulated expression of the genes involved in gluconeogenesis, and perinatal death. They display increased glucose tolerance and insulin sensitivity associated with an increased recruitment of the Slc2a4/Glut4 glucose transporter and increased glycogen synthesis in skeletal muscles. However, these knockout mice also contain a deletion of the last exon of Phox2a gene. It is therefore unknown whether the insulin sensitivity observed in these mice result from inactivation of either Inppl1 or Phox2a
Loss of T2S and SL-1 formation, but phthiocerol dimycocerosate (PDIM) biosynthesis remains intact. Cells lacking this gene exhibit augmented survival in human but not murine macrophages, suggesting that SL-1 negatively regulates the intracellular growth of M.tuberculosis in a species-specific manner. Moreover, the mutant strains exhibit increased resistance in vitro to a human cationic antimicrobial peptide, LL-37, while they do not show global defects in overall cell envelope integrity
Impairs the production of detectable pyridovericin-N-O-(4-O-methyl-beta-D-glucopyranoside) (PMGP)
Smaller rosettes, collapsed or tangled trichomes, postgenital fusions between the rosette leaves and flower buds, fusions between sepals, altered cuticle permeability, loss of cuticular folding in petals, abnormal flower and silique development, altered seeds surface, defective mucilage extrusion and semisterility. Increased susceptibility to salinity, osmotic and water deprivation stresses
Mice develop normally but display defects in B-cell development independent of mTOR activity (PubMed:22709692, PubMed:27303042). B-cell development defects result from rapid caspase-induced pre-B cell death (PubMed:22709692). Heterozygous mice show caused a loss of marginal zone B-cells (PubMed:27303042). Mice also develop cardiomyopathy characterized by left ventricular hypertrophy and elevated AMPK activity (PubMed:25775561, PubMed:27303042). Mice do not show strong susceptibility to kidney neoplasia (PubMed:22709692, PubMed:25775561). They however display slightly enlarged kidney size and slightly increased renal cyst formation, characterized by decreased AMPK activation, increased mTOR activation and metabolic hyperactivation (PubMed:29897930). Mice lacking both Fnip1 and Fnip2 show enlarged polycystic kidneys (PubMed:25775561)
Strong circadian locomotor phenotype with most mutants being arrhythmic after 4 days in constant darkness and displaying a long period in both light/dark and constant dark conditions (PubMed:17578907). Delayed evening activity peak in light/dark conditions and robust 26.5 hour rhythms for at least 10 days in constant darkness (PubMed:18375860). Reduced circadian oscillation of Clk target genes per, tim, vri and Pdp1 (PubMed:17578907, PubMed:18375860). RNAi-mediated knockdown results in a lengthened circadian period (PubMed:17555964, PubMed:17578908)
Cells show pleiotropic defects. Cell size, growth rate, phagocytosis and macropinocytosis are affected. During development, cells show an enhanced tendency to remain at the slug stage, and spore viability are compromised
Mutants in this gene exhibit several, largely neuronal defects including lesions affecting the neuronal connectivity of the giant fiber with the 'jumping muscle', and the axons of photoreceptor cells R7 and R8 fail to make the proper right-angle turn into the medulla (hence the term 'bendless')
Viable with a reduced number of gut granules in the adult intestine (PubMed:15843430, PubMed:24501423). Embryos of these adults arrest in early development and lack gut granules (PubMed:15843430). Endosome/lysosome fusion defects in coelomocytes (PubMed:26783301). RNAi-mediated knockdown results in a reduced number of gut granules in embryonic intestinal cells (PubMed:24501423). RNAi-mediated knockdown results in defective endosome maturation with the accumulation of small vesicles near the gut lumen and large endosomes/lysosomes on the basal side of the cell (PubMed:25273556)
Doubling time increases for growth under nonstress conditions, unable to initiate growth at pH 5.0 and under 3.5% NaCl salt stress. Double deletions of Ffh and FtsY, Ffh and scRNA, or Ffh and YidC2 are barely able to grow in the absence of stress
Disruption mutant loses the ability to grow on 3-aminobenzoate or 5ASA
Affects GAS1 and GGP1 O-mannosylation
Abolishes the production of terreic acid, but accumulates (2Z,4E)-2-methyl-2,4-hexadienedioic acid, a degradation product of 3-methylcatechol (PubMed:25265334)
Completely abolishes the production of novofumigatonin and asnovolin A
Chemical composition modifications and structural alterations of the cuticular layer of the cell wall leading to increased permeability of the cuticle, increased sensitivity to herbicide (glufosidate), increased cuticular transpiration and increased resistance to Botrytis cinerea
Cells lacking this gene are unable to grow on nucleosides as purine source
Mice show impaired mammary tumor growth. Tumors from mice lacking Mrc2 display an abrogation of cellular collagen uptake, a fibrotic state characterized by the accumulation of both basement membrane and interstitial collagens, and an overall tumor size reduction, despite the collagen accumulation. Fibroblasts from mice lacking Mrc2 display a severe impairment of internalization of collagen IV and V and thus, exhibit a general deficiency in uptake and delivery of collagens to vesicular compartments. Fibroblasts also have diminished initial adhesion to collagen as well as impaired migration on fibrillar collagen. Mice with a targeted deletion of Mrc2 exon 2-6 are phenotypically normal, healthy and fertile. This deletion resulted in expression of a protein that lacks the ricin B-type lectin domain, the fibronectin type-II domain and the first C-type lectin domain. Fibroblasts from these mice display C-type lectin activity, but have a defect in collagen-binding and internalization, and an impaired migratory phenotype
Lethality: homozygous embryos do not develop beyond the eight cell stage. Heterozygous mice are healthy and fertile but frequently develop tumors, most frequently lung-invading and liver-invading lymphomas. Analysis of chromosome spreads of spleen-derived cells from 6-month-old mice show aneuploidy
Mutant fails to form Balbiani body, and vegetal mRNAs are not localized in oocytes
Impairs the production of N-pyruvoylanthranilamide ans downstream compounds (PubMed:29196288)
No visible phenotype under normal growth conditions. The double mutant plants rgtb1 and rgtb2 are male sterile, due to shrunken pollen with abnormal exine structure, and strong disorganization of the endoplasmic reticulum membranes
No morphologic changes, but 50% reduction of the sensitivity of retinal ganglion cell light responses
Cells lacking this gene display no ODH and no PDH activities
No visible phenotype under normal growth conditions, but the delayed leaf emergence and leaf morphology defect of the double mutant ect2 and ect3 is enhanced in the triple mutant ect2, ect3 and ect4
No visible phenotype under normal growth conditions (PubMed:20413097). Increased sensitivity to the pathogenic biotrophic bacteria Xanthomonas campestris pv. campestris (Xcc) in vascular tissues (PubMed:26355215)
Worms arrest their development at L1 stage, and show tail abnormalities (PubMed:14732404). RNAi-mediated knockdown on a glp-1 mutant background causes significant overproliferation of germline cells (PubMed:25564623)
Homozygous mutant embryos die in utero between 3.5 and 9.5 dpc (PubMed:10652280). Heterozygous animals are healthy and fertile and do not present any apparent abnormalities. They show slightly elevated tissue light chain ferritin content and 7- to 10-fold more light chain ferritin in the serum than normal mice, but their serum iron remains unchanged
Serrated leaves due to cell cycle inhibition and to a stringent late G2 cell cycle arrest. The leaf blade area is almost normal while the average abaxial pavement cell area increases significantly in the mutant plants, accompanied with a decrease in cell number per leaf. At the bolting stage, younger leaves display a slightly elongated and serrated leaf phenotype. In addition, the root growth rate of the mutant plants is significantly reduced
Disruption causes defects in spermatozoon maturation and impaired fertility in males; females display normal fertility. Males produce litter sizes some 50% smaller, as well 50% of mature spermatozoa have reduced mobility
Flies are male and female sterile; reduction in numbers of primary and secondary spermatocytes
More than 50% of lethality by 6 weeks of age. Mice have infiltrates of inflammatory cells in their lungs, as well as multinodular lesions with eosinophil infiltrations into the spleen, significantly more T(H)2 and T(H)17 cells and up-regulated levels of inflammtaroy chemokines in macrophages, but, express low levels of memory CD8(+) T-cells and, in spleen, GC B and T(FH) cells are both undetectable. B-cells express 10-fold lower levels of surface IgM than control littermates and macrophages divide faster. From 12.5 dpc to at least 21 days after birth, animals have reduced size of the cerebral hemispheres and a reduced thickness of the frontal and parietal cortex with all the cortical layers affected. At 12.5 and 15.5 dpc, marked reduction of cell-cycle exit indicating defective transition from neural progenitor Cells to postmitotic neurons
Enpp6 knockout mice give birth according to the Mendelian rule and are apparently normal. Mice exhibit mild symptoms of fatty liver and are more susceptible to a choline-deficient diet and exhibit severe fatty liver phenotypes at the early stage
No visible phenotype under normal growth conditions (PubMed:32989010). The double mutant nac20 and nac26 exhibit a floury grain phenotype due to decreased starch and storage protein content (PubMed:32989010)
No visible changes in phenotype
Accumulation of unprocessed cytosolic rRNA precursors, especially the large 35S rRNA precursor, as well as of the internal transcribed spacer 1 (ITS1) fragment corresponding to the region between the 18S and 5.8S rRNAs that contains the A3 cleavage sites
Altered morphology of stipules and flowers (PubMed:23136374). Partial loss of nodule identity characterized by the development of ectopic roots arising from nodule vascular meristems (PubMed:23136374). The double mutants noot1 and noot2 exhibit complete loss of nodule identity and develop only non-fixing root-like structures that are no longer able to host symbiotic rhizobia (PubMed:30026291)
Loss of prodigiosin and carbapenem production
Defects in retinal vascularization
Mice have a high rate of early postnatal mortality, although surviving pups have a normal life span despite decreased body weight. Knockout animals have impaired synaptic vesicle recycling, with an increased number of clathrin-coated vesicles, and impaired clathrin-mediated endocytosis of synaptic vesicles in neuronal culture. There is an up-regulation of Gak, but this does not fully compensate for the lack of the protein. The brains from mutant mice do not display alterations in substantia nigra morphology or dopamine transporter abundance or distribution, in agreement with the lack of gait or movement abnormalities in the mutant animals
Essential; cannot be disrupted unless ghoT is also disrupted; in the double ghoS-ghoT mutant has no visible phenotype (PubMed:24373067, PubMed:22941047). Increased biofilm formation after 8 hours at 30 and 37 degrees Celsius, has risen higher by 24 hours at 37 degrees Celsius but has fallen by 24 hours at 30 degrees Celsius. Approximately 2-fold increase in swimming motility (PubMed:24373067). When single ghoT mutant is grown in the presence of antibiotics carbenicillin or cefoxitin initial metabolism is significantly increased over that of wild-type, after 14 hours wild-type is slightly less active. In a double ghoS-ghoT mutant in presence of the 2 antibiotics metabolism is significantly increased over that of wild-type, but by 9 hours wild-type has caught up and eventually has slightly greater metabolic rates (PubMed:24373067)
No visible phenotype under normal growth conditions. Increased sensitivity to thiocyanate in medium and lower methyl halide emissions
Larval lethal with complete lethality by 10 days post-fertilization. Development of multiple organs is affected. Head, eye, lens, pancreas and liver are smaller than normal, and the swim bladder fails to inflate. The intestinal epithelium also remains thin and unfolded. U12-type introns are retained in mRNAs, whereas excision of U2-type introns is not affected. Assembly of both U12- and U11-containing snRNP complexes may be abnormal. Gene expression levels are broadly impacted; effects are not limited to U12-type intron-containing genes
No visible phenotype under normal growth condition. Reduced sensitivity of the inhibition of hypocotyl growth in far-red light. Cul3a and cul3b double mutant is embryonic lethal (PubMed:16045478)
The mobility of cells lacking CFAP206 is decreased. If their number is normal, cilia are slightly longer and display uncoordinated motility with abnormal waveform characterized by decreased bend amplitude and decreased metachronal coordination. Cilia axonemes display a classical 9+2 organization of microtubules but their shape is abnormal
Impairs the recruitment of hex-1 assemblies to the matrix face of the peroxisome membrane, and the subsequent production of Woronin bodies
Defects in corneal development. While eyes contain all anterior and posterior segment components, corneas show developmental abnormalities characterized by decreased cellularity of the apical epithelial layer and disorganized basal and wing cell layers. Defects are due to depletion of quiescent limbal stem cells, leading to enhanced proliferation and apoptosis, and resulting in defective corneal differentiation and wound healing
Mice suffer from fatal anemia, caused by severe bleeding and erythrocytopenia. Mice also show markedly reduced size and cellularity. Platelets cannot activate integrins despite normal Talin (Tln1) expression
Mice show severe pancreatic hypoplasia at birth and ensuing hyperglycemia at postnatal stages and die of heart failure by 11 weeks of age
Simultaneous RNAi-mediated knockdown of both gpa-16 and goa-1 causes, in the one-cell embryo, a lack of nuclear rocking movements from prophase to metaphase and symmetric spindle elongation without transversal oscillations of the poles during anaphase. At the 2-cell stage embryo, nuclei are mispositioned and fail to exhibit nuclear rotation. In addition, causes a loss of gpr-1/2 cortical localization in 2-cell and 4-cell stage embryos
Decreased nitrate reductase activity due to a reduced molybdate uptake. No effect in strain 704 due to the presence of a second molybdate transporter
Impaired nucleolar dominance (PubMed:19061642). Reduced DNA methylation in some of the targets of RNA-directed DNA methylation (RdDM) and loss of DNA methylation in 180 bp centromeric repeats (PubMed:28229965)
RNAi-mediated knockdown results in the accumulation of substances in coelomocytes within the body wall cavity, which may be indicative of lysosomal defects
Disruption results in cells that fail to digest chitin
No visible phenotype. Decreased resistance to B.cinerea and increased cell death upon pathogen infection. Boi, brg1, brg2 and brg3 quadruple mutant shows a higher GA signaling resulting in a higher seed germination in the presence of paclobutrazol, precocious juvenile-to-adult phase transition and early flowering
Mutant mice are born at the expected Mendelian rate, present no obvious phenotype and are fertile (PubMed:18071070, PubMed:20466003, PubMed:23753526, PubMed:24277577). Their hearts display a decrease in left ventricular pressure, both at the basal level and after activation of beta-adrenergic receptors (PubMed:18071070). Besides, their hearts show defects in sarcoplasmic Ca(2+) uptake and storage, and decreased levels of protein phosphorylation (PubMed:18071070). Male mice show increased mortality after transversal aortic constriction (PubMed:20359598). In contrast, female mice do not show increased mortality after transversal aortic constriction, and develop less heart hypertrophy and fibrosis than wild-type (PubMed:20359598). Compared to wild-type, mutant mice drink more and produce greater volumes of urine with decreased osmolarity, but there is no difference in the total quantity of excreted urinary solutes and no difference in blood plasma composition (PubMed:20466003, PubMed:20864687). The impaired urinary water homeostasis is due to retention of AQP2 in intracellular vesicles and decreased AQP2 levels at the cell membrane (PubMed:20466003). Mutant mice display increased urinary inorganic phosphate excretion, but normal plasma phosphate levels (PubMed:24854272). Mutant mice display increased plasma levels of PTH and FGF23, the two principal regulators of urinary phosphate excretion (PubMed:24854272). Mutant mice display no obvious skeleton defects, but display less bone formation after load stress than wild-type (PubMed:24277577). Mutant mice lacking both Adcy6 and Pkd1 survive longer and have less severe polycystic kidney disease than mice lacking only Pkd1 (PubMed:24158982)
Blocks conidiation and causes aberrant hyphal morphology (PubMed:21148688). Decreases expression of developmental regulators brlA and abaA (PubMed:21148688)
No visible phenotype under normal growth conditions, but mutant plants have increased levels of C29 alkane and reduced levels of C31 alkane in the rosette leaf wax
Essential, it cannot be disrupted. Depletion experiments show only slightly retarded growth with an increase in levels of at least 1 mRNA (ureI). RhpA remains associated with the ribosomes and polysomes
Narrow and rolled leaf phenotype
No visible phenotype, due to the redundancy with SPX5
No visible phenotype: mice are viable and fertile and display no gross alterations (PubMed:35482892). Mice lacking both Matcap and Svbp are viable but show a reduction in brain volume: microcephaly is associated with proliferative defects during neurogenesis and abnormal behavior (PubMed:35482892). Cells lacking both Matcap and Svbp show abolished tubulin detyrosination (PubMed:35482892)
Cells produce dideoxy-mannopeptimycins
Delays anaphase progression
Affects accumulation of ACBP6 in the phloem
Reduced chitin-induced MPK phosphorylation. Strongly reduced chitin-induced cell wall-associated depositions. Reduced accumulation of PAL4 and CHS transcripts in response to chitin. Double deletion mutant MEKK1a/MEKK1b does not phosphorylate MPK and is unable to induce the depositions in response to chitin. The growth of the double mutant is inhibited within 1 min after chitin exposure as in wild-type
No visible phenotype when grown at 22 degrees Celsius. Chilling-induced chlorosis and reduced growth at 5 degrees Celsius
(Microbial infection) Reduced tobacco mosaic virus (TMV) accumulation associated with altered endoplasmic reticulum (ER) transition in TMV-infected cells
Decreased Gria1/GluA1 and Gria2/GluA2 density at extrasynaptic sites and increased density of Gria1 at synapses (PubMed:29490264). Reduced cell surface expression of Gria1 and Gria2 (PubMed:31216424). Reduced phosphorylation of Gria1 'Ser-863' and increased phosphorylation of Gria1 'Ser-849' (PubMed:31216424). Reduced synaptic transmission in immature hippocampal neurons (PubMed:29490264). No change in basal synaptic transmission in mature hippocampal neurons (PubMed:31216424). Shown to impair tetanus-induced long-term potentiation (LTP) in 8-12 week old mice in one study (PubMed:29490264). Another study shows no effect on LTP in young mature mice at postnatal days 24-36 (PubMed:31216424). Severely impaired long-term depression (PubMed:31216424). Deficiency in cognitive learning and memory tasks (PubMed:29490264)
Normal asexual development in host erythrocytes; however, erythrocyte invasion by newly released merozoites is severely impaired (PubMed:29074774). Abnormal rhoptry morphology and impaired processing of rhoptry-associated protein RAP1 (PubMed:29074774)
In contrast to the knockout of its paralog MT2, has no effect on methylation of GluCers and exhibits no growth defects. However, a double-knockout with its paralog MT2 is not viable
Deletion increases intracellular arabinose concentrations as compared to the wild type
Confers sensitivity to calcofluor white, and prevents growth on non-fermentable carbon sources such as glycerol or lactate (PubMed:11353088, PubMed:24998441). Sensitizes cells to oxidative stress (PubMed:24998441). Leads to a decrease in peroxisome abundance when oleate was used as a sole carbon source (PubMed:24998441)
Leads to reduced aerial hyphal growth and conidiation (PubMed:18344407). Does not affect appressorium formation but impairs infectious growth (PubMed:18344407)
Inactivation of the gene results in loss of the ability to take up glucosylglycerol and sucrose, as well as to accumulate exogenous trehalose. Insertion causes leakage of glucosylglycerol from the cells into the medium
Homozygous for these mutant alleles complete embryogenesis normally, but manifest a cystic kidney phenotype during the early larval stages and die within a month of hatching. Elimination of maternally derived talpid3 activity by germline replacement resulted in embryonic lethality of talpid3 homozygotes. The phenotype of such maternal and zygotic mutant show absence of primary and motile cilia as well as aberrant Hedgehog signaling
Deletion of the higB-higA operon has no effect on virulence in mouse infection; the disrupted strain is as virulent as wild-type
Viable. Disrupted localization of rab-11.1 and prolonged cytokinesis in embryos. Double knockout with rei-2 results in a smaller brood size, weak embryonic lethality, enhanced mislocalization of rab-11.1 and prolonged cytokinesis in embryos
RNAi-mediated knockdown causes significant reduction in the expression of 21U-RNAs, upon simultaneous knockdown of fkh-3 and fkh-4
Loss of microbial symbioses. Undergoes typical root hairs growth deformation in response to Nod factors, but exhibits no calcium spiking and nodule formation
Encephalomyopathy due to a widespread coenzyme Q deficiency and accumulation of demethoxyubiquinone. Lethality between 3 and 6 months of age, due to neuronal death and demyelinization with severe vacuolization and astrogliosis in the brain
Reduced chloroplast biogenesis and chlorophyll synthesis associated with less POR protein accumulation
Increases titan cell formation (low penetrance) (PubMed:31140968). Low or no sensitivity to high temperature or tacrolimus (calcineurin inhibitor); sensitivity may be background dependent (PubMed:31140968). No cell population growth phenotype in a variety of conditions including high pH, low calcium, in presence of the antifungals amphotericin B or fluconazole, heavy metals (nickel or zinc), osmotic stress (NaCl), cell wall integrity stressors (Calcofluor White, caffeine, or Congo Red), oxidative stress (H2O2), or nitro-oxidative stress (NaNO2 or H2O2), or following ultraviolet light radiation (PubMed:31140968). Normal mating (PubMed:31140968). Normal virulence factor secretion; assayed using melanin and urease (PubMed:31140968). Normal virulence in mouse intranasal, intravenous, and intratracheal infection models or in an invertebrate infection model (PubMed:31140968). Normal survival rate following amoebal ingestion (PubMed:31140968)
Severe paralysis at the 1-fold stage of embryonic development followed by an arrest in elongation at 2-fold stage (PubMed:8106547). Loss of myosin and actin organization in embryonic body wall muscles and loss of muscle cell polarization (PubMed:8106547). RNAi-mediated knockdown in post-hatching animals causes paralysis associated with severe disorganization of body wall muscle actin filaments and defects in egg-laying associated with embryonic hatching within the mother (the bag of worms phenotype) (PubMed:12915588). Few surviving adults, are uncoordinated with abnormal body size and shape and have defects in distal tip cells (DTC) migration resulting in abnormal gonad formation (PubMed:17606640). RNAi-mediated knockdown in L4 larval stage, causes ectopic membrane extensions from body wall muscles (PubMed:16495308). RNAi-mediated knockdown results in impaired mobility, mitochondrial fragmentation and disrupted integrin attachment complexes in muscle (PubMed:22253611). This leads to degradation of muscle proteins in the cytosol, myofibrillar defects and disruption of sarcomere organization (PubMed:22253611). RNAi-mediated knockdown in vulval precursor cells in a let-60 gain of function mutant background results in increased vulval induction and an adjacent primary fate (Apf) phenotype whereby secondary vulval precursor cells transform into primary-like vulval cells (PubMed:28135265)
Small body size phenotype
Disappearance of all phenazine N-oxide products with significantly increased phenazine non-oxides. Exhibits some antibacterial activity toward E.coli and B.subtilis, but at a much lower level than the wild type
Cells produce PGA but at a greatly reduced level
Cells lacking this gene no longer produce detectable amounts of L-propargylglycine and L-beta-ethynylserine, that are terminal alkyne-containing amino acids produced by wild-type S.cattleya. They accumulate the intermediate 4-chloro-allyl-L-glycine
Increased formation of lateral and adventitious roots and increased production of NO in roots
Probably essential, it cannot be disrupted
Mice lacking WDR37 have reduced absolute numbers of circulating T and B lymphocytes
Mice exhibit blocked spermatogenesis at the early prophase of the first meiosis due to transposable elements derepression, and apoptosis occurs subsequently. Female mice are fertile, while male are sterile
Loss of expression of the competence regulatory element (CRE) regulon required for development of competence
Mice develop until 9.5 dpc but die before 11.5 dpc. At 10.5 dpc embryos display multiple malformations associated with hypocellularity and reduced body size. Required for neural, heart and paraxial mesenchyme
Defective embryo arrested at preglobular/globular stage. Disturbed endosperm lacking the aleurone-like peripheral cell layer and unorganized embryo development displaying irregular mitotic divisions in the embryo proper and suspensor. In a partially disrupted phenotype, impaired meristems organization characterized by vacuolated cells, abnormal cotyledon epiderm made of chloroplast-containing cells, and radialized leaves. Decreased numbers of giant cells in sepal epidermis of dek1-4 (PubMed:25315606)
Mice heterozygous survive to adulthood and present no phenotype (PubMed:18560595). The homozygous knockout of Atoh8 is embryonic lethal (PubMed:18560595)
Deficiency in the ability to nurture young animals and the majority of pups die within 1-2 days of birth (PubMed:8706134). Impaired nurturing behavior towards newborns is observed in postpartum mothers as well as in young females and males (PubMed:8706134). Failure in AP-1 binding activity after repeated cocaine administration (PubMed:9294222). Exaggerated locomotor activation in response to initial cocaine exposures as well as robust conditioned place preference to a lower dose of cocaine, but lack of increment in cocaine-induced hyperactivity over 6 days (i.e. sensitization) (PubMed:9294222). Decreased sensitivity to rewarding properties of morphine and spatial memory impairment (PubMed:18407360). Decreased proliferation and increased ectopic migration of neural progenitor cells in the hippocampus (PubMed:23303048). Exhibit impaired adult hippocampal neurogenesis and spontaneous epilepsy with depressive behavior (PubMed:23303048). Altered gene expression in the hippocampus, including genes implicated in neurogenesis, depression, or epilepsy (PubMed:23303048). Knockout in hippocampal neurons, including neurons of the subgranular zone of the dentate gyrus, leads to a reduction of antidepressant-induced neurogenesis and impedes hippocampus-dependent learning in the novel object recognition task (PubMed:30902680)
Lethal at perinatal stages, with most of the neonates dying within 24 hours. Mutants display slightly enlarged heart, but no clear effect on heart functionality is observed. Mutant mice display abnormalities in semilunar valves and ventricles, myocardial degeneration and fibrosis, as well as abnormal intracortical migration of interneurons and premature invasion of the cortical plate. According to PubMed:17804806, mutants display ventricular septal and atrial septal defects. According to PubMed:21246655, mutants display ventricular septal defects but no atrial septal defects. According to PubMed:18442043, no abnormalities in semilunar valve formation or ventricular septal defects are observed. No effect on hematopoiesis, neural development and gastrointestinal vascularization is observed. No apparent bone phenotype is observed. Mutant embryos show oculomotor nerve misrouting, ranging from complete misprojection in the midbrain, to aberrant peripheral branching, to a thin nerve, which aberrantly innervates the lateral rectus (PubMed:31211835)
Mice lacking isoform tumor suppressor ARF of Cdkn2a display delayed mammary gland involution
Deficient mice are born at the expected Mendelian ratio and are indistinguishable from wild-type at birth. However, at about 14 days after birth, the growth rate of the mice slow significantly and all mutants died by the fourth week. At about 12 days after birth mice are unable to walk. In addition mice show extensive neurodegeneration accompanied by involuntary movements atarting at about 14 days after birth
Null mutant does not produce SL-1 (PubMed:17259623, PubMed:17592143). Disruption of the gene does not alter the virulence of M.tuberculosis in mice (PubMed:17592143)
Deletion mutant does not grow on cholesterol, but grows as the wild-type on glycerol. In the presence of cholesterol, disruption mutant accumulates 5OH-HIC-CoA
Reduced capacity to grow photoautotrophically associated with low levels of many plastid transcripts (e.g. PSI (PsaA, PsaF), PSII (D1, CP43, CP47), Cytochrome b(6)f (Cytb(6)), ATP synthase (AtpC), LHCs (LHCa3, LHCb2), and NDH (NdhH)) but abnormal accumulation of others, altered plastid translation as well as a strongly affected plastid ultrastructure (e.g. almost absent stromal lamellae and swollen grana stacks) with a large number of plastoglobuli and reduced photosynthetic performance due to strong defects in the major complexes of the thylakoid membrane
Mice display the glaucoma-relevant mutant 4 (Grm4) phenotype, with angle-closure glaucoma and eyes having short axial length. High intraocular pressure (IOP) in mutant eyes increases with age and the anterior chambers become enlarged in some eyes at around 3 months of age. Eye's angles are not occluded with abnormal tissue (synechia) and have detectable trabecular meshwork and Schlemm's canal (2 important drainage structures). However, compromised aqueous humor drainage (outflow) contributes to the IOP elevation. After IOP elevation, mutants develop glaucomatous neurodegeneration, which is characterized by retinal ganglion cell death and optic nerve atrophy
Death during the larval stages, due to defects in tracheal development characterized by fluid filling of the second instar tracheae. Mutant larvae that survive into the third instar are smaller than wild-type larvae and fail to pupariate
Mice are born at the expected Mendelian rate, appear healthy and are fertile, but tend to die already after about one year. Mutant mice display an increased inflammatory response during zymosan-induced peritonitis, with increased blood leukocyte migration and increased production of IL1B. In mutant mice, glucocorticoid-mediated down-regulation of the early phase of the inflammatory response is abolished, but there is no effect on glucocorticoid-mediated down-regulation of later phases of the inflammatory response. Peritoneal lavage macrophages from mutant mice display decreased phagocytosis. Besides, glucocorticoid-mediated inhibition of phagocytosis is abolished (PubMed:12475898). Mutant mice display increased susceptibility to dextran sulfate sodium (DSS)-induced colitis with increased mucosal injury, slower recovery and increased morbidity (PubMed:18802107). Mutant mice have an exacerbated allergic response after exposure to ovalbumin (PubMed:17948261). T-cells from mutant mice show skewed differentiation into Th1 and Th2 cells with increased differentiation into Th2 cells and decreased differentiation into Th1 cells (PubMed:17948261)
Cells lacking this gene are deficient in sampylation, i.e. SAMP-protein conjugates. Moreover, they do not grow anaerobically with DMSO and do not show DMSO reductase activity, but their growth in the presence of oxygen is not affected; however, they are retarded in aerobic growth at 50 degrees Celsius. The lysine tRNAs of the mutant strain appear to be nonthiolated
High susceptibility to systemic infection by C.albicans with 100% mortality by day 16 post-infection (PubMed:23071280). Does not alter Nlrp3 inflammasome activity and up-regulates Gdpd3 expression (PubMed:22538615). Does not impair skin repair after wounding (PubMed:27221772). Also does not impair the irritant contact dermatitis response following treatment with the irritant croton oil (PubMed:27221772). Significantly reduced inflammation in dinitrofluorobenzene-induced contact hypersensitivity response with reduced numbers of CD3(+), CD8(+) and CD4(+) T cells (PubMed:27221772)
Normal growth and development under nonstress conditions. Compromised acquired thermotolerance following a long recovery period (> 24 h) after acclimation heat shock (HS) treatment, but normal when challenged within a short recovery period (PubMed:16500991, PubMed:17085506). Reduced expression of several highly heat-inducible genes. Slight increased in sensitivity to HS without acclimation (PubMed:17085506). Faster degradation of HSP101 (PubMed:23439916)
Disruption or deletion of the gene decreases resistance to ethidium bromide and acriflavine and results in a small decrease in minimal inhibitory concentrations (MICs) for ciprofloxacin, doxorubicin, rhodamine, norfloxacin, isoniazid, tetracycline, ethambutol and rifampicin
Plants suppressed for PMT1, PMT2, PMT3 and PMT4 exhibit strongly reduced nicotine levels but accumulate polyamines in roots, and have an impaired leaf maturation phenotype at harvest
Disruption of the fitAB locus leads to faster transepithelial cell trafficking of the bacterium; mutants adhere to and invade cells normally. Mutants grow normally in liquid culture but much faster within human cell lines A431 and T84; these latter 2 phenotypes were observed using MS11A bacteria with a disrupted fitAB locus
Knockout mice are viable, morphologically normal and fertile (PubMed:15367664, PubMed:15863505). Reduced regeneration of damaged skeletal muscle fibers following injury with increased numbers of mononuclear cells and a significant reduction in the number of myofibers (PubMed:15367664, PubMed:17363903). Impaired proliferation of myogenic progenitor cells, reduced number of satellite cells within the tibialis anterior muscles, and a decrease in FOXK1 expression (PubMed:17363903)
Abolishes the production of all paspalitrems, but accumulates paspaline
Mice are born at the expected Mendelian rate and have normal weight at birth. However, they display strongly decreased growth during the following weeks and die between 15 and 35 days after birth. Mice display ataxia and motor coordination defects that worsen with increasing age. Mice with a neuron-specific gene disruption display normal overall brain architecture, but the size of the cerebellum is strongly reduced in adults. After the third week after birth, a progressive loss of Purkinje cell is observed, leading to cerebellar atrophy. Purkinje cells from mutant mice appear normal at 9 days after birth, but display a strong decrease of the size and arborization of dendrites, associated with impaired dendritic protein transport. Other neurons in the molecular or granule layer of the cerebellum are not affected. Mice with a neuron-specific gene disruption display decreased growth, but have a normal lifespan and have only mild motor coordination defects at three weeks after birth, but defects are obvious at 8 weeks after birth
Plants show excess branching of trichomes (PubMed:16778018, PubMed:24824485). In plants missing HDG3, HDG7, HDG11, PDF2 and ATML1, increased cell division leading to cell overproliferation (PubMed:25564655)
Decreases induction of mitophagy in stationary phase following growth on a respiratory carbon source
Larval locomotion defects and early larval lethality (L1-L2). In the CNS, axon outgrowth/guidance and glial development appear normal; however, a subset of eve(+) neurons forms in reduced numbers
Mice display severe ataxia within one week after birth and die before weaning, probably due to convulsions. They display marked hypomyelination of the peripheral nerves
Cells lacking this gene accumulate Man-alpha-1,3-Glc-beta-1,4-Glc-PP-polyisoprenyl, are unable to produce GlcA-Man-Glc(2)-PP-Pol, and show a decrease in xanthan production of more than 95%
Mice grow normally and body weight was similar to that of wild type. Heterozygous mutant mice survived to adulthood and appeared normal
No visible phenotype and no effect on the derubylation of CUL1 (PubMed:15486099, PubMed:17307927). Csn5a and csn5b double mutants are lethal at the seedling stage (PubMed:17307927)
Mildly increased autoaggregation
No visible phenotype under normal growth conditions, but mutant plants show a loss of susceptibility to rice dwarf virus (RDV) (PubMed:18980655). Plants carrying rim1 mutations show a phenotype of root growth inhibition, semi-dwarf phenotype with short roots, and sometimes twisted leaf tips (PubMed:20015061). Mutant plants maintain green leaves at the age of senescence (PubMed:31911455)
Non-photochemical quenching phenotype
Has similar growth characteristics to wild-type in LB medium at different temperatures (25, 30 or 37 degrees Celsius) or in LB medium supplemented with 0-4 M sodium chloride, 0-1,500 ug/ml chloramphenicol, 0-5% ethanol or 0-1% chloroform. Only when chloramphenicol is present in the medium is a difference in the ability to grow observed. The difference is most pronounced at a concentration of 650 ug/ml chloramphenicol, where the absorbance of the wild-type culture after overnight growth is 1.7-fold higher than that of the pagL disruption mutant
Cobblestone-like cortical malformation with defective pial basement membrane (BM), abnormal anchorage of radial glial endfeet, mislocalized Cajal-Retzius cells and neuronal overmigration. Severe malformation of the rostral cerebellum that develops perinatally. Granule cells from the rostral region show loss of adhesion to extracellular matrix molecules of the pial basement membrane. In ADGRG1 knockout mice, neurons overmigrate through breached pial basement membrane or undermigrate forming irregular cortical layers. Deficient mice shown disruption of seminiferous tubule formation and increased sterility (PubMed:20981830)
Deletion mutant pc13 has a reduced brood size and reduced enzymatic activity (PubMed:7498733). Smaller body size as compared to wild-type. Reduced putrescine and spermidine levels (PubMed:19762559). Double knockout with the polyamine transporter catp-5 results in a reduced brood size, delayed postembryonic development, and a more marked reduction in putrescine and spermidine levels as compared to the single mutants (PubMed:19762559)
Morpholino knockdown causes defects in embryonic heart morphogenesis and pericardiac edema, with defects in heart function that are visible already at 3 dpf. In addition, erythrocytes appear pale due to decreased hemoglobin content
Lack of this gene alone does not alter in vitro and in vivo growth rate or colony and cell shape and morphology. But loss of both LdtMt1 and LdtMt2 severely alters cellular shape, intracellular morphology, physiology and virulence: the length of mutant cells are shorter than wild-type, they have deep surface depressions and bulges, they possess large unstained vacuole-like structures, the thickness of the peptidoglycan layer is smaller, the protein localization is altered, and in vitro and in vivo growth and virulence are severely attenuated. Moreover, double-mutant cells are more sensitive to vancomycin and amoxicillin-clavulanate
Animals show highly increased protein glutarylation in liver
Mice have reduced osteoclasts derived from bone marrow cells, a pH-dependent osteoclast survival effect is also detected. However, the overall bone structures of the mice are not affected. In addition melanoma cell tumorigenesis is significantly inhibited
Reduced rosette size and inflorescence length as well as root gravitropism defects in snx2a and snx2b double mutant. Accumulation of storage protein globulin 12S in dry seeds
Reduced pollen fertility leading to lower seed setting and altered yield
Eliminates the production of fellutamides (PubMed:27294372). Does not impair the production of asperfuranone (PubMed:20952652)
RNAi-mediated knockdown results in ectopic expression of the homeobox protein egl-5 in the head region (PubMed:17574230). RNAi-mediated knockdown results in ectopic expression of tbx-2 in the gut and seam cells of L4 stage larvae and adults (PubMed:23933492). RNAi-mediated knockdown enhances the larval lethality phenotype of the tbx-2 bx59 mutant (PubMed:23933492)
Embryos display defects in brown fat tissue development (PubMed:19641492). Females are sterile, ovaries lack corpora lutea (PubMed:9303532). Upon bacterial infection, animals show impaired bactericidal activity and die within 3 days (PubMed:17911624). Posthepatectomy, animals show a reduced regenerative response with DNA synthesis decreased to 25% of normal in hepatocytes and a prolonged period of hypoglycemia (PubMed:9727068). Animals show osteopenia with decreased bone formation and enhanced ostecolastogenesis. Long bones have a 1.6 fold diminished bone volume with a reduction of the number and thickness of bone trabeculae (PubMed:19440205). Mutants of isoform 2 show impaired CSF3/G-CSF production by macrophages, IFNG production by CD4(+) T-cells and granuloma formation in liver. Upon bacterial infection, mutants of isoform 2 die within 6 days. Resistant to LPS-induced endotoxin shock (PubMed:17911624). Double knockout CEBPA and CEBPB results in embryonic developmental arrest and death at around 10 dpc to 11 dpc, associated with a gross placenta failure (PubMed:15509779)
Loss of DNA transformation; incoming DNA is very rapidly degraded (PubMed:14617176)
Almost complete loss of beta-amylase activity in rosette leaves and inflorescences (stems)
Deletion mutant is defective in both PHA biosynthesis and cell growth. The number of PHA granules is significantly lower
Plants are viable but have alterations in leaf, root and flower development, and are early flowering
Cells lacking this gene are incapable of transporting sialic acid and thus unable to sialylate its LOS, making the organism unable to survive when exposed to human serum and causing reduced viability in biofilm growth
RNAi-mediated knockdown results arrest at the one-cell stage of embryogenesis
Embryonic lethality due to a developmental arrest during the establishment of the blastocyst
Impairs the transcription of the fusarisetin A biosynthesis cluster and abolishes fusarisetin A production (PubMed:25770422)
Cells lacking this gene are shown to be highly attenuated in a mouse tuberculosis model (PubMed:14569030). However, another study shows that in a mouse model of M.tuberculosis infection, cells lacking this gene are able to replicate and persist in lungs similar to the wild-type strain (PubMed:26258286). The mutant cells grow on gluconeogenic carbon sources and have detectable FBPase activity, due to the alternative FBPase (Gpm2, Rv3214) (PubMed:26258286). A third study shows that disruption of glpX leads to a growth profile comparable to that of wild-type when grown on the standard enrichment media, but growth is dysgonic with individual gluconeogenic substrates such as oleic acid, glycerol and acetate, and the mutant strain fails to efficiently replicate during the acute phase (i.e. first 30 days post-infection) of infection and begins to die thereafter (PubMed:26397812). Cells lacking both glpX and gpm2 grow as well as wild-type on glucose, but are unable to grow on any of the gluconeogenic carbon sources tested (glycerol, acetate and butyrate); the growth defect on gluconeogenic carbon sources is fully complemented by restoring expression of either GlpX or Gpm2. This double mutant lacks detectable FBPase activity and accumulates FBP. It is also severely attenuated in a mouse model of infection, as it fails to replicate in mouse lungs during the first 10 days of infection and begins to die thereafter (PubMed:26258286)
Mutant mice show cholestanol accumulation in the cerebellum
Normal vegetative cell population growth (PubMed:32032353). Simultaneous knockout of wtf15, wtf14 and wtf7 results in normal spore viability (PubMed:32032353)
Mutant plants (Ds insertion) display reduced inflorescence height, silique number and seed yield
RNAi-mediated knockdown at the L1 larval stage causes a reduction in egg-laying, likely due to a defect in the egg-laying apparatus muscles
Disruption of the gene reduces the ability of M.tuberculosis to bind to host cells. Disruption does not reduce virulence in a mouse model of infection
Increased generation time and a temperature-sensitive phenotype
Keeps the ability to penetrate maize epidermis and to grow intracellularly at sites of infection but fails to spread and induce tumors in infected leaves
Mutant animals have a shortened lifespan (PubMed:21173151). Mutant mice show an increase of sphingoid base phosphates, but also other sphingolipids (including sphingosine, ceramide, and sphingomyelin) in the serum and/or liver, resulting in changes in the levels of serum and liver lipids not directly within the sphingolipid pathway, including phospholipids, triacyglycerol, diacylglycerol, and cholesterol (PubMed:20097939). They are deficient in B and T lymphocytes yet have high blood levels of neutrophils and monocytes along with elevated expression of pro-inflammatory cytokines. Their tissues are largely clear of infiltrating leukocytes and their neutrophils are defective in migration to chemotactic stimulus (PubMed:21173151). Mice lacking Sgpl1 exhibit complete podocyte foot process effacement and absence of slit diaphragms in kidney (PubMed:9464245, PubMed:28165339). They display hypoalbuminemia and an elevated urinary albumin/creatinine ratio (PubMed:28165339). They also display abnormal adrenal gland morphology and defective expression of enzymes involved in steroidogenesis in this tissue (PubMed:28165343). Conditional knockout in brain significantly reduces phosphoethanolamine levels with alterations in basal and stimulated autophagy involving decreased conversion of LC3-I to LC3-II, increased levels of lysosomal markers and aggregate-prone proteins such as APP and SNCA. Animals show profound deficits in cognitive skills (PubMed:28521611)
RNAi-mediated knockdown in the trachea results in a U-turn phenotype in which the seamless tubes undergo a series of 180 degree turns in terminal tip cells
Mutations prevent expression of the entire eut operon (PubMed:2656649). No phenotype during bacterial growth in vitro. About 10-fold outcompeted by wild-type in mouse intestines at 2 and 4 days following oral infection. Loss of induction of pathogenicity island SPI-2 in mouse macrophages (PubMed:26684793). About 25% reduction in survival in mouse macrophage assays. Bacteria growth is not enhanced by exogenous EA in macrophage survival assays (PubMed:29531136)
Normal growth rate and starch breakdown in leaves during the night
No visible phenotype under normal growth conditions (PubMed:23122843). Unable to be colonized by arbuscular mycorrhizal fungi, with a defect in hyphopodia formation on the surface of the root (PubMed:23122843). Defects in colonization by an oomycete pathogen, with the absence of appressoria formation (PubMed:23122843)
No visible phenotype, due to redundancy with ESF1.1 and ESF1.2. Simultaneous down-regulation of all 3 genes by RNAi induces embryo abnormalities
Disruption of the ure1 gene cluster via a large in-frame deletion in this gene abrogates urease activity
Knockout embryos display higher susceptibility to oxidative stress in endothelium cells located in the intersomitic vessels
Some animals develop hydrocephalus as early as 8 weeks after birth. A few die spontaneously at 9 weeks and have diffuse cerebral hemorrhage not seen in wild-type littermates
The knock-down strain shows significantly lower biofilm dispersion compared to the wild type
RNAi-mediated knockdown causes severe reduction in cortical contractions and lack of pseudocleavage furrow formation in the 1-cell embryo (PubMed:20040490, PubMed:27335426). Positioning of the spindle is abnormal due to reduced pulling forces that prevent oscillatory movements of the posterior spindle pole during anaphase (PubMed:20040490, PubMed:27335426)
Abnormal organ morphology (e.g. pale green, reduced stature, crumpled and irregular margins in leaves and floral organs, and shorter roots) due to altered pattern of cell division and differentiation. Impaired plastid division leading to enlarged chloroplasts and the formation of cells lacking plastids. Reduced susceptibility to viral infection by cabbage leaf curl virus (CaLCuV)
Promotion of leaf senescence associated with abnormal expression levels of several senescence-associated markers genes. The double mutant wrky54 wrky70 exhibits stronger leaf senescence symptoms (PubMed:22268143). Increase in the number of necrotic leaves and in the intensity of necrosis in response to E.amylovora (PubMed:22316300). The double mutant wrky54 wrky70 exhibits an enhanced tolerance to osmotic stress associated with improved water retention and enhanced stomatal closure as well as salicylic acid (SA) accumulation, but a reduced induction of osmotic stress-responsive genes and reduced accumulation of the osmoprotectant proline (PubMed:23815736). Unstressed wrky54 wrky70 double mutant exhibits increased levels of SA, moderate accumulation of hydrogen peroxide H(2)O(2) and up-regulated expression of both SA and JA/ethylene (ET) responsive defense related genes; thus promoting cell wall fortification and consequently enhancing resistance to necrotrophic pathogens (e.g. P.carotovorum and B.cinerea) associated with reduced cell death, but is not sufficient to trigger hypersensitive reaction (HR)-like cell death and resistance to biotrophic/hemibiotrophic pathogens (e.g. P.syringae), characterized by reduced amount of callose (PubMed:28837631). The triple mutant wrky46 wrky54 wrky70 has defects in brassinosteroid (BR)-regulated growth and is more tolerant to drought stress (PubMed:28576847)
No visible phenotype. Mice are born at the expected Mendelian rate. Females have normal fertility. Mutant mice have normal renal function, urine volume and urine osmolality (PubMed:9843913). Mutant mice fail to develop fever in response to pyrinogens, including IL1B, prostaglandin E2 and bacterial lipopolysaccharide (LPS) (PubMed:9751056). Mutant mice lack the normal potentiation of platelet aggregation by prostaglandin E2 and display prolonged bleeding times and decreased susceptibility to thromboembolism (PubMed:11535576). Mutant mice have normal basal levels of HCO3(-) secretion in the duodenum, but fail to respond to mucosal acidification by increased HCO3(-) secretion. Unlike wild-type, they have a high incidence of ulcers in response to mucosal acidification (PubMed:10535876)
Mice are normal but males are sterile. Male sterility is due to defects in sperm motility inability to fertilize intact eggs. Moreover, spermatozoa fail to develop the cAMP-dependent protein tyrosine phosphorylation that coincides with the functional maturation occurring upon incubation in capacitating conditions in vitro. cAMP analogs almost completely rescue the motility and infertility phenotypes
Accumulates glucose 6-phosphate and fructose 6-phosphate. Has an increased carbon flux through the pentose phosphate pathway, resulting in a higher production of the pigmented antibiotics actinorhodin and undecylprodigiosin
Does not affect the production of fumonisins B1, B2 and B3 (PubMed:12620260)
Strand-specific deletion mutant, which disrupts only mbiA, shows no difference in growth compared with wild-type strain at 37 degrees Celsius or after heat shock. Biofilm formation is increased at 37 degrees Celsius
Lethality by postnatal day 14 (PubMed:31203368). Conditional deletion in neurons impairs endosomal ubiquitin processing and promotes neurodegeneration (PubMed:31203368)
Diminishes colony growth and affects conidiation (PubMed:29247055). Decrease in the expression of transcription factors brlA and wetA, components of the central regulatory pathway essential for conidiophore formation (PubMed:29247055). Increases the expression of nsdC, encoding a transcription factor necessary for normal sclerotial production, ans subsequent production of sclerotia (PubMed:29247055). Increases also the production of aflatoxinvia the induction of aflatoxin cluster regulatory genes aflR, aflJ and ver1 (PubMed:29247055). Dicreases the expression of the polyketide synthase-nonribosomal peptide synthetase (PKS/NRPS) gene (AFLA_139490), essential in the synthesis of cyclopiazonic acid (CPA), and of ustD, involved in the production of ustiloxin (PubMed:29247055)
Chlorotic leaves and impaired growth when grown under ambient air, but normal growth under CO(2)-enriched air
Significantly reduced chitin-induced cell wall-associated depositions. Reduced accumulation of PAL4, CHS, ERF2, alpha-DOX and LOX7 transcripts in response to chitin or chitosan. Susceptible to necrotrophic fungus B.cinerea, characterized by the symptoms of browning protonema and stems becoming visible 2 days after the infection leading to host cell death. Reactive oxygen species (ROS) production is detected in infected tissues, and phenolic compounds are incorporated in cell walls in contact with B.cinerea hyphae, especially around the point of hyphal penetration, but there are no clear differences compared to wild-type. Susceptible also to necrotrophic fungus A.brassicicola characterized by the production of significantly more spores 4 days after the infection compared to wild-type. Transcript levels of SnRK2 proteins respond similarly to wild-type in response to NaCl treatment
Deletion mutants form biofilms thinner than wild- type and show greatly reduced surface accumulation compared to wild-type
No visible phenotype. Accumulation of unprocessed 12S globulin in the seeds
Developmental defects, dwarf phenotype and short siliques. DNA hypermethylation at genic regions
Deletion of this gene with concomitant depletion of PBP1a leads to progressive reduction in cell size before ultimate lysis. Cell wall synthesis is also dramatically reduced in these cells
Mice display normal development of natural killer (NK), T- and B-cells, plasmacytoid dendritic cells (pDCs), neutrophils, resting CD8-alpha(+) classical dendritic cells (cDCs), and peritoneal, liver and lung macrophages. However, they show significantly decreased survival after infection by T.gondii. Notably, mice show significantly decreased numbers of lung-resident CD103(+)CD11b(-) dendritic cells and CD103(+)CD11b(-) macrophages after infection
Female mice homozygous for the Dhh gene are fully viable and fertile, whereas male mice are viable but infertile, owing to a complete absence of mature sperm (PubMed:8805249). Male mice exhibit a dramatic reduction in testicular growth (PubMed:8805249). The severity of the phenotype varies depending upon the genetic background of the mice (PubMed:8805249). The majority of the Dhh-null males are pseudohermaphrodites with a blind vaginal opening and evidence of teats. These mice show anastomotic seminiferous tubules, pertitubular cell abnormalities, and absence of adult-type Leydig cells (PubMed:11090455)
Mice are viable and their size is normal. Mice show defects of the accessory olfactory system characterized by disorganization of the glomerular layer of the posterior accessory olfactory bulb and formation of fewer, larger glomeruli. Mice display a loss of male-male aggression in a resident-intruder assay (PubMed:23637329). Mice display moderate hyperactivity in a familiar, but not novel, environment and defective novel object recognition with normal performances in Morris water maze spatial learning and memory, contextual fear conditioning and extinction, and pattern separation tests (PubMed:26283919). Young mutant mice form fewer synapse-forming structures between dentate granule neurons and GABAergic neurons than normal mice, while the synapses that connect dentate granule neurons to CA3 neurons form normally. This may affect the balance of activity across the two types of dentate granule synapses and the CA3 neurons, leading to hyperactivity (PubMed:26575286)
Delayed flowering associated with reduced H3K27me3 level on FLC (PubMed:29314758). The triple mutant pdp1 pdp2 pdp3 has increased levels of FLC, MAF4 and MAF5 expression, but decreased expression of FT (PubMed:29314758)
Mice are viable, fertile but exhibit aberrant development of tail vertebra and susceptibility to carcinogenesis
Deletion mutant is susceptible to killing by V52 strain in a TseL-dependent manner
Increased stability of SPCH and formation of excessive stomatal and non-stomatal cell
Lethal in late larvae and early pupal stages. In immunologically unchallenged third-instar larvae, displays abnormalities of the immune organs, including melanotic cells in the hemocoel and melanotic tumors in the lymph glands; in the primary and secondary lobes, shows activation of lamellocytes and reduced numbers of hematocyte progenitor cells and plasmatocytes. In addition, displays hyperactivation of immune signal transduction via the Toll, JAK/STAT and JNK pathways; shows reduced expression of galactose-containing glycans affecting also spz glycosylation
Strains lacking this gene are not able to grow with N(2) as a nitrogen source in the presence of CO
Accumulates recombination intermediates blocked at the RAD1/RAD10-dependent 3' flap cleavage step. Abolishes association of RAD1 at single-strand annealing (SSA) intermediates. Insensitive to MMS, HU, or phleomycin treatment. Doesn't sensitize cells to UV lesions. Substantially increases the rDNA recombination rate
Impairs the production of monodictyphenone, but leads to the accumulation of endocrocin (PubMed:20139316, PubMed:21351751)
Leads to cells defective for the utilization of hypoxanthine or xanthine as nitrogen sources, while being still able to utilize uric acid or allantoic acid
Viable, but with failed nuclear migrations in hyp7 hypodermal precursor cells (PubMed:11748140, PubMed:16481402, PubMed:19605495, PubMed:20005871, PubMed:20921138). Hyp7 nuclei are mislocalized to the dorsal cord of L1 stage larvae (PubMed:19605495)
Disruption causes an increase in the frequency of recombination between perfectly matched sequences
Early flowering. Decreased level of H3K4me3 and histone H3 and H4 acetylation in the region spanning the transcription-translation start site of FLC, but not of UFC or DFC
Mild decrease in swimming behavior but otherwise no apparent phenotype
Half of the embryos die by 17.5 dpc-18.5 dpc and neonates die within a few hours. Mutants display defective vascular development, cerebellar development, B-lymphopoiesis, myelopoiesis, and cardiogenesis with defective formation of the large vessels supplying the gastrointestinal tract
Derepression and constitutive activation of sigma-E function, consequently loss of acid stress response
No visible phenotype under normal growth conditions, but mutant plants show enhanced disease susceptibility to the virulent pathogen H.arabidopsidis isolate NOCO2
Increased plant height with abnormal shoot gravitropic responses (PubMed:24179095). Longer primary root length and increased number of lateral roots initiation and primordia (PubMed:27296247)
Leads to increased susceptibility to neutrophils
Mice display sclerosis of kidney glomeruli, possibly due to failures in the elimination of toxic metabolites
No defect in anchor cell invasion. In 7 percent of cdh-3 and zmp-1 double mutants and in 25 percent of cdh-3, him-4 and zmp-1 triple mutants, anchor cell invasion is delayed
Stunted growth
Leads to conidiophores that lack both metulae and phialides and that consist of a stalk from which chains of conidia bud directly (PubMed:11994146, PubMed:20465521)
Leads to the accumulation of intermediate diastereomers that are methylated at C6 of the pyrrolizidinone
In cells lacking this gene, bjaI expression is about 15% of the level in wild-type cells and IV-HSL is <25% of wild-type levels
Homozygous lethal
Produces only non-methylated glucosylceramides (PubMed:16339149). Shows no alteration of growth and no increase in the level of resistance to plant defensins MsDef1 and RsAFP2 (PubMed:19028992)
Mice grow normally and do not display gross developmental abnormalities (PubMed:18066067). Embryonic fibroblasts obtained from null mutant mice do not express Akirin1 (PubMed:18066067)
Loss of male fertility. Reduced expression of germline-specific genes (e.g. MGH3, GEX2 and GCS1) (PubMed:19300502). Blocked generative cell division resulting in the formation of bicellular pollen grains at anthesis. Pollen fails to enter mitosis at G2-M transition associated with reduced levels of CYCB1-1. Blocked generative cell division followed by endocycle during pollen maturation leads to single larger diploid sperm cell unable to perform fertilization (PubMed:15694308, PubMed:15618418, PubMed:19300502, PubMed:24876252). Enhanced polytubey (e.g. multiple pollen tubes entering ovules) (PubMed:22608506)
Mice homozygous for an ENU-induced allele exhibit an early-onset, progressive hearing loss, with a lack of fast-graded voltage responses. These mice harbor an early truncating nonsense variant (Trp4Ter). By postnatal days 6 (P6), mutants do not exhibit any gross patterning defects, or differences in the overall number of outer hair cells (OHC) and inner hair cells (IHC) bundles compared to controls. However, despite normal shape organization, these mice shown a progressive reduction in height of the middle and shortest row stereocilia, which is evident first in OHCs by P8, and then later in IHCs at P16
Reduction by 10 precent of total chlorophyll, with slight increase of chlorophyll a/b ratio and slight decrease of chlorophyll-to-carotenoid ratios. Overaccumulation of ClpS1 protein
Second instar larvae lethal
Abolishes the production of swainsonine but still produces the 1,2-dihydroxyindolizine epimers intermediates
Abnormal pale brown color of seed coat (testa) due to low flavonoid accumulation levels
Significantly reduced levels of SnRK2 proteins activated by NaCl or abscisic acid (ABA) compared with wild-type
Significantly decreases the production of dibenzodioxocinones by approximately 67%
Normal vegetative cell population growth rate and morphology (PubMed:15082763). Decreases expression from the HO locus (PubMed:15082763)
Temperature-sensitive mutants grow as normal rods at 30 degrees Celsius but grow and divide as cocci during prolonged culturing at 42 degrees Celsius
RNAi-mediated knockdown results in disrupted clearance of intracellular pathogen N.parisii from intestinal cells
Cilia absent or reduced, virtually no cilia of the normal 5 uM mean length (PubMed:21289087). Conditional knockdown in preadipocytes results in loss of cilia. Mutant mice show a significant reduction of gonadal white adipose tissue and total fat mass associated with reduced serum LEP levels (PubMed:31761534)
Impaired germination after imbibition, rescued by sucrose treatment. Resistance to FAc, IBA and 2,4-DB. Compromised ability to convert acetate into soluble carbohydrate. Defective in lipid mobilization and accumulate acyl CoAs. Poor initiation of lateral root formation and smaller rosettes with fewer leaves than in wild-type. Crinkled and waxy leaves
In double and triple mutants arl8a-1 arl8b-1 and arl8a-1 arl8b-1 arl8c-1, impaired multiplication of tomato mosaic virus (ToMV) associated with reduced production of negative-strand RNA
Lethal at early L1 larval stage due to excretory defects. Maternal copy required for survival
Mutant embryos die prior to 8.5 dpc (PubMed:33276377). Heterozygous null mice are small and exhibit defects in axial skeleton, kidneys and esophagus (PubMed:33276377)
Deletion mutant is impaired in its capacity to accumulate nickel. Nickel accumulation and urease activity are almost completely abolished in a nixA-nikA double mutant
Defect in both hypocotyl and cotyledon photoresponsiveness during deetiolation
Viable with no gross morphological defects, but exhibit uncoordinated locomotion and body positioning (PubMed:24569477, PubMed:24569480, PubMed:26371552). Small reduction in the density of microtubule bundles along the length of the body (PubMed:25437544, PubMed:26371552). Fewer microtubules in the axons of PLM and ALM neurons (PubMed:25437544, PubMed:24569477). Defective touch neuron morphology with ectopic neurites extending from the cell bodies of ALM neurons (PubMed:25437544). Irregular PLM neuron morphology including defective PLM neuron commissure extension, loss of collateral branches, presynaptic varicosities, overextended neurites and abnormal synapse localization as identified by lack of small GTPase rab-3 and snb-1 at synaptic patches (PubMed:24569477, PubMed:24569480). Impaired PLM neuron regeneration following severing of the PLM axon (PubMed:25437544). Loss of circumferential microtubule bundles and shortening of remaining bundles (PubMed:27661253). Increased microtubule growth rates (PubMed:27661253). Delayed wound closure (PubMed:27661253). Treatment with a microtubule stabilizing drug, paclitaxel, results in epidermal morphology defects (PubMed:27661253). Treatment with a microtubule destabilizing drug, colchicine, results in loss of light touch sensitivity and ectopic sprouting from neuronal axons (PubMed:24569477). Double knockout with noca-1 isoforms results in severe developmental defects with 60% not surviving beyond early postembryonic stages, mainly dying at the larval developmental stage L4, and slow growth with surviving mutants being smaller in size and uncoordinated (PubMed:26371552). Double mutants also have significantly fewer microtubule bundles along the length of the body, broken or branched seam cell syncytia that is disconnected from the head and the cuticles have increased permeability (PubMed:26371552). In a dapk-1 mutant background, suppression of the epidermal morphology defects (PubMed:27661253)
Decreased DNA cytosine methylation at CpNpG and asymmetric positions at different DNA loci corresponding to retroelements, transposons and repetitive DNA sequences (PubMed:12522258, PubMed:17993621, PubMed:21738482). Reduced H3K9me2 at IGN5 and IGN26 loci (PubMed:21738482)
Cells lacking this gene fail to produce IV-HSL
Lowers cellular NAD(+) levels and decreases the efficiency of nicotinamide riboside (NR) utilization, resistance to oxidative stress, and NR-induced life span extension (PubMed:24759102). Highly sensitive to heat shock and higher sensitivity to ER stress agents than wild-type cells (PubMed:22204397)
Archaeosine is no more detected among the modified nucleosides in tRNA fractions
Newborn mice are viable and do not display physical abnormalities. However, by 3 to 5 weeks of age they develop hunched posture, diarrhea and anemia. They do not survive beyond 5 weeks of age due to severe anemia, hematopoietic defects and the development of progressive systemic inflammatory disease. They display splenomegaly, lymphadenopathy and thymic atrophy, associated with altered B-cell differentiation, altered erythropoiesis, and impaired T- and B-cell functions. The inflammatory disease is characterized by high levels of circulating pro-inflammatory cytokines and lymphocytic infiltrates in non-lymphoid tissues. Heterozygous Ptpn2+/- mice exhibit decreased gluconeogenesis and hepatic glucose production while muscle-specific disruption of Ptpn2 has no effect on insulin signaling and glucose homeostasis in this tissue
Increased length of leaves, petioles, hypocotyls, primary roots and root hairs. Changes in lipid levels and composition
Slower growth and delayed bolting. Nitrite accumulation in leaves
Deletion mutants lack surface pili showing the essential role of PilC for type IV pilus (T4P) biogenesis (PubMed:23413032). In addition, PilC mutants show a diffuse cytoplasmic localization of PilB (PubMed:15659660)
Very pale yellow green leaf phenotype. Virescent leaf phenotype
Cell growth is retarded. Complete loss of hydrolysis for ac-DNLD- and LE-MCA. The efficiency of peptide utilization of proteinaceous nutrients is reduced in mutant cells
Slow growth, reduced brood size, abnormal oogenesis and multiple vulvae (PubMed:17531954). Progressive locomotor defects, which is rescued following exposure to the drugs guanabenz, salubrinal, phenazine, or methylene blue (PubMed:26744324). Lifespan is prolonged following exposure to the drugs guanabenz, salubrinal or methylene blue, but not phenazine (PubMed:26744324). Increases numbers of centrosomal microtubules in early embryos (PubMed:17531954). Reduced neutral lipid levels in intestinal cells (PubMed:25875445). RNAi-mediated knockdown results in paralysis due to an increase in the endoplasmic reticulum stress response, which is rescued following exposure to the drugs methylene blue, guanabenz, salubrinal, or phenazine (PubMed:26744324)
Reduced light-mediated transcription of CHS, CAB, HYH and HY5. Impaired influence of blue light on hypocotyl elongation
No simple nitriles produced
None of the 3 rRNAs are correctly processed at their 5' ends, each accumulates a precursor with 3 extra nucleotides
Impairs the production of PR-toxin as well as of the intermediate eremofortin A, but accumulates eremofortin B
Defects in mid oogenesis. Females are viable but produce eggs with a range of dorso-ventral patterning defects. Flies lay few eggs, all of which are completely ventralized and often collapsed. Effects are due to defects in piRNA biogenesis and derepression of retrotransposons. Defects are not only present in germ cells but also in somatic cells of the ovary
Reduced number of apoptotic cells following gamma-irradiation. In a rad-54 knockdown but not in brc-1 mutant background, restores levels of embryonic survival and chromosomal aberrations in oocytes following gamma-irradiation to almost wildtype. Mutants show slightly reduced levels of egl-1 mRNA expression
Morpholino knockdown of the protein results in developmental delays at 18 hours post fertilization (hpf). At 48-72 hpf the tail is abnormally twisted, and pericardium formation and eye pigmentation are also abnormal. Swim bladders are incompletely formed. Glycosylation of alpha-dystroglycan (dag1) is severely reduced
No growth phenotype, magnetite crystals are slightly smaller with a wild-type surface (PubMed:22846572, PubMed:24961165). Deletion of the probable mamGFDC operon leads to a slight reduction in magnetic response and slightly narrower magnetite crystals (PubMed:22716969)
No visible phenotype. Mice are viable, fertile and have normal CD4(+) T-cell populations in lymph nodes and spleen. In an experimental autoimmune encephalomyelitis (EAE) disease model, the symptoms, such as paralysis, are more severe
No visible phenotype under normal growth conditions, but mutant plants have enhanced disease susceptibility to the pathogens P.syringae DC3000 and Hyaloperonospora arabidopsidis
Dwarfism. Impaired cortical microtubules (MTs) arrangement leading to abnormal cell shapes (reduced complexity), and narrow but thick leaves, characterized by cells small in the leaf-width direction and large in the leaf-thickness direction; this phenotype is also slightly observed in floral organs. Reduced trichome branching. Twisted siliques and reduced seed productivity. Delayed flowering and senescence, but increased tolerance to drought and pathogen attack. No impact on polarized localization of SOKs proteins in root cells (PubMed:32004461)
Histidine and adenine auxotrophy (PubMed:36063996). Decreases capsule size and inhibits the ability of the organism to establish an invasive infection in a murine inhalation model of infection (PubMed:36063996)
No glutamate-putrescine ligase activity in complex medium (CM) in which putrescine is both nitrogen (N) and carbon (C) source, in defined media (DM) with putrescine as the N source and glucose as the C source nor in DM with nitrate as the N source and glucose as the C source
Impaired growth of root hair cells (PubMed:18178669). No visible phenotype (PubMed:15792961)
Aging mice display increased weight. Cells display defects in the G1/S cell cycle checkpoint and CDC25A protein is more stable. According to a report, they also develop tumors with the highest incidence in the lung but also in the kidney, the liver and the uterus (PubMed:18519666). However, increased tumorigenesis was not observed by another report (PubMed:21376736). The differences observed might be due to the different mouse strain background used in the 2 experiments
Inhibited trafficking at the trans-Golgi-network/early endosome (TGN/EE) leading to an increased accumulation of PIN2 in agglomerated intracellular compartments leading to an altered auxin gradient and subsequent growth defects (e.g. disrupted roots architecture and shoot growth) (PubMed:23737757). Increased susceptibility to Pseudomonas syringae infection (PubMed:16840699). Displays growth and polarity defects (PubMed:19230664)
Appears essential for growth, since no null mutants can be obtained. Conditional depletion of this gene prevents t(6)A37 modification, and leads to pleiotropic phenotypes including increased or reduced cell size, unusual distribution of DNA around the cell periphery, nucleoid loss, and membrane/cell envelope defects. These phenotypes could be indirect effects of severe translation defects. The TsaD depletion phenotype is suppressed by overexpressing the response regulator RstA
Loss of the 8 Cas genes in this locus (cas1, cas2, cas3, cas4, cas5, cas6, cas7 and cas8b) leads to loss of CRISPR interference against plasmid targeted by this CRISPR locus, i.e. plasmid is not destroyed by CRISPR (PubMed:22767603). Upon disruption of only this gene, no visible phenotype when grown under differing temperature and salt regimes. Does not produce mature length crRNA. Can be complemented by endogenous Cas6, but not by Cas6 from halophilic archaea H.lacusprofundi, or non-halophilic archaea M. maripaludis or M. mazei. Loss of CRISPR interference against plasmid targeted by this CRISPR locus, i.e. plasmid is not destroyed by CRISPR action (PubMed:24459147)
Less virulent than wild-type in chronic and acute models of respiratory infection
Double knockout with rpt-5 RNAi results in failed expression of the proteasomal subunit rpt-3
No effect on viability. Decreased TORC1 complex activity. Decreased body size and weight. Mutant females have small ovaries, reduced egg chamber growth and exhibit a 90% reduction in eggs laid per day. Activation of autophagy and accumulation of autolysosomes independent of nutritional status
Seems not to affect fumiquinazolines production (PubMed:24612080)
Male gametophytic phenotype with normal pollen formation and germination but impaired pollen tube growth (PubMed:19060111). Embryonic lethality when homozygous due to a retarded development of the embryos that eventually collapse at the silique dehiscence stage (PubMed:20736351)
Heart-specific and striated muscle-specific knockout mice exhibit a lethal phenotype due to a combined COX and copper deficiency that results in a dilated cardiomyopathy. Cardiac copper deficiency is caused by the mislocalization of copper transporter CTR1 to the cytoplasm (PubMed:28973536). Liver-specific knockout mice exhibit a lethal phenotype associated with profound hepatic COX and copper deficiencies. Hepatic copper deficiency is due to reduced localization of CTR1 at the cell membrane and an enhanced proteasomal degradation of CTR1 (PubMed:25683716)
Abolishes both glycolate oxidase and malate synthase G activities. Is unable to grow on glycolate as the sole source of carbon, in contrast to wild type
Worms exhibit lack of endoderm, excessive pharyngeal tissue and premature division of the E daughter blastomeres during embryogenesis. Two-thirds arrest during embryogenesis and the remaining third during the L1 stage (PubMed:9288750). RNAi-mediated knockdown causes partial nuclear re-localization of hmp-2 in the embryonic epidermis and the production of supernumerary gut nuclei probably resulting from epithelial cell hyperproliferation (PubMed:20805471)
Impairs the production of DIF-1 and leads to deficiencies in slug structure and fruiting body formation
Embryonic lethality when homozygous. Embryo maturation arrested at the late globular stage
Apparently normal in utero development but immediate death after birth, probably due acute respiratory failure (PubMed:11359932). Absent GDP/GTP exchange activity of Rab3A (PubMed:11359932). Apparently normal development of the central nervous system during embryonic stages (PubMed:11359932). At 18.5 dpc, no evoked action potentials of the diaphragm and gastrocnemius muscles in response to electrical stimulation of the phrenic and sciatic nerves, respectively. In contrast, axonal conduction of the spinal cord and the phrenic nerve are not impaired. Reduced total numbers of synaptic vesicles at the neuromuscular junction, especially those docked at the presynaptic plasma membrane, whereas postsynaptic structures and functions appear normal (PubMed:11359932). Reduction of excitatory postsynaptic current amplitude in neurons (PubMed:12388783). Synaptic vesicles locate remote from the presynaptic membrane in the central region instead of at the active zones of the presynaptic terminal (PubMed:12388783). RNAi-mediated knockdown results in reduced levels of Rab27a in the activated GTP-bound form (PubMed:18559336). In melanocytes, results in aggregation and perinuclear clustering of melanosomes (PubMed:18559336). RNAi-mediated knockdown in hippocampal neurons leads reduced interaction between Kif1b and Rab3 and to reduced axonal transport of Rab3 (PubMed:18849981)
Morpholino knockdown of the protein results in a ciliopathy like body curvature. Morphant embryos show a reduction and dis-organization of floor plate motile cilia and a significant reduction in primary cilia of the dorsal neural tube. No severe brain abnormalities is observed
Increases phosphatidylserine levels in the outer leaflet of the cell membrane (PubMed:16956384). Simultaneous knockout of DRS2 results in inviabiliy (PubMed:10601336)
RNAi-mediated knockdown in larval brains results in the formation of ectopic neuroblasts in type II neuroblast lineage. Simultaneous RNAi-mediated knockdown of HDAC3 or erm in type II neuroblasts results in a more severe phenotype of ectopic neuroblasts
Disruption of the gene does not prevent spore formation, but mutant is blocked in the appearance of the brown pigment characteristic of colonies of wild-type sporulating cells
Mice are viable and fertile. In the newborn period, their joints appear normal. The aged mice exhibit abnormal protein deposits on the cartilage surface and disappearance of underlying superficial zone chondrocytes. In addition to cartilage surface changes and subsequent cartilage deterioration, intimal cells in the synovium surrounding the joint space become hyperplastic, which further contribute to joint failure
Shorter siliques and ovate leaves with shorter petioles, smaller trichomes, prominent leaf veins and changed cuticular wax coating. Loss of methylation at RdDM target sites. Partially redundant with NRPB9A with respect to Pol II. Nrpb9a and nrpb9b double mutants are embryo lethal
Early embryonic lethality. Severe growth retardation, increased apoptosis, and alterations in the cell cycle
Decreased growth on methylated oligogalacturides; double pemA-pemB deletions grow very poorly on methylated oligogalacturides
Increased expression of flagellin (hag), 30% decrease in motility halo (PubMed:17555441). Suppresses the motility loss and flagellar assembly defect of an fliW deletion (PubMed:21895793). Suppresses the phenotypes associated with deletion of the intracellular flagella chaperone fliS (PubMed:23144244)
Mice are normal and healthy. Poly-A tail elongation in oocytes is not affected and mice are fertile
Impairs both honey and host odor attraction. Leads to DEET insensitivity
No discernible vegetative or reproductive phenotypes, but decreased leucine biosynthetic enzyme activities and lower free leucine concentrations
Mice are viable and fertile (PubMed:15541725, PubMed:18477666). Mice however show alterations in placental development that result in embryonic growth retardation: placentas are smaller and show limited angiogenesis and mis-segregation of the labyrinthine and intermediate layers (PubMed:18477666). Mice also display modifications in the structure and function of arteries, such as rearrangement of the arterial wall elastic fibers (PubMed:22205043)
No visible phenotype under normal growth conditions, but roots of mutant plants are impaired in the interaction with rhizobia, specifically in infection thread (IT) formation in symbiotic roots
Plants are deficient in basal thermotolerance
Defective growth of germline cysts. Fails to efficiently accumulate many localized RNAs, such as Bic-D, orb, osk and nos, but still accumulates grk RNA
Low inositol hexakisphosphate (phytate) levels in seed tissue
Expression of immunoglobulin superfamily adhesion molecules rig-5 and lad-2 is abolished in the dorsal and ventral SAA neurons, while expression of the neuropeptide flp-7 gene is lost in the dorsal SAA subtype but remains unaffected in the ventral SAA subtype (PubMed:26153233). No effect on the number of rab-3 expressing neurons on a sox-2 mutant background (PubMed:26153233)
Male germ-cell-specific conditional knockout results in complete male infertility and meiotic arrest in spermatocytes. Spermatocytes show aberrant chromosomal synapsis and DNA double-strand breaks (DSB) repair and significantly reduced expression of DSB repair-associated genes and meiotic arrest-related genes
Inositol phosphoceramide (IPC) and phosphatidylinositol (PI) is absent and ceramide levels are increased (PubMed:35080445). Results in a mild growth defect (PubMed:35080445). Does not appear to affect production of outer membrane vesicles (OMVs) or OMV cargo selection (PubMed:35080445)
Leads to swollen cells, increased random budding pattern, and severe defect in cytokinesis with enlarged bud necks
Cells lacking this gene lose the ability to produce pyrroindomycins
No effect on pollen germination rate and growth
Effects on sepal fusion, petal number, fertility defects, and carpel abnormality
Plants display defects in hypocotyl differential growth
AO127 mutants were identified based on increased acridine orange uptake. AO127 mutants display enlarged lysosomes in brain and lysosomal accumulation of undigested ribosomal RNA in brain neurons, white matter lesions adjacent to brain ventricles, and frequent focal white matter anomalies throughout the brain. Nevertheless, mutants appear basically normal, reach normal adult size and length, are fertile and do not display obvious gross motor deficiencies
Impaired Agrobacterium-mediated tumor formation
Cells lacking this gene do not show a detectable glutamine synthetase activity and is auxotrophic for L-glutamine. This mutant is also attenuated for intracellular growth in human THP-1 macrophages and avirulent in the highly susceptible guinea pig model of pulmonary tuberculosis
Viable and fertile (PubMed:28317021). In the neuromuscular junctions, results in abnormal tubular endosomal compartments and a reduction in early endosomes which leads to a decrease recycling and recovery of the synaptic vesicle pool and results in failure to sustain neurotransmitter release during high-frequency stimulation (PubMed:28317021). Does not affect synaptic morphology or basal function (PubMed:28317021)
Leads to the formation of sparse hyphae with necrotic centrality, and a reduced number of condia (PubMed:28067330). Fails to penetrate both hosts in infection assays with the two susceptible hosts rice and barley (PubMed:28067330). Leads also to delayed mobilization, reduced lipid bodies and lower turgor pressure of the appressoria (PubMed:28067330). Impairs the delivery of ATG8 to the vacuoles upon nitrogen starvation (PubMed:28067330)
Mutant is unable to anchor the C5a peptidase (ScpB) and Alp2 to the cell wall. Mutant is also impaired for binding to the major extracellular matrix components fibronectin and fibrinogen and displays a significant reduction in adherence to human and murine epithelial cells. Inactivation of the gene has no effect on the virulence in a neonatal rat model but strongly impairs the capacity of the strain to colonize the intestines of gnotobiotic mice in a competition assay
Cells appear to develop normally; however, conditioned medium from these mutants show reduced prespore-cell-inducing activity. Conditioned medium from mutant show no cell division inducing activity
Simultaneous TTLL3 and TTLL8 knockout mice are subfertile owing to aberrant beat patterns of their sperm flagella, which impeded the straight swimming of sperm cells
Leads to sensitivity to bleomycin (Ref.7). Bleomycin sensnsitivity is even increased when CUB1 deletion is combined with proteasome mutants including PRE9 or UMP1 disruptions (Ref.7). Suppresses the copper tolerance induced by the proteasome subunit PRE9 disuption (Ref.7). Leads to synthetic sickness with deletion of RAD6 on media containing bleomycin, but not hydroxyurea (HU) (Ref.7)
Accumulates 20-hydroxy-fusarin (PubMed:23932525)
Mice development is apparently normal. However, they display a dramatic reduction of ipsilateral retinal projection. Mice do not develop neuropathic algesia and physical dependence to morphine
SfrAB-null strain is unable to grow in the presence of acetate and fumarate unless an additional electron donor is present. Strongly reduced NADPH-dependent benzyl viologen reductase activity
Embryo defective arrested at the cotyledon stage, associated with enlarged nucleoli probably due to the over-accumulation of pre-rRNAs
Increased sensitivity to ionizing radiation (IR), lag time before DNA synthesis/repair commences increases considerably, decreased rates of both DNA synthesis and DNA repair following IR. If combined with a temperature-senstitive mutation in dnaE (catalytic subunit of Pol III) viability at 37 degrees is dramatically reduced (PubMed:19303848)
Absence of primordial germ cells, short or missing allantois
No visible phenotype. Mice are born at the expected Mendelian rate, are viable and fertile (PubMed:11003666). Embryonic mutant mice show increased levels of oligodendrocyte precursor cells in the spinal cord, combined with impaired differentiation of the precursor cells into mature, fully myelinating oligodendrocytes (PubMed:21969550). Mutant mice show slightly increased susceptibility to experimental autoimmune encephalomyelitis (EAE) and strongly reduced recovery. Contrary to wild-type, mutant mice remain paralyzed and display increased levels of apoptotic oligodendrocytes in the spinal cord (PubMed:12355066). Besides, mutant mice display impaired contextual fear memory, probably due to impaired dephosphorylation of proteins that are part of important signaling cascades (PubMed:16513268)
Impaired in root growth and true leaf development
Essential, it cannot be deleted; in depletion experiments doubling time increases from 44 to 84 minutes, cells have decreased export of c-di-AMP, increased susceptibility to the antibiotic cefuroxime, a weakened cell wall, 10-fold lower growth in host macrophages, are about 10(3) less virulent in mice and more susceptible to in-host bacteriolysis (PubMed:23716572). In a viable dacA-relA-relP-relQ deletion mutant about 2-fold decreased intracellular levels of c-di-AMP (PubMed:25965978)
Resulted in the accumulation of ergosteryl beta-glucoside (EG) and fragmentation of vacuoles
No obvious somatic morphological defects in adults (PubMed:23499532). However, shows diet-sensitive sterility arising from germ-cell proliferation defects (PubMed:23499532). Sterile when fed the standard bacterial strain, E.coli B (OP50) as food source, and fertile when maintained on E.coli K-12 strains or bacterial soil isolates (PubMed:23499532). Dietary supplementation of L-tryptophan, but not the D isomer, to E.coli B strains suppresses sterility; this effect requires live bacteria (PubMed:23499532). Sterility when fed E.coli B strain OP50 can be rescued by dietary supplementation of either vitamin B12, methionine or choline (PubMed:33016879). RNAi-mediated knockdown targeted to the intestine, but not the germline, restored almost normal fertility on an E.coli OP50 diet (PubMed:23499532). RNAi-mediated knockdown on a rrf-1 mutant background, in which knockdown occurs mainly in the germline but occurs only weakly in somatic tissues, allowed recovery of a majority (64%) of fertile animals (PubMed:23499532). RNAi-mediated knockdown on an nhr-10 mutant background suppresses expression of acdh-1 (PubMed:33016879)
Does not affect growth, morphology and rate of germination of germlings under normal or hypotonic conditions (PubMed:35941834). Leads to a very moderate increase in sensitivity to CaCl(2) (PubMed:35941834)
Mice are deaf, impaired in their sense of balance and suffer from distal renal tubular acidosis
Leads to internal accumulation of precursor CPY
The growth of the inactivated mutant is not restricted at various pH and NaCl concentrations, although it is inhibited in the presence of LiCl at pH 8.5
Decreases growth on D-galactose and impairs growth on galactitol
Double conditional knockout for PGRMC1 and PGRMC2 from female reproductive tissues results in postimplantation embryonic death leading to subfertility, with female mice producing fewer pups/litter than wild-types. They undergo premature reproductive senescence, producing fewer litters overall during the trial compared with wild-types
RNAi-mediated knockdown results in mislocalization of mbm in interphase cells with partial localization to the cytoplasm as well as nucleolar expression
Reduction in inflorescence stem elongation
Abnormal embryo and cotyledon development, and embryo lethality in most cases. When viable, plants are small with greatly delayed flowering time and sterile flowers
Altered expression of MIKC* MADS-controlled genes during pollen maturation. Early flowering under short-days conditions (SD) when combined with AGL15 disruption
Leads to attenuated virulence in mouse models of haematogenously disseminated and invasive pulmonary aspergillosis (PubMed:21062375). Results in increased expression of sreA and reduced expression of hapX iron acquisition transcription factors (PubMed:21062375). Impairs also gluconeogenesis (PubMed:21062375)
Deletion blocks difH recombination. Deletion mutant shows impaired chromosome segregation, slight growth defect, UV and ciprofloxacin susceptibility, resistance to oxidative stress and inability to colonize mice
No visible phenotype. Not essential
RNAi-mediated knock-down is mostly embryonic lethal. Embryogenesis proceeds more slowly and embryos are osmo-sensitive
No visible phenotype, due to the redundancy with TAF14. Modest early flowering. Taf14 and taf14b double mutants show a pleiotropic phenotype that includes small size and abnormal leaf morphology (PubMed:21282526, PubMed:23017898). Taf14 and taf14b double mutants show a reduced H4K5 acetylation in the promoter region of major flowering regulator genes including FLC, CO and SOC1, and a more pronounced early flowering (Ref.9)
Abolishes the production of 15-deoxyoxalicine B and accumulates decaturin C and 5-deoxyoxalicine A
Impairs the production of tentoxin (PubMed:27490569)
Leads to a significant reduction of cell wall mannan and to decreased virulence with a diminished induction of host pro-inflammatory cytokines
NUP50 targeted disruption results in a complex phenotype characterized by neural tube defects, exencephaly, intrauterine growth retardation, and late embryonic lethality
Mutants lacking this gene display a significant colonization defect in an infant mouse intestine colonization assay and mediate less E.coli killing (PubMed:26000450). Mutants show a decrease in vpsL expression and altered levels of cyclic di-GMP, and are deficient in biofilm formation (PubMed:28607158). Mutant does not show any in vitro growth defect (PubMed:26000450)
Reduced phototropic response. Altered light-induced deviation from vertical growth and decreased phytochrome-mediated inhibition of hypocotyl elongation and cotyledon opening. No visible phenotype at the level of leaf flattening and leaf positioning. No effect on negative root phototropism
RNAi-mediated knockdown in the L1 larval stage causes an endomitotic oocyte phenotype; effect not seen if knockdown is targeted to germline, rather than somatic cells (PubMed:29371032). RNAi-mediated knockdown alters ovulation (PubMed:29371032). Spermatheca calcium flux is altered by RNAi-mediated knockdown (PubMed:29371032). RNAi-mediated knockdown, on a lag-2 mutant background, induces the presence of 1-2 extra mesodermal lineage (M lineage)-derived coelomocytes (PubMed:18036582). RNAi-mediated knockdown on a lin-15 mutant background, causes adjacent vulval precursor cells (VPCs) to adopt altered cell fate (PubMed:14960273). On a lag-2 mutant background, RNAi-mediated knockdown causes germ cells to display nuclear morphology consistent with meiotic prophase or gametogenesis in adult hermaphrodites (PubMed:19502484). RNAi-mediated knockdown, when combined with RNAi-mediated knockdown of lag-2, on a dsl-1 mutant background, causes adjacent vulval precursor cells (VPCs) to adopt altered cell fate; phenotype exacerbated on double mutant lin-15;dsl-1 background (PubMed:14960273)
Mice suffer significantly more frequently from urinary tract infections. They shown also spontaneous formation of calcium crystals in adult kidneys, and excessive intake of calcium and oxalate dramatically increases both the frequency and the severity of renal calcium crystal formation in mutant mice, but not in wild-type mice
Deletion of the gene leads to a striking defect in phosphatidylinositol mannoside (PIM) biosynthesis (PubMed:16803893). Deletion mutant is defective in AcPIM6 synthesis, and accumulates the tetramannosyl PIM, AcPIM4 (PubMed:16803893). Loss of the gene leads to changes in cell wall hydrophobicity and plasma membrane organization, but it has no effect on cell growth or viability, or the biosynthesis of other intracellular and cell wall glycans (PubMed:16803893). Deletion of the gene does not cause growth defects under optimal growth conditions, but makes the cell envelope vulnerable to toxic compounds such as copper and antibiotics (PubMed:29390083)
Mice appear anxious and hyperactive, are prone to seizures and have a shortened lifespan compared with their wild-type littermates (PubMed:18815592, PubMed:19001414, PubMed:23029555, PubMed:25549857). Mice show learning and memory deficits: while having intact memories 5 minutes after training, memory is significantly reduced one hour or 24 hours following training, suggesting that both short-term memory and long-term memory are impaired (PubMed:22194569). Mice show social and cognitive defects: they are hyperactive in a novel environment, spend less time exploring, show higher social dominance than their wild-type littermates and display pre-pulse inhibition, working memory, long-term memory and cognitive flexibility deficits (PubMed:23029555). When exposed to an enriched environment, a significantly less frequent and slightly smaller amplitude inhibitory postsynaptic current is observed (PubMed:24201284). Mice show a reduction in the dendritic spine density in olfactory bulb granule cells, leading to impaired odor discrimination learning (PubMed:25088421). Mice also show increased vulnerability to juvenile stress: mice exposed to chronic mild stress during adolescence, but not during adulthood, develop prefrontal cortex-dependent cognitive deficits in adulthood (PubMed:25911220)
Causes transiant accumulation of ectopic joint molecules (JMs) (PubMed:24119400). Leads to a defect in donor preference during mating-type switching (PubMed:27257873). Does not affect FKH1's overlapping role with FKH2 of regulation of the expression of the CLB2 cluster of genes during the G2/M phase of the mitotic cell cycle (PubMed:27257873)
Gene knockdown in orbitofrontal prefrontal cortex results in an inability of mice to select actions based on their consequences, developing instead habit-like behavioral inflexibility
Low and diffuse subcellular localization of pgl-1 in embryos rather than confined to granules in somatic cells
Partial embryonic lethality by embryonic day 12.5, with ventricular hypoplasia and decreased cardiomyocyte proliferation. Viable skNAC(-/-) adult mice have reduced postnatal skeletal muscle growth and impaired regenerative capacity after cardiotoxin-induced injury. Satellite cells have impaired survival compared with wild-type
Mutation affects lipopolysaccharide (LPS) production
No BsuMI restriction or methylation-related phenotype
Loss of mitochondrial integrity (PubMed:26370498). Abolishes growth on non-fermentable carbon source (glycerol with ethanol) (PubMed:26370498, PubMed:27280386). Slow growth on fermentable carbon source (glucose) (PubMed:26370498, PubMed:27280386). Synthetic lethal with VPS13 (PubMed:26370498, PubMed:27280386)
Drastic decrease in seed production (PubMed:21223384, PubMed:20732973, PubMed:21205178, PubMed:21696844). Severely reduced fertility, with most siliques failing to produce seeds by self-fertilization and mature anthers failing to release pollen grains characterized by the absence of an exine wall on microspores, due to an impaired sporopollenin deposition (PubMed:20732973, PubMed:21205178, PubMed:21696844, PubMed:21223384, PubMed:25415974). Aberrant structures in tapetal cells such as accumulation of numerous vesicles and granules probably containing polyketides precursors in tapetal cells (PubMed:21223384, PubMed:25415974). Abnormal pollen grains germinating in the anther before anthesis (PubMed:21205178)
When this gene is missing the Zorya system does not confer resistance to SECphi27 in E.coli
Deletion of the gene decreases the ability to adhere to Chang epithelial cells
Reticulated leaves, early flowering and aborted or unfertilized ovules in siliques
Null mice exhibit a 7-fold increase in the cholesteryl ester fatty acid CEFA ratio of APOB lipoprotein CEs. There is also a 3.6 increase in vascular ring O(2) production and plasma phospholipid (PL)-bound-F2-isoprostane levels. This effect is paradoxically reversed in the APOE knockout background (PubMed:11809774, PubMed:11893779). Mice show a significant reduction in total cholesterol, HDL-cholesterol, apoA-I, serum paraoxonase and PAF acetylhydrolase enzyme activities and show a modest (36%) but significant increase in apoJ levels (PubMed:10393212)
Deletion mutant grows with normal rates, morphology and Z-ring organization (PubMed:20864042, PubMed:27028265). In cells lacking other non-essential division genes implicated in cell wall hydrolysis, such as dipM, ftsE or amiC, deletion of fzlC causes synthetic cytokinesis defects (PubMed:27028265)
Deletion mutant forms slow growing small colonies under aerobic but not anaerobic conditions. Mutant accumulates coproporphyrin specifically under aerobic conditions and shows deficiencies in catalase activity and peroxide resistance
Mice display an inability to rapidly repair single-strand DNA breaks due to covalent bonds between TOP1 and DNA. They are hypersensitive to camptothecin, topotecan and bleomycin
Altered cortical microtubule arrays. Abnormal cotyledon pavement cells with fewer extension lobes and shorter cell length
Leads to yeast-locked cells
Early flowering and shorter vegetative and reproductive phases, with more branched roots and inflorescences (PubMed:16636050). Early senescence (PubMed:16636050). Hypersensitivity to light (PubMed:16636050). Enhanced susceptibility to B.cinerea and permissive fungal growth (PubMed:16636050, PubMed:26739014)
Suppression of cell fusion
No visible phenotype. Defection in sporogenous cell formation in adaxial anther lobes when associated with the disruption of GRXC7/ROXY1 leading to fertility defects
Pigment deficiency and seedling lethality
Cells lacking this gene entirely lose the ability to produce bacilysocin and display a 10-fold reduction in the ability to form spores
Embryos homozygous for a null allele of the gene are viable and do not display gross developmental defects, developing to adult stage, albeit with a slightly decreased viability (PubMed:20805893). Homozygous females are sterile, laying rare embryos that display no sign of development (PubMed:20805893). Mutant flies display increased lethality at extreme temperatures (PubMed:20805893)
Mutants display reduced growth, are female sterile and lack active complex III
Impaired in the 1-aminocyclopropane-1-carboxylic acid (ACC)-mediated reversion of the ABA-induced inhibition of seed germination
Does not affect the production of viriditoxin
Disruption of this gene completely abolishes the presence of m(5)s(2)U in tRNAs, although its precursor, 5-methyluridine (ribothymidine) is present; other nucleoside modifications remain unchanged. These deletion mutants exhibit a temperature-sensitive phenotype, they are unable to grow above 80 degrees Celsius
Leads to the accumulation of stipitaldehydic acid (PubMed:24863423)
Mice develop normally without obvious somatic defects but males and females are sterile due to meiotic disruption in meiocytes. Homozygous mutants display small gonads and females have few or no follicles, due to oocyte elimination between pachynema and dictyate. Mutant testes display reduced populated tubules and spermatogenesis is mainly arrested at spermatocyte stages of epithelial stage IV, corresponding to pachynema. Different phenotypes are observed in the different knockout experiments tested. In Trip13(RRB047) mutant mice, also named Trip13(mod) allele for moderate, the number of crossovers are not affected and meiocytes undergo homologous chromosome synapsis despide the presence of unrepaired DSBs in pachynema. Using a more severe mutant allele, named Trip13(sev) for severe, additional defects are observed: the numbers of crossovers and chiasmata are reduced in the absence of TRIP13, and their distribution along the chromosomes is altered (PubMed:20711356). Autosomal bivalents in meiocytes frequently display pericentric synaptic forks and other defects (PubMed:20711356). Recombination defects are evident very early in meiotic prophase, soon after DSB formation (PubMed:20711356). These results suggest that the absence of defects in the number of crossovers observed in Trip13(RRB047) mutant is due to the use of a weak hypomorphic mutant allele
Deletion abrogates the secretion of EsxA and EsxC into the extracellular medium
Not essential for growth in the absence of DNA damage. 500-fold less efficient for NHEJ on blunt-ended or 5'overhang DSBs, 4-fold less efficient in repair of 3'-overhang DSBs. The fidelity of DNA repair depends on the form of the DSB; for blunt-ends fidelity is very low, and no longer entails nucleotide insertion, for 5'-overhangs remains 50% faithful but with very little nucleotide insertion, for 3'-overhangs repair is fully faithful. 1000-fold decrease in viability when exposed to ionizing radiation in late and stationary phase; not exacerbated by a double ligD-ku deletion. Decreased resistance to desiccation-induced DSBs. Loss of NHEJ on incompatible 3'-chromosomal overhangs, no effect on single-strand annealing of DSB repair, increase in homologous recombination
Reduced number of tillers and panicles
Hyponastic leaves and reduced growth (PubMed:24285797). Severely reduced catalase activities (PubMed:24285797). Hypersensitivity to multiple abiotic stresses (PubMed:25700484)
Mutants exhibit 15% slower rate of nitrate reduction compared to mutants for other genes in the NAP operon. Mutants can grow on nitrate to maximum cell density earlier than wild-type. Nitrite is not detected in mutant strains but ammonium reaches detectable levels sooner than in wild-type and accumulates to same level as in wild-type. Double mutants with deletions of both NapA and NapB fail to grow on nitrate or reduce nitrate under anaerobic conditions. Double mutants for both NapB and NrfA reduces nitrate as fast as wild-type
Mutant defective in both purN and purT requires an exogenous purine source for growth
The Rv2743c-Rv2742c double mutation reduces intracellular ATP levels under surface-stress conditions to less than 60% of wild-type levels (PubMed:25899163). Inactivation of Rv2743c reduces mprA and sigB expression to 20% and 10% of wild-type levels, respectively, after treatment with SDS (PubMed:25899163). Inactivation increases M.tuberculosis susceptibility to the intramacrophage environment (PubMed:25899163)
Blocks propionyl-CoA utilization, as well as growth on propionate. Impairs production of several polyketides such as sterigmatocystin
Eef1akmt4-Ece2 and Ece2 double mutant mice are fertile and healthy, and do not display any abnormality in terms of growth or aging
Loss of DMSP demethylation to MMPA. 25-fold increased sensitivity to acrylate, growth is strongly inhibited by 20 mM dimethylsulfonioproprionate (DMSP). Disruption of this gene has a polar effect on acuI, the downstream gene, which accounts for the increased sensitivity. Dimethyl sulfide (DMS) production is enhanced
Cells lacking thrB are still able to grow in a minimal medium without the addition of threonine
At 10.5 dpc, knockout embryo exhibit normal heart development (PubMed:12750314). Adults show attenuated phenotype during calcineurin-induced cardiac hypertrophy compared to wild-type littermates (PubMed:12370307). Simultaneous knockout of NFATC3 and NFATC4 results in embryonic death soon after 10.5 dpc. Embryos appear normal at 9.5 dpc. At 10.5 dpc, they exhibit defects in cardiac development, including dilated thin translucent hearts, pericardial effusion and anemia. Despite a mild generalized developmental delay, the heads, tails, and limb buds are well developed. By 11.5 dpc, mutant embryos are either necrotic or resorbed (PubMed:12750314)
Smaller root meristem size and fewer root meristematic cortex cells, associated with shorter roots and a slighty reduced sensitivity to RGF1 (PubMed:27229311). Insensitivity of pollen tubes to CLE43 and, partially, to CLE45 peptides-mediated growth stimulation (PubMed:23910659). Pollen tubes of plants missing both SKM1 and SKM2 are fully insensitive to CLE45 peptides (PubMed:23910659). Quintuple mutants rgi1 rgi2 rgi3 rgi4 rgi5 display a consistent short primary root phenotype with a small size of meristem associated with a total insensitivity to RGF1 and undetectable levels of PLT1 and PLT2 (PubMed:27229312)
Knockout mice are generally phenotypically normal, viable, and fertile (PubMed:19386896). Normal overall retina structure and morphology of the outer plexiform layer (OPL) and inner plexiform layer (IPL) (PubMed:19386896). Abundance and distribution of synaptic proteins remain consistent (PubMed:19386896). Reduced inner retinal processing and retinal synaptic transmission at low light intensities (PubMed:19386896). Cplx3 and Cplx4 double knockout mice are generally phenotypically normal, viable, and fertile, however show disordered morphology of the OPL and vision perturbation when compared to single knockout mice (PubMed:19386896). Cplx3 and Cplx4 double knockout mice show evidence of mild vision perturbation, with a reduction in the number of morphologically normal anchored presynaptic ribbon synapses and a decrease in controlled neurotransmitter release at photoreceptor ribbon synapses (PubMed:19386896). Cplx3 and Cplx4 double knockout mice show a reduced response and sensitivity of ON and OFF ganglion cell response as a result of disrupted synaptic transmission (PubMed:22694764). Cplx3 and Cplx4 double knockout mice show a greater variance in photoreceptor activity response and a decrease in sustained response, this is caused by an increase in release and fusion of synaptic vesicles in an asynchronous manner, this is particularly evident following multiple stimuli (PubMed:27335398)
Causes defects in hyphal development, reduced resistance to osmotic and oxidative stress, and severe virulence attenuation in the mouse model of disseminated candidiasis
Impaired light-induced stomatal opening
Early flowering phenotype under long-day conditions. Hypersensitivity to cold
Mutants show a severe growth impairment under nitrosative and oxidative stress conditions. Mutation increases the sensitivity of the bacterium to iron starvation, increases the intracellular levels of free iron, and decreases the activity of several iron-sulfur-containing proteins
Increases the sensitivity to osmotic and oxidative stresses as well as to cell wall damaging agents (PubMed:26878695). Affects virulence when mpkC is also deleted (PubMed:26878695). The single sakA deletion decreases mpkA phosphorylation and the double sakA/mpkC deletion abolishes mpkA phosphorylation (PubMed:26878695)
The mature pollen grains are arranged in a tetrad
No visible phenotype under normal growth conditions, but during infection with virulent strain of P.syringae, mutant plants have reduced levels of SA and camalexin, and show increased susceptibility to pathogen. Leaves show decreased ethylene-induced senescence
Adults are infertile
Moesin-deficient mice exhibit no obvious abnormalities in appearance or fertility, but display altered humoral immune responses
Leads to the inability to use nicotinate, 6-OH nicotinic acid, and 2,5-dihydroxypyridine as sole nitrogen sources (PubMed:29212709)
Grows readily on glucose and maltotriose, but is not able to grow on glycogen. Deletion mutant is still able to depolymerize glycogen to some extent resulting in alpha-glucooligosaccharides increasing in size from maltotetraose to maltooctaose and larger oligosaccharides. In contrast to the wild-type cells, which almost completely deplete alpha-glucooligosaccharides up to eight glucose units in length, only partially deplete oligosaccharides of 9-11 glucose units in length and which have little to no ability to deplete oligosaccharides longer than 11 glucose units in length, the most abundant alpha-glucooligosaccharides produced by the deletion mutant are maltopentaose, maltohexaose, and maltoheptaose
Impaired spermatogenesis. Mutant animals have smaller cerebellums with disruption of lobes VI-VII. They exhibit a delay in monolayer maturation of dysmorphic calbindin 28K-positive Purkinje cells 7 days after birth. Deficiencies in acoustic startle response, prepulse startle inhibition, and social interactions were observed. Also responses to novel environmental situations are inhibited. NR2C1 and NR2C2 double knockout results in embryonic lethality around 7.5 dpc and increased apoptosis
Mice do not show obvious abnormalities, but are more susceptible to infection by Toxoplasma gondii (PubMed:10639151, PubMed:11500431). In contrast, normal clearance of Listeria monocytogenes and cytomegalovirus infections is observed (PubMed:10639151). Macrophages from knockout mice show impaired envelopment of parasites in autophagosome-like vacuoles (PubMed:16940170). Mice lacking both Irgm1 and Igtp/Irgm3 display resistance to Mycobacterium tuberculosis infection compared to Irgm1 mice that are highly susceptible to infection (PubMed:36629440). Mice lacking Irgm1, Irgm2 and Igtp/Irgm3 (panIrgm mice) show resistance against M.tuberculosis one month post-infection; then, panIrgm mice display higher bacterial burden and altered cytokine during late stage of infection, leading to increased mortality (PubMed:36629440)
Leads to pigmentation and sporulation defects (PubMed:18952140). Drastically reduces expression of the penicillin biosynthetic genes pcbAB, pcbC and penDE (PubMed:20543063, PubMed:23089625, PubMed:23264641). Leads to a severe impairment in conidiophore formation under both light and dark conditions (PubMed:20543063, PubMed:23264641). Decreases the expression of the class V chitinase chiB1 (PubMed:21816879). Decreases the expression of the transcription factor atfA (PubMed:25557366)
RNAi-mediated knockdown in the central nervous system (CNS) during development increases the expression of CaBP1, Calr and ERp60 and regulates expression of other genes involved in a variety of processes including oxidative phosphorylation and redox reactions, lipid and sugar homeostasis, and translation. It increases susceptibility to starvation but has no effect on feeding behavior. It increases triacylglyceride (TAG) levels in normal-fed flies but has no effect on TAG levels 12 or 24 hours after starvation. It also induces a heightened startle-response, increases hyperactivity and reduces sleep. RNAi-mediated knockdown specifically in dopaminergic neurons throughout development influences the expression of genes involved in dopamine signaling by increasing expression of ple and Vmat and decreasing expression of DAT. It also recapitulates the effects seen following CNS knockdown, namely increased susceptibility to starvation, heightened startle-response and reduced sleep. RNAi-mediated knockdown specifically in the adult CNS increases resistance to starvation with no effect on feeding behavior, decreases TAG levels in normal-fed flies and has no effect on hyperactivity or sleep
Morpholino knockdown of the protein in the embryo causes pronephric cyst formation and laterality defects, including reversed heart looping
Leads to complete absence of citrinin production and the accumulation of a keto-aldehyde intermediate at the same retention time which is distinguishable by its UV and mass spectra (Ref.1)
During aerobic growth in culture grows more slowly over the whole life cycle, a 2X reduced ratio of NAD(+)/NADH (reflects redox metabolism) and a 1.5X reduction in membrane potential. Has increased resistance to oxidative stress. Enhanced growth in uninduced and activated macrophages, as well as enhanced growth at reduced O(2) tension. However reduced survival in guinea pig spleen but not lungs following aerosol infection. A number of genes are induced, including whiB4, whiB6, genes involved in antioxidant systems, redox factor PQQ and several members of the PE-PPE family
No visible phenotype. Kin12a and kin12b double mutant display defective pollen grains leading to the production of fewer seeds
Plants have larger stomatal aperture and increased drought susceptibility, but are not affected by the ABA signal transduction pathway
Significantly increase of stride length and extension movements in all limbs. Mice have major difficulties running at higher velocities. In water, mice spend less time swimming and showed frequent twitching limb movements
Not essential, no change in sensitivity to reductant (beta-mercaptoethanol), may not play a role in cytochrome bd-I oxidase
No visible phenotype. More susceptible to the oomycete pathogen H.arabidopsidis (Hpa) infection
Cells display a 5-fold increase of the ica transcription but has no significant effect on the adherence ability nor on the amount of poly-N-acetylglucosamine polysaccharide (PNAG) produced with respect to the wild-type strain. Double deletion of icaR and tcaR increases ica transcription about 500-fold, and poly-N-acetylglucosamine polysaccharide (PNAG) synthesis about 100-fold. Adherence is significantly greater than that of the single icaR mutant
No visible phenotype when grown under normal conditions. No proline hypersensitivity
Impaired activation of NF-kappa-B downstream of T-cell receptor (TCR), leading to defects in interleukin-2 (IL2) production
No visible phenotype under normal growth conditions, but when grown at 16 degrees Celsius, seedlings grow slowly and root tip cells form incomplete or twisted cell plates
Cells lacking this gene accumulate DHNA-CoA, lack phylloquinone, and display photosensitivity to high light intensities
Slight decrease (30 percent) of LHCA2 levels (at protein level)
Liver-specific Sesn3 knockout mice display insulin resistance and glucose intolerance (PubMed:25377878). Sesn2 and Sesn3 double knockout mice display insulin resistance and glucose intolerance (PubMed:22958918). Triple knockout mice lacking Sesn1, Sesn2 and Sesn3 do not display an embryonic lethal phenotype since they are born at an expected Mendelian ratio. Moreover, they are not distinguishable from their wild-type littermate. However, their survival at 10 days is dramatically affected. This is associated with a constitutive activation of TORC1 signaling in the liver, heart and skeletal muscle during postnatal fasting, that occurs between birth and suckling (PubMed:25259925)
Knockout mice exhibit a range of subtle behavioral abnormalities. Locomotor activity is generally increased, but only in familiar environments. There is a slight increase in depression-like behavior, most notably increased immobility in the tail suspension test. Assays of anxiety-like behavior give conflicting results; the open field test indicates a slight reduction in anxiety-like behavior whereas other tests show no significant behavioral changes (PubMed:23300874). Knockout mice are hyposensitive to noxious mechanical stimuli applied to the tail and hypersensitive to noxious heat (PubMed:29253101)
Animals are viable, but produce a reduced brood size, have a prolonged defecation cycle and a reduced pharyngeal pumping rate as compared to wild-type (PubMed:21191812). Reduced male fertility which may be due to irregular male mating behavior and defective sperm function (PubMed:21191812). Reduced cell surface abundance of the L-type egl-19 calcium channel in body wall muscles, which results in a 20% decrease in Ca(2+) current density (PubMed:28477407). In response to the nicotinic acetylcholine agonist levamisole, there is reduced expression of genes such as gem-4 (PubMed:28477407). Irregular postsynaptic transmission at neuromuscular junctions characterized by larger stimulus-evoked excitatory postsynaptic currents as compared to wild-type (PubMed:28477407). RNAi-mediated knockdown results in viable animals with no visible phenotype (PubMed:15013747). However, there is a slight reduction in brood size, but there are no visible defects in terms of embryonic viability, growth or morphology in their resulting progeny (PubMed:15013747). RNAi-mediated knockdown in an itr-1(sa73) loss of function mutant background results in a longer defecation cycle as compared to the itr-1 single mutant (PubMed:15013747)
Mice are normal but males are sterile due to defects in spermatogenesis
Intestine-specific knockout leads to premature lethality between the age of 6 and 10 weeks in around two-thirds of mice due to acute peritonitis (PubMed:23104561). Growth retardation, decreased bone density of the femoral and humoral head, decreased bone length of the pelvic, tibial, and femoral bones, lethargic behavior, hunched back posture, and decreased biotin status are observed (PubMed:23104561). Abnormalities in the small bowel with shortened villi and dysplasia, chronic active inflammation with focal cryptitis/crypt abscesses in the cecum, an increase in the number of neutrophils in the mucosa and low-grade adenomatous changes and extensive submucosal edema (PubMed:23104561). Impaired carrier-mediated biotin and pantothenate uptake in the jejunum (PubMed:23104561). Reduced biotin levels in the liver (PubMed:23104561). Increase in gut permeability and changes in the level of expression of tight junction proteins in the cecum and colon (PubMed:27492331)
Knockout adult liver results in hepatosteatosis and disruption of liver homeostasis
No visible phenotype under normal growth conditions, but mutant plants have enhanced sensitivity to salt stress
Knockout mice show defective spermatogenesis. On histological sections, testes display an abnormal architecture and considerably narrower seminiferous tubules than those of wild-type mice, accompanied by changes in heterochromatin structure and globally altered gene expression in germ cells, and depletion of the most differentiated germ cell types
Mutant fails to produce any detectable AHL signals and is impaired in biofilm development
Plants have normal abscisic acid (ABA) levels, normal germination and are not affected in abscisic aldehyde oxidase activity in siliques, dry seeds and leaves. Reduced levels of benzoic acid (BA), 3-benzoyloxypropylglucosinolate and 4-benzoyloxybutylglucosinolate in seeds. Senesced siliques accumulate high endogenous reactive carbonyl species (RCS) levels associated with enhanced senescence molecular markers, have an increased chlorophyll degradation, and exhibit early seed shattering. Severe tissue damage and enhanced malondialdehyde levels and senescence symptoms in siliques treated with several aldehydes. Increased endogenous reactive carbonyl species (RCS) and higher expression levels of senescence marker genes, leading to premature siliques senescence in response to abiotic stresses such as dark and ultraviolet C irradiation (PubMed:28188272)
Leads to significant increase in growth (PubMed:16278459). Abolishes the production of fusarielins F, G and H (PubMed:22252016, PubMed:27983606)
Deformations and branching of pollen tubes grown in pistils
No visible phenotype under normal growth conditions, but mutant plants have decreased endogenous levels of NAD and NADP and display abnormal hypersensitivity to exogenous treatment with abscisic acid (ABA) and sodium chloride (NaCl)
Mice develop spontaneous tumors, including lymphomas and carcinomas at high rates
Deletion of the gene results in complete loss of the ho5C2501 modification
Does not affect the susceptibility to azoles (PubMed:9593144). Leads to hypersensitivity to cyclosporin A (CsA) and FK506, inhibitors of the protein phosphatase calcineurin (PubMed:11847103)
Embryonically lethal. At 9 dpc, embryos are smaller, and their development is delayed (PubMed:12640454). At 10-11 dpc, the development is arrested with signs of resorption (PubMed:12640454). Heterozygous mice have lower catalytic activity towards the synthetic compound phenyl valerate in the brain and show increased motor activity (PubMed:12640454)
Cells overexpress discoidin and initiate multicellular development prematurely
Cells lacking this gene require menaquinone-4 (MK 4) for their growth, and accumulate cyclic DHFL
Embryonic lethality caused by genomic instability (PubMed:25501849). Cells display impaired lesion bypass, incomplete DNA replication, formation of micronuclei and chromatin bridges and eventually cell death (PubMed:25501849). Cells show an accumulation of DNA-protein cross-links (DPCs) (PubMed:28199696). Sprtn-haploinsufficient mice are viable but show accelerated aging, characterized by cataracts, lordokyphosis and cachexia at a young age (PubMed:25501849)
Normal asexual development in host erythrocytes; however merozoite egress from erythrocyte is impaired (PubMed:29074774). Erythrocyte invasion by the few newly released merozoites is severly impaired (PubMed:29074774). Impaired SUB1 proteolytic processing (PubMed:29074774)
Displays 7-10 fold higher levels of phosphatidylglycerophosphate (PGP) than wild-type. Simultaneous deletion of pgpA and pgpB leads to 40 times higher PGP levels compared to wild-type, while simultaneous deletion of pgpA and pgpC leads to almost 100 times higher PGP levels. Lethal when combined with the deletion of both pgpB and pgpC
Impairs the production of cyclopiazonic acid, but accumulates its biosynthetic intermediates cyclo-acetoacetyl-L-tryptophan and beta-cyclopiazonic acid
Decreased root hair length under phosphate deficiency
Reduced root hair length
Non-essential, it can be deleted on rich medium; the gene for the antisense antitoxin SR5 RNA can also be deleted without a visible phenotype
Impaired motor neuron outgrowth, leading to decreased mobility and shorter lifespan (PubMed:31203368). Axon lengths is significantly shorter in motor neurons (PubMed:30929741, PubMed:31203368)
CCDC47 knockout leads to embryonic lethality at mid-gestation, between 10.5 and 11.5 dpc. Mutant embryos at 8.5-10.5 dpc reveal several anomalies including vascular abnormalities in yolk sacs, developmental retardation, atrophic neural tubes, dilated left ventricles, poorly developed myocardium, and paucity of blood cells in the dorsal aorta. Yolk sac endoderm cells show alterations associated with endoplasmic reticulum stress, including lipid droplet accumulation, endoplasmic reticulum fragmentation and dissociation of ribosomes
Abolishes the production of terreic acid, but accumulates terremutin (PubMed:25265334)
Loss of monomethylated, an increase of dimethylated and a decrease of trimethylated 'Lys-4' histone H3, and defects in epigenetic silencing
Morpholino knockdown results in defects in eye development, reduced expression of early eye marker genes rax, tbx3, six3 and pax6 and reduction of cell density at the neurula stage. Co-knockdown of nemp1a and ran elicits reduction of cell density and eye defects more significantly than the individual knockdown of either one
Knockout mice show altered monoamine neurotransmission in the brain, with decreased intracellular content and increased turnover of aminergic transmitters. Knockout mice show subtle alterations in behaviors such as increased sensitivity to psychostimulants and increased levels of anxiety and stress (PubMed:18513366). Also exhibit impaired removal of the excess extracellular dopamine induced by methamphetamine and increased striatal dopaminergic terminal damage caused by this psychostimulant (PubMed:19416912)
Leads to a reduction of virulence on soybean
Increased water use efficiency (PubMed:12943546). Low phytic acid levels in seed tissue (PubMed:19797057)
Blocks the adhesion of conidia to locust cuticle or fly wings (PubMed:17337634). Significantly reduces the virulence (PubMed:17337634). Delays spore germination and results in large multicellular hyphal bodies via interfering with the organization of the cytoskeleton (PubMed:17337634)
Abnormal organs elongation leading to long inflorescences, leaves and petioles, especially in the light
Mutants show delayed replication restart after exposition to UV
Ookinete formation and differentiation is reduced by 55-60%; the few ookinetes that differentiate have normal gliding motility (PubMed:23434509). In infected S.stephensi mosquitos, no oocysts are formed in the midgut (PubMed:23434509). However, ookinetes injected directly into the hemocoel produce viable sporozoites that are able to infect mice (PubMed:23434509). In infected A.gambiae L3-5 mosquitos, slight reduction in ookinete melanization indicating that the ookinete cross the midgut epithelium but fail to form oocysts (PubMed:23434509). Ookinetes have a reduction in the number of apical micronemes and micronemal gene expression of CTRP and SOAP is down-regulated (PubMed:23434509). Also, in ookinetes, mRNA expression of female nek4 is reduced (PubMed:23434509). Male gametocyte exflagellation is normal (PubMed:23434509)
Male mice are infertile with spermiogenic arrest and impaired differentiation of round spermatids into the mature spermatozoa
Moderate increase in constitutive dauer larva formation at 27 degrees Celsius. Increases constitutive dauer larva formation at 25 degrees Celsius in akt-1 mg306, age-1 hx546 or pdk-1 sa709 mutant backgrounds. Normal lifespan
Has normal vegetative growth, inflorescence and flower morphology, however has smaller anthers and does not produce mature pollen grains during reproductive stage. After stage 6, during which anther forms four somatic layers, the three inner anther wall layers remain undifferentiated. Meiosis progresses normally from leptotene stage to metaphase I, but is arrasted at anaphase I and no cytokinesis occurs at prophase II, resulting in degenerated meiocytes
Cells lacking this gene express the exu locus genes (required for hexuronate utilization) constitutively. Its absence additionally confers the ability to grow on minimal medium plus glucuronate, which cells cannot do in the presence of ExuR
Embryonically lethal. Homozygous animals produced by heterozygous hermaphrodites overcome this through maternal contribution. In these animals, defects in the formation of the vulva, uterus, and uterine seam cells and in development and maintenance of the somatic gonad and thus the germ line appear in the early L3 larval stage. Adults are sterile. Cells display mitotic defects, including impaired nuclear envelope formation and baf-1 delocalization
General developmental defects, including apoptosis in the central nervous system and a dorsally curved tail, which appear by 28 hpf. Effects are due to general cell cycle defects, including defects in the G2/M checkpoint
Impairs the production of fumigermin triggered by Streptomyces rapamycinicus during the bacterial-fungal interaction
Small chloroplast and strong decrease in chlorophyll content. Defect in the accumulation of photosystem protein complexes. Defect in the accumulation of TOC34, an essential component of the outer chloroplast membrane translocon (TOC) complex, which, in turn, catalyzes the import of nucleus-encoded precursor polypeptides into the chloroplast
Leads to increased caspofungin sensitivity
RNAi-mediated knockdown suppresses lifespan reduction caused by infection by the Gram-negative bacterium P.aeruginosa when combined with simultaneous knockdown of nipi-3 (PubMed:27927200). Knockdown reduces survival due to infection by the Gram-negative bacterium P.aeruginosa in a valine--tRNA ligase glp-4 mutant background (PubMed:28662060)
Simultaneous RNAi-mediated knockdown of CotH2 and CotH3 decreases invasion of host epithelial cells (PubMed:24355926). Simultaneous RNAi-mediated knockdown of CotH2 and CotH3 decreases virulence in a mouse model of ketoacidosis (PubMed:24355926, PubMed:27159390). Simultaneous RNAi-mediated knockdown of CotH2 and CotH3 does not lead to sensitivity to cell wall stress (induced by Congo Red, Calcofluor White, hydrogen peroxide, sodium dodecyl sulfate, or Triton X-100) (PubMed:24355926)
Lower reactive oxygen species formation and altered phenotype (e.g. growth rate, root:shoot ratios and leaf area). Lower leaf area early in development followed by a prompt subsequent increase in leaf area leading to larger leaves in mature plants. Better tolerance to salinity stress. These phenotypes are probably due to an enhanced expression of NDB2 and AOX
Increased photosensitivity to high light
No longer processes msDNA correctly (when retron Ec78 or Ec83 are expressed in the strain)
No changes in biofilm formation, persister cell formation or bacteriophage resistance; no visible phenotype for a double timR-timP deletion. A timR deletion leads to mild envelope stress
Morpholino knockdown in the embryo results in an abnormal cell cycle progression, formation of polyploidy and aberrant chromatin structures (PubMed:23187801). Consequently, the morphants have disordered eye cell layers and significantly smaller eyes compared to the wild-type counterpart (PubMed:23187801)
EF-P proteins in the mutant strain displays a modification of +128 Da, whereas a modification of +144 Da is observed in wild-type strains. Cells lack CadA activity (lysine decarboxylase)
The Rv2743c-Rv2742c double mutation reduces intracellular ATP levels under surface-stress conditions to less than 60% of wild-type levels
Embryonic lethality due to impaired fertilization. The pollen tube fails to arrest and continues to grow inside the female gametophyte. Disturbed MLO7 relocalization to the filiform apparatus upon pollen tube arrival at the micropyle. Severe cell elongation defect in RNAi mutants with decreased FER expression. In fer-2 seedlings, altered responsiveness to brassinosteroids but increased ethylene response during the regulation of hypocotyl elongation. Increased resistance to powdery mildew (e.g. Golovinomyces orontii). Abscisic acid- (ABA)- hypersensitive response. Longer roots. Insensitivity to RALF1-mediated root-growth inbibition but hypersensitive to cation lithium inhibition
Flies exhibit disruption of the formation of commissural pathways and shows delays the completion of longitudinal pathfinding. The disruption in commissure formation is accompanied by reduced axon-glial contact, such that extending axons grow on other axons and form a tightly fasciculated bundle that arches over the midline
Mutant male fertility is significantly impaired compared with that of the controls (PubMed:34714330). Spermatozoa from mutant mice showed abnormal head shapes with an abnormal acrosome morphology (PubMed:34714330)
Reduced viability, increased rad-51 foci in the germline and an increase of meiotic crossover formation in the central region of chromosomes (PubMed:27010650). Reduced number of rmh-1 foci in the pachytene region (PubMed:27011106). In an smc-5 mutant background, defects in diakinetic chiasmata formation, compromised chromosome segregation and aberrant distribution of the condensin II subunit hcp-6 in meiosis (PubMed:27010650)
Impairs the production of trihydroxy confertifolin and deacetyl astellolides A and B
Lethal when associated with CSP41B disruption
Decreases virulence in mouse intranasal and intravenous model for infection (PubMed:29233914). Sensitive to: high temperature; sodium dodecyl sulfate (cell wall stress inducer); Congo Red (cell wall stress inducer); dithiothreitol; Calcofluor White; salt stress (induced by KCl) (PubMed:29233914). Simultaneous disruption of CRZ1 results in phenotypic enhancement (PubMed:29233914)
Spontaneous cell death phenotype under short-day conditions
Loss of DNA conjugation when disrupted in recipient strain, no effect when disrupted in donor strain (PubMed:18554329). The recipient strain secretes reduced amounts of EsxB (PubMed:18554329). Disruption of the probable saeA-saeB-saeC operon completely blocks polar localization of EccCb1 (PubMed:22233444)
Cells are impaired in growth on synthetic complete medium with acetate as a carbon source due to defects in mitochondrial [4Fe-4S] cluster formation
Retarded growth of the primary root, and partial sterility with aborted and short siliques (PubMed:18950478). Late flowering under long-day conditions (PubMed:18950478, PubMed:28218997). The double mutants wox4 and wox14 exhibit reductions in vascular cell division (PubMed:23578929)
Growth retardation, reduced rosette size, slightly pale color and early flowering. Deficiency in eukaryotic thylakoid galactolipids and accumulation of trigalactosyldiacylglycerol (TGDG) and phosphatidylcholine (PC). Changed fatty acid profile in leaves with a substential increase in 16:0, 18:1 and 18:2 at the expense of 16:3 and 18:3
No visible phenotype. RuBisCO content only slightly reduced
Disruption mutant does not produce chloramphenicol. Mutant does not accumulate 4-amino-L-phenylalanine
Animals develop with normal speed and go normally through the molt. They stop feeding for a normal time before each molt, but average nose speed is reduced by only about 10% and unlike wild-type, they are never immobile. The command interneurons AVA and AVE, which control backward movement, are not shut down during sleep-like behavior. Optogenetic channelrhodopsin activation of AIBs, RIBs and RIS interneurons during wake-like behavior using blue light does not trigger acute immobility and cessation of pumping in L1 larvae, instead it causes an increase in mobility (PubMed:24184105). No change in GABAergic function of neurons as unc-25 and the vesicular GABA transporter gene unc-47 are expressed normally. The expression of a neuropeptide gene flp-11 is strongly down-regulated in pretzel-stage embryos and in sleeping L4 larvae (PubMed:26949257)
Mutant worms are similar in size to the wild-type but animals are bloated with eggs due to defective egg laying with decreased body flexion and sluggish locomotion (PubMed:10571227, PubMed:10571228). They have defects in the posterior body contraction step of the defecation motor program and become sluggish in the presence of exogenous betaine (PubMed:24212673). Animals are resistant to aldicarb, a carbamate insecticide (PubMed:10571228). Simultaneous knockout of egl-8 and snf-3 results in uncoordinated, hypercontracted and paralyzed animals (PubMed:24212673). RNAi-mediated knockdown causes a defect in sperm transfer and a slight defect in spicule protrusion resulting in male infertility (PubMed:15958491). Ca(2+) transient increase and avoidance behavior are defective in response to nose touch but not to benzaldehyde (PubMed:19730689). nlp-29 expression is abrogated following fungal infection by D.coniospora but not following physical injury (PubMed:19380113). Causes a 1.6 fold increase in embryonic arrest in a plc-1 (tm753) mutant background (PubMed:18369461)
Mice exhibit synaptic hearing impairment and impaired auditory brainstem responses. Enhanced inactivation of Ca(2+) influx in inner hair cells (IHCs), whereas its amplitude and voltage dependence of activation is normal. Reduced normal spontaneous and sound-evoked firing of spiral ganglion neurons (SGNs) seen (PubMed:28183797). Mice exhibit normal retinal morphology but altered light responses of retinal ganglion cells (PubMed:27822497)
Disruption of the gene leads to strong reduction of aspartate uptake, but only marginally affects glutamate uptake
Increased size and extended lifespan (PubMed:11181837, PubMed:12571101, PubMed:18832350, PubMed:26434723). Defects in chemosensory behavior, egg-laying, synaptic transmission, and dauer formation (PubMed:11181837, PubMed:12571101, PubMed:18832350, PubMed:26434723). Impaired movement of adult animals in response to sensory stimuli (PubMed:10978280). Loss of adaptive behavior to long lasting exposure to attractive odorants (PubMed:20220099). Normal initial chemotaxis response during a first and short exposure to attractive odorants (PubMed:20220099). Loss of chemotaxis response to the repellent odor 2-nonanone (PubMed:23954825). Defective chemotaxis in response to diacetyl and isoamylalcohol (PubMed:26434723). High sensitivity to benzaldehyde, which is retained following pre-exposure in contrast to wild-type animals (PubMed:26434723). Increased basal cGMP levels (PubMed:24015261)
Accumulation of upstream metabolites, such as codeine, thebaine, codeinone and neopine, but reduced production of morphine and oripavine (PubMed:29779229, PubMed:22098111). Lower levels of sanguinarine and 1-benzylisoquinoline laudanosine and, to some extent, of noscapine and papaverine in roots but increased accumulation of the protopine alkaloids cryptopine, protopine, O-demethylcryptopine and allocryptopine, and of the protoberberines sinactine, N-methystylopine, N-methylcanadine and rhoeadine N-methylporphyroxine (PubMed:23928311)
Mutants are hypersensitive to pheromone induction and form dauers more readily than the wild-type
Mice are born at the expected Mendelian rate, are viable and fertile. Their brains appear grossly normal. Mutant mice show reduced spontaneous locomotion activity, but have no visible impairment of motor skills. They have normal exploratory behavior, but their behavior in a new situation suggests increased novelty preference
Does not alter the amount of produced r-N-DMAT
Plants are smaller
Pale yellow-green leaf phenotype. Reduced levels of plastid ribosomes and defects in plastid mRNA metabolism
Reduces growth on birchwod xylan, while growth is unaffected on D-xylose, xylitol and other carbon sources like D-glucose, L-arabinose or L-arabitol
Leads to the production of pneumocandin analogs with 3S-hydroxyl-L-homotyrosine (PubMed:25879325)
Mice rarely develop beyond 15 somites, have a reduced head, fail to undergo turning and die at midgestation
Homozygous knockout mice for Abcb6 gene appear phenotypically normal (PubMed:22294697). In a ferrochelatase-deficient mouse model where Abcb6 has been homozygously disrupted, mice exacerbate porphyria phenotypes shown by increased porphyrin accumulation, and marked liver injury (PubMed:27507172)
Increased susceptibility to carcinogen-induced gastric cancer. This increase is seen both in homozygous knockout mice and in heterozygous mice missing only one copy of the gene
Seedlings of the lacs6 and lacs7 double mutant were arrested in postgerminative growth due to inability to mobilize fatty acids for beta-oxidation, a necessary process to pursue the development
Very slightly decreased anaerobic growth in minimal medium with KNO(3) and glycerol
Abolishes the production of arthrobotrisins A to D and arthrosporol A, and leads to the accumulation of farnesyl hydroquinone, the first hybrid precursor for biosynthesis of SECs (PubMed:28692300, PubMed:33823587). Shows substantial reduction in conidiation (PubMed:33823587). Develops far more adhesive trapping devices and traps and increases the number of captured nematodes by the traps (PubMed:33823587). Shows significantly increased ammonia levels in fungal mycelia (PubMed:33823587)
Impairs ergosterol production and leads to increased susceptibility to terbinafine (PubMed:15845783). Leads also to susceptibility to polyenes, nystatin and amphotericin B (PubMed:15845783). Impairs the localization of the membrane-bound transporter CDR1 (PubMed:15845783). Reduces the formation of hyphae (PubMed:15845783)
Normal vegetative and floral organ development, but several defects in reproductive organs such as reduced pollen production due to abnormal microspore development, aborted seeds, reduced endosperm nuclei divisions, abnormal distribution of free nuclei missing an oriented positioning at the micropylar end of embryo sacs, and interrupted aleurone differentiation associated with unusual positional endosperm cell differentiation (PubMed:28585692). Disturbed embryos develop slowly, and they exhibit altered pattern formation, particularly the dorsal-ventral pattern and symmetry establishment, thus showing various morphological and structural dysplasias; these phenotypes are associated with missexpression pattern of related genes including derepression of CYP78A13/GE in the scutellar epithelium in an irregular and diffuse pattern, enhanced accumulation of MYB3/AL2, abnormal distribution of AL1 in both endosperm dorsal and ventral sites in the aleurone layer, but reduced levels of OSH1 in embryo indeterminate cells around the presumptive shoot apical meristem (SAM), decreased HAZ1 expression in the outermost cells during early embryogenesis, less MPK6 accumulation and lower levels of PNH1 in the L3 protoderm layer (PubMed:28585692). Impaired triggering of endosperm programmed cell death (PCD) (PubMed:28585692). Altered the central vacuole dynamics leading to disturbed pollen maturation and germination, thus ending in male sterility (PubMed:28585692, PubMed:29424430)
Dwarf plants with variable number of cotyledons, short petioles in leaves and impaired flowering (PubMed:18643975, PubMed:19000164). Defects in venation pattern in leaves (PubMed:18643975)
Viable and fertile with no overt disruption of metal homeostasis
Cells lacking this gene are incapable of producing either long-chain B-band O antigen (> or = 2 repeating units) or semi-rough LPS (lipid A-core + one O antigen repeat)
Conditional knockout mice lacking Atp6ap2 in glutamatergic neurons display increased spontaneous locomotor activity and altered fear memory; show abnormal number and morphology of synapses, presynaptic transmission and autophagy defects that lead to axonal and neuronal degeneration in the cortex and hippocampus (PubMed:26376863). Conditional knockout mice lacking Atp6ap2 in the liver display liver damage, hypoglycosylation of serum proteins and autophagy defects (PubMed:29127204, PubMed:26376863). Conditional knockout mice lacking Atp6ap2 in cortical neurons die around 4 weeks of age (PubMed:30985297). It is associated with a flattened forehead and deficits in neural cell generation and/or survival compared to controls. Mutant embryonic cortex shows reduced proliferation of progenitor neural cells with premature exit of the cell cycle, premature differentiation, and apoptosis. There is also evidence of lysosomal dysfunction, impaired protein degradation in autophagolysosomes, and dysregulation of the mTOR kinase pathway
Increases the amount of polyubiquitinated RNA polymerase II subunit RPO21
Defects in left-right asymmetry during embryogenesis, due to defects in ciliogenesis
RNAi-mediated knockdown causes abnormal accumulation of apoptotic cell corpses in early phagosomes in gonads
Triple mutations in the SEP1, SEP2 and SEP3 genes result in the replacement of the stamens and petals by sepals and of the carpels by a new mutant flower with sepaloid organs
Null mutation result in apparently normal offspring. No effect on early gonadal PGCs or gross abnormalities in the development of gametes. However, females display severely reduced fertility despite ovulation of normal numbers of oocytes. Null mutation resulted in preimplantation development failure. Embryos rarely reached the blastocyst stage
No visible phenotype under normal growth conditions, but mutant plants exhibit reduced sensitivity to abscisic acid (ABA) and glucose during seed germination and seedling stage (PubMed:22404835). Freshly harvested seeds of mutant plants exhibit increased seed dormancy (PubMed:23378449)
Lack of photosynthesis
Abnormal embryo and cotyledon development, and embryo lethality in some cases. When viable, plants are small, with abnormal leaf shape and vascular patterning, ectopic bract-like organs and greatly delayed flowering time and sterile flowers
Significant reduction in virulence when injected intravenously into C57BL/6 mice; no effect on intracellular growth of bacteria in infected cell lines (PubMed:8878044, PubMed:20855622, PubMed:23403554). Slightly reduced virulence when injected intravenously into BALB/c mice; no effect on intracellular growth of bacteria in infected cell lines (PubMed:8975898). Decreased bacterial spreading in polarized epithelial cells (human Caco-2 BBE1 cell line), decreased formation of host cell plasma membrane protusions, host cell junctions are not perturbed by bacteria (PubMed:19767742). Significantly increased production of cytokines, significantly increased recruitment of neutrophils to the peritoneum, after intraperitoneal injection into BALB/c mice (PubMed:20855622)
Impaired production of 2,3-DHBA sugar conjugates but accumulation of salicylic acid (SA) and its sugar conjugates. Precocious senescence. Enhanced expression of senescence-associated and defense-related genes
Heterogeneous population of chloroplasts with variable size and multiple division sites (PubMed:19135368, PubMed:23936263). Abnormal subplastidial localization of the key plastid division proteins FTSZ1 forming multiple rings (PubMed:29967285). Normal shape and number of etioplasts in cotyledons (PubMed:23936263). The double mutant mcd1 arc6 exhibits similar chloroplast defect than the single mutant arc6, including the abnormal localization of FTSZ1 to short filaments and dots within chloroplasts (PubMed:29967285)
When mntA-hepT is deleted, has a sight reduction in swimming motility. This gene cannot be deleted when the hepT gene is intact
Cells lacking this gene display a reduction in salicylic acid biosynthesis and a drastic decrease in production of mycobactin compared with the wild-type strain
Deletion mutant in PA14 strain displays an approximately 40-fold decrease in competitive index against PAO1 strain
Leads to defect in morphogenesis and reduced virulence
Cells lacking this gene show complete abolition of the synthesis of MK-9(II-H2) accompanied by accumulation of MK-9. They have similar growth rates than wild-type in both aerated and hypoxic culture conditions. However, despite having similar levels of adhesion and infection at the earliest time point, the survival of mutant bacilli in the macrophages is dramatically reduced
Adults produce fewer progeny (PubMed:29764939). Larvae display an increase in survival when fed a diet enriched with 3-chloro-L-tyrosine (Cl-Tyr), whereas survival is unaffected when fed a diet containing 3-iodo-L-tyrosine (I-Tyr) or 3-bromo-L-tyrosine (Br-Tyr) (PubMed:29764939). Adult survival is unaffected when fed a diet supplemented with halotyrosines (PubMed:29764939)
Impaired ozone-triggered rapid transient decrease (RTD) in stomatal conductance (PubMed:20128877). Impaired induction of MKKK18 activity after 90 minutes of abscisic acid (ABA) treatment (PubMed:26443375). Delayed CO(2)-mediated and darkness-induced and reduced abscisic acid (ABA)-triggered stomatal closure (PubMed:30361234)
Cells lacking this gene do not produce Gsp under anaerobic conditions. Cells lacking both this gene and glutaredoxin (grxA or grxB) become hypersensitive to H(2)O(2); they are even more susceptible to oxidative damage than the single mutant lacking glutaredoxin only
Worms are viable, fertile, and do not show any obvious anomaly
Knockout mice show reduced body weight, independent of changes in muscle weight (PubMed:12773574). Reduced slow and intermediate program type muscle fibers in the biceps, triceps and soleus (PubMed:12773574). Increased expression of fast program type muscle fibers in the soleus muscle (PubMed:12773574)
Mutant mice fail to produce small pre-B, B, and plasma cells and therefore lack any immunoglobulin in their serum owing to a complete arrest of B-cell development at an early stage
Male gametophytic lethality when homozygous. May be due to defect in pollen grain germination and pollen tube growth
Male mice are infertile and the size and weight of the testis is reduced by 40-60%. Spermiogenesis is interrupted after stage VII, with only a few late spermatids and a complete absence of spermatozoa in the seminiferous tubules. The number of apoptotic bodies is increased in the seminiferous tubules and in the epididymis, which also shows squamous metaplasia of the epididymal epithelium (PubMed:14673081). CD8(+) T-cells exhibit increased intracellular pH and enhanced cell proliferation and activation after CD3 stimulation (PubMed:24515893). Mice display osteopetrosis with osteoclasts showing abnormal differentiation and increased apoptosis (PubMed:18971331). Conditional knockout in osteoclasts (OCs) result in dysfunctional OCs which exhibit altered intracellular pH and actin cytoskeletal dynamics and an impaired bone resorption capacity owing to a dysregulation of calpain-dependent podosomal disassembly (PubMed:23341620)
No discernible vegetative or reproductive phenotypes except a slight reduction of both male and female transmission efficiency, but decreased leucine biosynthetic enzyme activities and lower free leucine concentrations (PubMed:19674406, PubMed:20840499). The double mutant ipmdh2 ipmdh3 is lethal in male gametophytes (small aborted pollen grains abnormal in cellular structure, and arrested in germination) and had reduced transmission through female gametophytes (slow embryo sacs development) (PubMed:20840499). In atimd1-1 and atipmdh1 mutants, reduced levels of methionine-derived glucosinolates (Met-GSLs) with long chains (C7-C8) and, to some extent, with short chains (C4-C6) (PubMed:19493961, PubMed:19674406, PubMed:21697089). Altered glucosinolate profile is restored by constructs expressing IPMDH2-L134F or IPMDH3-L133F mutants (PubMed:21697089)
Deletion mutant is unable to use D-erythronate as a carbon source
Mice are normal but males are sterile. Male sterility is due to defects in sperm motility unability to fertilize intact eggs. In mice lacking Catsper1, sperm lacks CatSper2 protein, while in mice lacking CatSper1, sperm lacks CatSper1 protein, suggesting that stable expression of CatSper1 protein requires CatSper2 and vice versa
Aberrant left-right patterning resulting in abnormal cardiac loops, including leftward and symmetric/midline loops
Mice exhibit reduced sperm motility because of an inflexible midpiece, leading to impaired male fertility (PubMed:34446558). Spata33 knockout in Sertoli cells and spermatogenic cells suppresses mitophagy (PubMed:33087875)
Reduced homogalacturonan pectins (HG) methylesterification in cell walls (PubMed:21422118). Plants lacking both CGR2 and CGR3 (cgr2-1 cgr3-1) exihibit severe defects in plant growth and development (e.g. shorter hypocotyl and primary root length due to reduced cell elongation, and abnormal pollen tube elongation), as well as reduced levels of pectin methylesterification associated with decreased microsomal pectin methyltransferase activity. The double mutant cgr2-1 cgr3-1 also lacks uronic acids and methyl ester (PubMed:25704846). Reduced HG methylesterification in cgr2-1 cgr3-1 double mutant results in thin but dense leaf mesophyll that limits CO(2) diffusion to chloroplasts and reduces leaf area, thus impairing photosynthesis efficiency and carbon (C) partitioning (PubMed:27208234)
Deletion mutant exhibits decreased motility. Mutation causes a slight decrease in flaA expression but does not affect flagellar morphology. Mutant has enhanced biofilm formation and vps gene expression
Essential, it cannot be deleted. Upon depletion cell growth and total protein synthesis become linear
No visible phenotypes. Plants lacking both FTIP3 and FTIP4 have a dwarf and bushy phenotype due to an accelerated stem cell differentiation causing early termination of shoot apices associated with an increased STM localization to the plasma membrane, but compromises nuclear localization
Defects in cytokinesis, leading to multinucleated cells caused by failure to sever the final connecting bridge between the 2 daughter cells. Cells also display defects in development and directed slug movement
Reduced growth
Invasion of the infant human brain microvascular endothelial-cell monolayer is significantly decreased in transposon mutant
Blind to far-red (FR). Impaired inhibition of hypocotyl elongation and cotyledons expansion under continuous FR light conditions
Mutants have normal body morphology, but with reduced body length and width, delayed larval development and decreased roaming movements (PubMed:22022287). Defective cilia structure and function characterized by an increased accumulation and mislocalization of intraflagellar transport proteins and impaired movement of intraflagellar transport proteins along the ciliary axoneme (PubMed:22922713). Disrupted assembly of the BBSome complex at the base of the cilia (PubMed:22922713). Defective avoidance of nitric oxide and P.aeruginosa (PubMed:30014846)
Mutant exhibits elevated intracellular levels of polyP and increased expression of mprB, sigE and rel. Deficiency results in decelerated growth during logarithmic-phase in axenic cultures, tolerance to the cell wall-active drug isoniazid, a significant survival defect in activated human macrophages and reduced persistence in the lungs of guinea pigs
Impaired pod shatter
Mutant mice lack invariant MAIT cells due to impaired thymic selection. They show normal development of T, B and NK cells
Embryolethal. Embryo developmental arrests at the heart stage associated with reduced cell divisions and abnormal cell differentiation, thereby leading to defects in setting up the shoot apical meristem, embryonic vascular tissues and cotyledons. Modified starch composition. This phenotype is enhanced when associated with SBE2.1 and SBE2.2 disruptions
Leads to sensitivity to osmotic stress
No change in localization of FloA or FloT
Death during development
Cells lacking this gene lose the ability to grow with isethionate as the terminal electron acceptor
Neither hmoA single mutant nor the hmoA hmoB double mutant display robust and reproducible phenotypes relative to the wild-type
Cells grow normally in the absence of iron but have a reduced capacity for Fe(3+) uptake; double knockouts of this gene and futA2 (slr0531) grow very poorly in the absence of iron and have a marked reduction in their ability to take up Fe(3+)
Deletion of the gene does not result in any discernible surface adhesion phenotype under standard conditions and mutant does not exhibit a discernible growth defect
Leads to decreased mpkA phosphorylation levels, increased sensitivity to cell wall-damaging agents, increased levels of beta-(1,3)-glucan and chitin, impaired in biofilm formation, and decreased protein kinase C activity (PubMed:25911225). Increases also sensitivity to several metals and ions, such as MnCl(2), CaCl(2), and LiCl, but it is more resistant to ZnSO(4) (PubMed:25911225). Impeairs the virulencein a murine model of invasive pulmonary aspergillosis and induces an augmented tumor necrosis factor alpha response in mouse macrophages (PubMed:25911225)
No visible phenotype under normal growth conditions, but dry seeds of mutant plants accumulate the precursors of the two major storage proteins albumin 2S and globulin 12S
Reduced brood size and decreased fertility under heat stress. Decreased thermotolerance and shortening of life span by 68% and 77% at 20 degrees Celsius and 25 degrees Celsius respectively. Growth of gonads is hampered resulting in shortened arms of the gonads, abnormally shaped spermathecae, lower sperm number and endomitotic oocyte development
Deletion mutant lacks ECP production and is impaired in adherence compared with the wild-type strain
Mice are deaf and die shortly after birth due to neonatal diabetes that results from developmental and functional defects of the pancreatic endocrine cells. Show a loss of enteroendocrine cells in the small intestine, airway and alveolar epithelial cells in the lung, granular neuronal cells in the cerebellum, hippocampal dentate gyrus and sensory neurons in the inner ear due to extensive cell death that occurs during the early stages of differentiation
Mice are born at the expected Mendelian ratio and show no visible phenotype at birth. After weaning, about 43% of the mice exhibit distended abdomens and growth retardation, the others remain symptomless. About 36% of the mice die between 3 and 6 weeks after birth. Affected mice display distended proximal colons and cecums. Both affected and asymptotic mice have increased numbers of myenteric neurons in ganglia in the proximal and distal colon with a concomitant increase in myenteric ganglion size. In the urinary system, mice exhibit increased numbers of NADPH diaphorase positive neuronal cells in the vesical ganglia, and concomitant vesicourethral sphincter muscle dysfunction
Knockout of Slc30a1 is embryonic lethal
Impairs the production of destruxins (PubMed:22232661)
Abnormalities in shoot and inflorescence development leading to the 'bonsai' phenotype characterized by short, compact inflorescence, resulting in reduced plant height, disrupted phyllotaxis, reduced apical dominance and production of clusters of bracts and flowers at the apex of the inflorescence (PubMed:17627280, PubMed:16117643, PubMed:9450349). Reduced seed set mostly due to impaired pollen maturation and thus abnormal male transmission. Defects in mature miRNA miR159 accumulation (PubMed:21441434)
Temperature-sensitive phenotype in which XX animals are self-sterile, do not produce spermatocytes, but ovulate and produce progeny when mated with males; XO animals develop as males, but some switch to oogenesis in later life. Animals do not produce fog-3 proteins responsible for controlling germ cell fate. RNAi-mediated knock-down results in 95% female progeny
Several glr-1-dependent behaviors are affected including an absence of backward locomotion after nose-touching stimuli and a reduction in reverse locomotion (PubMed:17671168). In L4 mutants, incomplete elimination of ventral rab-3-positive synaptic vesicles associated with a delay in the formation of dorsal rab-3-positive synaptic vesicles in DD motor neurons. Normal formation of ventral synapses in DD motor neurons at the L1 stage (PubMed:21609829). In addition, mutants have an increase in anterograde dense-core vesicle trafficking and in the number of plus-end-out microtubules in DB motor neuron dendrites (PubMed:22699897). Reduced sensitivity to the acetylcholine esterase inhibitor aldicarb (PubMed:22699897). RNAi-mediated knockdown results in an abnormal distribution of GABAergic synaptic vesicles at synaptic termini of the ventral nerve cord (PubMed:16996038). RNAi-mediated knockdown in combination with exposure to pentylenetetrazole, a GABA antagonist that induces seizures, results in an increased convulsion incidence as compared to wild-type animals (PubMed:16996038)
Cell polarity defects; delocalized actin patches and abnormal budding (PubMed:8754840). Cell lysis at high temperature (PubMed:8754840)
Mutant produces asukamycin in considerably lower yield than the wild type strain and accumulates major amounts of protoasukamycin
Decreases acetylation of histone H3 'Lys-9' and 'Lys-23' (PubMed:19172748). Simultaneous disruption of GCN5 abolishes acetylation of histone H3 'Lys-9' and 'Lys-27' (PubMed:21256037). Abnormal protein sorting to vacuole (PubMed:12134085)
Strongly reduces the production of patulin
In the eye, axonal targeting of the R7 photoreceptor is disrupted in approximately 80% of axons. Double knockouts of Lar and bdl partially rescue the R7 axonal targeting phenotype
In a single sigL (PubMed:16199577) or double sigL-rslA (PubMed:16552079) disruption mutant, no visible phenotype; not more susceptible than the parental strain to several oxidative and nitrosative stresses. Infected BALB/c or DBA/2 mice showed a significantly prolonged survival time relative to mice infected with wild-type bacteria, although bacteria proliferate normally
No visible phenotype (PubMed:19172180, PubMed:25569774). Ape1l ape2 double mutants are embryo lethal (PubMed:19172180). Ape1l arp double mutants have no visible phenotype (PubMed:19172180). Zdp ape1l double mutants are embryo lethal and cause DNA hypermethylation and down-regulation of imprinted genes in the endosperm (PubMed:25569774)
No visible phenotype under normal growth conditions, but the double mutants tsc10a and tsc10b are not viable
Mutant mice die at the embryo stage
Mutant mice are born at the expected Mendelian rate, are viable and fertile, are grown normally without obvious abnormalities. Mice shown signs of hypertrophy of the intestinal epithelium, as the widths of the villi and crypts, as well as the thickness of muscle layer under the crypts appear increased. However, no spontaneous tumorigenesis either in the small intestine or in the colon is identifiedknockout mice up to the age of 10 months
When the sdpA-sdpB-sdpC operon is deleted, increased rate of spore formation; a double operon deletion (sdpA-sdpC plus skfA-skfH) makes spores even faster (PubMed:12817086). A single deletion mutant does not have SDP activity (active peptide of sdpC) (PubMed:23687264)
Reduced number of emerged lateral roots and lateral root primordia leading to small leaves and short stems in flowering plants
Reduced accumulation of catharanthine, increased biosynthesis of vindoline, but normal levels of ajmalicine
Mice display multiple defects, accelerated aging and die a few weeks after birth, because of impaired genomic stability (PubMed:16439206). Mice do not show any visible phenotype at birth and undergo a normal development during the first two weeks, except for reduced growth (PubMed:16439206). By two/three weeks of age, mice in a 129/SvJ background display severe metabolic defects and develop abnormalities usually associated with aging (PubMed:16439206, PubMed:20847051). These include acute loss of subcutaneous fat, lordokyphosis, erosion of the superficial colon epithelium, severe lymphopenia, osteopenia and severely reduced IGF1 serum levels (PubMed:16439206). Severe hypoglycemia, characterized by very low levels of blood glucose, is also observed (PubMed:16439206, PubMed:20847051). Mice also show defects in DNA double-strand break (DSB) repair (PubMed:23911928, PubMed:32538779). Derepression of LINE-1 retrotransposon elements is also observed, leading to an accumulation of cytoplasmic L1 cDNAs, which triggers the cGAS-STING pathway, driving inflammation (PubMed:30853213). Mice die about 24 days after birth (PubMed:16439206). Mice in a mixed 129/SvJ and BALB/c background reach adulthood: at 200 days of age, more than 80% of the female mice survive whereas only 10% of male mice are alive (PubMed:28448551). Mutant mice in this mixed background (129/SvJ and BALB/c) display reduced body weight, increased glucose uptake and exhibit an age-dependent progressive impairment of retinal function accompanied by thinning of retinal layers (PubMed:28448551). Sirt6-deficient mice that are haploinsufficient with p53/Tp53 display a strongly extended life span in both females and males (PubMed:29474172). Conditional deletion in the liver leads to increased glycolysis, fatty liver, triglyceride synthesis and reduced beta-oxidation (PubMed:20816089). Conditional deletion in the liver also leads to elevated LDL-cholesterol levels (PubMed:23974119). Conditional deletion in hepatocytes leads to impaired ketogenesis (PubMed:30530497). Conditional deletion in adipocytes promotes high-fat diet-induced obesity because of impaired lipolytic activity (PubMed:28723567, PubMed:28250020). Conditional deletion in pancretic beta-cells leads to glucose intolerance with severely impaired glucose-stimulated insulin secretion (PubMed:27457971). Conditional deletion in neurons leads to postnatal growth retardation and obesity (PubMed:21098266). Conditional deletion in podocytes exacerbates podocyte injury and proteinuria; defects are caused by derepression of the Notch signaling (PubMed:28871079)
No visible phenotype. The double deletion of cetA and calA results in cell wall defects and lyse during germination, leading to the inhibition of germination (PubMed:17703972)
Leads to a dramatic decrease in the uptake of arginine or lysine and resistance to canavanine and thialysine
Strains lacking this gene are lysine auxotrophs. They cannot survive in immunocompromised mice
Cells lacking this gene do not produce cycloserine (DCS)
Loss of growth on fructose. Growth on glucose is not affected
Viable, but exhibit low fecundity and have a reduced brood size (PubMed:29886128). RNAi-mediated knockdown results in fertile adults that produce viable progeny (PubMed:29886128). RNAi-mediated knockdown in L1 stage cdk-11.2 bs101 mutants results in sterility (PubMed:29886128). RNAi-mediated knockdown in L4 stage cdk-11.2 bs101 mutants results in fertile adults that produce few viable embryos (PubMed:29886128)
The ice1-2 scrm2-1 double mutant lacks stomata so that the epidermis only contains pavement cells
Cells do not grow in normal air but do grow on 5% CO(2), called a high-CO(2) requiring phenotype, hcr. Loss of CA activity, requires 3.5 X more inorganic carbon for half-maximal CO(2) fixation. Carboxysomes are approximately normal except that ratio of CsoS2A:CsoS2B shifts from 1:1 to 2:1. Required for growth in ambient air (PubMed:31406332)
Unable to grow photoautotrophically on or oxidize either thiosulfate or sulfide. Thiosulfate:cytochrome c oxidoreductase activity is zero in periplasmic extracts prepared from cells grown on thiosulfate plus malate
Decreases the amounts of 4,4-dimethylergosta-8,14,24(28)-trienol, the product of the Fusarium sterol 14-alpha demethylases; and leads to the accumulation of eburicol and 2 additional 14-methylated sterols, 4,4,14-trimethylergosta-trienol and 4,4,14-trimethylergosta-dienol (PubMed:23442154). Leads to reduced ability to produce conidia (PubMed:20955812). Affects ergosterol production in the presence of ebuconazole or triadimefon (PubMed:20955812). Host-induced gene silencing of the 3 genes encoding sterol C14-alpha-demethylase leads to strong resistance of host to Fusarium species (PubMed:24218613)
Conditional deletion in adipocytes leads to defective adaptive thermogenesis: defects are caused by abolition of the futile creatine cycle, thereby reducing whole-body energy expenditure and leading to predisposition to obesity
Reduced growth rate and delayed flowering
Deficient mice exhibit a reduced response to enteric bacteria, showing defective dendrite protrusions of CX3CR1(+) cells in the small intestine (PubMed:30675063). Under ischemia/reperfusion injury, liver dysfunction, cell death and inflammatory induction are consistently and significantly inhibited at 6 hours after reperfusion in GPR31-deficient mice (PubMed:29227475)
Decreased sensitivity to ABA with respect to seed germination, seedling growth and primary root tip elongation. Impaired cytoplasmic Ca(2+) accumulation in response to ABA
When tested in an R1 strain with only a single IS200 element (DR_1651 and DR_1652), not required for transposition of this IS element. Single tnpA or double tnpA-tnpB deletion leads to loss of transposition
When deleted from its operon, no longer protects E.coli against bacteriophages T4, T5 or T6
Mutant embryos show severe erythropoietic defect
Cells lacking this gene do not grow in MM without or even with lysine, but grow in MM with the simultaneous supplementation of lysine and arginine to the medium. Furthermore, the mutant strain does not grow on MM supplemented with lysine and glutamate, but grows with lysine and ornithine
Embryonic lethality; those few animals that survive to adulthood lack functional embryonic and M lineage (mesoblast-cell) derived coelomocytes (CCs) (PubMed:20335356). RNAi-mediated knockdown abolishes expression of ceh-34 in the M lineage (PubMed:20335356)
Homozygous knockout mice lacking Rhag exhibit normal growth, development and fertility (PubMed:16581281, PubMed:19807729). Mice exhibit no significant change in body weight and body mass index (PubMed:19807729)
Deletion mutant is attenuated in vitro and in vivo, and shows enhanced MHC class II-restricted antigen presentation during in vivo infection of mice. Also shows a reduced capability to inhibit autophagy and an increased acidification and lysosomal fusion of phagosomes during infection of phagocytic cells
Morpholino knockdown of the protein induces embryonic lethality due to cardiac dysplasia with little to no blood circulation around 6 days post-fertilization (dpf) (PubMed:24316148). Mutant embryos show pericardial edema and accumulation of erythrocytes in the intermediate cell mass (ICM) at 30 hours post-fertilization (hpf) (PubMed:24316148). Display decreased angioblast migration to the embryonic midline during late gastrulation (PubMed:24316148, PubMed:24407481, PubMed:26017639)
Reduction in growth rate and ultimately cell lysis. Growth arrest is associated with remarkable change in cell morphology from the normal rod-shape to enlarged, spherical cells. Many of the large spherical cells lyse at a later stage
Impairs the formation of appressoria and the ability to infect rice plants (PubMed:23454094). Leads to reduced MAPK MPS1 activation under stress conditions (PubMed:28244240). Affects OSM1 phosphorylation in response to hyperosmotic stress (PubMed:28244240)
Contrary to wild-type, mutant mice do not display imitative scratching after observing spontaneous scratching behavior in another mouse (PubMed:28280205)
Mutation has no effect on the levels of leukotoxin mRNA, but mutants have significantly less total leukotoxin than the parent strain
Grows normally, a double secG/secY2 mutant enters stationary phase earlier. Significant differences in the export pattern of a number of extracellular proteins are seen in a secG deletion; the double secG/secY2 mutant exacerbates this effect (shown in RN4220). Single or double deletions are as virulent as wild-type (shown in RN4220 and SH1000)
No visible phenotype; due to partial redundancy with BON1 and BON3. Bon2 and bon3 double mutant has no visible phenotype. Bon1 and bon2 double mutant is seedling-lethal when grown at 22 degrees Celsius. Bon1, bon2 and bon3 triple mutant is seedling-lethal at any temperature
RNAi-mediated knockdown causes lethality in 17 percent of animals. In the 1-cell embryo, cortical contractions are severely reduced and the pseudocleavage furrow is absent. Positioning of the spindle is abnormal due to reduced pulling forces that prevent oscillatory movements of the posterior spindle pole during anaphase. In 15 percent of animals, causes defects in chromosome segregation resulting in daughter cells with multiple nuclei
Flies are viable and fertile and do not display obvious developmental defects (PubMed:32350990). They however show impaired orientation in walking behavioral assays (PubMed:32350990)
No visible phenotype in normal conditions (PubMed:27798842, PubMed:28051062, PubMed:29511619, PubMed:29511621). Mice are viable, grow normally, are fertile and have normal lymphocyte development (PubMed:27798842, PubMed:29511619, PubMed:29511621). They however show mild radiosensitivity (PubMed:29511619, PubMed:29511621). Mice lacking both Paxx and Nhej1/Xlf show embryonic lethality caused by severe defects in classical non-homologous end joining (NHEJ) (PubMed:27601299, PubMed:27798842, PubMed:27601633, PubMed:27830975, PubMed:28051062, PubMed:29077092)
Abnormal stomatal clusters formation composed by two to four adjacent stomata and some unpaired guard cells originating of extra symmetric divisions in cells with an abnormally persistent guard mother cell (GMC) identity (PubMed:11536724, PubMed:9684356, PubMed:16155180, PubMed:20675570). Abnormal stomatal cluster formation is complemented by FAMA (PubMed:24571519). Increased accumulation of CDKB1-1 in single flp-1 and double flp-1 myb88 mutants (PubMed:20675570). Induction of ectopic precursor cell division and delayed stomatal differentiation. End wall thickenings in all first generation GMCs (PubMed:16155180). Stronger accumulation of stomatal clusters separated by jigsaw-shaped pavement cells with wavy anticlinal walls in dorsiventral (e.g. cotyledons, sepals, and anthers) than in cylindrical organs (e.g. stems, flower stalks, and siliques), where pavement cells are rectangular (PubMed:9684356). Double mutants flp-7 myb88 and flp-1 myb88 have strong defects in stomata repartition with large stomatal clusters formation (PubMed:16155180). Double mutants flp-1 myb88 have increased susceptibility to drought and high salt (NaCl), as well as increased rates of water loss; these phenotypes are associated with reduced accumulation of many typical abiotic stress gene transcripts. Lower stomatal closure in response to abscisic acid (ABA) treatment (PubMed:21105921). Accumulation of CYCA2-3 in newly formed guard cells in flp-1 myb88 double mutant (PubMed:21772250). The double mutants flp-1 myb88 and flp-7 myb88 treated with oryzalin, a microtubule depolymerizing drug, exhibit round-to-oval-shaped single guard cells (sGCs) associated with increased DNA content due to endoreplication leading to 10C DNA levels. The quadruple mutant flp-1 myb88 cdkb1;1 cdkb1;2 has a reduced number of large single guard cells blocked at mitosis, with strongly altered shape and size and characterized by enlarged nucleus due to endomitosis and endocycling, as well as extensive chloroplast replication (PubMed:24123248). The double mutant flp-1 myb88 displays an enhanced stomatal phenotype with more and larger stomatal clusters. Triple mutants cdka;1 flp-1 myb88 don't have guard cells stacks but accumulates sGCs. Accumulation of CDKA-1 in the double mutant flp-1 myb88 (PubMed:24687979). Increased number of ovules produced by the placenta but reduced female fertility due to defective meiotic entry and progression, and subsequent altered embryo sac development, thus leading to reduced seed set (PubMed:22915737). Reduced numbers of lateral roots (LRs). The double mutants flp-1 myb88 and flp-7 myb88 lack lateral roots with reduced PIN3 levels (PubMed:26578065). Gravitropic defects in primary roots associated with a delayed auxin asymmetric redistribution due to reduced PIN3 and PIN7 levels (PubMed:26578169)
Cells lacking this gene accumulate the fully unsaturated C30 carotenoid backbone 4,4'-diapolycopene with some additional less unsaturated intermediates
Mice expressing a null mutation of the alpha-6 subunit gene die soon after birth and develop severe blistering (PubMed:8673141). The blisters are due to separation of the basal epithelial cells from a normally formed basement membrane (PubMed:8673141)
No visible phenotype, but impaired degradation of both thymine and uracil (PubMed:19413687, PubMed:21865177). Slower germination and 2 days delay in seedling development (PubMed:21865177)
Flies display increased active transport of cGMP. Overexpression of Pde6 confers inhibition of the active transport and efflux of cGMP by tubules
Mice are born at the expected Mendelian rate, are viable and fertile. They display strongly reduced transacylase activity in lung alveolar macrophages and in peritoneal macrophages, leading to the accumulation of pulmonary surfactant phospholipids with phosphatidylethanolamine and phosphatidylcholine headgroups. Mice display higher numers of alveolar macrophages in the lung, together with a mononuclear cell infiltrate in airways and blood vessels. Alveolar nmacrophages are larger than normal and present lamellar inclusion bodies, indicative of cellular phospholipidosis. Besides, mutant mice display splenomegaly
Causes increased sensitivity to hypertonic growth medium
Leads to the accumulation of a shunt product in which a double bond is introduced between C5 and C6, thereby scrambling the existing stereochemistry at both positions
Photomorphogenic mutant insensitive to red and far-red light leading to long hypocotyls. Flowers early particularly under long days (PubMed:16709197, PubMed:16384903). Also impaired in phytochrome-mediated end-of-day far-red light response, cotyledon expansion, far-red light block of greening, and light-induced expression of LHCB3 and CHALCONE SYNTHASE (CHS) (PubMed:16384903). Enhanced expression of CONSTANS (CO) and FLOWERING LOCUS T (FT) under long days and short days (PubMed:16709197)
Cells lacking this gene show up-regulated sigma X activity
Leads to a slight decrease in lesion numbers and lesion sizes after host leaves infection
Under hyperoxic conditions or low temperature (16 degrees Celsius), lifespan, body size and fertility are severely reduced and sexual maturity and egg hatching are delayed (PubMed:8350650, PubMed:8169328). Slight increase in the number of apoptotic cells at the embryonic comma stage (PubMed:21895890). Also shows strong susceptibility to UV irradiation and paraquat treatment. Does not show increased sensitivity to X-ray radiation (PubMed:7152245, PubMed:8350650). Increased sensitivity to P.aeruginosa PA14-mediated killing (PubMed:9989496). Body wall muscle mitochondria appear enlarged and abnormal with less developed cristae in hypoxic or hyperoxic conditions (PubMed:21895890)
Deletion mutant is unable to grow on N-acetylneuraminic acid (Neu5Ac) as the sole carbon source
Simultaneous RNAi-mediated knockdown of set-9 and set-26 results in extended lifespan
RNAi-mediated knockdown results in greatly reduced radiation-induced bystander effect (RIBE) activity in the culture medium of irradiated animals
RNAi-mediated knockdown causes accumulation of calcium oxalate crystals in Malpighian tubules
Defective heart morphogenesis leading to lethality
Deletion of the CXXC zinc finger domain of FBXL19 leads to mouse embryonic lethality
LGI3-null mice are fertile, have a normal lifespan, and do not show obvious behavioral abnormalities. They show strongly reduced expression and mislocalization of Kv1 channel complexes that infringe on the paranodal domain. Kv1 channel complexes mislocalization is further exacerbated following nerve injury, as Kv1 complexes are confined to the paranodal domain in remyelinated axons
Viable and ovaries appear normal. However females are sterile. Phenotype likely results from transcriptional defects at piRNA clusters caused by loss of Pol II specifically at rhi-dependent piRNA clusters in the developing ovary, resulting in a severe reduction in steady-state piRNA precursor levels and derepression of transposable mRNA transcription
Deletion mutant has a non-mucoid phenotype (PubMed:11707327, PubMed:12775688). Mutant produces predominantly an unsaturated disaccharide originating from degradation by AlgL (PubMed:12775688)
In the second generation, there is defective mitotic spindle orientation in the EMS and ABar blastomeres which results in disrupted left-right asymmetry and failure to undergo morphogenesis (PubMed:20126385). Due to defective apoptotic cell clearance, embryos accumulate apoptotic cell corpses (PubMed:20126385). Distal tip cell migratory defects (PubMed:26292279). Double knockout with unc-5 RNAi suppresses the distal tip cell migratory defect in the ced-10 single mutant (PubMed:26292279)
Worms exhibit ectopic expression of Hox genes and homeotic transformations. Mutants are also long and exhibit defects in distal tip cell migration
No production of thailandamide antibiotic. When the promoter region is disrupted (121 bases before the start codon) thailandamide production increases (PubMed:20853892). In 2 other promoter disruption mutants (617 and 624 bases before the start codon) this bacterium no longer inhibits growth of Salmonella in an overlay assay, suggesting no thailandamide is produced (PubMed:29914944)
No crucial effects on activation of cre regulon gene expression during aerobic growth on glucose or pyruvate minimal medium or during anaerobic growth on glucose minimal medium
No visible phenotype under normal growth conditions, but mutant plants exhibit multiple specific editing defects in chloroplast transcripts (PubMed:19297624, PubMed:23110894). Mutant plants have increased sensitivity to cold stress (PubMed:23110894)
Not essential, disruption of rpfB alone has no effect on growth or survival in liquid culture, nor in mouse infection models, colonies plated over a 52-week culture period are visibly drier and more friable. Alterations in gene expression are seen. All 5 genes in this family can be deleted without affecting growth in culture, however triple deletion mutants (rpfA-rpfC-rpfB or rpfA-rpfC-rpfD) are not able to resuscitate spontaneously in the presence or absence of O(2), and are attenuated in a mouse infection model
Impairs germ tube formation and suppresses hyphal formation. Decreases also pathogenicity and adherence to polystyrene plates
Reduced brood size, increased embryonic lethality and increased larval arrest (PubMed:22927825, PubMed:23874210). Increased number of rad51 foci in meitotic and mitotic nuclei and increased germ cell apoptosis (PubMed:22927825). Hypersensitivity to ultraviolet C, nitrogen mustard and camptothecin but not to gamma irradiation (PubMed:22927825). Increased chromosomal abnormalities including increased intra- and inter-bivalent chromatin bridges (PubMed:23874210). Increased meiotic crossover frequency in the center of chromosomes III, IV, V and X with decreased frequency in the arm regions of chromosomes III, IV, V and X (PubMed:22927825)
Mutant mice show severe developmental abnormalities and die between 10.5 and 12.5 dpc. Compared to wild-type littermates, mutant embryos at 9.5-11.5 dpc have a significantly smaller body size, pulsing, but less developed cardiac structures, a poorly developed liver and a thinner neural tube cell layer. They lack trophoblastic giant cell layer in the placenta. Primary cultures of mutant neuronal cells have severe defects in synapse formation and high sensitivity to Ca(2+)-dependent apoptosis. Within cerebellar neurons, Purkinje cells are particularly sensitive to Dnm1l ablation. Conditional knockout in postmitotic Purkinje cells leads to 40% neuronal degeneration after 3 months and 90% after 6 months
Morpholino knockdown of the protein show impaired gastrulation and heart formation (PubMed:17336905). Embryos display reduced migration of anterior lateral plate mesoderm (LPM) cells and cardiac progenitor cells (angioblasts) toward the midline during late gastrulation (PubMed:17336905, PubMed:26017639). Embryos show altered cardiac gene expression (PubMed:17336905). Embryos with CRISPR-induced apelin and apela null mutations show a strong decrease in the angioblast migration to the embryonic midline during late gastrulation (PubMed:26017639)
Mice show an increase in the abundance of type 1 oxidative muscle fibers in the diaphragm. Female mice show also an increase in the abundance of type 1 muscle fibers in the extensor digitorum longus. Conditional knockout in neurons leads to decreased body mass; male show reduced white adipose tissue mass while female show reduced perigonadal fat mass. Show also abnormal circling behavior and severe seizures
A high chlorophyll fluorescence mutant. Impaired PSII function, maximum photochemical efficiency of PSII was decreased, about 25% PSII in thylakoids; severely reduced growth, decreased chlorophyll content. Inefficient processing of the D1 precursor to the mature form
Lethality occurs at birth or within a day thereafter, for unknown reasons. Embryos at 14.5 dpc are morphologically indistinguishable from wild type (PubMed:17332504). MORC3 deletion leads to increased osteoblast differentiation and altered osteoblastic gene expression through up-regulation of IFN-beta/STAT1 signaling pathway (PubMed:27188231)
Gene knockdown results in decreased overall survival and growth retardation. Mutant fishes have pathological liver features, including swollen hepatocytes, steatosis, fibrosis, and hepatocyte apoptosis
Reduced resistance to extracellular pathogens (PubMed:17381241). Complete absence of thermal allodynia in mutant larvae exposed to UV radiation (PubMed:19375319). RNAi-mediated knockdown in the adult fat body results in increased survival following S.typhimurium infection, increased levels of diptericin and reduced feeding rate (PubMed:20505310)
Mice display heightened aggressive and anxiety-like behaviors. They also display an extended and exacerbated period of breathing instability immediately after birth which results in an increased risk of death. This is associated with loss of the differentiation of a large number of the serotonin (5-HT) neurons without major structural abnormalities of the brain
Partially blocks reticulophagy, and the double ATG39/ATG40 knockout almost completely blocks this pathway. Leads to abnormal morphology in the nucleus/pnER, when exposed to prolonged nitrogen starvation
Reduced levels of insulin-like peptide Ilp5 mRNA, reduced secretion of Ilp2 and Ilp5 proteins in mid-L3 larvae, growth defects and developmental delay during larval stages
Embryonic lethality before implantation (PubMed:17728759). Conditional deletion leads to rapid hematopoietic stem cell loss in both fetal and adult stages (PubMed:32542325). Conditional deletion at postnatal day 15 leads to impaired spermatid development: testes are smaller and show defects in the transition from the transition from round to elongating spermatids (PubMed:28694333). Defects in spermatid development is probably caused by impaired acetylation of histones that affects histone replacement (PubMed:28694333). Conditional deletion in response to DNA damage leads to impaired homologous recombination (HR)repair in response to DNA double-strand breaks (DSBs), associated with increased non-homologous end joining (NHEJ)-mediated repair mediated by TP53BP1 (PubMed:30297459)
Mice lacking isoform 5 die during mid-gestation (around embryonic day 11.5) (PubMed:30297694). Prior to developmental arrest, embryos display defects in heart and neural tube (PubMed:30297694). Specification of cardiac and neural cell fates is first normal; however, cell division and survival are impaired in heart and neural tube, respectively (PubMed:30297694)
Increased sensitivity to the pathogenic biotrophic bacteria Xanthomonas campestris pv. campestris (Xcc) (PubMed:26355215, PubMed:30948527). Reduced resistance to Pseudomonas syringae expressing HopZ1a (PubMed:26355215, PubMed:28288096)
RNAi-mediated knockdown causes embryonic lethality characterized by a retraction of the fully elongated embryo, a progressive disorganization of the embryo and a failure to hatch (PubMed:10805750). Also causes increased expression of the unfolded protein response (UPR) marker hsp-4 (PubMed:21199936)
The triple mutant srbp1 srbp2 srbp3 is more susceptible to tobacco rattle virus (TRV)
Low levels of fertility due to a significant decrease of meiotic crossovers
RNAi-mediated knockdown results in DNA damage repair defects following ionizing radiation with reduced ubiquitination at DNA damage sites
No visible phenotype under normal growth conditions (PubMed:29915151). The double mutant seedlings icu11 and cp2 skip the vegetative phase, flower immediatly after germination and then die (PubMed:29915151)
Muscular defects and reduced alpha-dystroglycan (dag1) glycosylation
In myb36-1, myb36-2 and myb36-4, impaired Casparian strips formation replaced by ectopic lignin-like material in the corners of endodermal cells, associated with reduced expression of several endodermis-specific genes and abnormal CASP1 localization in the plasma membrane (PubMed:26124109, PubMed:26371322). Multiple changes to leaf ionome, including elevated concentrations of sodium, magnesium, and zinc and decreased calcium, manganese, and iron. Longer root hairs (PubMed:26124109). Delayed and defective barrier (Casparian strips) formation as well as extra cell divisions in the meristem in roots (PubMed:26371322)
Decreases ubiquitination of sde2
Mice are born at the expected Mendelian rate and have normal lifespans without obvious abnormalities. They show a moderate decrease of hematopoietic progenitor numbers under steady state. Constitutive or conditional SLC1A5 deletion confers resistance to hematological malignancies
RNAi-mediated knockdown does not affect vulva development. Partially suppresses ectopic vulva formation in a let-60 (n1046) gain-of-function mutant background
Cells lacking this gene result in an increased permeability and an altered cell wall
Cells are viable under normal growth conditions, but contains a reduced amount of ergosterol and elevated amounts of the ergosterol biosynthetic intermediates, 24-methylene lanosterol, ergosta-5,7,24(28)-trienol and ergosta-5,7-dienol. Deletion mutant is sensitive to the inhibitors of sterol synthesis itraconazole and CoCl(2)
Accumulation of large quantities of glutelin precursor (proglutelin) in the endosperm
Delayed epiboly and reduced embryonic size
RNAi-mediated knockdown results in cuticle defects in adults, where the external and internal cuticle under the alae are detached (PubMed:15936343). In addition, alae are present, but they are shallower and often have two or four ridges rather than the three in adult wild-type animals (PubMed:15936343)
Null mutants are viable, but grow more slowly than wild-type cells at 30 degrees Celsius. They are cold-sensitive, failing to grow at 12 degrees Celsius. They display flocculent growth in liquid media and they show abnormal cell morphologies, for example, a significant fraction of the cells are greatly enlarged. Deletion mutant has increased phosphorylation of 'Ser-5' of the CTD repeat during logarithmic growth. Deletion eliminates transient increase in CTD 'Ser-2' phosphorylation observed during diauxic shift. Deletion mutant is synthetically lethal when combined with deletion of DST1 or ELP genes. Deletion mutants are modestly sensitive to the uracil analog 6-azauracil (6AU), which inhibits elongation by depleting nucleotide pools. Deletion mutant is sensitive to the DNA synthesis inhibitor hydroxyurea (HU) and UV irradiation. 'Ser-2' phosphorylation within the CTD repeats is not increased in deletion mutants upon treatment with DNA-damaging agents
Mice display a cleft palate caused by defects in medial edge epithelial seam degeneration and palate fusion, leading to death within the first day after birth
No obvious phenotype (PubMed:27006488). The smo2-1 smo2-2 double mutant accumulates the 4alpha-methylsterols 24-ethylidene lophenol and 24-ethyl lophenol, and is embryonic lethal, arrested in early stages with an altered endosperm development, probably due to disturbed auxin flux and responses (PubMed:27006488)
Mutants exhibit eye defects and a delay in the S- phase of the cell cycle
Death between 9.5-10.5 dpc. Mice are approximately half the size of wild-type littermates and display vascular and cell viability defects. Some heterozygotes also do not survive but those that do have no apparent defects
Knockout mice develope worse obesity, dyslipidemia and insulin resistance than wild-type mice when challenged with a high-fat diet
Cells lacking this gene show an abolition of the extensive lag phase observed when grown on MurNAc and a 20-fold enhancement of murQ transcription
Low rates of telomere shortening at each generation. Null mutant plants can survive up to 10 generations before dying. Accelerated proliferation and cell death in dedifferentiated cells
No visible phenotype of seedlings under normal growth conditions (PubMed:26973665). The double mutants pao1 and pao5 exhibit enhanced tolerance to salt and drought stress (PubMed:26973665)
No visible phenotype. The secretion of specific cytokines (CCL3, CCL5 and CXCL2) by macrophages exposed to bacterial lipopolysaccharide (LPS) is decreased. Mutant mice display decreased migration of macrophages into the intraperitoneal space after injection with LPS, or after infection with E.coli O78:H11 (strain H10407)
The stp-disrupted strain is 4 times less virulent than the wild strain, demonstrating that stp is required for full virulence of L.monocytogenes in BALB/c mice
Leads to a K1 killer toxin hypersensitivity and pleiotropic effects on gene expression
Inactivation of the gene encoding AHBA synthase results in loss of rifamycin formation; production of the antibiotic is restored when the mutant is supplemented with AHBA. Cells lacking this gene do not accumulate aminoDHS, aminoDHQ, or their spontaneous aromatization product, protocatechuate
Viable, with severe reduction of sperm production in males
Cells lacking pefA and mutants lacking both pefA and pefB grow normally in axenic medium or on bacterial lawns, and have no major differentiation defect
Growth retardation followed by lethality. Some mice die in the uterus during embryonic development. Newborn mice that survive fail to thrive and all die at different times within the first 3 weeks. The body weight of newborn is lower than wild-type mice, and the postnatal growth is severely retarded, with a clear retardation of body weight gain. The growth retardation is not only reflected in the body weight, but also in multiple organs, such as the spleen, kidney, liver, heart and intestine. Mice also show neuronal deficits in the hippocampus and cortex: despite a normal neuroanatomy, defects in synaptic function, learning and memory and a reduction in the amounts of ionotropic glutamate receptors (NMDA and AMPA receptors) are observed
Strains lacking panB gene alone display relatively normal growth rate and overall cell yield. Moreover, strains lackings both panA and panB still show robust growth, demonstrating that the PAN proteins are not essential
Leads to decreased sublethal intraperitoneal infection in mice
Normal vegetative cell population growth (PubMed:32032353). Simultaneous knockout of wtf15, wtf14 and wtf11 results in normal spore viability (PubMed:32032353)
Blocks autophagy (PubMed:28894236). Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Strongly reduces conidiation and completely fails to form any perithecia (PubMed:28894236). Causes only mild infection in point-inoculated spikelets of flowering wheat heads and impairs the spreading to nearby spikelets (PubMed:28894236)
Lacks 4-oxalmesaconate hydratase activity
Cells lacking this gene show undetectable threonine ammonia-lyase and serine ammonia-lyase activities. They are capable of growth in the absence of isoleucine, whereas mutants lacking both tdcB and the citramalate synthase cimA are auxotrophs for isoleucine
Abnormal spore maturation in presence of cw9-encoded poison (PubMed:28631610). Sensitises cells to cw9-encoded poison; simultaneous disruption of cw27 enhances sensitivity (PubMed:28631610)
Morpholino knockdown of the protein causes defects in retinal, cerebellar and otic cavity development and cyst formation in pronephric kidney tubules
No visible phenotype. Sperm have normal fertilizing ability
Normal growth, but increased number of stomata in adaxial and abaxial leaf epidermis (PubMed:20128882). Increased sensitivity to salt and drought stresses (PubMed:20128882)
Dwarf plants with reduced cell numbers, endoreduplication and cell expansion leading to a slow growth (PubMed:26685188, PubMed:30212650). Altered pathogen-associated molecular pattern (PAMP)-triggered immunity (PTI) signaling characterized by a compromised ability to elicit a reactive oxygen species (ROS) burst in response to microbial features (e.g. flg22) (PubMed:30212650). Enhanced resistance to the bacterial pathogen Pseudomonas syringae pv. tomato DC3000 (Pst) due to high levels of salicylic acid (SA) and subsequent constitutive expression of pathogenesis-related genes (e.g. PR1) and associated with reduced jasmonic acid (JA) levels (PubMed:30212650). The double mutant sik1 mob1a is arrested at the seedling stage (PubMed:26685188)
Mice display a decrease in newborn neurons and defects in brain function (PubMed:17487225, PubMed:22079349). Mice show an age-dependent increase in basal hippocampal progenitor proliferation and alterations in behavioral tests (PubMed:17487225). Mice lacking both Alk and Ltk show a strong reduction in newborn neurons (PubMed:22079349). Mutants develop a thin phenotype at the age of 5 weeks, persisting into adulthood with reduced body adiposity, elevated adiponectin levels and improved glucose homeostasis, while having unaltered food intake and activity (PubMed:32442405). They show a marked resistance to diet- and leptin-mutation-induced obesity and exhibit increased adipose tissue lipolysis (PubMed:32442405)
Leads to avirulence using a BALB/c disseminated mouse model
Inactivated mutant strain is unable to invade HeLa cells and to provoke keratoconjunctivitis in guinea-pigs
Higher levels of adrenocortical cell apoptosis and impaired glucocorticoid production are observed
No visible phenotype under normal or hypoxic and normoxic stationary phase growth
Ovules with a single integument instead of two
Impairs the production of dihydroxynaphthalene (DHN)-melanin and results in reddish-pink conidial phenotype (PubMed:9383199, PubMed:26972005). Up-regulates complement component C3 deposition on conidial surfaces (PubMed:9383199). Causes enhanced insect mortality compared to the parent strain in a wax moth Galleria mellonella infection model, probably through exacerbated immune response of the wax moth (PubMed:19156203)
Bright green and glossy stems and siliques due to low abundance of cuticular wax. Increased levels of C26 and C28 alcohols and disappearance of C29 alkane and C30 alcohol in the stem wax
Show reduced eye pigmentation
Mutant mice exhibit high perinatal mortality and only 50% are alive 3 days after birth. Early death may be due to intestinal dysfunction. Animals are on average 40% smaller than wild-type and heterozygous sex-matched littermates. Growth retardation, probably due to hypoplasia, appears from 17.5 dpc and remains permanent into adult life. Mutant animals exhibit other stricking features, including impaired development of the intestine, with small and misshapen villi and twisted colon crypts, abnormal kidney architecture and loss of cartilage in the lower extremities. Some animals show signs of neurological damage, including aggressive behavior, restlessness and circular movements
Newborns appear normal, but do not thrive. Their blood glucose levels and leukocyte levels decrease steadily, the spleen size is dramatically reduced, and they become progressively runted. They die about ten days after birth. Mice exhibit abnormally high MAP3K14 protein levels and constitutive proteolytic processing of NFKB2/p100, leading to constitutive activation of NF-kappa-B
Reduced wound-activated surface potential changes (WASP) duration in the systemic leaves, resulting in a decreased induction of the regulators of jasmonate-signaling. Glr3.3 and glr3.6 double mutant has no detectable changes in surface potential in systemic leaves and the induction of the regulators of jasmonate-signaling is more strongly decreased
Dwarf phenotype. Collapsed xylem vessels and reduced xylan content in cell wall
Sensitive to the mutagens MMS and MMC. Increased sensitivity to gamma radiation. Deficiency in homologous recombination in somatic cells but only after induction by genotoxic stress. Decreased pollen viability with morphologically aberrant (small and misshaped) grain. Moderate reduction in meiotic crossovers. The double mutant mus81 send1 exhibits severe developmental defects (e.g. strong growth retardation and impaired leaf and shoot development), increased endoreduplication, slower cell cycle progression, spontaneous cell death and genome instability associated with a dramatic loss of telomeric repeats (PubMed:26704385)
When the skfA-skfB-skfC-skfE-skfF-skfG-skfH operon is deleted, increased rate of spore formation; a double operon deletion (sdpA-sdpC plus skfA-skfH) makes spores even faster (PubMed:12817086)
Extended lifespan, increased food consumption and increased resistance to oxidative stress induced by paraquat (PubMed:30911178). Increased levels of mono- and polyunsaturated monoacylglycerides, including endocannabinoid 2-arachidonoylglycerol (PubMed:30911178). Lifespan is further extended following treatment with the benzodioxole 4-[bis(1,3-benzodioxol-5-yl)-hydroxymethyl]-1-piperidinecarboxylic acid (4-nitrophenyl) ester (JZL184) (PubMed:30911178)
Accelerated cell death. Enhanced susceptibility to virulent and avirulent pathogens
Mutants show hypotrophy of the nucleolus
Reduced germination ratio by salt treatment. Mannitol, an osmotic agent, together with salt strongly inhibit the growth and the plants are generally unhealthier than wild-type with less green cotyledons. Dramatic reduction of about 75% in root length upon salt or general osmotic stress. Plants wither under drought stress and the leaves have quicker water loss rate
Slight reduction in brood size. 24 percent reduction in lifespan which is further reduced upon M.nematophilum CBX102 bacterial infection. Impaired food digestion characterized by the accumulation of unlysed E.coli in the intestine. Accumulation of unlysed bacteria is stronger upon M.nematophilum CBX102 infection
Curling and serrated leaves. Down curling phenotype on both the distal and lateral axis
Delayed growth and reduced fertility. Defective roots, shoots and flowers. Reduced seed set. Reduced levels of primary miRNAs as well as mature miRNAs
Does nor affect the production of the fusarubins (PubMed:22492438)
Mice are born at the expected Mendelian rate, but display a slightly reduced body weight and reduced fertility. Mice display increased synaptic vesicle diameter and impaired compensatory synaptic vesicle endocytosis after high synapse activity. Rod photoreceptor ribbon synapses display an abnormally high number of endosome-like structures and tubular elements after light exposure. Mice display defects in excitatory and inhibitory synaptic transmission in the hippocampus, and display a tendency to seizures when confronted with novelty
Mutation in either rssA or rssB confers a precocious-swarming phenotype on LB agar: swarming occurs at 37 degrees Celsius and is initiated at a lower cell density and more rapidly than the swarming of the parent strain at 30 degrees Celsius. Both mutants also exhibit increased hemolysin activity and altered cell surface topology
Increases the sensitivity of P.roqueforti towards MPA and decreases MPA production by the fungus
Leads to increased expression of sirP and subsequent production of sirodesmin, as well as to a higher ratio of deacetyl sirodesmin (PubMed:15707846)
Knockout mice which are homozygous for the PAFAH1B2 gene appear developmentally normal, and are born at the expected Mendelian rate. Mice have normal fertility and normal spermatogenesis. Double mutant female mice which are homozygous for PAFAH1B2 and PAFAH1B3 are grossly normal and fertile, whereas double-mutant males are infertile. Double mutan mice manifest an earlier disturbance of spermatogenesis with an onset at preleptotene or leptotene stages of meiosis
RNAi-mediated knockdown results in sterility and disrupts the localization of pgl-1 to P-granules at 24.5 degrees Celsius
In the deletion mutant, TssB1 is still recruited to the structure containing TssK1, but the assembly of TssB1-sheath is aborted likely at the nucleation stage
Cells grow slower and to lower myceliar densities
Abolishes completely the production of mannosylerythritol lipids (MELs)
Lethal within a few hours after birth with multiple defects in organogenesis. Mice show an early block in cilia formation and a phenotype reminiscent of human short rib-polydactyly syndrome
MNS1-deficient mice display situs inversus and hydrocephalus. They are sterile, exhibit a sharp reduction in sperm production, and remnant spermatozoa are immotile with abnormal short tails
No visible phenotype; double yncF-yosS deletions (both encode dUTPases) are also viable
Reduced vegetative growth and reduced expression of ferritin
A quadruple eutP-eutQ-eutT-eutD deletion is not impaired for aerobic growth on ethanolamine (EA) supplemented with cobalamin (vitamin B12) (PubMed:10464203). A non-polar deletion mutant grows on EA from pH 5.5 to pH 8.0, but does not grow at pH 8.5, releases increased amounts of acetaldehyde on EA plus vitamin B12 (PubMed:16585748). Does not grow on EA and tetrathionate under anoxic conditions; complemented by acetate/propionate kinases AckA, PduW or TdcD (PubMed:26448059). Only makes a single immobile BMC localized near the cell pole (PubMed:27063436)
RNAi-mediated knockdown results in reduced alpha-1,3-fucosylation of chp
Deletion mutant cannot grow on D-galactitol. Does not exhibit a growth defect when grown on D-altritol
Leads to long chronological lifespan
Not essential. Normal levels of sigma-E function at pH 7.0, loss of acid stress induction of sigma-E. 100-fold decreased survival in acidified murine macrophages
Death during embryogenesis (PubMed:15716356). Some muscle differentiation occurs although it is poorly organized and little elongation or morphogenesis is evident (PubMed:15716356). Extra A/PVM neurons are produced from the precursor Q.pp, which is normally fated to die, acquiring the fate of its sister Q.pa (PubMed:21596567). Q.pa and Q.pp have almost similar size caused by a loss of Q.p asymmetric cell division (PubMed:21596567). In oocytes, plasma membrane localization of rme-2 is impaired resulting in the loss of vit-2 uptake which accumulates in the pseudocoelom (PubMed:21596567). RNAi-mediated knockdown results in a hyper-connected mitochondrial network in body wall muscle cells (PubMed:25190516)
No visible phenotype, but enhanced 2,4,6-trinitrotoluene (TNT) tolerance
Mice appear phenotypically normal with no apparent defects in ovarian development, oocyte maturation or ovulation (PubMed:14670992, PubMed:22357545). Cortical granules are scattered throughout the cytoplasm in oocytes and ovulated eggs (PubMed:31118423). Reduced abundance of intact MYH9/MyoIIA and MYO5A, the dense cortical actin scaffold remained present prior to exocytosis (PubMed:31118423). Increase in polyspermy in the perivitelline space resulting from a decrease in efficacy of the zona pellucida block. Increase in multiple pronuclei and delay in cortical granule exocytosis and ZP2 cleavage (PubMed:31118423). Embryos form unequal sized blastomeres due to smaller, dysmorphic, and displaced mitotic spindles resulting in asymmetric division (PubMed:25208553). Increase in apoptotic cells in blastomeres which progress beyond the 8-cell stage (PubMed:22357545). Decrease in thickness of subcortical F-actin in zygotes, thickening of F-actin bundles in the cytoplasm and loss of F-actin cytoplasmic lattices (PubMed:25208553). Increase in subcortical mitochondrial clustering of mitochondria in 2-cell embryos (PubMed:22357545). Increase in mitochondria activity, shown by an increase in membrane potential and reactive oxygen species (PubMed:22357545). Decrease in expression of the SCMC-associated protein ZBED3 in the cytoplasm of oocytes (PubMed:28992324). In knockdown mice M2 oocytes show a diffuse ER distribution pattern with a reduced number of cortical ER clusters and random movement of lipid droplets during oocyte maturation (PubMed:24374158). Reduces tubulin localization to the cellular microtubular architecture (PubMed:24374158). Decrease in storage and release of Ca(2+) from the endoplasmic reticulum, and disruption of Ca(2+) oscillations following oocyte fertilization (PubMed:24374158). diffused localization of ITPR1/IP3R-1 throughout the cytoplasm with reduced clustering at the oocyte cortex (PubMed:24374158)
Deficient mice die during organogenesis. Mutant embryos show signs of myocardial wall thinning, hypotrabeculation, defective mitochondrial and circulatory failure
Deletion does not affect EsxN and PPE41 secretion
Misexpression of AGAMOUS, recognizable phenotypes (e.g. curly leaves, and early flowering time) and loss of H3K27me3 histone H3-tail marks (PubMed:17881378). Double mutant plants atx1 clf exhibits normal leaf-phenotype and flowering time (PubMed:17881378). The double mutant clf-50 swn-1 is hypersensitive to abscisic acid (ABA) associated with reduced ABA-responsive genes repression by histone H3 'Lys-27' methylation (H3K27me3) (PubMed:30307069)
Abolishes growth on benzoic acid, benzaldehyde, benzyl alcohol, p-anisic acid, p-anisyl alcohol, m-hydroxybenzoic acid and p-hydroxybenzoic acid; and reduces growth on p-coumaric acid, cinnamic acid, protocatechuic acid, p-coumaric acid, and caffeic acid
Mutant mice do not show altered basal nociception, but are no longer susceptible to modulation of nociception by the neuropeptide nociceptin. Contrary to wild-type, they do not show reduced locomotion in response to the neuropeptide nociceptin. In addition, mutant mice show subtle hearing defects
Mutants are unable to form wild-type biofilms, which could be due to altered peptidoglycan metabolism
Impairs the production of terrequinone A (PubMed:17291795)
Slow growth rates of spores and severe nuclear envelope (NE) morphology defects (PubMed:28242692). Asymmetric and even failed karyokinesis (PubMed:28242692). Overgrowth of nuclear membranes, so-called karmellae, in cells with daughter spindle pole bodies (SPBs) that often fail to separate normally or display extensive delays in separation (PubMed:28242692). Large fenestrations through both the inner and outer nuclear membranes and abnormal nuclear integrity, i.e. leaking nuclei (PubMed:28242692). Extensive whorls of disorganized tubulo-vesicular membranes that are topologically continuous with the adjacent karmellae (PubMed:28242692). Decreased number of nuclear pore complexes (NPCs) (PubMed:28242692). Simultaneous knockout of cmp7 or lem2 suppresses the slow growth rates of spores and severe nuclear envelope (NE) morphology defects (PubMed:28242692)
Loss of resistance to P.syringae expressing AvrRps4
Impairs the synthesis of austinol and dehydroaustinol and accumulates the intermediate compound isoaustinone (PubMed:22329759)
No visible phenotype, but increased leaf starch content and decreased protein content
Abolishes production of trichodimerol and dihydrotrichotetronin in darkness (PubMed:28809958). Also impacts production of paracelsin in a light dependent manner, with decreased paracelsin levels in light, but likely in an indirect way (PubMed:28809958). Results also in a positive trend for cbh1 transcript levels and increased specific cellulase activity (PubMed:28809958)
Animals develop normally and show no clear neurologic symptoms as adults. However, electrophysiologic studies indicated that mutant mice have decreased motor nerve conduction velocities and delayed compound action potentials. Mutant mice perform slightly less well than control mice in the rotarod test (PubMed:23777631). Deficient mice have no motoneuron loss during their first year. A loss of motoneurons starts at 12 months and this decrease is more prominent in 24-month-old animals. Biogenesis of autophagosomes is impaired in Plekhg5-deficient motoneurons resulting in a reduced number of retrogradely transported autophagosomes (PubMed:29084947)
Pollen tube (PT) overgrowth inside the female gametophyte (FG) without PT rupture. Degenerated pollen grains before maturation, during the early tricellular stage
Mutants have a significantly increased frequency of intergenomic recombination. They are more sensitive than wild-type cells to oxidative stress induced by agents such as H(2)O(2), paraquat or oxygen. They also have a reduced colonization capacity in a mouse model of infection
No visible phenotype during growth on solid medium at 16-42 degrees Celsius on rich or minimal media, no peptide-tagging of proteins translated from mRNA lacking a stop codon by tmRNA, i.e. no trans-translation (PubMed:10393194, PubMed:11917023, PubMed:15069072). 4-8 fold increased susceptibility to a number of antibiotics (norfloxacin, gentamicin, trimethoprim, tetracycline and streptomycin but not ampicillin), very significantly reduced production of persister cells (PubMed:23812681). A number of bacteriophage development defects (PubMed:10393194)
Plants develop collapsed and inviable pollen grains
No visible phenotype. Mice have normal bone marrow B-cell development and normal splenic T- and B-cell populations, but show an enhanced immune response upon immunization. Mice have constitutively activated Lyn, due to constitutive Lyn tyrosine phosphorylation
Embryonic lethality (PubMed:32084332). Conditional knockout in nociceptors decreases the mechanosensitivity of nociceptors and reduces behavioral responses to painful mechanical stimuli but not to thermal or touch stimuli (PubMed:32084332)
Mutant tan1 displays a shorter stature with smaller, more erect leaves than normal. Moreover, mutant leaves have a distinctly roughened, crepe-papery texture compared to the smooth surface of a normal leaf
Attenuated response to nose touch stimulation. Defects in salt attraction. Disrupted chemotaxis. Hyperactivation of AFD thermosensory neurons but inactivation of the ASH neurons. Reduced dauer formation. Protection from hemiasterlin toxicity by carbonyl cyanide p-[trifluoromethoxy]-phenyl-hydrazone (FCCP) greatly reduced. Reduced neuropeptide secretion
Increased sensitivity to bile salts and other detergents, erythromycin and novobiocin, but not to chloramphenicol, nalidixic acid, or tetracycline. Highly attenuated in mouse in vivo growth competition assays
Abnormal sporulation resulting in asci with fewer than four spores and with abnormal spore wall morphology
Cells lacking this gene are unable to degrade salicylate
Mutants have stable FtsZ rings (PubMed:22094151). Deletion mutant is more sensitive to DNA damage (PubMed:16942606). Deletion of the gene causes a 10% increase in average cell length (PubMed:16942606). Loss of the gene does not influence the growth of M.tuberculosis in mice lungs and spleen (PubMed:22094151)
No visible phenotype, due to the redudancy with AHA2. Aha1 and aha2 double mutants are embryo lethal
Decreased germination rates, larger stomatal apertures, more rapid transpiration and decreased tolerance to dehydration stress in atx1 plants partly due to reduced ABA biosynthesis as a result of decreased NCED3 transcript levels (PubMed:21309869). Reduced trimethylated 'Lys-4' histone H3 (H3K4me3) but normal dimethylated 'Lys-4' histone H3 (H3K4me2) at NAP, XTH33, NCED3, LTP and WRKY70 nucleosomes leading to decreased transcript levels in atx1 plants (PubMed:18375658, PubMed:21266657). Lower Pol II phosphorylation (e.g. Ser5P and Ser2P) and TBP (e.g. TBP1 and TBP2) occupancy at the promoters of NCED3, LTP and WRKY70 associated with reduced gene expression (PubMed:21266657). Strongly reduced occupancy of WDR5A at WRKY70 and LTP7 genes (PubMed:23284292). Accelerated transition from vegetative to reproductive development, under both long-day and short-day conditions, especially in medium-day conditions (12 hours light / 12 hours dark), due to FLC, FT and SOC1 epigenetic misregulation; specific depletion in H3K4me3 but increased H3K27me2 associated with reduced FLC, FT and SOC1 levels (PubMed:18375656, PubMed:21245040, PubMed:24102415). Misexpression of AGAMOUS, recognizable phenotypes (e.g. small and slightly serrated leaves, and early flowering time) and loss of H3K4me3 histone H3-tail marks (PubMed:17881378). Impaired in primary root growth with irregular shape and expanded quiescent center (QC) cells (PubMed:25205583). Ectopic expression of QC-specific markers (e.g. QC46, WOX5 and SCR) in the primary RAM and in the developing lateral root primordia (PubMed:25205583). Lack of coordination between cell division and cell growth leading to atypical distribution of T-divisions, the presence of oblique divisions, and abnormal cell patterning in the root apical meristem (RAM) (PubMed:25205583). Reduced lateral root (LR) density within the branching zone (PubMed:25205583). Altered transcription levels of target genes, including several endomembrane and cell wall-associated proteins coding genes, XTH genes being up-regulated (PubMed:18375658, PubMed:19154201). Derepression of XTH33 in roots, stems and seedlings (PubMed:19154201). Increased sensitivity to osmotic or dehydration stress due to an altered expression of genes involved in response to drought in both abscisic acid (ABA)-dependent and ABA-independent pathways (e.g. COR15A, ADH1, CBF4, RD29A, RD29B, RD26, ABF3, NCED3 and ABA3) (PubMed:19901554, PubMed:21309869). Double mutant plants atx1 clf exhibits normal leaf-phenotype and flowering time (PubMed:17881378). Reduced basal levels and induction of WRKY70 and of the salicylic acid (SA)-responsive gene PR1 upon pathogen infection by Pseudomonas syringae DC3000 or after SA treatment, but increased basal levels of the jasmonic acid (JA)-responsive gene THI2.1or after JA treatment (PubMed:17965588)
Precocious flowering, asymmetric rosettes, aberrant flowers and chlorosis (PubMed:21245040). Dramatically different pattern of reduced actin bundles and absent actin transvacuolar cytoplasmic strands (TVSs) (PubMed:21245040)
Inactivation does not abolish EsxA (ESAT-6) secretion, EsxA-specific immunogenicity and enhanced virulence (PubMed:16368961). Deletion mutants multiply more efficiently compared to wild-type strains (PubMed:26228622)
Mutant mice have impaired spatial learning and memory but normal motor function
Cells lacking this gene are still able to grow in nicotine medium
Mutant mice exhibit abnormal preimplantation development. About half of the mutant embryos fail to develop into the blastocyst stage, or are delayed. Lethality is greater among female than among male embryos
No visible phenotype (PubMed:23613767). Tmk1 and tmk2 double mutants, tmk1 and tmk3 double mutants and tmk1, tmk2 and tmk3 triple mutants have no visible phenotypes (PubMed:23613767). Tmk1 and tmk4 double mutants, tmk1, tmk2 and tmk4 triple mutants and tmk1, tmk3 and tmk4 triple mutants have a severe reduction in organ size, a substantial delay in growth and development, and a decrease in fertility (PubMed:23613767). Tmk1, tmk2, tmk3 and tmk4 quadruple mutants are embryo lethal (PubMed:23613767, PubMed:24578577)
Craniofacial defects. Cartilage elements embryos do not mature and chondrocyte morphology and extracellular matrix are affected
Disrupted formation of the primitive heart tube
Impaired import of CEQORH in chloroplast inner membranes
Leads to a tenfold decrease in the amount of benzomalvins A and D, but not their complete abolishment
Not essential for growth (in strain Erdman)
Impairs aurofusarin and trichothecene biosynthesis (PubMed:22013911). Reduces deoxynivalenol (DON) biosynthesis (PubMed:22140571). Results in highly reduced sporulation (PubMed:22013911). Reduces the hydrophobicity of the cell surface (PubMed:22140571, PubMed:22013911). Shows increased resistance to osmotic stress and cell wall-damaging agents, but increased sensitivity to iprodione and fludioxonil fungicides (PubMed:22140571, PubMed:22713714)
No visible phenotype. Mice are born at the expected Mendelian ratio, develop normally and are fertile. They exhibit increased stability of some mRNA species
Mutant mice are born at the expected Mendelian rate, but all die within 10 hours after birth (PubMed:14623956, PubMed:23536097). Lethality is due to respiratory distress, caused by choanal atresia, i.e. the lack of communication between the nasal and oral cavities. Mutant embryos at 11.5 dpc lack detectable retinoic acid in the ventral retina, nasal epithelium and in the nasolacrimal groove. At 14.5 dpc mutant embryos display shortening of the ventral retina associated with lens rotation and persistence of the retrolenticular membrane, indicative of retinoic acid deficiency. Still, at 18.5 dpc the ventral retina appears normal. Embryos at 18.5 dpc lack Harderian glands, and display multiple malformations in the nasal region, including choanal atresia, lack of maxillary sinuses and nasolacrimal ducts (PubMed:14623956). Oral gavage of pregnant females with retinoic acid prevents choanal atresia and other malformations of the nasal region (PubMed:14623956, PubMed:23536097). Females that were fed retinoic acid give birth to pups with malformations of the inner ear vestibular organ, causing repetitive circling behavior with head tilting (PubMed:23536097). Likewise, mice display impaired ability in crossing a beam without slipping and an impaired ability to swim (PubMed:23536097)
Death between 12.5 dpc and 14 dpc due to liver apoptosis. Those who are born alive show growth retardation and die within 3 weeks
Flies exhibit an 'unkempt' appearance: small rough eyes, held out wings and crossed scutellar bristles
Mice show defects in motor coordination (PubMed:21208416). The cerebellar architecture, Purkinje cell morphology and electrophysiology of the Purkinje cells is apparently not affected (PubMed:21208416). Mice display impaired ability to initiate an innate immune response in response to ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose): mice injected with ADP-Heptose show no increase in cytokine production (PubMed:30111836)
Small plants with reduced leaf size. Hypoglycosylation of glycoproteins leading to ER stress and activation of the unfolded protein response (UPR). Increased sensitivity to salt stress
Clustered trichomes and multinucleated cells
RNAi-mediated knockdown in both the border cells (BCs) and follicle cells (FCs), results in the abnormal distribution of F-actin protrusions which extend from the BC cluster. However, the number of actin protrusions is not significantly affected. RNAi-mediated knockdown in the embryonic polar cells (PCs) results in BC dissociation in 63 percent of egg chambers
Embryo lethal with an arrest in development at the late globular stage in acc1-1 and acc1-2 null allele mutants. In the leaky pas3 and gk alleles, defect in embryo development, very short and thick hypocotyl and misshaped cotyledons that do not expand. Abnormal root development, abnormal fused leaves and compact rosettes with multiple shoots. Uncoordinated cell divisions in the apical region. Reduced levels of very long chain fatty acids in seeds
Cells lacking this gene result in a decreased permeability and fluidity of the cell envelope due to a drastic difference in the mycolates pattern. The parent strain makes three types of mycolates (alpha-mycolate, methoxymycolates and ketomycolates), but the mutant contains most exclusively alpha-mycolates. The mutated strain grows more slowly in the lungs, spleen and liver of mouse and is cleared more rapidly from the liver than the wild-type strain. Cells lacking this gene show also an increased production of interleukin-12p40 which probably mediated by the mycolate-containing glycolipid trehalose 6,6'-dimycolate (TDM), which is known to be secreted as a potential immunomodulator into the cytosol of infected macrophages. Inactivation of MmaA4 confers a strong TAC resistance
Embryonic lethality when homozygous, due to cell division arrest at early embryonic development stage
Death at 11.5 dpc due to major developmental defects, including notochord degeneration, imperfect differentiation of somites and neural tube, axial rotation failure and randomized heart looping
Leads to hypersensitivity to endoplasmic reticulum (ER) stress caused by the N-glycosylation inhibitor tunicamycin, but only to slight reduction of virulence (PubMed:26487566). Severely affects growth and displays an altered morphology, when the calnexin CNE1 is also deleted (PubMed:26487566)
RNAi-mediated knockdown results in sterility, and in P granule segregation defects (PubMed:18202375). RNAi-mediated knockdown increases the sterility phenotype of meg-1 vr10 and meg-1 vr11 mutants from 15 to 100% and from 4 to 93%, respectively, and results in a larger proportion of under-proliferated gonads than in the single meg-1 mutants (PubMed:18202375, PubMed:21305687, PubMed:25535836). Simultaneous RNAi-mediated knockdown of meg-1 and meg-2 results in defects in P granule disassembly in the anterior cytoplasm of the P1 blastomere causing some P granules to be mis-segregated to somatic blastomeres (PubMed:25535836)
Leads to a severe decrease in ergosterol production and virulence when ERG3A is also deleted (PubMed:23442154). Results in increased production of deoxynivalenol (DON) (PubMed:24785759)
Seedling lethal
Brain-specific USP9X deletion results in early postnatal death, whereas forebrain-specific deletion is compatible with survival to adulthood. In the absence of USP9X the cortical architecture is disorganized, and neurons display reduced neurite growth
Slow growth, reduced polysome content and reduced translational initiation in minimal medium. Mislocalization of proteasome subunits to the cytoplasm and impaired proteasome assembly, leading to the accumulation of polyubiquitinated proteins including cut2 and cdc13. Impaired mitosis and spore formation. Enhanced sensitivity to 3-aminotriazole (3AT), caffeine and thiabendazole
Mutant can use either a gluconeogenic carbon source or glucose as efficiently as the wild-type strain (PubMed:16788182). The ATP concentrations in the mutant grown in minimal medium with glucose are similar to the wild-type level. ATP concentrations slightly decrease in malate minimal medium. The mleA-maeA-malS triple mutant shows a decrease in ATP concentrations by about 20% and a moderate growth defect (PubMed:23136871). NADPH overproduction is roughly halved in the deletion mutant (PubMed:33824210)
Mutant produces less EPS and shows decrease in cellulase and protease activities
Mice show a reduction in lifespan and develop heart hypertrophy (PubMed:18239138). The mean and maximum lifespan is reduced by 59% and 55% (PubMed:18239138). Mice develop kyphosis and lose subcutaneous fat early in life; they also show a general decrease in stress-resistance mechanisms (PubMed:18239138). Mice suffer from degenerative heart hypertrophy and inflammatory cardiomyopathy (PubMed:18239138). Hearts are also characterized by an extensive fibrosis (PubMed:18239138). Mice also display multisystemic mitochondrial dysfunction, characterized by increased blood lactate levels, reduced exercise performance, cardiac dysfunction, hepatic microvesicular steatosis and age-related hearing loss (PubMed:25200183). Cells show impaired oxidative phosphorylation (OxPhos) (PubMed:25200183). A substantial proportion of mice also show perinatal lethality and an accelerated aging phenotype, probably caused by increased replication stress and impaired DNA caused repair (PubMed:27225932). Females display reduced fertility and produce fewer oocytes and ovulate fewer eggs (PubMed:31256246). Oocytes show impaired meiotic progression with reduced levels of crossovers and chromosome synapsis defects (PubMed:31256246). Mice also show severe osteopenia characterized by decreased bone formation and an increase of osteoclasts (PubMed:30026585)
Defects in inflorescence and flower development. Bop1 and bop2 double mutant displays leafy petioles, loss of floral organ abscission, and asymmetric flowers subtended by a bract
Root-hairless phenotype
Mutants display a squat body statue referred to as a dumpy phenotype and have defective HSN neuronal cell migration (PubMed:18160346). AWB sensory neurons show an expanded ciliary membrane phenotype with enhanced wing cilia and relocalized tub-1 and PtdIns(4,5)P2 to the ciliary base (PubMed:31259686). RNAi-mediated knockdown results in impaired function of the AP-2 complex and accumulation of the wntless homolog mig-14 at the cell membrane (PubMed:18160347)
EG cells fail to acquire the neural fate or underwent an extremely delayed differentiation, while EW neurons produced neurites in abnormal directions
Reduced aldehyde dehydrogenase activity toward n-tetradecanal, although cells are still able to grow on n-hexadecane to some extent
No visible phenotype under normal growth conditions, but mutant plants show enhanced resistance to salt stress
RNAi-mediated knockdown of this protein causes significant decrease in transcription levels of pyridoxal 5'-phosphate (PLP)-dependent enzymes phosphoserine aminotransferase (PSAT) and aspartate aminotransferase (glutamic-oxaloacetic transaminase) in silk gland, fat body and midgut of the fifth instar larva
Reduces virulence to caterpillars because of impaired appressoria and delayed post-infection events (PubMed:20382249). Produces a yellow-conidia phenotype with increased conidial susceptibility to heat shock and UV-B stress (PubMed:20382249)
Altered shoot apical meristem (SAM) and increased growth rates, as well as prolonged vegetative phase and delayed bolting resulting in an impairment of flowering under long days (LD). Altered expression of FLC and SOC1
In response to cardiotoxin-induced muscle injury, mutant mice show impaired inflammation resolution characterized by deficient muscle fiber regeneration and impaired clearance of necrotic cells
Inactivation of the gene results in at least 8-fold reduction in tolerance to cadaverine and putrescine but no change in tolerance to spermidine or spermine (PubMed:31416917). Deletion mutant also shows decreased chlorhexidine resistance (PubMed:29481596)
Cells are more sensitive to azole inhibition
Recessive lethal (PubMed:18245841). Heteroallelic larvae are severely developmentally delayed and most have wing disks smaller than wild-type (PubMed:18245841). Heteroallelic adult flies show defects in wing hair orientation (PubMed:18245841). Defective alpha-1,3-fucosylation (PubMed:21203496). RNAi-mediated knockdown in the eye results in reduced FucTA protein levels (PubMed:21203496)
Increases autophagy activity through accumulation of autophagy-related proteins in nutrient-replete conditions (PubMed:19779198)
Null cells fail to enter development, express low levels of cAMP receptors, are smaller than wild-type cells, are hypersensitive to nitrosoative/oxidative stress, and display slow growth on bacterial lawns
No visible phenotype under normal growth conditions, but mutant seedlings display increased tolerance to salt stress at moderate NaCl concentrations (120 mM)
Mutant embryos are peri-implantation lethal at E4.5-E5.5 stages (PubMed:29262616, PubMed:32303961). Conditional knockouts in hepatocytes do not show overall differences in liver growth but suffer from liver chronic inflammation (PubMed:32303961). Hepatocytes show nuclei enlargement with nuclear vacuolization (PubMed:32303961). Animals have bile duct hyperplasia and polycystic liver (PubMed:32303961). Males die suddenly after hepatectomy due to overactive inflammatory response (PubMed:32303961)
Mutants coi1-1 to coi1-14 are male sterile, insensitive to MeJA and coronatine, and exhibit enhanced resistance to Pseudomonas syringae atropurpurea (coronatine producing strain). Mutant coi1-16 has reduced sensitivity to jasmonate, but is male fertile when grown below 22 degrees Celsius and male sterile otherwise
Reduced plant size and grain size
Essential, cannot be deleted (PubMed:20926389). Deletion of the gene could be accomplished only with complementation by another NaMNAT or NMNAT encoding gene (PubMed:20926389)
Not required for efficient BMC formation; when deleted from an artificial operon (Hoch_5815, Hoch_5812, Hoch_3341, Hoch_5816, Hoch_4425, Hoch_4426, Hoch_5814) being expressed in E.coli, a 2-fold decrease in BMC formation is seen
Disrupted formation of tiller buds, and female sterility (PubMed:25697101). Defects in axillary bud formation, and partial defects in branching of the panicle (PubMed:25841039)
Not required for growth on rich medium. Grows slower than wild-type on beta-sitosterol (a C-24 branched side chain sterol), beta-sitosterol degradation is slower in this strain
No overt developmental defects with mutant adults appearing indistinguishable from wild-type (PubMed:31451685). Two-fold increase in H3K27me2 and H3K27me3 levels in germ cells in testis but males display normal testis-to-body weight ratio and normal fertility (PubMed:31451685). Increased H3K27me3 levels in postnatal oocytes and slight increase in the number of oocytes with lagging chromosomes (PubMed:31451685). No significant differences in the number of primordial, primary and secondary/antral follicles of pre-pubertal females but older females show a reduced number of follicles at 16 weeks (PubMed:31451685). Females have smaller ovaries and give rise to fewer progeny as they age (PubMed:31451685)
Cells show decreased but not abolished level of PSII and photoautotrophic growth
Mice homozygous for a null mutation of the CST gene born healthy and display hindlimb weakness from week 6 of age and subsequently show a prenounced tremor and progressive ataxia. Myelin vacuolation is observed in the cerebellar white matter, diencephalon, brainstem and spinal anterior column. Male mice were infertile due to a blocked spermatogenesis
Adults display microphthalmia, with eyes obscured by overgrown skin and misshapen irides. Mutants at 2 weeks of age show profound alterations in the morphology of individual photoreceptor subtypes and UV cones. At later timepoints loss of normal retinal lamination is observed, together with a disorganization of Mueller glia cells. Adults, cone photoreceptors are dysmorphic and reduced in abundance
Mice have normal brain histology
Null cells have serious developmental defects, because they are unable to activate the aggregation-stage adenylyl cyclase acaA in response to chemoattractant and are defective in chemotaxis. Cells are unable to properly polarize in a cAMP gradient
Expression of spermatogenesis-associated genes including Klhl10, Tekt2, Tdrd6 and Tnp2 are significantly up-regulated in the ovaries
Reduced hypocotyl elongation in blue light
Pupal homozygous semi-lethal (PubMed:27672113). Under nutrient-replete conditions, larvae display a significant increase in TORC1 activity and adult escapers display a small, but significant increase in body weight and a reduction in climbing (PubMed:27672113). Newly hatched males display decreased tolerance to both complete starvation and amino acid starvation, likely due to decreased triacylglyceride (TAG) storage and the inability to down-regulate TORC1 activity and activate catabolic metabolism and autophagy (PubMed:27672113). Conditional RNAi-mediated knockdown in the female germline results in a small decrease in the rate of egg production when females are provided with a protein source of wet yeast (PubMed:24786828). Females starved of amino acids for a brief period have increased numbers of degenerating young eggs and show permanent loss of fertility (PubMed:24786828). Mid-stage egg chambers are unaffected (PubMed:24786828). Double RNAi-mediated knockdown with another GATOR1 complex member Iml1 in the female germline, increases the penetrance of ovarian cysts displaying delayed mitotic exit and producing 32-cell cysts (PubMed:25512509)
Male gametophytic lethal and stunted growth associated with defects in vacuole formation leading to reduced cell expansion and autophagy-related defects in nutrient turnover (PubMed:19251905). Blocked transport of vacuolar cargo proteins with C-terminal vacuolar sorting determinants (PubMed:19251905)
Upon viral infection, increased levels of TMV-cg, tobacco rattle virus (TRV) and CMV genomic viral RNAs. Reduced levels of TMV-cg-derived small RNAs and CMV-derived siRNAs
Morpholino knockdown causes anterior neural developmental defects (PubMed:15363410). Morpholino knockdown impairs neural crest formation (PubMed:16319115). Morpholino knockdown results in impaired endoderm formation and mesoderm patterning (PubMed:17925852)
Hypersensitivity to ABA, salt and sucrose during seed germination
50-fold reduction in ability to colonize mice in competitive assays with wild-type
No visible phenotype under normal growth conditions, but mutant plants have 50-fold increase in seed Thr content and 2-fold decrease in seedling Gly content
RNAi-mediated knockdown causes embryonic lethality where embryos are arrested at the onset of meiotic anaphase I (PubMed:11728305, PubMed:12498686, PubMed:23578927). During the first meiotic cell division, homologous chromosome segregation and formation of polar bodies are impaired, and multiple centrosomes accumulate resulting from a failure to undergo cytokinesis (PubMed:11728305, PubMed:12498686, PubMed:17913784, PubMed:20116245, PubMed:21878498). During meiotic anaphase I, impaired cortical granules exocytosis resulting in the formation of a one-layered eggshell instead of the normal three-layered eggshell (PubMed:11728305, PubMed:17913784, PubMed:21878498). In oocytes, ify-1 prematurely enters the nucleus prior to the nuclear envelope breakdown and fails to associate with chromosomes during meiosis I without affecting its spindle association (PubMed:23578927). Prevents histone H3-like cpar-1 cleavage at the onset of meiotic anaphase I and during embryonic mitosis (PubMed:25919583). In addition, in the one-cell embryo, causes defects in embryonic anterior-posterior polarization characterized by a failure of cortical association and posterior positioning of the paternal pronucleus and the mislocalization of par-2 and pie-1 (PubMed:11832245). During the first embryonic mitosis, abnormal accumulation of rab-11 at the cleavage furrow and midbody and furrow regression resulting in a failure to complete cytokinesis (PubMed:20116245)
Slower embryogenesis and several developmental defects including aberrant vein patterning, pointed first and second leaves, smaller rosettes and shorter roots
Does not affect the methylation of the naphthoquinones derived pigments and only abolishes the production of pleosporalin A but not of the 2 other final products
Abolishes the production of ergosterol (PubMed:18310029). Leads to susceptibility to cycloheximide and to staurosporine, but does not affect tolerance to nystatin and to amphotericin B (PubMed:18310029)
Inactivation of the gene causes a significant reduction in the surface-associated motility and virulence (PubMed:28507065). Mutant has 2- to 4-fold higher susceptibility to novobiocin and trimethoprim, and 8- to 32-fold higher susceptibility to the quinolone-type antibiotics nalidixic acid, levofloxacin and ciprofloxacin (PubMed:29941648). Mutation does not affect susceptibility to beta-lactams, aminoglycosides, macrolides and polymyxins (PubMed:29941648)
Knockout mice are viable, fertile and grossly phenotypically normal (PubMed:10802659). 50% reduction in maximal rod photoreceptor response at 9 months of age (PubMed:10802659). Progressive thinning of the retinal outer nuclear layer becomes evident at 1 month of age (PubMed:10802659). Evidence of rod photoreceptor degeneration, shortened rod outer segment (ROS) length, increased ROS disk diameter, and progressive disorganization of the ROS at 1 month of age, leading to near-complete loss of organization by 2 months of age, however organization returns to near normal levels by 4 months of age (PubMed:10802659). Rod photoreceptors progressively die by apoptosis (PubMed:10802659). Knockout does not affect localization of Prph2 or Abca4 to ROS disk rims (PubMed:10802659)
Male-specific transmission defect due to incorrect deposition of cell wall components and proteins during pollen tube elongation, thus leading to disrupted pollen tube growth (PubMed:27448097). Embryo- and seedling-lethal associated with white seeds in siliques, delayed embryo development from the early stages, arrested at heart stages and resulting in abnormal curled cotyledons (PubMed:27448097). Altered Golgi bodies morphology (PubMed:27448097). Impaired Gamma-COP and TMN1/EMP12 tight association with the Golgi (PubMed:27448097)
When both FocA and FocB are missing, an unidentified system can transport formate
Cells lacking this gene completely fail to grow on cholesterol due the blockage of the catabolic pathway and develop a pink color consistent with the accumulation of toxic catechols. Mice intravenously infected with the mutant survive substantially longer than those infected with the wild-type
Cells lacking this gene accumulate coproporphyrin-III only under anaerobic conditions, however no obvious respiratory growth phenotype is observed under anaerobic conditions. The hemN hemZ double mutant do not abolish aerobic and anaerobic respiratory growth, however a reduction of growth is observed
Complete loss of the ability to grow on D-threitol
Roots of knockout plants form few aborted and non-functional nodules under nitrogen limitation when inoculated with Mesorhizobium loti (PubMed:17071642, PubMed:23926062, PubMed:24329948). Low level of arbuscular mycorrhizal (AM) colonization in roots inoculated with the AM fungus Rhizophagus irregularis (PubMed:23926062)
Leads to hyper-resistance to cell wall stress agents such as calcofluor white and Congo red
Impairs the O-methylation of C7 of the heptaketide monomer
Growth auxotrophic for adenine (PubMed:34416230). Avirulent in a mouse inhalation infection model (PubMed:34416230). Does not appear to affect production of the virulence factors melanin, protease, urease, or phospholipase B, or on capsule formation (PubMed:34416230)
Leaves polarity and growth defects
No visible phenotype, due to the redundancy with SEC10b
Amoeba grow as very small cells in suspension culture. They have reduced levels of F-actin staining during vegetative growth, and abnormal cell morphology and actin distribution during chemotaxis
Spl15 mutant plants fail to flower after vernalization
No visible phenotype. No decrease in uracil phosphoribosyltransferase activity
Increased levels of flagellins FlaA and FlaB (PubMed:27353476). In double csrA-fliW deletions flagellin levels are slightly lower than wild-type (PubMed:27353476)
Mutants contain only mono- and disaccharide-modified phosphodolichols and exhibit defective or limited motility
Cells accumulate excess amounts of norsolorinic acid (NA) and a small amount of norsolorinic acid anthrone (NAA)
Mutation does not produce a noticeable phenotype or alter the drug resistance profile and the hemolytic activity of A.actinomycetemcomitans
Severe plant growth defects, such as short root phenotype, retarded growth and dwarf phenotype
Cxxc1 knockout male mice are fertile. In contrast Cxxc1 germ cell-specific knockout female mice are sterile
Mutants are unable to secrete VasX
No apparent phenotype up to 16 dpc. Lethality late during gestation or at birth, due to widespread bleedings. This is due to a severe shortage of vascular smooth muscle cells and pericytes, especially in the central nervous system, skin, lung and heart. Mutants suffer from hemorrhages, anemia, thrombocytopenia, and show defects in the formation of kidney glomeruli, due to a lack of mesangial cells
At 3 dpf, mutant embryos show no visible abnormalities compared to wild-type embryos. They do not display any ocular abnormalities at 5 dpf. They nevertheless exhibit elevated levels of D-lactate, but not L-lactate compared to wild-type larvae
Great reduction of anthocyanin pigments in the vegetative parts and brown pigments in the seed coat. Accumulation of unextractable proanthocyanidins
Mutants have an egg-laying defect and reduced brood size with 20.8% displaying embryonic lethality whilst 28.38% arrest at the larval stage. Recombination intermediates accumulate in mid pachytene nuclei resulting in delayed meiotic double stranded break repair. Irregular polar body extrusion from the egg pronucleus and localization following meiotic divisions which can lead to aneuploidy in the embryo. Altered meiotic chromosomal organization due to shorter axial elements in late pachytene nuclei. Defective chromatin remodeling in late pachytene meiotic chromosomes characterized by increased cohesin associated with diplotene chromosomes, but reduced association in late diakinesis oocytes, changes in axial element composition including absent axial element coiling, accumulation of cohesin and a more linear appearance of axial elements, and altered disassembly of the synaptonemal complex in diplotene and diakinesis oocytes (PubMed:26841696). RNAi-mediated knockdown leads to aberrant localization of the cohesin component scc-1 to mitotic metaphase chromosomes (PubMed:18202360)
Modest growth deficit (PubMed:28242692). Suppresses slow growth rates of spores and severe nuclear envelope (NE) morphology defects of vps4 mutants (PubMed:18692466)
Loss of amidase activity on mycothiol bimane, leading to dramatically decreased levels of N-acetylcysteinyl bimane. Increased sensitivity to a number of alkylating agents and antibiotics including N-ethylmaleimide and lincomycin
Not essential. Cells have altered colony morphology, lacking cording associated with virulence
RNAi-mediated knockdown causes multiple defects, including embryonic lethality, slow larval growth, abnormal tail morphology, constipation, abnormal vulva, and abnormal pharynx
No visible phenotype in normal conditions (PubMed:30510070). Mice show increased inflammatory response in mouse models of arthritis and inflammation (PubMed:30510070)
When this gene is missing the Wadjet system does not confer plasmid-transformation resistance in B.subtilis
Cells lacking this gene are unable to grow on L-arabinose as a sole carbon source but grow on a nutrient-rich medium or D-glucose at the same growth rate as the wild-type strain. Moreover, both the wild-type and the mutant strains can grow on D-glucarate or D-galactarate as a sole carbon source
Cells lacking this gene show a marked decrease in the formation of methyl mercaptan from L-methionine and decreased virulence compared with the wild-type strain W83. The hydrogen sulfide content in the culture supernatants of mutant and wild-type strains is similar
Larger root systems when grown under nitrogen-limiting, acidic, osmotic stress (e.g. mannitol) and high salt conditions, as well as in the presence of sucrose and under decreased or increased light irradiance. Reduced the lateral root density at low temperature (16 degrees Celsius). Increased root and shoot growth when grown hydroponically
Mutant shows a 10-fold decrease in resistance with glutamate
Mice display reduced glucose-6-phosphate hydrolytic activity in the brain. No phenotypic difference was noted at birth but 4 months old female mice display growth retardation. Mutant mice exhibit a decreased plasma cholesterol concentration and an increased plasma glucagon concentration but no difference in blood glucose concentration (PubMed:17023421). Mice display neutropenia and neutrophil dysfunctions
RNAi-mediated knockdown results in an increase in survival rate in anoxic conditions (PubMed:21212236). Upon infection by P.aeruginosa and E.faecalis, RNAi-mediated knockdown results in a moderate reduction in the up-regulation of gst-4 and gcs-1 expression (PubMed:22216003). Causes a severe reduction in rnt-1 accumulation in the intestine during oxidative stress mediated by paraquat (PubMed:22308034)
Disruption in the biosynthesis of ER-derived thylakoid lipids, and accumulation of oligogalactolipids, triacylglycerols (TAGs), and phosphatidates (PAs). Reduced growth with stout leaves and siliques. Impaired embryogenesis
No visible phenotype under normal growth condition, but reduced responsiveness of hypocotyls to light and increased responsiveness to brassinolide (BL). Strong reduction of C-26 hydroxylase activity
Heterozygous mice are fertile and produce homozygous pups at the expected Mendelian rate, but about 15% of the homozygous males die between 3 and 12 weeks after birth. Mice are deficient in CRF-mediated secretion of ACTH and show no increase in intracellular cAMP levels in response to CRF. Mice display a marked decrease in the size of the zona fasciculata of the adrenal gland, where corticosterone is produced, and have very low plasma corticosterone levels. Mutant mice display reduced anxiety. They fail to produce increased levels of ACTH and corticosterone in response to stress, contrary to wild type mice. Homozygous mice are fertile, but almost all of the pups die within 48 hours after birth, due to defects in lung inflation and alveolar collapse. Treatment of pregnant females with corticosterone-containing drinking water results in normal lung maturation and normal survival of their progeny
No germination or growth inhibition, but delayed storage oil mobilization. Decreased sensitivity to 4-(2,4-dichlorophenoxy)butanoic acid (2,4-DB), a precursor converted in vivo by beta-oxidation into the herbicide 2,4-dichlorophenoxyacetic acid (2,4-D). Enlarged peroxisomes
Deletion of the gbsAB genes abolishes the choline-glycine betaine synthesis pathway and the ability of B.subtilis to deal effectively with high-osmolarity stress in choline- or glycine betaine aldehyde-containing medium
Impairment of body growth. Lethal in combination with Rps6kb2 deficiency
Narrow, serrated and flat rosette leaves, early flowering, weak apical dominance and reduced fertility, partially due to defect in cell proliferation (PubMed:18485060). Reduced seed weight (PubMed:24585836)
Mice are grossly normal with no alterations of pigmentation, central nervous system pathology or body weight. In contrast, constitutive expression of Atrnl1 in mice lacking Atrn display normal, agouti-banded hairs and significantly delayed onset of spongiform neurodegeneration, indicating that overexpression of Atrnl1 compensates for loss of Atrn
Viable and fertile with no obvious phenotype (PubMed:19158395). Loss of Cajal bodies (CBs) in the nurse cells, spermatocytes, ejaculatory ducts (PubMed:19158395). Loss of CBs in the adult Malpighian tubule cells (PubMed:19158395, PubMed:19846657). Histone locus bodies (HLBs) in the same cell types are present and not affected (PubMed:19158395). In stage 8-9 oocytes, the single CB present in the germinal vesicle is unaffected (PubMed:19158395)
Exclusive loss in nociceptors results in a reduction in nociceptor number and size with a reduced epidermal innervation, but increased sensitivity to cold and increased formalin-induced pain
Inactivation of this gene results in an altered colony morphology, reduced levels of PI dimannoside (PIM2), and altered permeability of the cell wall
Dwarf phenotype with panicle enclosure, reduced seed set and outgrowth of axillary buds from culm nodes
Collapsed, globular, or grape-like mitochondria
Decreases significantly the amount of tumors produced during host maize infection
The double deletion of DDI2 and DDI3 compromizes cellular resistance to cyanamide by impairing its metabolization
Cells display deregulation of thiamine biosynthesis and impaired export of thiamine products from the cell
Low seed dormancy and short hypocotyls (PubMed:23893171). Suppresses max2 phenotypes associated with karrikin-KAI2-regulated growth (PubMed:26546447). Smax1 and smxl2 double mutants have substential reduction in hypocotyl elongation (PubMed:26754282)
Flies show axon guidance abnormalities in mushroom bodies and pathfinding errors by photoreceptor and subesophageal neurons. Female flies with retn defects are strikingly resistant to male courtship and show male-like courtship of females and males, especially as they age
Cells lacking this gene completely lose the ability to grow on 4-NP, 4-NCA, and hydroxyquinol
RNAi-mediated knockdown results in delayed primordium formation (PubMed:31655558). RNAi-mediated knockdown in mycelia results in resistance to H2O2 (PubMed:31655558)
No visible phenotype. Mutant mice show altered follicular-versus-marginal zone B-lymphocyte fate decision in the spleen and decreased numbers of B220+ lymphocytes in the bone marrow
Leaf-curling phenotype. Root growth inhibition, root gravitropic response, and hyposensitivity to exogenous auxin. Fab1a and fab1b double mutant displays an abnormal vacuolar phenotype late in pollen development leading to inviable pollen (PubMed:19846542)
Cells lacking this gene lack nucleoside m2A in both rRNA and tRNAs. Inactivation of rlmN produces an error-prone phenotype since it increases the misreading of a UAG stop codon, and thus decreases translational accuracy. Also leads to increased susceptibility to tiamulin, hygromycin A and sparsomycin
Mutants show a significant decrease in the amount of dienoic acids with a concomitant increase in their monoenoic acid precursors, and have an increased tolerance to heat shock
A quadruple peptidase disruption (pepA, pepB, pepD and pepN) does not grow in M9 minimal medium, does grow better when supplemented with casamino acids (PubMed:20067529)
RNAi-mediated knockdown causes a defect in pachytene progression resulting in a proximal gonad devoid of nuclei. The phenotype is more severe in gck-1 (km15) mutant (PubMed:19826475). RNAi-mediated knockdown in adults decreases lifespan (PubMed:20624915)
Decreased sensitivity to dramatic intracellular increases of ppGpp. Cells missing mazE-mazF survive high temperature, various DNA-damaging agents and H(2)O(2) exposure better than wild-type cells. Cells missing mazE-mazF produce more P1 phage than wild-type cells, while introduction of lysogens into a growing non-lysogenic disruption culture is lethal (PubMed:15316771). Cells missing mazE-mazF show reduced biofilm formation, and survive antibiotic treatment in log phase better than wild-type cells (PubMed:11222603, PubMed:19707553). However lag phase cells disrupted only for mazF had a lower survival rate than wild-type cells (PubMed:24375411). Cells missing mazE-mazF survive hydroxyurea treatment better than wild-type; further disruption of relE-relB and tonB yields even better survival (PubMed:20005847). Cells missing mazE-mazF undergo an apoptotic-like death (ALD) upon DNA damage characterized by membrane depolarization and DNA fragmentation; further disruption of recA prevents membrane depolarization (PubMed:22412352). Unlike the single srkA disruption mutant, a triple srkA-mazE-mazF disruption mutant shows no hyperlethality in the presence of nalidixic acid or UV light, suggesting SrkA has a negative effect on MazF (PubMed:23416055)
An insertion in this gene leads to rod-shaped carboxysomes and an inability to grow in normal air, called a high-CO(2) requiring phenotype, HCR. When ccmL-ccmM-ccmN-ccmO are deleted no carboxysomes form, cells are HCR and RuBisCO is soluble. Both mutants grow on 2% CO(2)
Essential for sporulation, decreases sporulation 100 to 1000-fold, aggregation is defective
Null cells displays higher PP2A phosphatase activity compared with the wild type, around 10 hours of delayed expression of ecmA and ecmB prestalk markers, inefficient culmination and higher GSK3 kinase activity
Defective touch receptor neuron synaptic transmission with reduced levels of rab-3 at synapses, conferring touch insensitivity. Irregular touch receptor neuron shape. The heterozygous mutant, but not the null mutant, rescues the touch sensitivity defect in the mec-15 single mutant
At 10 months of age, mutant animals show signs of photoreceptor dysfunction. The progressive loss of cone function is followed by cone cell death, while in rods, the outer segment length id reduced, but not rod cell death is not observed. At 12 months, mice present a stronger age-dependent impairment of fine odor discrimination than their wild-type counterparts
Inactivation of the gene impairs growth on low concentrations of di-valine
Dwarf, twisted leaves and enhanced disease resistance in cv. Columbia when grown at 22 degrees Celsius. No visible phenotype when grown at 28 degrees Celsius, or in cv. Landsberg erecta, cv. No-0, and cv. Wassilewskija at any temperature. Humidity and temperature sensitive lesion mimic phenotype, accelerated hypersensitive response (HR) and increased disease resistance. Bon1 and bon2 double mutants, as well as bon1 and bon3 double mutants are seedling-lethal when grown at 22 degrees Celsius. bon1, bon2 and bon3 triple mutant is seedling-lethal at any temperature
Loss of cell division and lethal in fibroblasts
No visible phenotype when grown on glucose
Abolishes the production of 15-deoxyoxalicine B and accumulates decaturin D and decaturin G
Arrested cell division in the G1 phase during larval development (PubMed:25562820). RNAi-mediated knockdown results in an arrest at L2 stage which is associated with uncoordinated movements, a slightly shorter and stouter body morphology, growth arrest and premature death (PubMed:10518501). In addition, during larval development, cell division is impaired in P blast cells and mesoblast M cells due to an arrest prior to S phase (PubMed:10518501). Lack of cell division in somatic gonad precursors Z1 and Z4 which is associated with a failure to maintain germline proliferation resulting in an abnormal gonad development (PubMed:10518501). At the late embryonic stage, intestinal cells fail to divide without affecting endoreduplication which results in 4n DNA cellular content (PubMed:11684669). Mutants show slightly stronger defects including the development of only two enlarged embryonic coelomocytes (PubMed:11684669, PubMed:15708572). Double knockout with lin-35 rescues the cell cycle progression defect in the single cyd-1 mutant (PubMed:11684669, PubMed:25562820)
Increases sensitivity calcium and to oxidative stress factors, such as paraquat and H(2)O(2) (PubMed:22345349). Leads to attenuated virulence in a murine model of invasive pulmonary aspergillosis through increased killing by the murine alveolar macrophages (PubMed:22345349). Increases the expression of the fumiquinazoline (fmq) cluster and leads to overproduction of fumiquinazoline C (PubMed:33705521)
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Causes only mild infection in point-inoculated spikelets of flowering wheat heads and impairs the spreading to nearby spikelets (PubMed:28894236)
Deletion mutant cannot secrete the effector proteins SseB, SseC, SseD, SseF, SseG and SseJ (PubMed:24722491, PubMed:25035427). Mutant is also defective for the secretion of the translocon proteins SseC/SctE and SseD/SctB (PubMed:25035427). Mutant shows decreased virulence in the mouse model of systemic infection (PubMed:24722491)
Partial male-specific transmission defect due to aberrant pollen tube growth (PubMed:28356503). Stop-and-go growth dynamics where phases with abnormally high growth rates are interrupted by pollen tube tip bursts associated with decreased thickness of the tip cell wall and recovery, ultimately resulting in pollen tube rupture; this phenotype is partially rescued by the phospho-dead (PD) mutant A-212; A-215; A-217; A-446; A-494 and A-605, but not by the phospho-mimetic (PM) mutant E-212; D-215; D-217; E-446; D-494 and D-605 (PubMed:28356503, PubMed:33519861). Complete inactivation of pollen-specific transmission due to abnormal pollen tube growth in plants lacking both EXO70C1 and EXO70C2 (PubMed:28356503)
Perinatal death due to a reduction in fused muscle fibers (PubMed:28569745). Embryos are motionless and lack skeletal muscle: they are nearly transparent so that internal organs and bones are apparent (PubMed:28386024). Myocytes differentiate and harbor organized sarcomeres but are fusion-incompetent (PubMed:28386024, PubMed:28569745, PubMed:28569755). Myoblast fusion is impaired downstream of membrane lipid mixing step mediated by Mymk and defects caused by the absence of Mymx are due to impaired fusion pore formation (PubMed:30197239). Conditional deletion in activated muscle stem cells (satellite cells) in adults abolishes satellite cell fusion and prevents muscle regeneration, resulting in severe muscle degeneration after injury (PubMed:29581287)
Defects in vascular organization and phloem differentiation in inflorescence stems, characterized by aberrant accumulation of highly lignified cells, typical of xylem or fiber cells, within the phloem, and phloem cells sometimes adjacent to xylem cells. Malformed vascular cells files, probably due to defects in oriented cell divisions or cell morphology, and leading to both phloem specification defects and disrupted xylem vessel formation. Short inflorescence stems and increased anthocyanin accumulation in leaves (PubMed:21853254). Reduced total lateral root density, due to a reduction in stage I and II lateral root primordia and, to a lower extent, to fewer emerged lateral roots. Impaired sensitivity to CEP5 with respect to root growth regulation (PubMed:27296247). Growth retardation accompanied with nitrogen (N)-deficiency symptoms. Slight enhanced lateral root elongation in simple mutant. The double mutant cepr1 cepr2 is insensitive to CEP1 in a root growth regulation and exhibit pleiotropic phenotype characterized by pale-green leaves and enhanced lateral root elongation. At adult stage, smaller rosette leaves and shorter floral stems, accompanied by anthocyanin accumulation. Down-regulation of genes involved in N uptake and assimilation pathways (e.g. NRT1.1, NRT2.1 and NRT3.1) leading to impaired nitrate uptake activity. Altered systemic induction of genes involved in N uptake and assimilation pathways in N-depletion conditions (PubMed:25324386)
Morpholino knockdown of the protein results in a complete inhibition of the segmentation of the presomitic mesoderm
Mice are more susceptible to death triggered by polyinosinic:polycytidylic acid, LPS and S.typhimurium (PubMed:26392463). Increased TLR3/4-mediated cytokine induction (PubMed:26392463)
Growth defect. Failure to aggregate. Slower migration. Leads to increased F-actin polymerization. Unable to suppress lateral pseudopod formation and turning. Having a direct on PI(3,4,5)P3/PI(3,4)P2 levels. Significant increase in chemoattractant-mediated activation of pkbA and a decrease in chemotaxis speed
Cells do not exhibit a phenotype under high-aeration respiratory growth conditions. In contrast, under low-aerated respiratory growth conditions, the absence of BchE leads to an accumulation of MgPMME
Early flowering under short-days conditions (SD) when combined with AGL18 disruption. Decreased ability to produce somatic embryos in vitro
Cells lacking this gene grow on 40-fold higher concentrations of the tryptophan analog 5-fluorotryptophan than the level that inhibits the wild-type strain
Loss of transformation (PubMed:9535083, PubMed:10223974, PubMed:12123453, PubMed:14617176). Imported DNA is very rapidly degraded (PubMed:14617176)
Depletion results in abnormal membrane phospholipid composition, defects in cell division and cell death
Abnormal and deformed fish at 6 dpf
The double mutant iqd13 iqd14 exhibits abnormally large and round secondary cell-wall pits in roots metaxylem vessels
RNAi-mediated knockdown prevents muscle degeneration caused by bacterium A.dhakensis-mediated infection (PubMed:28101079). RNAi-mediated knockdown prevents neuronal degeneration in a mec-4(u231), deg-1(u38) or gsa-1(Q227L) gain-of-function mutant background (PubMed:12410314)
Increased susceptibility to virulent Pseudomonas syringae
Lethal at the pupal stage with stronger phenotype with temperature increase (PubMed:32275884). Impairs sensory dendrite tiling on the larval body (PubMed:32275884). In escapers flies, leads to decreased negative geotaxis and seizures (PubMed:32275884)
Worms exhibit slow postembryonic growth
Albino seedlings lacking plastid ribosomes
Cannot be disrupted; as the protein decreases in cells 70S ribosome formation decreases rapidly, with concomitant loss of uS2, uS3 and YugI (general stress protein 13) proteins from the 30S subunit
Knockout mice have smaller thymuses than wild-type animals, and T-cell lymphopenia due to defects in T-cell maturation and population expansion in the thymus (PubMed:17028588). Mice show impaired passive systemic anaphylaxis and histamine release upon challenge with the specific antigen
Narrow rosette leaves. Single shoot bearing a terminal inflorescence. Abnormal inflorescence with infertile flowers and filamentous organs
Late larval or pupal lethality with mutants showing defects in cytokinesis in both mitotic and meiotic cells, abnormal accumulation of F-actin in mature primary spermatocytes, and defective aster migration where the asters remain in close proximity to each other rather than separating from each other and migrating around the periphery of the nuclear envelope as in the wild type (PubMed:8522587). Failure of terminal filament formation in the ovary at the third larval instar at 25 degrees Celsius but formation occurs at 18 degrees Celsius (PubMed:11175754). Significantly thinner retina than controls, significantly increased F-actin levels in pupal eye disks and defective rhabdomere morphogenesis (PubMed:18423434). Defective mushroom body neuroblast proliferation with newly hatched larvae containing significantly fewer neurons than controls and severe axon growth defects with mutants failing to extend axons beyond the peduncle (PubMed:15572110). RNAi-mediated knockdown in the wing results in increased F-actin levels, altered subcellular location of the transcriptional coactivator yki, strong expression of the yki target genes wg and ex, cell extrusion from the basement membrane, reduced levels of the junction proteins dlg1, arm and shg, up-regulation of Rho1, apoptosis and JNK signaling (PubMed:27041568)
Single non-polar gene mutation and deletion of the probable mms6 operon (amb0955, mms6 and mmsF) leads to weak magnetic response and much smaller, elongated magnetite crystals (PubMed:22716969). Vesicles that are probably empty precursor magnetosomes are present and can grow to wild-type size (PubMed:26884433)
Mice were born at the expected Mendelian ratio, but fail to feed normally, exhibit gross bowel distension due to small bowel obstruction and die within 2 days post partum. Some, but not all, of the animals also have reduced pancreas size. pancreata had almost no expression of the islet hormones genes, except for PP (polypeptide-producing)
Cells lacking this gene are unable to grow on ectoine as carbon and nitrogen sources and accumulate N-alpha-acetyl-L-2,4-diaminobutyrate (N-alpha-Ac-DABA)
Abolishes the production of most pyranterreones, but accumulates pyranterreones 7 and 8
No visible phenotype under normal growth conditons, but mutant plants accumulate high levels of glycerol, can grow on synthetic medium containing glycerol and have increased resistance to salt, cold, osmotic and drought stresses
Normal benzenoid scent profile in flowers
Chloroform inhibits the growth of the wild-type strain, but not the growth of the PCE-nondechlorinating small deletion (SD) and large deletion (LD) variants, where the former fails to transcribe the pceABC genes caused by a deletion of the promoter and the latter lost the entire pceABCT gene cluster
Shows slow growth and respiration defects in minimal medium. Shows growth defects in acetate-supplemented medium; the phenotype is enhanced by addition of hydrogen peroxide (increased oxidative stress) and/or double knockout of YHM2 and ZWF1. The cytosolic NADPH/NADP(+) ratio is decreased compared to wild type; this effect is enhanced in the presence of hydrogen peroxide. The mitochondrial NADPH/NADP(+) ratio is increased, but only in the presence of hydrogen peroxide. Levels of cytosolic citrate are reduced, but only in the presence of hydrogen peroxide. Levels of cytosolic oxoglutarate are reduced, but only in the presence of hydrogen peroxide; the effect is enhanced by double knockout of YHM2 and ZWF1. Cells show a very small increase in levels of reactive oxygen species (ROS) following hydrogen peroxide treatment; in double knockouts of YHM2 and ZWF1 there is a large increase in ROS. Overexpression suppresses the temperature-sensitive growth defect of ABF2 in glucose-rich medium
A double rsbW-sigF disruption shows no effect in the presence or absence of rifampicin
Does not affect the production of iso-A82775C
Decreases concentration of citric acid and increases concentration of oxalic acid in growth medium
Increases radial growth, remediates the germination defect of a laeA deletion, and increases virulence in the G. mellonella model of invasive aspergillosis
Floral organ defects such as reproductive-to-perianth organ transformation and loss of floral determinacy
Mice lacking Clstn1, Clstn2 and Clstn3 display behavior disorders, characterized by hyperactivity in normal environment, hypersensitivity to stress, and show tendency to freeze in novel environments
Flies display a structurally abnormal 'filzkoerper' part of the posterior spiracles. They die during larval stage, possibly due to spiracular defects
Abolishes the production of terreic acid (PubMed:25265334)
Impairs growth on galactose
Slight defects in platelet function
Abolishes the production of coprinoferrin and fails to form fruiting bodies
Disruption results in slow growth. A triple higB1-higA1-Rv1957 disruption mutant has no visible phenotype
Cells lacking this genes can transform cholesterol but is unable to metabolize it sufficiently to support growth. 4-cholesten-3-one is accumulated when incubated in the presence of cholesterol
Lack of methylation of cytosine at position 1962 (m5C1962) of 23S rRNA
Incorporation of the inositol pathway-derived monosaccharides is strongly reduced in knockout AtMIOX2 seedling walls
Inactivation of the gene has essentially no effect on cell growth in rich or minimal medium but results in a drop in pNPP hydrolysis in the crude extracts of B.subtilis cells to undetectable levels
Deletion positively influences motility while it has a negative effect on biofilm formation
Cells lacking this gene lack archaeosine in tRNA and accumulate preQ0-modified tRNA
Decreases cellular chitin level (PubMed:16278457). Abnormal capsular morphology: lower fiber density, abnormal fiber distribution, decreases capsular diameter (PubMed:32743128). Increases extracellular vesicle secretion (PubMed:32743128). Sensitive to high temperature (PubMed:16278457)
RNAi-mediated knockdown results in hypersensitivity to the acetylcholinesterase inhibitor aldicarb, indicating increased cholinergic transmission in mutant animals
No visible phenotype under normal growth conditions (PubMed:21242318). The UV-B responsiveness of the double mutant dhu1-1 rup1-1 is similar to that of the single mutants dhu1-1 and rup1-1 (PubMed:28735869)
Viable however, rhabdomeres are flat and oblong, and alignment or organization of the microvillar projections along the depth of the retina are not maintained (PubMed:32579558). Severity of the phenotype increases with age, by seven days post-eclosion rhabdomeres have become irregular, misaligned and fragmented structures (PubMed:32579558). The phototransduction proteins ninaE and, to a much lesser extent, didum are displaced from vesicles near the rhabdomere terminal web and instead become mislocalized to the basal lateral membranes (PubMed:32579558). Photoactivation of ninaE and phototransduction are unaffected, and amplitudes of light response is enhanced at higher light intensities (PubMed:32579558)
Mutants show anomalies in the chromosome number of male germ cells, leading to aneuploidy and severe developmental defects in their progeny
No visible phenotype. Uch1 and uch2 double mutants are less fertile, accumulated less chlorophyll and have slightly fewer and shorter cauline branches
Silencing prevents ventricular remodeling in rats after myocardial ischemia-reperfusion injury by activating the mTOR signaling pathway
Mice show a reduction in tissue-resident memory T (Trm) cell population maintenance in the skin, gut, liver and kidney but not of splenic T-cells (PubMed:22885984, PubMed:27102484). Double knockouts for Znf683 and Prdm1/Blimp1 result in a stronger inhibition of Trm cell population maintenance (PubMed:27102484). Display an enhancement of natural killer T (NKT) cells migration preferentially to the white pulp of the spleen in response to chemotactic stimuli (PubMed:27102484). Also results in the derepressed expression of a large number of genes implicated in the egress of tissue-resident T-cells from non-lymphoide organs (PubMed:27102484)
Knockout mutant no longer produces curli, is mannose-resistant haemagglutination (MRHA) negative and produces smooth white colonies on Congo red agar
Non-essential gene, 100S ribosome dimers are not formed, decreased cell viability during stationary phase (PubMed:8440252). A quadruple raiA-hpf-rmf-sra knockout strain is significantly outcompeted by wild-type after 4 days growth (PubMed:17277072). Very high sensitivity to aminoglycoside antiobiotic gentamicin in stationary phase cultures (PubMed:26324267)
Impairs growth on galactose, leads to low viability on glucose containing G418, and leads to strongly sensitivity to antimycin A on glucose medium
RNAi-mediated knockdown in the mushroom bodies results in a reduction in long-term memory performance, but does not affect anesthesia-resistant memory (ARM) or learning ability
Complete embryonic lethality (PubMed:15178683). Mice with conditional knockout of ATP2B1 in enterocytes, are born at a lower frequency and are smaller at birth and into adulthood than wild-type. At two months of age, mice have a decreased bone mineral density (PubMed:26392310). Mice with conditional knockout of ATP2B1 in vascular smooth muscle cells (VSMCs) are born at the expected Mendelian ratio and grow normaly but have a higher blood pressure than wild-type under resting conditions (PubMed:22311909). Heterozygous ATP2B1 mice are hypertensive and exhibit hypocalcemia and a higher bone mineral density (PubMed:29950683)
Delayed flowering
Contradictory results have been described and may be due to differences in the methods used for gene disruption (PubMed:24368846, PubMed:25645914). No visible phenotype, but decreased 3-hydroxyproline formation in collagen COL4A1 and COL1A1 (PubMed:25645914). Full embryonic lethality; the vast majority die before 8.5 dpc (PubMed:24368846). The embryos appear normal, but are surrounded by maternal platelet aggregates and blood clots that form at about 6.5 dpc, resulting in embryonic death (PubMed:24368846). Maternal platelet aggregation is triggered by interaction between maternal Gp6 and embryonic type IV collagen that lacks 3-hydroxyproline (PubMed:24368846). Likewise, pregnant females deficient for Gp6 and P3h2 that bear embryos deficient in P3h2 and heterozygous for Gp6 do not produce any live offspring (PubMed:24368846). In contrast, mutant mice deficient in Gp6 and P3h2 are born at the expected Mendelian rate and have no visible phenotype (PubMed:24368846)
Does not produce mature length crRNA; precursor is non-specifically degraded. No accumulation of the CRISPR leader-repeat transcript. Allows excision of defective provirus 1 from its chromosomal locus (detected as restoration of the attachment site attA)
Developmental defects, semi-dwarf phenotype and reduced growth
Mice embryos lacking isoform Ptx2c show left-right patterning defects and severe developmental abnormalities
Mice are anosmic (inability to perceive odors) and have defective olfactory cilia. Significant reduction in olfactory sensory neurons ciliation in the olfactory epithelium with decreased cilium length and number. Impaired cilium localization of the BBSome complex
Deficient mice exhibit significant differences in lactate concentration and pH in the retina and display reduced visual function
Cells lacking this gene are unable to produce balhimycin
Animals do not display major developmental phenotypes. They suffer from anemia with lower hemoglobin levels compared to controls. They have increased proliferation of B cells
Deletion mutant is susceptible to streptothricin
Moderate decrease in global protein S-glutathionylation
Leads to deficient autophagy (PubMed:28800850). Impairs conidial germination under starvation conditions, conidial longevity, and ascospore maturation (PubMed:28800850)
Worms lacking cpg-1 and cpg-2 exhibit defects in cytokinesis during embryo development, more specifically meiotic chromosome segregation, polar-body extrusion, osmotic barrier function and polarization. Embryos lacking cpg-1 and cpg-2 proteins have multiple nuclei lacking plasma membranes and may also have weak egg shells. Oocytes lacking cpg-1 and cpg-2 show cortical granules that are reduced in size
Disruption does not affect lambda lysogeny or the transposition frequency of transposable elements
Cytokinetic defects when knocked out with mhcA. Aberrant epithelial organization and localization of exoc6. Mis-localization of myosin in the tip epithelium causing actomyosin ring malformation in stalk, which appears significantly wider. Distribution of Golgi and centrosomes not polarized. Abnormal intracellular distribution of dcsA
Mutant mice are born at the expected Mendelian ratio, are fertile, and have no apparent phenotypic abnormalities. They are protected against chronic autoimmune and allergic reactions, as observed in models of spontaneous or induced rheumatoid arthritis, experimental autoimmune encephalomyelitis and chemical allergen-induced contact hypersensitivity (PubMed:19144317). In a model of acute intestinal injury, mutant mice show epithelial disruption, presence of abscesses associated with enhanced bleeding into the mucosal lumen and increased cellular infiltrate into the submucosal layer (PubMed:26431948). Mutant mice show increased susceptibility to West Nile virus infection characterized by deficient virus clearance from brain and spleen (PubMed:27795421). Mutant mice are deficient in clearing influenza A virus (H1N1) pulmonary infection due to increased immune inflammation and lung damage (PubMed:26735852)
No visible phenotype under normal growth conditions, but plants with reduced levels of both PLP3A and PLP3B show defects in cytokinesis, cortical microtubule array formation, oriented cell growth, and maintenance of proper ploidy
Mutants can express and secrete the LtxA leukotoxin, but LtxA lacks both leukotoxic and erythrolytic activities, and is unable to cause a change in intracellular calcium levels in host cells
Mutant mice are born healthy at the expected Mendelian ratio, are fertile, and have no apparent phenotypic abnormalities (PubMed:19144317). They show increased susceptibility to S.aureus upper respiratory infection (PubMed:28813677). Mutant mice are protected from chemically induced colitis, a model of human inflammatory bowel disease (PubMed:29915298)
Embryonic lethality by embryonic day 11.5 dpc (PubMed:9771705). At 9.25 dpc, disorganization of the head mesenchyme in the midbrain region with separation of myotomal cells from the dermomyotome and widespread apoptotic cell death (PubMed:9771705). Forebrain malformation and widening of the mesencephalic flexure at 9.5 dpc and 10.5 dpc, and growth retardation by 10.5 dpc (PubMed:9771705). Conditional knockout in the nervous system results in a progressive age-related neurodegenerative phenotype (PubMed:24670762). At the age of 1 month, no change of neuronal numbers in the cortex and hippocampus, but at the age of 8 months, neuronal degeneration and apoptosis, accompanied by significant neuronal loss in the cerebral cortex and hippocampus, and pronounced gliosis (PubMed:24670762). In primary 16 dpc cortical neurons, increased degeneration and cell death upon oxidative stress or exposure to oligomeric amyloid-beta 42 (PubMed:24670762). Conditional knockout in QNP cells leads to a higher number of proliferating QNP cells, an increased transition to TAP cells and increased differentiation into mature neurons (PubMed:27819263). Conditional knockdout in proliferating cells leads to a decreased number of proliferating TAP cells and an increase in immature and mature neurons (PubMed:27819263)
Homozygous lethal. Male (pollen) and female gametophytic lethality. Reduces oil content and altered fatty acids (FA) composition
A double rhsC-rhsIC deletion is not outcompeted by wild-type cells
Cells lacking this gene do not show a discernible effect on alpha-glucan content and do not accumulate ADP-glucose. Combined inactivation of both glgM and glgB completely blocks alpha-glucan production. Combined inactivation of both glgM and ostA accumulates ADP-glucose. In the double mutant treS-glgE, inactivation of the glgM gene fully abolishes maltose 1-phosphate (M1P) production
No noticeable phenotype
Normal growth, coordination, egg-laying, mating, chemotaxis, pharyngeal pumping and VC neuron synapses as in wild-type animals (PubMed:9425137). Abnormal sleep behavior with mutant larvae displaying a reduced, if not absent, type of turning behavior called 'flipping' (PubMed:28244369). Irregular formation and extension of sublateral motor neuron processes (PubMed:28244369)
Decreased propionate kinase activity, cells grow to lower density on 1,2-PD and excrete more propionate into the medium (PubMed:12700259). A double acs-pta deletion excretes but no longer recpautres acetate (PubMed:16272400)
Abolishes the production of the insecticidal furocoumarin neurosporin A (PubMed:28485098). Does not affect the fruiting body development and leads to normal fertility (PubMed:19277664)
Delays the cell cycle during the G1-to-S transition (same phenotype as an ssrA deletion), a 10-fold decrease in levels of mature tmRNA (PubMed:12511504). tmRNA is incorrectly localized in cells missing this gene (PubMed:19805312)
Abnormal locomotion, abnormal morphology, slow growth, defects in distal tip cell migration, defects in developing gonads, and in extreme cases embryonic lethal
High embryonic and larval lethality with viable progeny displaying a high incidence of males phenotype (PubMed:18535664, PubMed:25768301). Defective chromosomal morphogenesis, segregation and alignment due to the failure of central region components of the synaptonemal complex to assemble onto chromosomes during meiosis (PubMed:18535664). Severe chromosomal and meiotic defects include a delay in chromosome dispersal upon entry into the pachytene stage; impaired stability of homologous pairing interactions resulting in a failure to form chiasmata for crossover recombination, and increased DNA double strand break repair upon entry into and throughout the pachytene stage of meiosis possibly resulting in impaired meiotic recombination (PubMed:18535664). Germ cell defects resulting in increased germ cell apoptosis (PubMed:18535664). Decreased histone acetylation in meiotic germ cell nuclei from the premeiotic tip to the late pachytene stage with the most prominent decrease upon meiotic entry and during the pachytene stages (PubMed:25768301). Decreased acetyl-CoA production (PubMed:25768301). RNAi-mediated knockdown results in reduced histone H2AK5 acetylation (PubMed:25768301)
No visible phenotypes when grown under normal conditions, but increased sensitivity to salinity and water deficiency (PubMed:18364466). Late flowering in slightly dry conditions (PubMed:18364466). Decreased sensitivity to glucose (PubMed:19704505)
Cells lacking this gene exhibit normal cell morphology and growth rate at 37 degrees Celsius, however cell diameter is slightly decreased
Exacerbates the cold sensitivity of a DRS2-knockout
Significant reduction of root and stem growth, xylan reduction in stem and increased susceptibility to the cellulose synthase inhibitor isoxaben
Increased heat stress tolerance associated with the accumulation of HSP14.7, HSP21, At2g03020 and WRKY28
Pale interveinal phenotype due to marked reduction in the density of mesophyll cells in interveinal regions of leaves
Long hypocotyl, incomplete chloroplast and leaf development, lack of photoreversible phytochromes and lack of phytochromobilin, the phytochrome chromophore. No cotyledon expansion in response to bright-red light. Increased levels of jasmonate (JA) and constitutive expression of JA-inducible defense genes. Increased sensitivity to salt stress and no acclimation response to salinity
Reduced levels of phagocytosis. Loss of both CaBP1 and Prtp does not cause a further decrease in the reduced level of phagocytosis seen in either CaBP1-lacking or Prtp-lacking embryos
Worms lacking sel-2 exhibit a multivulva phenotype when combined with loss of lin-12
RNAi-mediated knockdown specifically in pHCl-2 expressing enterocytes delays pupariation (PubMed:32269334). Knockdown in the intestinal copper cell region decreases intestinal acidity (PubMed:32269334)
Abolishes the production of heptelidic acid
Not essential. While depletion/deletion of RNase J1 or J2 has no large impact on global gene expression, a double mutant alters the expression of hundreds of genes (PubMed:18713320)
Impaired ability to repair double-strand breaks (DSBs)
Defects in hemopoietic stem cell activity. Progressive reduction in multipotent CFU-S(14) (colony-forming unit-spleen) progenitors and the earliest erythroid-restricted precursors (BFU-E)
Impairs the cytoplasm to vacuole transport (Cvt) pathway (PubMed:26442587). Mislocalizes ATG8 in the cytosol, when ATG17, ATG29 or ATG31 are also deleted (PubMed:26442587)
Strains lacking this gene show a reduction in growth stimulation by the iron-hydroxamate siderophores schizokinen and arthrobactin compared to wild-type
After L2 growth stage movement is subdued and development is stunted. Increased sensitivity to tunicamycin which induces an unfolded protein response symptomatic of endoplasmic reticulum stress
Cells lacking this gene do not show thioesterase activity and have a little protease activity against Cbz-Phe-ONap. No effect on the cell growth and fatty acid composition
Mice genetically knocked out for TAX1BP1 show no obvious abnormalities at birth, but develop age-dependent inflammatory cardiac valvulitis, die prematurely, and are hypersensitive to low doses of TNF-alpha and IL-1beta (PubMed:18239685). In addition, TAX1BP1 deletion impairs clearance of ubiquitinated protein aggregates (PubMed:33207181)
Increases cellular levels of glutamine and alanine during high hydrostatic pressure (mechanical stress) (PubMed:32801125). Sensitive to high hydrostatic pressure (mechanical stress) (PubMed:32801125)
Alters assembly of FloT membrane rafts; more diffuse rafts are seen. Double floA-nfeD2 deletion mutants are wild-type (PubMed:22753055). No visible effect on FloT membrane assemblies (PubMed:27362352)
Cells lacking this gene do not grow on arginine as a sole nitrogen source, but do grow on ornithine or ammonium chloride
Strong reduction in root hair number, density and length in seedlings
Mutant mice display increased exploratory behavior in open spaces and reduced anxiety-like behavior (PubMed:16873667). Mutant mice fail to show behavorial responses to psychoactive substances and hallucinogens, such as mescaline, psilocybin, 1-(2,5-dimethoxy-4-iodophenyl)-2-aminopropane (DOI), 1-(2,5-dimethoxy-4-bromophenyl)-2-aminopropane and lysergic acid diethylamide (LSD) (PubMed:17270739). Besides, the colon from mutant mice does not contract in response to 5-hydroxytryptamine (PubMed:11960784)
Death during early embryonic development. Heterozygous mice exhibit impaired spatial memory and decreased anxiety
Cells lacking this gene require nicotinic acid for growth
Leads to a minor reduction in agar invasion ability
The glcA-lldP double mutant is unable to grow on glycolate and displays undetectable glycolate uptake when grown in the presence of glycolate
RNAi-mediated knockdown results in increased dendritic branch formation in PVD sensory neurons (PubMed:21205795). RNAi-mediated knockdown in a bicd-1 (ok949) mutant background results in failed nuclei migrations in larval hypodermal P-cells (PubMed:27697906)
RNAi-mediated knockdown from hatching results in stunted growth, reduced fertility, progressive destruction of the intestine by adulthood characterized by the thinning of the intestinal wall and loss of intracellular lipid droplets, which eventually culminates in lethality (PubMed:18227072). RNAi-mediated knockdown results in activation of cellular stress pathways, and thus the intestinal damage is most likely due to activation of oxidative stress responses and ER stress responses in the intestine (PubMed:18227072). The reduced fertility phenotype is enhanced in response to exogenous tyrosine or homogentisic acid (PubMed:18227072). RNAi-mediated knockdown together with tatn-1 RNAi, hpd-1 RNAi or hgo-1 RNAi rescues the impaired growth and fertility defects in the single fah-1 RNAi mutant (PubMed:18227072)
Impairs the production of bikaverin (PubMed:19400779). Leads to the accumulation of the intermediate oxo-pre-bikaverin (PubMed:26382642)
Completely abrogates the biosynthesis of aspirochlorine, but also of the intermediate dechloroaspirochlorine (PubMed:25302411)
Decreased degradation of DNA with free ends that is unable to undergo homologous recombination, which can fortuitously lead to more efficient viral infection (PubMed:4562392, PubMed:123277). Cells are deficient in DNA recombination repair and have increased sensitivity to UV light. The cultures have many inviable cells (PubMed:6389498). Cells cannot be transformed with retron Ec48-containing plasmids (PubMed:33157039)
Total acylglycerol levels are unaltered whereas diacylglycerol concentrations are drastically increased in white adipose tissue of knockout mice when compared to wild-type littermates
RNAi-mediated knockdown causes larval lethality at the L2 stage (PubMed:11441002, PubMed:16785323). RNAi-mediated knockdown causes defects in alae formation in L1 larvae and in the few surviving adults (PubMed:16785323). Shorter body length (PubMed:16785323)
RNAi-mediated knockdown in adults reduces lifespan on eat-2, daf-2 and rsks-1 mutant backgrounds (PubMed:23925298). RNAi-mediated knockdown during the fourth larval stage reduces lifespan on a clk-1 mutant background (PubMed:23925298). RNAi-mediated knockdown reduces the expression of mml-1 on a glp-1 mutant background (PubMed:27001890). RNAi-mediated knockdown increases expression of lmp-1 and sqst-1 (PubMed:23925298)
Animals are alive, but suffer from muscle weakness (PubMed:36173861). Absence of cytoplasmic actin processing in intestine and kidney (PubMed:36173861). Accumulation of immature alpha-skeletal muscle (Acta1), alpha-cardiac muscle (Actc1), and alpha-smooth muscle (Actc2) actin with N-terminal acetylated cysteine (PubMed:36173861). Undetectable actin maturation and accumulation of immature actin in acetylated and methionated state in intestine and kidney, however no effect on the total levels of actin (PubMed:36173861). Shorter sarcomeric thin filaments in skeletal muscle, decrease in muscle function and progressive accumulation of centralized nuclei, a common hallmark of myopathies (PubMed:36173861)
No visible phenotype (PubMed:11067863, PubMed:11865066). During myocarditis, mice show an increased tendency to cardiac tissue injury (PubMed:11067863). Homozygous CLU aging mice exhibit a striking glomerulopathy characterized by progressive mesangial expansion and collapse of capillary lumens (PubMed:11865066)
Mutant can form only nonprenylated phenazine 1-carboxylic acid
Lethal from late larval stages (PubMed:29940804, PubMed:30115618). In garland cells, results in defective late endosome-lysosome fusion and inability to form a rapidly exchanging terminal lysosomal network (PubMed:29940804). In motor neurons, results in defective anterograde axonal long-range transport of lysosome-related vesicles which leads to defective protein localization to presynaptic active zone and synaptic vesicles (PubMed:30174114, PubMed:30115618). This results into a reduction of number of boutons per synapses which limits neurotrasmitter release and leads to posterior paralysis (PubMed:30174114, PubMed:30115618). RNAi-mediated knockdown in larval presynaptic motoneurons results in defective presynaptic biogenesis (PubMed:30174114)
Situs inversus in approximately one third of the homozygous mutant mice. No other notable phenotype (such as espiratory tract lesions, hydrocephalus, and male infertility) is observed
No obvious phenotype, but mice present subtle behavorial changes. Signaling from inhibitory synapses is impaired. In addition, mice have reduced brain volume. Mice lacking both NLGN1 and NLGN2, or NLGN2 and NLGN3, are viable, but have impaired breathing, drastically reduced reproduction rates and striking deficits in raising their offspring. Mice lacking NLGN1, NLGN2 and NLGN3 are born at the expected Mendelian rate, but die shortly after birth due to respiratory failure. They do not show a significant change in the number of synapses, but synapse function is strongly impaired
Defective QL neuroblast daughter cell migration (PubMed:8898225). Lin-39 and mab-5 double mutants have reduced sex myoblast specific expression of sem-2 in the developing mesoderm (PubMed:21307099)
Mice begin to die 3 weeks after birth. They exhibit a progressive neurological phenotype including blindness, loss of coordination and enhanced startle response. Glutamatergic neurotransmission is drastically reduced due to a decrease in the reserve pool of synaptic vesicles and reduced quantal size. Visual signaling from photoreceptors to retinal output neurons is impaired while photoentrainment and pupillary light responses remain intact
Increased biofilm formation but a decreased tendency to sediment and aggregate. Cells are more sensitive to peroxide
Worms are unable to crawl backwards because VA motor neurons are miswired with synaptic connections normally reserved for their sister cells, the VB motor neurons
Impairs growth on L-tyrosine as the sole carbon source and affects homogentisic acid and pyomelanin formation
Embryos exhibit perturb cardiac looping as the result of a defect in left/right patterning
Mice have no detectable defect in constitutive peroxisome division and display a normal peroxisome proliferation response when exposed to PPARalpha-activating drugs. However, they are defective in peroxisome proliferation induced by 4-phenylbutyrate (4-PBA)
Male sterility and production of parthenocarpic seeds. Increased levels of free IAA in anthers and ovaries
Embryo sac development arrest. Unfused polar nuclei
Leads to a decrease in the length of G1 with respect to the wild-type strain along with a smaller difference in the cell cycle length of parent and daughter cells
Cells lacking this gene show sensitivity to lysosyme, in contrast to wild-type
Worms show reduced degradation of p-nitrophenyl-beta-N-acetylglucosaminide and no chitotriosidase activity
Double knockout with TREX1 does not show a visible phenotype
RNAi-mediated knockdown causes an increase in peptidolytic activity
Deletion of the gene does not affect the synthesis of the major virulence factor ESAT-6, but greatly reduces its secretion. In infected macrophages, Rv1057 deletion significantly reduces the secretion levels of cytokines IL-1 beta, IL-10, TNF-alpha, and INF-gamma, but does not affect IL-4 and IL-8 levels. Deletion of Rv1057 greatly impairs the ability of M.tuberculosis to replicate in macrophages
Triple knockout mice KREM1/KREM2/DKK1 exhibit enhanced growth of ectopic digits
Variegated cotyledons and leaves. The amount of white tissue increases with light intensity
Mutant is unable to use tyrosine as carbon source, lacks homogentisate dioxygenase activity, produces a melanin-like pigment and is affected in stationary-phase survival
Inhibits GCN4 derepression in glucose, amino acid, or purine-starved cells
Pronounced hepatomegaly accompanied by lipid accumulation in the liver
Reduced mitochondrial replication, transcriptional hypoxia response, sterility, arrest of germline cell proliferation, reduced frequency of apoptosis in the germline. Severe mitochondrial DNA depletion in somatic cells but does not result in major anomalies in worms development. Hypersensitive to ethidium bromide
Mice are blind, show juvenile ataxia, duck gait, hind paw clasping reflex as well as delayed onset of male fertility. They suffer a degeneration of the retina during postnatal development with severe defects in photoreceptor cell morphology. Mice display reduced anxiety and learned helplessness-related behaviors. They also show a significant increase of the circadian period. Knockouts for isoform 1 display duck gait and lack amacrine and horizontal cells with an excess of ganglion cells in the retina (PubMed:23652001)
Drastically reduces the transcription of chaetoglobosin A biosynthetic genes and completely abolishes chaetoglobosin A production (PubMed:33622536). Abolishes sporuration (PubMed:33622536)
Impaired degradation of proteins with misfolded lumenal domains such as CPY*, a mutant, misfolded form of carboxypeptidase Y which is a known ERAD-L substrate. Degradation of proteins with misfolded intramembrane domains is not affected
Deletion mutants show a recessive embryonic lethality. At 7.0 dpc, mutant embryos did not show any special abnormalities except a smaller size. However, at 8.0 dpc, mesoderm formation is initiated but its development is arrested around the mid/late streak stage (PubMed:10479450). In an osteoblast-specific manner loss of BMP signaling via ACVR1 directs osteoblasts to increase endogenous bone mass (PubMed:21945937). Additionally, mice lacking ACVR1 in cartilage show reduced SMAD responses, but also decreased p38 MAPK activation (PubMed:25413979)
RNAi-mediated knockdown causes defects in spindle assembly characterized by kinetochore microtubule instability, a reduction in centrosomal microtubules and a decrease in outgrowth of microtubule plus ends from centrosomes (PubMed:17218259). Also causes a reduction of sys-1/beta-catenin enrichment at centrosomes throughout early embryonic cleavages (PubMed:25819561). Increases sys-1 nuclear accumulation without affecting sys-1 asymmetric distribution in E and MS blastomers (PubMed:25819561)
Mice show increased susceptibility to thoracic transverse aortic constriction (TAC)-induced cardiac hypertrophy. TAC-induced CAMKII phosphorylation in the heart is also significantly increased
Deletion of the yobL-yobK operon has no visible growth phenotype, however it is out-competed by wild-type cells
No obvious phenotype, but mice present subtle behavorial changes with reduced ultrasound vocalization and impaired response to olfactory cues. In addition, mice have reduced brain volume. Mice lacking both NLGN1 and NLGN3, or NLGN2 and NLGN3, are viable, but have impaired breathing, drastically reduced reproduction rates and striking deficits in raising their offspring. Mice lacking NLGN1, NLGN2 and NLGN3 are born at the expected Mendelian rate, but die shortly after birth due to respiratory failure. They do not show a significant change in the number of synapses, but synapse function is strongly impaired
Disruption of the gene in the clinical strain Mt103 leads to a reduction of the phospholipase C activity of the mutant. The plcABCD mutant exhibits a dramatic decrease in phospholipase C activity. The quadruple mutant is attenuated in the mouse model of infection, but not in infected THP-1 cells
Leads to a reduction of meleagrin synthesis (PubMed:22118684). Accumulates roquefortine D and roquefortine C (PubMed:23776469, PubMed:24225953)
Non-essential under typical in vitro growth conditions. Loss of lptD causes impaired in vitro growth. Decreases LPS levels and susceptibility to polymyxin B, increases outer membrane permeability and hypersensitivity to hydrophobic antibiotics. Causes an accumulation of lipid IV(A). Deletion impairs cell envelope integrity more than the loss of LPS biosynthesis, presumably due to the accumulation of toxic intermediates
RNAi-mediated knockdown causes 20-30% increase in lifespan (PubMed:18828672). Causes smaller brood size (50% of wild type) and lower hatching rate (21% vs. 99%) at 12 degrees Celsius (PubMed:18043729). Increases intestinal expression of skn-1 target genes, including gcs-1, gst-4 and gst-7; increase abolished in an skn-1 mutant background (PubMed:22568582). Substantially reduces enrichment of hcf-1 on the efl-1 promoter and enhances enrichment of daf-16 at sod-3 and mtl-1 promoters (PubMed:18828672). Two-fold reduction in the level of embryonic expression of sup-35 in a lin-35 mutant background (PubMed:19521497). Partial suppression of larval lethality in both lin-35;ubc-18 and lin-35;pha-1 mutant backgrounds and suppression of pharynx-unattached phenotypes in a pha-1 mutant background (PubMed:19521497)
Leads to sensitivity to thiabendazole and microtubule-depolymerizing drugs
Abolishes the production of most pyranterreones, but accumulates pyranterreones 9 and 10
Mice display an accelerated B-cell egress from the bone marrow, resulting in the accumulation of peripheral follicular B-cells
Death at an early embryonic stage. Embryos die after 3 to 5 days of development
Albino phenotype and seedling growth arrest at 2 to 4 leaves
The double mutant scyl2a scyl2b has short root hairs and small shoots
Decreases long-term survival (1000-fold decrease after 20 days in liquid culture), derepresses curli production under non-curli-inducing growth conditions
No visible phenotype under normal growth conditions, but homozygous double mutants hal3a-1 and hal3b are embryonic lethal
Morpholino knockdown results in embryos with small eyes, head and brain structures
No visible phenotype under normal growth conditions, but the double mutant plants sty8 and sty46 show retarded growth
Mice have no demonstrable Pcsk2/Pc2 activity, are deficient in processing islet hormones, and display hypoglycemia, hyperproinsulinemia and hypoglucagonemia, similar to Pcsk2 null mice. In contrast to Pcsk2 null mice, they develop Cushing's disease due to excessive secretion of corticotropin from the pituitary and die before 9 weeks, indicating a role for Sgne1 in control of peptide secretion from the pituitary
Mice show rapid postnatal deterioration in cochlear hair-bundle structure, associated with smaller than normal transducer currents with otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness
Chemotaxis of macrophages, T and B lymphocytes and bone marrow-derived mature dendritic cells from mutant mice is not affected but chemotaxis of immature dendritic cells is abolished
Knockout mice generated by CRISPR-Cas9-mediated gene editing are associated with minor morphologic and ultrastructural defects of sperm flagella, which results in profound alterations in sperm flagellar velocity and beating frequency that strongly impair fertilization
Homozygous null mice die before embryonic day 8.5
Leads to increased susceptibility to cell wall-perturbing agents
Mutant accumulates cyclohexanol
Leads to strict auxotrophy for methionine
Morphants have defects in neural crest formation. At the tadpole stage, animals are often less pigmented with ventrally bent tails. Embryos develop smaller eyes and forebrain structures
Dwarf phenotype and altered flavonol glycoside pattern (PubMed:24251900). The accumulation of kaempferol 3-O-rhamnoside-7-O-rhamnoside in the mutant inhibits basipetal auxin transport in the shoot, which correlates with the dwarf phenotype (PubMed:24251900)
Defects in DRC5 give the sup-pf4 phenotype characterized by disruption of the assembly of several other N-DRC subunits
Severe dwarf phenotype with wide and dark-green leaf blades. Plants insensitive to gibberellic acid (GA)
Deficient mice die within the first 3 days of life, showing little or no milk in the stomachs, hypopnea, cyanosis, olfactory bulb hypoplasia, axon outgrowth defects in the olfactory and optic nerves, defects of axon growth in the brain and reduced dendritic branching in the hippocampus
Leads to enhanced susceptibility against fluconazole, methotrexate, 4-nitroquinoline-N-oxide, and cycloheximide
Deletion mutant exhibits a variety of aberrant cell shapes and sizes, is more sensitive to heat stress and shows lower survival after exposure to oxidative stress (PubMed:25470041, PubMed:25550321). Mutants show severe cell division defects, with cells dividing asymmetrically, generating daughter cells of unequal size (PubMed:25550321). Cells have mispositioned division septa and form grape-like clusters (PubMed:25470041). They exhibit severe alterations of FtsZ ring morphology and localization (PubMed:25470041, PubMed:25550321). FtsA and other cell division proteins are also mislocalized (PubMed:25550321)
Fishes show reduced dense iridophores in the light stripes of the trunk, particularly in the anterior region, resulting in irregular interruptions of melanophore stripes (PubMed:29078341, PubMed:29317532). Fishes lacking alkal1, alkal2a and alkal2b are embryonic lethal and display total loss of iridophores (PubMed:29317532)
Single deletion is viable. A triple mspA-mspC-mspD deletion grows slower than the single mspA or double mspA-mspC deletions and has reduced Fe(3+) transport compared to wild-type
No visible phenotype in rich, rich without NaCl or minimal medium. Double dedD-drpB deletion mutants grow 1000-fold less well at 42 degrees Celsius and are filamentous when grown on LB, no effect is seen in low ionic strength medium; few septa are observed
In the spermatocytes the number of Golgi structures are reduced and they appear smaller or have collapsed Golgi stacks. In third instar larvae spermatocytes, cytokinesis is abnormal producing multinucleated spermatids with a single large Nebenkern. Acroblasts do not form and instead appear as an aggregate of multiple unfused vesicles. During anaphase and early-telophase the central spindle appears regular and acto-myosin contractile rings form normally but during mid-telophase the rings fail to constrict. By late-telophase the rings become fragmented, and the central spindle appears less dense, is irregularly shaped and eventually disassembles. Spermatocytes are unable to complete furrow ingression due to reduced plasma membrane formation during cytokinesis
Blocks autophagy and displays increased sensitivity to nutrient limitation, with decreased conidial germination, growth and sporulation (PubMed:23197175). Leads only to a modest decrease in virulence (PubMed:23197175)
Impairs the productin of oxaleimides and leads to the accumulation of a trans-decalin containing alcohol intermediate
Mice are viable and fertile and do not show any notable developmental defect or spontaneous tumor development within 2 years. SUSD6 and TP53 double knockout mice show an increase in tumor development and a decrease in lifespan compared to TP53 knockout mice carrying wild-type SUSD6 (PubMed:24652652)
Reduced amount of collagen cross-linking in femur and periosteum (PubMed:20181949)
Mice lacking Kcnq1 show an intestinal absorption impairment which is associated with reduced serum vitamin B12 concentrations, mild macrocytic anemia, and fecal loss of sodium and potassium ions (PubMed:16314573). Mice lacking Kcnq1 show microvillar secretory membranes intact, but basal acid secretion is absent and forskolin-stimulated acid output is reduced by approximately 90% in gastric mucosa (PubMed:19491250). Homozygous Kcnq1 mice develop normally and are viable, demonstrate hyperactivity, circling, and nodding behaviors; exhibit no electrocardiographic abnormalities but present a complete deafness, as well as circular movement and repetitive falling; show severe anatomic disruption of the cochlear and vestibular end organs; also display threefold enlargement by weight of the stomach resulting from mucous neck cell hyperplasia (PubMed:11120752). Mice neonates lacking Kcnq1 display significantly prolonged QT intervals during baseline ECG assessments which significantly increased following isoproterenol challenge; furthermore, the slow delayed rectifier potassium current (IKs) is absent (PubMed:15004216)
Reduced cuticular wax load on the stem surface and in silique walls, with altered cuticular lipid composition (especially C29 alkane) associated with diffuse cuticular layer structure. Increased number of plastoglobules in the stem cortex and leaf mesophyll cells, protrusions of the cytoplasm into the vacuole in the epidermis, and enhanced susceptibility to infection by the necrotrophic fungal pathogen Alternaria brassicicola. Increased susceptibility to penetration of the epidermal cell wall by the non-host mildew fungal agent Blumeria graminis f. sp. hordei (Bgh) (PubMed:30102837)
Impairs appressorium formation and growth in plant hosts
Greatly retards the growth of cells using GlcNAc as the sole carbon source, increases resistance against farnesol, and attenuates the virulence in a mouse systemic infection model. Leads to derepression of opaque specific gene expression, as well as to constitutive filamentous growth and hyperfilamentation in filamentation-inducing conditions
Mutants show abnormal nucleoid morphology and DNA segregation defects. Mutation also causes a cell cycle arrest at the predivisional cell stage
Larval lethality (PubMed:31417366). Mechanosensory neurons are born and develop normally (PubMed:31417366). However, cre-mediated knockdown targeted to mechanosensory neurons severely impairs axon regrowth of mechanosensory PLM neurons after injury (PubMed:31417366)
Mice show partial hormone resistance: target organs such as uterus, prostate, testis and mammary gland exhibiting decreased growth and development in response to steroid hormones. Moreover, such mice are prone to obesity due to reduced energy expenditure
Mutation abolishes AMB production (PubMed:20543073). Deletion of the gene causes a substantial reduction in the production of the quorum sensing signal 2-heptyl-3-hydroxy-4(1H)-quinolone (PQS) (PubMed:23542643)
Vegetative phenotype does not differ visually from wild-type. No obvious defects in root development. Polyglutamylated folates still detectable. Has significantly reduced methionine levels compared to wild-type. Combined loss of FPGS3 and FPGS2 results in seedling lethality. Seedlings fail to proceed beyond the expanded cotyledon stage, exhibit an albino phenotype and are unable to thrive beyond germination. Fpgs3 and fpgs1 double mutant exhibits dwarfed leaves, late flowering (approximately 13 days after wild-type), reduced fecundity and delayed senescence. Pollination with fpgs3 and fpgs1 double mutant pollen yields at most one or two seeds per silique compared to the yield of full siliques when wild-type stigmas are pollinated with wild-type pollen. There is a 40% reduction in the total of 5-CH(3)-THF pool in fpgs3 and fpgs1 double mutant leaf tissue. Fpgs3 and fpgs1 double mutants have 70% lower methionine content than wild-type
Mutant shows a large decrease in the extracellular pseudopaline level, with a concomitant increase in the intracellular space. Mutant is unable to grow in airway mucus secretions (AMS) and is impaired in iron accumulation in this media supplemented with iron
Enhanced susceptibility to virulent and avirulent pathogens
RNAi-mediated knockdown results in reduced enzymatic activity in midgut and salivary gland tissue extracts. Weight gain after feeding is reduced. Females lay very small eggs which fail to hatch into larvae
RNAi-mediated knockdown causes a loss in phenoloxidase (PO) activity and a reduction in microbe melanization in response to E.coli infection (PubMed:33045027). RNAi-mediated knockdown in the susceptible strain G3 infected with P.berghei, does not affect the number of oocysts and ookinete melanization; however, severely reduces ookinete melanization caused by CTL4 RNAi-mediated knockdown (PubMed:33045027)
Mutant lacks chlorobactene and all its derivatives, and accumulates only gamma-carotene and its derivatives. The growth rate of the mutant shows no significant deviation from the wild-type growth rate at any light intensity
Deletion of the gene confers cysteine and methionine auxotrophy
Half of the males without the gene, but not females, display abnormal claw morphology or absent claws compared to wild-type; at the age of 2 to 3 months, the claws disappear or become rudimentary on the hind limbs (PubMed:21665003). FZD3 and FZD6 double knockout embryos have a curled tail, exhibit defects in neural tube and eyelids closure, in the orientation of hair bundles on inner-ear sensory cells and die at birth (PubMed:16495441)
Death at a late embryonic stage due defective erythropoiesis, defects in the maturation of other types of myeloid lineage cells and anemia
RNAi-mediated knockdown results in severe lethal arrest at an early larval stage (PubMed:16154558). The pharyngeal structure is disorganized and the anterior tip is thinner (PubMed:16154558). The phenotype is more severe in a pax-6 (ju468) mutant background (PubMed:16154558). RNAi-mediated knockdown in L1 larvae causes a decrease in resistance to heat or oxidative stresses characterized by a reduced lifespan, reduced heat shock protein hsp-16.2 expression and increased reactive oxygen species (ROS) production (PubMed:25108328)
Cells lacking both glpX and gpm2 grow as well as wild-type on glucose, but are unable to grow on any of the gluconeogenic carbon sources tested (glycerol, acetate and butyrate); the growth defect on gluconeogenic carbon sources is fully complemented by restoring expression of either GlpX or Gpm2. This double mutant lacks detectable FBPase activity and accumulates FBP. It is also severely attenuated in a mouse model of infection, as it fails to replicate in mouse lungs during the first 10 days of infection and begins to die thereafter
Mutant cannot secrete the low-molecular-weight alkaline phosphatase LapA (PubMed:11985723). Deletion mutant shows decreased ability to express outer surface PstS, but not intracellular PstS (PubMed:18282104)
Reduced synaptic transmission in area CA1 of the hippocampus caused by increased levels of RHOA. Brain size or neural progenitor cell proliferation are not affected
Cells lacking this gene show a dramatically altered ribosome profile, a severe growth disadvantage, and a temperature-sensitive phenotype. These effects are overcome by overexpressing either of 2 small GTPases, ObgE/CgtA or EngA
Lack definitive erythropoiesis, have craniofacial and limb deformities, and die in midgestation. Mice with FLVCR1 that is deleted neonatally develop a severe macrocytic anemia with proerythroblast maturation arrest. Mice lacking the plasma membrane isoform (Flvcr1a) but expressing Flvcr1b had normal erythropoiesis, but exhibited hemorrhages, edema, and skeletal abnormalities
According to PubMed:10747865, mice lacking Theg (mutant kisimo) have virtually no spermatozoa in the lumina of seminiferous and epididymal tubules. Spermatids in the vicinity of the lumina of seminiferous tubules showed vacuolation and were occasionally phagocytosed by Sertoli cells. Elongated spermatids have abnormal or completely nonexistent flagella. No difference is seen between wild type and null mutants in the number of spermatogonia or spermatocytes. According to PubMed:12748127 null mutants appear phenotypically normal and were fertile. However, a minor but significant reduction in testes weight was observed. Morphological appearance of sperm was normal
Abnormal accumulation of D-ribose. D-ribose hypersensitivity; normal growth except in the presence of D-ribose, which leads to chlorosis and growth inhibition
Mice die by the end of preimplantation development and exhibit a dramatic reduction in the total cell number, a high mitotic index, and the presence of abnormal mitotic figures. Mice appear unwell with significant loss of body weight and rapidly decline afterwards and die. Mice reveal major alterations of their digestive tract including a distended and filled stomach and an intestine lacking spontaneous peristaltism. The small intestine exhibits a thinner wall, less abundant and stunted villi and highly disorganized crypts. Large portion of the gut are almost devoid of normal epithelial structure (PubMed:23213458). Conditional inactivation of Omcg1 in oocytes leads to sterility and early folliculogenesis arrest (PubMed:25168238)
Reduced roots and rosettes development
Mice die in the neonatal period, exhibiting bilateral renal agenesis and defects of the eye and the skeleton. Uronate 2-O-sulfates are not detected in such mice, however, the domain structure of the HS is conserved, due to a compensatory increase in N- and 6-O-sulfation maintain the overall charge density
No visible phenotype under normal growth conditions, but mutant seedlings show increased sensitivity to abscisic acid (ABA) and salt stress during post-germinative growth (PubMed:22225700). Increased susceptibility to P.syringae infection. Weak expression of pathogenesis-related (PR) genes after infection with P.syringae or salicylic acid (SA) treatment (PubMed:24215930)
Deficient mice display embryonic lethality during organogenesis with hemorrhages, impaired vascular smooth muscle cell development, impaired vascular integrity and growth retardation
Displays partial loss of silencing in otr region as well as significant loss of silencing in mating-type and telomere (PubMed:29109278). Decreases H3K9 methylation more than 50%, whereas histone acetylation at the pericentromeric region is significantly increased (PubMed:29109278). Results in partial dissociation of swi6 from heterochromatin (PubMed:29109278)
Plants exhibit an improved tolerance to Pb(2+)
Mutants form chains of short, fat cells when grown in low osmotic strength media
No visible phenotype under normal growth conditions, but mutant plants have strongly reduced levels of unsaturated LCB sphingolipids in all organs and show enhanced sensitivity to prolonged low-temperature exposure
Dwarf plants with yellowish leaves that accumulate large amounts of maltose. Increased tolerance to cold
RNAi-mediated knockdown causes arrested development at 90-100 cells and inhibits differentiation (PubMed:11566890). The two E cell daughters (E2 cells), which form the endoderm, divide abnormally early, immediately after the MS2 cells (PubMed:11566890). Phosphorylation of the RNA Pol II large subunit C-terminal domain (CTD) is reduced slightly in embryos (PubMed:11566890). Abolishes expression of taf-9, perhaps as a result of altered protein stability (PubMed:11566890). Reduces expression of a range of genes, including let-858, rps-5, hsp16.2, and pes-10, but has little or no effect on expression of cki-2 and sur-5 (PubMed:11566890)
Strongly inhibits growth in fellutamide B-producing conditions (PubMed:27294372)
Failure of fusion of the polar nuclei during megagametogenesis and abnormal double fertilization; fails to undergo fusion of the outer nuclear membranes
Knockout mice exhibit reduced scotopic vision acuity, however do not show rod photoreceptor degeneration (PubMed:15882641). Rod photoreceptors have a higher visual response threshold resulting in a 4-fold enhancement in sensitivity to low light intensity, with no change in pupil size (PubMed:15882641). Dark adapted rod photoreceptors have a reduced recovery time following stimulus, a reduced adaption time to background light and sustained photoreceptor signaling response following stimulus (PubMed:29435986). Rod photoreceptors have an increased sensitivity to stimulus in saturating background conditions (PubMed:29435986). Mice show a decrease in response, sensitivity and photoreceptor recovery to light stimulus in dark-adapted cone photoreceptors (PubMed:25673692). Rcvrn, Guca1a, and Guca1b triple knockout mice have a sustained photoreceptor signaling response following stimulus during light response in rod photoreceptors (PubMed:29435986)
Deletion of the gene cluster mmaABCDE causes a significant decrease in the intracellular accumulation of zinc in Sauton's medium where metal concentrations are relatively low
Plants have an increased salt-sensitivity resulting in growth inhibition, aberrant root-tip morphology and callose accumulation
Low plasma levels of triglyceride, HDL cholesterol and HDL phospholipids, and non-esterified fatty acids (NEFA). Animals fed on high-fat, high-calorie (HFC) diet show reduced epididymal adipose tissue weight with no difference in adipocyte size. Hypotriglyceridemia with elevated postheparin plasma LPL activity is specifically observed in the fed state. Mice deficient in both Angptl3 and Angptl4 show an additive effect on plasma triglycerides and did not survive past 2 months of age
Flies lacking Sply display decreased viability associated with altered nephrocytes morphology. Altered lipid metabolism with accumulation of sphingosine-1-phosphate upstream intermediates is observed
Viable and fertile. Males have reduced reproductive success, due to a range of aberrant mating behaviors. Double knockouts with ntr-1 partially rescue the reproductive phenotypes
RNAi-mediated knockdown at the procyclic stage causes a loss of RNA unwinding activity (PubMed:26769962). Reduces association of H2F1 and abolishes H2F2 association with components of various editing complexes (PubMed:26769962). RNAi-mediated knockdown at the procyclic stage inhibits editing at early 3' sites on pre-mRNA substrates without affecting the interactions between MRB3010/GRBC6, GAP1/GRBC2, RGG2, REL1 and gRNA (PubMed:25928631). Decreases the ratio of unedited mRNA substrates in the MRB3010/GRBC6-MRB complex and the association of never-edited mRNA and 9SrRNA with the MRB3010-MRB complex (PubMed:25928631). Also, causes a decrease in the steady-state levels of guide RNA (gRNA) (PubMed:19850921)
No visible phenotype under normal growth conditions, but mutant plants have reduced inhibition of primary root growth in low inorganic phosphate conditions
At 26 degrees Celsius 80% of progeny arrest at the L1 stage of larval development (PubMed:24462208). Reduced xrn-2 levels (PubMed:24462208, PubMed:26779609)
Subtle morphological alterations in pep-2 and pep-4 such as leaf alterations, phyllotactic errors and sporadic presence of small fruits with multiple valves. Occasional asymmetry in valve growth and unfused carpels (PubMed:16356489). Rescues the flk mutant late-flowering phenotype with a concomitant decrease in FLC RNA levels (PubMed:19576878)
Forms reddish-brown colonies and accumulated reddish pigments in the culture medium (PubMed:8953707)
Embryo lethal when homozygous, and defective for seed maturation when heterozygous
Leads to immature conidiophores without phialides
RNAi-mediated knockdown results in an altered hydrocarbon profile in females, with significantly increased levels of C25 7,11-dienes and reduced levels of C27 7,11-dienes. Monounsaturated and saturated hydrocarbon levels are also affected with increased levels of C23 fatty acids and reduced levels of C27 fatty acids. Males have a normal hydrocarbon profile. RNAi-mediated knockdown in females (mated to wild-type males) results in impaired courtship behavior with reduced numbers of copulation attempts and increased copulation latency
Mice have various neural defects, including defective long term potentiation, impaired spatial memory, hypomyelination, abnormal dendrite orientation and uncoordinated hippocampal structure
High degree of embryonic and postnatal lethality. Decreased levels of histone H3 containing a trimethyl group at its lysine 9 position (H3K9me3) in regions of heterochromatin. Attenuates spermatogenesis but not oogenesis with reduced numbers of mature sperm and spermatogenic precursors. Mice develop an autoimmune-like condition with late onset diabetes insipidus. Prostatic intraepithelial neoplasia associated with reduced autophagy. Conditional knockout in POMC neurons leads to an increase of body weight compare to controls when animals are challenged with high-fat diet (PubMed:20620997)
Irregularly expanded oil-containing structures, 40% reduction of triacylglycerols (TAG) content in seeds and 98% decreased seed germination rate
Heterozygous intercrosses reveal deviation from the Mendelian distribution, with only 6 homozygous out of 53 born mice, suggesting increased death in utero. Most surviving homozygous mice present with small body size, some with hydrocephalus at the age of 2 weeks. They display a variety of left-right body asymmetry defects, including reversal of lung lobation or dextrocardia. At the cell level, the trachea and fallopian tubes of mutant animals show absence of outer dynein arms from the ciliary axonemes, and consequently severe reduction of cilia beating. There is no evidence of short cilia or a reduction in cilia number
Female gametophyte disrupted development arrested at the four-nuclear stage
Mutants cannot transport ferric-anguibactin and are unable to grow under iron-limiting conditions
Mice are viable and fertile but have low and uninducible phase 2 detoxifying enzymes, are much more susceptible to carcinogens and the toxicity of oxygen and electrophiles and cannot be protected by inducers (PubMed:9240432, PubMed:11248092, PubMed:12032331). Mutant mice show an increased mortality during LPS and cecal ligation and puncture-induced septic shock compared to wild-types. They show greater pulmonary inflammation and greater TNF secretion upon LPS administration (PubMed:16585964). Mice lacking both Nfe2l2/Nrf2 and Keap1 reverse the hyperkeratosis phenotype observed in Keap1 knockout: mice and are healthy and viable in normal conditions (PubMed:14517554). Mice lacking both Nfe2l1 and Nfe2l2 die early between embryonic days 9 and 10 and exhibit extensive apoptosis due to marked oxidative stress in cells that is indicated by elevated intracellular reactive oxygen species levels and cell death (PubMed:12968018)
Accumulates approximately 19 times higher amounts of isoamyl acetate compared to wild-type in laboratory scale sake brewing
Embryogenesis mostly arrested at globular stage and cotyledon stage. Altered size exclusion limit of PD; abnormally maintained dilated PD at the torpedo stage and increased formation of secondary branched PD. Chlorosis (PubMed:11779812, PubMed:11874921, PubMed:19805190, PubMed:20434343). Altered plastid development (PubMed:22106293)
Reduced apical hook maintenance in etiolated seedlings (PubMed:24858935). The pp2c-d1 pp2c-d2 double mutant displays a long hypocotyl phenotype and strongly reduced apical hook maintenance in etiolated seedlings (PubMed:24858935)
Completely abolishes the production of patulin and shows significant slower colony expansion
The double mutant myb3r1 myb3r4 often fails to complete cytokinesis, resulting in multinucleate cells with gapped walls and cell wall stubs in diverse tissues (e.g. in embryo during the first or second division after fertilization, in stomata guard mother cell) and several pleiotropic developmental defects, and associated with the selective reduction of several G2/M phase-specific genes transcript levels (e.g. CYCB2, CDC20.1 and KNOLLE). Hypersensitivity to caffeine, an inhibitor of cytokinesis (PubMed:17287251, PubMed:21862669). In triple mutant myb3r1 myb3r3 myb3r5, up-regulation of many G2/M-specific genes leading to larger seeds, organs and embryos due to overproliferation and ectopic cell divisions (PubMed:26069325)
Causes ectopic vulval induction
Cells lacking this gene are unable to use L-ascorbate
Impairs the synthesis of anditomin but accumulates andilesin A (PubMed:25216349)
Mice display increased startle response but normal prepulse inhibition of the startle response. No effect on survival to weaning, fertility and mortality
POC1-deficient mutant cells display a temperature-sensitive lethal phenotype. Mutant cells also exhibit reduced basal body frequency, basal body organization defects, and loss of oral apparatuses
Embryonic lethality (PubMed:29799838). Conditional deletion in germ cells leads to infertility in both males and females: mice are viable and grossly normal but male mice lack any germ cells including mitotic spermatogonia, while female oocyte maturation is arrested at the primary follicle stage (PubMed:29799838). Ythdc1-deficient oocytes contain large cytoplasmic RNA granules, show extensive alternative polyadenylation, thereby altering 3'-UTR length, and massive alternative splicing defects (PubMed:29799838)
Mice are viable but fail to produce mature B or T-lymphocytes. Very immature lymphoid cells are present in primary lymphoid organs. These cells do not rearrange their immunoglobulin or T-cell receptor loci. Double knockout with TREX1 does not show a visible phenotype
VGF-deficiency produces a lean, hypermetabolic mouse that is resistant to diet and genetically-induced obesity
Almost half of homozygous embryos mice for IHH died between 10.5 and 12.5 dpc. Also some lethality occurred in late gestation, most of the remaining embryos developed to term but died at birth, due to respiratory failure. Mutants display markedly reduced chondrocyte proliferation, maturation of chondrocytes at inappropriate position, and a failure of osteoblast development in endochondral bones
Pale green, albino, and albino stunted seedling phenotypes. Lack of plastid ribosomes
High chlorophyll fluorescence and lack of phylloquinone
Resistance to the estrogen receptor-modulating drug toremifene
Displaced anterior nerve ring and neuronal cell migration defects including irregular localization of canal-associated neurons (CAN), hermaphrodite-specific neurons (HSN), anterior lateral microtubule neurons (ALM), and the right (but not the left) Q neuroblast (QR) and its descendants (PubMed:16109397, PubMed:9851916). Axon growth and guidance defects whereby some HSN, male CP neurons and CAN extend ectopic axons or branches, and furthermore some HSN irregularly route towards the ventral midline of the body (PubMed:16109397). Disorganized cells of the anterior ganglion which are normally compacted together when they form the head ganglion in wild-type animals (PubMed:16109397). Double knockout with mom-5 or cwn-2 results in enhanced CAN migration defects (PubMed:16109397). Double knockout with Wnt ligands cwn-1, cwn-2, egl-20 or frizzled protein mom-5 rescues the ALM migration defects in the single cfz-2 knockout (PubMed:16109397). Triple knockout with cwn-1 and cwn-2 results in enhanced neuronal cell migratory defects (PubMed:16109397)
Cells produce large aggregation streams under conditions in which wild-type cells form discrete aggregates. They are unable to induce prespore differentiation, do not express prespore-specific genes and do not produce mature spores. The vast majority of these cells participate in multicellular development and preferentially localize to the very anterior of the slug and form the prestalk and stalk components
Slight defects in growth, reproduction and glucose homeostasis
Mutant accumulates nm(5)s(2)U34 and cannot form mnm(5)s(2)U34
Not essential, however growth is severely inhibited in the presence of 0.5 mM L-serine, but not in the presence of 0.5 mM L-ser plus 0.5 mM L-threonine
Sensitive to the cell envelope stressors ampicillin, deoxycholate, and ethylenediaminetetraacetic acid (EDTA) (PubMed:30936371). Decreases virulence in a mouse model of infection (PubMed:30936371)
Disruption of dop abolishes pupylation. Cells lacking this gene also become hypersensitive to reactive nitrogen intermediates (RNI) and are severely attenuated for survival and growth in mice. They also cannot depupylate proteasome substrates
Oocytes and embryos lacking maternal PolD3, show no nuclear localization of the delta complex members PolD1 and PolD2, resulting in limited genome replication during the earliest cell cycles and thus early developmental arrest (PubMed:31100062). Mutants, presumably with maternal but not zygotic PolD3, develop normally however adults display a variable degree of bristle loss or shortening, and females are sterile while males are fertile (PubMed:31100062). In larval salivary glands, the delta complex localizes normally to the nuclei and chromosomes display a significant decrease in homologous recombination repair (PubMed:31100062). Chromosomes also exhibit spontaneous double strand breaks that primarily result from defects in genomic replication and, to a lesser extent, in DNA repair synthesis (PubMed:31100062)
Defects in the number and migration of glial cells located within the lamina plexus of the developing eye; the lack of glial cells causing mistargeting of the R1-R6 axons in the optic lobe. Lamina neuron development is normal
Unlike E.coli, triple recB-recC-recD deletion is no more sensitive to DNA damaging agents (UV light sensitivity, mitomycin C, methyl methanesulphonate or ionizing radiation) than wild-type; has reduced resistance to H(2)O(2) which is exacerbated by further adnA-adnB deletion. Triple mutants have no effect on homologous recombination or on NHEJ of blunt-end, 5'- or 3'-overhang DSBs or on incompatible 3'-chromosomal overhangs. However the triple mutant disrupts all single-strand annealing repair of DSB
Leads to an altered cell wall structure with a less electron dense inner layer of the cell wall, and a disorganized outer layer
Insensitivity to root growth regulation by root CLE peptides (e.g. CLE8, CLE9/CLE10, CLE11, CLE13, CLE14, CLE16, CLE17, CLE18, CLE20, CLE21, CLE25, CLE26, CLE40, CLE41/CLE44 and CLE45) (PubMed:28607033). Lower carpels production (PubMed:27229734). Impaired interaction with CLV2 (PubMed:27229734). Reduced levels of BAM3, especially at later stages of protophloem development (PubMed:28607033). Ectopic fruit organ initiation after floral meristem termination (PubMed:21705761). Enhanced resistance to nematode infection (PubMed:21265896). Enhanced disease resistance response to the bacterial pathogen Ralstonia solanacearum (PubMed:26990325)
No visible phenotype, but unable to grow on uracil as sole nitrogen source
Significant decrease in tRNA nuclease activity of contact-dependent growth inhibitor CdiA-CT from strain 536 / UPEC (deletion in strain BW25113)
Maternal mutant embryos lack the body axis: embryos develop normally during cleavage and blastula stages but lack the embryonic shield at the shield stage (PubMed:30467143). The dorsal organizer is absent and embryos fail to form the head and other dorsoanterior tissues (PubMed:30467143)
Mice are developmentally normal and fertile but accumulate more splenic and lymph node CD4(+) and CD8(+) effector/memory T-cells with age. TH2 cells display increased TCR-mediated responses, due to delayed surface TCR down-modulation and recycling, and increased production of cytokines. Mice have increased antigen-induced allergic responses
Abolishes the formation of aculene A and accumulates dauca-4,7-diene
Mice have no ciliary rootlets in ciliated cells
Embryonic lethal after the morula stage
Developmental alterations, such as reduced root length, alterations in the shape and number of cotyledons, small rosette leaves with short petioles, early flowering, short siliques with reduced seed number and frequently aborted seeds (PubMed:23221597). Lower pre-mRNA splicing events and reduced levels of U6 snRNA, but elevated levels of U4 snRNA (PubMed:32396196)
RNAi-mediated knockdown results in embryonic lethality due to developmental arrest during morphogenesis (PubMed:30279189). RNAi-mediated knockdown at the L1 larval stage results in increased sperm production and no oocyte production (PubMed:14706697). RNAi-mediated knockdown at the L1 larval stage results in the accumulation of unspliced mRNAs including ama-1 and ife-4 in the cytoplasm, and specifically in the production of an irregular unspliced form of the sex determining protein tra-2, which accumulates in the cytoplasm and inhibits the regular tra-2 isoforms a and c reducing their expression and disrupting their nuclear localization (PubMed:23149939). RNAi-mediated knockdown in L4 hermaphrodite larvae results in 90% embryonic lethality with embryos exhibiting elongation defects (PubMed:14706697). RNAi-mediated knockdown reduces the expression of pie-1 in P2 blastomeres (PubMed:30279189). RNAi-mediated knockdown together with nxf-2 RNAi results in severe growth retardation, lethality and reduced accumulation of unspliced tra-2 in the cytoplasm (PubMed:23149939). RNAi-mediated knockdown together with ire-1 RNAi restores fertility, reduces the accumulation of unspliced tra-2 in the cytoplasm and suppresses germ line masculinization of the single rnp-4 RNAi mutant (PubMed:23149939)
Reduced grain yield. Increased levels of copper in roots. Decreased levels of copper in shoots and grains
Thermosensitive dwarf mutant. Reduced plant height, root length and crown root number at 30, 32.5 and 35 degrees Celsius, whereas they grow similarly to wild-type at 25 degrees Celsius except for a slightly reduced plant height. At tillering stage, plants grown in a hot climate show narrowed leaf blades mainly due to a decrease in vascular bundle and lateral vein numbers, and all internodes are shortened. Furthermore, cross-sections of leaf sheath, leaf blades, internodes and root maturation zones do not show a significant difference in cell elongation, but a reduction in cell numbers compared to wild-type
Tmem174-deficient mice show markedly increased serum levels of Pi, FGF23, and PTH, resulting in vascular calcification. In addition, deficient mice exhibit reduced SLC34A1 responsiveness to FGF23 and PTH administration
No change in sensitivity to excess L-cysteine. Cells produce about 15% of wild-type levels of hydrogen sulfide in the presence of excess cysteine
Increased number of peroxisomes and accumulation of peroxisomal proteins
Mutation impairs colony surface architecture (PubMed:16430695). Mutant produces fewer and altered amyloid fibers (PubMed:21477127)
Cells are unable to grow on dimethylsulfonioproprionate (DMSP) as sole carbon source
Increases the production of AK-toxin I and does not affect the virulence to Japanese pear leaves
Mice are immobile at birth and die shortly thereafter. They do not form neither acetylcholine receptor clusters nor neuromuscular synapses
No visible phenotype. Mice appear healthy and are fertile
RNAi-mediated knockdown results in mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) deficiency (PubMed:29590638). Mitochondria in the flight muscle shows a wide range of structural abnormalities including dispersed cristae, onion-like swirling membranes, swollen mitochondria, sparse matrix and irregular cristae densities (PubMed:29590638). Eclosion rate is reduced, locomotion and feeding are severely impaired and lifespan shortened (PubMed:29590638). In the brain, there is a pericerebral fat body deficit (PubMed:29590638). RNAi-mediated knockdown in neurons shortens lifespan and results in mild defects in feeding behavior and geotaxis response (PubMed:29590638). Results in lipid droplet accumulation in the glia (PubMed:25594180). RNAi-mediated knockdown in the glia results in no lipid droplet accumulation (PubMed:25594180). RNAi-mediated knockdown in differentiated muscle impairs feeding and locomotion, and shortens lifespan (PubMed:29590638)
Cells lacking this gene cannot grow in minimal medium, in contrast to wild type. ysaA, serA, and serC deletion mutants have virtually identical profiles when observed across all the conditions studied, likely placing YsaA in the serine biosynthesis pathway. The defect is complemented by glycine, or a combination of serine and other amino acids such as glutamine or glutamate. The inability of serine alone to rescue the growth defect of the deletion mutant is due to serine toxicity
Hyperproliferation of lateral roots. Small and epinastic cotyledons and true leaves. Rare floral organs and sterile flowers. High levels of endogenous free and conjugated auxin
RNAi-mediated knockdown leads to disorganized actin-containing I band filaments, disorganized dense bodies in the muscles and reduced motility
Mutant shows a significant increase in the intracellular copper concentration after 90 and 135 min of exposure to copper
Worms exhibit defects in hermaphrodite gonadogenesis and germline proliferation which are associated with a reduction in sheath cell number
Embryos have various defects including smaller heads and eyes
Partially blind to far-red (FR) (PubMed:15469493, PubMed:11711433, PubMed:11726703, PubMed:19482971, PubMed:16045472). Impaired inhibition of hypocotyl elongation and cotyledons expansion under continuous FR light conditions (PubMed:11711433, PubMed:11726703, PubMed:8364355, PubMed:22582101, PubMed:19482971, PubMed:16045472). Absence of FR-induced killing response (PubMed:11726703). Increased seed germination rate in salt stress conditions (PubMed:25071219). In plants lacking FHY1 and FHL, altered phototropism (e.g. phototropic bending) associated with abnormal consitutive cytosolic localization of PHYA (PubMed:22374392, PubMed:17566111). In the double mutant fhl fhy1 several PHYA-dependent phototropic responses are altered (e.g. hypocotyl elongation and cotyledon opening under high-irradiance conditions and seed germination under very-low-fluence conditions), but not for some PHYA-dependent responses such as the abrogation of negative gravitropism in blue light and red-enhanced phototropism (PubMed:17566111). Hyposensitivity to blue light (B) (PubMed:16045472)
Lethal. Larvae die at the transition from third larval instar to prepupal stage
Pale green leaf phenotype. Global defects in chloroplast translation
Straight flagella, mainly at the poles (PubMed:10632878). Cells lacking flgA2 but not flgA1 are hypermotile, display an increased number of flagella per cell, as well as an increased flagellum length (PubMed:23989184). Cells lacking both flgA1 and flgA2 show defects in motility, whitout affecting surface adhesion ability (PubMed:20363933)
Viable with a slight decrease in egg-laying (PubMed:28158808). Defective arginine methyltransferase activity with reduced asymmetric dimethylation of targets (PubMed:21531333, PubMed:28158808). Reduced asymmetric arginine dimethylation of mitochondrial proteins which results in defective mitochondrial oxidative phosphorylation activity characterized by a reduced oxygen consumption rate during aerobic respiration as compared to wild-type animals, defective electron chain function and increased reactive oxygen species production (PubMed:27994012). This overall leads to reduced ATP synthesis and increased mitochondrial stress with an up-regulation of stress response genes conferring a food avoidance phenotype (PubMed:27994012). Defective symmetric arginine dimethylation of targets in mitochondria (PubMed:27994012). Increased phosphorylation of daf-16, increased binding of daf-16 to ftt-2 and subsequently increased cytoplasmic retention of daf-16 (PubMed:21531333). Reduced lifespan as a result of reduced expression of longevity-related proteins such as sod-3, mtl-7, sip-1 and lys-7 (PubMed:21531333, PubMed:28158808). Increased sensitivity to heat and oxidative stress (PubMed:28158808). Double knockout with prmt-5 results in prolonged larval development, shorter body size, reduced brood size, decreased egg-laying and 30% of eggs fail to hatch (PubMed:28158808). Double knockout also results in reduced asymmetric and symmetric arginine dimethylation of proteins (PubMed:28158808)
RNAi-mediated knockdown in the posterior compartment of the larval wing disk increases cell size in the posterior compartment of the adult wing, resulting in an increase in the size of the posterior compartment as well as an increase in the ratio between the posterior and anterior areas. Knockdown of the gene is embryonic lethal. Neuronal-specific knockdown results in deficits in habituation learning, as demonstrated by the light-off reflex habituation assay
Impaired IL-18 signaling
Mice are born at the expected Mendelian rate and look overtly normal. In the cochlea, outer hair cells form, but appear to degenerate as hearing matures. Inner hair cells remain intact. Hearing loss is already detected at P15 and progresses at all frequencies by P60
Severed axons in wild-type flies disappear completely within a week of injury, whereas axons of neurons homozygous for any one of the three loss-of-function alleles: l(3)896, l(3)4621, and l(3)4705 persist for several weeks after severing (PubMed:22678360). After infection with Gram-negative bacteria, the respiratory epithelium displays an over-active immune response with a greater increase in expression of Drs compared to wild-type larvae (PubMed:22022271)
Embryonic lethality at 10.5 dpc
Severe defects in both chloroplast and nuclear photorelocation movements resulting from the impaired regulation of chloroplast-actin filaments
No visible phenotype under normal growth conditions, but the double mutant plants pmdh1 and pmdh2 show seedling growth arrest 5 days after seed imbibition
Homozygous knockout mice for Dtnb are viable and fertile, and are normal in appearance (PubMed:11585924, PubMed:16540561). Double knockout mice for DTNA and DTNB genes have a mild myopathy plus synaptic defects and abnormal motor behavior (PubMed:16540561)
Mice are protected from the lethal septic effects of intraperitoneal LPS administration observed in wild-type mice (PubMed:23872679). Double knockout with TREX1 does not show a visible phenotype (PubMed:18724932)
Disruption of the pps gene cluster abolishes the production of both phthiocerol and phenolphthiocerol derivatives
Strongly increased bacterial disease susceptibility
Embryonic lethality caused by impaired gastrulation (PubMed:8922529). During early development, the egg cylinder fails to be divided into the three cavities, suggesting a deficiency in extraembryonic mesoderm formation resulting in the failure to form the amnion or chorionic mesoderm (PubMed:8922529)
Pollen cell death after mitosis, during the late stage of development, characterized by collapsed pollen grains, shrunken, with highly deformed exines and reduced size
Impairs the production of the xanthones shamixanthone and epishamixanthone; and accumulates variecoxanthone A and emericellin (PubMed:21351751)
Deletion of the gene abolishes SZN production
Nrt1.11 and nrt1.12 double mutant is defective in high-nitrate-enhanced growth
Mutant is extremely defective in intracellular growth
Magnetosomes are dispersed in groups of 2-3 throughout the cytoplasm, no evidence of magnetosome-associated filaments. Cells form magnetite and turn in magnetic fields (PubMed:16373532, PubMed:26884433). Unanchored magnetosomes move randomly in the cytoplasm. Magnetosomes are unevenly segregated to daughter cells (PubMed:28790202). About 45% reduction in magnetosome alignment; a double mamK-mamK-like deletion has a 65% reduction in magnetosome alignment. MamK-like protein forms many fewer filaments (PubMed:24957623). Another paper shows deletion of mamK to yield approximately wild-type magnetosomes (PubMed:20161777). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
No visible phenotype under normal growth conditions, but seeds have decreased germination speed after imbibition, without affecting overall germination rate
Albino
Deletion of the gene does not affect growth on glucose and arabinose, but it has a negative effect on the ability of the mutant to grow on the alpha-1,5-arabinose oligomers alpha-1,5-arabinobiose, alpha-1,5-arabinotriose and alpha-1,5-arabinotetraose. AraE/araN double mutant is unable to grow in the presence of alpha-1,5-arabinobiose
Mice appear healthy, but males are completely sterile, due to defective meiotic chromosome synapsis during spermatocyte development. Testes weight is much reduced in mutant mice. Females display reduced fertility
The s40-3a mutant, with low but constitutive S40-3 levels, exhibits a staygreen phenotype and delayed senescence associated with a reduced expression of WRKY53, SEN1 and SAG12 genes, especially at later stages of development (PubMed:20238146). Reduced cyst nematodes female/male sex ratio (PubMed:29378065)
Mutants lose phage DMS3 infection-dependent inhibition of biofilm formation while there is normal biofilm formation in the absence of phage infection. Decreased production of crRNA in the presence or absence of phage. Disruption of the entire Y.pestis-subtype CRISPR region disrupts crRNA production but does not alter phage resistance (possibly OLNs PA14_33350 to PA14_33310, and the flanking CRISPR loci), indicating this CRISPR is not involved in phage resistance
Cells lacking this gene are not severely sensitized to RNI and display no accumulation of the proteasome substrates Mpa, FabD and PanB
Animals display more and larger germinal centers (PubMed:17828269). In response to intranasal administration of IL33, lung inflammation is reduced compared to wild-type and is associated with low infiltration by inflammatory cells, especially granulocytes, a severe reduction in Th2-type cytokine secretion, including Il4, Il5 and Il13 in bronchial alveolar fluids, and reduced up-regulation of Il6, Csf3, Cxcl2 and Ccl5 mRNAs (PubMed:29686383). In addition, the increase in IRAK3/IRAK-M protein levels in infiltrated inflammatory cells is impaired (PubMed:29686383). In an ovalbumin-induced model of allergic asthma, causes reduced lung inflammation and, reduced Th2-type cytokine levels and inflammatory cell infiltration in bronchial alveolar fluids (PubMed:29686383)
Sixty percent of animals display an egg laying defective phenotype. Animals display numerous defects in the reproductive system and have a reduced brood size
Affects the lengths of both the long and short axes of the cell, but especially the long axis. Cells become shorter and fatter and form round or oval shapes
No visible phenotype under normal growth conditions, but the double mutant plants fypp1 and fypp3 exhibit severe developmental defects in roots and leaves, and show defective gravitropism
Increased growth of the perineurial glial layer of the larval peripheral nerve. Hyperexcitability at the larval neuromuscular junction (NMJ) and memory formation defects in the adult
In EDC plants, defects of cytokinesis (PubMed:25806785). The double mutant myb3r1 myb3r4 often fails to complete cytokinesis, resulting in multinucleate cells with gapped walls and cell wall stubs in diverse tissues (e.g. in embryo during the first or second division after fertilization, in stomata guard mother cell) and several pleiotropic developmental defects, and associated with the selective reduction of several G2/M phase-specific genes transcript levels (e.g. CYCB2, CDC20.1 and KNOLLE). Hypersensitivity to caffeine, an inhibitor of cytokinesis (PubMed:17287251, PubMed:21862669). Impaired powdery mildew (e.g. G.orontii)-induced endoreduplication. Reduced G.orontii growth and reproduction leading to an enhanced resistance to powdery mildew (PubMed:20018666)
Reduced arsenate resistance and increased accumulation of arsenic in shoots and roots
Leads to elevated levels of N-methylloline (NML) and lacks N-formylloline (NFL)(PubMed:18655839)
Promotes neural differentiation. Accelerated emergence of neural progenitors and mature neurons in differentiating embryonic stem cells
RNAi-mediated knockdown causes early embryonic lethality with embryos arrested at the 100-200 cell stage (PubMed:11707440). The few larvae which survive have incomplete gut development and die at the L1 stage (PubMed:11707440). RNAi-mediated knockdown at the L3 larval stage causes a growth delay, adults are shorter and thinner, and lay fewer eggs (PubMed:11707440)
When associated with disruption in CAR1, CAR5 and CAR9 genes, reduced sensitivity to abscisic acid (ABA) during seedling establishment and root growth regulation
Cells lacking this gene and ftsE, the previous gene in the operon, delay sporulation onset, as a result of which they form a medial rather than polar septum at the onset of sporulation. This is presumably due to slower phosphorylation and activation of the spo0A transcriptional regulator. However, at later time points these cells undergo polar division and eventually form smaller than wild-type mature spores
Does not affect the susceptibility to azoles, but displays slightly lower minimum inhibitory concentrations (MICs) to cycloheximide and higher MICs to rhodamine 6G (R-6G) (PubMed:29378705). Causes further increase in susceptibility toward fluconazole and itraconazole, when AFR1 and MDR1 are also deleted (PubMed:29378705)
Deletion mutant has decreased resistance to oxidative and heat stress (PubMed:21703240). Mutant responds poorly to glucose (PubMed:21696463)
Increased biofilm formation
Mutant mice produce less type I IFNs and exhibit increased susceptibility to viral infection
Leads to the accumulation of a large amount of shunt product scytalone
Disturbed release of volatile organic compounds (VOCs) in flowers, including benzoides and phenylpropanoids, which accumulate to toxic levels in the plasma membrane
No visible phenotype under normal growth conditions, but mutant plants have significant reduction of ferulate in leaf cell wall
Knockout mice exhibit impaired generation of plasma cells and overall deficient antigen-specific humoral immune response
Mice show a deficit of GABAergic interneurons, associated with hyperactivity, deficient spatial memory and social behavior (PubMed:26171716, PubMed:28647593). Mice show a selective reduction in functional inhibitory synapses, associated with a selective reduction of parvalbumin interneurons in hippocampus and cortex (PubMed:26171716). In neurons, a reduction of symmetric (inhibitory) synaptic density, length of synaptic contacts and postsynaptic density is observed (PubMed:31529526). Moreover, cortical neurons are characterized by the predominance of the simplified type of synapses with the emergence of negative curvature of the synaptic zone (PubMed:31529526). Presynaptic zones of cortical neurons show an increased number of synaptic vesicles in opposite to the decreased number of synaptic vesicles in the presynaptic zones of hippocampal neurons (PubMed:31529526). Mice lacking Clstn1, Clstn2 and Clstn3 display behavior disorders, characterized by hyperactivity in normal environment, hypersensitivity to stress, and show tendency to freeze in novel environments (PubMed:35279170)
Impaired perception of fungal endopolygalacturonases (e.g. BcPG3) leading to absence of necrosis upon B.cinerea BcPG3, BcPG2, BcPG4, and BcPG6 or A.niger AnPGB treatments
Increased root length and pollen development defects
No visible phenotype under normal growth conditions, but leaves of mutant plants contain decreased levels of lysophosphatidylcholine (LPC) and lysophosphatidylethanolamine(LPE), but increased levels of free linolenic acid, jasmonic acid and methyl jasmonate, as well as the oxylipin-biosynthetic intermediates 13-hydroperoxylinolenic acid and 12-oxophytodienoic acid
Homozygous knockout mice show neonatal lethality (PubMed:26252542). Normally delivered newborn mice exhibit normal gross morphology, early motor activity, and response to painful stimuli (PubMed:26252542). They quickly develop severe respiratory distress with gasping and cyanosis, and die within 20 to 60 minutes after birth (PubMed:26252542). Normally developed trachea and diaphragm structure as well as no obvious gross morphological or histological abnormalities in the heart, brain, or liver suggest that abnormal lung development is the primary cause for the neonatal lethality (PubMed:26252542). Mutant mice exhibit morphological abnormalities of the lungs, including atelectasis with collapse of the alveolar space and unexpanded intra-alveolar septae (PubMed:26252542). This is associated with an impaired maturation of type 2 alveolar epithelial cells which is probably due to their failure to properly produce pulmonary surfactant (PubMed:26252542)
Mice exhibit normal caveolar morphology and cardiac function under physiological conditions, whereas upon alpha-1 adrenergic receptor stimulation, show attenuation of cardiac hypertrophy accompanied by suppressed MAPK1/2 activation
Mutant produces similar amounts of exopolysaccharides and shows no significant differences in the biofilm biomass between light and dark conditions. Mutant also forms a higher number of white nodules compared with the wild-type, independently of the illumination conditions
Severe growth defect in host erythrocytes which is rescued by the addition of exogenous purines (PubMed:18957439). Loss of purine nucleoside phosphorylase activity (PubMed:18957439)
Cells lacking this gene lose the ability to produce pyrrolnitrin
Mutants exhibit a lean phenotype, which is age-related, becoming apparent after 20 weeks of age. Despite greater food intake, they weigh less, store less fat in white adipose tissue (WAT), have lower plasma glucose and cholesterol concentrations and enhanced whole-body energy expenditure, due mostly to increased resting energy expenditure, with no increase in physical activity. They show a a higher rate of fatty acid oxidation in WAT (PubMed:26049045, PubMed:29686991). When fed a high-fat diet, they are protected against weight gain and reduction of insulin sensitivity (PubMed:28646079)
Embryonic lethal at the homozygous state. At 13.5 dpc, all homozygous embryos are significantly smaller compared to wild-type and heterozygous littermates and present with exencephaly. Male and female embryos lack kidney and show absence of Wolffian and Muellerian ducts, respectively. However, mesonephric tubules are consistently observed. Some potential remnants of ureteric bud are present in most mutant embryos. In male mutant embryos, the gonads are severely affected, being small and with poorly organized sex-cords compared to wild-type littermates. Mutant embryos also show cardiac morphogenesis defects with superimposed ventricles
Disruption results in a marked decrease of resistance to bacitracin
Small and shriveled seeds. Retarded growth of the embryo after the heart stage, but normal morphogenesis and pattern formation of the embryo and endosperm (PubMed:18567831). Shrivelled collapsed seeds (PubMed:18849529)
Embryonic lethal (PubMed:17151285). In follicle cells, abnormal apical accumulation of the basal membrane (BM) proteins trol and vkg (PubMed:24828534). Decreased expression of strat in follicle epithelial cells (PubMed:28228250). RNAi-mediated knockdown in both larval salivary glands and fat body, results in small salivary glands that accumulate lipid droplets. This is likely due to the observed decrease in PtdIns levels that would lead to low insulin pathway activity and defective cell growth. RNAi-mediated knockdown in the fat body also results in a decrease in PtdIns levels in the fat body and a decrease in fat body size (PubMed:24603715)
RNAi-mediated knockdown results in extended lifespan with increased fecundity and suppression of age-related decreased climbing activity and intestinal integrity (PubMed:27313316). Does not affect oxidative stress resistance (PubMed:27313316). RNAi-mediated knockdown in fat body or neurons does not show any phenotype (PubMed:27313316). Simultaneous knockdown of AhcyL1 in intestine results in extended life span (PubMed:27313316)
Mice with a stop codon in the third PDZ domain have impaired spatial learning. NMDA-mediated synaptic plasticity is lost even though receptor levels and localization are unchanged. Long-term potentiation of synaptic transmission is enhanced due to minimal long-term depression
Deletion of the gene leads to slow-growth phenotypes for both D-galactitol and D-altritol
Knockout mice are resistant to IgE-mediated systemic anaphylaxis
Embryonically lethal. Most embryos survive up to 13 dpc, but display important defects in skeleton development, including spina bifida, fusions of cervical vertebrae and ribs, and incomplete fusion of the skull parietal bone. Embryos display also abnormal mucosa lining the gastrointestinal tract, including fewer and misshapen villi and loss of pericryptal mesenchyme. At about 16 dpc, embryos display extensive hemorrhaging
Impaired behavior and fitness, probably due to loss of pheromone sensing. Ants also display gross neuroanatomical defects in the antennal lobe, with a dramatic decrease in the number of antennal lobe glomeruli
Deletion mutant retains 85% of its transport activity at pH 6.5, but it loses 79% and 88% activity at pH 7.5 and 8.0, respectively
Leads to increased resistance to zymolyase treatment and to boric acid
Leads to hypersensitivity to L-cysteine. Abolishes the ability to grow on human hair and nails as substrates
Plants are more resistant to pathogens such as P.syringea and P.parasitica and develops spontaneous lesions
Mice are viable but display altered production of mucus with loss of production of MUC2 despite expression of its mRNA. They also display an increase in mast cells in the intestine, an increased expression of inflammation-specific genes, and frequent rectal prolapse. This is associated with a higher susceptibility to colitis
No visible phenotype. Mice display normal levels of lymphocytes in spleen, and normal activation of T-cells by antigenic stimuli. In contrast, production of pro-inflammatory cytokines by macrophages is much reduced. The effect on contact hypersensitivity and experimental autoimmune encephalomyelitis is controversial. Reduced size of the lateral olfactory tract
Reduced phosphorylation of Mapk1/Erk2 and Mapk3/Erk1, both basal levels and those induced by EGF treatment
RNAi-mediated knockdown in the prothoracic gland results in developmental arrest at the larval stage. This larval-prepual arrest can be rescued by supplementing larvae diet with 20-hydroxyecdysone (20E)
Impairs growth
Blocks galactose utilization, but does not impair growth on glucose
Hypersensitivity to abscisic acid (ABA) during seed germination and to methyl viologen (MV) at the seedling stage, associated with a reduced expression of the superoxide dismutase CSD3 and an enhanced accumulation of reactive oxygen species (ROS) after ABA treatment
A slight increase in motility. No visible effect on curli production (PubMed:18713317). Decreased biofilm formation, very little associated poly-GlcNAc production, and a complete loss of aminoglycoside-mediated induction of biofilm formation (PubMed:19460094)
Knockout mice display retarded growth, a dome-shaped skull, and develop severe hydrocephalus with stenosis and closure of the ventral caudal third ventricle and the aqueduct
Death shortly after birth. Neuron-specific deletion within the first 3 weeks after birth is lethal in 75% of animals. Surviving animals show accumulation of neurofilament proteins in neuronal soma, age-dependent sensory neuron degeneration, loss of large caliber axons, and hind limb paralysis with a stronger effect on sensory neurons compared with motor neurons
Accumulation of blood in the central part of the fetal testis. Increased ectopic apoptosis in periendothelial cells of the testis
Viable. Retinal anatomy is grossly normal, although thickness of the INL is reduced. In addition thickness of the innermost region consisting of the inner plexiform layer, ganglion cell layer and optic nerve fiber layer (IPL, GCL, NFL), is reduced. Optomotor responses in dim conditions are impaired. Electroretinography shows completely absent b-wave response under dim conditions, and milder abnormalities under bright conditions (PubMed:24598786). Abolishes ON-responses and delays OFF-responses in retinal ganglion cells (PubMed:28334377). Rod photoreceptors show normal morphology (PubMed:28334377). Cone photoreceptor synapses show morphological abnormalities including a decrease in the number of triad processes in cone pedicles in favor of diad processes, the number of flat contacts at the base of pedicle synapses are increased, deep invaginating contacts made by cone ON-bipolar cells are lost, and vacuole-like structures are present at cone synaptic terminals (PubMed:28334377)
Malfunction of the NDH complex
Differentiation of tracheary-like elements of xyleme at the site of the phloem pole leading to seedling lethality
Small and chlorotic, but not seedling lethal. Defective in chloroplast protein import
Decreased embryonic survival between 9 and 15 dpc. Surviving embryos are about 20% smaller than their littermates by 15 dpc. Most of the newborn pups die during the first week after birth, and none live longer than 4 weeks. Pups are about half the size of their littermates 8 days after birth, have dismorphic facial features and severe locomotor deficits. Pups display impaired muscle development and defects in bone development including a hunched spinal column, plus poorly calcified and brittle bones in vertebrae, ribs, femur and skull. Mutant mice have also mild anemia and impaired mucus production in the gastrointestinal system. Outcrossing increases the length of the lifespan, but does not increase the number of pups that survive after the fist week. Surviving males display testicular atrophy and are infertile. About one third of the surviving females produce offspring, but do not nurture their pups
Deletion mutant shows restricted growth on L-arabinose but grows on D-xylose as the wild type
Deletion of both larO and larQ leads to a loss of lactate racemase activity. Addition of Ni(2+) (but not Co(2+)) restores lactate racemase activity in this mutant
RNAi-mediated knockdown results in maternal effect lethal (Mel phenotype) and masculinization of the germline (Mog phenotype) phenotypes (PubMed:31147388). RNAi-mediated knockdown results in defective activity of the PIWI-interacting RNA (piRNA) silencing pathway (PubMed:31147388)
No phenotype under normal conditions. Upon infection with Rift Valley fever virus (RVFV) or La Crosse virus (LACV), knockdown flies exhibit increased mortality. No phenotype upon infection with other viruses, including vesicular stomatitis virus (VSV), Sindbis virus (SINV), nor Drosophila C virus (DCV)
A fliF mutant is attenuated in a murine model of infection. As the infection progresses, the number of cfu per spleen from mice infected with the mutant is significantly lower than the number from mice infected with the wild-type
Accumulates the unprenylated precursor of nidulanin A, but none of the three prenylated forms, including nidulanin A and two oxygenated related compounds (PubMed:23248299)
Female flies show stem cell tumors in the female germ line as well as female-to-male somatic transformations (PubMed:26324914)
Produced cells are larger and a large amount of them contains more than 2 nuclei
Mice are unable to form spatial long-term memory
Embryos have a small head, eyes, jaw and an underdeveloped gut. Moreover many mutants display diminished yolk consumption and uninflated swim bladder as well as embryonic lethality. DNA methylation is impaired during embryogenesis and embryos display defects in lens development and maintenance. No fertility defects are noted for heterozygous animals
Mutant mice have clear white fur with red and transparent eyes without melanin in the retinal pigment epithelium chorioid
Embryonically lethal before 10 dpc
Mice are born at the expected Mendelian rate, appear healthy and normal, but show impaired glucose tolerance and impaired insulin secretion in response to glucose (PubMed:12031972). Pancreatic islets from mice lacking both Ptprn and Ptprn2 contain decreased numbers of insulin-containing vesicles and show a further decrease in insulin secretion after glucose stimuli (PubMed:21732083). Mice lacking both Ptprn and Ptprn2 appear normal, but have lower levels of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. Likewise, they have decreased numbers of synaptic vesicles in the hippocampus and show decreased neurotransmitter release after K(+) stimulation; basal levels of neurotransmitter release are unaffected. They show increased anxiety-like behavior with strongly decreased exploratory activity and rearing. Besides, they show defects in remembering conditioned learning. With increasing age, mutant mice develop a tendency to suffer seizures and display a reduced life span; roughly half of the mutant mice are dead after 40 weeks (PubMed:19361477). The majority of female mice deficient in both Ptprn and Ptprn2 are infertile or have small litters, due to abnormalities of the estrous cycle and absence of corpora lutea. These defects are due to decreased levels of luteinizing hormone and follicle-stimulating hormone (FSH) in the pituitary and decreased levels of luteinizing hormone (LH) in the blood plasma. In contrast, male mice lacking both Ptprn and Ptprn2 display normal hormone levels and normal fertility (PubMed:16269463)
Severe growth and developmental retardation. Dwarf plants
Stabilizes the opaque phase
Mice are lipopenic and die soon after birth, apparently from profound reductions in substrates for energy metabolism and from impaired permeability barrier function in the skin
Causes embryonic lethality (PubMed:33021200). Abnormal anterior intestinal function (PubMed:33021200)
Impairs the synthesis of austinol and dehydroaustinol (PubMed:21658102, PubMed:22329759)
Unable to grow on N-benzoyl-Gly-His-Leu as a nitrogen source
No effect on antibiotic sensitivity to the beta-lactam antibiotic cefuroxime (CEF), upon overexpression of the c-di-AMP phosphodiesterase GdpP increased sensitivity to CEF (PubMed:22211522). Double disA-cdaA mutants cannot be made, suggesting they are lethal, while double disA-cdaS and cdaA-cdsS mutants are viable (PubMed:22211522, PubMed:23192352). In single deletions of this gene, germination efficiency is decreased (PubMed:24939848)
Does not affect growth, gene expression or the stability of some repetitive DNA sequences. The genome contains only about 5% of the wild-type level of J in their DNA. Cells lacking both JBP1 and JBP2 show a complete absence of base J
Full embryonic lethality. Mutant embryos are much smaller than wild-type by 9.5 dpc, and the majority are dead by 10.5 dpc. At 9.5 dpc, mutant embryos display fragmentation of basement membranes (PubMed:15377789, PubMed:16467571). The majority of the mutant embryos display dilated blood vessels, particularly in the region of the sinus venosus (PubMed:16467571). Mutant embryos display no decrease in global lysyl hydroxylase activity, due to the expression of other lysyl hydroxylases (PubMed:15377789). Mutant embryos display a nearly complete loss of procollagen glucosyltransferase activity (PubMed:15377789, PubMed:16467571)
Mice are viable, fertile and born at the expected Mendelian rate. However, they show a deficiency of retinoic acid synthesis in both the Harderian gland and skin. The Harderian gland's transcriptome of knockout mice demonstrates overall down-regulation of direct retinoid-dependent genes as well as perturbations in pathways controlling lipid homeostasis and cellular secretion, particularly in sexually immature animals. The skin is characterized by thickening of the epidermis in basal conditions and after UVB light exposure
Oogenesis in female mice takes place normally, but the heterozygous offspring of homozygous mutant females die before mid-gestation due to biallelic expression of imprinted genes normally methylated and silenced on the allele of maternal origin (PubMed:11719692). Male mice are viable but sterile, with a complete absence of germ cells in adult males (PubMed:11719692). Spermatocytes show asynapsis or abnormal synapsis, and do not progress to the full pachytene stage due to demethylation of methylation of both long-terminal-repeat (LTR) and non-LTR retrotransposons (PubMed:15318244)
Cells lacking this gene lose the ability to utilize ethanol as the sole growth substrate (PubMed:31113891). Glycosylated mycofactocins are not detected in this mutant, as well as PMFT and PMFTH(2) (PubMed:33014324)
RNAi-mediated knockdown causes a defect in the clearance of apoptotic cell corpses in gonads, a loss of rab-5 recruitment to cell corpse-containing nascent phagosomes and a decrease in PI3P levels on phagosome membranes (PubMed:18425118, PubMed:22272187). In addition, causes a reduction in mig-14 and rme-8 association with puncta structures as well as an increase in mig-14 protein levels (PubMed:21183797). RNAi-mediated knockdown results in reduced germ stem cell proliferation during larval development (PubMed:28285998)
RNAi-mediated knockdown results in loss of type II neuroblasts
Embryonic development of mutant mice is normal until 13.5 dpc. At this stage, the normal expansion of pancreatic beta cells does not occur. At 18.5 dpc, the numbers of beta cells is dramatically decreased and the pancreatic insulin content is only 2% of wild-type. No effect on the production of other pancreatic hormones, including glucagon, somatostatin and pancreatic polypeptide (PP) (PubMed:11076772). Simultaneous knockout of NKX6-1 and NKX2-2 results in the complete absence of insulin-expressing cells in the pancreas throughout development, and instead accumulation of incompletely differentiated beta cells, a phenotype not distinguable from the single NKX2-2 knockout (PubMed:11076772)
No visible phenotype; due to redundancy with NHX6. Nhx5 and nhx6 double mutant has a slower development, is drastically smaller and is salt sensitive
RNAi-mediated knockdown disrupts mitotic prophase chromosome condensation and chromosome segregation in anaphase leading to aneuploidy (PubMed:11914278, PubMed:19119011). Results in cleavage furrow regression and failed cytokinesis during the second embryonic division (PubMed:23684975)
Changes in thermosensory behavior and temperature-dependent defects in AFD-specific gene expression (PubMed:10428833, PubMed:14711416, PubMed:25467978, PubMed:26725111). Decreased threshold for temperature-evoked activity in the AFD neurons. Defects in negative thermotaxis and isothermal tracking behaviors (PubMed:25467978). Defective in thermal avoidance adaptation. Aberrant thermotaxis at innocuous temperatures (PubMed:25467982). Inappropriate dauer formation under well-fed conditions. Reduced expression of growth promoting daf-7 in ASI sensory neurons (PubMed:26335407). Changes in thermosensory response of AIY neurons (PubMed:26725111). Increased transcription of glutamate receptor glr-1 (PubMed:27462879)
Early flowering, reduced plant size and defects in floral morphology in whorls 1-3, but fully fertile flowers (PubMed:12750345). Reduced seed dormancy and increased germination rate of freshly harvested seeds (PubMed:21799800)
Cells lacking all 10 proteins of the DUP240 multigene family show no obvious alterations in mating, sporulation and cell growth
Death during embryonic or early larval stages. Inactivation in adult eyes results in enlarged eyes with irregular bulging on the surface
Mice do not show any decrease in newborn neurons (PubMed:22079349). Mice lacking both Alk and Ltk show a strong reduction in newborn neurons (PubMed:22079349)
Aberrant callose deposition, defective pollen wall formation during microspore development, and severely reduced male fertility
Embryos die at mid-gestation. The heart tube of deficient mice does not elongate, but anterior and secondary heart field markers are not affected
Reduces growth on D-xylose and xylan, but not on L-arabinose or arabinan
mice were born at the expected Mendelian ratio and are viable and fertile but show basal body docking and ciliogenesis defects in multiciliated lung cells
Reduced seed longevity, severe seedling growth defects during germination and high levels of lipid hydroperoxides and hydroxy fatty acids
Important perinatal lethality. About 57% of the pups have a cleft palate. About 90% of the pups die within 24 hours after birth, including 30% of those that do not have a cleft palate. Surviving mice are runted until weaning, but attain normal body weight in adulthood. They are hyperactive and display behavorial abnormalities. They do not display jerky gait, but have difficulty with swimming, walking on grids, and avoiding to fall from rotarods. Mutant mice are fertile, but females do not display normal nurturing behavior. Mutant mice have abnormal electroencephalograms (EEGs) and tend to suffer from seizures. Brains from mutant mice show strongly reduced numbers of GABA and benzodiazepine receptors. Neurons from dorsal root ganglion show a decrease of about 80% of GABA-induced chloride currents. In addition, mutant mice have an average lifespan of about 18 weeks, instead of the expected 127 weeks (PubMed:9108119). Mutant mice display a lowered threshold to nociception and are abnormally sensitive to touch and heat stimuli. GABA receptor agonists have decreased antinociceptive effects in mutant mice (PubMed:10670447)
Decrease in mouse macrophage survival 2-5 hours after infection
Knockout embryos die at a late gestational stage, with no viable embryo after day 18 of gestation. Mutant embryos produce normal numbers of megakaryocytes and erythroid progenitors, but some show an impairment of erythroblast maturation. They exhibit a multilineage defect in the generation of progenitors for B and T lymphocytes, monocytes and granulocytes
Death in late gestation due to defective definitive hematopoiesis in the fetal liver, possibly due to initiated apoptosis in erythroid cells during terminal maturation
Cells lacking pefB and mutants lacking both pefA and pefB grow normally in axenic medium or on bacterial lawns, and have no major differentiation defect, apart from the fact that mutants lacking pefB have a stalk base thicker than normal
No visible phenotype, not required for BMC formation (PubMed:8071226, PubMed:9352910). Reduced levels of PocR protein; pocR is transcribed in part from the pduF promoters (PubMed:7559322)
Mutants show cartilage defects due to impaired chondrogenesis and have a reduced jaw size
Impaired arbuscular mycorrhiza (AM) fungi (e.g. Glomus versiforme and Gigaspora gigantea) passage across root epidermis and abolished arbuscule formation in root cortex during AM symbiosis, thus leading to aborted hyphopodia and no arbuscules (PubMed:19912567, PubMed:21223389). Reduced accumulation of PT4 in AM roots (PubMed:19912567). Abnormal nitrogen-fixing rhizobial bacteria (e.g. Sinorhizobium meliloti) infection threads and fewer small white root nodules, but normal calcium spiking in root hairs in response to Nod factors (PubMed:21223389)
Pale green with delayed development
Significantly reduces the production of T-toxin and decreases the virulence to maize (PubMed:20192833)
Ftz-like pair-rule cuticular defects
Fishes show a delayed and reduced development of pigmentation. They display a diminished number, size and density of melanosomes
Adult neurodegeneration, with marked dilation of photoreceptor axons (PubMed:10373116, PubMed:26893370, PubMed:29739804). Results in degeneration of lamina and retina, defects in the fenestrated basement membrane and ommatidial disarray (PubMed:26893370, PubMed:29739804). The phenotype is exacerbated in constant light conditions and improves in total darkness (PubMed:29739804). Effects are probably due to elevated levels of very long chain fatty acids (VLCFAs) (PubMed:10373116, PubMed:29739804). Feeding the fly mutant with glyceryl trioleate oil or medium-chain fatty acids, blocks the accumulation of excess VLCFAs as well as development of the pathology (PubMed:10373116, PubMed:29739804). Results in altered neuronal function, including altered sleep rebound following sleep deprivation (PubMed:25409104). Simultaneous knockout of hll results in enhanced retinal degeneration and altered fatty acids metabolism (PubMed:26893370)
Reduced rosette size, delayed senescence, and reduced starch accumulation in chloroplasts of sepals
Embryos are viable, but display a partial loss of junctional component, pac-1, from adherens junctions
Mutant cpk23-1 shows greatly enhanced tolerance to drought and salt stresses and displays reduced stomatal aperture and reduced K(+) content
Abnormal spore germination; spores fail to divide with defective septum
Loss of whole genome N(6)-adenine methylation in the fifth position of the hexamer 5'-ACRCAG-3', no visible growth phenotype. Has a higher plasmid acquisition ability (when plasmids have the methylation hexamer) but a reduced ability to retain plasmids
Suppresses BIR1 (bir1-1) disruption phenotype. When associated with AGD5/NEV disruption, premature shedding of floral organs and enlarge abscission zones
Sterile, however growth rate, size and fat accumulation are not altered in response to a restricted diet in contrast to wild-type animals under the same conditions (PubMed:27457958). RNAi-mediated knockdown results in embryonic lethality as a result of cell division defects at the one-cell stage (PubMed:27689799). Cell division defects include polar body extrusion failure, abnormal spindle positioning, chromosome missegregation and cytokinesis failure (PubMed:27689799). One-cell embryos also have enlarged centrosomes and microtubule growth defects characterized by increased microtubule nucleation, short astral microtubules and elevated expression levels of zyg-1, which is involved in centriole duplication, and tbg-1, a pericentriolar materials factor involved in microtubule nucleation (PubMed:27689799). In other contrasting studies, RNAi-mediated knockdown at the L4 stage of larval development, results in the initial production of viable progeny, that with continued RNAi exposure, grow into sterile adults in which germ cells have a proliferation defect that leads to a reduced sized gonad containing large quantities of sperm and no oocytes (PubMed:15514056, PubMed:15342467). The masculinization of the germline phenotype (also called the Mog phenotype) is likely due to altered activity of the translational repressor gld-1 in these mutants and the translational repression of 'feminizing' genes including tra-2 and rme-2 (PubMed:15342467). RNAi-mediated knockdown in both arms of the syncytial gonad of adult hermaphrodites results in the production of 95% fewer eggs than wild-type and of the eggs produced, all arrest during embryogenesis possibly due to cell division defcts (PubMed:11303786)
Animals lacking this protein exhibit no gross abnormalities and grow to adulthood, although they do exhibit hypertension. The elevated blood pressure appears to be attributable to a decreased level of renal glycine. High-affinity renal reabsorption of glycine is eliminated and intrarenal glycine concentration is reduced
Simultaneous RNAi-mediated knockdown of npl-4.1 and npl-4.2 causes embryonic lethality (PubMed:16647269, PubMed:26842564). In embryos, DNA replication is partially impaired causing a delay in S phase progression in P0, AB and P1 cells; simultaneous RNAi-mediated knockdown of DNA replication checkpoint kinases chk-1 or atl-1 suppresses the delay in S phase (PubMed:18728180, PubMed:26842564). During S phase, prevents DNA replication licensing factor cdt-1 down-regulation and causes cdt-1 accumulation on mitotic chromosomes (PubMed:21981920). Impairs dissociation from the chromatin of components of the DNA replication machinery, including cdc-45, GINS complex component sld-5 and CMG helicase component mcm-3, resulting in their persistent association with chromatin throughout embryonic mitosis (PubMed:21981920, PubMed:26842564, PubMed:28368371). Abnormal ubxn-3 localization into punctate structures in the nucleus (PubMed:26842564). Reduces ufd-1 expression in embryos (PubMed:21981920, PubMed:26842564). Simultaneous RNAi-mediated knockdown of npl-4.1 and npl-4.2 in adults causes a proliferation arrest of mitotic germline cells in the gonad with formation of rad-51 foci on chromatin (PubMed:18728180). Induces the unfolded protein response and increases sensitivity to tunicamycin-induced ER stress (PubMed:16647269). Causes accumulation of misfolded protein cpl-1 in the ER (PubMed:22768338)
Abolishes the production of arthrobotrisins A to D and arthrosporol A, and accumulates three new epoxycyclohexenol/sesquiterpenol hybrids with different oxygenated patterns around the epoxycyclohexone moiety (PubMed:28475838, PubMed:33823587). Leads to a dramatic decrease in the conidial formation but develops numerous traps and kills 85% nematodes (PubMed:28475838, PubMed:33823587). Develops far more adhesive trapping devices and traps and increases the number of captured nematodes by the traps (PubMed:33823587). Shows significantly increased ammonia levels in fungal mycelia (PubMed:33823587)
3-fold increased sensitivity to X-radiation
Impairs the production of chaetoglobosin A but leads to the accumulation of cytoglobosin D and chaetoglobosin J (PubMed:23611317)
Deficient in arabidopyrones
No visible phenotype at birth (PubMed:9180080, PubMed:16880397). Mice are born at the expected Mendelian rate, but gain weight more slowly, especially after the first 30 days after birth (PubMed:9180080). Only half of them are still alive 60 days after birth (PubMed:9180080). Death is due to spontaneous epileptic seizures (PubMed:9180080). Besides, mutant mice display neuronal degeneration in the hippocampus CA1 field, probably due to impaired glutamate removal from the synaptic cleft (PubMed:9180080). Glutamate uptake by synaptosomes from mutant mouse brain cortex is reduced by 94% (PubMed:9180080). Mice deficient in both Slc1a2 and Slc1a3 die at about 17 dpc; they display defects in the brain structure that affects the brain cortex, hippocampus and olfactory bulb, due to impaired radial migration of neurons into the cortical plate and disorganization of the radial glial cell arrangement (PubMed:16880397)
Leads to light-independent conidiation, loss of sclerotial development and oxalic acid production, and reduced virulence on several host plants (PubMed:23118899, PubMed:25625818). Increases conidiation and melanin biosynthesis (PubMed:23147398)
Mutant males are infertile. Mating occurs, but the males are sterile, displaying abnormal spermatogenesis. Disruption of the gene has no effect on the fertility of females. Infertility is due to sperm morphological abnormalities and complete immotility that are observed in all mice. A variable sperm counts, with a complete absence is some individuals is also observed. Spermatogenesis is normal from spermatogonia through meiotic division of spermatocytes. However, at stage IX, step 9, abnormal nuclear morphology of differentiating spermatids appears. It is associated with increased histone retention and decreased histone H4 hyperacetylation, an important step in spermatid chromatid condensation. Finally, spermiation is also affected
Mice fail to mount anaphylactic allergic reactions and display chronic T-cell immunodeficiencies. Lag (lymphoproliferation-autoimmunity-glomerulonephritis) mice do not express Rasgrp1 and display a systemic lupus erythematosus-like phenotype
Lethal at the early stages of larval development. Arrested larvae are small and display molting defects. RNAi-mediated knockdown results in reduced fecundity, and in induction of the unfolded protein response
Knockdown in the nervous system results in reduced lifespan, mobility deficit and shortened synaptic branches of motor neurons
Increased levels of phycobilisomes (PBS) and photosystem I (PSI), decreased levels of photosystem II (PSII) per cell. Cells are unable to undergo state transitions. When combined with an ApcF deletion mutant the cells have decreased PBS, PSI and PSII, and require glucose to grow
The yigI-tesB-fadM triple knockout mutant shows severely limited, but not completely halted, growth on CLA
Loss of plasmid silencing
Collapsed pollen with low viability. Almost no seed production
Blocks the production of aurovertins and accumulates the unmethylated precursor produced by the HR-PKS aurA (PubMed:26340065)
Viable. Reduced axon regeneration 24 hours following injury of D-type motor neurons
Mice are strongly altered in their responses to viral and bacterial challenges due to a severe impairment of interleukin-1 and Toll-like receptor signaling pathways. Malt1 and Irak4 double knockout suggests an additional role of Irak4 in B-cell antigen receptor (BCR) mediated signaling pathway, since the double mutant inhibits B-cell proliferation
Deletion mutants lead to ferritin accumulation and iron overload in the retina leading to retinal lesions
Depletion experiments (using anti-sense RNA) stops degradation of anti-sigma-E factor RseA
Disruption abolishes ligase activity in cell lysates, but mutants grow normally under laboratory conditions
Plants lacking LWD2 do not show obvious phenotypic alterations. Plants lacking both LWD1 and LWD2 are early flowering and this phenotype is more prominent under short-day conditions
Reduced food intake in adults and larvae, reduced locomotor activity, delayed development with mutants taking 200 hours to develop from egg to pupa compared to 130 hours for wild-type flies, reduced levels of the insulin-like peptides Ilp2 and Ilp3, and reduced wing size (PubMed:26168160). Reduced levels of insulin-like peptide Ilp5 and reduced body weight of mid-third instar larvae (PubMed:26020940)
Deletion mutant does not show growth defect in LB medium, but it exhibits an evident growth defect after treatment with airway mucus secretions (AMS). Disruption of the gene alters the intracellular zinc content in VB-MM medium supplemented with zinc. Mutation severely affect the ability of P.aeruginosa to cause acute lung and systemic infections in C57BL/6 mice (PubMed:28898501). Mutant shows a small decrease in the extracellular content of pseudopaline and is partially impaired in nickel accumulation (PubMed:29214991)
Mortal germline (Mrt) phenotype in which there is a progressive decline in fertility with each generation at 25 degrees Celsius culminating in complete sterility after five to six generations (PubMed:28535375, PubMed:28533440). Resistant to nuclear RNAi and defective RNAi inheritance (PubMed:28535375). Reduced trimethylation of 'Lys-9' of histone H3 at endogenous siRNA-directed targets, a small degree of irregularly localized heterochromatin, with 70% correctly localized, defective chromatin compaction in hermaphrodite X chromosomes (PubMed:28535375). Double knockout with the histone methyltransferase met-1 rescues the progressive germline mortality defect in the morc-1 single mutant (PubMed:28535375). RNAi-mediated knockdown results in defective gene silencing (PubMed:22555433)
Hinders tissue development, causes apoptosis in imaginal disk cells, and blocks the Nedd8 conjugation pathway
Cells lacking this gene show a reduced incorporation of nicotinamide. Double mutants lacking both pncB1 and pncB2 show an absence of incorporation of nicotinamide
Mutant does not produce bacillithiol
Perinatal lethality. Pups die shortly after birth, apparently from respiratory failure. Mice show immature lung structure, lack kidneys, have abnormally small thymus and spleen, defects in inguinal lymph node development and in blood vessel formation proximal to the inguinal lymph nodes, and display important skeletal deficiencies. Mutant mice have heparan and heparin chains that are deficient in iduronic acid residues, and that therefore have altered O-sulfation patterns
Decreases sporulation 1000 to 10000-fold, aggregation is delayed. Delays for C-signal-dependent methylation of FrczCD and impairs fruA transcription. This mutant should not have polar effects on downstream genes
RNAi-mediated knockdown results in the ectopic expression of the neuronal identity-inducing transcription factor che-1 in the epidermis
Lagging chromosomes at anaphase and precocious sister chromatid separation upon activation of the spindle checkpoint (PubMed:12686595). In spermatocytes the number of Golgi structures are not affected but they show a mild defect in shape (PubMed:22685323)
Essential. In depletion experiments the level of oligonucleotides is elevated and that of mononucleotides is severely reduced compared to wild-type
The mutant grows at normal rates on glucose and fructose, whereas on gluconate it grows about one-third as fast as the wild-type
No visible phenotype under normal growth conditions, but mutant plants exhibit altered flavonol glycoside patter
Plants are albinos
Mutant shows increased transcription from the ery promoter
No visible phenotype under normal growth conditions (PubMed:23122845). Unable to be colonized by mycorrhizal fungi, with a defect in hyphopodia formation on the surface of the root (PubMed:23122845). Ineffective symbiosis with arbuscular mycorrhiza (AM) fungi (e.g. Rhizophagus irregularis) leading to rare colonizations characterized by malformed arbuscules reduced to trunk with a few initial thick hyphal branches (PubMed:25971550, PubMed:26511916). Impaired induction of AM-related genes (e.g. AMT2;4, AMT2;5, EXO70I, STR, RAM2, LEC5, PT4, VPY, BCP1, SCP1 and RAD1) in the presence of AM-fungi (PubMed:26511916). Insensitivity to phosphate-mediated regulation of the symbiosis with AM fungi (PubMed:26511916)
Embryonic lethal with arrest at stage E5.5. Gastrulation fails and expression of the critical mesoderm differentiation factor T/brachyury is lost
No visible phenotype; due to the redundancy with PRORP3. Prorp2 and prorp3 double mutant is lethal
RNAi-mediated knockdown results in accumulation of magnesium ions in mitochondria, and reduced lifespan. A magnesium-deficient diet rescues the reduced lifespan phenotype
Homozygous KO plants are chlorotic lethal
Mutant embryos die in utero between 8 and 10 dpc. They exhibit large numbers of aberrantly shaped mitochondria. In mutant embryonic fibroblasts, fragmented, rounded mitochondria of irregular diameter are widely dispersed throughout the cell rather than being concentrated around the nucleus
Mice lacking coiled-coil region N-terminal part exhibit disruption of IRAG1-ITPR1 interaction. They have dilated gastrointestinal tract and disturbed gastrointestinal motility. Smooth muscle are no more relaxed by cGMP after phenilephrine-induced contraction and half of the homozygous mice dies before the age of 6 months. Nitric oxide (NO) and cGMP-mediated inhibition of collagen-induced platelet aggregation is strongly suppressed in platelets of these transgenic mice. growth
Fishes exhibit ventral body curvature, reduced spacing of the eyes, and absence or reduction of ventral neuroectoderm, including the floor plate
No visible phenotype when heterozygous. Embryo lethal when homozygous
Cells lacking this gene fail to grow on uridine as the sole source of nitrogen at room temperature (PubMed:20400551, PubMed:33839153). Expression of rutC in trans did not restore growth (PubMed:33839153). However, a plasmid carrying the complete rutCDEFG operon restored growth of the deletion mutant with uridine as sole nitrogen source, suggesting that the lesion in rutC was polar on downstream gene(s) required for rut pathway function (PubMed:33839153)
Cells produce only 2% of the novobiocin
Cells lacking this gene do not accumulate ADP-glucose, however combined inactivation of both glgM and ostA accumulates ADP-glucose
RNAi mediated knockdown targeted to the intestine represses expression of vitellogenin genes
Cells lacking this gene do not grow on methylmercaptopropionate (MMPA) as the sole source of carbon. Growth is severely inhibited on dimethylsulphoniopropionate (DMSP)
Proteome analysis shows that a mutant overexpresses SAM synthase by comparison to wild-type
RNAi-mediated knockdown impairs triglyceride catabolism and further increases lifespan extension in response to bacteria (nutrient) deprivation
Causes adjacent vulval precursor cells (VPCs) to adopt altered cell fate; phenotype exacerbated when combined with simultaneous RNAi-mediated knockdown of apx-1 and lag-2, and further worsened on lin-15 mutant background (PubMed:14960273). Severe vulval precursor cell (VPC) fate abnormalities, vulval defects and failure to up-regulate lip-1 expression, on an osm-11 mutant background (PubMed:18700817)
Morpholino knockdown of the protein causes delayed sound-induced startle response and circular swimming behavior. Morphants show significantly reduced extracellular receptor potentials and impaired mechanoelectrical transduction in hair cells of inner ear relative to controls
Mutant mice are born at the expected Mendelian rate and initially display no visible phenotype. One to four months after birth, they develop skin abnormalities including alopecia and epidermal hyperplasia that are reminiscent of psoriasis
Deletion reduces bacillithiol levels by 30%
RNAi-mediated knockdown causes no visible phenotype (PubMed:12937276). Simultaneous knockdown of npp-2 results in embryonic lethality (PubMed:12937276). RNAi-mediated knockdown in a ced-1 (e1735) and ced-3 (n718) double mutant background partially restores embryonic cell apoptosis (PubMed:27723735)
Do not show arsenic tolerance phenotype
Cells lacking this gene show no impair of cAMP biosynthesis
Defects in pollen tube growth and altered deposition of cell wall components
Not essential (PubMed:18227175, PubMed:26822628). Increased heat sensitivity (at 55 degrees Celsius) (PubMed:18227175). Inactivation of the gene does not affect cell wall lipids, or growth and survival in macrophages, but mutant shows slower growth in the mouse lung and spleen in early infection and fails to produce granulomatous inflammation in either mice or guinea pigs (PubMed:18227175). This is associated with reduced cytokine expression in infected animals and macrophages (PubMed:18227175). Knockout of the gene leads to differential gene expression under low aeration stress, including down regulation of genes in copper response and genes encoding members of folate synthesis super pathway (PubMed:26822628). Survival under low aeration is significantly compromised in this knockout mutant (PubMed:26822628). Knockout mutant shows increased sensitivity to Cu(2+) (PubMed:32808291)
Mutants have no effect on the bacterial adherence to host epithelial and intestinal cell lines
Depletion does not affect localization of FtsZ, FtsA, ZipA, FtsQ, FtsL and FtsI to the division site (PubMed:11703663). Cells containing low levels of FtsN stop dividing while their mean cell length increases (PubMed:20345660). Absence of FtsN is followed by an inverse sequential disassembly of already assembled divisome compounds (PubMed:20345660)
RNAi-mediated knockdown in pupae is adult lethal (PubMed:25797154). Pupae develop to the pharate adult stage and die before eclosion from the pupal case (PubMed:25797154). In pupae, fusion-competent myoblasts (FCMs) fail to fuse with the muscle founder templates (PubMed:25797154). Pharate adults display adherent muscle formation; only partially developed dorsal longitudinal muscles appear to be present but they are smaller and their nuclei are reduced in number and clustered together (PubMed:25797154). RNAi-mediated knockdown in embryos reduces myoblast fusion (PubMed:17537424). In RNAi pupae, there is no effect on myoblast proliferation, migration of the FCMs to the founder templates and initiation of myoblast fusion (PubMed:25797154)
Embryonic hemocytes display a reduced level of apoptotic cell phagocytosis (PubMed:19927123). Larval hemocytes display reduced bacterial phagocytosis (PubMed:19890048). RNAi-mediated knockdown in muscle leads to an increase in the number of ghost synaptic boutons but does not affect the deposition of presynaptic debris while RNAi-mediated knockdown in glia leads to a significant increase in presynaptic debris deposition but does not affect the number of ghost boutons (PubMed:19707574)
Embryo lethality, when homozygous (PubMed:11297513). No visible phenotype was found for other null mutants (PubMed:25646447)
Defective in root growth and leaf vascularization, characterized by more anchor roots at the root-hypocotyl junction. Cells of the root meristem and the cortex of the primary root are short and more radially expanded. Reduced meristem cell divisions in meristems and reduced axial cell elongation in roots. Enhanced ethylene-response, hyperresponsiveness to cytokinin, defective auxin transport and homeostasis, and altered microtubule sensitivity to inhibitors
Mutant shows decreased aerotaxis. Aerotaxis is abolished in the aer-mcpB double mutant
Mutant accumulates dCTP
Auxotroph for lysine
Leads to he dissociation of the cortical endoplasmic reticulum (ER) from the cell periphery and its accumulation in the cytoplasm, in particular in the vicinity of cell tips; when scs22 is also deleted (PubMed:23041194, PubMed:26877082, PubMed:29290560, PubMed:32023460). Affects contractile ring assembly and displays severe cytokinetic defects; when scs22 is also deleted (PubMed:26877082)
Loss of plant growth and root system architecture responses to the rhizospheric Phyllobacterium (PubMed:23398541). Decreased nitrate uptake in the high-affinity range (PubMed:25065551, PubMed:25474587)
Abnormal capsular morphology: lower fiber density, decreases capsular diameter
Severely reduced starch content of endosperm resulting in kernels with a collapsed angular appearance at maturity
Impaired antisense-RNA-mediated gene silencing (e.g. suppression of overexpression of FCA-mediated FLC repression). Delayed flowering and female gametophytic lethality
Knockout leads to severe developmental defects in zebrafish embryos, including heart edema, insufficient cartilage, and skeletal dysplasia
No obvious phenotype. Viable and fertile with normal basic motor functions. However in type 1b boutons at the larval neuromuscular junction of some mutants (30-40%), there is an increase in the number of synaptic vesicles with a large diameter and a decrease in vesicle density under resting conditions. Resolution of synaptic vesicles from endocytic cisternae following an intense stimulation is delayed, and consequently boutons display an increased number of cisternae. Mutant larvae also show an increase in the amplitude of spontaneous miniature excitatory junctional currents (mEJCs), but normal evoked excitatory junction currents (EJCs). No effect on synaptic growth, the number of synaptic vesicle release sites and vesicle budding
Cells lacking this gene are deficient in cobalamin biosynthesis
Leads to the formation of thicker hyphae, which appear less elongated and form more branched hyphae (PubMed:19715768). Results in increased sensitivity to cell wall integrity inhibitors such as glucanex, SDS, congo red and calcofluor white (PubMed:19715768). Impairs phosphorylation of the MAPK mpkA (PubMed:19715768)
Reduced number of trichomes on sepals, cauline leaves, lateral branches and main inflorescence stems
Impairs production of bikaverin, fumonisins, fusaric acid, and fusarins (PubMed:22713715)
Disruption of gene does not lead to complete Cys auxotrophy, but mutant displays a growth defect in an amino acid medium depleted of Cys
Worms exhibit defects in 2 aspects of male mating behavior: response to hermaphrodite contact and vulva location
Mice are more vulnerable to DNA virus infection due to impaired immune response. Knockout mice promote somatic cell reprogramming and higher litter size at birth (PubMed:29593216). Knockout blastocytes show enhanced development (PubMed:29593216)
FIGN and AKAP8 double mutant mice die soon after birth due to cleft palate
Simultaneous RNAi-mediated knockdown of both gpr-1 and gpr-2 causes, in the 1-cell embryo, a decrease in nuclear and spindle movements during prophase, reduced asymmetric spindle elongation during anaphase and mispositioning of nuclei after cell division
RNAi-mediated knockdown in embryos results in failed hatching in 83% of animals (PubMed:30336114). In addition, these embryos lack the anterior pharynx (PubMed:30336114). RNAi-mediated knockdown at the L4 larval stage results in failed development of the anterior pharynx (PubMed:30336114). RNAi-mediated knockdown at this stage results in defective cell cycle initiation, duration and completion in embryos, and abnormalities in chromosome segregation (PubMed:25446273, PubMed:30336114)
Decreases TORC1 activation in response to glutamine
Completely abolishes the production of fumagillin (PubMed:24082142)
Slightly reduced magnetic response, produces chains of wild-type magnetite crystals sandwiched between irregularly shaped, small flake-like crystals. The flake-like crystals are hematite not magnetite. Phenotype is exacerbated when grown in NH(4)(+) instead of NO(3)(-) medium. Double mamH-mamZ deletion cells have a poor magnetic response and very few wild-type crystals; most cells have flake-like crystals (PubMed:23889511). Deletion of 4 consecutive genes (mamY, mamX, mamZ, ftsZm) leads to cells with an intermediate magnetic response where magnetosomes have short chains of nearly regularly shaped, cubo-octahedral crystals flanked by small particles with poorly defined morphologies (PubMed:22043287)
Abolishes the production of ergosterol when erg32 is also deleted (PubMed:18310029). The double disruptant also leads to susceptibility to cycloheximide and to staurosporine, but does not affect tolerance to nystatin and to amphotericin B (PubMed:18310029)
Conditional knockout mice lacking Mettl3 and Mettl14 in germ cells show impaired spermatogenesis, leading to male infertility (PubMed:28914256). Conditional knockout mice lacking Mettl14 in the developing nervous system die by postnatal day 25 due to protracted cell-cycle progression of cortical neural progenitor cells and reduced differentiation of radial glial cells during embryonic cortical neurogenesis (PubMed:28965759)
Cells grow more slowly on solid media and are more sensitive than wild-type to the antitumor agents cisplatin and carboplatin; both effects are exacerbated in sgkA and sgkB double knockout. Exogenous S1P reverses the sensitivity to cisplatin
Mice are viable and healthy but show male sterility due to defects in spermatogenesis (PubMed:27856912). Male mice show hypogonadism and azoospermia with interruption of spermatogenesis at the pachytene stage of meiosis I (PubMed:27856912). Retrotransposons are derepressed due to DNA demethylation (PubMed:27856912)
Mutants exhibit growth defect during infection of mice. They establish a stable infection by three weeks, but the bacterial burden is an order of magnitude less than the wild-type
Mice show behavioral abnormalities including a clasping abnormality of their hind limbs and a habituation deficit (PubMed:23760501). Knockout mice are protected against high fat diet-induced obesity and glucose intolerance (PubMed:25295788, PubMed:31150623). Mice show decreased palmitoyl (C16:0) ceramide pools and increased energy expenditure (PubMed:25295788, PubMed:31150623). Conditional deletion in brown adipose tissue or liver also protects mice against high fat diet-induced obesity, while it is not the case with specific deletion in myeloid cells (PubMed:25295788)
In both sexes RNA-mediated knockdown results in decreased day- and night-time sleep due to reduced sleep-bout duration. The number of sleep-bouts is not affected
No visible phenotype under normal growth conditions, but leaves of mutant plants exhibit a severly increased cell death when exposed to fumonisin B1 or a bacterial pathogen that triggers the defensive hypersensitive cell death. The double mutants cyclase1 and cyclase2 are embryonic lethal
Impairs the biosynthesis of calidodehydroaustin and accumulates the intermediate compound 3,5-dimethylorsellinic acid
Deficient mice appear to develop normally, are viable and fertile, and do not have any major pathological phenotypes (PubMed:11839819). In adulthood, 20 months after birth, mice display progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium (PubMed:19409519)
Deficient mice exhibit premature death, decreased body weight and respiratory distress associated with pulmonary alveolar proteinosis
Cells lacking this gene grow normally in minimal medium in the absence of supplements and have a wild-type pattern of lipoylated proteins. However, a double mutant strain lacking both lplJ and lipM is unable to grow in minimal medium either in the presence or in the absence of lipoic acid, indicating that LplJ is the sole B.subtilis lipoic acid salvage enzyme
Cells lacking this gene are unable to utilize putrescine as the sole source of carbon and nitrogen
Recessive female sterility with no effects on zygotic viability. Some strong alleles (WQ41 and WM40) also lead to male sterility
Cells lacking this gene do not synthesize PGA
Knockout mice are viable and manifest no substantial differences in body weight, testis weight or size, sperm count, or testicular histology. Although Kastor-deficient male mice are fertile, the number of pups produced by wild-type females after breeding with the mutant males is significantly reduced compared with that for wild-type males. The loss of Kastor induced a a nonuniform size of mitochondria and abnormal bending in spermatozoa
Knockout mice are viable and manifest no substantial differences in body weight, testis weight or size, sperm count, or testicular histology. Although Polluks-deficient male mice are fertile, the number of pups produced by wild-type females after breeding with the mutant males is significantly reduced compared with that for wild-type males. The loss of Polluks results in irregular elongation and flattening of mitochondria without abnormal bending in spermatozoa
Mutant shows different biofilm kinetics, reaching maximal biofilm formation earlier than wild type. Mutation does not affect the capacity to colonize the plant root
Mutant mice exhibit defects in colonic mucosal wound repair
Embryonic lethality due to abnormal suspensor development
Mice develop spontaneous, late-onset cancer. Moreover, tumor incidence in mice heterozygous for a p53/Tp53 mutation in higher in a Hace1-deficient background
Flies exhibit severe segmentation defects, including loss and/or fusion of abdominal denticle belts and stripe-specific defects in pair-rule and segment polarity gene expression. Mutant embryos also exhibit loss of specific neurons, fusion of adjacent ventral nerve cord ganglia and aberrant axon scaffold organization
Worms exhibit the absence of AVM, PVM, and PLM touch cells, defective egg laying, embryonic or larval lethality, cell degeneration, malformation of the posterior body, and uncoordinated movement
Lethal phenotype at the seedling cotyledon stage, with disorganized veins, swollen root hairs, and altered epidermal cell morphology
Leads to the loss of T-Toxin production, resulting in low virulence for maize (PubMed:16529376)
No visible phenotype and no change in the levels of 13-OH GAs; due to the redundancy with CYP714B1. Cyp714b1 and cyp714b2 double mutants have decreased levels of 13-OH GAs, increased levels of 13-H GAs, including GA4, and longer uppermost internode
Mutant mice die shortly after birth
RNAi-mediated knockdown results in defects in nuclear export resulting in accumulation of RpS2 and pre-40S ribosome in the nucleus (PubMed:25858587). During oogenesis, mislocalizes Nup358-containing granules to nurse cells and abolishes the formation of annulate lamellae (PubMed:31626769)
Results in loss of the avirulence phenotype on soybean cultivar containing the resistance protein Rps1k
Death at birth due to defects in neural tube closure causing exencephaly, acrania, facial clefting and spina bifida
Morpholino knockdown of the protein causes delayed epiboly and deformities of the head, eye, heart and tail
Knockout mutants are sensitive to AZT
Strains lacking this gene show undetectable levels of bacteriorhodopsin, retinal, and beta-carotene and accumulation of lycopene to high levels
Mutant produces altered S-LPS
Blocks the expression of the elsinochrome cluster genes RDT1, PKS1, PRF1 and HP1, and impairs the production of elsinochrome
Embryo lethality
Impairs the production of ascofuranone and leads to the accumulation of the product of ascH
RNAi-mediated knockdown in a ced-3 and ain-1 double mutant background reduces the percentage of animals with developmental defects including impaired egg-laying and production of ectopic seam cells. RNAi-mediated knockdown results in the precocious onset of tail tip retraction at the L3 larval stage resulting in over-retracted and shortened adult male tails (also known as the Ore phenotype) (PubMed:26811380, PubMed:30956008). RNAi-mediated knockdown suppresses the male tail tip morphogenesis defects of mutants for the long non-coding RNA lep-5 (PubMed:30956008)
When combined with a yraA disruption shows significantly reduced growth in the presence of formaldehye and methylglyoxal
Tagging the C-terminus of this protein with a fluroscent tag completely disrupts carboxysome formation
Produces supersized LDs that are up to 50 times the volume of those in wild-type cells
Flat, serrated, blue-green and ovoid leaves
No visible phenotype. Mice display increased susceptibility to carcinogens
Homozygous mice lacking Slc31a1 exhibit profound growth and developmental defects and die in utero in mid-gestation (PubMed:11391005, PubMed:11391004). Homozygous embryos exhibit a dramatic reduction in size at E7.5, which is exacerbated during the progression of in utero development through day E10.5 (PubMed:11391005). Although the fundamental mouse embryonic structures are conserved at E7.5, homozygous embryos show that many structures including the neural ectoderm and mesoderm cell layers are poorly developed (PubMed:11391005). Conditionnal knockout mice lacking Slc31a1 in intestinal epithelial cells, are born at the expected frequency and exhibit normal growth rate and mass for the first 6-8 days postpartum, poor growth and lethality occurred beginning approximately 10 days after birth (PubMed:16950140). Conditionnal knockout mice lacking Slc31a1 in germ cells (GCs) seem normal in appearance (PubMed:31002737). Conditionnal knockout mice lacking Slc31a1 in Sertoli cells (SCs) exhibit normal fertility and display similar appearance as their wild-type littermates; no obvious behavioral deficit are noted (PubMed:31002737)
Deficient mice exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells
Fails to develop blast disease on the rice host but does not affect vegetative growth, asexual development and appressorium formation (PubMed:26258762). Significantly reduces the host penetration ability (PubMed:26258762). Leads to the accumulation of a methylated form of jasmonate (MeJA) resulting in a strong induction of the host defense response in an otherwise susceptible rice plant (PubMed:26258762). Does not affect the ability to cause blast disease in barley (PubMed:26258762)
Null mice are smaller than wild type and are erythematous with some animals having evidence of retroperitoneal hemorrhage. The resulting polycythemia can cause thrombosis and cardiac failure and animals die off after 10 weeks. Erythropoietin levels are increased in kidneys but not in livers. In neonatal null mice exposed to 75% oxygen, there are high levels of HIF1A nuclear abundance in retinal tissues accompanied by well-preserved retinal microvessels compared to wild type where oxygen-treated retinas exhibit reverse effects with increased risks of retinopathy
Double RFTN1 and RFTN2 mutant mice show no visible phenotype under pathogen-free conditions but show greatly reduced interferon beta production in splenic dendritic cells under poly(I:C) or lipopolysaccharide stimulation
Mutant shows an impaired export/assembly of the fimbrial subunit PilA, and accumulates this protein in the membrane fraction (PubMed:8973346). In addition, loss of PilF expression abolishes multimerization of PilQ (PubMed:18776008)
Deletion affects endospore formation and germination
Loss of nectar secretion accompanied by starch accumulation in nectaries
No visible phenotype during normal growth or under oxidative stress caused by diamide
Cells lacking this gene are not able to produce glycosylated macrolides
Death early in embryogenesis. Embryos show a severely altered autophagic response, whereas their apoptotic response to serum withdrawal or UV light is normal (PubMed:14657337). Accelerated neurodegeneration (conditional knockout in cerebellar Purkinje cells)
RNAi-mediated knockdown results in partial sensitivity to Cu(2+) ions with only 60% of animals reaching adulthood 4 days after egg laying
Mice are viable but display growth retardation and haematologic abnormalities (PubMed:20562862). Male are sterile (PubMed:20562862). Exhibit hyperglycosylation of cellular glycoproteins (PubMed:25354954)
Pigment defective seeds (PubMed:21139083). Virescent/yellow leaves leading to pale-green seedlings, due to reduced photosynthetic function and disruption of associated signaling networks, later associated with impaired photoautotrophy (PubMed:24053212, PubMed:27462450, PubMed:30962391). Abnormal chloroplast development with disrupted granum-stroma thylakoid membranes and disrupted photosynthetic electron flow (PubMed:27462450). Reduced accumulation of rbcL mRNA and less production of Rubisco large subunit (LSU) (PubMed:24053212). Impaired biogenesis of NDH, PSI (including PsaA, PsaB, PsaD, PsaF, PsaL, PsaG, PsaK and NdhH) and Cytb(6)f (including PetA, PetB, PetC and PetD) complexes; this phenotypes are reversed by Ycf1 overexpression (PubMed:27462450, PubMed:30962391). Inhibited induction of non-photochemical quenching (NPQ) (PubMed:27462450). Structural changes to target RNAs (PubMed:30962391)
Mice are infertile because of a severe sperm-motility defect
Mice are born at the expected Mendelian rate and appear grossly normal and healthy. Females are fertile, but males are almost completely sterile, in spite of normal mating behavior (PubMed:12110578, PubMed:15161660). Two independent studies conclude that male sterility is due to impaired acrosome reaction, but describe contradictory effects on spermatogenesis, possibly due to the use of different mouse strains (PubMed:12110578, PubMed:15161660). Spermatogenesis is normal, with normal sperm counts, normal sperm motility, and no malformation of the sperm head or tail (PubMed:15161660). Late stages of spermiogenesis are impaired, leading to reduced numbers of mature spermatozoa in seminiferous tubules; mutant sperm present morphological abnormalities of the flagellum and sperm head, and decreased motility (PubMed:12110578). Mutant sperm are able to fertilize oocytes in vitro, but many of the resulting embryos die before the morula stage (PubMed:15161660). Mutant sperm cells have elevated levels of DNA damage and DNA strand breaks, and this may be the cause for embryonic lethality (PubMed:15161660). Mice deficient for both Prnd and Prnp have the same phenotype as mice lacking Prnd; they are born at the expected Mendelian rate and appear grossly normal and healthy (PubMed:15161660, PubMed:15007175). Females are fertile, but males deficient for both Prnd and Prnp are sterile, in spite of normal mating behavior (PubMed:15161660, PubMed:15007175). Again, findings about spermatogenesis are contradictory: spermatogenesis is normal, with normal sperm counts, normal sperm motility, and no malformation of the sperm head or tail (PubMed:15161660). Sperm cells display various malformations (PubMed:15007175). Male sterility is due to impaired acrosome reaction (PubMed:15161660). Mutant sperm are able to fertilize oocytes in vitro, but many of the resulting embryos die before the morula stage (PubMed:15161660). Mutant sperm cells have elevated levels of DNA damage and DNA strand breaks, and this may be the cause for embryonic lethality (PubMed:15161660). Aging mice deficient for both Prnd and Prnp do not display loss of cerebellar Purkinje cells or develop ataxia, and do not develop neurological defects (PubMed:15007175)
Abolishes the formation of phomopsin A and leads to the accumulation an internmediate with no modified Pro moiety
Sensitive to various stresses including heat, sodium dodecyl sulfate and calcineurin inhibitor tacrolimus (PubMed:27611567). Resistant to tunicamycin-induced ER stress (PubMed:27611567). Simultaneous disruption of CRZ1 enhances thermosensitivity and decreases virulence in a mouse intranasal inhalation model for pulmonary infection (PubMed:27611567)
Reduced H3K27me3 level but increased levels of histone H3 acetylation and H3K4me3 on FLC in the fve msi5 double mutant
Increased number of wrinkled seeds (PubMed:21896764). Hypermethylation of cytosine residues in the DNA sequence of Tos17 retrotransposons (PubMed:21896764)
No visible phenotype until 7 weeks of age. Animals are viable and fertile. After 7 weeks, mutant mice exhibit a modest decrease in body weight and decreased adiposity, compared to wild-type animals, despite increased food consumption. They tend to show a reduced hepatic fatty acyl-CoA thioesterase activity, leading to alterations in fatty acid metabolism and improved glucose homeostasis. When fed a high-fat diet, mutant livers are protected against steatosis and increased hepatic glucose production (PubMed:22345407). Mutant mice adapt more rapidly than wild-type to short-term cold exposure by increasing physical activity, food consumption and energy expenditure. After 96-hour equilibration at cold temperature, genotype-dependent differences are abolished. Mutant brown adipose tissue show reduced lipid droplets, alterations in the ultrastructure of mitochondria and a small increase in the expression of thermogenic genes (PubMed:24072708)
Plants fail to initiate axillary meristems and do not form lateral shoots during vegetative development
Retarded growth and photobleaching phenotype (PubMed:18003861, PubMed:24585838). Enhanced resistance to the bacterial pathogen Pseudomonas syringae pv. tomato (PubMed:18003861)
Mutant mice with endothelial-specific inactivation of Scube2 show normal vasculogenesis and angiogenesis during embryonic development, but impaired response to exogenous VEGF, and impaired response of the endothelium to revascularization after ischemia induced by femoral artery ligation in adult (PubMed:27834687)
Mice are highly sensitive to intestinal inflammation induced by dextran sulfate sodium (DSS), due to the presence of bacteria in the inner mucus layer. Mice are healthy when raised in a specific-pathogen-free environment, in which bacterial contamination was strictly controlled
Pale-green leaf phenotype due to reduced chlorophyll content
Minor effect on jasmonic acid response and no effect on glucosinolate biosynthesis. Myc2 and myc3 double mutant has an increased insensitivity to jasmonic acid. Myc2, myc3 and myc4 triple mutant has no jasmonate-related defense response, is devoid of glucosinolates and is extremely susceptible to generalist herbivores
Deficient mice exhibit postnatal lethality and defects in stratified epithelia
Pab2 and pab4 double mutants, as well as pab2 and pab8 double mutants show significant growth and development defects and more resistance to Turnip mosaic virus (TuMV)
53% of mutants die during embryogenesis with the remainder dying during larval and pupal development. In embryos the rate of dorsal closure is reduced and complete closure is delayed until after stage 16. During dorsal closure, filopodia are normal but the actomyosin cable is reduced and the leading edge cells have an irregular morphology. After dorsal closure, a very small percentage of embryos display a small anterior hole in their cuticle. Reduced phosphorylation of arm
Does not affect the ability to produce 1233A and 1233B but leads to increased sensitivity to 1233A
Completely abolishes the production of radicicol (PubMed:19101477)
Mutant mice are viable and fertile, and display increased glucose tolerance (PubMed:17327425, PubMed:17068142, PubMed:17268472, PubMed:24742672). On a high fat diet, they have lower fasting insulin levels than wild-type (PubMed:17327425, PubMed:24742672). Mutant mice have lower plasma cholesterol levels on a high fat diet, and possibly also on normal chow (PubMed:17327425, PubMed:17068142). The precise phenotype may depend on the experimental details and on genotype. Male and female mutant mice are somewhat leaner than wild-type on standard chow and do not display increased weight gain on a high fat diet (PubMed:17327425, PubMed:24742672). Mutant mice have normal body weight on standard chow, but decreased weight gain on a high-fat diet (PubMed:17068142). Female mutant mice display lower total body fat than wild-type on a high fat diet (PubMed:17327425). Both male and female mice have reduced levels of white and brown adipose tissue relative to wild-type (PubMed:17327425). Mutant male mice display decreased testis weight, atrophy of the seminiferous tubules and aspermia (PubMed:17327425). Both male and female mice display increased brain weight relative to wild-type (PubMed:17327425). Mutant mice have increased locomotor activity and increased energy expenditure on a high fat diet (PubMed:17327425). Mutant mice display impaired revascularization, limb retraction, atrophy and necrosis in response to limb ischemia caused by severing the femoral artery (PubMed:24742672). Hepatocytes from mice lacking both Adipor1 and Adipor2 show loss of adiponectin binding and lack of adiponectin-mediated activation of AMPK and Ppara (PubMed:17268472). Mice lacking both Adipor1 and Adipor2 display elevated glucose and insulin levels in blood plasma, indicative of glucose intolerance and insulin resistance (PubMed:17268472)
Mice with an insertion of a cardiac-specific epoxygenase transgene into an intron in the Rfx4 locus develop head swelling and rapid neurological decline in young adulthood, and have marked hydrocephalus of the lateral and third ventricles. Interruption of two alleles results in profound failure of dorsal midline brain structure formation and perinatal death. Interruption of a single allele prevents formation of the subcommissural organ, a structure important for cerebrospinal fluid flow through the aqueduct of Sylvius and results in congenital hydrocephalus
No visible phenotype, under normal growth conditions
Cells lacking this gene appear to metabolize cholesterol normally, probably due to the ability of Cyp142 to compensate for loss of Cyp125
Deletion abolishes cellulose production
No visible phenotype (PubMed:21265895, PubMed:25829440). Roots of the triple mutant jkd mgp nuc contain patches of undivided ground tissue (GT), indicating that cortex and endodermis layers are not fully separated. The quadruple mutant line jkd mgp nuc scr has short root meristems, lacks endodermis and miss Casparian strip (PubMed:25829440)
Sexually dimorphic effect. Homozygous null mutant female mice exhibit obesity that results from hyperphagia and reduced energy expenditure. Hyperphagia leads to peripheral insulin resistance. Insulin action is normal in liver but is compromised in skeletal muscle; the mice have incomplete fatty acid oxidation and impaired glucose uptake and disposal. Hyperphagia appears to result partly from increased hyperinsulinemia-induced hypothalamic fatty acid synthase levels and activity. Hyperinsulinemia is caused by increased insulin secretion. Homozygous null mutant male mice show total fat mass reduction, which ows to the hypermetabolic state despite hyperphagia. They also exhibit insulin sensitivity with elevated beta-oxidation in skeletal muscle, which is likely to offset the effects of increased food intake. Both males and females have increased brown adipogenesis. However, only males have increased activation of sympathetic tone regulation of adipose tissue and increased spontaneous activity
Enhances the toxicity of heterologously expressed alpha-synuclein
Disruption mutant retains membrane-bound NADH dehydrogenase activity and shows no obvious growth defects. Mutations at two sites, one in ndh and one in nuo locus, remove the NADH oxidase activity from E.coli membranes (PubMed:8387992). The ndh deficient strain is more sensitive than the wild-type to Cu(II)/tert-butyl hydroperoxide (t-BOOH). Furthermore, several ndh deficient mutants grew less well than the corresponding parental strains in media containing either high or low copper concentrations (PubMed:16759635). The Cu(II)-reduction rate of the cell decreases by about 10% in the absence of NDH-2 and by about 85% in a strain lacking both NDH-2 and quinones (PubMed:21390523)
Heterozygous Dll1 mice mutants are lighter and smaller, with altered fat to lean ratio and have increased blood pressure and a slight bradycardia. The animals have reduced cholesterol and triglyceride levels in blood (PubMed:19562077). Heterozygous Dll1 mice mutants and hypomorphic Dll1 mice mutants survive until birth, despite significantly reduced Notch activity (PubMed:17194759). Conditional knockout in inner ear leads to an early and excessive production of hair cells and have vestibular defects (PubMed:16495313). Conditional knockout in a small proportion of neural precursor cells reduces neurogenesis, whereas conditional knockout in a large proportion promotes premature neurogenesis (PubMed:18997111). Hypomorph Dll1 pups mutant survive until birth but are smaller. Conditional knockout Dll1 mice mutant in epidermis, survive and have no gross abnormalities (PubMed:17960184). Hypomorph Dll1 mice mutant survive until birth and have severe skeletal muscle defects (PubMed:19144989). Heterozygous Dll1 mutant embryos show disrupted muscle growth (PubMed:25220152). Conditional knockout Dll1 mice mutant show disorganization of Bergmann fibers, ectopic localization of Bergmann glia in the molecular layer and a reduction in the number of Bergmann glia (PubMed:23688253)
Plants show a hypersensitive hypocotyl growth response to both red and blue light
Slow grain-filling resulting in reduced weight of grains containinf loosely packed starch granules and reduced levels of amylose and amylopectin
Increased expression of some target genes (e.g. TOP1A, EFS, MBD9, NUP160, DEK1, BIG, HB-1 and CMT3), but reduced expression of other target genes (e.g. HKL1 and PDS5) (PubMed:25387881). Increased salt stress tolerance leading to a better seed germination in high salt conditions (PubMed:25387881)
Mutations alter both cytochrome aa3 formation and sporulation
Plants have no hairs on primary roots and have an extreme dwarf and seedling lethal phenotype
Disruption mutant does not have GS-hydroquinone lyase activity, is more sensitive to PCP toxicity and has a significantly decreased PCP degradation rate
Increment in the number of lateral roots, and moderate increase in the length of the primary root (PubMed:17369372). Reduced performance of green peach aphid (Myzus persicae) on foliage (PubMed:22474183). Enhanced disease resistance to the fungal pathogen Fusarium graminearum (PubMed:26075826). The double mutant plants lox1 and lox5 exhibit enhanced susceptibility to the bacterial pathogen Pseudomonas syringae pv tomato DC3000 and the biotrophic powdery mildew pathogen Golovinomyces cichoracearum (PubMed:26417008)
Knockout embryos die before preimplantation
Grows at 85 degrees Celsius with a slightly longer lag phase, but is unable to grow at 93 degrees Celsius
Essential. Leads to loss of translocation of lipoproteins Lpp and BRP
Perinatal mortality associated with severe disruption of the cytoarchitecture of the brain cortex as a result of defects in neuronal migration and cohesiveness, and degenerative changes in large neurons of the brain stem, such as motor neurons in the lower cranial nerve nuclei and spinal cord. Disruption of lamination in the cerebral cortex, hippocampus, and cerebellum. Hypomyelination caused by impaired differentiation of oligodendrocytes
Fibrillar structures absent from spore coat (PubMed:33375328). Increased rate of spore wall collapse during germination (PubMed:33375328). Spores sensitive to thermal stress, ethanol, and cell wall degrading enzymes (PubMed:24623719). Normal rate of spore formation resulting in spores of a normal size (PubMed:24623719)
In embryos, during S phase of mid-blastula transition, fails to delay the activation of Cdk1, leads to loss of Rif1 foci, and results in cells entering prematurely into mitosis 13 before the completion of replication resulting in chromosome bridging
Impaired osmotic Ca(2+) signaling in guard cells and root cells, and attenuated water transpiration regulation and root growth in response to osmotic stress
Cells gene grow very poorly on M65 minimal medium containing acetate but normally on rich medium (LB)
nullDeltion mutant mice die shortly after birth and display developmental defects in kidney, eye, skull, ribcage, and hind limbs. They also show defects in the development of the axial skeleton from the skull to the tail and the ossification of bones
RNAi-mediated knockdown in the procyclic form causes growth arrest
RNAi-mediated knockdown results in increased sensitivity and reduced survival in response to oxidative stress inducers cumene hydroperoxide, jugalone, paraquat and arsenite, and to heat shock treatment
Deletion mutant does not respond to vanillate and shows reduced responses to 4-HBA, benzoate, protocatechuate and vanillin
No visible phenotype in adults at room temperature, but flies rapidly loose coordination and become paralyzed within three minutes at 38 degrees Celsius (PubMed:14980202). Larvae display overgrowth of neuromuscular junctions, with increased numbers of synaptic boutons and increased frequency and complexity of axon branching (PubMed:14980202, PubMed:18701694, PubMed:18498733, PubMed:21464232, PubMed:26686642, PubMed:29568072). The synaptic area and the number of reserve and readily releasable synaptic vesicles are decreased (PubMed:29568072)
Defect in pollen adhesion to the stigma resulting in male sterility under normal growth conditions
RNAi-mediated knockdown results in gonadal defects including smaller, narrower gonads and reduced fertility with either no oocytes or no fertilized eggs in the majority of animals (PubMed:21464306). RNAi-mediated knockdown results in an increase in the expression of gpdh-1 independent of hypertonic stress (PubMed:23076791)
Abolishes the production of asperiene C, asperiene A, calidoustene A, (6-Strobilactone-B) ester of (E,E)-6-carbonyl-7-hydroxy-2,4-octadienoic acid, ustusolate C, ustusolide E and calidoustene B (PubMed:34468074). Still produces ustusoic acid A, ustusolate A, (2'E,4'E)-6-(1'-carboxyhexa-2',4',-diene)-9-hydroxy-drim-7-ene-11,12-olide, calidoustene C and RES-1149-2, all compounds with fully unsaturated acyl chains (PubMed:34468074)
RNAi-mediated knockdown results in larval lethality in 50 percent of the animals (PubMed:19737560, PubMed:19605499). Surviving knockdown animals have several defects including a slower growth and a partial distortion of the pharynx. In surviving L3 animals seam cells are 30 percent smaller (PubMed:19737560)
Knockout mice are viable with normal gross morphology (PubMed:21219924). Cone photoreceptors are normal and provide a normal flash response, however cone cells in the ventral retina have thin or undetectable outer segments that exhibit mild to severe disordered organization (PubMed:21219924, PubMed:25416279). Cone cells show increased sensitivity to mid-wavelength light, potentially as result of increased protein Opn1mw abundance (PubMed:21219924). Lrat and Opn1sw double knockout mice show no change in cone cell viability in the central and ventral retina, however show shorter and swollen outer and inner segments at twelve months of age (PubMed:25416279). Double knockout of Lrat and Opn1sw results in a reduction in the slow degeneration of dorsal cone photoreceptors compared to Lrat knockout mice (PubMed:25416279). Lrat and Opn1sw double knockout mice show a reduced abundance of transmembrane and peripheral membrane-associated proteins in cone inner and outer segments (PubMed:25416279)
Strains missing this gene do not produce hydrogenase or urease; addition of Ni(2+) to cell cultures compensates only poorly for this loss of function. Normal amounts of apo-urease are produced by the cells
Growth rate decreased at 37 and 25 degrees Celsius, slightly slower and to lower optical density at 3 degrees Celsius. No effect on motility at 25 or 3 degrees Celsius (PubMed:22564273)
Partially lethal. Survivors turn pale green and show a stunted growth. Affected in photosynthesis; difference in the quantum efficiency of PS11
No visible phenotype under normal growth condition, but resistance to hypostatin treatment
Cells lacking this gene require menaquinone-4 (MK 4) for their growth
Cells lacking this gene show a growth-defective phenotype under copper deprivation as well as a reduced intracellular content of copper
Short root length. Impaired cell division in the root meristem
Male mice exhibit decreased fertility and produce reduced epididymal sperm content, but do not influence the rates of motility, capacitation and acrosome reaction of sperm (PubMed:24557841). Meiosis-arrested spermatocytes are increased in the early stages of meiosis and undergo programmed cell death (PubMed:24557841). Display a diminution of the HSPA2 signal at the spindle and disordered chromosomes during male meiosis (PubMed:24557841)
Leads to lethality in absence of CDC28
Mice are viable, fertile and healthy, and show normal lymphocyte development. However, their T- and B-cells are hyperresponsive to stimulation via TCR or BCR
Defective sperm formation, resulting in substantially reduced male fertility (PubMed:34825148, PubMed:36517592). Male mice show smaller testis sizes, lower testis/body weight ratio, increased ratios of abnormal sperm head and tail and severe subfertility with significantly fewer cumulative live pups born compared with wild-type mice (PubMed:36517592). The sperm count, motility and progressive motility are reduced (PubMed:36517592). Female mice display normal fertility (PubMed:36517592)
No visible phenotype (PubMed:17376159). Clpc1 and clpc2 double mutants are embryo lethal when homozygous (PubMed:17376159)
No visible phenotype, but decreased heme content in roots
Cells lacking this gene are unable to accumulate propionyl-CoA
Mice are born at the expected Mendelian rate; they show no obvious phenotype and are fertile. Mutant mice show decreased analgesia in response to opioids, such as deltorphin-2. They do not develop analgesic tolerance to morphine
Inactivation of this gene causes a delay in sporulation, but does not affect cell growth and the production of extracellular enzymes
Partially blind to far-red (FR). Impaired inhibition of hypocotyl elongation and cotyledons expansion under continuous FR light conditions
Deletion of dmlA inhibits aerobic growth on D-malate but does not impair slow anaerobic growth on D-malate
RNAi-mediated knockdown results in embryonic lethality. RNAi-mediated knockdown results in delayed cell cycle progression (PubMed:25446273). RNAi-mediated knockdown inhibits expression of hsp-6 when adults are exposed to conditions causing mitochondrial stress (PubMed:32934238). Reduces the dve-1 protein level (PubMed:32934238)
No visible phenotype; due to the redundancy with CYP714A2. Cyp714a1 and cyp714a2 double mutants flower earlier and have an increased plant size and biomass
Mice lacking Myoc are viable, fertile and show no significant differences in intraocular pressure or clinical signs of glaucoma. They also show a reduction in cortical bone thickness as well as trabecular volume
No differences in hypocotyl length when grown in complete darkness, but longer hypocotyls in plants under continuous white or red light (PubMed:23818596). Lengthened circadian cycle (PubMed:25012192)
No visible phenotype (PubMed:21266658, PubMed:25921872). Clpt1 and clpt2 double mutants show delayed development, reduced plant growth, and virescent, serrated leaves (PubMed:25921872). Clpt1 and clpt2 double mutants are seedling lethal under autotrophic conditions (PubMed:21266658)
Animals with a double knockout of APOE and TLR6, fed a Western diet for 12 weeks, have less aortic plaque formation than single APOE knockout mice. They also show lower serum concentrations of IL1A, ILB and IL18
Viable and fertile however, adults and larvae display an increase in body size and tissue growth as a result of increased cell number (PubMed:27702999). Overgrowth is due to an up-regulation in insulin-like signaling both systematically and in the fat body, which in turn results in the down-regulation of insulin-like peptide (ILP) inhibitors, conv and ImpL2, and thus allows increased activity of the ILPs (PubMed:27702999). RNAi-mediated knockdown in the fat body results in an increase in pupal length, adult body weight and posterior wing area (PubMed:27702999)
Cells lacking this gene have no acetoin reductase/2,3-butanediol dehydrogenase activity
Deletion of yjjPB decreases succinate production in E.coli by 70% under anaerobic conditions
RNAi-mediated knockdown enhances tail tip morphogenesis resulting in retention of the pointed larval tail tip in adult males (also known as the Lep phenotype) of sma-3 e491 mutants
Flies display impaired action potential propagation and neurotransmitter release at neuromuscular junctions, but are still capable of transporting certain membranes, including synaptic vesicles, to the nerve terminal
Defects in the differentiation of paraxial mesoderm. Irregular somites formed in the neck region of mutant embryos, whereas more posterior paraxial tissue did not form somites but instead differentiated along a neural pathway, forming neural-tube-like structures that flanked the axial neural tube. These paraxial tubes showed dorsal/ventral patterning that is characteristic of the neural tube and had differentiated motor neurons. Embryos lacking TBX6 show also randomization of the direction of heart looping and independent alterations in the direction of embryo turning
Longer lag phase at 20 degrees Celsius, wild-type growth rate at 30 degrees Celsius, impaired growth at 10 degrees Celsius. At 12 degrees Celsius cells form very long filaments, with incompletely divided, thickened internal membranes. Effects on growth at reduced temperature are partially complemented by cshA, suggesting the 2 genes have a partially redundant function. Decreased growth in the presence of H(2)O(2) and diamide
Mutant accumulates GlcN-Mal and does not produce BSH
Male mice lacking Tssk1b and Tssk2 are sterile due to haploinsufficiency. chimeras show failure to form elongated spermatids, apoptosis of spermatocytes and spermatids, and the appearance of numerous round cells in the epididymal lumen. Elongating spermatids possess a collapsed mitochondrial sheath
RNAi-mediated knockdown results in reduced survival in response to infection by E.faecalis
Deletion mutants do not show any influence of the antiviral T-cell response. However, TREM1 deficiency impairs secretion of CCL2 and TNF-alpha by neutrophils in response to viruses (PubMed:27328755). TREM-1/3-deficient animals have decreased neutrophils in the airway and these neutrophils have a defect in transepithelial migration (PubMed:23241959)
Decreases the production of chaetoglobosin A
No visible phenotype under normal growth conditions, but mutant plants exhibit impaired growth, leaf chlorosis and reduced iron concentration in shoots, when grown under iron deficiency conditions
Disruption of the gene results in a complete loss of ribose 1,5-bisphosphate generation from guanosine
Deletion of the pasT-pasI operon causes reduced infection of the mouse kidney but not of the bladder. On rich medium operon deletion decreases bacterial persistence about 100-fold. Forms small colonies on rich medium. Delays growth on minimal medium supplemented with threonine, increased sensitivity to oxidative and nitrosative stress. Growth defects are complemented by low levels of PasT expression
Slight reduction in plant growth. Constitutive expression of pathogenesis-related genes and enhanced resistance to the bacterial pathogen P.syringae pv. tomato
No visible phenotype under normal growth conditions, but plants accumulate high levels of trehalose and starch
The viability of homozygous knockout embryos is dramatically decreased after 10.0 dpc. Surviving animals have a normal life expectancy, but males are infertile. Ovalbumin sensitization and challenge of heterozygous mice results in a significant increase in pulmonary inflammation, mucous cell metaplasia, airway hyperresponsiveness and ovalbumin-specific IgE compared with wild-type animals. This exacerbation is associated with an increase in CD4(+) IL13(+) T helper cells, as well as an increase IL4, IL5 and IL13 cytokine production in lungs. Sensitized and/or challenged mutant animals show an increased lung epithelial permeability and activation of pro-inflammatory dendritic cells. At 6-7 months of age, about 30% of heterozygous mice develop skin lesions, with significant thickening of the epidermis, including the cornified layer, predominately on the ears and back. Lesions are accompanied by vigorous scratching. In the lesions, IL4, IL5 and IL13 cytokine production is increased and serum IgE levels are up-regulated at the time of appearance of skin lesions
Lipid A retains the 4'-phosphate group (giving bi-phosphorylated lipid A) and a 3'-hydroxyacyl chain not usually seen in wild-type cells. Cells grow more slowly in liquid culture and are more sensitive to the CAMP polymyxin B. Bacteria are avirulent upon infection of C57BL/6 mice, the natural host of this bacterium; they do not colonize mouse spleen. Upon mouse intraperitoneal injection induces pro-inflammatory cytokine IL-6 and monocyte chemoattractant protein 1 and keratinocyte-derived chemokine, two potent chemoattractants; bacterial viability decreases about 100-fold
Increased expression of comK, increases transformation about 5-fold, decreases sporulation efficiency about 5-fold (PubMed:11849533). Increased excision of mobile element ICEBs1 (PubMed:21085634)
No visible phenotype, possibly because of the compensating effects of one or more of the other 3 paralogs (U2AF1, U2AF1L4, ZRSR2)
Impairs the production of T-2 toxin and results in 4,15-diacetoxyscirpenol (DAS) accumulation (PubMed:12620849)
Normal growth in standard conditions, but altered pollen surface structure with pollen grains adhering to each other
Strains lacking this gene do not have a detectable amount of LPG in their membrane lipids. They are also more susceptible to defensin and have a higher affinity for cationic peptides
Does not emit (E)-beta-caryophyllene, alpha-copaene and alpha-humulene
AHL27 and AHL29 double mutant exhibit a long hypocotyl phenotype in the light
Mice exhibit early embryonic lethality and defects in gastrulation accompanied by reduced methylation of 'Lys-27' of histone H3
Inactivation of this gene leads to the constitutive expression of the mannitol operon
Morpholino knockdown results in abnormal eye morphogenesis, small eye size, and reduced number of retinal ganglion cell projections to the tectum
Disruption of the gene reduces transformation rates by two orders of magnitude. Natural transformation is undetectable in the pilB-tfpB double mutant. The pilB-tfpB-pilT triple mutant produces no detectable T4P fibers
No visible phenotype under normal growth conditions, but the double mutants engase85A and engase85B accumulate very high level of free N-glycans carrying two GlcNAc at the reducing end, but their counterparts with a single GlcNAc are completely absent
Mice deficient in Gp6 show a complete protection against arterial thrombosis and induced pulmonary thromboembolism, without significant prolongation of bleeding time (PubMed:16139873). Mutant mice deficient in Gp6 and P3h2 are born at the expected Mendelian rate and have no visible phenotype (PubMed:24368846)
Altered vein pattern in cotyledons and primary leaves. Mutant seedlings show increased sensitivity to osmotic and salt stresses in roots
Male sterility due to failure of tapetum programmed cell death (PCD) and degeneration required for pollen maturation (PubMed:23519457). Male sterility due to delayed tapetal PCD and aborted pollen development (PubMed:23385589)
Results in the loss of butelonide production
Multiple aspects of auxin-related developmental defects in leaves, embryogenesis, cotyledons, silique phyllotaxy and lateral roots in addition to unflattened and small leaves associated with an altered genes expression profile (PubMed:29897620, PubMed:29184027). Altered morphology of the VPS29-associated late endosomes (PubMed:29897620). Enlarged multivesicular endosomes and reduced level of organelles enriched in PI3P, associated with abnormal trafficking of vacuolar cargo and its receptor VSR2 leading to erroneous cytoplasmic distributions of endocytic cargo (e.g PIN1 and PIN2) and seed storage proteins (SSPs) (PubMed:29184027). Slightly inhibited starvation-induced autophagy, but normal constitutive autophagy (PubMed:29184027)
RNAi-mediated knockdown has no effect on global lipase activity (PubMed:21906946). In a glp-1 (e2141) mutant background which lacks a germline, reduces the increase in both lipase activity and autophagy (PubMed:21906946)
Deletion does not abolish killing activity. However, triple mutant lacking tseL, vasX, and vgrG3 fails to kill Escherichia coli
Constant reversal of left/right polarity (situs inversus) and cyst formation in the kidneys
Defects in venation pattern in leaves and cotyledons, post-genital organ fusions in all aerial organs from organ primordia to young expanding organs and glaucous and rough leaf surface
Cells lacking this gene adhere to and invade human cell lines half as well as wild-type bacteria. They grow less well in human blood, perhaps because they are more resistant to phagocytosis
Lethal at the first instar larval stage (PubMed:27185460). RNAi-mediated knockdown in germ cells results in male sterility (PubMed:27035939)
Mutant shows an alkaline growth defect, reduced peptidoglycan quantity, accumulation of the peptidoglycan precursor UDP-N-acetylmuramyl pentapeptide (UDP-M5) and decreased cross-linking (PubMed:36450355). UndP recycling is impaired and mutant shows increased cell surface UndP levels (PubMed:36450355). Deletion of the gene increases sensitivity to the amphomycin derivative MX2401, which binds UndP in the outer leaflet of the cytoplasmic membrane and prevents its recycling (PubMed:36450357). Mutant is far more sensitive to amphomycin than the wild type in alkaline conditions, and is also moderately sensitized to tunicamycin and bacitracin (PubMed:36450355). The double mutant uptA-popT is growth-impaired and exhibits cell size variability, and 10% of the cells have membrane permeability defects, consistent with impaired envelope assembly (PubMed:36450357). The triple mutant lacking uptA, popT and SAOUHSC_00901 is not viable (PubMed:36450357)
Leads to abnormal cell wall composition, decreased ability of adhesion, and hypersensitivity to cell wall stresses. Increases mitochondrial activity and shows abnormal mitochondrial morphology. Results also in up-regulation of the expression of the cell wall integrity (CWI) genes PGA13 and CRH11, enhanded secretion, and decreased ability to invade HeLa cells
RNAi-mediated knockdown increases lifespan. Lifespan is further increased in an age-1 hx546, daf-2 e1370, clk-1 qm30 or eat-2 ad465 mutant background
Deletion of the gene results in a 100-fold reduction in transformation
Reduction in inflorescence height and pedicel length (PubMed:21668538). Delayed germination (PubMed:25655823)
Yields a delayed lung infection in mouse C57BL/6 or C3H infections, although bacterial burden remains wild-type (PubMed:12060776). Shows decreased bacterial burden 72 hours post-infection in rhesus monkey-derived macrophages and altered induction of host intercrine beta (chemokine CC) and apoptosis-related genes (PubMed:22235255)
No defect in erythrocyte asexual growth and gametocytogenesis (PubMed:19435497). No defect in the production of sporozoites in the mosquito vector (PubMed:19435497). In blood stage parasites, phosphorylation of eIF2alpha in response to amino-acid starvation is impaired (PubMed:19435497). During the asexual blood stage, increased in parasitemia induced by host melatonin is impaired (PubMed:32702775)
Mutant loses the ability to grow on resorcinol, but its ability to grow on hydroxyquinol is the same as that of the wild-type strain
Pre-synaptic vesicle and active zone proteins fail to be restricted to the axons of motor and sensory neurons. Synaptic vesicles fail to form tight clusters implying aberrant synaptic organization in addition to defects in neuronal polarity. Overexpression causes mislocalization of vesicle proteins to dendrites
Disruption of the gene decreases uptake of cystine (PubMed:25837721). The tcyL-tcyP double mutant cannot grow in the minimal medium containing L-cystine as a sole sulfur source is completely resistant to both L-selenaproline and L-selenocystine (PubMed:25837721, PubMed:25139244)
No visible phenotype. Mice were born at the expected Mendelian ratio and are normal. They however show very high levels of L-3-hydroxykynurenine compared to wild-type mice
The double mutant syp42 syp43 exhibits severe pleiotropic defects, including short roots, a large number of lateral roots, semi dwarfism and early senescence (PubMed:22307646). Plants lacking the three genes SYP41 SYP42 and SYP43 are seedling lethals (PubMed:22307646)
No visible phenotype, due to the redundancy with MRG2. Mrg1 and mrg2 double mutants are late-flowering under long-day growth conditions
Deletion causes a mild cell chaining phenotype (PubMed:19684127). Double dedD-drpB deletion mutants grow 1000-fold less well at 42 degrees Celsius and are filamentous when grown on LB, no effect is seen in low osmolarity medium; few septa are observed (PubMed:32900831)
Dilated endoplasmic reticulum, small and misshapen protein bodies, and opaque endosperm
Lethal at early larval stages
Stabilization of KRP6 and inhibition of germ cell cycle progression leading to male sterility
No visible phenotype. Puru1 and puru2 double mutant shows a 70-fold increase in Gly levels and accumulates elevated levels of 5- and 10-formyl THF. Embryo development arrests between heart and early bent cotyledon stages, and mature seeds are shriveled, accumulate low amounts of lipids, and fail to germinate. Puru1 and puru2 double mutant is only conditionally lethal and is rescued by growth under nonphotorespiratory conditions. Puru1, puru2 and fold1 triple mutant shows no photorespiratory phenotype
Unfertilized ovules, but normal pollen tube attraction
2-fold increased plasmid transformation efficiency
Impairs avoiding all nonvolatile repellents tested, ranging from quinine to denatonium, lobeline, caffeine, and N,N-Diethyl-meta-toluamide (DEET). Also displays increased male-to-male courtship
Leads to overproduction and excretion of inositol into the growth medium
No visible phenotype, due to the redundancy with RNR2B and TSO2. Rnr2a and rnr2b double mutants have no visible phenotype
Affects glycosylation of chitinase and increases sensitivity to calcofluor white and caffeine
Cells, starved for 8 hours, exhibited a decrease in motility and a severe chemotaxis defect toward a cAMP gradient. Aberrancy in chemotaxis was aggravated in the presence of a strong cAMP gradient. Cells also display defective cytoskeletal remodeling in response to chemoattractant stimulation. Cells are defective in aggregation and display multiple crown-like membranous protrusions, which were enriched not only in F-actin but also in myosin II. This aberrant structure, which was proposed to be less stable and unable to provide necessary traction force for cells to move, is believed to be the reason why cells are less motile than wild-type cells
Neonatal lethality. Skeletal development is severely impaired leading to reduced snout and body length, and extremely short limbs. The proliferating zone of epiphyseal cartilage is disorganized with densely packed round chondrocytes and little extracellular matrix, in contrast to the regular columnar organization of chondrocytes in wild type cartilage. Chondroitin sulfate content of cartilage is significantly reduced, associated with reduced proteoglycan aggregates in the extracellular matrix
Reduced amount and altered composition of seed coat mucilage
Mice show impaired dorsal forebrain development and insufficient closure of the posterior neuropore. Mice survive with holoprosencephaly (HPE) and spina bifida
Mice are normal but males show severe male subfertility. Mutant males display fragmented patterns of CatSper complex stripes in the tails of their sperm, leading to a reduction of calcium ions that pass through the channels to enter the cell. As consequence, the sperm tail is more rigid, preventing it from moving efficiently within the female. Mutant sperm are less able to penetrate the egg than normal sperm
Hypersensitivity to abscisic acid (ABA)
Alterations in germination and in dark-growth seedlings. Elevated level of Ins(1,4,5)P3 and InsP2 levels
RNAi-mediated knockdown causes about 5% embryonic lethality with 1-10% of hatching larvae displaying posterior morphological defects (PubMed:15892873, PubMed:15102704). Defective intercalation of dorsal hypodermis (PubMed:15102704). Simultaneous RNAi-mediated knockdown of tbx-8 causes at least 48% of embryos to fail to hatch and those that do display severe morphological defects and die as larvae (PubMed:15892873, PubMed:15102704). Simultaneous RNAi-mediated knockdown of tbx-8 abolishes muscle expression of vab-7 (PubMed:15102704). RNAi-mediated knockdown at the larval L1 stage causes a decrease in expression of lin-39 at the larval L3 stage (PubMed:24885717). Knockdown in L1 stage larvae, in a lin-39 mutant background, causes abnormal fusion of vulval precursor cells at larval stage L2 (PubMed:24885717)
Selective loss of CD8-alpha(+) classical dendritic cells (cDCs) and CD103(+) dendritic cells, without abnormalities in other hematopoietic cell types or architecture. Dendritic cells are defective in cross-presentation, and mice lack virus-specific CD8(+) T-cell responses to West Nile virus. Mice also show reduced priming of CD8 T-cells after pulmonary Sendai virus infection, with increased pulmonary inflammation. Mice are extremely susceptible to T.gondii infection, with decreased production of interleukin-12 (IL12) and interferon-gamma. In contrast, mice are more resistant to L.monocytogenes infection
Otoconia show a strongly reduced matrix-calcium
RNAi-mediated knockdown is semi-pupal lethal, with 50% of pupae dying at the late pupal stage or during eclosion (PubMed:16861233). Adults display impaired melanization at the site of septic infection (septic injury) using either Gram-negative or Gram-positive bacteria (PubMed:16256951, PubMed:16861233, PubMed:19071960). Reduced survival, PPO1 activity and induction of the antimicrobial peptide Drs following septic injury using the fungus B.bassiana (PubMed:16256951, PubMed:16861233). Septic injury with various bacteria reduces survival (L.monocytogenes, S.typhimurium and S.aureus) and in some cases decreases (E.faecelis) or increases bacterial growth (L.monocytogenes, S.typhimurium and B.cepacia). Aseptic injury reduces survival (PubMed:19071960). Aseptic wounding has no effect on survival (PubMed:22227521). Significant increase in survival after immune challenge with S.pneumoniae although there is no increase in melanization (PubMed:19071960). No effect on the survival following infection with various bacteria (E.coli, B.cepacia and E.faecelis) (PubMed:19071960). No induction of the antimicrobial peptides Drs and Dpt following infection with E.carotovora (PubMed:16861233)
Mutants form unusually long aerial hyphae that fail to initiate septation or chromosome segregation
Severely impairs hyphal growth with filaments both shorter and growing in a sinusoidal manner (PubMed:29020037). Results in a dramatic loss of disease causing ability on wheat leaves (PubMed:29020037)
Homozygous knockout mice are viable, fertile, develop normally and do not display overt phenotype (PubMed:31624291). However, they have metabolic signs of folate deficiency like the accumulation of formiminoglutamate (PubMed:31624291). Mice show reduced hepatic folate pools with a strong accumulation of (6S)-10-formyltetrahydrofolate and a significant drop in tetrahydrofolate levels (PubMed:31624291). This is associated with a strong decrease of glycine levels as well as levels of several glycine conjugates (PubMed:31624291)
RNAi-mediated knockdown is lethal. Most mutants fail to develop past the L3 larval stage, and the few pupal escapers do not develop to the late pupal stages. Mitochondrial DNA (mtDNA) copy number fails to increase during larval development and instead steadily decreases. Increase in broken mTDNA replication intermediates
In the mosquito midgut, the number of oocysts are reduced which is caused by a failure of ookinetes to migrate to and transverse midgut epithelium (PubMed:16430692, PubMed:16796674). Abnormal motility of ookinetes, characterized by frequent flexing, bending, twirling, pendular motions and a failure to disperse (PubMed:16796674). However, another study shows no defect in ookinete motility (PubMed:16430692). Development and morphology of ookinetes are normal (PubMed:16430692, PubMed:16796674). Sporozoite motility and infectivity are normal (PubMed:16430692, PubMed:16796674). When injected directly into the mosquito haemocoel, thus bypassing the requirement to transverse the midgut epithelium, ookinetes mature normally into oocysts (PubMed:16796674)
Deletion mutant is impaired in growth at all temperatures and is nonviable at 37 degrees Celsius. It is defective in the 3' processing of the 5.8S rRNA and accumulates a discrete species, 5.8S + 30, that is 3' extended by about 30 nucleotides. Deletion also causes an accumulation of 7S RNA and 5' ETS and increases the level of poly(A)+ mRNA
Animals are grossly normal, with no obvious changes in thymus, spleen or lymph nodes. In vitro, resident peritoneal macrophage cells show enhanced IL1B and IL18 release in response to inflammatory stimuli
Cells lacking this gene have an obligate requirement for diaminopimelic acid (DAP) and undergo lysis in environments deprived of DAP
No visible phenotype at birth. Between 2-3 weeks after birth, some lethality is observed, may be due to internal hemorrhaging mainly in brain and gastrointestinal tracts. Surviving mutants are fertile and smaller than their wild-type littermates. Deficiency alters hemostasis which is associated with a block in the formation of alpha-granules in megakaryocytes and abnormal platelet morphology. Mice also exhibit tremor, ataxic gate, tilted head, severe impairments in motor coordination and motor learning related to cerebellar functions. Mice show functional deregulation of adipose tissues, although the total fat mass is not affected. They express lower levels of C/EBP alpha in adipose tissue, have impaired glucose tolerance with high plasma insulin levels and plasma adiponectin levels are significantly lower. Upon genotoxic stress, skin and prostate show increased apoptosis
Impairs the production of the xanthones variecoxanthone A, emericellin, shamixanthone and epishamixanthone; and accumulates several upstream metabolites, including emodin, chrysophanol and monodictyphenone (PubMed:21351751)
Absence of cardiac and midgut visceral muscle, and defects in a subset of dorsal body wall muscles
No effect on alternative splicing, due to the redundancy with SCL33. Scl33 and scl30a double mutant shows altered splicing
No visible phenotype. Mice display an elevated bile acid pool and elevated excretion of bile acids, due to loss of normal regulation of CYP7A1, the rate-limiting enzyme in bile acid synthesis. When on a normal diet, mice are prone to develop increased levels of white adipose tissue, hyperlipidemia, hypercholesterolemia, glucose intolerance and insulin resistance. Mice lacking both FGFR3 and FGFR4 display pronounced dwarfism, and while their lungs appear normal at birth, they are completely blocked in alveogenesis and do not form secondary septae to delimit alveoli. These mice also show elevated serum levels of 1,25-dihydroxyvitamin D3 and reduced serum phosphorus levels
Decreases RNA level of genes involved in cell wall biogenesis, fatty acid degradation, and carbon utilization (PubMed:32391887). Ruptured membranes, degranulated rough endoplasmic reticulum, irregular and thin cell wall (PubMed:32391887). Abnormal mitochondrial morphology (PubMed:32391887). Decreases cell population viability (PubMed:32391887). Decreases virulence in a mouse inhalation infection model (PubMed:32391887)
Hypersensitivity to abscisic acid during germination, significant reduction of stomatal conductance and greatly enhanced tolerance to drought. Plants also display mild developmental abnormalities, such as serrated rosette leaves, delayed development and slightly reduced stature
Leads to hypersensitivity to cell-wall- or membrane-perturbing agents, cell-separation defects, a multinucleate phenotype, and loss of cell polarity
Inactivation of this gene results in a complete loss of the fumarate reductase activity displayed by KPK_2907, which contains a covalently bound FMN, but does not affect the Na(+)-NQR activity
No visible phenotype. Pirl1 and pirl9 double mutant is lethal due to a male-specific transmission failure leading to a severe pollen malformation
Deficient mice are viable, with no overt abnormalities. Female mice are fertile. Triple-gene deletion of OOSP1-3 in mice retains fertility but causes significantly lower blastocyst and reduced offspring number
Semi-dwarf phenotype with small and wide leaves. Erect leaf and panicle phenotype. Reduced lamina joint bending angles. Reduced tiller number and seed set. Reduced brassinosteroid sensitivity and altered expression of brassinosteroid-responsive genes (PubMed:19220793, PubMed:28069545). Decreased cell size, increased cell number, and abnormal cell arrangement and microtubule orientation (PubMed:28069545)
Leads to a large decrease in the transcription of pksCT and ctnC, together with reduction of citrinin production to barely detectable level (PubMed:17586673)
Temperature dependent; normal at high temperature (above 28 degrees Celsius), but in colder temperature, dwarf morphology, constitutive resistance to the bacterial pathogen Pseudomonas syringae, and induction of defense-response gene expression such as PR-30
Seedling lethal. High-chlorophyll (Chl)-fluorescence phenotype associated with an increase in non-photochemical quenching of Chl fluorescence and a higher de-epoxidation state of xanthophyll cycle pigments under low light. Impaired electron flow in photosystems I and II
RNAi-mediated knockdown causes a reduction in progeny numbers and a lengthening of the defecation cycle. Touch responses are normal. Expression of poly-Q 128Q (128Q consists of the first 57 amino acids of human HTT with a 28 Gln residue expansion) in RNAi-mediated knockdown animals causes a more severe reduction in touch response compared to wild type expressing 128Q
Does not affect production of fellutamides (PubMed:27294372)
Delayed germination time, reduced plant growth, delayed flowering and reduced oxygen consumption in the dark
Embryonic lethality due to embryo development arrest at the heart stage
Reduced efficiency of intracellular multiplication of tobamoviruses (e.g. crucifer strain TMV-Cg), characterized by a reduced accumulation of viral coat protein (CP) and reduced amplification of TMV-related RNAs
No visible phenotype when grown under normal conditions. Proline hypersensitivity
No visible phenotype under normal growth conditions. Extremely stunted growth, failure to develop true postembryonic leaves and arrested primary root elongation, when grown in vitro
Deficient female and male mice exhibit infertility associated with impaired ovarian development and arrested male meiosis
Mutants are impaired in the transport of glycine betaine at elevated osmolarity and at decreased temperature
Fishes have a defective lens structure and abnormally shaped jaw and neurocranium
Cells show an accumulation of the non-galactosylated isoform of Skp1 in cells
No visible phenotype under normal growth conditions, but mutant plants have increased sensitivity to genotoxic stresses and agents that damage DNA bases (UV and methyl methanesulfonate, MMS)
Does not significantly decrease the growth rate under nutrient-rich conditions (PubMed:28894236). Strongly reduces conidiation (PubMed:28894236). Causes only mild infection in point-inoculated spikelets of flowering wheat heads and impairs the spreading to nearby spikelets (PubMed:28894236). Reduces also strongly the production of deoxynivalenol (DON), an important virulence determinant (PubMed:28894236)
RNAi-mediated knockdown of the protein causes complete lethality at a late pupal stage. Muscle-specific knockdown is lethal under strongly induced conditions, but shows no obvious alteration in locomotion and behavior under mild induction conditions. Neuron-specific knockdown flies show striking motor defects. Analysis of synaptic and subsynaptic organization at larval neuromuscular junction shows normal overall synapse morphology, but a highly significant decrease in the amount of active zones, i.e. presynaptic microdomains of neurotransmitter release. Muscle size is smaller in knockdown animals compared to wild-type. Neuron-specific knockdown flies show decreased ability for non-associative learning, tested by non-associative jump-reflex habituation. Wing-specific knockdown produces flies with a dramatically reduced wing size. Eye-specific knockdown disturbs ommatidia and bristle organization and corrupts integrity of mitochondria. Electroretinograms show a gross defect in basal neurotransmission
Impairs mRNA export and transcription elongation, and induces strong transcription-associated hyperrecombination phenotypes
Normal magnetic response, no change in magnetosome size or number. A double mamF-mmsF deletion has a normal magnetic response, slightly smaller, fewer magnetosomes (PubMed:24816605). Deletion of any 2 genes encoded in this operon (mamC, mamD, mamF and mamG) decreases crystal size regardless of the protein combination. Deletion of the mamGFDC operon leads to smaller magnetite crystals in irregularly spaced chains, but no other phenotype (PubMed:17965152). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Plants do not contain sinapoylmalate and accumulate its biosynthetic precursor, sinapoylglucose
Reduces secondary metabolite production, including sterigmatocystin, a carcinogen biochemically related to the agricultural contaminant aflatoxin (PubMed:15075281)
Loss of expression of OmpC and OmpF under low and high osmolarity (PubMed:7934854). Deletion of both ompR and envZ leads to loss of both OmpC and OmpF expression under 0% and 15% sucrose (PubMed:2277041). Cells no longer reduce their internal pH in response to external acid stress (PubMed:29138484)
Leads to sensitivity to cationic amphiphilic drugs (CADs) such as sertraline
Early embryonic lethality (PubMed:20606008). The postimplantation development of mutant embryos is impaired, resulting in degeneration around embryonic day 6.5 (PubMed:20606008)
No visible phenotype (PubMed:26197390). However, reduced number of CD8alphaalpha gammadeltaT IELs has been reported (PubMed:25348153)
No obvious phenotype, however mice display increased BK channel activity and a subsequent decrease in synaptic transmission and presynaptic release probability in excitatory synapses (PubMed:29530986). Mice also display cognitive behavioral defects such as abnormal passive avoidance, hyperanxious behavior and decreased preference for new objects (PubMed:29530986). Treatment with the BK blocker paxilline rescues all synaptic and behavioral abnormalities except for hyperanxiety (PubMed:29530986). Brain and synaptic morphology is normal and long-term synaptic plasticity is not affected (PubMed:29530986). Conditional knockout in the forebrain results in no obvious phenotype, however mice display a deficit in contextual fear learning whereas anxiety-like behavior is unaffected (PubMed:21995942)
High lateral root developmental progression and enhanced lateral root density
Deletion of the ramC-ramS-ramA-ramB operon on rich medium leads to an initially bald (no aerial hyphae) phenotype; after 4 days develops a substantial aerial mycelium. Wild-type mycelium on minimal medium. No expression of SapB, normal expression of chaplins. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae
No visible phenotype (PubMed:17289662). Increased sensitivity to oxidative stress (PubMed:21996493)
Disruption prevents SpvB-induced F-actin depolymerization in human macrophages without affecting intra-bacterial SpvB protein levels
EsxKL deletion mutant shows reduced intracellular growth in primary human macrophages. Also shows growth defects in the absence of host cells
Early flowering under both long and short days and pleiotropic alterations in shoot development
Animals are sterile and display a protruding vulva phenotype (PubMed:17942488). Animals have uterine defects lacking both a uterine lumen and a utse-like process; subsequently fail to develop a differentiated uterus. Furthermore, uterine seam cell genes egl-13 and lin-11 are not expressed during late larval development (PubMed:17942488). At the L3 developmental stage, AC display either failed or delayed invasion leading to the defective removal of the gonadal basement-membrane (PubMed:15960981, PubMed:17488621). AC do not fuse (PubMed:17488621). AC specific expression of lin-3 is increased, but zmp-1, him-4 and aff-1 expression is undetectable and cdh-3 expression is reduced (PubMed:15960981, PubMed:17488621). RNAi-mediated knockdown of both isoforms results in sterility, a protruding vulva and exploded through the vulva phenotypes (PubMed:17942488, PubMed:19570917). Animals have an undifferentiated uterus and lack uterine egl-13 expression (PubMed:17942488). Animals also display an endomitotic oocytes phenotype, which is due to improper distal spermathecal valve dilation and reduced plc-1 expression in the spermatheca (PubMed:19570917). Animals have no mig-10b expression in AC (PubMed:24553288). RNAi-mediated knockdown of isoform b results in an everted/protruded vulval phenotype in adults (PubMed:23437011)
Differential expression of several genes (PubMed:31418686). Compromised ethylene-induced H2A.Z eviction dynamics (PubMed:31418686). Plants missing both EEN and REF6/EIN6 (e.g. ref6-1 een-2 and ein6-1 een-1), are insensitive to ethylene (ET) and exhibit reduced levels of EIN2 associated with a shift of the chromatin landscape to a repressive state at its locus (e.g. H3K27me3 and H2A.Z) (PubMed:31418686)
Pale phenotype. Defective in the general chloroplast protein import pathway
Male mice exhibit bilateral abdominal cryptorchidism due to alteration of gubernaculum development
Has been described as essential (PubMed:9743119, PubMed:16485133, PubMed:18344364), but also as non-essential (PubMed:15828870). Cells have a slow growth phenotype (PubMed:15828870, PubMed:16485133, PubMed:18344364, PubMed:22544754). Disrupted strain grows as chains of filaments, a cell curvature phenotype is also present, resulting in long wavy cells or short curved rods (PubMed:15828870, PubMed:22544754). Depleted cells form aberrant, swollen cells (PubMed:16485133, PubMed:18344364). Depleted cells DNA staining shows fragmented and/or disturbed nucleoid segregation; effects are seen most in minimal E-medium (PubMed:16485133). Depleted cells have an irregular deposition of cell wall and 15% have abnormal septal cleavage planes (PubMed:18344364)
Pleiotropic, with decreased production of exoenzymes such as pectate lyase (Pel), cellulase and protease Prt. Has a 50% decrease in potato macerationafter 96 hours. Dramatically reduces transcription of carA, the antibiotic carbapenem biosynthetic gene
The fat-1 mutant displays a reduction in the n-3 PUFAs, the homozygous strain is incapable of producing the normal levels of C18 or C20 PUFAs
Aberrant mycorrhizal development with an increased number of septated hyphae and degenerate arbuscules during root colonization by arbuscular mycorrhizal (AM) fungi (e.g. Rhizophagus irregularis)
Mutants rear and groom less, they have a shorter stride length than their wild-type counterparts, but take more forelimb and hindlimb steps. They display deficits in short-term spatial memory as early as 4.5 months of age during place preference testing, as well as impaired coping strategies in the forced swim test
Inactivation of the ftcR gene down-regulates the activity of the fliF promoter region and the production of both flgE and fliC proteins during vegetative growth or during macrophage infection. This mutant also lacks the flagellar structures under growth conditions in which the wild-type strain is flagellated. The mutant is not attenuated in cellular infection models but exhibits a marked virulence defect after 4 weeks or more of infection in mice
No visible phenotype in normal conditions
Female gametophyte mutant with impaired progression of the mitotic cycles and lost synchrony of female gametophyte development leading to an arrest of female gametophytes at the two-, four-, or eight-nucleate stage and characterized by unfused polar nuclei (PubMed:19734265, PubMed:15634699). Defective pollen development (PubMed:19734265)
The mutant exhibits decreased dissimilatory nitrite reductase (NIR) activity (PubMed:8982003). In the absence of this gene, the formation of the acrylic double bond of heme d1 does not take place and dihydro-heme d1 is inserted into the nitrite reductase NirS (PubMed:25204657)
Not essential. Loss of 5'-processing of pre-5.8S rRNA, and the 2.6 kb rRNA which form the two 23S rRNA fragments. No removal of last 3 nucleotides at the 5' end during processing of 16S rRNA
RNAi-mediated knockdown results in the irregular localization of nuclear envelope associated proteins such as unc-84 (PubMed:11870211). RNAi-mediated knockdown results in nuclear migration defects in hyp7 hypodermal precursor cells (PubMed:25057012)
Knockout mice do not manifest aminoaciduria or glucosuria
Essential in strain C600. Disruption in MG1655 confers cold-sensitivity with asynchronously replicating DNA, which is quickly suppressed. Increased levels of plasmid IncP-alpha RK2 in strain BL21-DE3, increased plasmid replication in vitro
No severe auditory and vestibular phenotype; does not lead to circling behavior, balance impairment or hearing loss
RNAi-mediated knockdown impacts chromosome segregation leading to abnormal chromatin distribution (PubMed:16950114, PubMed:17339379). Disrupts mel-28 localization to kinetochores (PubMed:16950115). Leads to cleavage furrow regression and failed cytokinesis during the second embryonic division (PubMed:23684975). RNAi-mediated knockdown abolishes the localization of hcp-6 at the centromeres of mitotic chromosomes (PubMed:12080088)
Ventralized embryos
Slight reduction in plant size and chlorophyll content, and early flowering
Mutant mice show an hypopigmentation of the coat and have the retinal pigmented epithelium significantly less pigmented than wild-type retinas
Mortal germline (Mrt) phenotype in which there is a progressive decline in fertility with each generation at 25 degrees Celsius
No visible phenotype, probably due to the redundancy with ETP1
Disruption of dmsA results in the inability to use DMSO or TMAO as the terminal electron acceptor in anaerobic respiration and in greatly diminished in vitro DMSOR activity
Leads to inefficient mitochondrial sequestration and degradation, as well as to defective reticulophagy and pexophagy (PubMed:29305265)
Essential, it cannot be deleted (PubMed:26621210). LolA depletion affects cell envelope stability, and decreases the ability to cause infection in a G.mellonella model of infection and in a mouse model of pulmonary infection (PubMed:26621210)
Impairs filamentation induction
Early embryonic lethality. Transgenic mice with exon 13-deleted RECQL4 are severely growth-retarded and show high (95%) perinatal lethality. They exhibit various skin, bone, intestine, tooth and thymus abnormalities and premature aging features, but have normal sensitivity to IR and UV irradiation. In contrast, transgenic mice expressing a truncated form of RECQL4 exhibit mild perinatal lethality, no growth defect, but show defects of the skin and skeleton, aneuploidy and increased cancer susceptibility
RNAi-mediated knockdown causes abnormal male tail morphology
Disruption of the gene maintains the ability of the strain to produce the pyoverdine siderophore (PubMed:18824174). Deletion mutant is more sensitive to chloramphenicol and ciprofloxacin in comparison with its parent strain. This sensitivity is probably due to transcriptional repression of mexT and mexEF-oprN genes. Exogenous addition of paerucumarin resumes the expression of mexT and mexEF-oprN genes as well as resistance against chloramphenicol and ciprofloxacin (PubMed:32941967)
No visible phenotype under normal growth conditions, but mutant plants are hypersensitive to UV-B light and gamma rays
Cells lacking this gene are inhibited when they grow on acetate and palmitate
Narrow leaves and reduced root growth that results from a decreased cell division rate. Higher resistance to oxidative stress mediated by methyl viologen (MV) that blocks electron transport during photosynthesis and by CsCl in light. Accumulates anthocyanins
Animals are hypersusceptible to influenza virus infection because of a defect in the activation of a subset of type 1 IFN-stimulated genes, however the amounts of IFNB produced are normals. Lungs of mice infected 7 days with influenza virus exhibit an inflammatory infiltrate consisting of lymphocytes, macrophages and neutrophils. After West Nile virus infection, animals display earlier neurological symptoms, a higher degree of neurovirulence and a failure to recover, compared to wild type. Animals are protected from high-fat diet-induced obesity, liver and adipose inflammation, hepatic steatosis and insulin resistance. They show an increased energy expenditure and thermogenesis and maintain insulin sensitivity in liver and adipose tissue
Male sterility due to pollen abortion after meiosis. Accumulation of free bases of cytokinins and enhanced resistance to exogenous cytokinins
Grows faster than wild-type photomixotrophically (in light with glucose), specific activity of photosystem II (PSII) is about 30% higher, most cells are single when 90% of wild-type are doublets. Increased transcription of most PSII genes under most conditions, transcription of PSI and phycobilisome-related genes are mostly decreased (PubMed:10894737). A double rppA-rppB (nrsR-nrsS) deletion is less tolerant to growth on Ni(2+), no longer expresses nrsB (slr0793, involved in Ni(2+) resistance) in response to Ni(2+). Loss of expression of this operon. There are no growth effects, no changes in pigment concentration, no changes in PSII or nblA transcript levels seen in the double mutant (PubMed:11849552)
No visible phenotype under normal growth conditions, but the double mutants lsm1a and lsm1b show severe developmental alterations, such as delayed seed germination, reduced root length, epinastic, chlorotic and small cotyledons, small and serrated leaves, abnormal venation in cotyledons and leaves, dwarf plants with early flowering, short siliques with reduced seed number and small morphologically alterated seeds
The knockdown of this gene results in a loss of t(6)A37 modification in tRNAs
Mice expressing reduced levels of the protein in the central nervous system and kidney develop perinatal triventricular hydrocephaly, polycystic kidney disease, lack functional intact cilia and die at the time of weaning
Flies exhibit problems in vein, eye, and bristle development
According to PubMed:11911823, mice display altered endocytosis of monomeric IgG and impaired antibody-dependent killing of cells by macrophage. Antigen presentation is also affected and those mice develop only reduced inflammatory responses. An increased in IgG responses is also detected associated with an increased number of antibody-forming cells. PubMed:11911824, also reported that a variety of IgG2a-immune complex-dependent immune functions like protection against bacterial infection were impaired
Short plant, delayed flowering, leaf hyponasty, reduced fertility, decreased rate of root growth, altered root gravitropic response, decreased sensitivity to auxin and cytokinin and hypersensitivity to abscisic acid (ABA). Reduction of several miRNA accumulation
Accumulation of ajmalicine at the expense of catharanthine and vindoline production (PubMed:29147812, PubMed:30256480). Lower tabersonine-forming activity (PubMed:30256480)
Impairs pathogenicity (PubMed:22589729, PubMed:24850852). Leads to clear reduction in lesion development on cucumber leaves (PubMed:22589729)
RNAi-mediated knockdown in small and large ventral lateral neurons increases total sleep in both the day-time and the nighttime and decreases sleep latency during daytime only
Alteration of the morphology of feeding site and failure of nematode life cycle completion
Stabilizes urg1 transcripts (PubMed:19430462)
No visible phenotype under normal growth condition, but upon infection with P.syringae, no accumulation of stigmasterol and increased resistance to the pathogen
Larvae undergo precocious metamorphosis in the third (dimolter) or fourth instar (trimolter)
Decreased number of endocycles and lower volume of largest cells in petioles (PubMed:10449413). Impaired nodule development associated with a lower ploidy, reduced cell size, inefficient invasion by bacteroids and altered maturation of symbiotic cells, leading to an early senescence and the death of both the bacterium and host plant cells (PubMed:12953113)
Mutant cannot grow on minimal media with no added methionine
Slighty reduced chitin-induced cell wall modification compared to wild-type. Modest reduction in chitin-induced MPK phosphorylation. The levels of mRNAs of the defense-related PAL4 and CHS are being less induced following chitin treatment
Increased sensitivity to cadmium stress and increased accumulation of hydrogen peroxide in leaves upon cadmium treatment
GET3-deficient embryos have impaired swim bladder inflation and reduced body size. From day 5 post-fertilization, the mutants display abnormal cardiac contractions and decreased blood flow velocity in the dorsal aorta and cardinal vein. Mutant hearts also have irregular shape and thin walls
Cells lacking this gene produce neither staphylopine nor the biosynthetic intermediate 2-amino-4-{[1-carboxy-2-(1H-imidazol-4-yl)ethyl]amino}butanoate. They also show a decrease in the intracellular content of nickel, copper, cobalt, iron, and zinc
Enhanced glucose tolerance and insulin sensitivity, increased activity of hepatic glycogen synthase, elevated hepatic glycogen storage and reduced fat mass
Cells lacking this gene do not show any lysine-epsilon oxidase activity
Reduced flavonols levels in roots. The double mutant myb12 myb111 and triple mutant myb11 myb12 myb111 accumulate less flavonols in roots, leaves, stems, inflorescence, and siliques. The double mutant myb11 myb12 is specifically altered in flavonols content of siliques and roots (PubMed:20731781). The triple mutant myb11 myb12 myb111 is impaired in flavonols biosynthesis and exhibits a reduced UV-B tolerance (PubMed:17419845, PubMed:19895401)
Mice exhibit normal pregnancy and wound healing, but consistent with the human hereditary disorder Alport syndrome they develop a progressive glomerulonephritis with microhematuria and proteinuria
Deficient mice exhibit obesity associated with hyperphagia
Deficient mice exhibit a markedly altered enteric microbiota composition, with increased levels of fecal flagellin
Morpholino knockdown of the protein causes smaller eyes compared to wild-type animals and aberrant light-induced locomotor response
Impaired in BABA-induced sterility (ibs) and BABA-induced protection against P.syringae, H.parasitica, and salt. Affected in the priming for callose deposition
Mutant mice appear normal, excepting subtle defects in motor coordination and a slight intention tremor (PubMed:7516497). They have similar numbers of motoneurons as wild-type at birth, but display an important loss of motoneurons during the first week after birth (PubMed:26335717).Five month old mutant mice display a decreased ability to remain on a rotating cylinder (PubMed:15953602). Contrary to wild-type, about 40% of mutant mice have severe episodes of whole-body tremor, both during movement and when resting (PubMed:15953602). The myelination in brain and around peripheral nerves appears grossly normal in young animals, but the periaxonal cytoplasmic collar is often missing in optic nerve (PubMed:7516497, PubMed:9262180, PubMed:9482781, PubMed:9469574). When present, the cytoplasm of the periaxonal collar has generally a disorganized aspect (PubMed:7516497). Mutant mice have an increased percentage of unmyelinated axons in optic nerve (PubMed:9262180, PubMed:9469574). Besides, a small proportion of nerves from mutant mice display redundant myelination, and also rare cases of multiple myelination, where axons are surrounded by two or more compact myelin sheets (PubMed:9469574). Sciatic nerves from over three month old mutant mice show signs of Wallerian degeneration, with redundant myelin, degeneration of myelinated fibers, and an apparent decrease in the diameter of myelinated axons (PubMed:9482781, PubMed:15953602). The distances between neurofilaments in myelinated axons from over 3 month old mice are shorter than normal (PubMed:9482781, PubMed:15953602). With increasing age, mutant mice display progressive axon degeneration in the spinal cord and sciatic nerve, resulting in a decrease of 28% in the number of spinal cord axons after 15 months (PubMed:19158290). Mutant mice display increased motoneuron apoptosis after injury (PubMed:26335717). Likewise, they display strongly increased axon degeneration after treatment with the neurotoxin acrylamide (PubMed:19158290). Mutant mice display much more severe axon loss in response to experimental autoimmune encephalitis (PubMed:19158290)
Deficient mice are born at the normal Mendelian ratios and grow healthily until 16 week of age. Normal lymphocyte development is observed. However deficient mice shown an increased in ATP concentrations in the small intestinal lumen and increased numbers of IL-17-producing Th17 cells in the small intestinal lamina propria. They show increased resistance to Citrobacter rodentium infection and increased susceptibility to experimental autoimmune encephalomyelitis
Cells are sensitive to replication stress hydroxyurea (HU) and also exhibits weak sensitivity to ultraviolet (UV) and methylmethane sulfonate (MMS)
RNAi-mediated knockdown in tracheal cells results in defective gas-filling lumen in terminal branches
Increased sensitivity to hydroxyurea, probably because more reactive oxygen species accumulate
RNAi-mediated knockdown positively modulates lifespan; effect abolished in hsf-1 mutant background (PubMed:22265419). Increases resistance to both heat and oxidative stresses (PubMed:22265419). Increases localization to the nucleus and also DNA binding activity of heat-shock transcription factor hsf-1 after heat shock (PubMed:22265419). Increases in transcript levels of heat shock protein genes sim-1, hsp-70, hsp-16.2 and F44E5.5 after heat shock, but not in unstressed conditions (PubMed:22265419). May also moderately decrease levels of post-translationally modified hsf-1 under heat stressed conditions (PubMed:22265419)
Viable, and able to reproduce normally, but embryos contain large lipid droplets (PubMed:26121959, PubMed:26357594). Reduced body fat accumulation (PubMed:26121959). Lipid droplets cluster in intestinal cells and contain a reduced amount of triglycerides (PubMed:26025681). RNAi-mediated knockdown results in a reduced brood size (PubMed:26357594)
Mice were born with normal Mendelian ratio without developmental defects (PubMed:28655767). Cells show reduced N(3)-methylcytidine modification in tRNA fractions (PubMed:28655767)
Delayed germination, compromised development, cholortic phenotype with impaired growth, due to lysine accumulation
Formation of abnormally large and round secondary cell-wall pits in roots metaxylem vessels (PubMed:28803875). The double mutant iqd13 iqd14 exhibits larger secondary cell-wall pits (PubMed:28803875)
Reduced levels of serum triglyceride (PubMed:20562862, PubMed:24043787). Mice gain weight more slowly than wild-type littermates due to a reduction in adipose tissue accretion. Plasma levels of triglycerides are similar to wild-type animals in the fasted state but decreased after refeeding. The lower triglyceride levels are associated with a reduction in very low density lipoprotein secretion and an increase in lipoprotein lipase (LPL) activity (PubMed:24043787). Glucose and insulin tolerance are not affected and no alterations in glucose homeostasis are observed in mice fed either a chow or high fat diet (PubMed:24043787). Moreover, deletion does not affect the compensatory proliferation of pancreatic beta cells in response to insulin resistance induced by a high-fat diet or treatment with the insulin antagonist S961 (PubMed:25417115)
Shorter root hairs
Pale green leaf phenotype. Seedling lethality
Results in the loss of production of equisetin and fusarisetin A (PubMed:25770422)
No effect on SecY degradation
Leads to poor ubiquitination of CIT2 and accumulation of citrate in the cells
Homozygous lethal. In a weak loss-of-function phenotype, a gap in the fifth longitudinal vein of the adult wing is observed
Mutants have a developmental arrest coupled with embryonic lethality at 8.5 dpc. They show a major defect in the expression of respiratory chain complex I subunit NDUFS7/CI-20
No visible phenotype; due to the redundancy with GXM1 and GXM2. Reduced levels of methylated glucuronic acids. Gxm2 and gxm3 double mutants show reduced stem mechanical strength
No visible phenotype, due to the redundancy with NET1B. Net1a and net1b double mutant shows a significant acceleration in root-cell expansion
Deletions mutants generate fewer abscesses with a reduced bacterial load compared to wild-type strain
Single lprG deletion mutant (probably does not express this protein) has decreased surface-exposed glycolipid lipoarabinomannan (LAM), although cellular LAM, LM and PIM content is normal (PubMed:25356793)
No visible phenotype under standard growth conditions. Increased resistance to 5-fluorouracil cytotoxicity
Shorter siliques and reduced seed sets in pv42a and pv42b RNAi double mutant
Deficient mice shown complete embryonic lethality (PubMed:25038227)
RNAi-mediated knockdown does not cause defects in somatic gonad development (PubMed:20026024). RNAi-mediated knockdown in a ehn-3 rd2 mutant background enhances the defects in gonadal development in the ehn-3 single mutant (PubMed:20026024)
Mice display insulin-deficient diabetes. Embryos and fetus develop normally. At 4 weeks of age, mice show have normal blood glucose levels but impaired glucose tolerance. Isolated islets have markedly impaired glucose- or arginine-stimulated insulin secretion. By 7 weeks of age, they develop severe hyperglycemia with markedly decreased serum insulin levels and nearly normal insulin tolerance. As the animals age, there is a progressive loss of beta cells in pancreatic islets, but there is no loss of alpha, delta, or PP cells. 4 week-old mice have enhanced sensitivity to the diabetogenic agent streptozotocin
Cells lacking both prpC and prpD are unable to grow on propionate media in vitro or in murine bone marrow-derived macrophages infected ex vivo. Paradoxically, bacterial growth and persistence, and tissue pathology, are indistinguishable in mice infected with wild-type
Results in coenzyme Q deficiency
Irregular positioning of the AQR and PQR neurons in larva at the L4 stage
Enhanced plasmodesmata-mediated symplastic transport through the phloem pole pericycle (PPP)-endodermis interface due to a defect in the formation of the endoplasmic reticulum (ER)-plasma membrane tethers during plasmodesmal morphogenesis and associated with pores lacking cytoplasmic sleeve
Mutants are pleiotropically defective in alginate biosynthesis from various carbon sources
Doubling time increases for growth under nonstress conditions, unable to initiate growth at pH 5.0 and under 3.5% NaCl salt stress. Double deletions of yidC2 and SRP (signal recognition particle) components are barely able to grow in the absence of stress. E.coli yidC partially complements this disruption
Flies display a severe decrease in daytime activity pattern and an increase in sleeping periods
Null mutants exhibit strong masculinization and male mating behavior. XX male mutants are infertile, produce sperm from day one of adulthood, but by day three of adulthood, switch from spermatogenesis to oogenesis and produce irregular oocytes. Mutants display early somatic gonad precursor lineage defects, whereby Z1 precursors divide with reverse polarity and Z4 precursors migrate prematurely. Most animals rectify these defects to produce normal male somatic gonad. RNAi-mediated knock-down in XO male animals yields a partially feminized germ line that contains both sperm and oocytes in males, but not hermaphrodites
No visible phenotype under normal growth condition, but hypersensitivity to elevated levels of salt
Early flowering. Loss of post-transcriptional gene silencing (PTGS), but not of transcriptional gene silencing (TGS)
Mice are born at the expected Mendelian rate, but there is important perinatal lethality and the majority do not survive till weaning. Mutant mice have considerably less body mass and accumulate less body fat than wild-type, in spite of normal food intake. Heterozygous mice display higher oxygen uptake, increased activity levels and higher energy expenditure than wild-type. In addition, they display increased expression of genes required for thermogenesis, increased activation of signaling cascades downstream of beta-adrenergic receptors, more rapid readjustment of body temperature when exposed to cold and increased heat production
Plants develop smaller leaves, and collapsed and inviable pollen grains. They are resistant to the biotrophic pathogens Erysiphe cichoracearum (powdery mildew), E.orontii and Hyaloperonospora parasitica
Reduced bacterial fitness and reduced pathogenicity
Defects in nonsense-mediated decay (NMD)
Conditional knockout at the ring stage results in the production of merozoites; however, these merozoites fail to start a new infection cycle due to a failure to invade new host erythrocytes (PubMed:28810863). During schizogony, daughter merozoite development and segmentation is abnormal and is characterized by the presence of aberrant membranous pockets adjacent to the food vacuole (PubMed:28810863). Apicoplasts have few branches and collapse close to the food vacuole failing to migrate to individual daughter cells (PubMed:28810863). No defect in secretory organelles or mitochondria and the formation of Maurer's clefts in the host cytoplasm is normal (PubMed:28810863). Egress from host erythrocytes is normal; however, some merozoites stayed conjoined, remaining connected to each other and to the central food vacuole (PubMed:28810863). No defect in microneme secretion (PubMed:28810863). Merozoite attachment to the host erythrocyte, reorientation and secretion of RON proteins are normal (PubMed:28810863). However, the formation of the circular junction between the parasite and host cell membranes is impaired and merozoites are incapable of deforming and invading host erythrocytes (PubMed:28810863). Production of gametocytes is normal (PubMed:28810863)
RNAi-mediated knockdown results in basal membrane proteins such as vkg, LanB1 and Trol accumulating in the basal ER
Lethal (PubMed:23720043, PubMed:24786584). Embryos display an aberrant pattern of denticles with some additional dorsalization and twisting (PubMed:23720043). It is associated with a defect in heparan sulfate proteoglycan synthesis which in turn alters hedgehog signaling (PubMed:23720043)
Leads to accumulation of core-glycosylated glycoprotein precursors
Sensitive to caffeine, paromycin, and thermal stress (PubMed:18627462). Resistance to diphtheria toxin, sordarin and zymocin (PubMed:27694803, PubMed:18627462)
Defective Embryo and pollen lethality. RNAi mutants display plant size reduction, altered leaf morphology and increases in relative amounts of saturated sphingolipid long-chain bases
Hyper-induction of abscisic acid (ABA)-inducible transcription factors (e.g. ABI5 and MYC2) and their downstream genes in response to ABA (PubMed:21421380). Increased sensitivity to ABA and salt stress leading to reduced root length and increased dehydration tolerance (PubMed:21421380). The double mutant ktn80.1 ktn80.2 exhibits normal growth, but the quadruple mutant ktn80.1 ktn80.2 ktn80.3 ktn80.4 has a severe dwarf phenotype, with small and round dark-green rosette leaves as well as wide and short petioles, probably due to cell elongation defects, and associated with a complex cortical microtubule (MT) network with stable entanglements (PubMed:28978669). Plants missing KTN80s have a disruption of KTN1 recruitment at MT crossover or branching nucleation sites, leading to an abolishment of MT severing (PubMed:28978669)
Mutant females produce a ventralized eggshell. A fraction of eggs are fertilized and the resulting embryos have a variety of pattern abnormalities. In mutant ovaries, grk RNA is mislocalized during mid-oogenesis and grk protein levels are reduced. Defects in microtubule organization around the oocyte nucleus (PubMed:16540510). Bristles are considerably shorter and thicker than normal and have an altered morphology and growth direction (PubMed:16540510, PubMed:19917727, PubMed:26092846). Actin bundles are poorly oriented in mutant bristles (PubMed:19917727). Defective dendrite pruning in C4da sensory neurons with primary dendrites remaining connected to the cell body in contrast to wild-type neurons where dendrites are pruned by 18 hours after puparium formation (PubMed:26540204)
Embryonic sublethality and craniofacial dysmorphism (PubMed:30982744). Surviving mice display anatomical defects, including anophthalmia and craniofacial dysmorphism (PubMed:30982744). Adult mice are moribund and exhibited splenomegaly with anemia and severe leukopenia, indicative of aberrant hematopoiesis (PubMed:30982744)
Reduced resistance to Hyaloperonospora arabidopsidis isolate Hiks1. Slight early flowering phenotype
Deficient mice have no overt developmental abnormalities. Furthermore, no deleterious effects on testicular histology and sperm morphology are observed. However male mice are severely subfertile, their spermatozoa show impaired ability to fuse with the oocytes
Cells lacking this gene display a strong clockwise motor bias; in combination with a yhjH disruption cells switch to a counterclockwise bias
Cells up-regulate expression of nrdRJ and nrdABS transcription. A mutant in which amino acids 1 to 41 are deleted is unable to bind zinc and also unable to bind the nrdABS and nrdRJ promoters. A mutant in which amino acids 151 to 182 are deleted is able to bind to both promoters to the same extent as the wild-type. Functional zinc-finger and ATP-cone domain are required for binding to the promoter regions of both sets of RNR genes
Leads to defects in neuronal function (PubMed:9883720). T-cells show impaired directional migration in response to the chemokines Cxcl12 or Ccl21 (PubMed:22810897). Abl1 and Abl2 double knockout mice have T-cells that show reduced chemokinesis and cell polarization in response to Icam1, Cxcl12 and Ccl21, subsequent Rap1 and Rac1 activation is reduced (PubMed:22810897). Additionally T-cells show decreased Cxcl12-induced tyrosine phosphorylation of Nedd9/Hef1 and reduced homing of T-cells to lymph nodes and immuno-challenged tissues (PubMed:22810897)
Pale green leaf phenotype
Mice display hepatopathy and aspermia. The hepatopathy is progressive and characterized by centrilobular hepatocyte hypertrophy, oval cell proliferation, bile staining of Kupffer cells, and hepatocyte degeneration with increasing incidence and severity of degenerative lesions, development of multiple foci of cellular alteration, and hepatocellular neoplasia with age
Reduces significantly the induction of the FBD cluster genes in response to 6-methoxy-2-benzoxazolinone (MBOA) treatment (PubMed:26828593). Impairs the degradation of MBOA but does not affect the degradation of BOA and 2-aminophenol (2-AP) (PubMed:26828593)
Cells lacking this gene lose KHG aldolase activity
Strongly represses cell swarming but no effect on cell swimming (PubMed:17122336). Cells lacking this gene show significantly reduced FAD and FMN levels (both by 13%) (PubMed:25431972)
GlgE inactivation causes rapid death of M.tuberculosis in vitro and in mice through a self-poisoning accumulation of maltose 1-phosphate, driven by a self-amplifying feedback stress response
No visible phenotype. Mice exhibit normal spermatogenesis and testis development, as well as normal central nervous system development. NR2C1 and NR2C2 double null mutants result in early embryonic lethality and increased apoptosis. Embryos die around 7.5 dpc
No visible phenotype. Decreased mitochondrial protein ADP-ribosylation. Increased plasma insulin levels. Mice develop lung tumors more frequently. Defects in lipid metabolism, leading to increased protection against diet-induced obesity. Animals show higher levels of NAD(+) in liver (PubMed:24043310). In the hepatic periportal zone, decreased number of mitochondria with an increase in their length (PubMed:24043310)
Mice are born at the expected Mendelian rate. No visible phenotype; likely due to the redundancy with FUT7. Simultaneous knockdown of FUT4 and FUT7 results in leukocytosis characterized by an 18.4 fold increase in blood neutrophils and significant increases in blood monocytes, eosinophils, and lymphocytes numbers
Aflatoxin production is not inhibited, while the enzyme activity catalyzing the reaction from versiconal hemiacetal acetate (VHA), to versiconol acetate (VOAc), which branches from the main pathway, significantly decreases
Complete perinatal lethality. Mice are born at the expected Mendelian rate, but die within one day after birth, due to severe defects in the skin barrier function, leading to rapid transepidermal water loss and dehydration
Inability to limit tetrazolium salt uptake in seeds, development of hair-like structures on seeds, altered pollen morphologies, deformed or collapsed, and decreased levels of omega-hydroxy fatty acids in seed coats
Embryo sac development arrest at two-, four-, or eight-nucleate stages, associated with abnormal nuclear numbers and positions in embryo sac, aberrant embryo sacs and unfused polar nuclei (PubMed:15634699). Disrupted progression of the mitotic division cycles of the female gametophyte leading to an impaired synchrony of female gametophyte development (PubMed:15980260). Reduced root growth and accumulation of unprocessed 18S pre-rRNA (PubMed:15980260)
Mutant is unable to grow on either glucuronate or galacturonate, but is able to grow on fructuronate or tagaturonate
RNAi-mediated knockdown in Akh-producing cells of the corpora cardiaca results in a significant decrease in combined glucose and trehalose levels (PubMed:20523747). RNAi-mediated knockdown results in defective muscle patterning (PubMed:27628033). RNAi-mediated knockdown results in a reduction in the pale ommatidia subtype (PubMed:28853393)
Knockout mice are fertile and appear healthy when housed in a standard specific pathogen-free environment (PubMed:16407890, PubMed:16407888). They do not exhibit any increase in serum IL1B after administration of R837 (an analog to guanosine and TLR7 agonist) and/or LPS (PubMed:16407890, PubMed:16407888). When challenged with LPS, mutant mice are partially resistant to endotoxic shock (PubMed:16407890, PubMed:16546100). Mutant mice display impaired contact hypersensitivity, a T-cell-mediated cellular immune response to repeated epicutaneous exposure to contact allergens, such as trinitrophenylchloride (PubMed:16546100). In response to asbestos inhalation, mice show diminished recruitment of inflammatory cells to the lungs, paralleled by lower cytokine production (PubMed:18403674). In a model of allergic asthma that promotes strictly Th2 responses, mutant animals show less infiltration of eosinophils and lymphocytes into the lungs than their wild-type counterparts, as well as less accumulation of mucus and lymphoid infiltrates (PubMed:26098997). The concentration of Th2 cell-related cytokines, including IL-5 and IL-4, is also lower in lungs from mutant mice compared to wild-type (PubMed:26098997). Knockout mice develop insulin (INS) resistance in response to high-fat diet (PubMed:23809162). Mutants mice are protected from lung injury and cytokine production induced by human SARS coronavirus-2/SARS-CoV-2 N protein (PubMed:34341353)
Mutants are impaired in Fe-S cluster metabolism. They are conditional thiamine auxotrophs and have lower aconitase and succinate dehydrogenase activities
Nullizygous embryos Dkkl1 mice develop into viable, fertile adults
Impairs the hyphal formation and attenuates the virulence in a mouse systemic candidiasis model
Impairs the cytoplasm to vacuole transport (Cvt) pathway, pexophagy, mitophagy and non-selective autophagy (PubMed:28830792). Enhances conidiation and significantly reduces cephalosporin production (PubMed:28830792)
Impairs growth on oleate as well as on the non-fermentable carbon sources ethanol and acetate (PubMed:27392156). Leads to increased level in threonine, serine, valine, isoleucine and histidine; as well as a reduction in citrulline, tyrosine and phenylalanine (PubMed:27392156)
Does not survive in murine macrophages, although it can invade epithelial cells. Disruption restores host cell phagosome-lysosome fusion and host vesicular trafficking. Also prevents SpvB-induced F-actin depolymerization in human macrophages without affecting intra-bacterial SpvB protein levels
Cells have no magnetic response but still make empty magnetosome membranes. Alterations in localization of magnetosome proteins; MamA is mislocalized to random foci near the cell membrane, while MamJ is more diffuse than in wild-type (PubMed:20212111). Alterations in localization of magnetosome proteins MamC, MamF and MamI (PubMed:21414040). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
Mutant mice are susceptibile to S.aureus cutaneous infection (PubMed:20364087). Mutant mice are susceptible to A. fumigatus pulmonary infection characterized by excessive mucus production, goblet cell hyperplasia and exacerbated T-helper 2 allergic inflammation (PubMed:28813677)
Cells lacking this gene produce bacteriochlorophyll c (BChlc) that is not methylated at C-12(1) and show a growth rate that decreases to 53% of that of the wild-type at low light intensity. Double mutants lacking both bchR and bchQ produce bacteriochlorophyll c (BChlc) that is not methylated at C-8(2) and C-12(1), and show a growth rate that decreases to 41% of that of the wild-type at low light intensity
Mice show light responses that recover at a abnormally slow rate
Morpholino knockdown of the protein causes no gross defects in embryos, with the exception of hypochromic blood due to decreased hemoglobin levels
Knockout homozygous mice manifest decreased mitochondrial respiratory activities and impaired formation of mitochondrial supercomplexes in muscles. KO animals have muscle weakness and exhibit heat production failure in the cold
Cells lacking this gene show a reduction in tocopherol levels by 50% or more, and an accumulation of free phytol (PubMed:16361393). When measuring the kinetics of chlorophyll labeling after adding 13C, the mutant cells show a similar rate of chlorophyll synthesis and degradation as the wild type, but show a reduced rate of accumulation of chlorophyll containing labeled porphyrin/unlabeled phytyl (13Por12Phy) (PubMed:17499209)
No visible phenotype; grows as well as wild-type at 25-49 degrees Celsius, no apparent impairment in sporulation or phage SP01 growth
Leads to an accumulation of acetate and of isobutanol
Accumulation of anatabine at the expense of nicotine (PubMed:14756309). Plants suppressed for PMT1, PMT2, PMT3 and PMT4 exhibit strongly reduced nicotine levels but accumulate polyamines in roots, and have an impaired leaf maturation phenotype at harvest (PubMed:34095742)
Increased number of tillers, reduced plant height, and elevated levels of strigolactones
No longer metabolizes ferulic acid (PubMed:26658822)
Induces premature differentiation of germline stem cells (GSCs)
Reduced plant size, reduced content of cellulose, collapsed xylem vessels and wilting of inflorescence stems (PubMed:9165747). Enhanced resistance to the pathogens Ralstonia solanacearum and Plectosphaerella cucumerina (PubMed:17351116)
Simultaneous knockout of KIN82 leads to decreased phosphatidylcholine and glucosylceramide transport into the cell
In a double psbH-psbN deletion has a no more deleterious effect than the single psbH deletion, which suggests it has no role in photosystem II
RNAi-mediated knockdown at day 5 of adulthood (earlier RNAi treatment causes worms to become sick) causes extended longevity and also increases expression of elt-3 in the trunk hypodermis; longevity effect is suppressed in an elt-3 mutant background (PubMed:18662544). RNAi-mediated knockdown at the L1 stage has little effect on the average number of seam cells per side, but the number is reduced in an egl-18 mutant background (PubMed:23633508). RNAi-mediated knockdown at the embryonic or L3 stages reduces expression of lin-39; expression is reduced further in an egl-18 mutant background
Single deletion has a wild-type phenotype, a double ccmK3-ccmK4 deletion has slightly larger, aggregated instead of spatially separated carboxysomes, and has a photosynthetic affinity for inorganic carbon between wild-type and carboxysome-less strains (PubMed:22928045). In another study single mutant grows slower in air and low light, double ccmK3-ccmK4 mutant has similarly impaired growth rate; ccmK3 does not complement the double deletion, while ccmK4 does (PubMed:30389783)
Complete sterility
Reduces the amounts of DHMBA produced and strongly reduces the production of yellow pigmentation
Larval lethal at the first instar stage. Hindgut development during embryogenesis appears normal but at the first instar larval stage the hindgut protrudes out of the anus and probably causes the lethality
Reduced infection by filamentous (hemi)biotrophic oomycetes (e.g. H.arabidopsidis and P.parasitica) and fungal (e.g. E.cruciferarum) pathogens, independently of plant defense mechanism (PubMed:21711359, PubMed:25274985). Hypersensitivity to abscisic acid (ABA), displaying enhanced ABA-mediated inhibition of seed germination, root elongation, and stomatal opening. Impaired repression of ABA-sensitive COLD REGULATED and RESISTANCE TO DESICCATION genes upon oomycete infection. No obvious modification of defense-related gene induction during pathogen attack (PubMed:25274985). Hypersusceptibility to the necrotrophic bacteria P.syringae. Defective pattern-triggered immunity (PTI) responses, delayed up-regulation of PTI marker genes, reduced callose deposition, and mitogen-activated protein kinase activation upon microbe-associated molecular patterns (MAMPs) treatment. Impaired beta-aminobutyric acid (BABA)-induced resistance and priming (PubMed:27317676)
Mutants show increased sensitivity to methyl viologen
No loss of ability to form persister cells in MG1655, represses persister cell formation in BW25113. Deletion decreases biofilm formation in LB medium (PubMed:16352847). Deletion has also been shown to increase biofilm formation (PubMed:20105222). Deletion at 48h, in flow cells, leads to a reduction in biomass, substratum coverage and changes the biofilm architecture from a 54 micron thick film with microcolonies to one with nearly no biomass and only a few colonies remaining. Deletion abolishes motility. A double mqsR-mqsA deletion leads to increased rpoS mRNA levels, resulting in increased cyclic-di-GMP levels, increasing stress resistance, increased biofilm formation (PubMed:21516113). The double mutant has increased metabolism and respiration in the presence of the bile acid deoxycholate and consequently grows less well. Decreases cell survival in the presence of 20% deoxycholate (PubMed:25534751)
Knockout of the gene causes the accumulation of the intermediate product acetoin inside the bacterial cells
Fishes shown a severe reduction in the size of the pectoral fins
Mice show no obvious abnormality and no apparent survival disadvantage. However, they have delayed cerebellar histogenesis and exhibit motor discoordination at adult stages
Males are almost completely infertile, but otherwise have no visible phenotype. Sperm morphology is highly abnormal with deformed nuclei, detached acrosomes and an expanded perinuclear space. Defects are first apparent from the round spermatid stage and are associated with abnormal development of the manchette
Lack of sensitivity of ADL neurons to N,N-diethyl-meta-toluamide (DEET) with no effect on average pause length of worms following DEET exposure in contrast to wild-type worms which show a marked increase (PubMed:30258230). Does not affect AWC neuron activity in response to DEET (PubMed:30258230)
Not essential. Increased sensitivity to MMC and UV light; double ygbT-ruvA, ruvB or ruvC disruptions have no further phenotype suggesting Cas1 functions in the same DNA repair pathway (PubMed:21219465). Function in DNA repair also seems to require CRISPRs (PubMed:21219465). Cells elongate after 2 hours growth in MMC; they are even longer in double ygbT-ruvA, ruvB or ruvC disruptions, suggesting Cas1 may also function in chromosome segregation (PubMed:21219465). Loss of plasmid silencing (PubMed:21255106)
Leads to a hypo-filamentous phenotype
Decreases the levels of monounsaturated PC species and increased those of diunsaturated PC species. Does not significantly affect phosphatidylethanolamine, phosphatidylinositol, and phosphatidylserine profiles
Loss of seedling growth inhibition in response to the pathogen-associated molecular pattern (PAMP) elf18 and increased susceptibility to phytopathogenic bacteria
Cells sporulate poorly at 48 degrees Celsius
Cells lacking this gene accumulate aklanonic acid methyl ester
Worms show normal dorsal D (DD) GABAergic motor neurons rewiring but show larval lethality. Worms lacking both myrf-1 and myrf-2 display defective DD neurons rewiring
Defective gonad distal tip cell (DTC) migration whereby DTCs migrate towards the midbody of the hermaphrodite on the ventral side rather than the dorsal side of the body resulting in ventrally located gonad arms. Double knockout with mig-38 RNAi results in failed gonad DTC migration to the midbody of the hermaphrodite
Plants display a strong reduction of anthocyanin content on the adaxial side of rosette leaves, a slight reduction onf the abaxial side, and extra cells between cortical and epidermal layers in roots
Does not affect boron tolerance (PubMed:19414602). Impairs methylammonium (MA) transport and toxicity (PubMed:24707045)
Mutant is unable to grow on choline, GB and DMG as sole carbon or nitrogen sources (PubMed:17951379). Mutants that lack this gene are unable to induce plcH and pchP in media containing GB or choline and in phosphatidylcholine-rich environments, such as lung surfactant or mouse lung lavage fluid (PubMed:19103776)
Deregulates heterochromatin silencing
Deletion mutant looses the capacity to lyse macrophages, indicating the absence of a functional T3SS
Cells lacking this gene lose the ability to utilize ethanol as the sole growth substrate
Cell fate decisions disrupted, protein localization altered and neuron translocation disrupted. Defective tail development in males. Defective in egg laying in hermaphrodites. Nuclear localization of wrm-1 and lit-1 appears disrupted. Similar to tau-induced unc phenotype. Deviations in vulval precursor cell fate are observed when knocked down in conjunction with cwn-1 and egl-20. Bivulval phenotype when accompanied by mom-2 and/or cwn-2 knockdowns. Increase in ectopic synaptic vesicle puncta
Impairs the production of norsolorinic acid, as well as of the four major forms of aflatoxin: AFB1, AFB2, AFG1 and AFG2 (PubMed:7592391, PubMed:7565588)
Increases pexophagy (PubMed:33530609). Sensitive to hydrogen peroxide, and histidine starvation (induced by amitrole) (PubMed:33530609). Abnormal sexual development; decreases the number of perithecia produced and enhances the growth of aerial mycelium, the amount of mature spores formed is decreased (PubMed:33530609)
Hypersensitive to cell wall-perturbing agent calcofluor white (CFW) at 37 degrees Celsius. A similar phenotype is observed at 30 degrees Celsius, although the severity is decreased. Decreased expression of genes contributing to cell wall organization during vegetative growth
Alters embryonic vab-7 expression pattern
Disruption of tatA affects the correct localization of multiple enzymes whose precursors bear twin arginine transfer peptides. Export is completely blocked when both tatA and tatE are inactivated
Mice display embryonic lethality when homozygous. Heterozygotes display decreased protein levels, decreased glycogen accumulation and glycogen synthase activity, reduced insulin-stimulated glycogen synthesis and progressive age-dependent glucose intolerance. When Ppp1r3c is silenced in adults, they display decreased PP1 activity and glycogen accumulation, increased phosphorylation of glycogen phosphorylase, increased GLUT1 levels, increased glucose uptake and increased glycogen degradation
No visible phenotype. Mice are viable and fertile, and do not show any major behavioral defects. In developing cerebellum, migration of granule cells is impaired. Granule cells can form normal cell processes, but the movement of the nucleus seems to be impaired
Reduced effect of ABA on seed germination and postgermination growth and increased number of open stomata
Essential for growth, it can be disrupted once one of the components of the corresponding BsuMI restriction endonuclease complex (AC O34303, O34885, O35025, YdjA, YdiS and YdiR respectively) has been disrupted (PubMed:11751814). Triple deletions ydiO-ydiP-ydiR, ydiO-ydiP-ydiS and ydiO-ydiP-ydjA lead to loss of susceptibility to MspJI, which only digests C-methylated DNA (PubMed:32324221)
Inactivation increases the susceptibility of bacteria to a number of antibiotics that inhibit peptidoglycan biosynthesis. Increases the susceptibility to cycloserine, bacitracin, and a wide spectrum of beta-lactam antibiotics. Does not affect susceptibility to fosfomycin, valinomycin, tetracycline, chloramphenicol, gentamicin or quinolones
Severe telomere deprotection accompanied by a rapid onset of developmental defects and sterility. The large majority of plants have grossly distorted floral phyllotaxy with an irregular branching pattern and fasciated (thick and broad) main and lateral stems and siliques. Although most mutants produce an influorescence bolt, this structure is highly variable in size, ranging from very short to wild-type. Flowers and siliques are often fused, and seed yield is typically reduced to 10% of wild-type. The germination efficiency of the few seeds that could be recovered was extremely low. Telomeric and subtelomeric tracts are dramatically eroded, and chromosome ends exhibit increased G overhangs, recombination, and end-to-end fusions
Hypersensitivity to DNA-damaging agents including UVB, gamma-radiation, aphidicolin, ionizing radiation and hydroxyurea (HU) (PubMed:19619159, PubMed:19619158). Defective in cell-cycle G2/M arrest in response to DNA damage (PubMed:19619159, PubMed:19619158). Reversed extreme hypersensitivity to aluminum (Al) of the mutant als3-1, including Al-dependent terminal differentiation of the root tip and transition to endoreduplication. Increased tolerance to Al (PubMed:28556304)
The knockout mice show largely skewed ratios of homozygous knockout pups versus heterozygous and wild-type pups. However knockout animals do not present with any obvious phenotype, only subtle changes, such as reduced weight of brains and body, as well as significantly increased abundance of circulating Man8GlcNAc2 and Man9GlcNAc2 in the plasma
No effect on alternative splicing, due to the redundancy with SCL30A. Scl33 and scl30a double mutant shows altered splicing
Mice are viable and fertile without gross morphological abnormalities but display hyperchromic anemia in animals suffering from iron deficiency (PubMed:11726526). Dramatically altered response to diet-induced iron deficiency shifting from an adaptive decrease in red blood cells (RBCs) volume and intracellular hemoglobin content to an increased production of abnormally dense red blood cells (RBCs) with decreasing red cell counts (PubMed:11726526). The decrease in RBC number is the result of increased apoptosis of erythroid precursors (PubMed:11726526). Diminished levels of phosphorylated EIF2S1 in bone marrow-derived macrophages (BMDMs) (PubMed:17932563). Impaired maturation of BMDMs and blunted inflammatory response to LPS with a reduced cytokine production. Impaired phagocytosis of senescent RBCs by macrophages, resulting in a lower phagocytosis index and lower percentage of macrophages with ingested RBC (PubMed:17932563)
Leads to the accumulation of 4-methyl fecosterol and 4,4-dimethyl fecosterol
Homozygous mutants develop more slowly and die at a late pupal stage. Zygotic mutants do not have obvious patterning defects during embryonic or larval development but cells undergo apoptosis when surrounded by wild-type cells in the wing disk epithelium
Stomatal closing and reduced wilting during drought due to abscisic acid-hypersensitivity in early abscisic acid signaling. Abscisic acid-hypersensitive cytosolic calcium increases in guard cells
Mice neonates exhibit growth retardation dying within 1 month after birth. Show head deformation and situs invertus (heart apex, stomach, liver or spleen). Display lung lobular structures deterioration and collapsed alveolar spaces. Show mucosal congestion in paranasal cavities. Show loss of ciliary motility and axonemal outer and inner dynein arm (IDA and ODA, respectively) components without disruption of ciliogenesis
Mutants cannot secrete EsxA. Deletion also affects the production of several Ess factors
Enhanced thiol accumulation and arsenic tolerance. Mutation can be complemented by overexpression of PAF2
RNAi-mediated knockdown causes severe defects in the ALA neuron in young adults, and when RNAi is begun embryonically, some individuals lack a detectable ALA neuron
Slight decrease in number of lateral roots
Inappropriate morphogenesis of larval mushroom body neurons with early-born neurons adopting the fate of late-born neurons from the same lineage (PubMed:17055440). Malformed eyes and head capsules due to defects in eye progenitor cells (PubMed:20412771). RNAi-mediated knockdown in adult cyst stem cells and early cyst cells results in the appearance of cells resembling ovarian follicle cells throughout the testis (PubMed:25453558). RNAi-mediated knockdown in adult cyst stem cells results in loss of expression of the male-specific isoform of transcription factor dsx and leads to male sterility (PubMed:29389999). RNAi-mediated knockdown in imaginal wing disks results in decreased levels of nuclear actin (PubMed:26021350). RNAi-mediated knockdown in adult ovary somatic stem cells results in ovaries which are morphologically indistinguishable from the wild-type while ectopic expression in the adult ovary is sufficient to induce male fate in somatic cells (PubMed:26811385)
Shows altered cell wall composition with a significant decrease in wall mannoproteins, and reduced virulence in a mouse model of hematogenously disseminated candidiasis (HDC) and using reconstituted human epithelium (RHE)
In embryos, M12 position is closer to the ventral nerve cord and situated ventral to muscle 13 (M13) and external to muscle 6/7 (PubMed:20504957). The longitudinal orientation of M12 is also oblique probably due to an alteration in the muscle attachment sites (PubMed:20504957). Also displays a reduced number of synaptic sites on M12. No effect on muscle fiber size (PubMed:20504957). RNAi-mediated knockdown results in the fusion of the costal vein with the L1 vein in the developing wing, producing an adult wing that has a continuous wing margin with no separation between the end of the costal and L1 veins (PubMed:17028348). The medial and distal regions of the costal vein are also fused (PubMed:17028348). Thickening of the costal vein often occurs, and sometimes spans the region between the costal and subcostal veins (PubMed:17028348)
Male mutants are infertile (PubMed:31242413, PubMed:30760716). They have smaller-than-normal testes with no sperm (PubMed:31242413, PubMed:30760716). Female mutants exhibit a fertility with 40% reduction in litter size compared to wild-type females. They show reduced follicle formation (PubMed:30760716, PubMed:32845237). Mutant oocytes show a delay in prophase I progression with the majority of cells at zygotene stage in 17.5 days post-coitum (dpc) females (PubMed:32845237)
Dwarfism and sterile flowers when homozygous and semi-sterility when heterozygous under normal growth conditions. Reduced inhibition of hypocotyl elongation under continuous red light
No effect on normal adhesion of male (minus) gametes and female (plus) gametes, but the gametes fail to fuse and to give rise to quadriflagellated zygotes
Lethal, due to defects in cell proliferation and migration, leading to defects in the development of the embryonic lung, gastrointestinal tract, oligodendrocytes and Leydig cells
Cells fail to synthesize flagellin protein and grow as long filaments. They do not respond to attractants. CheC mutants showed overmethylation of the MCPs compared with wild-type strain
Mutants do not synthesize TDP-Fuc4NAc and enterobacterial common antigen (ECA)
No visible phenotype under normal growth conditions (PubMed:21418353, PubMed:28004282, PubMed:26408532). The double mutants hsp70-1 and hsp70-4 exhibit accelerated bolting, flowering, and branching, small round shape and flat leaf blades, thin stems and short siliques (PubMed:28004282). The double mutants hsp70-1 and hsp70-4 exhibit reduced tolerance to abiotic stresses, such as heat, cold, salt and osmotic shock (PubMed:28004282)
Does not lead to any change in metabolic profile of A.oligospora grown on PDB
Severe decrease in the number of sporozoites in the mosquito salivary gland (PubMed:26796412). Normal asexual stage in mouse erythrocytes and normal exflagellation of male gametocytes (PubMed:26796412)
Strong decrease in root and shoot biomass and Pi content. 25-fold reduction in Pi transfer from roots to shoots
Essential for growth, it cannot be disrupted. One group found this gene can be disrupted in a relA deletion strain (PubMed:17360576). Another group has found that it cannot be disrupted in a relA deletion strain, in agreement with data from E.coli (PubMed:18456812) (RelA phosphorylates GTP to ppGpp)
At pH 6 and at low Na(+) concentrations, deletion mutant grows slower than the wild type and its Na(+) dependent transport of glutamate and proline is markedly inhibited. However, when grown on these substrates at higher pH (7.5), mutant does not show any specific phenotype. A mutant devoid of both nhaA and nhaB is extremely sensitive to Na(+) and Li(+) at all pH values, and membranes prepared from this strain show no Na(+)/H(+) antiporter activity (PubMed:8093613). A mutant lacking this gene can grow in the presence of 0.6 M LiCl, but a mutant lacking both nhaA and nhaB cannot grow in the presence of 30 mM LiCl (PubMed:8019504)
Non viable, sterile dwarf plants with short, highly branched roots
Loss of bilateral symmetry and reduced number of cells in the center of the root, resulting in roots with only single xylem and phloem poles and defect in lateral root formation
Seedling lethal due to a lack of RuBisCO
TPCN1 and TPCN2 double knockouts are viable, fertile, have no obvious morphological abnormalities, and no obvious behavioral defects. After fasting for 3 days, they are less active and endurance performance is reduced by 8.3 fold in contrast to wild-type littermates that show no changes. Two days after re-introduction of food, mutants regain endurance and become as active as before fasting
Both female and male Cldn2-knockout mice are similarly hypercalciuric compared to wild-type littermates. Cldn2-null mice are hypercalciuric due to a primary defect in renal tubule calcium transport and develop papillary nephrocalcinosis. Cldn2-null mice are also found to have increased net intestinal calcium absorption, but reduced paracellular calcium permeability in the colon, suggesting reduced intestinal calcium secretion
Leads to strong defects in host cell damage in a model of human oral epithelial cells. Exhibits reduced survival following co-incubation with a human macrophage cell line and causes more severe kidney pathology following intravenous murine infection. Leads also to higher levels of interleukin-1 beta (IL1B), following incubation with murine macrophages
Impairs the production of pyranterreones
Shows significant decrease in total cellular reactive oxygen species (ROS) and in podosome formation
At 0.3 M NaCl up-regulation of 1 gene and down-regulation of 6 genes was observed; a double cnu-hha deletion up-regulated 134 and down-regulated 5 genes, most of which are thought to have been acquired horizontally and are also up-regulated in double hns-stpA deletions (PubMed:23543115)
Slight reduction in rosette size, yellowish inflorescences and siliques and small chloroplasts with irregular morphology and no starch grains
Deletion of tehB leads to an increase in sensitivity both to tellurite and to the oxidizing agents cumene hydroperoxide, tert-butyl hydroperoxide and hydrogen peroxide. The tehB mutant additionally shows a significantly reduced ability to utilize free heme as well as several heme-containing moieties including heme-human serum albumin, hemoglobin and hemoglobin-haptoglobin, to support aerobic growth. Virulence of the mutant strain is reduced compared to the wild-type strain in the infant rat
Embryos display dorsoventral patterning defects analogous to the one associated with Bmp signal failure
Severe reduced growth, reduced number of starch granules, altered structure of starch granules
Deletion mutant cannot grow in minimal medium. Mutant fails to persist in the squid
Reduces growth on L-arabinose, xylitol, arabinan, Arabic gum, arabinogalactan and apple pectin, and shows poor growth on L-arabitol
RNAi-mediated knockdown in the wing results in planar cell polarity (PCP) defects including misorientation of hairs, multiple wing hairs and defective venation
Cells do not grow in low DIC levels. Cells lose carboxysomes when grown under low DIC conditions. Accumulates intracellular DIC normally, poor CO(2) fixation
Cells show much lower levels of proteolytic activity than the wild-type, has a longer lag phase and a slightly lower growth rate and a decreased final density. It also shows attenuated virulence, deficiency in gliding motility and enhanced biofilm formation. Quantitative analysis of the thiol groups of periplasmic proteins shows that TlpB is required for the reduction of these groups
Reduced plant viability on extended exposure to darkness and a reduced reproductive performance under normal growth conditions
Mice show significant axon guidance errors in a variety of pathways, including corticofugal, callosal and thalamocortical tracts. Mice double-deficient in SLIT1 and SLIT2 show retinal axon guidance defects and a disorganized lateral olfactory tract (LOT)
Mice show no overt differences in body weight, but males display a substantial decrease in the size and weight of the testis and show reduced fertility. Males show decreased epididymal sperm counts, sperm cell motility, and sperm velocity and a marked increase in cell apoptosis in the testis
Males exhibit significantly impaired sperm tail structure and subfertility (PubMed:33440775). Defects in sperm flagellar differentiation leads to an abnormal annulus and disorganization of the midpiece-principal piece junction (PubMed:33440775)
Late-flowering in both long and short days with an increased number of rosette leaves at bolting stage (PubMed:15377760, PubMed:33107825, PubMed:32392578). Brassinosteroid-insensitive phenotype (PubMed:18467490). Hyper-methylated genes with accumulation of H3K27me3 histone marks, but drastic reduction in H3K27me1 (PubMed:33107825). Enhanced dormancy associated with increased abscisic acid (ABA) levels as well as reduced expression of CYP707A1 and CYP707A3 (due to higher H3K27me3 content at their loci), genes involved in ABA catabolism, during seed development and germination (PubMed:33037128). Suppressed expression of PIN genes (e.g. PIN1, PIN3 and PIN7) due to increased levels of H3K27me3 at their loci and leading to altered lateral root formation and elongation (PubMed:30267471). Impaired systemic acquired resistance (SAR) toward pathogenic bacteria (e.g. Pseudomonas syringae pv tomato DC3000 (avrPto)) (PubMed:32392578). Lost ability of dehydroabietinal-dependent (DA, a diterpenoid tricyclic diterpene) to trigger flowering and systemic acquired resistance (SAR) (PubMed:32392578). Elevated H3K27me3 levels at HSFA2 locus associated with a reduced expression of HSFA2 and altered thermo-responsiveness and thermomemory of flowering (PubMed:30778176). Plants lacking both REF6 and ELF6 have several growth defects, such as increased number of petals, reduced silique length, embryos with patterning defects, and pleiotropic defects in leaf morphology, such as serrations and downward curling; these defects are caused by epimutations arising in offspring lineage due to a lack of H3K27me3 resetting during sexual reproduction (PubMed:33107825). Plants missing both EEN and REF6/EIN6 (e.g. ref6-1 een-2 and ein6-1 een-1), as well as double mutants ref6-1 ino80-1 and ref6-1 arp5-1, are insensitive to ethylene (ET) and exhibit reduced levels of EIN2 associated with a shift of the chromatin landscape to a repressive state at its locus (e.g. H3K27me3 and H2A.Z) (PubMed:31418686)
Cells lacking this gene display impaired growth (PubMed:12657046). A double darT-darG deletion shows no change in growth in culture, upon infection of mice, or upon exposure to a variety of stresses (PubMed:32634279). Another group finds the double knockout gives a competitive advantage over wild-type cells in liquid culture growth experiments. Knock-down of darG expression leads to increased RecA expression, ADP-ribosylation of OriC and growth arrest (PubMed:34408320)
RNAi-mediated knockdown causes an increase in lifespan and a moderate increase in aak-2 phosphorylation (PubMed:24332851). RNAi-mediated knockdown in a rsks-1 mutant background reduces the formation of proximal germ cell tumors (PubMed:22278922). RNAi-mediated knockdown results in abnormally large oocytes (PubMed:19502484)
Mice exhibit growth retardation with lower birth weight and disproportionally small seminal vesicles and ventral prostate as well as decreased fertility in both male and female. However, IGFII expression is normal in embryos
RNAi-mediated knockdown results in embryonic lethality (PubMed:18765790, PubMed:19109417). RNAi-mediated knockdown results in defective chromosome segregation, premature spindle pole separation and incorrectly attached kinetochores (PubMed:18765790). In addition, knl-1 localization to the spindle-associated rod-shaped structures but not to kinetochores is lost during anaphase of meiosis I (PubMed:20729837). RNAi-mediated knockdown also results in abolished targeting of the spindly-like protein spdl-1 to the kinetochore (PubMed:18765790)
Mutants display a range of anxiety-related behaviors including reduced time spent in the central area of the open-field arena, reduced activity in lit areas of a light/dark transition test and prolonged latency to feeding in a novelty induced hypophagia test which assesses the drive to drink a sweetened milk solution
Blocks the production of ascochitine and its derivatives
No changes in the cell wall content
Mice are neonatal lethal. Mice lacking Tmem38a and Tmem38b show a weak heartbeat at E9.5 followed by loss of cardiomyocyte viability and embryonic lethality around 10.5 dpc
Severely growth-retarded phenotype and reduced chlorophyll and plastoquinone contents. Unable to germinate when homozygous
Cells lacking this gene grow more slowly than wild-type, are filamentous and under high-phosphate defective in stalk biogenesis. They are hypersensitive to a range of antibiotics. Cells do not grow at 37 degrees Celsius, or in 50 mM NaCl. Required for stationary phase survival. Depletion leads to increased levels of sigma-32
Replication in host erythrocytes is normal
No visible phenotype under normal growth conditions (PubMed:24237637, PubMed:27758894). Mutant plants have compromised systemic acquired resistance (SAR) (PubMed:27758894). Mutant seedlings accumulate increased levels of proline (PubMed:24237637)
Deletion prevents the activation of the light inducible promoters of carQ, crtI and carB
Strongly decreases the production of austinol and dehydroaustinol (PubMed:22329759)
Knockout mice have normal oligodentrocyte differentiation and develope structural and functional normal myelin up to early adulthood. However, aged knockout mice show a massive axon and myelin sheath degeneration in the spinal cord (PubMed:18815260). Knockout mice show delayed fur development and a cyclic alopecia (PubMed:21628453)
Enhanced drought tolerance, when associated with PHOT2 disruption
Mating heterozygous mice gives rise to Ptprs deficient mice at the expected Mendelian rate, but the pups are somewhat lighter than their littermates at birth and display strongly impaired weight gain (PubMed:10080191). After about three weeks, mutant mice weigh only 50 to 55% of normal littermates, possibly due to reduced Igf1 levels in blood serum (PubMed:10080191). Pups born after crossing Ptprs deficient mice display about 41% lethality during the first day after birth (PubMed:10080191). Adult mutants have a reduced overall brain size, with a dramatic decrease in the size of the olfactory bulb (PubMed:10080191). As a consequence, mutant mice have strongly impaired ability to perceive repellent smells (PubMed:10080191). Females are less often in estrus (PubMed:10080191). Besides, mutant mice display a decreased overall size of the pituitary glands; relative to the total size, the intermediary lobe is enlarged with a concomitant decrease in the size of the anterior and posterior lobes (PubMed:10080191). Likewise, the size of the hypothalamus is decreased (PubMed:10080191). No visible effect on the structure of the retina and the optic nerve (PubMed:15797710). Mutant mice show increased axon outgrowth from retinal ganglion cells after optic nerve transection (PubMed:15797710). Mutant mice display increased axon outgrowth after spinal cord injury (PubMed:19833921, PubMed:19780196). In aging mice, mossy fibers in the CA3C region of the hippocampus show increased sprouting (PubMed:22519304). No difference in mossy fiber sprouting is seen in the CA3A region of the hippocampus (PubMed:22519304). After kainate-induced seizures, mutant mice show increased mossy fiber sprouting in both the CA3C and the CA3A region of the hippocampus (PubMed:22519304). Mutant mice display a slight increase in dendrite length and dendrite spine density in pyramidal cells in the CA1 region of the hippocampus, and subtle changes in miniature AMPAR-mediated excitatory post-synaptic currents (PubMed:22519304). Dorsal root ganglion neurons from mutant mice show decreased stimulation of neurite outgrowth in response to the heparan sulfate proteoglycan GPC2 (PubMed:21454754). Cerebellar granule neurons and dorsal root ganglion neurons from mutant mice show decreased inhibition of neurite outgrowth in response to chondroitin sulfate proteoglycan (PubMed:19833921, PubMed:19780196, PubMed:21454754, PubMed:22406547). Sensory neurons show increased axon outgrowth after spinal cord crush injury (PubMed:19833921). After optic nerve crush injury, mutant mice show no increase in axon regeneration (PubMed:22406547). Combined disruption of Rtn4r, Rtn4rl1 and Ptprs increases axon regeneration after injury (PubMed:22406547)
Cells lacking this gene show an attenuated photoreactivation after treatment with UV-B irradiation
Mice display strikingly elevated levels of tyrosine phosphorylated, ubiquitinated proteins following TCR stimulation. They are prothrombotic and have shorter bleeding times, which is attributed to insufficient SYK dephosphorylation in platelets
Retains 20% 2-isopropylmalate synthase activity and grows in the absence of Leu; a double LEU1-LEU9 deletion has no 2-isopropylmalate synthase, does not grow in the absence of Leu
Slightly shortened inflorescence stem when grown at 25 degrees Celsius (PubMed:28499073). The double mutant zed1-6 zrk12-1 exhibits short inflorescence stem and autoimmunity symptoms when grown at 25 degrees Celsius (PubMed:28499073)
Produces only non-methylated glucosylceramides. Has a decreased hyphal growth rate
Increased root length and smaller cotyledons. Reduced root meristematic zone but longer cells in the differentiation zone
Lethal without exogenous carbon sources (PubMed:16326926). Reduced expression of plastid-encoded genes with plastid-encoded multimeric promoters (PEP) (PubMed:16326926, PubMed:31128276). Strongly reduced presence of both plastid- and nuclear-encoded soluble polypeptides and polypeptides associated with the thylakoid membrane in chloroplasts (PubMed:16326926). Albino plants unable to produce primary leaves white cotyledons that fails to accumulate chlorophyll (Chl) even in low light, thus leading to high nonphotochemical quenching (NPQ) (PubMed:16326926, PubMed:24272250). Abnormal chloroplasts which fail to contain grana thylakoids that are replaced by oval-shaped vesicles surrounded by plastoglobuli (PubMed:16326926). Starch accumulates only in old leaves (PubMed:16326926)
Null mutants display increased sensitivity to cadmium in the absence of GTT1 and GTT2. Null mutants also show growth defects on oleic acid-based medium, indicative of abnormal peroxisomal functions and altered expression of genes related to sulfur amino acid metabolism, and have low levels of reduced glutathione
Insertion mutant is unable to reduce selenate to selenium
Double knockout of Mterf1a and Mterf1b results in viable animals with no gross phenotype, and normal oxidative phosphorylation capacity. Steady-state mitochondrial DNA levels are normal. There are subtle effects on levels of mitochondrial transcripts: transcripts initiated at the light strand promoter and also situated downstream of the MTERF binding site are increased, levels of 7S RNA are reduced, while levels of other mitochondrial transcripts appear normal
Cells lacking this gene are hypersensitive to Co(2+) and Ni(2+) and accumulate these metals in the cytoplasm
SPRED2 knockout results in a dwarf phenotype characterized by reduced growth and body weight, shorter tibia length, and narrower growth plates as compared with wild-type mice. Mutant animals regularly develop kyphosis and scoliosis, and show craniofacial defects, splenomegaly, and cardiac hypertrophy with arrhythmias
Mutant is unable to grow on GlcNAc, while growth on glucose, fructose, xylose, mannose, sucrose or galactose is not impaired (PubMed:20487300). Mutant is insensitive to GlcNAc (PubMed:16925557, PubMed:20487300)
Replacement of endosperm starch by a water-soluble highly and randomly branched polysaccharide structure called phytoglycogen
Altered plant morphology, including epinastic (curved downward) cotyledons, hyponastic (curved up) leaves, and reduced palisade mesophyll cell size (PubMed:29915151). Reduced number of leaves at bolting and early flowering (PubMed:29915151). The double mutant seedlings icu11 and cp2 skip the vegetative phase, flower immediatly after germination and then die (PubMed:29915151)
Normal hypocotyls length
RNAi-mediated knockdown decreases invasion of human alveolar epithelial cells
Smaller plants and frequent morphological defects, including increased lateral root branching, aerial rosettes and multiple rosettes. No effect on photosystem II and linear photosynthetic electron transfer
Worms fail to complete meiosis, form a weak eggshell, fail to orient properly the first mitotic spindle and fail to undergo cytokinesis
Altered nuclear morphology. Plants lacking both CRWN1 and CRWN3 exhibit markedly smaller rosettes. Plants lacking CRWN1, CRWN3 and CRWN4 are extremely stunted and set few seed
RNAi-mediated knockdown by injection leads to strong resistance to B. thuringiensis-mediated killing
Deletion mutant is more sensitive to capreomycin, more resistant to rifampicin, and accumulates more ethidium bromide in the cell than the wild type
Excess symmetric divisions during stomata development leading to abnormal guard cells clusters formation. Reduced seeds set and low biomass. These phenotypes are complemented by MYB124
Deletion of the dppBCDF operon leads to reduced ability to utilize di/tripeptides as nitrogen source
Deletion mutant accumulates important amounts of DAT and is devoid of PAT. DAT only accumulates inside the cells and is not exported to the cell surface
During iron-replete conditions, partially derepresses synthesis of triacetylfusarinine C (TAFC) and uptake of iron resulting in increased cellular accumulation of both iron and ferricrocin (FC) (PubMed:18721228). Increases sensitivity to iron and oxidative stress (PubMed:18721228)
Plants have a lower leaf carotenoid and chlorophyll a and b content, and are impaired both in root cell division and in root cell elongation. Mutant rsr4-1 can be complemented by the addition of any of the vitamin B6 vitamers, except pyridoxal 5'-phosphate
Delayed growth rate
Mutants exhibit a delay in development characterized by a strong molting defect, resulting in a prolonged L1 stage followed by an arrest in development in the L2 stage in most animals (PubMed:25319259). There is increased expression of the heterochronic miRNAs, lin-4 and miR-48, in late L1 (PubMed:25319259). In addition, there is increased expression of the heterochronic miRNA let-7 at the L3 and L4 larval stages (PubMed:29880558). Seam cell shape and connectivity is severely abnormal during the molt stages (PubMed:22137474). Animals display a precocious alae phenotype, with the early formation of either full or partial alae in the adult cuticle (PubMed:25319259, PubMed:29880558). The precocious alae phenotype is suppressed in the double lin-42 and let-7 mutant and lin-42 and miR-48 mutant (PubMed:25319259). The quadruple lin-42, miR-48, miR-241 and let-7 mutant has a retarded phenotype at L4, with many animals having few full and partial alae or none (PubMed:25319259). The number of animals displaying a squat body statue, referred to as a dumpy phenotype, is increased, the incomplete alae formation defect is rescued and increased let-7 levels are reduced in a kin-20 RNAi-mediated knockdown mutant background (PubMed:29880558). RNAi-mediated knockdown leads to a severe hypodermal phenotype, premature execution of developmental events in vulval precursor cells, DTC and sex myoblasts (PubMed:16300753). Furthermore, seam cell terminal differentiation is only partially initiated at the L4 larval stage (PubMed:15691769). RNAi-mediated knockdown increases the survival rate and partially restores alae formation of let-7 n2853 mutants at 20 degrees Celsius (PubMed:15691769)
Loss of neural crest precursors. Also an increase in apoptosis and a decrease in cell proliferation in the neural fold
Cells lacking both icmt-1 and icmt-2 do not propagate cAMP waves in a sustained manner and fail to aggregate, affecting differentiation and development
Mutant accumulates lycopene and cannot produce neither flavuxanthin nor decaprenoxanthin
Mice are fertile, develop normally and exhibit no overt behavioral abnormalities. However, compared to heterozygous mice they lack expression of the glycosphingolipid isoglobotrihexosylceramide (iGb3) in the dorsal root ganglion
Female sterility. Only one third of the zygotic mutant embryos survive up to the first instar larval stage. These mutant larvae display a feeding defect most probably caused by a keyhole formation defect during proventriculus development. The feeding defect may result in larvae death by starvation. Zygotic mutant embryos display large holes in the head region and a variable spectrum of segment defects. In maternal and zygotic mutant embryos, epithelial tissues and organs are severely affected, the cuticle fails to form and extensive cell death occurs
Deletion results in impaired swimming motility
Morpholino Slc4a3 knockdown in fish embryos results in significantly shortened duration of heart systolic contraction and reduced Q-T intervals, in association with increased ventricular intracellular pH
Cells lacking this gene almost lose the ability to grow on 2SC as the sulfur source but are still able to grow on sulfate. Moreover, in contrast to wild type, they highly accumulate 2SC when grown on fumarate as the sulfur source. Addition of 2SC causes growth inhibition of the deletion mutant but not the wild type grown on sulfate as the sulfur source
Irregular root hair development that frequently abort, swell, or branch. Stronger phenotype when associated with LRX2 disruption; frequent rupture of root hairs soon after their initiation
Reduced primary root length. Reduced stomatal aperture
Females are viable but are sterile due to defects in double-strand break repair during gametogenesis. Males are not sterile and produce spermatozoa, but in much reduced quantity. Female ovaries are completely devoid of oocytes, and testes show a severe early proliferation defect of germ cells, causing a retarded development of only a fraction of seminiferous tubules that produce then apparently normal spermatozoa
Mice are viable and appear mostly normal (PubMed:31023925). Cortical neurons completely lack proton-activated chloride channel activity (PubMed:31023925). Neurons are partially but significantly protected from delayed cell death induced by 1-hour acid treatment (PubMed:31023925)
Abnormal wing hair polarity and in many wing cells forming two or more hairs instead of the normal single hair
Morpholino knockdown results in ciliopathy-related phenotypes, such as curved bodies, hydrocephalus, abnormal otolith, randomized left-right asymmetry, and pronephric cysts, accompanied with paralyzed pronephric cilia
Growth delay late in embryogenesis and perinatal lethality (PubMed:16810678). Heterozygous mice show decreased neonatal viability. Heterozygous mice display glomerulopathy, proteinuria and impaired kidney function. Glomerulopathy may be associated with anemia (PubMed:19142019). Heterozygous mutant also show increased extramedullary hematopoiesis and susceptibility to lymphomas, with defects in hematopoietic stem cell differentiation (PubMed:19137022)
Increased drought and salt stress sensitivity. Delayed seed germination and reduced cotyledon opening and greening in presence of abscisic acid
Leads to the loss of apicidin F production (PubMed:25058475)
Mice give birth to significantly smaller litter sizes (PubMed:28930672). Moreover, about a third of the homozygous newborn mice die before weaning and only a few survive to adulthood (PubMed:28930672). Strongly reduced 5-hydroxymethylcytosine (5hmC) levels in zygotes (PubMed:28930672)
Causes increased sensitivity to osmotic stress
Defects result in variegated plants that have leaves consisting of normal green and also white or yellow sectors in which chloroplast development is retarded or disrupted (PubMed:15340011, PubMed:25768119). Mutant plants exhibit severe editing defects in chloroplastic transcripts (PubMed:25768119)
Mice are physically indistinguishable from wild-type mice but display strongly reduced transileal transport of taurocholate. Moreover, the bile acid pool size is significantly reduced, but fecal bile acid excretion is not elevated
PIK3CG-null mice are viable and fertile, and display immunological abnormalities when the immune system is stressed. There is reduced T(reg) cells amount, reduced levels of IgG, enhanced IL12 production in macrophages, and increased T-cell infiltration in the gut (PubMed:31554793). Leukocyte migration in response to chemotactic agents and towards the site of inflammation, as well as neutrophil oxidative burst in response to chemotactic agents are decreased. Mutant mice show reduced thymocyte survival, defective T lymphocyte activation, and are protected from leukocyte infiltration of synovia in a model of rheumatoid arthritis. Dendritic cell showed reduced response to chemokines and migration to draining lymph nodes under inflammatory conditions. Platelets have defects in thrombus formation. PIK3CG-null mice show increased cardiac contractility, and display myocardial damage after transverse aortic constriction
Morpholino knockdown blocks differentiation of the neural plate border (NPB)
Cells lacking this gene have an unchanged spontaneous mutation frequency, even in triple mutT/yjhB/yvcI disruptions
Decreased leaf photosynthetic activity, reduced accumulation of plastid rRNAs (both mature and immature) in roots and altered root plastid gene expression leading to small plants with pale-green leaves (PubMed:29367414, PubMed:32143506). Abnormal intracellular distribution of plastids (PubMed:29367414). Altered fatty acid composition of membrane lipids leading to an increased oleic acid (18:1) level at the expense of alpha-linolenic acid (18:3) level among total fatty acids, especially in root tissues (Ref.6). Aberrant lateral root phenotype that lack stem cells and associated with disrupted stem cell patterning and changes in expression of several root stem cell regulators (Ref.6, PubMed:12581310, PubMed:29367414, PubMed:32143506). Exhibits a sucrose-conditional defect in the patterning of distal elements in the primary and lateral roots meristems (PubMed:12581310, PubMed:29367414). Abnormal symplasmic connectivity between primary root and lateral root primordia (PubMed:29367414). The double mutant rfc3-2 sprt2-1 is rescued for primary and lateral root development as well as for plastid rRNA level compared to the single mutant rfc3-2 (PubMed:32143506)
Decreases resistance to doxorubicin
Mice are deaf, due to defects in hair cell bundles in the cochlea (PubMed:21436032). They develop circling behavior, probably due to balance problems (PubMed:21436032). Reduced expression of Ift20, Ift52 and Ift57 in the ciliary region of photoreceptor cells (PubMed:31637240)
No visible phenotype. Lower content of seed mucilage
Deletion of the gene confers resistance to arylamide compounds
RNAi knockdown of both ceeh-1 and ceeh-2 results in the accumulation of 9,10-EpOME and 12,13-EpOME
Disruption of embryonic polarity and mesoderm differentiation, likely resulting from a primary defect in Wnt signaling
Gametophyte defective when both XPO1A and XPO1B are disrupted. Abnormal pollen germination and tube growth, impaired female gametophyte development and embryo lethal
Deletion of the gene leads to a substantially increased capacity of human neutrophils to phagocytose opsonized S.aureus. Inactivation renders the cell susceptible to podophages
Cells display abnormal regulation of gene expression and aberrant timing of development. Colonies growing on a bacterial lawn are smaller, have a rough edge and are surrounded by satellite fruiting bodies
Plants display fruits with orange color due to an accumulation of prolycopene, explaining the tangerine mutant name
Defective in pollen germination and pollen tube growth
Cells lacking this gene are auxotrophic for urate. Growth defect can be complemented by introduction of XCC0279 from X.campestris or Mvan_5278 from M.vanbaalenii
Mutant embryos enclose normally and initiate elongation without obvious morphological abnormalities, yet at a slower rate than the wild type. Elongation is consistently arrested at the 2-3-fold stage, accompanied by the formation of a large vacuole in the posterior region
Separated male germ unit (MGU) with all nuclei separated from each other making a wide triangular figure
Following infection of the vector mosquito, the number and size of oocysts in midgut are normal; however, oocysts display a highly vacuolated structure and fail to produce sporozoites
Leads to a multidrug-resistance phenotype, including the azoles (itraconazole, voriconazole and posaconazole), as well as the salvage therapeutic amphotericin B and terbinafine, an agent used in the treatment of chronic and allergic disease (PubMed:31969561). Leads also to transcriptional derepression of cdr1B and its over-production (PubMed:31969561). Results also in a notable increase in the immunogenic properties of Aspergillus fumigatus, but does not result in loss of virulence (PubMed:31969561)
Impaired sensitivity to peptidoglycans (PGNs) leading to higher susceptibility to infection with virulent Pseudomonas syringae pv. tomato DC3000
Dwarf plants with erect leaves. Reduced organ sizes due to decreased cell numbers resulting from reduced cell division rate
Deletion mutant loses the ability to grow on shikimate as well as to consume extracellular shikimate (PubMed:25406451). Deletion does not affect growth on quinate, protocatechuate, 4-hydroxybenzoate, vanillate and benzoate (PubMed:25406451)
Leads to reduced growth rate on plates with D-glucose or D-galactose, decreases the expression of mycoparasitism-associated genes, and impairs conidiation (PubMed:23826217)
Viable, but with a reduced brood size (PubMed:25987605). Reduced bub-1 expression and localization at the kinetochore which may lead to the delay in the onset of anaphase during embryogenesis (PubMed:25987605). Defective synapsis with increased numbers of nuclei that contain asymmetrically aligned (clustered) chromosomes (PubMed:26483555). RNAi-mediated knockdown results in reduced survival as compared to wild-type animals in anoxic conditions (PubMed:18248670)
Mice show primary ciliary dyskinesia (PCD) like symptoms including situs inversus and hydrocephalus. Hydrocephalus starts at postnatal day 5 (P5) and becomes more pronounced as the mice mature, eventually leading to mortality between P14-P21. Development of hydrocephalus is associated with severe impairment of cilia motility on ependymal cells lining the ventricles of the brain
Plants with short petioles and round leaves. Altered polar elongation of leaf cells (PubMed:9694802). The double mutant plants cyp90c1 and cyp90d1 exhibit a characteristic brassinosteroid-deficient dwarf phenotype (PubMed:15703058)
Anterior displacement of the nerve ring in L1 stage mutant animals (PubMed:19855022). Defective ALM, BDU, CAN and QR neuroblast migration and irregular CP and CAN axon growth and guidance (PubMed:16109397). Double knockout with cfz-2 results in enhanced CAN migration defects, but the same QR neuroblast migration defects as the single cfz-2 knockout alone (PubMed:16109397). Double knockout with cwn-1 results in ALM, CAN and HSN migration defects (PubMed:16109397, PubMed:16516839). Triple knockout with cwn-1 and cfz-2 results in enhanced neuronal cell migratory defects (PubMed:16109397)
No visible phenotype. Parasites grow at normal rates in vitro
Cells laking this gene are unable to produce indolmycenate
No visible phenotype under normal growth condition, but decreased accumulation of iron in the root when grown under high iron concentration
No visible phenotype (PubMed:12370307). However, adult mutant animals show selective impairment in the formation of spatial long-term memory and long-term potentiation. They exhibit a reduced number of hippocampal adult-born neurons compared to wild-type littermates (PubMed:22586092). Simultaneous knockout of NFATC3 and NFATC4 results in embryonic death soon after 10.5 dpc. Embryos appear normal at 9.5 dpc. At 10.5 dpc, they exhibit defects in cardiac development, including dilated thin translucent hearts, pericardial effusion and anemia. Despite a mild generalized developmental delay, the heads, tails, and limb buds are well developed. By 11.5 dpc, mutant embryos are either necrotic or resorbed (PubMed:12750314)
No visible phenotype when grown under standard conditions
Deletion abrogates the production of EsxB and affects the secretion, but not the production, of EsxA and EsxC
Dwarf. 20% of the wild-type ascorbate level, due to the partial redundancy with VTC5. Vtc2 and vtc5 double mutants show growth arrest immediately upon germination and are not viable
Perinatal lethality, possibly due abnormal cardiovascular development. Osteoblasts show an aberrant activation of the Wnt signaling pathway
Defective in DNA transformation
Viable, although the brood size is reduced and the life cycle is retarded (at 20 degrees Celsius, worms take 24 hours longer to reach the gravid adult stage). The smaller brood size may result from replicative stress, which is often associated with a persistence of unrepaired DNA damage during development. Mutants show defective crossover interference with all double-strand breaks becoming crossovers and a compromised homeostasis after ionizing radiation. Synthetic lethality in worms lacking both rtel-1 and him-6, with a marked increase in the number of foci representing unresolved recombination intermediates
Mice are viable and fertile without any abnormal phenotypic features in normal conditions but show transient hemoglobin deficit after hemorrhage and exhibit a delay in recovery from blood loss. They also fail to suppress hepcidin rapidly
Shrunken non viable seeds due to arrested embryo development when homozygous (PubMed:31455787). Alteration in cuticular waxes (PubMed:31455787, PubMed:31941670). Decreased production wax with dramatically fewer alkanes (PubMed:31941670)
Male mice are infertile due to dysfunctional spermatozoa, which exhibit unregulated ATP production, disordered mitochondrial sheath formation, abnormal mitochondrial morphology, and defective sperm tail (PubMed:30662012, PubMed:33536340). Spermatozoa cannot transit the uterotubal junction due to reduced motility leading to male infertility (PubMed:33536340). Spermatids exhibit abnormal arrangement of crescent-like mitochondria, which causes a disorganization of the mitochondrial sheath (PubMed:33536340)
Homozygous knockout mice die within 24 hours of birth (PubMed:1594045). They are under weight, respire abnormally and show rapidly progressing cyanosis (PubMed:1594045). Feeding and movement are also decreased in these mice (PubMed:1594045). Macrophages accumulating glucosylceramides in tubular lysosomal deposits are found in liver (in Kupffer cells), bone marrow, spleen and brain (PubMed:1594045). Hematopoietic stem cells conditional knockout of GBA1, leads to widespread and organ-specific dysfunction of immune cells. Thymus shows the earliest alteration with features of impaired T-cell maturation, aberrant B-cell recruitment, enhanced antigen presentation, and impaired egress of mature thymocytes (PubMed:22665763)
In minimal medium, cells lacking this gene grow normally with MSO, but growth is inhibited by MSX. In rich medium, growth of cells lacking this gene are partially inhibited by MSX, only when its concentration is at least 50 uM
Both loss- and gain-of-function mutants exhibit neurons within the pCC/MP2 pathway that incorrectly project across the midline. Loss of Abl disrupts cell migration and cell shape changes during dorsal closure
Deregulated expression of glutaredoxins GRX480, GRXS13 and thioredoxin TRX-h5 leading to enhanced susceptibility to fungal infection (e.g. B.cinerea) (PubMed:24451981). Increased sensitivity to abscisic acid (ABA), drought, and salt (NaCl) stress. Reduced induction of ABR1, but reduced repression of RD29A, RD29B, and COR15A in response to abiotic stresses (PubMed:26961720)
Impairs the reduction of the C3-C4 doucle bond in the heptaketide monomer
Mutants are unable to use toluene as the sole carbon source, are incapable of converting indole to indigo and do not have catechol dioxygenase activity
Mutants are born with the expected Mendelian frequency, but fail to thrive and most die within three weeks after birth. Most mutants are runted, and have atrophied thymuses with severe thymocyte deficiency. Mutants that survive to weaning age are most often runted, and about half of them show lymphopenia. They display a major reduction in the number of pre-B and immature B-cell classes in bone marrow with a wide variation between individuals, but essentially normal mature B-cell levels. Mutants are highly susceptible to infections. T-cells show impaired directional migration in response to the chemokines Cxcl12 or Ccl21 (PubMed:22810897). Abl1 and Abl2 double knockout mice have T-cells that show reduced chemokinesis and cell polarization in response to Icam1, Cxcl12 and Ccl21, subsequent Rap1 and Rac1 activation is reduced (PubMed:22810897). Additionally T-cells show decreased Cxcl12-induced tyrosine phosphorylation of Nedd9/Hef1 and reduced homing of T-cells to lymph nodes and immuno-challenged tissues (PubMed:22810897)
Altered root hair development and reduced hair length
Abolishes the production of calbistrin and of the related metabolites decumbenones, whereas production of unrelated compounds, such as andrastin C, remains unaffected (PubMed:30598828). Results in a significant down-regulation of the expression of the calbistrin biosynthesis cluster genes calA, calB and calF (PubMed:30598828)
RNAi-mediated knockdown results in an arrest at approximately 50-cell embryonic stage. The phenotype is more severe when done in a cdk7(ax224) mutant background where the embryonic arrest occurs at the 1-cell stage due to an arrest in early meiosis
Plants do not show root phenotype alteration
Mutant mice are characterized by infertility in both sexes as well as complete disruption of synapsis initiation resulting in meiotic arrest. Initiation of meiotic recombination appears normal, but its progression is severely impaired resulting in complete absence of Mlh1 foci
Cells lacking this gene grow slowly in zinc-deficient medium; this effect is suppressed upon addition of exogenous Zn(2+). Growth is slower yet in a double knockout with YciC. Disruption results in low transformability
Floral stems lacking the epicuticular wax layer, distorted leaf trichomes, and under-developed siliques with shrunked and non-viable seeds (PubMed:19865480). Strong reduction of the activity of iron-sulfur proteins such as aconitase and succinate dehydrogenase (PubMed:19865480)
Rarb and Rarg, but not Rarb and Rara, double null mice exhibit growth retardation 3 weeks after birth. Defects are found in the growth plates with deficiency in cartilage. Growth retardation was noticable in limb sketal elements such as femurs. Early lethality and male sterility due to squamous metaplasia of the seminal vesicles and prostate are also observed. Isoform 2 mutants appear normal
Deficient mice are viable, fertile and display normal physiological behaviors (PubMed:20159446, PubMed:20147530). Deficient mice show 80-90% reductions in brain 2-AG as well as the downstream product arachidonic acid (AA), in particular in neurons and astrocytes (PubMed:20159446, PubMed:20147530, PubMed:26779719, PubMed:25466252). The endocannabinoid-mediated retrograde synaptic suppression of neurotransmitter release is absent in the cerebellum, hippocampus, and striatum of knockout mice (PubMed:20159446, PubMed:20147530). In addition, reduction in adult neurogenesis is observed in deficient mice in both the hippocampus and the subventricular zone (PubMed:20147530). DAGLA deletion increases anxiety-like and depressive behaviors (PubMed:25466252). Reduction in LPS-stimulated neuroinflammation is also observed in knockout mice (PubMed:26779719)
Mice show high embryonic lethality around day 11 dpc (PubMed:9329978). Surviving mice show a 2-3-fold increase in processed Srebpf2 protein in liver nuclei, 3-fold increase in cholesterol synthesis and 50% increase in cholesterol content of the liver (PubMed:9329978)
Mice lacking isoform SREBP-1A are resistant to pro-inflammatory toxic shock (PubMed:21531336). Macrophages challenged with bacterial lipopolysaccharide fail to activate lipogenesis as well as hallmarks of inflammasome functions, activation of caspase-1 and secretion of IL1B (PubMed:21531336)
Mice lacking isoform SREBP-1C show a lack of up-regulation of several lipogenic enzymes in response to high insulin or LXR activation
Mutants show reduced aromatic amino acids transport and are resistant to p-fluorophenylalanine, beta-2-thienylalanine and 5-methyltryptophan
Dwarf phenotype due to gibberellin-deficient mutant, displaying reduced internode lengths, foreshortened broad leaves, and unbranched tassel
Accumulation of neutral lipid droplets with marked increase in absolute triacylglycerol levels in leaf mesophyll cells
Greatly decreased expression of aprA, hcnA and phlA (PubMed:10570200, PubMed:11807065, PubMed:14622422, PubMed:15601712). Partially suppressed by a deletion of csrA2 (rsmA) (PubMed:10570200, PubMed:15601712). Fully suppressed by deletion of csrA1 (rsmE) and csrA2 (PubMed:15601712). Its deletion is also suppressed by overexpression of small RNAs (sRNA) RsmZ and RsmY (PubMed:11807065, PubMed:14622422). Loss of expression of sRNA RsmY (PubMed:14622422). Loss of protection of cucumber plants from fungal infection (PubMed:14622422, PubMed:16286659)
Among 102 tested antibiotic-resistant transformants, none had a deleted gene
No visible phenotype under normal growth condition, however cold treatment induces the development of yellowish leaves with necrosis, and treatment with salicylic acid or infection with avirulent pathogen causes a runaway cell death and plant death
Blocks specifically low temperature-induced transcription of cold-responsive genes such as RD29A (PubMed:9401119, PubMed:12032361). Reduced capacity to develop freezing tolerance but does not impair the vernalization response. Defective in protein synthesis in the cold (PubMed:12032361)
Embryos shows disorganization of cell types and lack specification. Loss of V6 rays development in male tail. C and D blastomere derived muscle
Morpholino knockdown results in defects in the branching morphogenesis of the caudal vein and defects in somite specification with impaired muscle differentiation
Depletion of PstP compromises mycobacterial growth and causes marginal elongation of cells. Depletion of PstP in M.tuberculosis negatively impacts its survival in mice and decreases the bacillary load even in an established infection
Loss of LPS O-antigen production
Accumulation of the precursors of the two major storage proteins albumin 2S and globulin 12S in dry seeds
Inactivation of the gene alters the fatty acid profile of the membrane phospholipids by increasing the proportion of longer-chain (C18) fatty acids (PubMed:16079332). It leads to structural changes in the bacterial membrane and alters the membrane properties, resulting in decreased membrane fluidity (PubMed:16079332). This leads to the premature expression of a number of genes, including relA and those involved in the quorum-sensing (QS) system, resulting in a premature production of the QS signals N-butanoyl- and N-hexanoyl-homoserine lactone (C4-HSL and C6-HSL) and a repression of 2-heptyl-3-hydroxy-4-quinolone (PQS) synthesis at later growth phases (PubMed:16079332)
Combined disruption of both Pcgf3 and Pcgf5 causes embryonic lethality; there are no live progeny. Male embryos are detected at 9.5 and 10.5 dpc, but are smaller than normal. Female embryos are already extensively degraded at 9.5 dpc. Placentas from male embryos have some parietal trophoblast giant cells, but fail to form a labyrinth. Placentas from female embryos lack trophoblasts altogether and fail to form a labyrinth. Defects can be attributed to the observed lack of monoubiquitination of histone H2A 'Lys-119' and lack of Xist-mediated silencing of one copy of the X chromosome
No apparent stomatal abnormalities. The double mutant cdkb1;1 cdkb1;2 has a reduced number of abnormal stomata consisting in single guard cells (GC) (PubMed:20675570, PubMed:24123248, PubMed:24687979). CDKA-1 partially rescue abnormal stomata phenotype of cdkb1;1 cdkb1;2 (PubMed:24687979). The quadruple mutant flp-1 myb88 cdkb1;1 cdkb1;2 has a reduced number of large single guard cells blocked at mitosis, with strongly altered shape and size and characterized by enlarged nucleus due to endomitosis and endocycling, as well as extensive chloroplast replication (PubMed:24123248)
In the absence of TcmN, the linear polyketide intermediate formed by the minimal PKS consisting of the TcmJKLM proteins undergoes spontaneous cyclization to form some TCM F2 as well as SEK15 and many other aberrant shunt products
Deletion of the gene results in poor growth, especially under low-salt conditions, alterations in cell shape and in the S-layer, impaired motility and impaired conjugation
Abnormal root expansion with ectopic root-hairs, reduced growth, excess lateral stems and smaller leaves. Loss of regulation of the extent of root epidermal and cortex cell expansion. Ectopic deposition of lignin and aberrant shapes of cells with incomplete cell walls in the pith of inflorescence stems. Exaggerated hook curvature, reduced length and increased diameter of hypocotyls in dark-grown seedlings, and reduced root length and increased number of root hairs in light-grown seedlings. Increased ethylene production. Exhibit also thermotolerance defect. Lacks the lefthanded root epidermal cell file rotation (CFR) and enhanced root skewing in response to low doses of propyzamide. Aberrant reduced tolerance to salt and drought stresses, with accumulated of sodium ions
Exhibits a significant reduction in survival in macrophages after activation with gamma interferon (PubMed:23033470)
Mutant animals are born at Mendelian ratio, but die within 6 hours after birth. They displayed a curly tail and malformations of the caudal spinal column. Lethality can be rescued by changing the genetic background from C57BL/6 to outbred CD1, which allows about 4% of the animals to survive to adulthood. These animals display enlarged spleens with a trend toward increased numbers of eosinophils and monocytic/macrophage populations, dramatic and selective expansion of CD8(+) effector-like T-cells. Splenic follicular organization is normal, and the numbers of CD4(+) T-cell subtypes and B-cells are not significantly altered. No spontaneous germinal center formation, autoantibody production, nor autoimmune tissue damage. Ablation of Rc3h1 gene in the T lineage leads to elevated ICOS levels and expansion of effector CD8(+) T-cells, but not autoimmunity (PubMed:21844204). Mice lacking both Rc3h1 and Rc3h2 genes in CD4(+) T-cells develop lymphadenopathy and splenomegaly with increased spleen weight and cellularity, already at young age. They show a prominent lung pathology with a progressive reduction in the alveolar space concomitant with inflammation. They show an average survival of 130 days. CD4(+) T-cells of these mutants show a pronounced bias toward Th17 differentiation (PubMed:21844204, PubMed:23583643)
In embryos, formation of an abnormal neuropil and the disappearance of the horizontal commissures associated with the midline of the CNS. In pupae, misshapen, duplicated, and shortened rhabdomeres within the eye. In adults, deletion of the ocelli
Chlorotic dwarf mutant pale green in bpg2-1 and bpg2-2 (PubMed:19919572, PubMed:19889879, PubMed:22526496). Reduced sensitivity in the light to chlorophyll accumulation promoted by brassinazole (Brz), a specific inhibitor of the biosynthesis of brassinosteroids (BRs), via the suppression of Brz-induced chloroplast protein accumulation. Decreased number of stacked grana thylakoids in chloroplast, but more starch grains, and more and larger plastoglobules. Abnormal accumulation of precursors of chloroplast 16S and 23S rRNA (PubMed:19919572). Reduced level of chlorophyll and carotenoid pigmentation in plastids leading to defective photosystem II and altered photosystem I functions (PubMed:22526496)
Mutants show impaired dauer larvae production
RNAi-mediated knockdown in distal tip cells results in deformation of ER structure and inhibition of protein secretion which are rescued upon GON-domain expression
Intracellular replication, parasite egress and motility occur normally; however, host cell invasion is severely reduced (PubMed:31492901). Complete inhibition of rhoptry secretion without affecting microneme secretion or rhoptry morphology (PubMed:31492901)
Deletion mutant loses the ability to utilize 3HPP at pH 8.2
Schizonts develop at the same rate as wild type parasites and are morphologically normal at the end of cycle 0 (PubMed:29970464). However, proliferation is impaired during the subsequent cycle (PubMed:29970464). Expression levels of MyoA and MTIP are severely reduced (PubMed:29970464). Expression levels and subcellular location of GAP50 is not affected (PubMed:29970464). No visible defects in intracellular membrane complex development or morphology in the intracellular merozoites (PubMed:29970464). No defect in parasite egress from host erythrocytes (PubMed:29970464). Impaired invasion of host erythrocytes; merozoites bind to erythrocytes but do not induce surface deformation of the erythrocyte and fail to form rings (PubMed:29970464). Microneme discharge is normal (PubMed:29970464)
No visible phenotype, but higher levels of sinapate esters in leaves
Abolishes palmitoylation of ras1 during vegetative growth
Endocytosed alpha-factor accumulates in late endosomes
Blocks autophagy (PubMed:27197558). Leads to reduced conidial germination under starvation (PubMed:27197558). Especially, leads to reduced CP15 levels in conidia (PubMed:27197558). Exhibits also enhanced sensitivity to oxidative stress (PubMed:27197558). Impairs growth of the mycelia on host cadavers and considerably weakens virulence (PubMed:27197558)
No effect on the period length or phase of the circadian clock
Mice are viable and reproduce normally (PubMed:28978694). Show reduced number of both peripheral lymphocyte B cells in the spleen and precursor and mature lymphocyte B cells in the bone marrow (PubMed:28978694). Show smaller and fewer Peyer's patches, lower numbers of immunoglobulin/IgA-secreting B cells and an altered gut microbiome (PubMed:28978694). Exhibit reduced levels of immunoglobulin/IgA in the serum, gut, feces, and lactating mammary gland (PubMed:28978694)
Deletion of this gene results in a synthetic-lethal phenotype when combined with hypomorphic alleles of the replicative primosome (dnaB), DNA polymerase III (dnaN), and DNA topoisomerase IV (parE)
Around 10% of mice die at birth. While surviving pups are the same size as their littermates at birth, they fail to thrive and grow, reaching only 50% of the size of their siblings at postnatal day 15. They die before weaning during the first 3 postnatal weeks. Null pups display relaxed forepaws and reduced dorsiflexion. Hind limb defects are also observed. Defects are caused by inefficient growth of motor axons to distant muscles
Homozygous knockout mice are viable and fertile, with a normal lifespan but display several postnatal skin phenotypes (PubMed:27126290, PubMed:29056331). It includes an increase in total ceramide levels in the dorsal skin, tail epidermis and dermis (PubMed:27126290, PubMed:29056331). This is associated with hair shafts and sebaceous glands abnormalities, cyclic alopecia, a progressive loss of hair follicle stem cells, hyperproliferation, inflammation and abnormal differentiation of the epidermis and results in increased transepidermal water loss and reduction of fat content during aging (PubMed:27126290, PubMed:29056331)
Viable, but has growth defects, particularly when grown in a synthetic medium. Increased sensitivity to disulfide stress. Decreased expression of TTHA0986, TTHA0770, TTHA0337, TTHA1028, TTHA0654, TTHA0655, TTHA0769, TTHA0425, TTHA0634, TTHA0635, TTHA0636, TTHA0637, TTHA0638, TTHA0570, TTHA0030, TTHA0460, TTHB243, TTHA1128, TTHA0035, TTHA0520 and TTHA1803 genes
Plants accumulate sinapoylglucose and contain low levels of sinapoylcholine and increased levels of choline. Decreased levels of both benzoylated and sinapoylated glucosinolates
Greatly attenuates U.virens virulence to rice
Growth retardation, small body size, and reduces significantly the percentage of cells that enter the S phase
Increased sensitivity to membrane stress caused by indole or by overexpression of P pili protein PapG; double baeR-cpxR mutants are more sensitive yet (PubMed:12354228). Loss of induction of the CRISPR-Cas casABCDE-ygbT-ygbF operon (PubMed:21255106)
A double eutM-eutN strain grows as well as wild-type on ethanolamine (EA) and cyanocobalamin, but a quadruple eutL-eutK-eutM-eutN strain does not grow (PubMed:16291677). A non-polar deletion mutant grows on EA at pH 5.5 to pH 7.0 but not at pH 8.0 or pH 8.5, releases increased amounts of acetaldehyde on EA plus vitamin B12. Preventing acetaldehyde vapor loss allow growth up to pH 8.5 (PubMed:16585748)
Cells lacking trm140 show abolished N(3)-methylcytidine modification in tRNA(Thr) (PubMed:27354703). Cells lacking trm140 and trm141 show abolished N(3)-methylcytidine modification in tRNAs (tRNA(Ser) and tRNA(Thr)) (PubMed:27354703)
Mice are viable without renal manifestations of nephronophthisis (PubMed:18684731). Male mice are infertile with oligoteratozoospermia (PubMed:18684731). Spermatogenesis is blocked at the early stages of spermatid elongation, with degenerating spermatids sloughing off into the lumen (PubMed:18684731). Early elongating spermatids are detached from Sertoli cells and show a failure of sperm head and tail morphogenesis and an abnormal F-actin distribution (PubMed:18684731). Severe retinal degradation with mislocalized rhodopsin, disorganized outer segments, restricted expression of transducin to the inner segment and abnormal intraflagellar transport (IFT) of IFT57 (PubMed:19208653)
Impaired walking characterized by walking uncoordination and reduced climbing speed. Type I neurons are apparently unaffected. Abolition of responses to stretching: although the dendritic stretching is not significantly affected, the Ca(2+) responses to both acute and obtuse joint angles are abolished in the mutant. Axons and cell bodies are indistinguishable from controls, while the sensory dendrite exhibit abnormalities: in some of the stum-expressing neurons the tip of the dendrite is overgrown and extended into the distal segment of the joint. Expression of the mouse ortholog (AC Q0VBF8) in mutant flies rescues the phenotype
No visible phenotype under normal growth conditions, but mutant seedlings show reduced root elongation under salt stress and increased germination rates under osmotic stress and exogenous ABA treatments
Defects strongly increase lifespan, the mean lifetime being of 25 days instead of 10 days, suggesting that it may be involved in aging process (PubMed:14668850). RNAi-mediated knockdown results in increased longevity and a reduced nucleoli size (PubMed:28853436). RNAi-mediated knockdown in a ncl-1 mutant background (e1942) reduces the increased longevity and suppresses the reduced nucleoli size of the let-363 single mutant, and reduces the increased ribosomal protein synthesis in the ncl-1 single mutant (e1942) (PubMed:28853436). RNAi-mediated knockdown in the germline causes sterility, a severe reduction in the number of germline progenitors and a delay in G2 phase of the cell cycle (PubMed:22278922). RNAi-mediated knockdown results in no sepa-1 containing aggregates at the comma stage of embryonic development indicative of no germ cell specific P-granules at this stage (PubMed:19377305). RNAi-mediated knockdown enhances the loss of touch receptor neurons in a mec-4 u231 mutant (PubMed:17327275)
Worms exhibit coelomocyte uptake defective (cup) phenotypes. Coelomocytes are scavenger cells that continuously and non-specifically endocytose fluid from the pseudocoelom (body cavity). Endocytosis by coelomocytes is not essential for growth or survival
Failure to develop under standard conditions and failure to induce expression of carA-1 and carA-2 early in development. Failure to sporulate, even under conditions that bypass the dependence on early cAMP signaling pathways. Do not form mature spores and all cells of the mutant spore mass are dark in phase with round or irregular shape. These cells are fragile and easily disrupted under a glass cover slip. Very low level of expression of carA-1 and carA-2 with resulting defects in cAMP signaling and thus impaired aggregation, although aggregates develop normally in the presence of a wild-type strain. Post-aggregation and sporulation defects are cell autonomous and independent of carA-1 expression. Early developmental events of CRTF-null strain can be rescued with exogenous cAMP treatment, constitutive carA-1 expression or co-development with wild-type cells; however, these treatments are insufficient to promote sporulation. In shaking culture, null cells grow with the same doubling time as wild-type cells and form normal size growth plaques on bacterial lawns; however, development within these plaques is very poor. When cells are developed directly on solid substrata, development of mutant cells is completely blocked prior to aggregation
Increased susceptibility to dark and starvation, and to treatment with the TOR inhibitor (PubMed:29084871). Decreased translation activity associated with altered ribosome patterns, especially in the dark and starvation conditions, in which mRNAs distribution is altered and rRNA abnormally degraded (PubMed:29084871). Slightly early flowering time under long-day conditions (PubMed:29084871)
Mice display adult-onset osteosclerosis with increased bone mass due to increased osteoblast activity; the osteoblasts contain elevated levels of Runx2
Slight increase in disease susceptibility to Xanthomonas oryzae pv oryzae
RNAi-mediated knockdown in mex-5 zu199 mutant background causes a loss in plk-1 asymmetric distribution during the first embryonic cell divisions
No visible flowering phenotype
Altered chromosome dynamics and cell division during seed development, leading to aberrant mitoses and giant polyploid nuclei in endosperm as well as arrested embryos with a few small cells
Knockout with RNAi-mediated knockdown of glh-1 results in smaller P-granules and irregular cytoplasmic localization of the P-granule component pgl-3 in embryos (PubMed:21402787). Quadruple RNAi-mediated knockdown with glh-1, pgl-1 and pgl-3 results in offspring that display 27-89% sterility, abnormal oocytes and do not have embryos in the uterus (PubMed:24746798). These sterile offspring still produce sperm (PubMed:24746798). Furthermore, these offspring may have compromised P-granule integrity as there is diffuse cytoplasmic localization of the P-granule component deps-1, which may cause germ cells to initiate somatic reprogramming (PubMed:24746798). RNAi-mediated knockdown in a double ced-1 and hpl-2 mutant background rescues the reduced somatic cell apoptotic cell defect in the ced-1 and hpl-2 double knockout (PubMed:27650246)
Deletion of the gene results in a growth defect on D-xylose and L-arabinose
Greatly increases spontaneous and hydrogen peroxide-induced mutation frequency. Causes mitochondrial genome instability. Suppresses mitochondrial point mutation rates, frameshifts and recombination rates, probably because NTG1 can generate mutagenic intermediates in yeast mitochondrial DNA
RNAi-mediated knockdown causes dumpy body shape (PubMed:24569038). Defects in cuticle integrity (PubMed:24569038)
Knockouts do not survive beyond embryonic 14.5 dpc (PubMed:15459098). Abnormal atrioventricular morphology at 9.5-10.5 dpc and outflow tract (OFT) septation defects in those surviving to 12.5 dpc (PubMed:15459098). Hindlimb digit duplication at 14.5 dpc (PubMed:15459098). Increased expression of CDKN1A, FRZB, IL33, SHISA3, and CCN4/WISP1 in lung mesenchyme between 12.5-14.5 dpc (PubMed:33731112). Conditional knockdown targeted mainly to lung mesenchyme causes lung hypoplasia at 18.5 dpc (PubMed:27720610). Conditional knockdown targeted mainly to the otic epithelium disrupts inner ear morphogenesis, which is exacerbated by simultaneous conditional knockdown of TBX3 (PubMed:33795231). Simultaneous conditional knockdown of TBX2 and TBX3 targeted mainly to lung mesenchyme causes severe bleeding from 10.5 dpc and embryos die shortly thereafter, perhaps as a result of knockdown in the developing heart (PubMed:27720610)
Required for growth in ambient air
Mutants show loss of twitching motility and are defective in type IV pilus assembly (PubMed:12057955). Expression of ExsA is also strongly affected in the mutant (PubMed:26929300)
Mice lack expression of this protein resulting in the development of adult onset nephrotic syndrome and chronic renal failure. They also develop severe morphological degeneration of the inner ear. In the inner ear, mice lacking Mpv17 display degenerative changes of the cochlear structures already at the age of 2 months. The degenerative changes are patchy arranged throughout the entire length of the cochlea and involved the organ of Corti as well as the stria vascularis epithelia with alterations of the basement membrane of the capillaries
The tick attachment time is prolonged and the engorgement body weight is decreased after gene silencing by RNA interference. No significant difference is observed in the feeding period and survival
Decreases biofilm formation (PubMed:16385049)
Impairs the production of ascofuranone and leads to the accumulation of ilicicolin A epoxide
Knockout mice show a deficiency in ms(2)i(6)A modification, resulting in impaired mitochondrial protein synthesis, which leads to respiratory defects
According to PubMed:22211696, cells lacking this gene show round shape (the cell shape of wild-type strain is ovoid) and form long chains with unsplit cross-wall joining cells. Their septa either are not positioned at the equator, or display an aberrant ultrastructure (curly aspects). They display delocalized sites of peptidoglycan synthesis. According to PubMed:22431591, cells in which StkP is depleted clearly show an elongated phenotype, with cell-wall synthesis occurring along the peripheral side between the septal zones
Cells do not generate the small monosaccharide-charged dolichol phosphate species
Cells lacking this gene have a 100-fold increased spontaneous mutation frequency. A double mutM/mutY disruption has a 1000-fold increased spontaneous mutation frequency (PubMed:12483591). Triple ytkD/mutM/mutY disrupted strains show increased mutation rates during exponential and stationary phase (PubMed:19011023)
Leads to defects in endocytosis. Displays a characteristic class E vacuolar morphology and multilamellar structures consistent with an aberrant prevacuolar compartment. Missorts several vacuolar proteins to the extracellular space, including carboxypeptidase (CPY), vacuolar protease A (PrA), and vacuolar protease B (PrB). In addition, certain soluble secretory proteins, such as invertase and acid phosphatase, are missorted from the pre-vacuolar compartment (PVC) to the general secretory pathway prior to exocytosis. Results also in a decrease of canonically secreted proteins. Shows increased biofilm formation. Causes reduced tissue damage in an in vitro oral epithelial model (OEM) of tissue invasion, and defects in macrophage killing in vitro. Shows also attenuated virulence in an in vivo Caenorhabditis elegans model representative of intestinal epithelial infection
Decreased sensitivity to dramatic intracellular increases of ppGpp. Double mazE-mazF disruptions survive high temperature, various DNA-damaging agents and H(2)O(2) exposure better than wild-type cells. They produce more P1 phage than wild-type cells, while introduction of lysogens into a growing non-lysogenic disruption culture is lethal (PubMed:15316771). Double mazE-mazF disruptions show reduced biofilm formation, and survive antibiotic treatment in log phase better than wild-type cells. Cells missing mazE-mazF survive hydroxyurea treatment better than wild-type; further disruption of relE-relB and tonB yields even better survival (PubMed:20005847)
Decreases virulence in a mouse intranasal inhalation model and intravenous model for infection (PubMed:21487010, PubMed:27611567, PubMed:28376087, PubMed:29233914). Decreases virulence in a moth model (PubMed:28376087). Decreases urease activity (PubMed:29113016). Decreases levels of: laccase and melanin (PubMed:21487010). Hypercapsular with mucoid colony morphology (PubMed:21487010). Sensitive to: calcium; lithium; sodium nitrite; high temperature; sodium dodecyl sulfate (cell wall stress inducer); Calcofluor White (cell wall stress inducer); Congo Red (cell wall stress inducer); caspofungin (cell wall stress inducer) (PubMed:21487010, PubMed:27611567, PubMed:28376087, PubMed:29233914, PubMed:31266771). Abolishes filamentation during growth on glucosamine carbon source (PubMed:28898238). Decreases RNA level of genes involved in membrane transport, carbohydrate metabolism, signaling, DNA replication, and sterol biosynthesis during heat stress (PubMed:28376087). Decreases CHS5 and CHS6 RNA level during heat stress (PubMed:27611567, PubMed:28376087). Decreases RNA level of ZNF2 during growth on glucosamine carbon source (PubMed:28898238). Increases MFalpha1 expression during mating (PubMed:27611567). Normal hyphal morphology during mating (PubMed:23251520, PubMed:28376087). Simultaneous disruption of HAD1, PUF4 or LHP1 results in phenotypic enhancement (PubMed:27611567, PubMed:29233914)
Mutant produces lycopene, but not C(45) and C(50) carotenoids
Males are sterile, because of meiotic arrest during spermatogenesis due to demethylation and subsequent derepression of transposable elements. No spermatids were observed in the mutant testes, and no spermatozoon in the epididymis. Effects are caused by defects in primary piRNA biogenesis: in contrast to wild-type cells neither mitochondria nor associated meiotic nuage (named P granule) are aggregated
Deletion of the gene leads to a reduced intracellular growth in the protozoa A.castellanii and decreased levels of effector translocation (PubMed:32513920). Deletion of dotY results in the absence of both DotY and DotZ proteins in the coupling complex (PubMed:34816517). Deletion mutant shows significantly reduced DotL polar localization (PubMed:34816517)
Embryonic lethality or larval arrest (PubMed:11896189, PubMed:15355315). Heterozygous animals are viable and display increased pharyngeal pumping rates associated with reduced acetylcholinesterase activity (PubMed:11896189, PubMed:15355315)
Mutants specifically interrupt the transmission of the regulatory signal from early to late ecdysone inducible genes
Mutants have small gonads and the number of progeny is reduced (PubMed:21127218). At higher temperatures, 20 percent of mutants are sterile with no gametes (PubMed:21127218). Mutant embryos display several defects in P granule partitioning during the first cell divisions. Unlike in wild-type, plg-1-positive granules becomes unstable during mitosis resulting in their disassembly and in the loss of asymmetric segregation of plg-1 between somatic and germline blastomeres (PubMed:21127218). plg-1-positive granules reform during interphase but are fewer and smaller (PubMed:21127218). By the 100-cell stage, only small granules remain, and these are not enriched in Z2/Z3 primordial germ cells compared to wild-type. In addition, asymmetric segregation of cey-2 and nos-2 mRNAs, 2 components of P granules, is lost without affecting their degradation in the somatic lineage after cell division (PubMed:21127218). RNAi-mediated knockdown suppresses constitutive dauer formation, and, increases lifespan, fat storage and thermotolerance and reduces daf-16 nuclear localization in a daf-2 (e1370) mutant background (PubMed:19249087)
Animals are viable. Suppresses the abnormal formation of intestinal vacuoles phenotype in mutants lacking the phospholipid-transporting ATPase tat-1 or its chaperone chat-1
Formation of detergent-resistant aggregates and inclusions composed of stalled proteins: defects are caused by inability to ubiquitinate and degrade stalled proteins (PubMed:27129255, PubMed:26934223). CAT-tailed protein species tend to aggregate and sequester chaperones and can induce proteotoxic stress (PubMed:27129255, PubMed:26934223)
No visible phenotype, due to the redundancy with NAC045 (AC A4VCM0). Nac045 and nac086 double mutants exhibit seedling lethality with defective development of the protophloem sieve element
RNAi-mediated knockdown results in an increase in number of apoptotic germ cells (PubMed:12524540). Double RNAi-mediated knockdown together with cep-1 abrogates this increased number of apoptotic germ cells (PubMed:12524540)
Abolishes the production of ochratoxin A and its degradation derivative ochratoxin alpha
No obvious phenotypic abnormalities but mice show increased phosphorylation of Eif2a and decreased phosphorylation of Eif4ebp1 and Rps6kb1
Abolishes the production of viriditoxin
Deletion of nuoG in M.tuberculosis reduces its ability to inhibit apoptosis of infected human or mouse macrophages and significantly decreases its virulence in mice (PubMed:17658950). The apoptogenic phenotype of the mutant strain is significantly reduced in human macrophages treated with caspase-3 and -8 inhibitors, TNF-alpha-neutralizing antibodies, and also after infection of murine TNF(-/-) macrophages. Moreover, incubation of macrophages with inhibitors of reactive oxygen species (ROS) reduces not only the apoptosis induced by the nuoG deletion mutant, but also its capacity to increase macrophage TNF-alpha secretion. The phagosomes infected with the mutant show increased ROS levels compared to M.tuberculosis phagosomes in primary murine and human alveolar macrophages. The increase in nuoG deletion mutant induced ROS and apoptosis is abolished in NOX-2 deficient (gp91(-/-)) macrophages (PubMed:20421951). Compared to wild-type, the nuoG deletion mutant spreads to a larger number of lung phagocytic cells. Consistent with the shorter lifespan of infected neutrophils, infection with the nuoG mutant results in fewer bacteria per infected neutrophil, accelerated bacterial acquisition by dendritic cells, earlier trafficking of these dendritic cells to lymph nodes, and faster CD4 T cell priming. Neutrophil depletion abrogates accelerated CD4 T cell priming by the nuoG mutant, suggesting that inhibiting neutrophil apoptosis delays adaptive immunity in tuberculosis (PubMed:22264515)
RNAi-mediated knockdown results in a 25% increase in lifespan
Distorted seed coat with reduced mucilage content and decreased suberin and cutin composition. Crumpled columellas
The proG proH proI triple mutant is auxotrophic for proline
Slight reduction in length of primary root
Embryos show defects in branchial arch and ceratohyal development
RNAi-mediated knockdown abolishes expression of sulfotransferase ssu-1 and thioredoxin trx-1 in the ASJ sensory neurons, in adults, embryos and larvae
No visible phenotype but deficient mice present increased cardiac hypertrophy in response to pressure overload
In susceptible plants, increased tomato mosaic tobamovirus (ToMV) induced necrosis in inoculated leaves but delayed development of systemic viral symptoms (PubMed:23148080). ToMV is able to establish efficient local infection but not to move systemically (PubMed:23148080). Compromised Tm-2(2)-dependent resistance (PubMed:23148080)
Causes a vacuolar protein sorting defect
Leads to sensitivity to hydrogen peroxide when cells were grown in nutrient-limited conditions
Animals with a double knockout of KREM1 and KREM2 exhibit enhanced Wnt signaling accompanied by ectopic postaxial forelimb digits and expanded apical ectodermal ridges. They also exhibit increased bone volume and bone formation rates. Triple knockout mice KREM1/KREM2/DKK1 exhibit enhanced growth of ectopic digits
Cells lacking this gene show cell death, a decrease in its activity, defects in cell division, reduced growth, alteration of colonial morphology, and accumulation of trehalose dimycolates in the cell envelope
Leads to the accumulation of exo-1-acetamidopyrrolizidine but no lolines (PubMed:24374065)
Parenchymal expansion phenotype and overall lung enlargement evident from 18 days post-conception (dpc), as a result of increased lung cellularity, airspace enlargement and increase in the number of AT2 cells in the lung alveolar compartments (PubMed:29400695). Increase in AT2 cells in S and G2/M phase of the cell cycle with no change in low levels of apoptosis in the lungs (PubMed:29400695). Increase in bronchoalveolar lavage fluid leakage as a result of alveolar epithelial cell injury at P3 and four weeks of age, resulting in an increase in AT2 cells in the lungs by four weeks of age (PubMed:24787463). Increase in expression of Cldn3 and Cldn4 in lungs at P7 (PubMed:24787463). Fixed alveolar permeability defect and dysregulation of genes involved in lung development in lung tissue, including Areg, Shh, Eln, Vegfa, Fgfr4, and Adm from 4 weeks of age (PubMed:24787463). Impaired alveolarization and decreased lung surface area at four weeks of age (PubMed:24787463). Membrane ruffling and splaying is evident at AT1-AT1 cell junctions at 8 weeks of age (PubMed:24787463). Increase in alveolar fluid clearance and lung permeability (PubMed:24588076). Increase in sodium/potassium-transporting ATPase activity in lungs, accompanied by an increase in Atp1b1 subunit expression, and decreases in Atp1a2, Atp1b3 and Atp1b2 subunit expression (PubMed:24588076). Increase in expression of Cldn3 and Cldn4 in lung tissues with a decrease in Ocln and Egr1 expression in lung tissues (PubMed:24588076). Increase in separation distance between Tjp1/Zo-1 in adjacent cells suggesting tight junction separation (PubMed:24588076). Cytoskeleton rearrangements as evidenced by increased F-actin localization to the plasma membrane and perinuclear actin aggregates with projected radial fibers to the plasma membrane (PubMed:24588076). Decrease in sensitivity to lung injury in response to ventilator-induced lung injury (PubMed:24588076). Increased nuclear localization and protein mobility of Yap1 while phosphorylated Yap1 abundance is decreased in AT2 cells, this results in an increase in Yap1-target genes such as Ccnd1, Areg, Cdk6 and Ccn2/Ctgf at two months of age (PubMed:29400695). Enlargement of the stomach due to increase in gastric mucosal thickness from 2 months of age (PubMed:29400695). Enlargement of the duodenum and kidney from 2 months of age (PubMed:29400695). Histological abnormalities in the gastric mucosa including inflammatory infiltrates and a decrease in the number of well-differentiated gastric chief cells and parietal cells (PubMed:22437732). Reduced total body bone mineral content, total body bone mineral density (BMD), cortical bone thickness, vertebra BMD and femur BMD by 20-25% from 4 to 26 weeks of age (PubMed:22437732, PubMed:23299504). Reduced trabecular bone, trabecular thickness and trabecular number decreased by 50%, whereas trabecular spacing is increased by 50% from 4 to 26 weeks of age (PubMed:22437732). Significant increase in osteoclastogenesis, osteoclast number and number of nuclei in osteoclasts on the surface of the trabecular bone of the proximal tibia (PubMed:22437732). Decrease in bone mass density in the femur, lumbar and whole body (PubMed:22437732). Skeletal defects and osteoclast levels were exacerbated significantly by a calcium depleted diet (PubMed:22437732). Reduction in bone volume to total volume ratio and osteoclast surface to bone surface ratio at 14 weeks of age (PubMed:23299504). Protection against ovariectomy-induced loss of total body, femur and lumbar bone mass density (PubMed:23299504). A 68% increase in incidence of tumors in lungs between 18 and 20 months of age, tumors develop after 10 months of age (PubMed:29400695). Tumors are of a AT2 cell-derived lineage, typically adenocarcinomas with associated alveolar mononuclear cells (PubMed:29400695)
Defective alveolar formation and increased alveolar macrophage counts evident at 6 weeks of age (PubMed:34702961). Increase in C. neoformans fungal burdens in bronchoalveolar lavage fluids (BALF), lung tissue and alveolar space from 1 day post-infection to 14 days post-infection (PubMed:34702961). Increase in multiplication of C. neoformans and poor granulomatous responses in the lung at 14 days post-infection with overall higher infection burdens in the brain and lungs to 28 days post-infection (PubMed:34702961). Increase in neutrophils, alveolar macrophages, inflammatory monocytes, natural killer cells, CD4-positive T-cells, CD8-positive T-cells and natural killer T-cells in BALF 3 days post-C. neoformans infection (PubMed:34702961). Decrease in IFNG in BALF on days 3 and 7 post-infection, similarly a decrease in Il4 and Il13 in BALF on day 14 and in the lungs on day 3 and day 14 post-infection (PubMed:34702961). Decrease in Il17a in BALF on day 7 and in the lungs on day 14 post-infection (PubMed:34702961). Increase in K(+) ion concentration in BALF, with a decrease in pH which persists 7 days post-infection, resulting in the increased replication of C. neoformans (PubMed:34702961)
100% incidence of chronic gastritis with atypical distribution of cells in the gastric gland, including fewer parietal and chief cells that are replaced by metaplastic cells with dilated gland lumina (PubMed:22079592). Lack of increase in stomach lumen acidification with age (PubMed:22079592). Lack of sensitivity to gastric acidity and an increase in ion permeability of the gastric paracellular barrier (PubMed:22079592). Spasmolytic polypeptide-expressing metaplasia cells are dominant in the stomach in place of well-differentiated parietal cells and chief cells (PubMed:22079592). Abundant inflammatory cells in the submucosal region (PubMed:22079592). Slight decrease in the localization of Cldn18 isoform A1.1 at tight junctions in the gastric superficial mucous epithelial cells (PubMed:22079592). Upper apical layer of tight junctions in the stomach missing resulting in a decrease in tight junction width (PubMed:22079592). Increase in proinflammatory markers Il1a and Tnf/Tnf-a, the chemoattractant Cxcl1/Kc and prostaglandin E2 inflammatory marker Ptgs2/Cox2 in gastric tissue (PubMed:22079592)
RNAi-mediated knockdown results in 100% sterility at 25 degrees Celsius
Null mutant is unable to produce virginiamycin. Addition of VB restores the deficiency of virginiamycin production
Impairs respiratory growth
Strains lacking this gene are unable to grow on the carbon sources acetate, citrate, glutamate, and lactate and display no detectable fructose-1,6-bisphosphatase activity
Sterility in both male and female gametes
Mice develop normally without obvious somatic defects but males and females are sterile due to defects in homologous synapsis (PubMed:27723721). Oocytes are depleted in six-week-old females and spermatocytes in males undergo apoptosis at a stage equivalent to wild-type mid-pachytene (PubMed:27723721). Complete synapsis is never observed and incomplete synaptonemal complexes are detected in meiocytes equivalent to late-zygotene and pachytene (PubMed:27723721)
No visible phenotype under normal growth conditions, but mutant plants accumulate violaxanthin and completely lack neoxanthin
Resistance to high concentrations of exogenous glucose and sucrose on early seedling development
Abolishes ascospore release from ascus during sporulation
According to some authors (PubMed:10549295) ttv mutants have no effect on wg signaling, while according to others (PubMed:14645127, PubMed:14729575, PubMed:15056609) wg signaling is affected. Such discrepancy may be explained by the fact that the absence of ttv could be partially compensated by the intact sotv protein
Increase in the frequency of precise transposon excision (PubMed:9139905, PubMed:16407313, PubMed:19948254). No visible growth phenotype at 37 or 18 degrees Celsius. A double bipA-uup deletion does not grow at 18 degrees Celsius, i.e. the uup deletion exacerbates the bipA deletion (Ref.10). Deletion leads to an increase in DNA crossing over, DNA repeat deletion and DNA repeat expansion; double uup-radD deletion increases the phenotypes. Although single uup deleted cells replicate normally, they are filamentous and lack defined nucleoids, again exacerbated by a radD deletion (PubMed:31665437)
Deficient mice are born at normal Mendelian ratio, with no apparent defects at birth. However mice exhibit impaired exercise endurance with abnormal neuromuscular junctions innervation and lower compound muscle action potential amplitude
Mutant mice exhibit enhanced mechanical and chemical hypersensitivity following inflammation and nerve injury
RNAi-mediated knockdown increases expression of Runt-related transcription factor rnt-1
Cells lacking both hpbD and hypF are unable to utilize tHyp-B or t4LHyp as sole carbon source
Cell envelope-associated glycolipid phthiocerol dimycocerosate (PDIM)-positive mutants with simultaneous deletion of PPE31/PPE32/PPE33 genes have a growth defect in Mg(2+) restricted media, particularly at mildly acidic pH, but the PDIM-negative mutants grow normally
Inviable vegetative cell population (PubMed:27866167). Inviable spore (PubMed:27866167)
Cells lacking this gene are unable to grow on fructoselysine or psicoselysine, where they do grow on glucose
No visible phenotype under normal growth conditions, but mutant seedlings show increased sensitivity of roots to salt stress
Mutant animals develop normally and do not exhibit any pronounced immunological deficiency
Dwarf plants with short roots and small yellowish leaves
Deletion of the gene causes a decrease in the overall Spx levels, as well as a change in the dynamics of Spx accumulation
Increased sensitivity to lead ions (Pb) stress mediated by Pb(NO(3))(2) associated with a reduced Pb accumulation leading to decreased phytochelatin (PC) synthesis and related gene expression. Higher sensitivity to hydrogen peroxyde H(2)O(2)
Leads to a complete loss of expression of all seven cellulases, auxiliary factors for cellulose degradation, beta-glucosidases and xylanases. Affects also the expression of 50% of the GCN5-related N-acetyltransferases (GNATs) present in the genome (PubMed:24909838)
RNAi-mediated knockdown in muscle results in mitochondrial calcium uptake defects
Abolishes cellular acid trehalase activity (PubMed:7502577, PubMed:19703229). Abolishes growth on trehalose carbon source (PubMed:8647289)
Cells lacking this gene lose sulfurtransferase activity and require thiamine and nicotinic acid for growth. Under aerobic conditions the deletion of IscS causes an auxotrophy for thiamine and nicotinic acid, whereas under anaerobic conditions, only nicotinic acid s required
Defects in Ttbk2 are the cause of the bartleby (bby) phenotype characterized by defects in sonic hedgehog/SHH signaling and ciliogenesis. Embryos display morphological defects at midgestation similar to those seen in mutants that lack cilia, including holoprosencephaly, twisted body axis, abnormal limb development and randomized laterality of heart looping. Mutants die at midgestation (around 10.5 dpc)
Deletion mutant does not exhibit any growth defect. Combined inactivation of FabH and FabY results in growth arrest, possibly due to the loss of fatty acid biosynthesis
Cells lacking this gene display no visible phenotype during vegetative growth or sporulation
SMAD3 null mice exhibit inhibition of proliferation of mammary gland epithelial cells. Fibrobasts are only partially growth inhibited. Defects in osteoblast differentiation are observed. Animals are osteopenic with less cortical and cancellous bone. Facture healing is accelerated. Decreased bone mineral density (BMD) reflects the inability of osteoblasts to balance osteoclast activity. Wound healing is accelerated to about two and a half times that of normal animals. Wound areas are significantly reduced with less quantities of granulation tissue. There is reduced local infiltration of moncytes and keratinocytes show altered patterns of growth and migration. Accelerated wound healing is observed on castration of null male mice, while null female mice exhibited delayed healing following ovariectomy
Loss of resistance to bacteriophage lambda infection, loss of plasmid silencing
Semidwarf phenotype with reduced sensitivity to brassinosteroids (BRs) and enhanced sensitivity to abscisic acid (ABA) during germination
Pale green and very early flowering phenotype and complete deficiency in photoperiodic response. Lack of photoreversible phytochromes and responses of coleoptile elongation by light pulses
No visible phenotype under normal growth conditions, but the double mutant plants traf1a and traf1b, or muse13 and muse14 are extremely dwarf when grown at room temperature
Mice lacking GDF6 display photoreceptor degeneration. Animals exhibit abnormal electroretinograms with up to 66% decreases in the bipolar cell-driven b-wave and 54% decreases in the photoreceptor-mediated a-wave amplitudes, as well as 3 to 27% reduced photopic flicker fusion. The lengths, but not the widths, of dermal flat bones in the skull and the digits are significantly shorter than in wild type (PubMed:26774823). GDF6-knockout mice also shows cochlear aplasia, while the vestibular anatomy is normal (PubMed:32369452)
Reduced alkaloids and nicotin levels associated with a lower putrescine production (PubMed:32242247). Occasionally, an early senescence and a lower viability of the older leaves is observed (PubMed:32242247)
Simultaneous RNAi-mediated knockdown of lys-5 results in a reduction in survival following S.aureus infection
Null mutants retain the ability to ciliate and survive through gestation. They die shortly after birth due to different phenotypes reminiscent of Shh signaling defects: polydactyly, lung isomerisms, and structural heart defects (PubMed:25446516). Conditional knockout in male germ cells results in infertility, abnormal sperm morphology, significantly reduced sperm count and sperm mobility (PubMed:28964737). Mutant mice with germline deletion of IFT27 die shortly after birth with structural defects in most organs including the kidneys, where duplicated collecting duct system and/or duplex kidney is often observed. Conditional deletion in the collecting duct results in smaller kidneys that develop only mild tubule dilation with age whereas conditional deletion from the peri-Wolffian duct stroma results in duplex kidneys (PubMed:29626631)
RNAi-mediated knockdown in males results in reduction of aggressive display. RNAi-mediated knockdown in females results in a significant reduction in sexual receptivity after exposure to the male-specific pheromone cis-vaccenyl acetate (cVA)
Increased bone mass and failure to generate multinuclear osteoclasts in vitro (PubMed:12569157, PubMed:14969392). Thalamic hypomyelination, synaptic degeneration, reduced startle response and aberrant electrophysiological profiles (PubMed:12569157). Enhanced proliferation of B cells (PubMed:21727189). Reduced number of microglia at sites of nerve injury and high rate of neuronal survival (PubMed:25690660). Impaired macrophage fusion (PubMed:18957693). Defective osteoclast cytoskeletal organization and function (PubMed:18691974)
Mutant cannot make methanethiol (MeSH) or dimethylsulfide (DMS) from either minimal medium or medium supplemented with methionine. However, it can make DMS when exogenous MeSH is added
Mutant mice appear grossly normal and are fertile. They display polyuria and increased urinary excretion of Ca(2+), due to defective Ca(2+) reabsorption in the kidney distal convoluted tubules. Likewise, they display increased urinary excretion of phosphate. Besides, their urine has a lower pH. The polyuria and the urine acidification may be a response to the high urinary Ca(2+) levels, preventing the formation of kidney stones (PubMed:14679186). Serum Ca(2+) and phosphate levels are normal, probably due to increased expression of TRPV6 and increased Ca(2+) absorption in the intestine. The increased expression of TRPV6 may be due to the increased serum levels of 1,25-dihydroxy-vitamin D3 that are observed in mutant mice (PubMed:14679186, PubMed:27102152). Age-related changes in trabecular and cortical bone mass are accelerated in male mutant mice, including reduced trabecular and cortical bone thickness. Still, this has no effect on bone strength (PubMed:27102152)
Leads to intracellular accumulation of clotrimazole (PubMed:23629708)
Disruption of the gene affects the expression of about forty genes (PubMed:35938806). The mutant survives better than the wild-type strain inside macrophages (PubMed:35938806). It also has impaired biofilm formation, due to overexpression of the alkB-rubAB operon (PubMed:35938806). Mutant does not show significant difference in the transcription of mmpL3 and mmpL11 (PubMed:35938806)
Essential, it cannot be deleted (PubMed:28096490). Deletion of the mbcT-mbcA operon has no visible phenotype (PubMed:30792174)
Plants display an impairment of both the Ca(2+) inhibition of stomatal guard cell opening and abscisic acid (ABA) inhibition of seed germination
Leads to hypersensitivity to caspofungin
Leads to total loss of monodictyphenone and agnestin biosynthesis and accumulates emodin and chrysophanol
The knockout of the gene results in embryonic lethality between 11.5 and 12.5 dpc (PubMed:28263186). Chondrogenic mesenchymal condensation is absent in 12.5 dpc embryos (PubMed:28263186). Conditional deletion in intestinal epithelial cells causes a significant loss of both Paneth and goblet cells in intestine, which in turn results in dysbiotic microbiota and increased susceptibility to experimentally induced colitis (PubMed:30701081)
Reduced growth with methionine or methionine sulfoxide as unique source of sulfur
Deletion mutant results in a two to three-fold reduction in extracellular exoenzyme S activity representing the efficiency of type III secretion system (T3SS) (PubMed:9045825, PubMed:15225323). Mutant also demonstrates a lag in the induction of cytotoxicity towards Chinese hamster ovary cells and is attenuated for virulence in a mouse pneumonia model (PubMed:16714561)
Plants show a developmental arrest of the embryos at the globular stage
Deficient mice shown no overt abnormalities in body size, development, behavior, or fertility
RNAi-mediated knockdown in the whole body, in the mesoderm, the respiratory system or the amnioserosa results in lethality (PubMed:22157008). RNAi-mediated knockdown in the epidermis or the digestive system and reproductive tract results in a reduction in viability (PubMed:22157008). RNAi-mediated knockdown in salivary glands results in aberrant secretory granule morphology showing angular, shard-like morphology (PubMed:30158631)
The mutant lacking the yqfB gene retains the ability to grow, albeit poorly, on N(4)-acetylcytosine as a source of uracil
Deficient mice are born the expected Mendelian ratio and have a normal body shape and weight. No obvious abnormalities in gross anatomy or major myelin protein components nor in the compartment of myelinated axons and oligodendrocyte maturation. Nevertheless, deficient mice display increased exploratory activity in a novel environment
Defects in mitochondrial morphology
No visible phenotype. Cells show normal growth
Mutants lacking both murJ and amj have a lethal defect in cell wall synthesis
Fast germination rate, fast growth rate, increased biomass accumulation and early flowering
Reduced trunk contractile force and complete pectoral fin paralysis. Muscle weakness is most pronounced in an appendicular muscle and is explained by reduced myosin activity and fiber degeneration
Mice show increased CDK2 activity in spleen with disruption of the splenic architecture
Inactivation of both APA1 and APA2 promotes a great increase in the cellular concentration of bis(5'-nuceleosidyl) tetraphosphate nucleotides
Blood stage parasites are not viable (PubMed:29459732). Initial schizont development is normal but merozoite egress is abolished due to a failure to rupture the host erythrocyte membrane (PubMed:29459732). Does not affect poration of the host erythrocyte membrane which precedes erythrocyte membrane rupture (PubMed:29459732). Cleavage of host erythrocyte SPTB/beta spectrin and ANK1/ankyrin-1 is impaired (PubMed:29459732)
After infection with Citrobacter rodentium, mutants show significantly increased bacterial loads at day 5 compared to wild-types. They are able to control the infection by day 12 post-infection, they exhibit significantly shortened colon length. They don't have impaired cytokine response (PubMed:29420262). Mutants also exhibit impaired recovery from dextran sodium sulfate-induces colitis, they show increased body weight loss and reduced colon length (PubMed:29420262)
Cells lacking this gene lead to irreversible loss of viability
No visible phenotype. Mutant mice are fully fertile and show intact spermatogenesis
No visible phenotype under normal growth conditions, but the triple mutant cka1, cka2 and cka3 show altered circadian rhythms and delayed flowering under long day conditions
Severe larval growth defect
When exposed to copper, the deletion mutant shows reduced growth under both aerobic and anaerobic photosynthetic conditions (PubMed:26396241). Mutant is extremely sensitive to copper under anaerobic photosynthetic conditions (PubMed:26396241). Mutants lacking this gene are more susceptible to copper than the Cu(+) ATPase copA mutant under microaerobic and anaerobic photosynthetic conditions (PubMed:26396241). Periplasmic copper accumulation in the deletion mutant affects periplasmic and membrane c-type cytochromes (PubMed:26396241)
Mutant shows a reduced rate of spore germination in L-alanine
Temperature-sensitive with embryonic lethality at 25 degrees Celsius. RNAi-mediated knockdown results in 10% embryonic lethality at 20 degrees Celsius and 90% embryonic lethality at 25 degrees Celsius due to cell division and cytokinesis defects including centrosome duplication and attachment defects, and failed bipolar spindle formation in embryos. RNAi-mediated knockdown in a zyg-20 (it25) mutant background results in suppression of the embryonic lethality phenotype in the zyg-1 single mutant at 24 degrees Celsius
RNAi-mediated knockdown causes no obvious morphological defects (PubMed:17652078). In an srf-3 mutant background, causes accumulation of oocytes in the proximal gonad arms and abnormal gonad arms, such as twists and overturns (PubMed:17652078)
Mice are growth retarded and die at different stages of development depending on their genetic background. Embryonic death is due to placental defects. Mice surviving until birth or later display brain, bone, heart and various epithelial development defects in several organs, including skin, lung and gastrointestinal tract
Leads to an albinos phenotype (PubMed:16879655). Inactivates the expression of the aurofusarin biosynthetic gene cluster (PubMed:16879655, PubMed:16461721)
Defective in bulk endocytosis as well as in internalization of prominent plasma membrane proteins. Defects in constitutive endocytic recycling of PIN auxin transporters and their polar distribution in embryos and roots leading to altered auxin distribution patterns and associated auxin transport-related phenotypes. Defective in embryonic and postembryonic development
High rate of embryonic lethality. 2 peaks of death are observed: approximately half of the embryos die around days 11 or 12 of embryonic development. Of the embryos that survive past this stage, approximately two-thirds die at birth. Surviving mice are systematically smaller. Their body weights at birth are approximately one-third lower. This growth retardation increases with age, and the body weights that adult male or female mice attain are less than half those of wild-type mice. Mice exhibit a pronounced defect in nodal cilia: cilia are present but remain markedly stunted. Mice also suffer from hydrocephalus without stenosis of the aqueduct of Sylvius. In pancreatic endocrine cells, primary cilia are reduced in number and severely stunted: this ciliary abnormality is associated with a developmental defect leading to an altered cellular composition of the islets of Langerhans. Just before birth, islets contain considerably less insulin-, glucagon-, and ghrelin-producing cells, whereas pancreatic PP (polypeptide-producing) cells are markedly increased in number. In adult mice, the defect leads to small and disorganized islets, reduced insulin production, and impaired glucose tolerance
Abolishes the production of both oxepinamide F and oxepinamide E and leads to the accumulation of protuboxepin A
Abolishes the production of penitrems A, B, D, E, and F as well as of 13-desoxypaxilline, but accumulates the early pathway intermediate paspaline
Death during development, the few adult escapers exhibit clockwise rotation of the abdomen
Alters carbohydrate composition of cell wall protein GspB, about 20% reduction in platelet binding by whole cells
Cells have no magnetic response and no magnetosome membranes (PubMed:20212111). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
No visible phenotype at birth (PubMed:11983912). After two months, mutant males display a profound disorganization of the inner and outer nuclear layer of the retina, with increased extracellular spaces in the region of photoreceptor ribbon synapses and the appearance of gaps, and a decrease in the number of photoreceptor cell outer segments (PubMed:11983912, PubMed:17325137). The number of cone photoreceptors is reduced threefold (PubMed:11983912). After three months, mutant males display a layer of small, cyst-like structures in the inner retina (PubMed:11983912). They have profoundly altered electroretinograms, indicating a decreased light sensitivity due to a decrease in the number of functional photoreceptors (PubMed:11983912)
Defective cilia sensory function. Abnormal dye filling (Dyf) in the ASI neuron and chemotaxis behavior. Shorter cilia lengths in a subset of ciliary neurons. Aberrant localization of other cilia-expressed proteins
Animals are viable (PubMed:18219312, PubMed:19646877). However, there is defective double strand break repair (PubMed:18219312, PubMed:19646877, PubMed:26903030). During the early stages of meiosis, this is characterized by impaired homologous recombination in germ cells with increased apoptosis and increased numbers of rad-51-positive foci (PubMed:18219312, PubMed:19646877). Increased sensitivity to UV and IR irradiation and topoisomerase inhibitor camptothecin compared to wild-type (PubMed:24424777, PubMed:26903030). Following either IR irradiation or camptothecin treatment, there is reduced egg hatching (PubMed:26903030). Furthermore, there are also DNA damage repair defects following ionizing radiation and UV irradiation characterized by reduced ubiquitination at DNA damage sites and reduced rad-51-positive foci, respectively (PubMed:16628214, PubMed:24424777, PubMed:26903030). High levels of embryonic lethality and abolished brd-1 expression following DNA damage induced by ionising radiation (PubMed:30383754). Double knockout with brd-1 impairs rad-51 localization to DNA damage sites following DNA damage induced by ionising radiation (PubMed:30383754). RNAi-mediated knockdown results in high X chromosome non-disjunction leading to a high incidence of males (him) phenotype (PubMed:14711411). RNAi-mediated knockdown in addition to gamma-irradiation at the L4 stage of larval development, results in reduced progeny, increased cep-1/p53-dependent germ cell death, chromosome fragmentation and DNA repair defects (PubMed:14711411)
Decreases Mg(2+) influx
Triple mazE-mazF-recA mutant cells no longer undergo an apoptotic-like death upon DNA damage characterized by membrane depolarization
Mice develop normally but males and females are sterile due to defects in chromosome synapsis at meiotic prophase I (PubMed:27796301). Spermatogenesis proceeds normally up to prophase I until a massive apoptosis of spermatocytes takes place at stage IV (PubMed:27796301). Ovaries of female mice at 4 months of age display a lack of oocytes (PubMed:27796301)
Deletion results in diminished flaB expression and strongly impaired swimming motility
Reduced crown root development (PubMed:19258439, PubMed:26307379). Severe growth defects and lethality in adult plants (PubMed:19258439)
Partial deletion of this gene causes serious deficiencies in nodule development, nodulation competitiveness and nitrogen fixation on Phaseolus vulgaris plants (PubMed:16353552). Mutation affects the membrane lipid composition, particularly ornithine lipids (PubMed:16353552, PubMed:21205018). Mutant is deficient in OL hydroxylation and is more susceptible to acid and temperature stress (PubMed:21205018). Mutation causes an increase in nodule number that is reverted by the deletion of olsE (PubMed:21205018)
Cells lacking this gene become significantly more susceptible (16- to 32-fold) to penicillins as well as third-generation cephalosporins and carbapenems. They have no detectable beta-lactamase activity
Morphological defects including short roots, abnormal phyllotaxy with defects in adaxial-abaxial polarity of leaves, highly serrated and asymmetric leaves, and fasciation, as well as defective patterns of cell division and differentiation in meristems and during embryogenesis. Constitutively activated DNA damage responses associated with a defect in G2/M cell cycle progression, but no activation of transcriptionally silenced genes. Hypersensitive to DNA-damaging agents such as the DNA cross-linking agent mitomycin C (MMC) and the DNA-alkylating agent methyl-methane sulfonate (MMS). Reduced frequency of intrachromosomal homologous recombination
No visible phenotyper under normal growth conditions
Knockout Gskip mice die at birth. At 18.5 dpc, embryos are still alive but rapidly die within 5 to 30 min after casarean section. Embryos obtained at 18.5 dpc are cyanotic, suffer from respiratory distress, and fail to initiate breathing properly
Double knockout of Mterf1a and Mterf1b results in viable animals with no gross phenotype, and normal oxidative phosphorylation capacity. Steady-state mitochondrial DNA levels are normal. There are subtle effects on levels of mitochondrial transcripts: transcripts initiated at the light strand promoter and also downstream of the MTERF binding site are increased, levels of 7S RNA are reduced, while levels of other mitochondrial transcripts are normal
Triple hdrA1C1B1 deletion decreases methane production from methanol, but does not affect methanogenesis from acetate. Deletion results in up-regulation of CoB-SH and CoM-SH synthesis and transport, and methylsulfide methyltransferases
In adults, RNAi-mediated knockdown in insulin-producing cells or all Dsk-expressing cells, increases total food intake and the number of feeding bouts over a 24 hour period (PubMed:25187989). However, feeding them the CCK antagonist SR 27897 does not result in a further increase in total food intake and feeding bouts, as in wild-type adults (PubMed:25187989)
Viable and fertile, when reared on a soft diet. Tooth morphology is grossly normal but the enamel surface is fragile and rapidly abraded. Although formation of the enamel layer is initially normal, the crystallites fail to thicken and interlock. The enamel proteins enamelin and amelogenin are not cleared and persist in the matrix during the maturation stage
Normal infection and development in host erythrocytes (PubMed:31148576). Normal gametocyte production and male gametocyte activation (PubMed:31148576)
Deletion shows increased swimming motility, decreased biofilm formation and very limited ability for competitive colonization of rhizosphere
Hyposensitivity to abscisic acid (ABA) (PubMed:17217461). Reduced expression levels of aleurone-related genes (e.g. CP1, CP, GASA1, BXL1 and BXL2) in seeds. The triple mutant myb33 myb65 myb101 has a male sterility and exhibits slower protein storage vacuoles (PSVs) vacuolation rate in aleurone layers upon seed germination (PubMed:20699403). Reduced production of abnormal pollen grains with misarranged male germ unit (MGU) (PubMed:22101548). The triple mutant myb97 myb101 myb120 is impaired in pollen tube growth arrest and subsequent sperm cell release in the female gametophyte thus leading to a drastically reduced fertility. Altered pollen tube-specific gene expression (PubMed:23791732, PubMed:24278028)
RNAi-mediated knockdown results in increased levels of ced-1
Disruption of the gene increases the rates of A:T to C:G transversion a thousandfold over the wild type level
Homozygous mice lacking SLC7A11 are healthy in appearance at the age of 6 months, develop normally and both males and females are fertile (PubMed:16144837). Mice contain approximately the double of plasma L-cystine concentration and approximately the half of glutathione concentration compare to the wild-type mice (PubMed:16144837). Subtle gray (sut) homozygous mice have reduced yellow hair pigment but the black pigment seems unaffected (PubMed:16037214). Sut mice exhibit a normal body weight but brain size is significantly reduced indicating an atrophy in certain brain tissues. Indeed, sut/sut mice exhibit pronounced enlargement of the ventricles, accompanied by thinning of the cortex and shrinkage of the striatum (PubMed:17035536)
Homozygous knockout mice are normal, reproduce and behave normally. No gross or histological abnormalities in major organs, including the brain are observed (PubMed:11287665). The phosphatidylinositol 4,5- bisphosphate-signaling pathway in cerebral cortex and long-term potentiation are affected (PubMed:11287665)
In null mice, 11-keto corticosteroids cannot be reduced to active 11-hydroxy forms (PubMed:9405715). Plasma corticosterone levels actually are elevated at the diurnal nadir (PubMed:9405715). Males display adrenocortical hyperplasia (PubMed:9405715). During starvation, induction of hepatic glucose-6-phosphatase (G6Pase) mRNA and enzyme activity is lost and the induction of phosphoenolpyruvate carboxykinase (PEPCK) is attenuated (PubMed:9405715). Liver glycogen levels significantly increase in the fed state (PubMed:9405715). The liver shows a phenotype of partial glucocorticoid deficiency, despite somewhat increased basal plasma corticosterone levels (PubMed:9405715)
Homozygous knockout mice exhibit early onset progressive hearing loss
Increased seed dormancy. Long hypocotyl phenotype under red, far-red, and blue light
Mutation of the gene leads to derepression and increased expression of htm (PubMed:27432954). Inactivation of the gene confers resistance to the imidazo[1,2-a]pyridine-4-carbonitrile-based agent MP-III-71, an effective antimycobacterial compound that shows no cross-resistance to existing antituberculosis drugs (PubMed:26303802)
Mice display normal synapse formation but abnormal synaptic vesicle maturation and die shortly after birth. Heterozygotes exhibit impaired insulin secretion and abnormal glucose tolerance
Embryonic lethal with severely defective embryonic morphogenesis with no endoderm and excess mesoderm (PubMed:9288749, PubMed:18160347). In addition, embryos have defective mitotic spindle orientation in the 8-cell stage ABar blastomere (PubMed:9288749, PubMed:16678095)
Mice are resistant to necroptosis, characterized by a decrease in epithelial cell death and an increase in virus replication (PubMed:22423968, PubMed:27746097, PubMed:27917412). At a modestly lethal dose of influenza A virus (IAV), mice display significantly increased rates of mortality, probably caused by a failure to eliminate infected cells and limit virus spread in pulmonary tissue (PubMed:32200799). Perinatal lethality observed in Ripk1 knockout mice is rescued in knockout mice lacking both Ripk1 and Zbp1 (PubMed:27819681, PubMed:27819682). Skin inflammation observed in Ripk1(mRHIM) mutant mice is abrogated in Ripk1(mRHIM) mutant mice that also lack Zbp1 (PubMed:27819681)
No visible phenotype. Mice develop chronic demyelinating polyneuropathy after 60 weeks. Mice show abnormally low iron levels throughout the body, and are mildly anemic. Iron accumulates in duodenum enterocytes, suggesting impaired transport from the intestine to the blood. Mice deficient for both Prnd and Prnp have the same phenotype as mice lacking Prnd; they are born at the expected Mendelian rate and appear grossly normal and healthy (PubMed:15161660, PubMed:15007175). Females are fertile, but males deficient for both Prnd and Prnp are sterile, in spite of normal mating behavior (PubMed:15161660, PubMed:15007175). Male sterility is due to impaired acrosome reaction (PubMed:15161660). Mutant sperm are able to fertilize oocytes in vitro, but many of the resulting embryos die before the morula stage (PubMed:15161660). Mutant sperm cells have elevated levels of DNA damage and DNA strand breaks, and this may be the cause for embryonic lethality (PubMed:15161660). Aging mice deficient for both Prnd and Prnp do not display loss of cerebellar Purkinje cells or develop ataxia, and do not develop neurological defects (PubMed:15007175)
In the double mutant eds1-2 dmr6-1 and in dmr6-2, reduced susceptibility to the downy mildew pathogen Hyaloperonospora arabidopsidis (PubMed:15986928, PubMed:18248595, PubMed:25376907). Reduced hyphal growth due to immature haustoria, often with aberrant shapes (PubMed:15986928, PubMed:18248595). Reduced susceptibility to Pseudomonas syringae pv. tomato DC3000 and the oomycete Phytophthora capsici, associated with enhanced defense gene expression and elevated salicylic acid levels (PubMed:25376907). Normal susceptibility to P. syringae pv. tomato and Golovinomyces orontii (PubMed:15986928). Enhanced expression of a subset of defense-associated genes (PubMed:18248595)
Reduced resistance to Hyaloperonospora arabidopsidis isolate Hiks1
Mice die in utero between 9.5 dpc and 10.5 dpc. They appear normal at 8.5 dpc-8.75 dpc but display cardiac dysgenesis at 9.0 dpc-9.5 dpc with profound hypoplastic ventricular walls and absence of ventricular trabeculae and have a significantly lower heart rate than wild type embryos. Mutants show up-regulation of Cdkn1c/p57KIP throughout the ventricular wall while levels of Mef2c and Nkx2-5 are normal at 8.5 dpc-8.75 dpc but are down-regulated at 9.25 dpc-9.5 dpc
Slightly enlarged leaves, small siliques with few seed set, severely reduced fertility mainly due to reduced stamen filament elongation and defects in pollen development. Increased polyploidy levels in cotyledon and leaf cells
Cells lacking this gene loss their ability to grow on D-lysine and also on D-proline as a sole carbon source. Moreover, the mutant strain grows only slowly in the medium containing L-lysine as a sole carbon source in contrast to the wild-type strain. No difference is evident between the two strains in other media containing as a sole carbon source L-pipecolate, L-proline, and the following D-amino acids: D-alanine, D-valine, D-leucine, D-isoleucine, D-serine, D-threonine, D-aspartate, D-glutamate, D-glutamine, D-arginine, and D-phenylalanine
Homozygous deletion-mutant flies are not viable. The larvae are smaller but do not display obvious morphological phenotype. RNAi-mediated knockdown in sensory neurons affects flies movement coordination and impairs hearing. Testis-specific RNAi-mediated knockdown does not alter spermatogenesis and in particular the formation of sperm axonemes but it impairs sperm motility
Decreases CHS3 chitin synthase activity (PubMed:9234668). Decreases cellular chitin level (PubMed:9234668). Resistance to Calcofluor White (cell wall stressor) (PubMed:9234668). Normal CHS3 RNA level (PubMed:9234668). Decreases conjugation frequency (PubMed:9234668)
Death during early embryonic development. The inner cell mass cells of mutant embryos died of apoptosis
Mice are fertile and no negative selection against the absence of the protein is apparent. Newborn do not display hypotonia, respiratory distress or gross anatomical abnormalities. However, a progressive muscle weakness a hall mark of myopathies is observed. Muscles from mature mice show variation in fiber size, increase fiber degeneration and fibrosis. They also display age-related progression in atrioventricular conduction defects that are reminiscent of congenital myotonic dystrophy
No visible phenotype. Cells lacking both RUB1 and CAND1 show defects in morphological, growth and protein degradation, consistent with a reduction in SCF ubiquitin ligase activity
Pollen tube (PT) overgrowth inside the female gametophyte (FG) without PT rupture. Premature burst immediately after PT germination. Dwarf plants accumulating anthocyanins and dying prematurely in RNAi conditions. Impaired accumulation of ANX1 and ANX2 proteins
Cd22/Siglec10 double-deficient mice develop autoimmune disease, which is not observed in single-deficient mice
Defective in root hair expansion (PubMed:20562230). Mutant plants are resistant to the inhibitory effect of intermediate levels of indole-3-butyric acid (IBA) and 2,4-DB on root elongation (PubMed:18725356, PubMed:19043666)
Morpholino knockdown of the protein causes severe curvature of the body at 72 hpf. Morphants also exhibit hydrocephalus, abnormal otoliths and disturbed left-right asymmetry patterning. Some animals (17%) tend to develop pronephric cysts. At the 7-somite stage, cilia number and length are reduced in the Kupffer's vesicle. At 60 hpf, cilia motility is markedly impaired in the pronephric duct
Results in the significant down-regulation of cluster A, whereas it exerts no influence on cluster B
Hypersensitivity to ultraviolet-B (UV-B) illumination leading to short hypocotyls under UV-B; the sensitivity to UV-B is alleviated by the disruption of UVR8 and requires the presence of COP1 and HY5 (PubMed:25193399, PubMed:28735869). The double mutants dhu1-1 cop1-6 and dhu1-1 hy5-215 phenotypes resemble that of single mutants cop1-6 and hy5-215, respectively (PubMed:28735869). The UV-B responsiveness of the double mutant dhu1-1 rup1-1 is similar to that of the single mutants dhu1-1 and rup1-1 (PubMed:28735869)
No visible phenotype and slightly decreased ascorbate levels; due to the partial redundancy with VTC2. Vtc2 and vtc5 double mutants show growth arrest immediately upon germination and are not viable
Null deficient mice are not viable. Extraembryonic ectoderm shows a greatly increased number of cells in S phase. In the trophectoderm cells are blocked to entry into S phase. Embryonic stem (ES) cells form tightly packed cell clusters with prominent actin cables and aberrant adhesions. ES cells are retained in proliferation, yet retain their pluripotency
Morpholino knocked-down fishes have smaller brain and significantly diminished motility compared to controls, in association with disorganized muscle fibers. Morphants die between 3-4 days post-fertilization (dpf). Other organs such as eyes and heart are not affected by golga2 knockdown
Impairs gliotoxin production (PubMed:16757745, PubMed:16956378, PubMed:17601876). In vitro, the culture supernatant of the gliP-deficient strains show a reduced cytotoxic effect on both macrophage-like cells and T-cell lines. Shows attenuated virulence in nonneutropenic mice immunosuppressed with corticosteroids, but normal virulence in neutropenic mice (PubMed:18199036). It also has reduced virulence in a Drosophila melanogaster model (PubMed:18199036)
Mutant does not release methanethiol and does not show an increase in 1-deoxy-D-xylulose 5-phosphate formation after 5'-methylthioadenosine (MTA) feeding. Mutant accumulates a mixture of 1-methylthioxylulose 5-phosphate (MTXu-5P) and 1-methylthioribulose 5-phosphate (MTRu-5P) (PubMed:23042035). Inactivation of the gene increases ethylene production from MTA-grown cells (PubMed:29133429)
Lethal in homozygous plants (PubMed:27923039). Abolished CO(2)-mediated stomatal closure (PubMed:27694184, PubMed:27923039). Increased stomatal opening (PubMed:27923039)
Cells lacking this gene have no discernible phenotype with respect to sporulation, motility or growth (PubMed:9004506). Significantly increased amounts of BglS, Epr, Vpr, YclQ and YwsB; decreased amounts of AbnA, PorE, Csn, YncM, Yxal and YweA are detected in the extracellular proteome (PubMed:11987133)
No visible phenotype on cell wall acetylation in single mutant (PubMed:21212300). Severe growth phenotypes (e.g. dwarf and abnormal flower organs) associated with reduction in the secondary wall thickening and the stem mechanical strength in the quadruple mutant rwa1 rwa2 rwa3 rwa4 and characterized by reduced xylan acetylation and altered ratio of non-methylated to methylated glucuronic acid side chains. Absence of interfascicular fibers and xylem cells differentiation (PubMed:21673009, PubMed:24019426). The triple mutants rwa1 rwa2 rwa3, rwa1 rwa3 rwa4 and rwa2 rwa3 rwa4 are also dwarfs with abnormal morphology. Altered O-acetylated xyloglucans (XyG) oligosaccharides (XyGOs) composition (PubMed:24019426)
Impaired growth and survival under salt stress. Reduced H(2)O(2) production. Hypersensitivity to T-2 toxin and DAS (but not to DON), accompanied by enhanced SA accumulation and several plant defense gene induction. Less susceptible to Pst DC3000
Induced vulval precursor cells in the absence of lin-15A (PubMed:15990876). Multi-vulval phenotype is apparent when grown at 24.5 degrees Celsius in the absence of lin-61 and when grown at 20 degrees Celsius in the absence of hpl-2 or met-1 (PubMed:17634190, PubMed:21437264). Reduced lamin interaction of chromosome arms in the absence of set-25 (PubMed:22939621). Increased apoptosis and increased occurrence of the recombination checkpoint XO germ lines (PubMed:21909284). High incidence of endomitotic oocytes (PubMed:20107519). In spr-5 null mutants, accelerates the progressive sterility over generations, which is seen in spr-5 mutants with complete sterility achieved by generation 2 (PubMed:24685137)
No effect on export of cell wall protein GspB
Mice develop to adulthood and are fertile (PubMed:8637595). Show a reduction in the number of retinal ganglion cells (RGC) and a thinner optic nerve compared to wild-type mice (PubMed:8637595, PubMed:8632990, PubMed:10357904). Show RGC axon pathfinding alterations along the central visual pathways (PubMed:10357904, PubMed:11163266). Show an alteration in the expression levels for several genes involved in the differentiation of RGCs (PubMed:24643061, PubMed:25775587). Display an increase in DLX1 and DLX2 mRNA expression in the embryonic retina, especially in the ganglion cell layer (PubMed:21875655)
Does not affect the production of xenovulene A
Knockout mice die during embryogenesis (PubMed:15479741). Embryos show accumulation of blood in the pericardial and peritoneal cavities, and absence in the head, dorsal trunk and yolk sac at 10.75 dpc followed by a significant decrease in viable embryos at 11.5 dpc (PubMed:15479741). Embryonic heart formation is abnormal showing reduced trabeculation in the heart ventricles and thinning of the atria walls (PubMed:15479741). Loss of DSP and DSG2 localization at cell-cell junctions in cardiomyocytes, DSP localizes to granular aggregates in the cytoplasm which are surrounded by disordered swirls of intermediate filaments (PubMed:15479741). Loss of fascia adherens-like and desmosome-like cell junctions at the intercalated disks (PubMed:15479741)
No visible phenotype in females; they are viable and fertile. Male mice are infertile, due to a defect in late stages of spermatogenesis
Stong decrease of tocopherol (vitamin E) content in seeds
According to PubMed:9159522, insertion mutant shows a modest reduction in sigma-E (rpoE) activity. However, PubMed:9159523 shows that deletion of the gene has no effect on sigma-E activity (PubMed:9159522, PubMed:9159523). Deletion of the gene enhances soxS expression (PubMed:12773378). Mutant shows increased motility and biofilm formation (PubMed:18344336). Deletion mutant is more sensitive than wild-type specifically to hydrogen peroxide exposure, but not other stresses (PubMed:24580753)
Morpholino knockdown induces severe developmental defects including dorsal open phenotype and the reduction of head and tail structures at the tailbud stage
Eyes are brown due to a defect in red pigment production (PubMed:10407069). In Malpighian tubules, guanine uptake is impaired (PubMed:117796). Reduces the levels of several metabolites, including kynurenine, kynurenic acid, 3-hydroxykynurenine, guanosine, xanthine, urate, riboflavin, and tetrahydrofolate, and increases the levels of guanine (PubMed:33820991). In the head, levels of neurotransmitters histamine, dopamine and serotonin are reduced; specifically, histamine is reduced in the retina (PubMed:18931318). Severe loss of white protein in the retina lamina and photoreceptors (PubMed:18931318). In addition, in lamina photoreceptor terminals R1-R6, number of synaptic vesicles is reduced (PubMed:18931318). Inhibits aging-induced intestinal stem cell proliferation (PubMed:33820991)
Dwarf plants with lesion mimic phenotype and increased expression of the pathogenesis-related genes PR1, PR2 and PR5. Delayed flowering, impaired development of anthers and short siliques with sterile seeds
Cells lacking this gene are unable to grow in the absence of an external carbon source when grown with fatty acids acetate, valerate, or butyrate as the sole carbon source. This mutant also fails to replicate in mouse lungs. PEPCK depletion during the chronic phase of infection results in mycobacterial clearance
Lethality; the majority of mice on the 129/Svj background die in utero or within weeks of birth because of many extra cells within the brains of these animals (PubMed:8934524). Defects are caused by impaired apoptosis (PubMed:8934524). Mice lacking Casp3 on the C57BL/6J background are viable (PubMed:16469926). Mice lacking Casp3 and Casp7 on the C57BL/6J background die immediately after birth because of defective heart development (PubMed:16469926). This suggests that Casp7 can partially rescue Casp3 in certain conditions (PubMed:16469926)
Mutant mice have lower body weight than their littermates throughout their lifespan and low fertility, due to impaired calcium homeostasis. Mutant mice display strongly impaired intestinal Ca(2+) uptake and increased urinary Ca(2+) levels (PubMed:17129178). Still, their serum Ca(2+) levels are normal, probably due to compensation by another calcium channel (PubMed:17129178, PubMed:20399919). In spite of this, mutant mice display decreased femoral mineral density; also when they are fed a high-calcium diet (PubMed:17129178). In contrast, no difference in bone density was observed in another study; mutant and wild-type mice displayed similar values when fed a normal diet, and a similar reduction in bone mass when fed a low-calcium diet (PubMed:20399919). Besides, the majority of mutant mice display alopecia and develop dermatitis (PubMed:17129178)
Reduced egg laying and lifespan. Delayed larval development. Enhanced resistance to pathogens, heat and oxidative stress. Reduced survival in the presence of cadmium. Inactivation of the ufm-1 cascade
RNAi double mutants MKK4 and MKK5 have a strong abscission defect. Higher sensitivity to high salt and drought stresses
Abolishes production of trichodimerol and dihydrotrichotetronin in darkness (PubMed:28809958). Also impacts production of paracelsin in a light dependent manner, with decreased paracelsin levels in light, but likely in an indirect way (PubMed:28809958)
The daf-9 mutant is dauer-like in head shape, cuticle, and deirid ultrastructure, intermediate in amphid and inner labial neuron morphology, and nondauer or abnormal in the intestine (PubMed:3350212). Also, the daf-9 mutant exhibits abnormal reproductive development, molting defects and increased adult longevity (PubMed:11782415)
Produces significantly smaller lesions and fewer spikelets with blight symptoms on susceptible wheat cultivars
Morpholino knockdown of the protein results in impaired neurogenesis in posterior regions. Expression of the neural precursor marker ngn1 is reduced at the one- to three-somite stage. At later stages, there is a significant reduction in islet1-expressing primary motoneurons and defective axon outgrowth from motoneurons. Formation of Rohon-Beard neurons is initially abnormal but later recovers. Development of secondary neurons is not affected
Mutant mice are born at the expected Mendelian frequency, but none survives beyond day 2 due to an extensive triacylglycerol accumulation in enterocytes associated with very low blood glucose levels at birth (P1.5) (PubMed:25806685, PubMed:25898003). Conditional knockdown in intestine results in hyperproliferation of the intestinal crypt and increased susceptibility to intestinal tumorigenesis (PubMed:29395055)
Embryonic lethality at 15 dpc, likely due to heart failure. Mutant mice present complete block of de novo cholesterol synthesis at 14.5 dpc. Heart abnormalities include hypoplasia combined with ventricle septum and epicardial and vasculogenesis defects. Skeletal abnormalities include facial hypoplasia, brachycephaly, and bowed and jointed bones of the extremities with camptodactyly. Can serve as an animal model for studying Antley-Bixler syndrome
TARDBP depletion leads to atrophy of spinal motor neurons. Affects motor axon, neuromuscular junction and skeletal muscle
Cells lacking this gene have a 225-fold increased spontaneous mutation frequency. Double or triple disruptions with mutL/nth do not change the frequency
Decreased amounts of the 1-O-P-PEtN form of lipid A
Cells lacking this gene show no impaired growth on minimal medium but addition of 5-deoxyribose inhibits growth at a higher level than wild-type. Moreover, the intracellular level of 5-deoxy-D-ribulose 1-phosphate increases in wild-type cells supplied with 5-deoxyribose, but not in the deletion mutant cells
Dwarfism, caused by a severe defect in endochondral ossification at the growth plates
Radially symmetric flowers. Loss of functional stamens in dorsal positions. Organs reduction with five organs per whorl rather than six
Morpholino-injected embryos display altered tail morphology, impaired swimming and defective touch-evoked escape responses. Neuromuscular junction development is abnormal and motor axon terminals show short and erratic outgrowth toward the muscle fiber with no evidence of complete synapse formation. In addition, knockdown embryos often show edema of the hindbrain, heart, yolk sac and tail
Inactivation leads to capreomycin resistance
Mutants produce spermatocytes that complete meiosis but do not usually form functional. Show defective vesicular biogenesis during spermatogenesis with morphogenesis failure of the specialized Golgi-derived fibrous body-membranous organelle (FB-MO) complexes. Show disrupted processing of endocytosed proteins in oocytes and coelomocytes
Dramatic increase in root nodule number when inoculated with Sinorhizobium meliloti (PubMed:16240175, PubMed:16941903, PubMed:22168914). Inhibition of root growth in both the presence and absence of rhizobia (PubMed:16240175). Increase in arbuscular mycorrhizal (AM) fungus colonization intensity in roots (hypermycorrhizal phenotype) when inoculated with AM fungi (PubMed:16941903)
When associated with PI4KB1 disruption: aberrant root hair morphologies, and short and wavy pollen tubes
Displays phenotypes characteristic of cell wall defects such as hypersensitivity to calcofluor white and resistance to K1 killer toxin, and results in a 50% reduction of cell wall beta-1,6-glucan level (PubMed:9363442). Abolishes glucosidase I activity (PubMed:9363442)
Plants develop short elongated root hair with kinks and swellings along their length
Single gene deletion, loss of magnetic response, about 30% iron content. Forms magnetosome chains without magnetosome crystals (PubMed:20674739). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
During neuroblast differentiation, mutants produce an additional precursor cell for the HSN/PHB, I2, M4 and PLM/ALN and Q.a and Q.p lineages. The nucleus size of the 2 Q.p daughter cells is similar (PubMed:16774992). Symmetrical distribution of myosin II during QR.a cell division (PubMed:20929735). Abnormally high number of ADE neurons (PubMed:28659600). Double knockouts of pig-1 and ced-3 have impaired cell shedding during embryogenesis which results in the generation of an ectopic excretory cell and an ERM-like neuron. In addition, mutants show a delay in clearance after engulfment of cell corpses which is associated with the abnormal expression of cell adhesion molecules (PubMed:22801495)
Cells lacking this gene do not produce Sifs in epithelial cells and show attenuated virulence in mice
Impairs the production of bikaverin and its intermediate oxo-pre-bikaverin (PubMed:12409099, PubMed:19400779, PubMed:26382642)
Male and female sterility due to defects in meiosis
Abolishes the production of pyriculol, pyriculariol, as well as of their dihydro derivatives dihydropyriculol and dihydropyriculariol
Reduces zinc transport into the vacuole and hence limit the over-accumulation of zinc caused by the deletion of ZRT3
Embryonic lethality. Embryos die at preimplantation stage
Impairs the synthesis of terretonin but accumulates terrenoid (PubMed:23116177)
Mice display systemic hypertension associated with cardiac hypertrophy and ventricular enlargement
RNAi-mediated knockdown does not cause any visible phenotype (PubMed:20977550). Causes 82 percent embryonic lethality (PubMed:23649807). One-cell embryos have defects in pronuclei positioning and spindle orientation during prophase; however the duration of cell division and establishment of embryo polarity are normal (PubMed:23649807). During prophase, increases active air-1 and to a lesser extent zyg-9, plk-1 and spd-2, accumulation at centrosomes, centrosome size and microtubule growth rate (PubMed:23649807). Simultaneous RNAi-mediated knockdown of air-1 restores normal pronuclei positioning and spindle orientation but not embryonic lethality (PubMed:23649807). Simultaneous RNAi-mediated knockdown of ubxn-1 and ubxn-3, causes 50 percent embryonic lethality (PubMed:20977550). The surviving hermaphrodite progeny are sterile due to a lack of sperm (PubMed:20977550). Abnormal accumulation of sex determination terminal factor tra-1 (PubMed:20977550). Germline development is normal (PubMed:20977550). In males, sperm production is normal (PubMed:20977550)
Worms display embryonic lethality. When vha-11 is silenced in adults, they are able to produce eggs but egg numbers gradually decrease and worms become sterile after 24 hours. This sterility continues for about 4 days and then viable eggs are produced again
Mutant animals show survival rates similar to wild-type until 16.5 dpc. Then mortality increases and no animals survive beyond weaning age. At 18.5 dpc, the lungs of mutants mice show a thicker mesenchyme and smaller alveolar space than those of wild-type animals
Defective in endocytosis. Displays substantially delayed constriction of the actomyosin ring and dissociation of type 2 myosin and septum materials at the end of cytokinesis
Not essential for growth, no effect on NHEJ. In quadruple ligB-ligC1-ligC2-ligD deletions NHEJ on blunt and 5'-overhangs is 0.22 and 0.12% of wild-type respectively; only 4-fold decrease in 3'-overhang NHEJ
Cd8a-deficient mice prevent the development of class I MHC restricted cytotoxic T-cells. However, maturation of class II MHC restricted T-helper cells seems to be unaffected by the absence of Cd8a
RNAi-mediated knockdown causes an increase in PI3P levels in intracellular vesicles. Also causes an increase in germline cell corpse engulfment, although corpses fail to be cleared. RNAi-mediated knockdown in ced-1, ced-6, ced-2, ced-10 or ced-7 mutant background partially restores cell corpses engulfment
Plants exhibit reduced fertility and meiotic defects (PubMed:17762870). Drastic decrease in chiasma formation at metaphase I associated with an absence of synapsis in prophase, due to the inability to make double-strand breaks (DSB) (PubMed:19763177)
Semilethal: animals can complete metamorphosis, but most of them die as pharate adults unable to emerge from the pupal case; surviving flies are weak, fail to unfold their wings properly and die within 24 hr. The eye color is similar to wild type flies. In larvae, results in the development of hemocyte-derived melanotic tumors in body cavities, accumulation of crystal cells and lamellocytes and disorganization of the sessile hemocyte compartment which might be connected to the abnormal increase of circulating hemocytes. In garland cells, uptake from the hemolymph, endosome formation and endo-lysosomal trafficking are defective and result in enlarged cells; late endosomes and endolysosomes are fragmented and erroneously distributed in the cytoplasm instead of being found in a layer directly beneath peripheral early endosomes. In hemocytes, acidification of endocytic vacuoles containing bacteria is defective. In wing imaginal disks, there are no endosome defects
Knockout mice are born at the expected Mendelian rate (PubMed:23602766). When compared to wild-type littermates, deficient mice show resistance to lethal systemic inflammation caused by exposure to mycobacterial cord factor/trehalose 6,6'-dimycolate (TDM) (PubMed:23602766). Mice are also susceptibility to C.albicans infections (PubMed:23911656)
Strong defects in seed mucilage extrusion; no mucilage capsule formation and slightly irregular columellae in seeds. Altered structure of mucilage that accumulates abnormal levels of substituted rhamnogalacturonan I and methyl-esterified homogalacturonan. Increased amount of most sugars associated with an increase in methylation of the mucilage and/or primary cell wall pectins (PubMed:11706181, PubMed:21362134, PubMed:21402796, PubMed:21518777). Reduced MUM2 expression in seed coat and embryo. Shorter roots (PubMed:21402796). Enhanced tolerance to salt and osmotic stress conditions (PubMed:24564815). In plants lacking both LUG and LUH, embryo lethality and abnormal flowers (PubMed:18390806). Enhance the polarity and growth defects of luh/+ lug mutant leaves, being partially abaxialized (PubMed:19837869)
Early flowering (PubMed:19726574, PubMed:19855050). Reduced seed dormancy and increased germination rate of freshly harvested seeds (PubMed:21799800)
RNAi-mediated knockdown results in male tail tip defects
Increased plasmodesmatal permeability leading to an increase in intercellular protein trafficking (PubMed:22457425). Growth-defective due to cellulose deficiency, impaired cell elongation and altered cell division in root meristems, thus leading to stunted plants (PubMed:15010620, PubMed:10859181, PubMed:12215501). When light-grown, dwarf, with very short root and lateral organs (e.g. leaves) extremely reduced in size, as well as abnormal vascular tissues, characterized by twisted vascular bundle and the presence of undifferentiated vascular cells (PubMed:15010620, PubMed:24995569). Accumulation of ectopic lignin, especially in the mature part of the root, of ectopic callose accumulation in hypocotyls, and of ectopic suberin around the vascular bundles in roots and hypocotyls (PubMed:15010620, PubMed:10859181, PubMed:12215501). Photomorphogenesis in the dark, absence of etiolated phenotype, with extremely short hypocotyls, shoot development, and inflorescences and flowers production (PubMed:15010620, PubMed:24995569). Inability to grow in soil (PubMed:15010620, PubMed:14742875). The cell wall is constituted by abnormally randomized microfibrils occluded by a layer of pectins probably due to a defect in the synthesis of crystalline cellulose during the elongation phase of the cell (PubMed:15010620, PubMed:24995569). Abscisic acid- (ABA-) resistant germination associated with defective stomatal regulation, altered ABA-responsive gene expression, delayed flowering, and male sterility (PubMed:14742875). Glucose- (Glc-) dependent growth with impaired Glc sensitivity that normaly induces seedling developmental arrest; Glc reverses partially disruption phenotypes (PubMed:14742875)
Faster decay of GAP42 mRNA
Cold sensitive (PubMed:26942678). Decreases degradation of mRNA containing a DSR (determinant of selective removal) region (PubMed:26942678). Abnormal meiRNA nuclear dot formation in zygote (PubMed:26942678). meiRNA dot formation in haploid cells (PubMed:26942678)
Mice exhibit considerable phenotypic variability, depending in part on the strain. In one strain pups are born at the expected Mendelian frequency, while in another strain up to one third die during embryogenesis. Mutants that reach adulthood are fertile, but have on average three pups per litter instead of ten in wild-type. Mutants have an apparently normal immune response, with no defects in the development of T and B-lymphocytes, granulocytes, macrophages and dendritic cells. Mutants have respiratory problems, due to developmental defects of the trachea, stem bronchi and rib cage. They exhibit severe skeletal alterations at the level of the spinal column, including scoliosis and kyphosis, and have curly tails. Many also display neural tube closure defects
Increment in the number of lateral roots, and moderate increase in the length of the primary root (PubMed:17369372). Enhanced disease resistance to the fungal pathogen Fusarium graminearum (PubMed:26075826). Enhanced susceptibility to the bacterial pathogen Pseudomonas syringae pv tomato DC3000 (PubMed:22199234, PubMed:23526882). The double mutant plants lox1 and lox5 exhibit enhanced susceptibility to the bacterial pathogen Pseudomonas syringae pv tomato DC3000 and the biotrophic powdery mildew pathogen Golovinomyces cichoracearum (PubMed:26417008)
A slight increase in biofilm formation in a csrA-disrupted background; when combined with a spoT disruption (a ppGpp0 mutant) there is a very large increase in biofilm formation (PubMed:19460094). The ppGpp0 mutant makes decreased levels of CsrA and its inhibitory small RNAs (sRNA) CsrB and CsrC (PubMed:21488981). Deletion of relA alone decreases persister cell formation in a hipA7 mutant; the double relA/spoT deletion obviates persister cell formation (PubMed:14622409, PubMed:26051177)
Mutants exhibit a growth deficiency and a severe impairment in skeletal muscle regeneration following injury (PubMed:12446708, PubMed:10792059). They show atrophic skeletal muscles and their satellite cell function is impaired (PubMed:10792059). Double knockouts of CDKN1A and FOXK1 don't show significant differences compared to wild-type (PubMed:12446708)
No overt phenotypic abnormalities. Histologic analysis of the eyes reveales a colobomatous phenotype, with delayed apposition of the optic fissure margins and persistence of an anterior retinal coloboma phenotype after birth. Deficient embryos display correct posterior closure toward the optic nerve head, and upon contact of the fissure margins, dissolution of the basal lamina occurs and PAX2, known to be critical for this process, is expressed normally. Anterior closure is disrupted with the fissure margins failing to meet, or in some cases misaligning leading to a retinal lesion
Does not emit any sesquiterpene volatiles except (E)-beta-caryophyllene, alpha-copaene and alpha-humulene
Short roots and hypocotyls due to both a reduced cell number and reduced cell elongation (PubMed:25062973). Plants missing both PSI1 and PSI3 are dwarf and contain reduced starch levels; these phenotypes are partially rescued by sucrose (PubMed:25062973)
Mice develop normally, exhibit no overt phenotype, but are infertile (both males and females). Testis lack postmeiotic cells due to massive elimination of spermatocytes, while females show degeneration of the ovaries, lacking growing follicles and mature oocytes
Abolishes the production of arthripenoids
No effect on iraD expression (PubMed:28851853)
Increased sensitivity to glucose
RNAi-mediated knockdown results in defective spermatogenesis
Cells lacking this gene accumulate large amount of L-ribulose 5-phosphate when incubated with L-arabinose
No visible phenotype. Bic1 and bic2 double mutants have a blue light-hypersensitive short-hypocotyl phenotype and an increased anthocyanin accumulation when grown in continuous blue light
Morpholino knockdown of the protein exacerbated the convergence/ extension (C/E) phenotypes of other planar cell polarity (PCP) family member mutants (vangl2, scribbled)
RNAi-mediated knockdown at the bloodstream life cycle stage causes a growth arrest followed by death. Cells become abnormally round, the number of cells with 1N1K and 2N2K genetic content is decreased whereas the number of cells with more than 2N2K genetic content is increased. RNAi-mediated knockdown at the insect procyclic life cycle stage causes a growth arrest without cell death. Cells become abnormally round and about 40 percent have lost their flagella. The number of cells with 2N1K and 2N2K genetic content is increased whereas the number of cells with 1N1K and 1N2K genetic content is reduced. The number of cells without nuclear DNA (0N1K), known as zoids, is increased. In addition, protein expression levels of formin (Tb927.5.2300) and CAP/Srv2p (Tb10.6k15.1160) are severely reduced
Increased level of stearate (18:0) and reduced level of oleic acid (18:1) in leaves. Spontaneous lesion formation in leaf blades, retarded growth, slight increase in endogenous free salicylic acid (SA) levels and SA/benzothiadiazole (BTH)-specific inducible genes. Enhanced resistance to the blast fungus Magnaporthe grisea and leaf-blight bacteria Xanthomonas oryzae pv. oryzae
Double knockout of c3orf70a and c3orf70b resulted in significantly decreased expression of the mature neuron markers elavl3 and eno2 and the midbrain/hindbrain marker irx3b. Neurobehaviors related to circadian rhythm and altered light-dark conditions were significantly impaired
Disruption mutant releases negligible serine protease activity and does not affect plasma clotting
Cells lacking this gene are able to decarboxylate gallic acid and protocatechuic acid
RNAi-mediated knockdown in a lip-1 zh15 mutant background causes the descendants of P5.p and/or P7.p vulva precursor cells to adopt a mixed primary and secondary cell fate. Multivulva formation in 19 percent of animals. RNAi-mediated knockdown in a let-23 sy-1 mutant background partially restores vulva induction
No developmental phenotype, but reduced DNA methylation at RdDM target loci
No visible phenotype. Double mutants lacking both MWL1 and MWL2 exhibit smaller rosettes with a decrease in rosette fresh weight and stem height associated with a reduction in total lignin content and an increase in syringyl/guaiacyl (S/G) monomer ratio
Small root meristem and low root growth rate
Sensitive to hydrogen peroxide and tert-butyl hydroperoxide (t-BHP)
400-fold decreased cell survival in long-term growth, effects are more pronounced in minimal medium. No visible formation of 100S ribosomes, rapid degradation of ribosomes once cells have reached stationary phase
Abolishes the production of trichoxide, virensol A, virensol B and salicylaldehyde 5-deoxyaurocitrin
Abnormal activation of TORC1 signaling in nitrogen-replete conditions (glutamine or leucine nitrogen source), and during high hydrostatic pressure (mechanical stress) (PubMed:28993463, PubMed:29698392, PubMed:28483912, PubMed:32801125). Increases cellular levels of glutamine and alanine during high hydrostatic pressure (mechanical stress) (PubMed:32801125). Sensitive to rapamycin (TORC1 signaling-inhibitor), caffeine, and high hydrostatic pressure (mechanical stress) (PubMed:28993463, PubMed:29698392, PubMed:34535752, PubMed:26510498, PubMed:32801125). Abnormal TORC1-reactivation following inactivaton by rapamycin (TORC1 signaling-inhibitor) (PubMed:28993463). Resistance to tunicamycin (endoplasmic reticulum stressor) administered together with FK506 (calcineurin inhibitor) (PubMed:26510498). Abnormal localization of TOR1 to vacuoles (PubMed:28993463). Localization of GTR1 and GTR2 to vacuoles is normal (PubMed:28993463) Localization of TORC1 to vacuoles is normal (PubMed:28483912). Simultaneous disruption of GTR1 results in TOR1 mislocalization and loss of TORC1 activity and viability (PubMed:29698392). Simultaneous disruption of EGO1 results in loss of viability (PubMed:29698392). Macroautophagy appears normal (PubMed:28993463)
Leads to higher biomass concentration after diauxic shift
Half of the homozygous mice die during embryogenesis, the other 50% do not show any noticeable abnormality in development, growth or behavior and are fertile
Cells lacking this gene do not grow anaerobically with DMSO and do not show DMSO reductase activity, but their growth in the presence of oxygen and at 50 degrees Celsius is not affected. SAMP2 and SAMP3 cannot complement the samp1 mutation. tRNA thiolation is not affected
Mutation impairs colony surface architecture
Loss of responsiveness to and symbiosis with the arbuscular mycorrhizal fungi (AMF) Rhizophagus irregularis and Gigaspora rosea characterized by the absence of physical contact and of characteristic transcriptional responses to fungal signals
No visible phenotype at young age or under unchallenged conditions (PubMed:24386439, PubMed:28092655). At 80 weeks or under high fat diet feeding conditions, mutant mice develop hepatosteatosis with excessive liver weight and accumulation of cytosolic lipid droplets sometimes accompanied by fibrosis (PubMed:28092655)
Impaired primary root protophloem differentiation. Short primary root and increased number of lateral roots (PubMed:25049386, PubMed:28652362). Absent sieve element precursor division, occurrence of gap cells lacking actin filament, associated with a reduction in the number of early dividing protophloem cells, in root meristem size and root growth; these phenotypes are partially rescued in plants also missing MAKR5 (PubMed:25049386, PubMed:28652362, PubMed:27354416). Patchy expression of SUC2 (PubMed:25049386). Reduced cotyledon and leaf size. Enhanced response to abscisic acid-mediated inhibition of root growth and insensitivity to cytokinin induced inhibition of lateral root initiation. The double mutant brx ops double mutant has strongly reduced root length and meristem size, with missing protophloem strands (PubMed:28652362). The disruption of BAM3 restores root protophloem and mersitem phenotypes observed in brx mutants (PubMed:23569225). Ectopic overexpression of BAM3 but slightly reduced CLE45 levels in root meristems (PubMed:23569225)
Mice are born at the expected Mendelian rate. After three weeks, mice begin to display episodic eye blinking, twitching of whiskers, forlimb padding, arrested motion and a hyperstartle response. About 50% of the homozygotes die between the third and the fifth week after birth. Surviving mice continue to display spontaneous seizures occurring once or twice every hour throughout adult life (PubMed:9581771). The fecundity of homozygotes is extremely low (PubMed:9581771). Mutant mice display interictal cardiac abnormalities, including a fivefold increase in atrioventricular conduction blocks, brachycardia and premature ventricular contractions; this may lead to sudden unexplained death in epilepsy (PubMed:20392939). Mutant mice have slightly elevated heart rates; they all have a reduced livespan and are subject to sudden death after presumed seizure activity and sinus bradycardia (PubMed:25377007). About 70% of the mutant mice have an enlarged hippocampus and ventral brain cortex (PubMed:17250763). Mutant mice show a temperature-sensitive alteration in neuromuscular transmission, causing nerve hyperexcitability when exposed to cold and delayed repetitive discharge after a single nerve stimulation (PubMed:9736643). After 2 minutes of swimming in cold water, mutant mice have impaired motor control; they fall over when placed on dry ground and exhibit severe neuromyotonia with violent tremors that decrease with time, leading to full recovery after twenty minutes (PubMed:9736643). Mutant mice have an increased frequency of spontaneous postsynaptic currents in Purkinje cells, impaired ability to maintain their balance on a thin stationary rod, but perform as well as wild-type on a rotarod (PubMed:10191303). Mutant mice have a normal hearing threshold, but altered brainstem responses to auditory stimuli and reduced sensitivity to small changes in sound location (PubMed:22396426). Mutant mice display no alteration of the islet of Langerhans, but have reduced blood glucose levels and increased insulin secretion in response to a glucose stimulus (PubMed:21483673)
Dwarf phenotype and aberrant leaf shape
DNA damage repair defects following ionizing radiation with reduced ubiquitination at DNA damage sites (PubMed:16628214). RNAi-mediated knockdown results in elevated levels of chromosome non-disjunction that manifest as a high incidence of males, impaired progeny survival and chromosome fragmentation after irradiation and elevated levels of p53-dependent germ cell death before and after irradiation (PubMed:14711411). Absence of S-phase checkpoint function
Accumulation of ADO3 protein during the morning period and early flowering time
Mice mimic a fasted state and therefore, display an increased production of glucose. Display elevated levels of PCK1 and are glucose-intolerant in both a normal and a high-fat diet (PubMed:24415752). Mice develop more tumors including lymphomas, liver tumors, lung tumors (PubMed:25732823)
Inactivation of the gene increases the level of Spx protein and transcription of the Spx-regulated gene trxB (PubMed:22194450). Disruption leads to an increase in hla (alpha-hemolysin) transcription and proteases production (PubMed:16923874). It also leads to increased tolerance to the disulfide stress inducing compound diamide, increased peptidoglycan cross-linking, and moderate resistance to oxacillin and other beta-lactams antibiotics (PubMed:21947404)
Knockout Adcy7 homozygous mice die during embryogenesis (more than 93%). To obtain adult animals with Adcy7-deficient immune systems, the hematopoietic stem cells obtained from the rare adult Adcy7 homozygous mice are transplanted into lethally irradiated wild-type animals. All chimeric mice survived the transplant procedure and appeared healthy. Adcy7-deficient mice appear to be hypersensitive to lipopolysaccharide-induced endotoxic shock and display a higher mortality rate
Embryonic lethality at 16 dpc due to hepatocyte apoptosis
Impaired degradation of proteins with misfolded lumenal domains such as CPY*, a mutant, misfolded form of carboxypeptidase Y which is a known ERAD-L substrate. Impaired degradation of proteins with misfolded intramembrane domains. Impaired trans-ubiquitination and degradation of the HRD1 ligase. Degradation of proteins with misfolded cytosolic domains is not affected. Interaction of substrate with HRD1 is reduced; in USA1 and YOS9 double mutants this interaction is completely abolished
Disruption mutant is deficient in the biosynthesis of ornithine-derived lipids. It can still induce nitrogen-fixing nodules on legume hosts, but it shows delayed nodulation if compared to the wild type
In cells missing this gene some GerQ multimers are present, indicating that tgl is not essential. Heat treatment for 20 minutes at 60 degrees Celsius, which maximally activates the Tgl enzymatic activity, causes cross-linking of GerQ in isolated yabG-deleted spores but not in tgl/yabG double-mutant spores. Additionally, the germination frequency of the tgl/yabG double-mutant spores in the presence of L-alanine with or without heat activation at 60 degrees Celsius is lower than that of wild-type spores
Decreased number of trichomes in cauline leaves, lateral branches, sepals and main stems
RNAi-mediated knockdown reduces the rate of dauer formation following treatment with daumone, a pheromone which induces the dauer state (Ref.3, PubMed:30460068). RNAi-mediated knockdown results in a 10-20% increase in the average time interval between defecations in hermaphrodites (Ref.3, PubMed:30460068)
RNAi-mediated knockdown results in absence of phasmid socket cells
Chitin treatment does not lead to growth inhibition or reduced cell wall-associated depositions in contrast to the wild-type. No chitin-, chitosan- or chitin hexamer-induced MPK phosphorylation. Peptidyl glycan (PGN) from S.aureus does not induce MPK phosphorylation either. Reduced accumulation of PAL4 and CHS transcripts in response to chitin. Tissues fail to exhibit enhanced conductivity in an electrolyte leakage assay
Impairs the production of sorbicillinol (PubMed:29104566)
Mice are born at the expected Mendelian rate, are viable and fertile (PubMed:15504325, PubMed:15647357). They display subtle changes in exploratory behavior, manifest deficits in spatial working memory performance, and show impaired ability to stay on a rotarod (PubMed:15504325, PubMed:19052207). Compared to wild-type littermates, cultured hippocampus neurons from mutant mice display an increased number of excitatory synapses (PubMed:22325200). Effects on neurite outgrowth are controversial and may depend on the mouse strain, cell type, and the experimental conditions (PubMed:15504325, PubMed:15647357, PubMed:18411262, PubMed:19367338). Cultured neurons display impaired axon growth cone collapse in response to myelin, MAG and RTN4 (PubMed:15504325). Mutant cerebellar and dorsal root ganglion neurons show no decrease of the inhibition of neurite outgrowth by myelin or RTN4 (PubMed:15647357). Mutant cerebellar neurons display decreased inhibition of neurite outgrowth mediated by MAG and by cross-linking ganglioside GT1b (in vitro) (PubMed:18411262). Likewise, mutant sensory neurons show no decrease of the inhibition of neurite outgrowth by MAG (PubMed:19367338). Mutant mice have improved functional recovery and increased regeneration of rubrospinal and raphespinal fibers after spinal cord transection. Still, there is no regeneration of corticospinal fibers (PubMed:15504325, PubMed:15647357). Mice lacking both Rtn4r and Rtn4rl2 display no visible phenotype (PubMed:19367338). Sensory neurons from mice lacking both Rtn4r and Rtn4rl2 show moderately decreased inhibition of neurite outgrowth by MAG (PubMed:19367338). Mice with a triple gene disruption that lack Rtn4r, Rtn4rl1 and Rtn4rl2 have no visible phenotype, are healthy and viable (PubMed:22406547). Mice with a triple gene disruption that lack Rtn4r, Rtn4rl1 and Rtn4rl2 have normal brain size and grossly normal brain anatomy, but display disruption of medial brain structures, including an absence of the fasciola cinereum, corpus callosum agenesis and formation of bilateral Probst bundles indicative of the failure of callosally projecting neurons to extend across the midline (PubMed:27339102). Mice with a triple gene disruption of Rtn4r, Rtn4rl1 and Rtn4rl2 display impaired ability to stay on a rotarod and increased spontaneous locomotion (PubMed:27339102). These mice display an increased number of excitatory synapses in the apical dendritic regions of hippocampus neurons, an increase in the complexity of dendrite structure and increased total dendrite length (PubMed:22325200). One month after birth, mice with a triple gene disruption that lack Rtn4r, Rtn4rl1 and Rtn4rl2 show a significant reduction in the survival of motoneurons (PubMed:26335717). Compared to wild-type or single mutants, cerebellar granule cells from mice lacking Rtn4r, Rtn4rl1 and Rtn4rl2 show decreased myelin-mediated inhibition of neurite outgrowth, an inhibition that is strongly decreased on myelin deficient in Mag, Rtn4 and Omg (PubMed:22406547). Mice lacking both Rtn4r and Rtn4rl1 show increased axon regeneration after injury; the same effect is observed when Rtn4r, Rtn4rl1 and Rtn4rl2 are disrupted (PubMed:22406547). Combined disruption of Rtn4r, Rtn4rl1 and Ptprs further increases axon regeneration after injury (PubMed:22406547). Single gene disruption of Rtn4r, Rtn4rl1 and Rtn4rl2 and combined disruption of Rtn4r and Rtn4rl2 have no effect on axon regeneration (PubMed:22406547)
Cells lacking this gene do not sporulate; instead of aerial hyphae of unicellular spores, long slightly coiled unseptated stalks form
RNAi-mediated knockdown results in abherrent inx-3-positive gap junction formation along the adjoining membranes of EA and EP endodermal precursor cells at the 16-24 cell stage of embryogenesis, and in adult pharyngeal muscles (PubMed:33238150). The inx-3-positive gap junctions are increased in number, are randomly positioned at irregular intervals on either the EA and EP cells and, although they are along the membrane, they are not on the membrane (PubMed:33238150). Furthermore, F-actin does not accumulate at the gap junction formation plaque in between the EA and EP adjoining membrane, but randomly forms patches along the membrane (PubMed:33238150). RNAi-mediated knockdown does not affect the expression of inx-3 (PubMed:33238150). RNAi-mediated knockdown impairs gap junction function in pharyngeal muscles which disrupts the synchronized muscle contraction between the pharyngeal metacorpus and terminal bulbs and thereby decreases the pharyngeal pumping rate (PubMed:33238150). RNAi-mediated knockdown in the nerve ring results in uncoordinated movements (also known as an unc phenotype), decreased locomotion and defective unc-9-positive gap junction formation and morphology (PubMed:33238150)
Leads to hypersensitivity to cell-wall-degrading enzymes (PubMed:18393612). Reduces significantly numbers of conidia and develops appressoria in a slightly retarded manner (PubMed:18393612). Impairs the ability of appressoria to penetrate into plant tissues, thereby abolishing pathogenicity (PubMed:18393612)
Cannot grow under anaerobic growth conditions
No visible phenotype (PubMed:27524487). Plants lacking ENODL11, ENODL12, ENODL13, ENODL14 and ENODL15 have a reduced seed set due to aborted ovules as a result of pollen tubes failling to rupture and release their sperm cell cargo (PubMed:27524487)
Results in greatly reduced pathogenicity and loss of trichothecene toxin accumulation in infected wheat plants. Exhibits normal vegetative growth but shows defects in asexual and sexual spore development
Tiller-spreading phenotype due to defective shoot and tiller gravitropism. Extremely larger leaf angle at reproductive stage. Altered endogenous auxin distribution in shoots
Results in poor growth under low iron conditions and loss of siderophore production (PubMed:18404210, PubMed:21341981). Leads also to a significant growth defect in human and murine macrophages and attenuation in the mouse model of infection (PubMed:18404210, PubMed:21341981)
Loss of streptomycin resistance
Attempts to disrupt Rv1248c in M.tuberculosis H37Rv and Erdman strains by homologous recombination were unsuccessful, raising the possibility that Rv1248c may be essential (PubMed:20416504). However, deletion mutants were readily obtained in a strain derived from H37Rv in PubMed:19936047. The mutant strain grows as well as wild-type in medium containing both carbohydrates (dextrose and glycerol) and fatty acids, under a CO(2) enriched atmosphere, but shows a marked growth defect when grown in medium containing carbohydrates as the sole carbon source in the presence of CO(2). Simultaneous disruption of korAB and kgd results in strict dependence upon the glyoxylate shunt for growth. Growth of the kgd mutant strain on fatty acids as the sole carbon source is similar to that of the wild type strain regardless of the presence of CO(2). But cells lacking both korAB and kgd is significantly more retarded for growth on fatty acids than is either korAB or kgd deleted mutant alone
Worms show impenetrant phenotypes, including developmental arrest, morphological defects of the vulva and tail and reduced fecundity. Worms also display supernumerary seam cell divisions, defective alae formation, and the accumulation of the SCF(lin-23) target, the glutamate receptor glr-1. Increased levels of the neddylated isoforms of Cul-2 and cul-4
No clumped-chloroplasts phenotype (PubMed:22025705). 31% reduction in root hair growth (PubMed:28096376). Phox1 and phox4 double mutants show no clumped-chloroplasts phenotype, but a 46% reduction in root hair growth (PubMed:22025705, PubMed:28096376). Phox1, phox3 and phox4 triple mutants and phox1, phox2, phox3 and phox4 quadruple mutants show a 70% reduction in root hair growth (PubMed:28096376)
Reduced incorporation of 1-[14C]-propionate. Defective in adenosylcobalamin synthesis. incorporation into macromolecules
Reduced uptake of amino acids Glu, Asp, Ala, Leu, Ile and Val by bacteroids that lack this gene and the genes aapJ and braC from the two ABC uptake systems of branched-chain amino acids. Pea plants inoculated with the triple mutant bacteroids are defective in symbiosis; the plants are yellow, have increased numbers of small pale pink root nodules, dry weights similar to uninoculated control plants and 30% acetylene reduction compared to plants inoculated with wild-type bacteroids
Mice are viable up to 1 year despite detection of auto-immune disease in these animals. They exhibit glomerulonephritis, splenomegaly and lymphadenopathy associated with B-cell expansion and defective B-cell tolerance to self-antigen
Deletion mutant cannot methylate arsenic and becomes more sensitive to As(III)
Induction of genes regulated by PhoP, not suppressed by a dsbA deletion or 50 uM CuSO(4)
Reduced levels of arabinogalactan proteins. Root hair defects. Reduced seed sets. Reduced seed coat mucilage. Increased sensitivity to salt stress. Premature senescence
Leads to complete loss of monodictyphenone, agnestins and all related compounds
RNAi-mediated knockdown on a daf-2 mutant background shortens lifespan substantially, by up to 45%, but does not alter lifespan on a daf-16 mutant or wild-type background (PubMed:23911329). Knockdown activates vitellogenesis on either lin-29, rict-1 or sgk-1 mutant backgrounds, but not on daf-2 mutants (PubMed:27401555). Reduced expression of metal transporter smf-3 on an nhr-14 mutant background (PubMed:27401555). Enhanced sensitivity to P.aeruginosa infection on an nhr-14 mutant background (PubMed:31532389)
Mice die at a mid- or late-gestational period. Show embryonic lethality due to impaired differentiation of arterial endothelium and defects of vascular morphogenesis (PubMed:22783020). Conditional knockout in endothelial cells show similar vascular defects to those observed in global null mice (PubMed:20848592, PubMed:22783020). Conditional knockout mice lacking Tmem100 in dorsal root ganglia (DRG) primary sensory neurons, exhibit normal mechanical sensitivity but reduced acute nocifensive behaviors induced by mustard oil, consistent with a reduction in inflammatory mechanical hyperalgesia and TRPA1- but not TRPV1-mediated pain (PubMed:25640077)
Abolishes the production of leucinostatins A and B
Homozygous knockout mice die within one day after birth (PubMed:23689133). Death is caused by a skin barrier deficiency and excessive water loss that are associated with impaired formation of lipid lamellae in the stratum corneum (PubMed:23689133). In the epidermis, the levels of ceramides with fatty acid chains containing more than 26 carbons are decreased, while the levels of ceramides with less than 24 carbons are increased (PubMed:23689133)
Results in near absence of conidia production (PubMed:24161731)
Accumulation of fluorescent chlorophyll catabolites (FCC) during senescence (PubMed:24302623). No effect on root length when grown in presence of exogenous MeIAA
No visible phenotype under normal growth conditions. Apk1 and apk2 double mutant exhibits a semi-dwarf phenotype
Slight reduction of fresh weight in mature plants. Leaves with high levels of gamma-tocopherol and absence of alpha-tocopherol
Decreased virulence in vitro, able to escape the vacuole, required at an early post-invasion stage (PubMed:12753186). Bacteria no longer escape autophagy (PubMed:15576571)
No visible phenotype on cell wall acetylation in single mutant (PubMed:21212300). Severe growth phenotypes (e.g. dwarf and abnormal flower organs) associated with reduction in the secondary wall thickening and the stem mechanical strength in the quadruple mutant rwa1 rwa2 rwa3 rwa4 and characterized by reduced xylan acetylation and altered ratio of non-methylated to methylated glucuronic acid side chains. Absence of interfascicular fibers and xylem cells differentiation (PubMed:21673009, PubMed:24019426). The double mutant rwa2 rwa4 and triple mutants rwa2 rwa3 rwa4, rwa1 rwa3 rwa4 and rwa1 rwa2 rwa4 are also dwarfs with abnormal morphology. Altered O-acetylated xyloglucans (XyG) oligosaccharides (XyGOs) composition (PubMed:24019426)
Slightly slower growth rate. Impaired splicing of mitochondrial group-II introns-containing NAD4 transcript and altered carbon metabolism. Altered fundamental metabolic pathways including amino acid metabolism, triacylglycerol degradation and polysaccharide synthesis (cellulose and starch) during the early stage of plant growth. Reduced sensitivity to 2,6-dichlorobenzonitrile (DCB) and isoxaben treatments, cellulose biosynthesis inhibitors. Increased sensitivity to sugar concentration of the medium (PubMed:16621844). Retarded growth and developmental phenotypes (e.g. reduced germination efficiency, altered primary root elongation and impaired vegetative growth and fertility) and modified respiration activities. Altered stress responses characterized by high levels accumulation of reactive oxygen species (ROS) and darker and reddish leaves. Abnormal mitochondrial morphology (PubMed:22429648)
Disruption of the gene causes loss of glucose transport activity (PubMed:8830708). Inactivation results in elevated ingestion and reduced cytotoxicity of eukaryotic cells during P.aeruginosa infection (PubMed:22262100)
Strongly reduced benzoic acid (BA) levels and lower benzenoid formation
Bilateral morpholino knockdown of the protein in the embryo causes gross body edema that is typical of a renal excretory defect
Mutant mice are viable and fertile and display no obvious morphological abnormalities in the brain or spinal cord
Mutants are unable to grow on either methanol or ethylamine in the presence of glycolate. Glyoxylate restores growth, but only on C2 compounds
Results in an earlier growth arrest and onset of cell lethality
Deletion abolishes any K(+) uptake activity via TkrH and TkrI
A single gene deletion has about 60% decreased biofilm formation, 75% decreased adherence to human lung pneumocytes. Has higher pneumolysin (ply) i.e. hemolytic activity in the cytoplasm but less in the cell wall. Decreased levels of a number of cell wall and secreted proteins (PubMed:28456649). Deletion of 15 genes (from psrP, SP_1772 to SP_1756, includes the accessory Sec export proteins SecA2 and SecY2) and infection of female BALB/cJ mice, shows the psrP-secY2A2 region is required for lung infection and for infection to progress to blood. Mice infected intraperitoneally showed wild-type infection. Decreased adherence to lung but not pharynx or brain cells. The psrP-secY2A2 region deletion has no effect on bacterial growth rate, capsule levels, autolysis, or transformation (PubMed:18507531). In vitro significantly decreased biofilm formation is seen; the large deletion mutant (SP_1772 to SP_1756) is no more affected than the single psrP deletion (PubMed:20714350)
Results in an increase in triglyceride (TG) synthesis with a concomitant decrease in phospholipid (PL) synthesis and exhibits an altered plasma membrane lipid composition (PubMed:10747858). Shows defects in cell wall assembly and stability and abnormal cell wall morphology (PubMed:17042752). Deficient in GPI anchor remodeling, mutant cells only contain the primary, unremodeled phosphatidylinositol (PI) and are unable to attach remodeled PI or ceramides to the anchor (PubMed:16597698). Defective in sterol lipid distribution (PubMed:18786505)
Defects in DRC4 give the pf2 phenotype characterized by disruption of the assembly of several other N-DRC subunits and an altered waveform that results in slow swimming cells
Leads to decreased production of bikaverin (PubMed:19400779)
40% reduction in hepatic GPX1 activity
Alters growth in axenic culture and impairs conidia production and perithecia formation (PubMed:25727237). Abolishes the pathogenicity on oilseed rape leaves and results in a drastic decrease in expression of at least the three effector genes AvrLm1, AvrLm6 and AvrLm4-7, during infection (PubMed:25727237)
Conditional knockout mice lacking Daam1 in myocardial cells show cardiomyopathy. Conditional knockout mice lacking Daam1 and Daam2 in myocardial cells show stronger cardiomyopathy
No visible phenotype (PubMed:19473324). Increased salt sensitivity with reduced production of reactive oxygen species (ROS) (PubMed:21677096)
Knockout males are sterile despite normal mating behavior with ejaculation and vaginal plug formation (PubMed:33871360, PubMed:35393517). DCST1 and DCST2 double knockout males, but not females, are completely infertile. Mutants have no disturbances in sperm migration into the oviduct, acrosome reaction and zona penetration. Mutant spermatozoa are capable of binding to the plasma membranes of oocytes but fail to proceed to membrane fusion with oocytes (PubMed:33871360, PubMed:35393517)
No visible phenotype under normal growth conditions, but mutant seedlings are hypersensitive to freezing
Embryos fail to form the ventral furrow at gastrulation and lack mesoderm and all internal organs
Deletion mutant shows a severely reduced secretion of VgrG1a, VgrG1c as well as Hcp1
Mice appear normal at birth, but within 1-8 weeks after birth they develop a complex syndrome of cachexia, arthritis, autoimmunity, myeloid hyperplasia and general inflammation (PubMed:8630730). Show precocious skeletal muscle satellite cell activation and increased satellite cell fusion into myofibers (PubMed:25815583). Show higher levels of tumor necrosis factor (TNF)-alpha mRNA and protein in macrophages and an excess of circulating TNF-alpha (PubMed:8630730, PubMed:9703499, PubMed:16508014). Show higher levels of granulocyte-macrophage colony-stimulating factor (GM-CSF) expression in macrophages and an excess of GM-CSF secretion upon lipopolysaccharide (LPS) stimulation (PubMed:10706852). Show higher levels of serine/threonine-protein kinase PLK3 expression in macrophages (PubMed:19188452). Show higher levels of interleukin IL2 expression in splenocytes and T lymphocytes and an excess of IL2 secretion upon T cell activation (PubMed:15634918). Show an increase in the stability of numerous mRNAs, such as TNF-alpha, GM-CSF, IL2 and PLK3 mRNAs (PubMed:9703499, PubMed:10706852, PubMed:15634918, PubMed:17030620, PubMed:19188452). Show an absence of ARE-containing transcript deadenylation (PubMed:10330172). Mice with a double knockout of ZFP36 and MAPKAPK2 show increased amounts of TNF in macrophages almost comparable to single ZFP36 knockout (PubMed:16508014)
Leads to total loss of monodictyphenone and agnestin biosynthesis and accumulates emodin but only traces of chrysophanol
Mutation abolishes chemotaxis toward xanthine, guanine and adenine
Reduced lignin content, late heading time, semi-dwarf and flexible culm
No visible phenotype when deleted singly or as the relBE3 operon
Mice develop symptoms of the autoimmune disease systemic lupus erythematosus, characterized by high titers of anti-nuclear autoantibodies (ANA) directed against nucleosomes and double-stranded DNA, the deposition of immune complexes in glomeruli and full-blown glomerulonephritis (PubMed:27293190). Mice lacking both Dnase1 and Dnase1l3 show vascular occlusions following bacterial infection: defects are caused by the formation of intravascular neutrophil extracellular traps (NETs) clots that obstruct blood vessels and cause organ damage (PubMed:29191910)
No visible phenotype in absence of infection; mice are healthy and display normal lymphoid and myeloid cellular composition in the thymus and spleen (PubMed:15692051). Mice are however susceptible to bacterial infection due to the inability to detect bacterial muramyl dipeptide and trigger an innate immune response (PubMed:15692051). Deletion mice have an altered composition of the gut microbiota with a net increase in the abundance of bacteroidetes and firmicutes phyla in the feces and terminal ileum compared to wild-type mice due to the fact that they are unable to kill bacteria effectively (PubMed:19805227, PubMed:21421666). Mice show inflammation of the small intestine, due to an imbalance of the equilibrium between intestinal microbiota and host immune responses (PubMed:25088769). Dysbiosis caused by the absence of Nod2 predisposes mice to transmissible colitis and colorectal cancer (PubMed:23281400). Mice show increased bacterial adherence to the intestinal mucosa and bacterial infiltration in metabolic tissues, such as hepatic and adipose tissue, exacerbating inflammation and insulin resistance (PubMed:25666722). Mice show a reduced number of intestinal intraepithelial lymphocytes impairing the epithelium integrity and leading to altered immune response to the resident microbiota (PubMed:24062413). Conditional deletion in GABAergic neurons leads to metabolic alterations, characterized by a delay in achieving satiety and delayed temperature drops in response to fasting (PubMed:35420957). Mice lacking Nod1 and Nod2 are protected from high-fat diet-induced inflammation, lipid accumulation, and peripheral insulin intolerance (PubMed:21715553)
Required to make gas vesicles in E.coli in the absence of GVP 1
Worms are viable and healthy, but have slightly reduced locomotion rates, and defects in the inhibition of pharyngeal pumping and egg laying in the absence of food
Deletion of the gene abolishes intra- and extracellular monapterin production
Early embryonic lethality. Heterozygous mice show no overt phenotype
Partial conversion of flowers into shoots and a disruption of sepal and petal development
Impairs nuclear mRNA export, slows cell growth, increases cellular InsP3 170-fold and decreases InsP6 100-fold
No visible phenotype (PubMed:12296824). Double knockout with oma-1 results in sterility due to an oocyte maturation defect (PubMed:11702779). The oocyte maturation defect is due to a meiotic defect in oocytes in which the maturation process is initiated, but there is no progression beyond the prophase stage of meiosis and therefore the cell division process is not completed (PubMed:11702779). Animals also have a larger number of oocytes which are larger in size, but the oocytes cannot be fertilized and accumulate within the gonad (PubMed:11702779). Double RNAi-mediated knockdown with oma-1 in embryos results in more widely distributed P-granules compared to wild-type embryos, and an irregular distribution of germline proteins including pgl-1, mex-1 and pie-1 (PubMed:16611242). Double RNAi-mediated knockdown with oma-1 in larva at the L4 stage of development results in 93% embryonic lethality following the first mitotic cleavage in offspring (PubMed:16611242). Double RNAi-mediated knockdown with oma-1 in adults results in a 60% reduction in number of eggs laid (PubMed:12296824). These animals also have an expanded proximal gonad arm which contains larger number of proximal oocytes which in turn contain a larger number of germinal vesicles and higher expression of maternal mRNAs including nos-2 (PubMed:12296824, PubMed:18417623). Furthermore, after the diakinesis stage following meiosis I, the germinal vesicles have dispersed chromosomes and an abnormal distribution of P-granules (PubMed:12296824). Embryos also display cell division (PubMed:19786575, PubMed:20826530). In addition, there is increased expression of target transcripts such as taf-4 and mei-1 which also exhibit an altered localization in oocytes and embryos (PubMed:18854162, PubMed:19786575, PubMed:25261697). Reduced expression of the maternal transcriptional repressor protein pie-1 (PubMed:20826530). Triple RNAi-mediated knockdown with oma-1 and moe-3 results in a 85% reduction in number of eggs laid (PubMed:12296824)
Decrease in nitrate reductase activity in deletion mutants and failure to grow in dark under anaerobic conditions
Cells exhibit a striking defect in the formation of dorsal, cup-like, macropinocytic structures, a concomitant reduction in the rate of fluid phase pinocytosis, a significant decrease in the efficiency of chemotactic aggregation, and a decrease in cellular F-actin content
Spontaneous onset of obesity in 16-week old mice with higher levels of white and brown fat and a slightly heavier liver. Enhanced susceptibility to high fat diet-induced obesity characterized by a weight increase and higher levels of white and brown fat
No visible phenotype under normal growth conditions, but mutant plants are insensitive to seedling growth inhibition in response to the pathogen-associated molecular pattern (PAMP) elf18. The double mutant erdj3b and p58ipk is male gametophytic lethal
Cells lacking this gene have an increased sigma-B activity in response to salt and ethanol stress and also increased sigma-B activity in response to the energy stress associated with entry into stationary phase. These results indicate that this protein is a negative regulator of sigma-B activity
Mice develop normally and are born at the expected Mendelian ration (PubMed:33795848). Cells display accumulation of lipidated forms of ATG8 family proteins, affecting autophagosome number and size without significantly altering autophagic flux (PubMed:33795848). Mice show cerebellar neurodegeneration and impaired motor coordination, whose severity increases with age (PubMed:33795848)
No visible phenotype and no change in the levels of 13-OH GAs; due to the redundancy with CYP714B2. Cyp714b1 and cyp714b2 double mutants have decreased levels of 13-OH GAs, increased levels of 13-H GAs, including GA4, and longer uppermost internode
Basket cells with reduced branches and short processes in the somatosensory cortex of adult knockout (KO) mice. Reduced expression of the gamma-aminobutyric acid-synthesizing enzymes Gad1 in the somatosensory cortex of KO mice (PubMed:23912123). Delayed myelination in the corpus callosum of KO mice during the postnatal period, but recovery by adulthood (PubMed:24481677). Decreased dendritic arborization and increased spine density dendrites in cortical pyramidal neurons of adult KO mice (PubMed:25983680)
Increased susceptibility to fungal infection and failure to induce the expression of antifungal peptide Drs in response to fungal infection but not in response to E.coli or M.luteus bacterial infection
Females die at birth and display severe craniofacial and limb abnormalities associated with disorganization of the brain, reduction of the lungs, defects in the great vessels and cystic kidney. Primary cilia are absent on the luminal surface of glomerular and tubular cells of kidneys. Males die earlier during development of the embryo, display failure of left right axis specification associated with a lack of cilia in the embryonic node
Mice die perinatally and display craniorachischisis, a severe form of neural tube defect in which the neural tube fails to close from the midbrain hindbrain boundary to the base of the spine. Chuzhoi mutants also display disruption of planar cell polarity in the inner ear, and defective heart and lung development
Animals are viable, fertile, egg-laying proficient and coordinated. Abnormal synaptic vesicle clustering in the HSNL motor neuron from larval stage L3 through to adulthood. Reduced accumulation of synaptic vesicle proteins snb-1 and cat-1 in HSNL motor neuron. Defective synapse specificity due to altered distribution of synapses. syg-1 is mis-localized and diffusely distributed on the axon of the HSNL neuron
Disruption of the gene in two clinical isolates, SA564 and UAMS-1, results in the overexpression of several virulence genes (PubMed:18156263). The mutant strains have higher levels of hemolytic activity toward rabbit erythrocytes in their culture fluid, show derepressed transcription of the accessory gene regulator (agr) locus, and derepressed PIA-dependent biofilm formation (PubMed:18156263). Disruption results in a robust structured biofilm tethered together with eDNA and PIA (PubMed:35735992). Mutants from unrelated strains Newman, UAMS-1 and RN1HG grow more slowly than their parent strains in a chemically defined medium, but only codY mutants are able to grow in medium lacking threonine (PubMed:19251851)
No visible phenotype in most cases (PubMed:24347169, PubMed:27815839). Some mice have dome-shaped heads and die within 2 months after birth (PubMed:27815839). Mice show abnormal behavior, reminiscent of obsessive-compulsive disorder: mice exhibit compulsive grooming-induced hair loss and self-made lesions as well as increased anxiety-like behaviors (PubMed:27815839). Mice are prone to systemic chronic inflammation in the skin, liver, kidney and pancreas (PubMed:29073078). During inflammation, reduced motility of bone marrow-derived macrophages and protrusive membrane dynamics are observed (PubMed:24917672). Mice also display attenuated susceptibility to experimental autoimmune encephalomyelitis, an animal model of multiple sclerosis: attenuated susceptibility is caused by reduced leukocyte infiltration and decreased adherence of leukocytes on retinal vessels (PubMed:27815839). Abolished ability to mediate plasma membrane rupture downstream cell death, without affecting GSDMD pore formation (PubMed:33472215). Conditional deletion in pericytes impairs vessel maturation and blood flow recovery in hind limb ischemia (PubMed:30354207)
No visible phenotype; probably due to redundancy with RFLN. RFLNA and RFLNB double mutant mice exhibit severe skeletal malformations, as characterized by scoliosis, kyphosis, intervertebral disks defects, vertebral fusion in the spine and longitudinal bone growth retardation. Chondrocyte maturation is accelerated in double mutant mice
Cells lacking this gene show a purine auxotrophic phenotype and an accumulation of FGAR due to defective FGAM synthetase activity
Decreased homologous recombination frequency, but unchanged sensitivity to genotoxic agents and efficiency of T-DNA integration (PubMed:15525519). Differential expression of several genes (PubMed:31418686). Compromised ethylene-induced H2A.Z eviction dynamics (PubMed:31418686). The double mutant ref6-1 ino80-1 is insensitive to ethylene (ET) and exhibits reduced levels of EIN2 associated with a shift of the chromatin landscape to a repressive state at its locus (e.g. H3K27me3 and H2A.Z) (PubMed:31418686)
Cells lacking this gene accumulate 9,17-dioxo-1,2,3,4,10,19-hexanorandrostan-5-oic acid (HIP) when incubated with 1,4-androstadiene-3,17-dione (ADD)
Plants show a viviparous phenotype
Deletion of the gene results in increased resistance to antibiotics and detergents
Attenuated Mi-1-mediated resistance against potato aphid (e.g. M.euphorbiae) and root-knot nematode (e.g. M.javanica)
RNAi-mediated knockdown shows aberrant neuromuscular junctions in the larval muscle, and abnormal wings together with locomotive defects in the adult
Male gametophyte-defective. Disrupted pollen germination and embryo development. Hypersensitivity to exogenous sucrose
T-cells display impaired migration patterns and are less efficient in scanning and evaluating antigen-presenting cells. T-cells show global reduction in membrane tension, while their homeostatic tissue distribution and responsiveness to T-cell receptor (TCR) engagement are unaffected. However, T-cells move faster and straighter, leading to defects in detection of antigen-presenting cells, specifically for detection of rare antigens
Homozygous knockout mice exhibit growth retardation and dwarfism, visible even in neonates (PubMed:21445361). They exhibit moderate osteoporotic phenotypes associated with decreased bone volume and trabecular number, and increased trabecular separation (PubMed:21445361). The length of the long bones is also significantly reduced (PubMed:21445361). The decrease in bone mass is associated with increased bone resorption (PubMed:29632817). The metabolism of these mice is also affected and they constitute a model of metabolic endotoxemia with high body fat, hypoglycemia and hyperinsulinemia (PubMed:23110240, PubMed:27703010). The knockout of the gene also results in less effective blood manganese elimination and accumulation in the brain where it alters motor functions (PubMed:28536273). Knockout mice also display increased iron absorption and decreased lipopolysaccharide/LPS-induced IL-6 production (PubMed:23110240, PubMed:26028554). The permeability of the intestinal barrier is also compromised (PubMed:25428902). Conditional intestinal-specific knockout of the gene results in increased manganese levels in brain and liver while the liver-specific knockout reduces manganese levels only in liver (PubMed:31028174)
EspD deficiency results in decreased cellular levels of EspA and EspC, but does not affect their transcription
Embryonic lethality (PubMed:29273634). Embryos show apoptosis at the morula stage, blocking the transition from morula to blastocysts during embryonic development (PubMed:29273634)
EsxJI deletion mutant shows extremely slow growth in broth cultures
Deletion mutant cells show Tse6-dependent intoxication with a dramatic increase in division time
According to one study, knockout mice are not viable and heterozygous knockout mice display impaired phagocytosis of apoptotic cells (PubMed:16908670). However, another study shows that knockout mice are viable and females have less visceral fat and lower total serum and high density lipoprotein cholesterol level (PubMed:15550377). Knockout mice exhibit altered lipid profile in mouse brains, compromised spatial memory and increased BACE1 activity (PubMed:27030769). Display an increase in amyloid-beta protein 42 (Abeta42) from 4 to 24 weeks of age, whereas amyloid-beta protein 40 (Abeta40) is increased at 4 weeks and decreased at 24 weeks of age (PubMed:26260791). Increased endocytotic uptake of APP into endosomes in primary microglia cells (PubMed:26260791). Reduced phagocytic uptake of Abeta42 and Abeta40 by microglia cells and phagocytes (PubMed:27472885). Decreased macrophage phagocytosis in the peritoneal cavity (PubMed:20495215). Decreased surface CD1D expression on double positive thymocytes, on antigen-presenting thymocytes, on peripheral antigen-presenting cells in the spleen and on peritoneal macrophages (PubMed:28091533). Increased accumulation of CD1D to late endosomes (PubMed:28091533). Impaired natural killer T (NKT) cell development with a 2-fold decrease in frequencies and total numbers of NKT cells in the thymus and a reduction of peripheral NKT cells in spleen and liver (PubMed:28091533). Reduced proliferation during early stages of NKT development and reduced expression of Egr2 in NKT cells (PubMed:28091533). Decreased number of plasma membrane lipid rafts on thymocytes and a reduction of CAV1 and CD1D clusters in macrophages (PubMed:28091533). RNAi-mediated knockdown reduces phagocytosis of apoptotic cells by macrophages (PubMed:16908670)
Temperature sensitive with 35% embryonic lethality at 20 degrees Celsius and 80% at 25 degrees Celsius (PubMed:31584932). Of the surviving offspring, 30% are sterile at 20 degrees Celsius and 76% are sterile at 25 degrees Celsius (PubMed:31584932). The majority of non-sterile animals have a reduced brood size (PubMed:31584932). In addition, animals have gonadal formation defects and display a bursting vulva phenotype (PubMed:31584932). Reduced number of miRNAs including miR-58 in embryos and L4 larvae (PubMed:31584932). Defective neuronal cell fate switching, whereby fewer ASEL neurons adopt an ASER cell fate in an lsy-6 mutant background (PubMed:31584932). In young adults, increased number of seam cells and enhanced hypodermal development defects in the double miR-48 and miR-241 mutant (PubMed:31584932). The majority of mutants are embryonic lethal in a miR-35-42 mutant background (PubMed:31584932). Enhanced defects in hypodermal development and alae formation in a let-7 mutant background (PubMed:31584932). RNAi-mediated knockdown relieves the lys-6-mediated repression of cog-1 in uterine cells (PubMed:31584932). RNAi-mediated knockdown results in increased sensitivity to the DNA-damage agent methyl methanesulfonate in embryos, but does not disrupt the morphology of the nucleus (PubMed:15654100). RNAi-mediated knockdown enhances the bursting vulva phenotype in a let-7 mutant background (PubMed:31584932)
Dwarf, narrow leaf, low tillering and sterility phenotypes
Affected cell division in meristems but normal final cell sizes. Earlier flowering and smaller plant size. Enhanced sensitivity to methyl methanesulfonate (MMS), a genotoxic agent that damages DNA bases. Enhanced expression of some transposons. When associated with ROS1 disruption, restored silencing of some genes associated with increased histone H3 acetylation and histone H3 'Lys-4' methylation (H3K4me2), but decreased histone H3 'Lys-9' methylation (H3K9me2) in their promoter
Increased susceptibility to fungal pathogens
Animals show altered sleep and behavioral activity whitout changes in total activity or vigilance states. They have increased wheel-running activity and reduced REM (rapid eye movement) sleep and NREM (non-REM) sleep in the middle of the dark phase. At the beginning of the baseline light period, they have less wakefulness and more REM and NREM sleep. Mice spend less time in wakefulness and more time in NREM sleep on the light period immediately after sleep deprivation and REM sleep accumulates more slowly during the recovery dark phase. They also display a depression-like phenotype. Double knocknouts for PER2 and PER3 show the same phenotype as PER2 knockouts with severely disrupted circadian behavior
Deletion leads to overproduction and excretion of inositol into the growth medium
Altered photosystem II (PSII) function under high-irradiance light (PubMed:25846821). Elevated photodamage to PSII reaction center proteins after high-light treatment (PubMed:26337456)
Mutant mice exhibit slightly thinner retina, including outer retinal layer, and abnormal electroretinography at 2 and 6 months of age compared to wild-type animals. They are viable and fertile. They do not show any noticeable physical abnormalities
Variegated leaf phenotype (Ref.8). Slow-growth phenotype, with chlorotic leaves during early development (PubMed:17009084, PubMed:18754756)
Blocks autophagy (PubMed:27197558). Leads to reduced conidial germination under starvation (PubMed:27197558). Especially, leads to reduced CP15 levels in conidia (PubMed:27197558). Impairs growth of the mycelia on host cadavers and considerably weakens virulence (PubMed:27197558)
Transient delay during the first day of seed germination and increased length of the primary root
Reduced plant height and biomass. Reduced fertility. Increased levels of copper in grain, leaf sheath and internodes
Early and highly significant depletion of primordial follicles
Worms exhibit incomplete ecdysis; at each molt the cuticle fails to open sufficiently at the anterior end and the partially shed cuticle is dragged behind the animal
Female infertility due to oocyte meiotic arrest at the germinal vesicle stage: ovaries look normal, but oocytes do not resume meiosis even after a superovulatory regimen of gonadotropins and are ovulated at the immature germinal vesicle stage. Oocytes display strong up-regulation of a transcripts, increased retrotransposon expression, defective cytoplasmic maturation, and meiotic arrest. Mutant males are fertile
Worms exhibit diverse nervous system defects including defects in feeding behavior and chemosensation. Phenotypes are due to defects in protein trafficking, such as mislocalization of odr-3 and gpa-13 proteins in olfactory neurons
The null mutant fails to remodel the LCV with endoplasmic reticulum (ER)-derived vesicles and is trafficked to the lysosomes where it is degraded (PubMed:33563829). Mutant is defective for intracellular growth in hMDMs, amoeba and for intrapulmonary proliferation in mice (PubMed:33563829)
Knockout mice maintain a normal body weight and developmental phenotype (PubMed:32758484). Tongue histological abnormalities are evident at P20 including the loss of two lingual vessel branches at the ventral side of the tongue which appears white and wrinkled, especially on the ventral surface at three weeks of age (PubMed:32758484). Loss of column-like basal cell organization and increase in nuclear atypia and vacuolization in both the basal and suprabasal layers of the tongue (PubMed:32758484). Loss of keratohyalin granules, abnormal presence of cuboidal cells in the suprabasal layers and loss of organization of the outermost keratin layer leading to a foamy appearance (PubMed:32758484). Increase in intracellular gaps, however desmosomes still formed but were found broken and intermediate filaments running from the desmosomes to the cytoplasm were missing or reduced (PubMed:32758484). Cytoplasmic vacuolization is evident in all cell layers and large lipid droplets are found in granular cells in the tongue epithelia (PubMed:32758484). Severe abnormalities in buccal mucosa and esophagus including thickened epithelium, immature suprabasal cells, loss of keratohyalin granules and a disorganized keratin layer at P20 (PubMed:32758484). Disrupted proliferation and differentiation in tongue epithelial cells at P20, as indicated by disordered expression of the transcription factor Tp63/P63, the basal progenitor cell marker Krt5, and the differentiated epithelial cell marker Loricrin (PubMed:32758484). Increase in proliferating cells in the upper layers of the tongue epithelium at P20 (PubMed:32758484). Normal tongue morphology, structural architecture and epithelial cell proliferation at birth (PubMed:32758484). Differential expression of 125 genes in the tongue at P0, enriched in keratinization, proinflammatory responses, stress-activated protein kinase signaling and threonine/lipid metabolic processes (PubMed:32758484). Differential expression of 2907 genes in the ventral tongue at P20 involved in a range of processes, however primarily in cell cycle regulatory pathways (PubMed:32758484). Increase in the expression of CCNE1 and CCNE2 in response to in vitro mechanical stress of the tongue (PubMed:32758484)
Auxotrophic for leucine
Impairs the production of echinocandin B and the ability to inhibit the growth of C.albicans under screening conditions (PubMed:22998630)
Does not grow on ethanolamine and tetrathionate under anoxic conditions; complemented by acetate kinases EutQ
No visible phenotype when heterozygous, but completely female sterile when homozygous
Mice display a marked increase in cardiac hypertrophy
Perinatal lethality, due to severe hemorrhages shortly before birth. Kidney glomerular tufts do not form, apparently because of absence of mesangial cells. The heart and some large arteries are dilated in late-stage embryos. Mice lack microvascular pericytes, which normally form part of the capillary wall, and develop numerous capillary microaneurysms, leading to hemorrhages. Mice display erythroblastosis, macrocytic anemia, and thrombocytopenia
No visible phenotype. Mice have abnormally elongated mitochondria, but mitochondrial function appears to be normal
Embryonic lethality: embryos develop until blastocyst stage but development is stopped around the time of implantation (PubMed:30197299). Defects are caused by dysregulation of MAT2A mRNAs (PubMed:30197299)
Touch insensitive phenotype, which may be due to defective touch receptor neuron synaptic transmission
Cells lacking this gene have no visible phenotype in response to salt, ethanol or energy stress. However cells with multiple disruptions (RsbRA, RsbRB, RsbRC and RsbRD) have an increased basal level of sigma-B, indicating this protein is a negative regulator of sigma-B
Cannot be disrupted, suggesting it is a functional antitoxin. No visible phenotype when the relBE3 operon is deleted
Embryonic lethality due to embryo development arrest at globular stage
Inactivation of aprA attenuates both the capacity to persist in the host and pathogenicity. The deletion mutants are able to survive to wild-type levels in immune-deficient Relish flies, indicating that the protease plays an important role in protection against the Drosophila Imd-dependent immune response. Moreover, they persist less well than wild-type bacteria in imd flies over-expressing Diptericin (PubMed:16789834). Pro-Monalysin is found in supernatant derived from the aprA-deletion mutant while the mature form predominates in supernatant from wild-type P.entomophila (PubMed:21980286)
Loss of function mutant (T-DNA insertion) releases the transcriptional silencing of tandem transgenes
Mice show increased propensity for epileptic seizures, proepileptogenic neuronal excitability changes in the hippocampus, and significant citrate level alterations in the CSF and brain tissue (PubMed:32682952). Null mice show perturbations in fatty acids, bile acids, and energy metabolites in liver, serum, and brain (PubMed:35448538)
Impaired progression of the gametophytic division during female gametogenesis leading to arrested embryo sacs at stages ranging from FG1 to FG7 (PubMed:22509260). Normal pollen development, but weaker pollen tube fitness associated with a reduced transmission through the male gametes (PubMed:22509260)
Flat leaves. Altered morphology of abaxial mesophyll cells. Decreased number of trichomes on the adaxial surface and increased number of abaxial trichomes
According to PubMed:10714992, cells have an altered coat protein composition; CotT, YeeK, YxeE, CotF, SafA and SpoIVA proteins are present at increased levels and/or exist as precursors. According to PubMed:16751597, cells show no effects on vegetative growth or spore resistance to heat, chloroform or lysozyme. The germination of YabG mutant spores in L-alanine and in a mixture of L-asparagine, D-glucose, D-fructose and potassium chloride was the same as that of the wild-type spores. Heat treatment for 20 minutes at 60 degrees Celsius, which maximally activates the Tgl enzymatic activity, causes cross-linking of GerQ in isolated YabG-deleted spores but not in Tgl/YabG double-mutant spores. Additionally, the germination frequency of the Tgl/YabG double-mutant spores in the presence of L-alanine with or without heat activation at 60 degrees Celsius is lower than that of wild-type spores
Mutant shows wild-type growth on glucose but a much slower growth rate on malate, fumarate, or succinate plus glutamate (PubMed:16788182). Overexpression of the other three malic enzymes, mleA, maeA or malS cannot compensate for the ytsJ deletion (PubMed:16788182). The ATP concentrations in the mutant grown in minimal medium with glucose are similar to the wild-type level. ATP concentrations decrease by about 20% in malate minimal medium (PubMed:23136871). NADPH overproduction is virtually abolished in the deletion mutant (PubMed:33824210)
No synthesis of chlorophyll f when grown in FRL (705-735 nm, 26-30 umol photons/m(2)/s) (PubMed:27386923)
Plants show a reduced number of petal primordia and abnormalities during further petal development. Defection in sporogenous cell formation in adaxial anther lobes when associated with the disruption of GRXC8/ROXY2 leading to fertility defects
Deficient mice exhibit stronger antitumor immunity
Mice appear healthy and are fertile. Exhibit a loss of taurocholate, estrone sulfate and para-aminohippurate transport in kidney and of fluorescein (FL) transport in choroid plexus
Worms exhibit pleiotropic behavioral defects that are suggestive of reduced synaptic transmission (PubMed:9136770). RNAi-mediated knockdown in the intestine causes a mild defect in the expulsion step of the defecation cycle (PubMed:18852466)
Not essential. Slight repression of sigH, sigF, and lexA, slight induction of sigD. Increased resistance to mitomycin C, reduced survival in mouse-derived J774A.1 macrophages after 6 days growth (PubMed:18039768)
Lethal at the L3/L4 larval stages or at the young adult stage. Mutants are shorter and stouter, and fail to produce a viable progeny. In oocytes, actin is diffused in the cytoplasm and F-actin accumulation at the cell cortex is reduced resulting in deformed oocytes in the spermatheca and the uterus
High frequency of tricotyledons and altered flower morphology. The double mutants tsc10a and tsc10b are not viable
Embryonic lethality around 10.5 dpc, caused by reduced tissue integrity, arrested vasculogenesis and precocious neuronal differentiation (PubMed:11747814). Conditional knockout mice lacking Reck in endothelial cells show central nervous system (CNS) angiogenesis defects, characterized by moderate hemorrhages in the forebrain and vascular malformations in the cortex (PubMed:26658478, PubMed:28803732). Conditional deletion in endothelial cells also cause blood-brain barrier defects in neonates (PubMed:28803732). Phenotypes are caused by impaired beta-catenin-dependent signaling (PubMed:28803732)
Mice lacking Aldh1a1, obtained at the expected Mendelian ratio, are viable and fertile without obvious defects in growth or survival (PubMed:12851412). However, they are more sensitive to retinol toxicity and are less efficient at metabolizing excess retinol to retinoic acid/RA (PubMed:12851412). An excess of retinol leads to the accumulation of retinaldehyde in these mice (PubMed:12851412). Enhanced alcohol consumption and preference is also observed in knockout mice (PubMed:26430123). A consistent lenticular opacification is also detected in old mice (PubMed:17567582)
No growth phenotype is observed for the knockout strain
Normal arbuscular mycorrhizal (AM) symbiosis with AM fungi (PubMed:25841038). Plants missing both PT4 and AMT2-3 fail to establish AM symbiosis with AM fungi in high nitrogen conditions, leading to premature arbuscule degeneration (PAD); these phenotypes are not suppressed in nitrogen-deprived conditions (PubMed:25841038)
RNAi-mediated knockdown causes a severe reduction in fluid-phase endocytosis and phagocytosis (PubMed:15252130). Also, recruitment of actin to phagocytic cups is impaired (PubMed:15252130)
Cell dissociation, spontaneous breakage and ectopic organ fusion. Affected embryo development. Increased arabinosyl and decreased galactosyl residues content in the cell wall
No visible phenotype; due to the redundancy with cls-2 and cls-3. Simultaneous RNAi knockdown with cls-2 produces defective microtubule cortical contacts resulting in abnormal nuclear rotation, defects in maintenance of spindle length and spindle displacement. Simultaneous RNAi knockdown with cls-2 and cls-3 shows nuclear rotation defects and excessive spindle displacement
Mice were born at the expected Mendelian frequency and do not show gross phenotypes at birth (PubMed:31217582). within the first days of life, mice however display reduced size, low body weight and substantially decreased survival (PubMed:31217582). Examination of fecal pellets and internal organs reveal abnormal digestive-tract function, as well as changes in the composition of the intestinal microbiome (PubMed:31217582). Defects are caused by impaired expression of gastrointestinal peptide hormones and development of enteroendocrine cells (EECs) (PubMed:31217582)
No visible phenotype. Mice are viable, develop normally and are fertile. They however display enhanced sensitivity to noxious thermal stimuli under basal conditions characterized by an absence of thermal inflammatory hyperalgesia (PubMed:19805319). In subependymal zone, more intense signal is observed for extracellular N-cadherin (Cdh2) as well as increased levels of full-length Cdh2 without changes in Cdh2 messenger RNA levels (PubMed:24952463)
No visible phenotype. Mice have normal B-cell proliferation and antibody response, but increased T-cell proliferation in response to CD3 signaling. Their T-cells show enhanced activation of JNK and NF-kappa-B. Mice are highly susceptible to TNF-induced skin necrosis
In contrast to other bacteria, in which inactivation of serine protease leads to thermosensitivity, inactivation of HtrA leads to an increased thermotolerance and an increased tolerance to hydrogen peroxide. Inactivation of both HtrA and HtrB leads to growth defects and to thermosensitivity
Decreased levels of type I toxin-antitoxin sRNA orzO, and increased toxicity of toxin ZorO
Mutant is impaired in metal sensing. Deletion leads to partially constitutive expression of the Czc system due to an increased transcription of the czcCBA genes
Does not affect the production of swainsonine
Leads to the accumulation of pre-tRNAs
Male sterility due to distorted pollen grains lacking reticulate exine on their surface
Mice exhibit lymphocyte deficiency and degeneration of the liver parenchyma. Animals die within 3 weeks of age. Mutants show a much higher frequency of CD8 single positive thymocytes (PubMed:24880459)
Leads to reduced virulence on etiolated soybean seedlings
Disruption mutant is unable to synthesize ornithine lipids. It can still induce nitrogen-fixing nodules on plants, but it shows delayed nodulation if compared to the wild type
No visible phenotype (PubMed:17369288). Loss of several tetra-fucosylated N-glycans (PubMed:15364955). Loss of tetra- and tri-fucosylated N-glycans in a fut-8 or fut-1 mutant background (PubMed:26538210). fut-1, fut-6 and fut-8 triple mutants lack all N-glycan core fucose with only one fucose present in the bisecting galactose, thus resulting in the loss of tetra-, tri- and bi-fucosylated N-glycans (PubMed:26002521)
Enhanced sensitivity to mitomycin C
Impairs the production of harzianum A and leads to the production of a larger quantity of the aspinolides B and C, as well as other secondary metabolites including additional aspinolides and their degradation products, gamma-lactones, and hemi-ketals
Mice develop abnormalities in circadian variations in blood pressure and heart rate, in parallel with a reduction of diurnal variations in the sympathetic nerve activity, and impaired rhythmicity of BMAL1 in the blood vessels
Pale green phenotype with reduced phosphatidylglycerol (PG) and chlorophyll contents but no defect in embryo development (PubMed:27541283, PubMed:27614107). Accumulation of phosphatidylglycerophosphate (PGP) 34:3, PGP 34:2 and PGP 34:1 lacking 16:1 (PubMed:27614107). Strongly reduced amounts of other thylakoid lipids such as monogalactosyldiacylglycerol (MGDG), digalactosyldiacylglycerol (DGDG) and sulfoquinovosyldiacylglycerol (SQDG), especially under phosphate deprivation conditions (-P) (PubMed:27614107). Reduced amounts of chlorophyll, but unchanged photosynthetic quantum yield (PubMed:27614107). Altered chloroplasts development (e.g. reduced number of thylakoid membranes) and impaired photosynthetic activity (PubMed:27541283, PubMed:27614107). Reduced mesophyll cells size (PubMed:27614107). Strongly shorter roots associated with a defective order of columella cells in the root apices (PubMed:29476828). Plants lacking PTPMT1, PTPMT2 and PGPP1 have strongly shorter roots associated with a defective order of columella cells in the root apices, with stronger effect than in the single mutant pgpp1-1 (PubMed:29476828)
Cells lacking this gene show drastic morphological alterations before lysis and are unable to grow
Decreases the amounts of 4,4-dimethylergosta-8,14,24(28)-trienol, the product of the Fusarium sterol 14-alpha demethylases (PubMed:23442154). Leads to reduced ability to produce conidia (PubMed:20955812). Results in increased sensitivity to tebuconazole, diniconazole, difenoconazole, flutriafol and prochloraz, but not to triadimefon and propiconazole (PubMed:20955812). Affects ergosterol production in the presence of ebuconazole or triadimefon (PubMed:20955812). Reduces virulence on host wheat ears (PubMed:23442154). Host-induced gene silencing of the 3 genes encoding sterol C14-alpha-demethylase leads to strong resistance of host to Fusarium species (PubMed:24218613)
Slightly lower NDH activity in immature leaves. Smaller version of the NAD(P)H dehydrogenase-photosystem I supercomplex (NDH-PSI) supercomplex (PubMed:19903870). In the double mutant lhca5 lhca6, drastic reduction of NDH subunits accumulation upon increased light intensity (PubMed:21278308)
Ciliary phenotypes such as pericardial effusion, curved or kinked tail, as well as gastrulation defects
Wild-type growth rate at 10 and 30 degrees Celsius, no change upon exposure to H(2)O(2) or diamide
Cells lacking the core proteasome prcBA subunits exhibit reduced growth and persistence in mice. They are also attenuated in interferon-gamma-deficient mice. They also display increased sensitivity to reactive nitrogen intermediates (RNI) and increased resistance to oxidative stress
Decreased susceptibility to TuMV and TEV
Deletion mutant lacks periplasmic nitrate reductase activity, with either glycerol or formate as the electron donor
Morpholino-induced knockdown results in reduction in optic nerve size and mitochondrial depletion (PubMed:31550240, PubMed:31298765). Strongly reduced expression of the developmental regulator genes isl1 and atoh7 in retinal ganglion cell (RGC) precursors (PubMed:31298765). Nonphotoreceptor cells, both in the ganglion cell layer and in the inner nuclear layer, display compromised neuronal specification, whereas cell numbers in both layers are unaltered (PubMed:31298765)
Viable. Males are infertile with reduced testis size, while female fertility is not affected. In the testis, germ cell development arrests at the pachytene spermatocyte stage leading to complete absence of mature spermatozoa
Death between days 1 and 11 after birth, due to a progressive neurological disorder caused by massive cell death. Death is caused by the absence of molybdenum cofactor, resulting in elevated sulfite and diminished sulfate levels throughout the organism. Mice do not possess any sulfite oxidase or xanthine dehydrogenase activity. No organ abnormalities are observed and the synaptic localization of inhibitory receptors appears normal. Long-term rescue results have been obtained in mice lacking Mocs1 thanks to an adeno-associated virus-mediated gene transfer
Single mutant grows on cobinamide (CBI), CBI plus 5,6-dimethylbenzimidazole (DMB) and cobalamin (CBL); double cobB-cobT deletion mutants do not grow on CBI plus DMB (PubMed:8206834). Single mutant does not grow on propionate (PubMed:8955330). Acetyl-CoA synthetase (acs) accumulates in an inactive, acetylated form (PubMed:12493915). Considerably decreased growth on 1,2-propanediol, cells do not excrete more propanediol than wild-type (PubMed:12700259)
Increased resistance to fluoxetine-induced nose muscle contraction. Slow development, embryonic lethality and defect in yolk transport to oocytes leading to accumulation of yolk granules in the pseudocoelomic fluid and appearance of pale eggs. Reduced level of sensitivity to dihomo-gamma-linolenic acid-induced sterility. Cell corpses persist significantly longer than in the wild-type, indicating a cell corpse clearance defect
Leads to strong miconazole susceptibility
Mice display a retarded growth and embryonic lethality at E6.5, due to defects in proliferation rate
Inactivation of the gene abolishes the ability of bacteria to assemble a complete type III secretion apparatus (T3SA) and therefore to secrete the translocon proteins IpaB/SctE and IpaC/SctB, and decreases the amounts of the needle filament proteins MxiH/SctF and MxiI/SctI (PubMed:12864857). Mutant is unable to invade HeLa cells (PubMed:12864857)
Mutants exhibited no phenotype in either head development or somitogenesis
No visible phenotype following infection of SPF C57BL/6 mice
Impairs the production of chaetoglobosin A but leads to the accumulation of 20-dihydrochaetoglobosin A (PubMed:23611317)
Mutant mice display early-onset progressive sensorineural hearing impairment that is more pronounced in the high frequencies. They show an altered organization of outer hair cells and supporting cells and degeneration of the organ of Corti, accompanied by mild degeneration of spiral ganglion neurons, that is most pronounced at the cochlear base
Absence of XcpY results in decreased amount of XcpZ in type II secretion system complexes
Conditional knockout mice deficient in brain are morphologically and organogenically indistinguishable from their heterozygous littermates. They die perinatally with severe hypoxia and massive neuronal apoptosis, notably in the brainstem. Sodium channel currents recorded from cultured neurons of knockout mice are sharply attenuated
Severely stunted shoots and roots, small flowers with very small anthers and little pollen, and very small siliques containing only a few aborted seeds. Impaired splicing of rpl2 and ccmFC mRNAs. Absence of c-type cytochromes, complex III and cytochrome oxidase
No visible phenotype under standard growth conditions
Hypersensitivity to copper sulfate
No visible phenotype and no effect on germination; probably due to the presence of the presequence proteases PREP1 and PREP2
Impairs macrophage killing during infection
RNAi-mediated knockdown results in severe impairment of regenerative capacity. The cycling stem cell population is significantly reduced at 8 days post-injection. Isolated stem cells are unable to repopulate an irradiated (and thus stem cell-depleted) host
Embryos show randomized left-right axes, holoprosencephaly, microphthalmia and a variably expressive curved body axis. Cc2d2a null embryos also have cilia defects, which are exemplified by the absence of Arl13b staining in neural tube and surrounding mesenchyme
RNAi-mediated knockdown of the protein in the hematopoietic system and pericardial cells causes a decrease in macropinocytic uptake by pericardial cells
Mutant is hypersusceptible to long-chained fatty acids such as palmitic acid, oleic acid and linoleic acid
Increases efficiency of DNA conjugation when disrupted in donor strain (PubMed:15314236). Loss of secretion of EsxA and EsxB, but not their expression (PubMed:15687187)
RNAi-mediated knockdown causes lifespan extension (PubMed:25186652). Knockdown causes no obvious other phenotypes, but in an ire-1 mutant background causes sluggish movement, arrested development at the L2 larval stage, and lethality soon thereafter; larvae have intestinal degeneration and develop many vacuoles in the intestinal cells (PubMed:16184190). In combination with RNAi-mediated knockdown of xbp-1, causes lethality early in larval development (PubMed:16184190)
Deletion of the gene results in modestly increased expression of the global regulators agr and saeRS, as well as the gene encoding the toxin alpha-hemolysin (hla) (PubMed:22526672). A substantial increase in expression of the lukF-PV gene is also observed (PubMed:22526672). Deletion of the gene increases the virulence of USA300 in necrotizing pneumonia and skin infection (PubMed:22526672)
Deletion of the gene abolishes growth on carnitine as sole carbon and energy source, but does not affect growth on acetate
Abolishes botcinic acid and botcinin production. Exhibits markedly reduced virulence when the synthesis of botrydoal is also blocked
RNAi-mediated knockdown disrupts differentiation of ASE L/R sensory neurons
RNAi-mediated knockdown at L1 stage results in vulva protrusion and rupture of internal tissues resulting in premature death. RNAi-mediated knockdown in middle-aged adults extends their lifespan
RNAi-mediated knockdown causes a reduction in fatty acid uptake (PubMed:25849533). RNAi-mediated knockdown in the intestine causes a severe defect in the expulsion step of the defecation cycle (PubMed:18852466)
Cells initiate cleavage furrow formation but rarely complete cytokinesis. They grow as giant and multinucleate cells both on a substratum and in suspension culture with increased cell mass but development remains unaffected. Mutants lacking both rgaA and gapA are extremely large, flat and multinucleate, and exhibit cytokinesis defects similar to that seen with simultaneous loss of ctxA and ctxB. Starved null cells form normal fruiting bodies with viable spores at the same time as wild-type cells and the increase in size of the plaque on the bacterial lawn and the terminal phenotype also unaffected. Earlier stages of cytokinesis characterized by accumulation of myosin II at the furrow not affected
Mice show impaired clearance of C.rodentium due to decreased NOD2 signaling (PubMed:23892723). Mice display decreased muramyl dipeptide (MDP)-induced expression of cytokines (PubMed:23892723)
Cardiolipin (CL) deficiency, faster turnover, abnormal CL fatty acyl composition and abnormal muscle mitochondria (PubMed:17082194, PubMed:16855048, PubMed:19700766, PubMed:19114128, PubMed:31110016). Poor motor performance of flight muscles (PubMed:16855048, PubMed:19114128, PubMed:29405656). Significantly reduced climbing speed and endurance which does not improve with endurance training in contrast to wild-type flies (PubMed:16855048, PubMed:29405656). Normal response to cardiac pacing (PubMed:29405656). Male sterility (PubMed:19164547). Male-sterile phenotype can be suppressed by genetic inactivation of iPLA2-VIA, which prevents CL depletion and monolyso-CL accumulation without correcting the abnormal CL acyl composition, suggesting that the abnormal levels of CL and/or monolyso-CL are important pathogenetic factors (PubMed:19164547)
Eliminates more than 70% of aspercryptin production (PubMed:26563584)
Recovers slowly from late stationary phase growth, increased sensitivity to carbonyl cyanide m-chlorophenyl hydrazone, a proton ionophore and respiratory chain uncoupler
Leads to the accumulation of dihydrosorbicillinol (PubMed:28618182)
Plants are not defective in root and leaf elongation, but present shortened internodes and defects in pollen and floral development (PubMed:14688295). Delayed flowering (PubMed:19454733). Male sterile. Defective in anther and pollen development (PubMed:19454733, PubMed:20590996)
Cytokinesis-defective leading to aberrant pollen and embryo sacs
Mutant mice do not exhibit any visible phenotype when maintained in pathogen-free facilities. However, after peritoneal inoculation of Klebsiella pneumoniae, they cannot efficiently fight the infection and show increased lethality
Mice show greater insulin-induced tyrosine phosphorylation of insulin receptor (IR) and insulin receptor substrate 1 (IRS-1) in the skeletal muscle. Antigen- and IgE-mediated passive systemic anaphylactic reactions are enhanced. Erythrocytes exhibit abnormal morphology, increased Ca(2+)-activated-K(+) channel activity and marked perturbation of the erythrocyte membrane tyrosine phosphoproteome
Mice deficient for both Abcg5 and Abcg8 appear healthy and are fertile, but display strongly increased levels of the food-derived plant sterols sitosterol and campesterol in liver and blood plasma (PubMed:12444248, PubMed:14657202, PubMed:25378657). When mice are fed chow containing 0.02% cholesterol, cholesterol levels in blood plasma and in liver are considerably lower than in wild-type (PubMed:12444248, PubMed:14657202). In spite of the increased plasma and liver levels of plant sterols, and the decreased cholesterol levels, the total sterol levels in plasma and liver are closely similar in wild-type and mutant mice (PubMed:14657202). When mice are fed chow containing 2% cholesterol, plasma cholesterol levels remain stable in wild-type, but increase 2.4-fold in mutant mice. In the liver of mice kept on chow containing 2% cholesterol, cholesterol levels increase 3-fold for wild-type mice and 18-fold for mutant mice, resulting in much higher cholesterol levels than in wild-type livers (PubMed:12444248). Dietary cholesterol absorption appears normal in mutant mice, but the absorption of dietary cholestanol, campesterol and sitosterol is increased (PubMed:12444248). At the same time, mutant mice have very low cholesterol levels in bile, suggesting that the increased hepatic cholesterol levels are due to impaired cholesterol secretion into bile (PubMed:12444248). Likewise, the levels of the food-derived plant sterols stigmasterol, sitosterol, campesterol and brassicasterol are strongly decreased in bile from mutant mice (PubMed:14657202). In contrast, biliary phospholipid and bile acid levels appear unchanged relative to wild-type (PubMed:12444248). The blood plasma of mice with liver-specific or intestine-specific disruption of Abcg5 and Abcg8 has nearly normal levels of cholesterol, and mildly increased levels of sitosterol and campesterol (PubMed:25378657). Mice with intestine-specific disruption of Abcg5 and Abcg8 have strongly increased levels of sitosterol and campesterol in enterocytes, similar to that observed for mice with complete gene disruption (PubMed:25378657). In addition, they display strongly increased levels of sitosterol and campesterol in bile (PubMed:25378657). Mice with liver-specific disruption of Abcg5 and Abcg8 have slightly increased levels of campesterol and sitosterol in the liver, and normal, low levels of sitosterol and campesterol in bile (PubMed:25378657). Enterocytes and liver from mice with liver-specific or intestine-specific disruption of Abcg5 and Abcg8 have normal cholesterol levels (PubMed:25378657)
No visible phenotype under normal growth conditions, but mutant plants exhibit multiple specific editing defects in chloroplast transcripts
Strongly reduced di- and trimethylation at 'Lys-4' of histone H3 in embryos and adult germline stem cells. Mutants also display defects in egg laying and fertility with defective germ cell development. RNAi-mediated knockdown disrupts development of the ASE left (ASEL) neuron, causing it to adopt the ASE right (ASER) cell fate (PubMed:21698137)
Accumulation of eugenol but reduced isoeugenol levels in flowers
Dramatically stabilizes CsrB and CsrC RNAs, small RNAs that sequester the global carbon storage regulator CsrA; also decreased transcription of CsrB/C (PubMed:16980588). Decreased biofilm formation, decreased expression of DgcC, a probable diguanylate cyclase and of the curli regulator CsgD. Decreased expression of the curlin subunit CsgB, decreased curli expression at 28 degrees Celsius (PubMed:19332833)
Mutant is differentially attenuated in diverse hosts (PubMed:16803597). Inactivation of the gene causes a minimal defect in growth in the human monocytic cell line U937 and the environmental host A.castellanii, but mutant is severely attenuated for intracellular growth in mouse macrophages (PubMed:16803597). Mutant appears to assemble a fully functional Dot/Icm complex and exhibits wild-type levels of contact-dependent cytotoxicity (PubMed:16803597)
High jasmonate production and PDF1.2 expression upon wounding. Slight reduction of lesion size caused by fungal pathogen. Slight decrease of spider mite reproductive performance
Mutant strain (znuA delection) is attenuated in infected mice, showing decreased splenic CFU. Also confers a protective efficacy similar to that of RB51 and S19 vaccine strains
Mice were born at expected Mendelian ratios and did not show no obvious morphological abnormalities or differences in body or muscle weights. They however show enhanced Ca(2+) handling in skeletal muscle and improved exercise performance
Increased resistance to acid stress, increased sporulation efficiency following DNA damage (by nalidixic acid) (PubMed:19901023). Increases c-di-AMP levels in mid-exponential phase from about 3.8 uM to about 4.3 uM in strain BG214 (PubMed:25616256). Increased levels of c-di-AMP 4-fold during sporulation (PubMed:21566650). Insertion mutations in this gene partially restore antibiotic resistance to the beta-lactam antibiotic cefuroxime (CEF) in a sigM deletion mutant (PubMed:22211522). Decreased sensitivity to MMS and H(2)O(2) (PubMed:25616256). In strain 168 grown in minimal medium and glutamate, 2.2-fold increase in c-di-AMP levels while a double pgpH-gdpP mutant has 4.2-fold increased levels of in c-di-AMP; double mutants die on solid medium after 2 days (PubMed:26240071)
Rough eye phenotype, and/or male sterility and in, some cases, pupal death
Does not affect BOA degradation
Reduced pollen fertility. Pollen grain exhibit a partial formation of coat and impaired water absorption and germination capacities
Flies exhibit larvae that precociously leave the food to form premature prepupae, resulting in abbreviated larval development that translates directly into smaller and lighter animals
Causes embryonic lethality
RNAi-mediated knockdown causes hyperfusion of epidermal cells in embryos
Stay-green phenotype during senescence. Grana stacks fused into large stable stacks during semescence
Mice appear grossly normal and healthy, but have decreased levels of calmodulin-sensitive adenylyl cyclase activity in the brain (PubMed:7816821). They show impaired spatial memory (PubMed:7816821). Mice show a significant reduction in daytime contrast sensitivity (PubMed:24048828)
Shorter root phenotype and impaired phloem function
Mutants fail to grow by nitrate respiration and also fail to reduce nitrate and contain increased amounts of NapA
Increased shoot branching
Abolishes the ability to produce G aflatoxins but not B aflatoxins (PubMed:15528514)
Mice are viable but show male sterility with chromosome synapsis failure. Male mice display atrophied testes, with seminiferous tubules that are narrow with large vacuolated spaces, devoid of late-stage germ cells. Retrotransposons are derepressed due to DNA demethylation
Females grow normally and are healthy. Males display developing sperm flagella abnormalities resulting in infertility. Post-meiotic defects during spermatogenesis with abnormal morphology of elongating and elongated spermatids, including teratozoospermia, premature apoptosis, but without increase in DNA damage. Sperm are immotile with shortened and morphologically abnormal flagella, and altered intraflagellar transport (IFT) and/or intramanchette (IMT) trafficking. Displays normal postnatal multiciliated airway epithelium. Lacks retinal degeneration and kidney cysts formations
Placenta-specific Slc38a2 knockdown reduced fetal weight by 11% at the end of gestation
Cells lacking this gene show normal growth on SI as well as on glucose or myo-inositol (MI) as the sole carbon source
No overall change in lens fiber cell organization, regularity of hexagonal profiles, or positioning of cell nuclei (PubMed:12454043). Opacification of the retinal lens is evident at 1 month of age, with progressive loss of clarity to 10 months of age (PubMed:12454043). Reduced abundance and loss of distinction of intermediate filaments in retinal lens fiber cells (PubMed:15037121). Decreased protein abundance of BFSP1 in the retinal lens (PubMed:12454043). Complete loss of beaded filament structures in lens epithelial cells (PubMed:27559293). BFSP2 and VIM double knockout mice show a complete loss of the cytoplasmic cytoskeleton in retinal lens fiber cells (PubMed:15037121)
Hypersensitive to osmotic stress. Mutant lacks ATP-dependent calcium transport
Deletion mutant shows growth defect and altered morphology. Mycothiol biosynthesis and phosphatidylinositol-based glycolipid synthesis are abolished
Cells lacking this gene can no longer utilize n-alkanes with C chain lengths of 32 and 36, but can still grow with C24, C20, C16 alkanes or acetate as a sole carbon source
Defects in mechanosensory bristle spacing and differentiation in wings and lack of chaetes and macrochaetes in abdominal a4 and a5 segments
Results in drastically higher susceptibility to fluconazole (FLC), itraconazole (ITC), voriconazole (VRC), as well as to the eukaryote protein synthesis inhibitor cycloheximide (CHX)
Embryo-lethal at a early stage of development
Cells lacking this gene show an accumulation of dihydroanticapsin and dihydrobacilysin
Resistance to 8-azaadenine and 8-azaguanine but not to other toxic nucleobase analogs. Deficiency in the uptake of adenine and guanine
Reduced transcription of the plastid ndhF gene
Maternal-effect embryonic lethal with meiotic and mitotic spindle positioning defects in one-cell stage embryos. RNAi-mediated knockdown results in meiosis and mitosis defects in embryos whereby embryos have one or both polar bodies absent, more than one female pronucleus and display irregular female pronuclear migration, which leads to delayed association with the male pronucleus (PubMed:16971515). RNAi-mediated knockdown results in defective mitotic spindle positioning and rotation in which spindles are established in the posterior side of the embryo and on the wrong axis (PubMed:16971515). RNAi-mediated knockdown results in a decrease in length of astral microtubules in embryos, with fewer microtubules extending from their centrosomes during cold conditions (PubMed:16971515). RNAi-mediated knockdown in a let-711 heteroallelic s2587 and it150 mutant background results in inviable embryos which do not hatch, however the astral microtubule length, polar body, female pronuclear migration and mitotic spindle defects of the single zyg-9 RNAi mutant are partially suppressed (PubMed:16971515)
Abolishes canavanine sensitivity (PubMed:3327612). Extends replicative lifespan and leads to distinct changes in transcriptional and translational profiles, including translational activation of the GCN4 transcription factor (PubMed:28228255)
Disruption of the gene decreases (GlcNAc)2 uptake. Mutant shows higher chitinase activity (PubMed:17351098). Null mutant shows medium-dependent development, only failing to produce aerial hyphae and spores on glucose-containig media. Under conditions that allow sporulation, highly aberrant spores with many prematurely produced germ tubes are observed (PubMed:18227241)
No visible phenotype (PubMed:23613767). Tmk1 and tmk2 double mutants, tmk2 and tmk3 double mutants, tmk1, tmk2 and tmk3 triple mutants and tmk2, tmk3 and tmk4 triple mutants have no visible phenotypes (PubMed:23613767). Tmk1, tmk2 and tmk4 triple mutants have a severe reduction in organ size, a substantial delay in growth and development, and a decrease in fertility (PubMed:23613767). Tmk1, tmk2, tmk3 and tmk4 quadruple mutants are embryo lethal (PubMed:23613767, PubMed:24578577)
Mice show progressive hepatomegaly with a 2-fold increase in liver mass relative to total body mass at 1 month of age and a 3-fold increase by 3 months of age
Deletion of cpdR does not result in a gross defect in cell morphology and has no effect on intracellular B.abortus replication and/or survival in human macrophages
No visible phenotype. Mice are viable and fertile and do not display any physiological impairment. Additionally, synaptic properties seem unaffected
Viable and fertile (PubMed:23112336). Gustatory associative learning in response to salt cues is disrupted (PubMed:23112336). Males have reduced reproductive success, due to a range of aberrant mating behaviors (PubMed:23112335)
Cells lacking this gene show a reduced growth rate at high butanol concentrations compared to wild-type. They also show a consistent change in the level of mannitol, D-sorbitol, galactitol, L-tyrosine, 3-amino-3-(4-hydroxyphenyl)propanoate and N-hydroxy-L-phenylalanine
Fishes show reduced iridophores in eyes and operculum, with no detectable phenotype in the trunk (PubMed:29317532). Fishes lacking both alkal1 and alkal2b show a complete loss of eye iridophores (PubMed:29317532). Fishes lacking alkal1, alkal2a and alkal2b are embryonic lethal and display total loss of iridophores (PubMed:29317532)
Double mutants flp-7 myb88 and flp-1 myb88 have strong defects in stomata repartition with large stomatal clusters formation (PubMed:16155180). Increased accumulation of CDKB1-1 in the double mutant flp-1 myb88 (PubMed:20675570). Double mutants flp-1 myb88 have increased susceptibility to drought and high salt (NaCl), as well as increased rates of water loss; these phenotypes are associated with reduced accumulation of many typical abiotic stress gene transcripts. Lower stomatal closure in response to abscisic acid (ABA) treatment (PubMed:21105921). Accumulation of CYCA2-3 in newly formed guard cells in flp-1 myb88 double mutant (PubMed:21772250). The double mutants flp-1 myb88 and flp-7 myb88 treated with oryzalin, a microtubule depolymerizing drug, exhibit round-to-oval-shaped single guard cells (sGCs) associated with increased DNA content due to endoreplication leading to 10C DNA levels. The quadruple mutant flp-1 myb88 cdkb1;1 cdkb1;2 has a reduced number of large single guard cells blocked at mitosis, with strongly altered shape and size and characterized by enlarged nucleus due to endomitosis and endocycling, as well as extensive chloroplast replication (PubMed:24123248). Triple mutants cdka;1 flp-1 myb88 don't have guard cells stacks but accumulates sGCs. Accumulation of CDKA-1 in the double mutant flp-1 myb88 (PubMed:24687979). Increased number of ovules produced by the placenta but reduced female fertility due to defective meiotic entry and progression, and subsequent altered embryo sac development, thus leading to reduced seed set (PubMed:22915737). The double mutants flp-1 myb88 and flp-7 myb88 lack lateral roots with reduced PIN3 levels (PubMed:26578065). Abnormal gravitropic set-point angles (lower than 30 degree) of lateral roots (PubMed:26578169)
Pale green plants with impaired photosynthesis
Cells lacking this gene display no PDH activity
Mice lacking Cyb561 have significantly decreased amounts of norepinephrine and normetanephrine in the adrenal gland and brain while the biosynthesis of dopamine, the norepinephrine precursor, is normal pointing to a defect in the catecholamine biosynthesis downstream of dopamine probably at the level of the dopamine beta synthase
Defects in Sfxn1 are the cause of a transitory hypochromic, microcytic anemia characterized by a large number of siderocytes containing non-heme iron granules (PubMed:11274051). The anemia begins at 12 dpc, is most intense at 15 dpc and is still severe at birth, but disappears by 2 weeks of age (PubMed:11274051). Mutant adults are no longer anemic, but they have an impaired response to hemopoietic stress (PubMed:11274051). Most homozygotes also have flexed tails and a belly spot (PubMed:11274051)
Mice lacking isoform 1 show a reduced flow-mediated dilation of small mesenteric arteries but no significant changes in main cardiovascular function. Increased survival from burn. Prevention of epithelial MLC phosphorylation, tight junction disruption, protein leak, and diarrhea following T-cell activation
Replacing its start codon by AAA (Lys) prevents expression of SpeFL and leads to generation of a prematurely truncated speF transcript, and thus prevents expression of downstream SpeF
Mutant plants are hypersensitive to nitrogen or carbon starvation and show early bolting senescence
Mice are normal but males shown reduced fertility caused by diminished sperm motility (PubMed:27010853). Addition of cAMP analogs almost completely rescue the motility and infertility phenotypes in vitro (PubMed:27010853). Double knockout of SLC9B1 and SLC9B2 results in male infertility with a severe sperm mobility reduction, indicating that these two gene are functionally redundant (PubMed:27010853)
Embryos present defects in the patterning of intersomitic vasculature
Cells lacking this gene show a cold-sensitive phenotype and a filamentous morphology
The kea3 pgr5 double mutant combines the phenotypes of the single mutants in non-photochemical quenching (NPQ) induction upon overnight dark adaptation
RNAi-mediated knockdown results in chromosome segregation and cell division defects in early embryos (PubMed:31216475). RNAi-mediated knockdown results in defective activity of the PIWI-interacting RNA (piRNA) silencing pathway (PubMed:31147388). RNAi-mediated knockdown disrupts the localization of tofu-6 to the perinuclear region of the germline (PubMed:31216475). RNAi-mediated knockdown results in larger tofu-6- and pid-3-expressing foci (PubMed:31216475). RNAi-mediated knockdown results in decreased expression of tost-1 in the germline and in embryos (PubMed:31216475)
TRIM65-deficient mice show impaired NLRP3 ubiquitination and enhanced NLRP3 inflammasome activation
Impaired survival when exposed to pathogenic bacteria S.typhimurium associated with the accumulation of S.typhimuriumin in large vacuoles which fail to undergo autophagy
Flies are viable. In combination with a mutation in ebi, flies show an extra dorsal central bristle phenotype. Flies that lack both sina and sinah show visible eye and bristle phenotypes, which can be explained by an inability to degrade the neuronal repressor, Tramtrack
Inactivation results in the loss of the ability to grow with D-lactate
Enlargement of the floral meristem and increased number of floral organs
No suppression of FRI activity
Cells lacking this gene accumulate maggiemycin. In the absence of the aklavinone intermediate, aklaviketone is apparently hydroxylated at C-11 to form maggiemycin
Muscle detachment in late-stage-16/early-stage-17 embryos
Larval lethal. Conditional knockdown in the ovary results in progressive loss of undifferentiated germline stem cells
Homozygote knockout fishs for the SLC38A9 show no morphological difference at 12 and 24 hours post-fertilization (hpf) (PubMed:35457018). However, a quarter exhibit pericardial edema and small eyes at 48 hpf; the abnormal phenotypes became severe at 72 hpf (PubMed:35457018). The overall body length is decreased at 24 and 72 hpf (PubMed:35457018). While mutant larvae with development defects died at 4-7 dpf, those normally developed have the same viability as wide type and exhibit normal fertility (PubMed:35457018)
Deficient male exhibit sterility associated with globozoospermia
Completely abolishes the production of novofumigatonin and asnovolin A, but accumulates asnovolin I and asnovolin K
Deficient mice have normal phenotypes. Inflammatory reactions are reduced as are some other immunological responses
Reduced binding to and invasion of HBMECs. Growth defect in low-salt medium at 42 degree Celsius
Methionine auxotroph
No visible phenotype; due to the redundancy with IRX15-L. Irx15 and irx15-l double mutants have a mild collapsed xylem phenotype, irregular secondary cell wall margins in fiber cells, uneven distribution of xylan in the cell wall and a lower degree of xylan polymerization, but no visible growth phenotype
Homozygous mutant larvae show arrested development at the first instar stage as they fail to increase in size or develop into the second instar larval stage and die 2-3 days after hatching, without morphological defect. Mutant larvae show an overall reduction of most intermediate and mature rRNA as a consequence of abnormal pre-rRNA processing. Mutants show defects in rRNA processing and aberrant pre-rRNA species. An abnormal cleavage in the 3'-end of the pre-rRNA occurs within the presumptive 28S rRNA but it does not lead to accumulation of a truncated 28S rRNA
Not essential, disruption of rpfC alone has no effect on growth or survival in liquid culture, nor in mouse infection models,although colony size is reduced. Alterations in gene expression are seen. All 5 genes in this family can be deleted without affecting growth in culture, however triple deletion mutants (rpfA-rpfC-rpfB or rpfA-rpfC-rpfD) are not able to resuscitate spontaneously in the presence or absence of O(2), and are attenuated in a mouse infection model
Cells lacking this gene are blocked in YukE secretion (PubMed:23861817, PubMed:24798022). They display an increased bacteriophage SPP1 resistance phenotype (PubMed:15576783)
No effect on sporulation at 37 degrees Celsius, however sporulation decreases at 47 degrees Celsius
RNAi-mediated knockdown results in larval arrest and up-regulation of the aspartic protease ddi-1, indicative of proteasomal dysfunction. RNAi-mediated knockdown in a ddi-1, png-1, sel-11 or sel-1 mutant background results in reduced or failed expression of the proteasomal subunit rpt-3
Seedling lethality after the development of three to four leaves. Non-photosynthetic mutants possess near normal pigment levels but lack one or more elements of the electron transport activity in chloroplasts. Defects in protein targeting across chloroplast thylakoid membrane (PubMed:7664731)
Disruption of the gene has a marked effect on resistance levels to zinc and cadmium, but does not significantly alter the sensitivities to cobalt, nickel or manganese
RNAi-mediated knockdown in a hpl-2 mutant background causes larval arrest
Abolishes CHS3 localization to the bud neck and plasma membrane, with increased protein localization to the trans-Golgi cisternae
Larval lethal at the third instar stage. Third-instar larva are decreased in size and display reduced locomotion activity. In third stage larvae body wall preparations, mitochondria are abnormally shaped, disorganized and have a significantly higher density. Oxygen consumption rate (i.e. mitochondrial respiration) is also significantly lower than the controls
In cells lacking isiA under iron-deficient conditions, approximately 2-fold less chlorophyll is found per cell
Affects the left-right asymmetry of internal organs, but not their specification
Mitochondrial connectivity appears normal, also normal in a fis-2 mutant background (PubMed:24196833, PubMed:18722182). Modest but consistent increase in the number and size of clusters of protein lgg-1, perhaps representing abnormal autophagosomes, in a fis-2 mutant background (PubMed:24196833). RNAi-mediated knockdown inhibits removal of ultraviolet C radiation-induced mitochondrial DNA damage (PubMed:24058863)
RNAi-mediated knockdown results in arrest at the two-fold stage of embryogenesis in the majority of embryos. These embryos have incomplete ventral closure and morphological defects including elongation defects, and either absent or irregularly placed seam cells in the head and tail regions. Surviving larvae also exhibit morphological defects and contain vacuoles
Altered nuclear morphology. In plants lacking both CRWN1 and CRWN2, moderate dwarf and leaf-curling phenotype associated with endoreplication and strongly reduced nuclear size. Plants lacking both CRWN2 and CRWN4 exhibit slightly smaller rosettes. Plants lacking both CRWN1 and CRWN2 exhibit markedly smaller rosettes. Plants lacking CRWN1, CRWN2 and CRWN4 are extremely stunted and set few seed
Results in a severe reduction of adenosine kinase activity
Grows normally with glutathione as a sulfur source
Mutant displays a reduced binding to vitronectin, laminin, plasminogen and epithelial cells, and is more sensitive to killing by human serum compared with the wild type
Reduced number of seeds (PubMed:19366709). The double mutants upg1 and ugp2 display severe growth defects and male sterility due to the absence of callose deposition around microspores (PubMed:20435647)
Morpholino knockdown of the protein causes an accumulation of neuronal progenitor cells resulting in the neural plate expansion
Reduced levels of alpha- and beta-tubulin (PubMed:19825635). Altered development patterns and disturbed microtubules (MTs) organization (PubMed:19825635). Hypersensitivity to high NaCl salt levels (PubMed:19825635). Increased capacity to tolerate freezing temperatures upon acclimation (e.g. 7 days at 4 degrees Celsius) associated with a continuous accumulation of HY5 in cold conditions (PubMed:28412546). The pfd5 pfd6 double mutant is less sensitive to gibberellic acid (GA)-mediated mobilization of PIN2 at the plasma membrane (PubMed:29463731)
Deletion of the gene leads to a drastic reduction in PDIM and PGL production (PubMed:21592957, PubMed:21375593). Mutant shows increased susceptibility to several antibiotics (PubMed:21592957, PubMed:21375593). Mutant is highly attenuated when injected into the zebrafish embryo bloodstream, but virulence is retained when bacteria are injected into the notochord (PubMed:21375593). Deletion leads to an increase in growth yield in vitro (PubMed:21592957)
Mutants appear normal at birth, but during the first week of life they exhibit stunted growth and suffer desquamation, with most dying before weaning (PubMed:23637227). Their subcorneal layers, including the stratum granulosum, stratum spinosum, and stratum basale, are significantly thicker, whereas the stratum corneum is thinner than in wild-type mic (PubMed:23637227)
Embryonic lethality, growth defects, larval arrest, reduced lifespan, and sterility
RNAi-mediated knockdown in the retina of newborn mice results in an increase in the number of photoreceptor cells as a result of a decrease in the number of bipolar cells and a comparable increase in rod cells at postnatal day 21
Leads to a strong reduction by at least 90% of the production of fumonisins B1, B2, B3 and B4, and accumulates 3-keto homologs of fumonisins B3 and B4 (PubMed:12720383)
Double knockout with abo1 results in lethality
When disrupted in a cellulose-synthesizing strain (with a functional bcsQ gene), cellulose is made but colony morphology indicates no curli are made
Deletion of the gene leads to growth inhibition in the presence of elevated levels of Zn(2+), but not Mn(2+) or Cu(2+) (PubMed:33531393). Deletion mutant shows strongly attenuated intracellular growth during D.discoideum infection (PubMed:33531393)
No visible phenotype at birth and during the following six weeks. Male mice tend to develop a slightly decreased glucose tolerance after 13 weeks of age, but this is not observed with female mice. Insulin secretion in response to glucose is unchanged in mutant mice, but it is not potentiated by fatty acids, contrary to what is observed with wild-type mice. On the other hand, wild-type and mutant mice display the same inhibition of the first phase of glucose-stimulated insulin secretion after prolonged exposure to fatty acids or exposure to a high-fat diet (PubMed:17395749, PubMed:18559658). Compared to wild-type, mutant mice that are kept on a high-fat diet display a decrease of the second phase of glucose-stimulated insulin secretion (PubMed:18559658). Mutant mice do not display increased secretion of glucagon-like peptide 1 (GLP-1) in response to oral absorption of corn oil and display slightly increased blood glucose levels after oral absorption of corn oil (PubMed:23403053). Besides, mutant mice display decreased bone density (PubMed:23335512)
Restores pharyngeal pumping but not impaired locomotion in 33 percent of animals overexpressing lin-3
Simultaneous knockdown of Ddc and myc restores increased dopamine levels and the induced male-male courtship observed in the single myc knockdown
Abnormal accumulation of InsP7 and reduced levels of InsP8. Increased weight increase of P.rapae and M.brassicae larvae feeded on mutant plants thus leading to a reduced resistance. Increased susceptibility to the necrotrophic fungi B.cinerea and A.brassicicola. Increased levels of jasmonic acid (JA) and bioactive conjugates such as JA-Leu/Ile and JA-Val upon mechanical wounding, but reduced induction of JA-responsive genes in challenged mutant plants
Deletion mice do not develop signs of autoimmunity, but exhibit defects in induction of tolerance
Decreases cellular chitin level (PubMed:16278457). Decreases capsular diameter (PubMed:32743128). Increases extracellular vesicle secretion (PubMed:32743128)
Results in the formation of aberrant conidiophores exhibiting reiterated cylinder-like terminal cells lacking spores and causes delayed autolysis and cell death (PubMed:20966095). Reduces significantly expression of the gliotoxin biosynthetic gene cluster including gliM, gliP, gliT, and gliZ (PubMed:26032501)
Resistance to miltefosine (cytotoxic phosphatidylcholine analog) and sensitive to duramycin (phosphatidylethanolamine-binding cytoxin)
No visible phenotype. Atxr5 and atxr6 double mutant is smaller than wild-type plants, shows partial decondensation of the chromocenter, decreased H3K27 monomethylation and increased DNA re-replication
Mice show early embryonic lethality and severely diminished fertility
Plants are capable of growth in soil but are more light-sensitive. Plants accumulate wild-type levels of dimeric PSII which assembles and repairs normally, but the quantum yield and O(2) evolution are reduced up to 2-fold. Severe reduction in phosphorylation of D1 and D2 proteins (psbA and psbD) while redox-controlled LHCII phosphorylation is inversely regulated from wild-type, being highly phosphorylated in the dark
Hermaphrodites have an egg laying defective phenotype and a reduced brood size (PubMed:9834196). They display a protruding vulva phenotype and there is a failure of anchor cells to fuse to uterine seam cells (anchor cell-block) (PubMed:9834196). Animals also have defective vulval morphogenesis and gonad migration with increased pi cell divisions, which thus leads to an improper uterine-vulval connection (PubMed:9834196, PubMed:14668410). Defective response to CO(2) sensing (PubMed:23671427)
Knock-down of the gene alters the colony morphology and slows down growth. Knock-down induces aggregation, early biofilm formation and changes in cell wall lipid composition. It also results in decreased survival of Mycobacterium inside macrophages and reduced necrotic death of THP-1 macrophages
Randomization of the left-right body
Loses the ability to produce yanuthone D, but accumulates 7-deacetoxyyanuthone A as well as two C-1 oxidized yanuthone derivatives called yanuthone F and yanuthone G (PubMed:24684908)
Cells lacking this gene can grow in the absence of exogenous riboflavin; this may be due to the presence of the functionally redundant protein YigB
Leads to light-independent loss of conidiation and impairs formation of perithecia (PubMed:25386652). Completely impairs the expression of cellulases, xylanases and the cellulase regulator XYR1 (PubMed:25386652)
No longer toxic to CHO cells when deletion construct is coexpressed with subB (PubMed:15226357)
Loss of export of PrpL, elastase LasB, chitin binding protein D (CbpD), aminopeptidase PaAP, and metalloprotease ImpA, still exports LapA and AprA
Homozygous knockout mice for Abca12 are born with a thickened epidermis and die shortly after birth, as water rapidly evaporates from their skin (PubMed:18957418). In a mouse model for harlequin ichthyosis (HI), homozygous knockout mice are smaller and die within a few hours and their entire body are covered of erythematous skin, making their skin less flexible. The entire skin surface is covered with thick scales and some mice develop skin fissures and eversions of the lips (eclabium). At 18.5 dpc, fetuses develop taut and shiny skin without normal skin folds and show contractures of the limbs. The lungs of the present model mice show signs of alveolar collapse (PubMed:18632686)
Abolishes siRNA production from the centromeric outer repeat region (PubMed:33693625). Decreases H3K9 methylation and impairs heterochromatin silencing; simultaneous disruption of dpb4 exacerbates the effect (PubMed:33693625)
Dwarf phenotype with erect leaves and short grains (PubMed:24299927, PubMed:23526892). Dwarf phenotype is mainly due to decreased cell proliferation and disorganized cell files in aerial organs (PubMed:23526892)
Deletion of the gene causes a strong decrease in sulfite oxidation rate
Temperature-sensitive defects in the formation of gut granules during embryogenesis (PubMed:24501423). At 15 degrees Celsius, pretzel-stage embryos have a reduced number of gut granules in intestinal cells, and at 22 degrees Celsius, pretzel-stage embryos completely lack gut granules in intestinal cells (PubMed:24501423). At 25 degrees Celsius, many embryos arrest by the pre-bean stage before elongation, and 76% of these embryos contain gut granules irregularly distributed throughout the embryo (PubMed:24501423). Defective apoptotic germ cell corpse digestion with delayed degradation of chromatin in late germ cell corpses (PubMed:18923146). This results in increased numbers of germ cell corpses at 20 degrees Celsius during embryogenesis and post the L4 stage of larval development, and furthermore the retention of cell corpses for a longer duration of time (PubMed:18923146). Impaired formation of endosomes and lysosomes in coelomocytes, in particular there is impaired formation of recycling endosomes (PubMed:18923146). In addition, there are endosome/lysosome fusion defects in coelomocytes (PubMed:18923146, PubMed:26783301). RNAi-mediated knockdown results in defective endosome maturation with the accumulation of small vesicles near the gut lumen and large endosomes/lysosomes on the basal side of the cell (PubMed:25273556). Double knockout with either sorf-1 or sorf-2, results in larger endosomes and larger lysosomes and thus suppresses the endosome/lysosome fusion defect in the vps-18 single mutant (PubMed:26783301)
Mutation makes E.coli resistant to the toxic proteins encoded by the gef gene family
Slight reduction in motility. Partially resistant to nicotine-induced paralysis; resistance is further increased in a mak-2 gk1110 mutant background. Normal localization of several components of the sarcomere including unc-52, unc-112, unc-95, atn-1,unc-89 and myo-3
Homozygous mutants are lethal (PubMed:25628629). In hemizygous mutants, increased expression of ProDH1 (PubMed:25628629). Reduced proline accumulation in response to salt (NaCl) (PubMed:25628629)
No visible phenotype and wild-type levels of both Hexadeca 7,10,13-trienoic acid (16:3(7Z,10Z,13Z)) and leaf chlorophyll content
Late flowering, especially under long-day conditions (PubMed:24127609, PubMed:24614229). Reduced expression of FT and SOC1 (PubMed:24127609)
A single chpC disruption and double chpC-chpH knockout have no phenotype; a quadruple chpA-chpC-chpD-chpH knockout has delayed aerial hyphae formation and sporulation. A quintuple chpA-chpB-chpC-chpD-chpH knockout has a longer delay in aerial hyphae formation and an almost complete lack of sporulation. The quintuple knockout still expresses ChpE, ChpF and ChpG (PubMed:12832397). Quintuple knockout chpA-chpB-chpC-chpD-chpH has strongly delayed aerial hyphae formation, makes many fewer aerial hyphae but no effect on viability of the spores produced. Further deletion of chpE leads to more severe effects, and on rich media few aerial hyphae are produced after prolonged growth. Those few hyphae do differentiate into spores and have a rodlet layer (PubMed:12832396). Deletion of all 8 chaplin genes on minimal medium leads to severely disrupted aerial hyphae that collapse on the colony surface and are not hydrophobic. A few spore chains can still be made, but they have neither rodlets or amyloid-like fibers. rdlA and rdlB mRNA are down-regulated (PubMed:15228525, PubMed:17462011). Deletion of all 8 chaplin genes on rich medium leads to a reduced abundance of aerial hyphae without rodlets and occasional spore chains on surface hyphae. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011). Deletion of the 3 long chaplins (ChpA-ChpB-ChpC) results in a 24 hour delay in aerial hyphae formation, while rodlets are about 1.5-fold longer than wild-type (PubMed:22296345). Deletion of all 8 chaplin genes significantly reduces cellular attachment to a hydrophobic substrate; thin fibrils instead of fimbrae are detected. The long chaplins (ChpA, ChpB and ChpC, as seen by near wild-type attachment of the hextuple chpA-chpB-chpC-chpD-chpE-chpH knockout) are not essential but may contribute to cellular attachment (PubMed:19682261)
Shows attenuated virulence in guinea pigs. Mutant invades alveolar macrophages normally, but shows slower growth than wild-type strain. The mutant is twofold more susceptible to killing by human beta-defensin 2 but not to killing by other cationic peptides, serum complement, or polymorphonuclear neutrophils
Has a darker body color (PubMed:32709620). Shows ectopic pigmentation in the wing hinge, the posterior pupal case, leg joints and cuticular sutures (PubMed:32709620). RNAi-mediated knockdown in astrocytes, does not affect numbers of astrocytes present in the brain (PubMed:32955431). Shows normal baseline patterns and amounts of daytime and nighttime sleep, but while awake are less active (PubMed:32955431). Upon overnight mechanical sleep deprivation, results in increased recovery sleep next day (PubMed:32955431). RNAi-mediated knockdown in neurons results in normal patterns of baseline sleep (PubMed:32955431). Shows lower levels of activity while awake during daytime (PubMed:32955431). During the night, increases duration of sleep bouts and decrease their numbers, suggesting improved sleep consolidation at night (PubMed:32955431). Do not display enhanced recovery sleep the next day following overnight mechanical sleep deprivation (PubMed:32955431)
Does not affect the percentage or circadian distribution of rest and waking (PubMed:10710313, PubMed:32955431). Shows normal amounts and pattern of activity (PubMed:10710313, PubMed:32955431). Increases homeostatic sleep following deprivation (PubMed:10710313, PubMed:32955431). Reduces catabolism of serotonin and dopamine in the brains in response to sleep deprivation, leading to inappropriate accumulation of these monoamines (PubMed:32955431)
Mice display resistance to diet-induced obesity: they show strongly reduced adipose tissue mass and triglyceride content but normal adipogenesis accompanied by higher energy expenditure and increased fatty acid oxidation in adipocytes (PubMed:19136964). Mice show resistance to infection by picornaviruses, such as coxsackievirus A10, probably due to reduced viral genome release into the host cytoplasm (PubMed:28077878). The eye lens of knockout animals shows no growth defect, but the degradation of mitochondria, the endoplasmic reticulum and lysosomes is almost completely suppressed at postnatal day 0.5 and at 2 months and membranous organelles persisted at this time point (PubMed:33854238)
Mice survive to adulthood and show biomineralization defects such as severe amelogenesis imperfecta (AI). In addition, mice develop disseminated calcifications of muscular arteries and intrapulmonary calcifications, similar to those of fetuin-A (Ahsg) deficient mice, although they are normocalcemic and normophosphatemic, with normal dentin and bone
No visible phenotype. Mice exhibit defasciculation of the facial branchiomotor nerve and of the ophthalmic branch of the trigeminus, with variable severity. In mice lacking both Plxna3 and Plxna4, migrating neurons do not show the normal response to Sema3A and Sema3F and do not migrate away from these semaphorins (in vitro)
Embryonic stem cells (ES cells) exhibit accelerated differentiation in the early stages which may be attributable to increased availability of soluble histones
Mutants are growing in chains of 3 to 6 cells
Death by 12.5 dpc. At 10.5 dpc, embryos are smaller and fail to undergo axial rotation observed at 8.5 dpc in wild-types and present dilated hearts and open neural tubes
Perinatal lethality (PubMed:23082226). Mice show a greatly distended bladder, underdeveloped diaphragm and a reduction in total skeletal muscle mass (PubMed:23082226). Defects are caused by defects in innervation of major organs and tissues (PubMed:23082226). Mice lacking both Sarm1 and Nmnat2 are viable and survive: Sarm1 deficiency corrects axon outgrowth in mice lacking Nmnat2, independently of NMNAT metabolites, preventing perinatal lethality (PubMed:25818290)
Zebrafish mutants lacking cfap53 display total organ heterotaxia
Complete embryonic lethality. Embryos die between 3.5 and 7.5 dpc
Neonate lethality, due to defects in the development of the heart outflow tract and in aortic arch patterning, plus defects in peripheral vasculature. Mice also display skeletal defects, but these may be caused by defects in the embryonic vasculature
Reduced hypocotyls length in light conditions and in response to ethylene due to reduced cell elongation and associated with the disruption of cortical microtubules (PubMed:29167353). Suppressed effects of submergence on hypocotyl elongation and cortical microtubule reorganization (PubMed:31638649)
Inactivation of the gene precludes growth of the strain with 5-deoxyribose
Deletion of all but the first 99 amino acids confers multiple defects in several cellular processes, including increased sensitivity to UV irradiation. It is not clear if this is a complete disruption or not, as in C.crescentus and E.coli this gene cannot be disrupted
Develops fewer, smaller, incisors at 3 months of age in a transcription factor ASCL5/AmeloD knockout background (PubMed:30426815). Epithelial cell invasion is inhibited and CDH1/E-cadherin ectopically expressed in dental epithelial cells at 3 months of age, in an ASCL5 knockout background (PubMed:30426815)
Cells have a weak magnetic response and make magnetosome membranes. Magnetosomes are about half the size of wild-type, but nearly as numerous (PubMed:20212111). Deletion of this gene with amb1002 to amb1007 give smaller, elongated magnetite crystals, does not alter subcellular localization of MamC, MamF, MamI or MmsF (PubMed:25775527). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
Disruption of tatE affects the correct localization of multiple enzymes whose precursors bear twin arginine transfer peptides. Export is completely blocked when both tatA and tatE are inactivated
No effect on cell growth, significantly reduces export of the cell wall protein SraP. The small amount that is exported seems to be glycosylated normally
Loss of QRI7 leads to the formation of mitochondria with abnormal morphology and no DNA
Leads to reduced growth on benzoic acid (Ref.6). Growth is also reduced on benzaldehyde, benzyl alcohol, and cinnamic acid (Ref.6)
Deletion of sdmA and sdmB results in complete loss of sterol C-4 demethylation
Mice have normal growth and reproductive function, and normal platelet counts
Increases efficiency of DNA conjugation when disrupted in donor strain (PubMed:15314236). Loss of detectable protein for EsxA and EsxB (PubMed:15687187)
No visible phenotype. However basal insulin secretion is modestly increased in pancreatic islets of KIRREL2 deficient mice
No visible phenotype under normal growth conditions (PubMed:27748769). Roots of plants lacking LAZY2, LAZY3 and LAZY4 exhibit a negative gravitropic response, and grow upward in the opposite direrction of root gravitropism (PubMed:27748769). Increased branch angles of lateral roots and reduced length of primary root (PubMed:28029738, PubMed:32130643)
Cells lacking this gene fail to grow under aerobic conditions, with accumulation of coproporphyrin-III
Loss of accumulation of methyl salicylate upon pathogen infection, no accumulation of salicylic acid or its glucoside in uninoculated leaves and no development of systemic acquired resistance. Increased attractivity to parasitoids
Mutant fails to grow on sulfoquinovose as a sole carbon source
Cells are hyper-sensitive to actin depolymerizing drug, latrunculin A (Lat A). Deletion mutants are unable to complete septum formation upon LatA treatment, but are able to suppress the lethal, multiseptate phenotype conferred by the constitutive hyperactivation of the septation initiation network (SIN)
No visible effect on infection of HeLa cells
Inhibited terminal erythroid cell proliferation and terminal enucleation, as well as reduced accumulation of hemoglobin. Impaired transcription of many genes involved in cell proliferation and apoptosis, and of erythroid-specific genes involved in hemoglobin biosynthesis, such as HBA and SLC25A37/MFRN. Enhanced stability of CTNNB1; accumulation of beta-catenin leading to the potentiation of beta-catenin-mediated cell proliferation and tumor formation. Small eyes with deficient lens, abnormal retinal lamination, and thickened retinas
Mutants block programmed cell death (PubMed:9604928). In an ain-1 mutant background, enhances the proportion of animals arrested at the larval stage, with egg-laying defects and with a ruptured vulva (PubMed:25432023)
Leads to white colonies with decreased conidiation and aerial hyphae formation (PubMed:27696999). Impairs autophagy by the accumulation of the intermediate of autophagosome (PubMed:27696999)
Males appear viable and fertile whereas females are sterile (PubMed:25099506, PubMed:25353988). Female pre- and post-mating behaviors, such as courtship and post-mating rejection, are not affected and sperm storage appears normal (PubMed:25099506, PubMed:25353988). However, ovulation and egg-laying is severely impaired and females display a strong delay in copulation rates (PubMed:25099506, PubMed:25353988). Ovaries are enlarged due to a higher number of retained eggs and the small number of eggs that are laid are not fertilized (PubMed:25353988). Larvae fail to respond to starvation by increasing locomotor activity (PubMed:21186359). Reduced growth of octopaminergic and glutamatergic (type I and type II) neuromuscular junctions (PubMed:21186359). Decrease in the number of terminal type I and type II boutons and in the motile filopodia-like extensions (synaptopods) which form during the expansion of type II terminals in developing larvae (PubMed:21186359)
Deletion of the gene reduces cellular molybdate concentrations and results in inhibition of anaerobic growth and nitrate reduction
Decreases the mRNA level of genes involved in amino acid biosynthesis (PubMed:29432178). Increases the mRNA level of genes involved in the response to nitrogen starvation, including genes required for the mating response (PubMed:29432178). Decreases vegetative cell population growth rate in low nutrient conditions (PubMed:29432178)
Elevated levels of cAMP
Failure of the pairing of homologous chromosomes during meiosis (asynapsis or non-homologous synapsis) in both male and female gametophytes
Long roots in young seedlings and large inflorescences in adult plants. Arrested seedling development in response to glucose
Viable, with no gross morphological or behavioral phenotypes. Males are infertile with complete absence of mature sperm. Spermiogenesis arrests at the round spermatid stage, accompanied by extensive apoptosis within the seminiferous tubules. Expression of spermiogenesis-associated genes TNP1, TNP2, PRM1 and PRM2 in testis is significantly reduced
Disruption of this gene is lethal
Cells lacking this gene are viable, but those lacking both arfA and ssrA are non-viable (PubMed:21062370)
Neural tube and eye defects in embryos followed by death. By 9.25 dpc, mutant embryos show failure to close the cranial neural tube. About 15% of homozygous mutant embryos exhibit severe exencephaly, along with a wavy spinal neural tube and a shortened anterior/posterior body axis, and die around 10.5 dpc. Remaining embryos exhibit complete exencephaly from the forebrain to hindbrain. Most embryos die by 14.5 dpc, but a few survive to birth and die shortly thereafter. Embryos also have eye defects: they display overgrowth of the neural retina and retinal pigment epithelium. Embryos also display coloboma at 12.5 dpc and 16.5 dpc, due to defects in closure of optic fissure. Defects are due to elevated proliferation and abnormally phosphorylated, inactive PP1, resulting in RB1 hyperphosphorylation, derepression of E2F targets, and abnormal cell-cycle progression. Embryos also show embryonic gastrointestinal defects due to colon hypoganglionosis, which resembles human Hirschsprung disease: ENCCs within the embryonic gut display a collective cell migration defect and show undirected cellular protrusions and disrupted directional and chain migration
Deafness and blindness due to degeneration of sensory receptors in internal ear and retina (PubMed:12808454). Mice show impaired hearing and reduced locomotor activity and rearing/grooming behaviors (PubMed:33321164). Show defects in the mucosal protective responses to luminal acid, both in the pH recovery of enterocytes after luminal acid exposure and in the acid-induced HCO3(-) secretory defect in the duodenum (PubMed:22586225, PubMed:23401617). Knockdown in mesenteric small arteries leads to a dramatic decrease in the Na(+)-dependent base influx and in steady-state pH (PubMed:16439691)
Causes approximately 30 percent embryonic lethality (PubMed:26842564). RNAi-mediated knockdown does not cause any visible phenotype (PubMed:20977550). Cell division at the 3-cell stage is delayed. In a cdc-48.1 (tm544) mutant background, the delay in cell cycle progression is further enhanced and DNA replication is impaired resulting in the formation of DNA repair rad-51 foci (PubMed:26842564). In addition, cdt-1 degradation and disassembly of cdc-45 and sld-5 from the chromatin during mitosis is impaired (PubMed:26842564). Simultaneous RNAi-mediated knockdown of lrr-1, causes a failure to disassemble components of the CGM helicase complex psf-1, cdc-45 and spd-5 from the chromatin resulting in their abnormal association with chromatin during mitosis (PubMed:28368371). Simultaneous RNAi-mediated knockdown of ubxn-1 and ubxn-2, causes 50 percent embryonic lethality (PubMed:20977550). The surviving hermaphrodite progeny are sterile due to a lack of sperm (PubMed:20977550). Abnormal accumulation of sex determination terminal factor tra-1 (PubMed:20977550). Germline development is normal (PubMed:20977550). In males, sperm production is normal (PubMed:20977550)
No visible phenotype when grown under normal conditions (PubMed:16384909). Shorter roots less sensitive to exogenous auxin (PubMed:17259265). Reduced gravitropism (PubMed:17259265). No effect on root hair patterning or root hair growth (PubMed:16384909). Defective in the hydrolysis of phospholipids, reduced capacity to accumulate galactolipids and premature change in root architecture in response to phosphate starvation (PubMed:16617110). Decreased accumulation of phosphatidic acid in roots under phosphate-limited conditions (PubMed:16384909). No effect on the concentration of phospholipids and galactolipids in phosphorus-starved roots (PubMed:16891548). Pldzeta1 and pldzeta2 double mutants show a smaller decrease in phosphatidylcholine and a smaller increase in digalactosyldiacylglycerol in phosphorus-starved roots (PubMed:16891548). Pldzeta1 and pldzeta2 double mutants show reduced primary root elongation and increased lateral root elongation under low-phosphate conditions (PubMed:16384909)
Cells lacking this gene are unable to utilize acetoin as carbon source
Reduced expression of heat stress-inducible genes leading to an enhanced sensitivity to heat stress (PubMed:25490919). Impaired ability of GAPC to enhance heat tolerance of seedlings and to promote the expression of heat-inducible genes (PubMed:32651385)
Rescues temperature-sensitivity of MPT5 deletion. Partially suppresses the hydroxyurea (HU) sensitivity of MPT5 deletion
In the absence of CF50, secreted countin is degraded suggesting that it may protect countin from degradation
Embryos die before 11.5 dpc and display various abnormalities, including wavy neural tube, small branchial arches and defects of cardiovascular system
Essential, it cannot be knocked out. As SSB levels are depleted growth slows, tolerance to ionizing radiation and UV light decreases rapidly. Cannot be complemented by ddrB
Does not impeair avirulence in Pi33 resistant rice cultivars
Shows increased susceptibility to the azole drugs ketoconazole, itraconazole, and fluconazole; drugs that act on ergosterol biosynthesis such as terbinafine, fenpropimorph, and lovastatin; as well as malachite green. Leads to lower ergosterol levels. Decreases pyroptosis but has little effect on filamentation in the macrophage
RNAi-mediated knockdown severely reduces adult survival following the ingestion of E.carotovora
Abolishes localization of RTT106 to the HTA1-HTB1 promoter
Deletion of the gene results in increased sensitivity to cadaverine and putrescine, but not to spermidine and spermine
Causes early embryonic lethality
Impairs the production of deacetyl astellolides A and B and leads to the accumulation of dideacetyl astellolides A and B
Loss-of-function mutant pll1-1 (T-DNA insertion) shows suppression of clavata mutant phenotypes. Redundant with POL. Pol and pll1 double mutant inis seedling lethal
Lethality in 98.7% of embryos
Reduced nuclear size and altered nuclear morphology. In plants lacking both CRWN1 and CRWN2, moderate dwarf and leaf-curling phenotype associated with endoreplication and strongly reduced nuclear size. Plants lacking both CRWN1 and CRWN4 exhibit slightly smaller rosettes. Plants lacking both CRWN1 and CRWN2 or both CRWN1 and CRWN3 exhibit markedly smaller rosettes. Plants lacking CRWN1, CRWN2 and CRWN4 or CRWN1, CRWN3 and CRWN4 are extremely stunted and set few seed
Embryonic lethal showing loss of photoreceptors (PubMed:8033205, PubMed:8223245, PubMed:23757412). In larvae, RNAi-mediated knockdown results in a transformation of type II neuroblasts into type I neuroblasts, elimination of intermediary neuronal progenitors (INP) and generation of extra type II neuroblasts; in the ventral nerve cord, results in increased numbers of type I neuroblasts (PubMed:27510969, PubMed:28899667, PubMed:27151950). Simultaneous RNAi-mediated knockdown of the zinc-finger transcriptional repressor erm, the transcriptional repressor E(spl)mdelta-HLH or the transcriptional repressor dpn restore normal neuroblast numbers (PubMed:28899667). Simultaneous RNAi-mediated knockdown of N partially restores normal neuroblast numbers and inhibits ectopic erm expression in the central brain and ventral nerve cord (PubMed:27151950)
Longer primary roots and more lateral roots in the RNAi mutant
Deletion of the gene results in the generation of a small colony variant (SCV) morphology in PAO1 (PubMed:20300602). Mutant exhibits slow growth, reduced motility, a highly aggregative and wrinkled colony morphology, strong attachment to surfaces and strong, exopolysaccharide-dependent resistance to macrophage phagocytosis (PubMed:20300602). The deletion mutant, although suffering from a tremendous growth disadvantage, shows characteristic persistence behavior under antibiotic selection and during prolonged infection in vivo (PubMed:20300602)
Increased susceptibility to the oomycetes Phytophthora brassicae and Phytophthora capsici
SMU_746c-SMU_747c deletion affects biofilm formation in a medium- and pH-dependent manner. Mutants show a reduced ability to grow in acidified medium, but they survive both short-term or long-term acid stress. Mutants have lower glycolytic activity. Deletion does not affect membrane proton permeability
Mice homozygous embryos for the Ppp1r35 gene are lethal during early embryogenesis (PubMed:32628936). Homozygous embryos are capable of initiating and completing gastrulation as well as specifying the anterior/posterior and the dorsal/ventral axis, but exhibit a developmental delays which are the result in the failure to progress past 8.5 dpc to 9.0 dpc (PubMed:32628936)
Young-adult knockout mice are healthy and fertile, grow normally and show no abnormalities in hematogram or serum chemistries. However they show increased inflammation levels, impaired host defense, and neuropathology (PubMed:20026663). Knockout animals displays neuronal outgrowth deficit. They exhibit increased neuron death and microglial activation upon central nervous system injury (CNS). Conditional knockout mice exhibit a reduction in dopaminergic neurons and increased microgliosis after CNS injury (PubMed:23041626). In neurons, conditional knockout mice show a significant delay in axonal regrowth and functional recovery after crush (PubMed:28453791). At 2 months of age, knockout animals exhibit up-regulation of the expression level of many lysosomal proteins, including that of cathepsin B/CTSB, cathepsin L/CTSL, dipeptidyl peptidase 2/DPP7 and LAMP1. At 4 months of age, knockout mice show increased locomotor activity in the open-field behavior test as compared to wild-type animals. They are also less anxious and disinhibited than wild-type littermates. Retinal degeneration can be observed as early as 5 months of age (PubMed:20026663, PubMed:23041626, PubMed:28453791). Mice deficient in both PGRN and TMEM106B are born at normal Mendelian frequency and do not show any obvious growth defects or body weight changes. At around 3.5 months of age, the animals develop severe ataxia, hindlimb weakness, reduced motor activity, altered clasping behavior and eventually premature death. Neuronal loss and severe microglia and astrocyte activation are observed in the spinal cord, retina, and brain (PubMed:32761777, PubMed:32852886, PubMed:32929860). Myelin degeneration occurs in the spinal cord (PubMed:32761777). Drastic autophagy and lysosomal abnormalities, as well as other pathological changes related to frontotemporal lobar degeneration (FTLD)/amyotrophic lateral sclerosis are observed (PubMed:32761777, PubMed:32852886, PubMed:32929860). Most studies consistently show that loss of TMEM106B exacerbates lysosome abnormalities found in GRN-single knockout animals, likely contributing to neuronal dysfunction and neuronal death (PubMed:32761777, PubMed:32852886, PubMed:32929860). However, one study reports that the expression levels of most lysosomal proteins are normalized in double knockout mice and comparable to those of wild-type animals and some behavioral phenotypes observed in GRN-single knockout mice, such as locomotor hyperactivity, disinhibition and retinal degeneration, are rescued in double knockout (PubMed:28728022)
Mice display growth plate abnormalities, spontaneous fractures, bowed long bones, osteomalacia and scoliosis in early life (PubMed:20684022). Primary cultures of tibial growth plate chondrocytes and chondrocyte-derived matrix vesicles (MVs) show reduced mineralizing ability, and plasma samples show reduced levels of Alpl/Tnap and elevated plasma diphosphate (inorganic pyrophosphate; PPi) concentrations (PubMed:20684022). Mice lacking both Phospho1 and Alpl/Tnap show a complete absence of skeletal mineralization, leading to perinatal lethality (PubMed:20684022)
Leads to decreased virulence in a Galleria mellonella model
Cells lacking this gene are unable to produce mitomycins A and B, and accumulate 6-demethylmitomycin A and 6-demethylmitomycin B
Mutants show lack of surface piliation and twitching motility (PubMed:26359492, PubMed:7854130). Although piliation is abolished, PilA stability is not affected (PubMed:20338182)
Inviable (PubMed:12970194). Decreases cytosolic iron-sulfur (Fe-S) protein assembly (PubMed:31040179)
Mice display no apparent anatomical abnormalities. They are however anemic, show progressive postnatal growth retardation, and at birth have elevated liver iron stores compared with wild-type littermates. None survive for more than 7 days. Heterozygotes appear normal, showing no significant hematological abnormalities. However, by 8 weeks, their liver iron content is lower than in wild-type littermates
Embryos die between embryonic day 7.5 (E7.5) and E8.5, due to dysregulation of pluripotency and lineage specific markers in embryonic stem cells (ESCs). Embryos show abnormal embryonic body differentiation
Cells lacking this gene show a defect in the delocalization of competence proteins that is not related to altered expression of the com genes on the levels of either transcription or translation. Inactivation of mcsB also decreases transformability (PubMed:19226326). CtsR is no more degraded (PubMed:30962626)
Knockout leads to early embryonic lethality
Cells lacking this gene show 23% decrease in the amount of acetol
Targeted gene disruption leasd to a reduction in ACT-toxin production and pathogenicity, and transcriptional knockdown of ACTTS2 using RNA silencing results in complete loss of ACT-toxin production and pathogenicity (PubMed:20055645). Does not affect growth rate, spore formation, and spore germination (PubMed:20055645)
Slight ethylene hypersensitivity
Mice die perinatally and exhibit severe malformations of the axial skeleton. Pedicles of the neural arches and proximal ribs are not formed. In addition, dorsal root ganglia are disorganized. In the hypothalamo-neurohypophysial system, neurons are viable and able to express neuropeptides; however, the connectivity of magnocellular neurons with posterior pituitary elements is compromised
Reduced fertility. Reduced number of seeds
Cells lacking this gene lose the ability to produce pyrrolnitrin and accumulate MDA
Loss of excision of 8-oxoG from dsDNA. No significant growth in the presence of 3 mM H(2)O(2). 4-fold increase in mutation frequency upon plating on rifampicin (mutator phenotype); an increase in A to G and C to G mutations is seen
Ectopic and precocious expression of AGAMOUS, leading to partial homeotic transformation of the external floral organs
Loss of ACNase activity
Does not affect growth on glucose. Mutant shows a slight growth retardation on fructose
Mice appear healthy and show no signs of cardiac dysmorphogenesis, contractile dysfunction, hypertrophy, or heart failure but are highly susceptible to the induction of polymorphic ventricular tachycardia, including arrhythmia (PubMed:11747815, PubMed:23713033). Myocytes show a complete and selective loss of I(To) current in the heart (PubMed:11747815, PubMed:23713033). This is due to the loss of KCND2 protein in the heart ventricles (PubMed:23713033)
Mice have increased number of myeloid and lymphoid cells on peripheral blood compared to wild type controls. Red blood cells are small-sized but increased in number. In bone marrow, cells show higher colony forming units
Normal xyloglucan (XyG) levels (PubMed:32737163). Plants missing several xyloglucan synthases (e.g. CSLC4, CSLC5, CSLC6, CSLC8 and CSLC12) have no detectable XyG levels and several associated phenotypes including reduced stems height and leaves area, as well as shorter root hairs and reduced pollen tube formation ability (PubMed:32737163)
Caused higher susceptibility to nocodazole and rhodamine 6G (R-6G) but higher resistance to cycloheximid (CHX) (PubMed:29378705). Causes further increase in susceptibility toward fluconazole and itraconazole, when AFR1 and AFR2 are also deleted (PubMed:29378705)
Negative mutants fail to enter the G0 phase under conditions of carbon limitation
Reduced fertility due to abnormal embryogenesis and integument formation. Abnormal seed coat and leaves epidermis, with transient fusion between adjacent developing leaves and reduced hydrophobicity of leaf surfaces. Decreased numbers of giant cells in sepal epidermis of acr4-24 (PubMed:25315606)
RNAi-mediated knockdown causes early larval arrest. In adults, results in sterility. Causes malformations of the gonad arms (empty or misshaped) and a protruding vulva (PubMed:24929033). Abnormal germline development characterized by a decrease in the number of proliferating germ cells in the mitotic and transition zones. At the diplotene stage, cells are disorganized and have enlarged nuclei. Oocytes have abnormal shape and large DNA aggregates next to abnormally located sperm. In addition, 50 percent of cells fails to decrease mpk-1 phosphorylation upon pachytene stage exit (PubMed:24929033, PubMed:25688864). RNAi-mediated knockdown in a let-60 n1046 mutant background suppresses the formation of multivulva (PubMed:24929033)
Blocked in the perpetuation of CNN, CG and CNG methylation in repeated endogenous DNA accompanied by a reduction in long 24-26 nt siRNAs. Transient loss of post-transcriptional gene silencing (PTGS) in young leaves. Reduction of heterochromatin association into chromocenters, coincident with losses in cytosine methylation at pericentromeric 5S gene clusters and AtSN1 retroelements. Altered cell-to-cell movement of siRNAs beyond the vasculature. Release of transposon silencing. Not impaired RNA-directed DNA methylation-dependent (RdDM) silencing. Defective in the maintenance of post-transcriptional RNA silencing
Thicker leaves due to enlarged mesophyll cells when grown in ambient air and associated with altered thylakoid membrane assembly and starch granule ultrastructure (PubMed:28202596). Dwarf plants characterized by reduced lipoylation of lipoylated proteins and altered metabolomes due to reduced catalytic activity of lipoylated enzymes; these phenotypes are partly reversed when grown in 1 percent CO(2) atmosphere (PubMed:28202596). Depleted 3-hydroxytetradecanoic acid levels (PubMed:28202596)
Homozygous knockout males are infertile, whereas females have normal fertility. Sperm from knockout mice display severe impairment in manchette formation, amorphous sperm head shape and flagellar defects, resulting in reduced sperm motility. Sperm of homozygous knockout males displays a significantly reduced acrosome reaction and decreased viability
Mice are viable and fertile and show no alterations in FSH synthesis or secretion or in ovarian and testicular function. According to PubMed:23143598 male mice show diminished pituitary and serum thyroid-stimulating hormone (TSH) concentrations, reduced pituitary thyrotropin-releasing hormone (TRH) receptor expression, decreased triiodothyronine concentrations and increased body mass
Late-flowering phenotype under long day (LD) conditions
The absence of CD3G results in a severe reduction in the level of the TCR-CD3 at the cell surface of thymocytes and peripheral T cells. The development of both the TCRalphabeta and TCRgammadelta lineages are affected by the absence of CD3G
Homozygous null mice embryos exhibit gross developmental abnormalities, beginning around 6.5 days of gestation, in the Reichert's membrane, an extraembryonic basement membrane. In peripheral nerves, ablation of DAG1 from 4 week-old mice causes abnormalities in nerve structure and function including mildly impaired sorting of axons, dysmyelination, axonal loss and aberrant nerve conduction. Laminin-binding is lost and there is disruption of the Schwann cell dystroglycan complex
Causes a severe growth defect in host erythrocytes (PubMed:30127496). Export of protein containing a PEXEL motif, including PIESP2, PTP3 and PTP2 is severely reduced at the ring and trophozoite stages (PubMed:30127496). Similarly, export of RESA is reduced at the schizont stage (PubMed:30127496)
Grows normally in liquid culture, traffics into host (human and mouse) acidified compartments early after phagocytosis, suggesting it no longer arrests phagosome maturation as well as wild-type, impaired growth in mouse macrophages (PubMed:20844580)
Abolishes the production of ergosterol and leads to abnormal cellular morphology (PubMed:18310029). Leads to susceptibility to cycloheximide and to staurosporine, but does not affect tolerance to nystatin and to amphotericin B (PubMed:18310029)
Male infertility (PubMed:24275887, PubMed:32393636). Testis appearance, size and weight are normal and there is no effect on sperm morphology or motility but there is a failure of sperm-egg interaction and fusion (PubMed:24275887, PubMed:32393636). Spermatozoa undergo normal acrosomal reaction and can penetrate the zona pellucida but accumulate in the perivitelline space as they are unable to fuse with the egg plasma membrane to complete fertilization (PubMed:24275887, PubMed:32393636). No effect on amount or localization of sperm-egg fusion protein IZUMO1 (PubMed:32393636)
Knockout mice display normal development and function of dendritic cells, on T- or B-cells development (PubMed:18384884). They display increased sensitivity to the induction of inflammatory and autoimmune reactions (PubMed:22157149). They produce litters of normal sizes at normal rates, implying that compensatory or redundant immunosuppressive mechanisms protected allogeneic fetuses during gestation in knockout mice. Knockout mice display cardiac and gastrointestinal liabilities (PubMed:22157149)
Dwarf plants with early flowering and inflorescences termination with floral structures in both long days and short days (PubMed:9611176). Phenotypes of the lhp1-3 mutant are enhanced by the disruption of EOL1, thus leading to reduced plant size, early flowering in all photoperiod conditions and altered leaf morphology, associated with an increased expression of H3K27me3-positive genes (PubMed:28428341)
Mice show severe necrotic damage of hepatocytes, strong portal inflammation, proliferation and destruction of the canalicular and small bile ductular tracts (PubMed:8106172). Display almost complete reduction of biliary phospholipid secretion, although bile salt secretion is normal (PubMed:8106172, PubMed:7814632, PubMed:8725158, PubMed:9366571). Show also reduced cholesterol secretion (PubMed:8106172, PubMed:9366571). Knockout mice lacking both ABCB4 and ATP8B1 show lower hepatic damage compared with the single ABCB4 knockout mice (PubMed:21820390). Display equivalent reduction of biliary phosphatidylcholine (PC) secretion as the single ABCB4 knockout mice (PubMed:21820390). Biliary cholesterol secretion is higher compared to the single ABCB4 knockout mice (PubMed:21820390). Bile salt secretion is normal in both single ABCB4 knockout mice and double ABCB4 and ATP8B1 knockout mice (PubMed:21820390). Biliary excretion of canalicular ectoenzymes, aminopeptidase N and alkaline phosphatase is strongly reduced compared to single ATP8B1 knockout mice (PubMed:21820390)
Cells accumulate erythromycin C and its precursor erythromycin D, with little or no production of erythromycin A or erythromycin B
Mutants are unable to switch the direction of flagellar rotation. Flagella rotate only clockwise, resulting in exclusively forward swimming cells that are unable to respond to tactic signals
Defects in root growth. No visible hypocotyl phenotypes. Increased sensitivity to the gibberellic acid (GA) biosynthesis inhibitor paclobutrazol (PAC) and auxin (IAA) that inhibit hypocotyl elongation (PubMed:23888064). Reduced leaf size due to impaired cell expansion associated with an enhanced expression of peroxidase (Prxs) genes. This phenotype is reversed by SHAM treatment, a peroxidase inhibitor. Increased accumulation of H(2)O(2) (PubMed:24806884). Delayed senescence. Enhanced auxin-responsive gene expression (PubMed:25920996)
Leads to reduced ability to infect tomato leaves or grape berries
RNAi-mediated knockdown results in 52 percent of animals arrested at the embryonic stage (PubMed:18369461). RNAi-mediated knockdown in larvae causes a severe decrease in brood size (PubMed:15194811). In 20 percent of animals, spermatheca dilatation is impaired causing oocyte retention in the gonad and persistent triggering of ovulatory contractions (PubMed:15194811). In L4 larvae, results in a shortened lifespan (PubMed:27184844). Prevents transcription factor hlh-30 nuclear translocation and increases lifespan in response to S.aureus infection (PubMed:27184844)
Cells lacking this gene lose the ability to grow on L-lactate as the sole source of carbon and energy, but can still utilize D-lactate
Decreased expression of downstream gene iraD (PubMed:28851853)
Impaired in biosynthesis of alpha-tocopherol
Initiates nodule formation in the alfalfa host plant much later than the wild-type and forms 90% fewer nodules. The nodules are almost devoid of bacteria and are unable to fix nitrogen
Spermatogenic failure and male infertility (PubMed:28502657). Spermatocytes show defects in the transition from prophase to metaphase of meiosis I due to impaired ribosome biogenesis in late prophase spermatocytes (PubMed:28502657)
Reduced seed mass
Disrupted localization of levamisole-sensitive nicotinic acetylcholine receptor subunits in 80% of mutants, and this is mostly in conjunction with the disrupted localization of the associated transmembrane protein lev-10 and secreted protein lev-9. This results in increased sensitivity to the acetylcholine agonist levamisole
No visible phenotype (PubMed:26842463). Smd1a and smd2b double mutants are embryo lethal (PubMed:26842463)
Embryonic lethality at lethality at 10.5 dpc (PubMed:9729047). Embryos display impaired heart muscle development and congested accumulation of erythrocytes (PubMed:9729047). Perinatal lethality observed in Ripk1 knockout mice is rescued in knockout mice lacking both Ripk1 and Casp8; mice however die the first days of postnatal life (PubMed:24813849). Only mice lacking Ripk1, Ripk3 and Casp8 survive past weaning and rescue lethality caused by the absence of Ripk1 (PubMed:24813849, PubMed:24813850)
Results in brownish conidial phenotype (PubMed:19703288, PubMed:26972005). Results in an altered conidial surface with masked surface rodlet layer, leaky cell wall allowing the deposition of proteins on the cell surface and exposing the otherwise-masked cell wall polysaccharides at the surface (PubMed:24818666)
Increases GCN4 level
RNAi-mediated knockdown increases lifespan, which is abolished on an mxl-2 or mml-1 mutant background, or by simultaneous RNAi-mediated knockdown of daf-16 or pha-4 (PubMed:24699255). RNAi-mediated knockdown causes delayed onset of polyglutamine-mediated paralysis (PubMed:24699255). RNAi-mediated knockdown reduces spore levels of the microsporidian pathogen N.parisii during infection, further reduced on an mxl-2 mutant background (PubMed:27402359)
Deletion mutant secretes neither Yops nor the ruler and needle subunits
No obvious effect on unicellular growth but induces a premature development arrest, with an inability to differentiate spores and to build a true stalk indicative of a major defect in differentiation and morphogenesis. The abortive structure contains a mixture of undifferentiated cells and vacuolated stalk-like cells. Differing results include abnormal development only at very low extracellular Ca(2+) conditions (below 10 nM) (PubMed:15276209) or at alkaline pH (pH 9) (PubMed:15757670)
Delay in the timing of the reproductive peak of egg-laying
No visible phenotype in terms of overall growth, salt sensitivity and flowering time. Early flowering time and salt sensitivity in ulp1d/ots1 and ulp1c/ots2 double mutants
Mutant fishes show a loss of peroxisomal structure, associated with high-mortality (PubMed:34016526). Defects are similar to human Zellweger syndrome (ZS), characterized by developmental abnormalities in many organs, organ-specific accumulation and reduction of distinct fatty acid species, such as an accumulation of ultra-very-long-chain polyunsaturated fatty acids (ultra-VLC-PUFAs) (PubMed:34016526)
Not affected by disruption of tphA2I, however the tphA2I/tphA2II double mutant no longer grows on TPA
Leads to the loss of T-Toxin production, resulting in low virulence for maize (PubMed:8953776, PubMed:12236595)
No visible phenotype. Mice show an enhancement of postsynaptic long-term potentiation (LTP) responses in the CA2 neurons of the hippocampus that is correlated with an increase of spatial learning and object recognition memory (OMR)
Reduced plant size with small and curly leaves (PubMed:30628082). Reduced growth rate of pollen tubes and reduced number of seeds (PubMed:30628082). No visible phenotype under normal growth conditions, but the double mutants dgk2 and dgk4 exhibit defective pollen growth and seed development because of non-viable male gametophyte (PubMed:32471859)
RNAi-mediated knockdown is embryonic lethal (PubMed:12827206). In germline cells, aberrant segregation of chromosomes is observed during both mitosis and meiosis, resulting in aneuploidy (PubMed:12827206). There is a weaker mitosis phenotype in somatic tissues (PubMed:12827206). Weak seam cell differentiation capacity during the L4 larval development stage, including 30% increased seam cell fusion and reduced cell cycle exit (PubMed:15691769). RNAi-mediated knockdown increases the survival rate and partially restores alae formation of let-7 n2853 mutants at 20 dgrees Celsius (PubMed:15691769)
RNAi-mediated knockdown causes an increase in lifespan of about 60 percent compared to wild type but only when done at an early larval stage. Lifespan increase is associated with a decrease in the accumulation of the age pigment lipofuscin, a delayed age-onset nuclear membrane disintegration in muscles and loss of mobility. In addition, causes an increase in lipid catabolism resulting in fewer fat droplets in intestinal cells and hypodermis and lower triglycerides levels. Transcriptional up-regulation of genes involved in fatty acid degradation and in xenobiotic detoxification and decrease in cellular oxygen reactive species (ROS) production. Low brood size, longer reproductive span, increased autophagosome formation in seam cells and smaller body size. Normal pharyngeal pumping and feeding rate. RNAi-mediated knockdown in muscles or hypodermis causes a moderate increase in lifespan
Leads to reduced virulence and produces significantly smaller lesions and fewer spikelets with blight symptoms on susceptible wheat cultivars
Produces only fumonisins B3 and B4 (PubMed:14602658, PubMed:16536629)
Shortening and loss of cilia in several organs, including the Kupffer's vesicle and olfactory placode
Cells lacking this gene show decreased growth at 85 and 93 degrees Celsius. The growth rate is slightly restored at 85 degrees Celsius by the addition of spermidine, however growth at 93 degrees Celsius is not restored even when spermidine is added. This mutant accumulates agmatine at 85 degrees Celsius
Viable and fertile with a reduced brood size (PubMed:15044551, PubMed:19343207). Locomotion is slightly slower and the expulsion step of the defecation cycle is often missing (PubMed:15044551). In males, impaired mating turning behavior characterized by abnormal repetitive turning during the first turn (PubMed:17611271). 50 percent reduction in dense-core vesicles in ventral cord neurons (PubMed:19343207). Paralysis induced by acetylcholinesterase inhibitor aldicarb is reduced in 50 percent of mutants (PubMed:15044551). Resistant to aldicarb-induced reduction in brood size (PubMed:19343207). In a unc-64 (e246) mutant background increases dauer formation whereas in a unc-31 (e169) abolishes dauer formation (PubMed:15044551). In a daf-2 (e1370) or daf-28 (sa191) mutant background increases dauer formation (PubMed:15044551). In a nid-1 (cg119) mutant background, abnormal cross-over of the AVG neuron axon during the formation of the right axon tract of the ventral nerve cord (PubMed:27116976)
Mutants arrest during the larval developmental stage. Impaired mitochondrial homeostasis with the up-regulation of the mitochondrial unfolded protein chaperone hsp-6. RNAi-mediated knockdown results in embryonic lethality or larval lethality between the L1 and L3 stage of larval development. Surviving progeny are growth retarded. No localization of the mitochondrial targeted protein nnt-1 to the mitochondria of intestinal cells
Early developmental arrest
No visible phenotype in normal physiological conditions (PubMed:33506343). Increased proliferation of bone marrow mesenchymal stem cells (BMSCs), impaired BMSCs migration and differentiation potentials of lineages of cardiacmyocyte and smooth muscle cell (PubMed:33506343). Conditional deletion in adult mice improves the survival from radiation-induced hematopoietic failure and thymic lymphoma (PubMed:31794893, PubMed:32259569). Extends survival from radiation-induced thymic lymphoma is likely due to slower tumor enlargement in the thymus (PubMed:31794893)
(Microbial infection) Not observable resistance to Plum pox virus (PPV) strain D
Loss of sensitivity to toxin CdiA-CT
Insensitive to RNAi-mediated gene silencing
March8-deficient mice are less susceptible than WT mice to herpesvirus infection
Does not appear to exhibit a phenotype related to osmoregulation perhaps due to functional redundancy with rhgB
Leads to aberrant leukocyte development
RNAi-mediated knockdown females lay fewer eggs and display a reduced hatch rate when mated to wild-type males (PubMed:24395329). Wild-type females mated to males that undergo RNAi-mediated knockdown, lay the same number of eggs and have a similar hatch rate to those mated to wild-type males (PubMed:24395329). RNAi-mediated knockdown in the dorsal paired medial neurons impairs middle-term (MTM) and long-term memory (LTM), but has no effect on normal aversion learning and anesthesia-resistant memory (ARM) (PubMed:27629706). RNAi-mediated knockdown in all mushroom body neurons has no effect on learning, ARM and LTM (PubMed:27629706). However, simultaneous knockdown with Nep3 does impair LTM, and simultaneous knockdown with both Nep2 and Nep3 results in a further reduction in LTM formation (PubMed:27629706). However, simultaneous knockdown with only Nep2 has no effect on LTM formation (PubMed:27629706). RNAi-mediated knockdown in somatic muscles is pupal lethal (PubMed:22583317, PubMed:27919317). Muscles of second instar larvae display signs of necrotic degeneration, and undergo fewer and weaker contractions leading to a reduction in their crawling speed (PubMed:22583317). Also displays reduced food intake after 10 minutes (47% of control intake) and 20 minutes of feeding (72% of control intake), but not after 40 minutes (PubMed:27919317). Displays an 82% reduction in expression of insulin-like peptide 4 (PubMed:27919317)
Cells lacking this gene are microaerophilic and hypersensitive to oxidative stress. Moreover, they show impaired Fe-S cluster-dependent enzyme activity
Mutants have no detectable phenotype under standard laboratory conditions. They are more resistant to trimethoprim than wild-type cells
Auxin-induced degradation of the protein causes no obvious phenotype in germ cells and early embryos
Cells accumulate precursors and mature forms of 23S rRNA with alternative 5' and 3' ends. Defects are more marked during exponential growth
Severe dendrite growth defects in class IV da neurons which normally have large dendrite arbors, moderate defects in class III neurons which normally have medium-sized dendrite arbors and no effect in class I or III neurons which normally have small dendrite arbors (PubMed:26063572). Induction of starvation response and altered protein homeostasis in class III and IV neurons (PubMed:26063572). Severe defects in axon growth with mutants showing no defects 48 hours after egg laying (AEL) but severe defects apparent by 120 hours AEL (PubMed:26735916)
Increases male fertility but overall population fitness is decreased (PubMed:34282725). Males develop significantly more spermatocyte cysts with actin cones per testis, suggesting that sperm production is accelerated (PubMed:34282725). No effect on female fertility at 25 degrees Celsius (PubMed:34282725). However at 29 degrees Celsius (heat stress conditions), embryos lacking either maternal and/or zygotic Arp53D activity display gross nuclear abnormalities and nuclei appear disorganized and uncompacted (PubMed:34282725). As a result females produce fewer progeny that reach the adult stage (PubMed:34282725). No effect on number of eggs laid or the percent of fertilized eggs (PubMed:34282725)
Cells are unable to undergo chemotaxis properly during aggregation in response to the chemoattractant cAMP or activate guanylyl cyclase. Form extremely small aggregates resulting in the development of slugs and terminal fruiting bodies that are significantly smaller than those of wild-type cells. Transfer of the temperature-sensitive mutants from a temperature of 18 degrees Celsius to 27 degrees Celsius causes forming aggregates to split into multiple small aggregates
Mutant mice have normal testicular morphology and spermatogenesis but have moderately impaired motility and increased levels of ROPN1 (PubMed:23303679). Double knockout animals for ROPN1 and ROPN1L are infertile with normal testicular morphology and spermatogenesis but defects in sperm morphology, thinning and shredding of the principal piece. Sperm is immotile (PubMed:23303679)
100-fold reduction in cytopathic effects in human monocyte-derived macrophages, loss of polymerization of G- to F-actin in macrophages
Cells lacking this gene do not show any ODH activity, in contrast to wild-type, demonstrating that this protein is part of a functional ODH complex in mycobacteria
Morpholino knockdown of the protein results in loss of cilia-driven fluid flow along the anterior-posterior axis. Multiciliated cells show loss of coordinated cilium polarity with many cilia pointing towards the anterior instead of the posterior. The planar cell polarity (PCP) component prickle2 is uniformly distributed around the cell margin, instead of being asymmetrically localized to the posterior of the cell
No visible phenotype under normal growth conditions, but the double mutant plants lli3:1 and lli3:2 are dwarf with yellowish green leaves
Reduced lignin content, and modified lignin of reddish-brown color
Attenuated parasites that cannot commit to infection, even when they encounter with hepatocytes, resulting in continuous traversal of hepatocytes
Cells lacking brp gene display a 4-fold decrease in bacteriorhodopsin levels compared with wild-type, whereas bacterioopsin levels are normal. Moreover, the beta-carotene level is increased by 3.8-fold, whereas that of retinal is decreased by 3.7-fold. Deletion of both brp and blh completely abolishes bacteriorhodopsin and retinal production, again without affecting bacterioopsin accumulation, and the level of beta-carotene is increased by 5.3-fold
Mutants for Long isoform or Short isoform exhibit similar functional capabilities
Worms arrest their elongation at the 1.25X to 1.5X stage
Accumulation of the precursor pentalenolactone F and lack of production of pentalenolactone
Impairs the production of asparasone A and causess the formation of greyish-yellow sclerotia rather than the dark brown sclerotia normally produced (PubMed:24405210, PubMed:24412484). Leads to a significant decrease of resistance to insect predation and increased susceptibility to the deleterious effects of ultraviolet light and heat (PubMed:24412484)
Deletion mutant exhibits deficiency in biofilm formation and motility
Deletion mutant does not exhibit an obvious phenotype and produces sulfide and acetate in amounts comparable to those produced by the parent strain
Absence of auditory brain stem response (ABR) to click stimuli demonstrates that the mice are profoundly deaf. Normal hair bundle morphology as at postnatal day (P) 5 the sensory epithelia are patterned into three rows of outer hair cells (OHCs) and one row of inner hair cells (IHCs). The bundles of OHCs appear similar in size to those of wild-type mice and form a normal staircase pattern. Hair cells are maintained in the presence of gentamicin, an aminoglycoside antibiotic that enters hair cells through their transduction channels and normally causes hair cell death. No difference in the expression or localization of tip link proteins CDH23 and PCDH15 or ATP2B2, MYO7A, ESPN and WHRN proteins at P5-P8 in hair bundles of hair cells. Normal localization of LHFPL5 and TMIE in OHCs, but TMC1 and TMC2 are absent from the hair bundles of OHCs
Severe defects during embryogenesis, producing abnormal embryos and thereby leading to a lethality of young seedlings
Shrunken seed endosperm due to a strong reduction in starch synthesis
Conditional knockout mice lacking Mcur1 in cardiomyocytes and endothelial cells are viable and are born at the expected Mendelian. They however show impaired mitochondrial calcium uptake and mitochondrial calcium uniporter (MCU) current
Results in white conidia
Severely compromised the virulence of M.oryzae on rice and barley
RNAi-mediated knockdown causes resistance to 5-fluorouracil (5-FU)-mediated toxicity
Serrated leaf and reduced plant size. Constitutive expression of the defense-related gene PR1 and enhanced resistance to the bacterial pathogen Pseudomonas syringae pv tomato strain DC3000
Abolishes the production of hydroxycyclochlorotine
Developmental defects due to abnormal miRNAs and siRNAs biogenesis including serrated, sickle-like leaf margin, reduced height, delayed flowering, and abnormal inflorescence phyllotaxy. Hypersensitivity to chilling and salt stresses (PubMed:23071326). Several symptoms associated with alteration in auxin (IAA) signaling such as increased IAA levels in shoot apices and reduced IAA accumulation in root meristems, reduced apical dominance and abnormal root gravitropism, growth and emergence. Altered PIN polarity and endocytosis in specific cells (PubMed:26888284)
No visible phenotype, but presence of extra root protoxylem cell files
Cells lacking this gene fail to grow on the nucleobase uracil as the sole nitrogen source but use the nucleoside uridine normally
RNAi-mediated knockdown results in impaired mobility, mitochondrial fragmentation and disrupted integrin attachment complexes in muscle. This leads to degradation of muscle proteins in the cytosol, myofibrillar defects and disruption of sarcomere organization
Abolished Gram-negative bacteria-mediated promotion of root elongation triggered by the N-acyl-homoserine lactones (AHLs) N-3-oxo-hexanoyl-homoserine lactone (3OC6-HSL) and N-3-oxo-octanoyl-homoserine lactone (3OC8-HSL)
Subtle developmental changes including slow development of young seedlings, an increased sensitivity to fluctuating culture conditions, and slightly delayed flowering time (PubMed:16328792). High light induces rapidly chlorosis in leaves (PubMed:16328792)
Endosperm development arrested at one-cell zygotic stage (PubMed:15634699). Increased resistance to auxin (e.g. IAA and NPA) and osmotic stress (e.g. mannitol) (PubMed:21431781)
Does not affect the production of viriditoxin but leads to a sporulation defect
Inactivation of the gene results in elevated ingestion and reduced cytotoxicity of eukaryotic cells during P.aeruginosa infection
Displays severe developmental defects as well as a strong phagocytosis defect
Accumulates autovertin E but does not produce its acetylated form aurovertin A (PubMed:26340065)
A disruption of this gene is no longer virulent in mouse infection. 20-fold reduction in cytopathic effects in human monocyte-derived macrophages, loss of actin depolymerization in macrophages
In T-cell-specific knockout mice, loss of mature Il17a-producing Vgamma2-positive gamma-delta T-cells and reduction of Rorc expression in immature Vgamma2-positive thymocytes (PubMed:23562159). In a mouse model for psoriasis, dermal inflammation induced by skin application of TLR7 synthetic ligand imiquimod is substantially reduced due to the absence of Vgamma2-positive gamma-delta T-cells (PubMed:23562159)
Deletion of the gene has a negative impact in the utilization of polygalacturonan and rhamnogalacturonan type I
Null mutants show the remarkable ability to engulf multiple particles simultaneously, also positively respond to a cAMP gradient but form spurious peudopods which are normally suppressed to promote efficient movement up a chemical gradient
Altered response to auxin. Blocked ability of TAC1 to induce telomerase. Hypersensitive response to both sugar and abscisic acid (ABA)-mediated inhibition of germination
Mutant mice are viable and show no conspicuous phenotype. They have normal platelet counts and only slightly reduced proplatelet formation. Resting platelets tend to have a more spherical shape. Many platelets exhibit disorders in microtubule filament numbers and localization. The animals show a markedly prolonged bleeding time. Granule release is also reduced
Flies have a reduced lifespan and exhibit multiple behavioral defects: flight and locomotion are severely affected and they spend more time grooming (PubMed:27919077, PubMed:27919081, PubMed:28675155). They also display a mild held-out wing appearance resulting from failure to fold their wings together over the dorsal surface of the thorax and abdomen (PubMed:27919077, PubMed:28675155). RNAi-mediated knockdown results in semi lethality and reduced fertility due to the presence of compound egg chambers with supernumerary nurse cells in the ovaries (PubMed:21873203)
Death at the blastocyst stage due to mitotic defects and failure of cell proliferation
Disruption of this gene results in a strong reduction of bacterial growth, and increased antibiotic sensitivity to penicillin, cephalosporins (e.g. ceftazidime), and vancomycin in vitro. Cells lacking this gene are highly attenuated in virulence, and demonstrate an elongated shape and very few division septa separating the daughter cells. The lack of StkP does not disturb FtsZ ring formation and does not affect the expression level and the phosphorylation status of FtsZ
Produces high level of alkaline phosphatase (AP) when grown with excess phosphate (PubMed:1459954). No effect on phosphate uptake, but particular deletion mutants have a severe growth defect, which is largely alleviated by a compensatory mutation in the pstSCAB genes or in the phoRB operon (PubMed:8226621). Accumulates high levels of polyP, approximately 400 nmol of phosphate residues/mg of protein (PubMed:12147514). Higher susceptibility to a diverse range of antibiotics including ampicillin, norfloxacin and gentamicin, and stresses such as starvation, acid pH, heat, peroxide, weak acids and energy inhibitors, especially in stationary phase (PubMed:17420206). Metabolically hyperactive status of the cell showing increased expression of energy production genes, flagella and chemotaxis genes, and a defect in persister formation (PubMed:17420206). Cells transport phosphate via PstSCAB transporter system at approximately 20% higher rate and accumulate higher levels of the transporter and about 50% more phosphate in 12 minutes than wild-type cells in phosphate-replete medium (PubMed:19047379)
No visible phenotype (PubMed:12220263). Pale-green seedlings in double mutants glk1/glk2 (PubMed:23459204)
Accumulation of fat, pigmented intestine, increased lifespan, increased dauer formation and increased resistance to pathogens. Severe loss of function mutants display recessive early embryonic lethality (PubMed:9252323, PubMed:9790527, PubMed:11274053, PubMed:18782349, PubMed:18245374). RNAi-mediated knockdown in germline, hypodermis, intestine or in muscles causes increased lifespan (PubMed:24332851, PubMed:28853436). RNAi-mediated knockdown in a ncl-1 mutant (e1942) background reduces the increased longevity of the daf-2 single mutant, and reduces the increased ribosomal protein synthesis in the ncl-1 single mutant (e1942) (PubMed:28853436). RNAi-mediated knockdown in adults causes an increase in lgg-1 positive autophagic vesicles (PubMed:22560223). RNAi-mediated knockdown results in an increase in the number of muscle arm extensions (PubMed:18436204). RNAi-mediated knockdown together with tatn-1 RNAi extends the lifespan of the single daf-2 RNAi mutant (PubMed:24385923)
Results in both reduced growth on complex media and reduced levels of trichothecene production (PubMed:10485289)
Not required for aerobic growth on ethanolamine (EA) supplemented with cobalamin (vitamin B12) (PubMed:10464203, PubMed:16291677). A non-polar deletion mutant grows on EA from pH 5.5 to pH 8.0, but does not grow at pH 8.5, releases increased amounts of acetaldehyde on EA plus vitamin B12 (PubMed:16585748)
No visible phenotype. Serk1 and serk2 double mutants are completely male sterile due to a failure in tapetum specification
Non-essential gene, no formation of inactive 100S ribosomes. Double hpf-yfiA deletion mutants form 90S ribosomes (PubMed:16324148). A quadruple yfiA-hpf-rmf-sra knockout strain is significantly outcompeted by wild-type after 4 days growth (PubMed:17277072). No change in sensitivity to aminoglycoside antiobiotic gentamicin in stationary phase cultures (PubMed:26324267)
Mutant mice are born at the expected Mendelian rate. Their livers display strongly reduced levels of heparan sulfate proteoglycan. DCN glycosylation is altered and lacks chondroitin sulfate groups. After 3 to 5 months, all mutant mice display increased liver weight. At an age of 4 to 5 months, about half of them delevop liver cysts, due to biliary epithelial cell hyperplasia. At an age of 3 and 10 months, mutant mice also display increased kidney weight due to hydronephrosis and impaired renal function, but they do not develop cysts
CXCL10-deficient mice possess a significantly reduced or delayed infiltration of NK and HSV-1-specific CD8+ T cells into herpes virus-infected tissue. In consequence, the antiviral response is delayed
Increased resistance to fluoxetine-induced nose muscle contraction. Slow development, embryonic lethality and defective yolk transport to the oocytes leading to accumulation of yolk granules in the pseudocoelomic fluid and appearance of pale eggs. Reduced level of sensitivity to dihomo-gamma-linolenic acid-induced sterility
Reduces secondary metabolite production, including sterigmatocystin, a carcinogen biochemically related to the agricultural contaminant aflatoxin. Results in constitutive sexual differentiation (PubMed:21152013). Impairs defense response against D.melanogaster larval grazing (PubMed:24023705)
Reduced electrophysiological response to pheromone mixtures in the vomeronasal organ. Mutant males and nursing females are docile and fail to initiate aggressive attacks on intruder males. Males display normal mating behavior towards females but display increased sexual behavior towards prepubescent females even when presented simultaneously with adult estrus females and also show increased sexual behavior towards juvenile and adult males. Lack of response to Esp1
Loss of DIMBOA biosynthesis
Dwarf and reduced fertility
The lack of Cd8b reduces but does not completely abolish thymic maturation of CD8+ T-cells. However, Cd8-depleted mice mount normal primary cytotoxic CD8 responses upon acute viral infections
No visible phenotype under normal growth conditions, but the quadruple d6pk, d6pkl1, d6pkl2 and d6pkl3 mutants are deficient in lateral root formation and mildly agravitropic, have fused or single cotyledons and narrow and twisted leaves, form few axillary shoots, exhibits basal shift in root hairs positioning, are almost infertile and impaired in phototropic hypocotyl bending when exposed to lateral white light
No visible phenotype when grown under normal conditions. Hypersensitivity to ionising radiation (IR) and to DNA-damaging agents. Longer telomeres. Defective in T-DNA integration
Plants are viable with no apparent deleterious phenotype
Root hair phenotype, characterized by short root hairs with bubble-like extrusions at the tip
No effect on expression of the hyf operon
The genome contains reduced level of DNA base J in the DNA. Cells lacking both JBP1 and JBP2 show a complete absence of base J
Mutant mice are susceptible to H. polygyrus and N. brasiliensis infection, failing to expel larvae and retaining a sustained infection (PubMed:29024642). In response to high fat diet, mutant mice are resistant to hyperlipidemia associated with reduced hepatic very low density lipoprotein production and increased triglyceride-rich lipoprotein clearance (PubMed:21908646)
No visible phenotype, due to the redundancy with HAM2. Ham1 and ham2 double mutants are lethal
The preference to lipids such linoleic acid is fully abolished in mutant mice as well as the induction of both flux and protein content of pancreatobiliary secretions (PubMed:21901153, PubMed:16276419). Animals with a double knockout of APOE and CD36, fed a Western diet for 12 weeks, exhibit much lower levels of CXCL1, CXCL2 and CCL5 cytokine mRNA expression in the descending aorta and a corresponding decrease in atherosclerotic lesion formation, compared to APOE single knockout mice. Enterocytes from proximal small intestine exhibit reduced uptake of fatty acid and cholesterol. They also show reduced fatty acid incorporation into triglycerides and triglyceride secretion (PubMed:17507371). After oral fat loading, animals have lipoproteins smaller than chylomicron in size in plasma and intestinal lymph (PubMed:18753675). Fewer apoptotic cells and reduced levels of active caspase 3 in glomeruli
Exhibits lumenal vesicles within vacuoles suggestive of vacuole fusion/fission defects. Leads to internal accumulation of precursor CPY
Embryo defective (PubMed:24964212, PubMed:21139083). Impaired plastid biogenesis and thylakoid differentiation in embryo. Defects in the photosystem II protein complex formation (PubMed:24964212)
ALA and SIA axons exhibit outgrowth abnormalities, failing to run along the lateral cord to the tail (PubMed:10887091). ALA axons are shortened further in a vab-8 mutant background (PubMed:10887091). Drastically reduced expression of let-23/EGFR and plc-3/PLCgamma in ALA neurons (PubMed:20501595). RNAi-mediated knockdown causes severe defects in the ALA neuron in young adults (PubMed:20501595)
Reduced growth of leaves, petioles, stems and siliques. Delayed flowering
RNAi-mediated knockdown results in multipolar Class I dendritic arborizing neurons forming a bipolar morphology (PubMed:26490864). Dendritic arborization is unaffected (PubMed:26490864)
Embryonic lethal. RNAi-mediated knockdown in tracheal terminal cells results in cystic dilations and discontinuities of the apical membrane; terminal cells are severely pruned with terminal branches largely devoid of lumenal membrane, except for isolated inclusions
Disruption of the gene prevents development of hydrogenase 3 activity, does not influence the level of hydrogenase 1 and leads to a considerable increase in hydrogenase 2 activity (PubMed:1482271). HypA-hybF double mutant is completely blocked in maturation of hydrogenases 1, 2 and 3. However, the inclusion of high nickel concentrations in the medium can restore limited activity of all three hydrogenases (PubMed:12081959)
Reduced expression levels of aleurone-related genes (e.g. CP1, CP, GASA1, BXL1 and BXL2) in seeds. The triple mutant myb33 myb65 myb101 has a male sterility and exhibits slower protein storage vacuoles (PSVs) vacuolation rate in aleurone layers upon seed germination (PubMed:20699403). The myb33 myb65 double mutant is defective in anther development, with a tapetum undergoing hypertrophy at the pollen mother cell stage, resulting in premeiotic abortion of pollen development and male sterility. This sterility is conditional, fertility being increased both under higher light or lower temperature conditions (PubMed:15722475)
Deletion mice show impaired tissue repairing. In addition, more infiltration of inflammatory cells was found in deletion mice compared with control mice
Severe defects of trunk and tail development
No visible phenotype. Drm1 and drmh1 double mutants have no visible phenotype
Cells lacking this gene grow as well as the wild-type parent strain on SD medium, but fail to grow on hydroxyaspartate-containing agar plate
Severely reduces cell growth in response to misfolded protein, translation inhibition-induced, heat or mitochondrial oxidative stresses but not in response to ER stress (PubMed:16427015, PubMed:18508771, PubMed:16428438, PubMed:27044889)
RNAi-mediated knockdown in the posterior compartment of the wing disk, results in adult wings that are reduced in size, display abnormally thin veins and form blisters in the posterior part of the wing (PubMed:33479178). Defects are mainly due to activation of the JNK signaling pathway leading to increased apoptosis in the developing wing (PubMed:33479178). RNAi-mediated knockdown in the dorsoventral (DV) boundary and anterior-posterior (AP) boundary regions of the wing disk, induces notching along the adult wing margin and a reduction in the AP boundary region between the L3 and L4 veins (PubMed:33479178). RNAi-mediated knockdown in the adult thorax causes defects in the abdominal segments (PubMed:33479178). RNAi-mediated knockdown in the adult eyes induces ectopic tissue growth and reduced eye size (PubMed:33479178). RNAi-mediated knockdown in embryos, results in various abnormal mitotic patterns, such as defective chromosome alignments, short spindles and a loss of chromosomes (PubMed:33479178)
Leads to the production of a mixture of ferriaspergillin analogs with varying combinations of aspergillic acid and hydroxyaspergillic acid (PubMed:29674152)
Reduced growth and unable to flower under short day conditions. Retarded growth, bushy rosettes, development of multiple apical meristems and unable to flower under long day conditions
RNAi-mediated knockdown causes a defect in pachytene progression resulting in a proximal gonad devoid of nuclei. The phenotype is more severe in gck-1 km15 mutant background (PubMed:19826475). RNAi-mediated knockdown in adults decreases lifespan (PubMed:20624915)
Accelerated senescence and short siliques with reduced seed number
Cells lacking this gene accumulate higher levels of glutarate than wild-type during carbon starvation and entry into the stationary phase
When associated with disruption in NAC018/NARS2, abnormally shaped seeds, defect in embryogenesis sometimes arrested at the torpedo-shaped embryo stage thus leading to partial embryonic lethality, markedly delayed integuments degeneration, and delay of silique senescence
Morpholino knockdown does not affect embryo morphology up to gastrulation but causes a delay in the closure of the neural tube (PubMed:30948426). After the neural tube closes, embryos display mild axis curvature and head defects at later stages and malformations are also evident in the embryonic brain which forms a closed structure but displays an enlargement of the ventricles (PubMed:30948426). Embryos show impaired apical constriction of neuroepithelial cells during neurulation (PubMed:30948426)
Abolishes pneumocandin A0 production, and 3S-hydroxyl-L-proline occupies the hexapeptide core's position 6, resulting in exclusive production of pneumocandin B0 (PubMed:25527531)
No obvious phenotype. Ultrastructural analyses reveal disruption of ciliary microtubule load and organization, although various aspects of gross cilium length, function and transport are mostly normal
RNAi-mediated knockdown either results in sterility or a reduced brood size (PubMed:23843623). RNAi-mediated knockdown disrupts the arrangement, differentiation and maturation of oocytes in the proximal region and as a result small oocyte-like cells arrange in several rows in the germline (PubMed:23843623). RNAi-mediated knockdown reduces miRNA-mediated deadenylation (PubMed:28204614). RNAi-mediated knockdown reduces ccr-4 and ntl-1 protein levels (PubMed:28204614). In another study, RNAi-mediated knockdown does not alter the levels of let-711 or ccr-4 (PubMed:23843623). RNAi-mediated knockdown results in reduced global poly(A) tail deadenylation (PubMed:23843623)
Cells show down-regulated expression of both virB operon and flagellar genes either during culture in bacteriological medium or during intracellular infection. They also show no flgE or fliC production between the end of the latent phase of growth and the beginning of the exponential phase. The vjbR mutant is also strongly attenuated in a mouse model of infection, probably because it is defective in intracellular survival. When cultures reach high density, cells aggregate and form clumps. The mutant is able to produce EPS containing alpha-mannopyranosyl and/or alpha-glucopyranosyl residues as well as a beta-linked glucan that seem to be a component of the extracellular matrix of the aggregates
Mice exhibit growth retardation, reduced life span, ataxic gait with apoptosis of cerebellar granule cells followed by Purkinje cell depletion, enhanced susceptibility to seizures, and cardiac abnormalities
Mutant is impaired in stationary-phase survival in low-Mg(2+) medium and shows decreased resistance to different structural classes of CAMPs compared to the wild type. Mutations reduce both the numbers of bacteria recovered during intracellular infection and their cytopathic capacity for U937 macrophages. The mutant is also more defective for lung colonization of A/J mice
100-fold increased sensitivity to acrylate, about 8-fold increased sensitivity to 3-hydroxypropionate. Acrylate is bacteriostatic, not bacteriocidal. Can be complemented by acuI from a number of other bacteria, including Rhodobacter sphaeroides strain 2.4.1 (AC Q3J6K9) and Ruegeria pomeyroi (AC Q5LS56)
No visible phenotype under normal growth conditions, but the frequency of mutant seedlings to establish into plantlets with true leaves is decreased under short day conditions
Mutant grows slower and cells are longer compared to the wild-type strain. Mutation has a relatively mild effect on the sporulation. Mutant is sensitive to reduced FtsZ concentrations. Deletion of the gene in a zapA mutant background results in very filamentous cells that are blocked in proper Z-ring formation (PubMed:24097947). Mutant shows increased internucleoid distances (PubMed:29378890)
Long hypocotyl phenotype
Mutant animals die during gestation. Premature death starts around 10.5 dpc. Severe morphological abnormalities, such as enlarged tailbud, kinked neural tube posterior to forelimb buds and reduced tissue mass in the interlimb domain become obvious at 9.0 dpc and thereafter. Head and anterior body structures, including the developing heart, appeared normal. In the trunk posterior to the forelimbs, there are no identifiable somites or segment patterning, although the anterior-most somites appeared normal, with decreases in somite size and disruption of myotomal patterning in somites 8-11. There are no detectable somites beyond somite 11. At 11.5 dpc, myotomes are absent from the trunk at the interlimb level and at 12.5 dpc, muscle is absent from the hindlimbs. The few fetuses surviving beyond 14.5 and 17.5 pdc lack a tail and show a grossly normal, but very thin body with relatively normal forelimbs and hindlimbs. At this stage, all vertebrae posterior to cervical level together with ribs are absent, while all cervical vertebrae are present, although the most posterior ones are sometimes malformed and fused. Other trunk skeletal structures that originate from lateral mesoderm, such as the sternum and scapula, form quite normally
No visible phenotype under normal growth conditions, but mutant plants show diminished biomass production under low carbon and energy conditions
Eggs have a thin shell
Enhances histone H3K9 acetylation on transposable elements and promoters of hypersensitive response (HR)-related genes. This leads to increased HR-related gene expression, hydrogen peroxide production, DNA fragmentation, and programmed cell death
Has impaired gliding motility, glides at a slower speed and with longer resting periods than wild-type. Binds equally well to erythrocytes and a human lung adenocarcinoma cell line, but colonizes mucin-producing cells less well than wild-type cells
RNAi-mediated knockdown in a rrf-3 RNAi hypersensitive mutant background leads to decreased expression of srh-234 in the cell body of ADL sensory neurons (PubMed:27487365)
Reduced sensitivity to high salinity. In plants lacking SWEET11, SWEET12 and SWEET15, severe seed defects, which include retarded embryo development, reduced seed weight, and reduced starch and lipid content, causing a wrinkled seed phenotype. Altered sucrose efflux involved in the transfer of sugars from seed coat to embryos thus leading to starch accumulation in the seed coat but not in the embryo (PubMed:25794936)
Mutants are defective in potassium accumulation at high pH and lack KtrII activity. Disruption does not affect Na(+)-ATPase activity
Cells lacking this gene are highly susceptible to fosfomycin, accumulate large amounts of MurNAc 6-phosphate, and show lower levels of UDP-MurNAc and UDP-GlcNAc than wild-type cells
Disruption confers resistance to cellular contact-dependent growth inhibition (CDI) CdiA of P.luminescens strain TTO1, but not to several other tested CdiA toxins
Embryonic nervous system defects characterized by cell misplacement and errors in axonal extension and targeting (PubMed:27422099). Neurons display defective axonal extension (PubMed:27422099). Defects are probably caused by impaired microtubule organization and integrity (PubMed:27422099). During larval neuromuscular junction (NMJ) synaptic development, larvae show reduced synaptic growth and transmission (PubMed:31156389). Flies lacking both Ringer and Futsch display a significant reduction in microtubule loops at the neuromuscular junctions (NMJ) and reduced acetylated-tubulin levels (PubMed:31156389)
Increases time to progress through G2/M phase
Mice display a significant reduction in whole brain volume, with a particular decrease in white matter (PubMed:31363758). Neurons show decreased, but not abolished, tubulin detyrosination, leading to an accumulation of tyrosinated tubulin. This causes delayed axonal differentiation and morphologically disturbed dendritic branching (PubMed:31363758). Mice show behavioral abnormalities, including increased activity and reduced social investigation (PubMed:31363758). Mice lacking both Matcap and Svbp are viable but show a reduction in brain volume: microcephaly is associated with proliferative defects during neurogenesis and abnormal behavior (PubMed:35482892). Cells lacking both Matcap and Svbp show abolished tubulin detyrosination (PubMed:35482892)
Defective arginine methyltransferase activity with reduced symmetric dimethylation of targets (PubMed:28158808). Increased sensitivity to heat and oxidative stress (PubMed:28158808). Increased germ cell apoptosis following treatment with ionizing radiation (IR) or ethylnitrosourea and significantly enhanced IR-induced egl-1 levels (PubMed:19521535). Double knockout with prmt-1 results in prolonged larval development, shorter body size, reduced brood size, decreased egg-laying and 30% of eggs fail to hatch (PubMed:28158808). Double knockout also results in reduced asymmetric and symmetric arginine dimethylation of proteins (PubMed:28158808)
Plants are not affected in seed germination, but show a restricted greening rate after germination and increase the drought resistance
Females display reduced fertility as well as defective eggshell development (PubMed:16260500). Ovarian follicle cell microvilli are abnormally shaped and display a range of defects including decreased length, reduced number and an irregular distribution pattern, leading to impaired vitelline membrane formation (PubMed:16260500, PubMed:16507588). In the intestines of 3-day old adults there is no formation of endosomes and consequently no DUOX-dependent up-regulation of reactive oxygen species (ROS) in response to the ingestion of bacteria-derived uracil (PubMed:25639794). Embryos display irregular cell rearrangements during salivary gland development with fewer cells surrounding the salivary gland lumens and lumens appear to be elongated (PubMed:24718992)
Mutant embryos show an epithelial and anterior and posterior neural tube defects leading to death at around 11.5 dpc (PubMed:20654612, PubMed:20978075). They exhibit a fully penetrant split-face malformation, associated with cranioschisis. Closure of the remainder of the neural tube ocrurred normally with the exception of the posterior neuropore. The dorso-lateral hinge points fail to form and closure do not proceed beyond this point (PubMed:20654612)
Mice are predisposed to hypertrophic cardiomyopathy, and display abnormal cardiac electrophysiological characteristics, including defects in atrial depolarization and ventricular repolarization
Mice are viable and fertile, but exhibit overt inflammation with increased expression of Il6, Tnfa, Ccl2, haptoglobin and Socs3 in visceral adipose tissue as well as macrophage infiltration. They develop metabolic disease on regular diet with insulin resistance, glucose intolerance, mild hyperglycemia, dyslipidemia, and fatty liver disease. Adipocytes isolated from visceral fat exhibit severily defective glucose transport, with decreased expression of Slc2a4, Adipoq, Fas and Pparg. Glucose disposal is lower in response to insulin stimulation and hepatic glucose production is higher, confirming systemic and hepatic insulin-resistance
Embryos show various defects including smaller head and eyes
Males are sterile (elongated spermatids are almost completely lacking), but viable (PubMed:19345099). Chromatoid body (CB) components mislocalize and CB architecture is distorted in round spermatids (PubMed:19345099). miRNA expression is altered (PubMed:19345099). Knockout spermatids are accompanied by distortion of chromatoid body structure, preventing UPF1-DDX4 and UPF1-UPF2 interactions, as well as disturbed association of several mRNAs with UPF1 and UPF2, and impaired long 3' UTR-triggered NMD (PubMed:27149095). Knockout diplotene spermatocytes display a reduction of PRMT5 association with SNRPB (also named SmB) and a reduction in arginine dimethylation of SNRPB, leading to an impairment in the assembly of spliceosomes (PubMed:28263986)
Does not affect aflatoxin secretion (PubMed:15341913)
Essential, it cannot be deleted. In a temperature sensitive mutant at non-permissive temperature, slow processing of the 17S rRNA precursor to 16S rRNA; a double rne-rng mutated strain no longer processes the 17S rRNA precursor
Conditional knockdowns in retinal progenitors have thinner retinas with occasional regions abnormally organized into rosette-like structures in the outer nuclear layer and an optic nerve with a reduced diameter
Embryonically lethal
Reduced plant size and pale-green leaf phenotype
Deletion of isnA and isnB abolishes rhabduscin biosynthesis and decreases virulence of the strain
Retarded growth, deformed seeds with low rate of germination and reduced levels of palmitate and stearate
No visible phenotype under normal growth conditions (PubMed:16832621, PubMed:18344283). Mutant plants show increased sensitivity to ABA, NaCl or mannitol during germination (PubMed:16832621)
Strains lacking this gene produce only marginal amounts of extracellular rhamnolipids. They also show no swarming motility, and both other forms of surface motility, swimming and twitching, are completely absent in these mutant cells. Biofilm formation is also affected
Mice are viable and fertile, and display no major morphological defects. They exhibit deficiencies in Ca(2+)-dependent phospholipid scramblase activity in platelets and defects in blood coagulation (PubMed:23021219). They also show reduced skeleton size and skeletal deformities
Alteration of root gravitropic responses (e.g. delay, auxin-dependent root directional growth and larger variation of root tip angles) resulting in deeper root system architecture (RSA) and enhanced drought resistance (PubMed:31299202). Disturbed PIN4 distribution in columella cells associated with a perturbation of the auxin distribution pattern and an asymmetric accumulation of DR5 in the downward peripheral layer under gravistimulus (PubMed:31299202)
Plants are late-flowering. Increased alternative splicing of several genes, including APRR9
Constitutively activated HR-like cell death phenotype with endogenous accumulation of high levels of salicylic acid (SA) and constitutively activated defense phenotype. Dwarf plant with spotted necrotic lesions on its rosette and cauline leaves. Accumulation of high levels of callose and autofluorescent phenolic compounds localized to the necrotic lesions
Deficient mice die during organogenesis, lack cilia, and have randomized left-right patterning, pericardial edema and hemorrhages
Flies exhibit a temperature-dependent loss of Notch signaling, resulting in bristle loss (PubMed:18243100). Defects in muscle development (PubMed:27807076)
Mice show a specific phenotype: first, a post-transcriptional up-regulation of SLC5A1 in the small intestine, with an increased d-glucose absorption rate and capacity; second, an increased food intake that results in a visceral type of obesity
Lethal, unless exogenous ALA is provided, allowing heme biosynthesis from step 2 to proceed. An additional way to maintain cells alive is to add exogenous hemin (heme chloride), thereby fostering cells to use their heme uptake system
Homozygous knockout mice lacking Yif1b show impaired visual perception associated with retinal dysfunction and optic atrophy while no ventilator defects or increased susceptibility to seizures is observed. Some deficits in fine motor skills and coordination are also observed. Mutant mice have delayed cerebral myelination, enlarged ventricles, and cerebellar atrophy associated with a reduction in the number of Purkinje cells due to neurodegeneration and necrosis. Purkinje cells show fragmentation of the Golgi apparatus, large autophagosome-like vacuoles, and alteration of the endoplasmic reticulum with dilated cisternae. Male knockout mice are infertile due to abnormal spermatozoa flagella that show microtubule disorganization. Primary cilium abnormalities are also observed in cerebellar Purkinje cells and hippocampal pyramidal cells, for instance
Altered response to auxin, but persistance of the telomerase activity
Reduced primary root length and number of lateral roots. Reduced plant growth, delayed flowering, increased expression of antioxidant genes under basal conditions and reduced oxygen consumption in the dark
Death at first larval instar
Cells lacking this gene have a level of c-di-GMP almost four-fold higher than that of the respective parent strain. Disruption of this gene also results in increased biofilm formation
Knockout mice are born at the expected Mendelian ratio. At 4 weeks of age, their body length is slightly shorter than that of wild-type littermates. They progressively develop severe osteopetrosis, reduced bone resorption in endocortical and trabecular regions, and increased bone mineralization. Knockout animals have lifelong accumulation of bone, and females are resistant to ovariectomy-induced bone loss. Osteoclasts derived from mutant mice form a reduced area of resorption pits compared to controls, suggesting dysfunction of multinucleated osteoclasts. Osteoclast precursors differentiate into multinucleated cells, but fail to form peripheral sealing zones and ruffled borders, and do not resorb bone (PubMed:23526378, PubMed:27055475). These abnormalities are associated with changes in the SRC signaling pathway. This phenotype may be specific LRRK1 ablation, as knockout of the paralogous gene LRRK2 does not show any obvious bone phenotype (PubMed:23526378)
RNAi-mediated knockdown in segment A8 of the male genital disk causes loss of the normal dextral rotation of the genital plate and results in a phenotype with no rotation (PubMed:22491943). During oocyte border cell migration, RNAi-mediated knockdown in either the border cells (BC) or in the surrounding nurse cells results in various BC migration defects such as BC deviating from their migration path or failing to sustain the directed, posterior movement (PubMed:30763317, PubMed:24855950). RNAi-mediated knockdown in the outer migratory BC disrupts distribution of Rac1 in the BC cluster but does not affect motility and cells remain clustered (PubMed:24855950). RNAi-mediated knockdown in oocyte polar cells (PCs) results in BC cluster dissociation in 80 percent of egg chambers (PubMed:30763317)
Has no significant effect on the synthesis of 2-oxocyclopiazonic acid, cyclopiazonic acid (CPA) and their biosynthetic intermediates
Mice show decreased adipocytes size and highly insulin sensitivity, leading to an improved control of circulating fatty acids. Mutants are protected from hyperglycemia and insulin resistance in the state of obesity. Loss of circadian pattern of some clock genes expression in the peripheral tissues and massive apoptosis of thymocytes. Knockout mice for isoform 2 lack all lymph nodes and Peyer's patches, as well as LTi cells. They also show a reduction of T(H)17 cells in the lamina propria by at least 10-fold to less than 1% of the T(H) cells. Mice are less susceptible to autoimmune inflammatory diseases
Zpr3 and zpr4 double mutants exhibit homeotic transformation and ectopic meristem activity
Essential, it cannot be deleted when cells grow on LB but cells will grow with pyruvate as the sole carbon source; if glycogen synthesis is impaired then cells become viable (PubMed:19103924). Most deletion experiments use an allele which has a kanamycin-resistance cassette inserted after amino acid 50, which retains about 10% residual activity (PubMed:8393005, PubMed:19103924). Increased levels of glgC transcripts during both exponential and stationary phases (PubMed:7751274). Decreased levels of enzymes involved in glycolysis (PubMed:7493933). Increased biofilm formation (PubMed:11741870). Decreased expression of it antagonistic small RNAs CsrB and CsrC (PubMed:12694612). Allows basal levels of poly-GlcNAc synthesis and biofilm formation; this disrupted strain serves as a model system for biofilm formation (PubMed:19460094). Increased expression of RelA, about 1.5-fold increase in (p)ppGpp levels (PubMed:21488981). Increased levels of ECF sigma factor E (rpoE) (PubMed:28924029)
Leads to enhanced susceptibility to the commonly used antifungal, fluconazole, during biofilm growth only
Cells lacking this gene are not able to produce enough enterobactin for efficient growth
Trim3-knockout mice are viable, fertile and showed no obvious morphological abnormalities (PubMed:24086586). However, they display increased levels of gamma-actin at hippocampal synapses, resulting in higher spine densities, increased long-term potentiation, and enhanced short-term contextual fear memory consolidation (PubMed:26527743). In addition, they express lower levels of antiviral genes and show lower levels of inflammatory response following poly(I:C) but not lipopolysaccharide (LPS) stimulation (PubMed:32878999)
Deletion mutants result in reduced production of pyocyanine, motility, and proteolytic activity. The motility defect is due to the inability of these mutants to synthesize flagellin (PubMed:2152909). Significantly decreased porin oprE expression under aerobic conditions (PubMed:9595661). Mutants also show defect in biofilm formation (PubMed:29760208)
Mutant exhibits reduced growth on pectate, but retains pathogenicity on chrysanthemum
Knockout mice undergo premature death due to the occurrence of myelo-proliferative neoplasms. The absence of Zfand2b plays a driver role in the development of these neoplasms by hyperactivating the insulin-like growth factor receptor signaling pathway. This is due to increased expression, in particular at the cell surface, of the IGF1R receptor
Pale-green phenotype and greatly reduced growth. Disturbed thylakoid membrane systems
Defects in Nog are the cause of a recessive lethal phenotype at birth. Multiple defects include a failure of neural tube closure, broad club-shaped limbs, loss of caudal vertebrae, a shortened body axis, and retention of a small vestigial tail
Mutants do not grow with sulfoacetate, but can use acetate, taurine, isethionate and sulfoacetaldehyde. Mutants are also unable to induce expression of the sau cluster
No visible phenotype under normal growth conditions, but mutant plant have enhanced sensitivity to salt, drought and cold stresses
Deficient mice develop and grow normally. Knockout males, but not females, exhibit subfertile capacity. Deficient mice are characterized by abnormal sperm head shape and a failure of sperm-egg fusion (PubMed:27488028)
Mutant S cells are killed by an avirulent Legionella strain that does not kill wild-type Dictyostelium. These results indicate that, although TirA is not required for S cell differentiation, it is critical for the effective response of S cells to bacteria. Show growth attenuation correlated with a discernable loss of cell viability. In addition, tirA mutant cells appeared to be more sensitive to killing by Legionella
Leads to reduced virulence
No cAMP synthesis. Cells are unable to aggregate, stimulation with cAMP pulses restores aggregation but slug and fruiting body formation remains very inefficient. When placed in a cAMP gradient mutants lacking ACA acquire polarity and migrate along the gradient but fail to align in a head to tail fashion and form streams. They are also unable to suppress lateral pseudopod formation, resulting in abnormal turns and inefficient chemotaxis. Transfer of the temperature-sensitive mutant tsaca2 to a temperature of 28 degrees Celsius leads to developmental arrest that is reversible when the temperature is shifted down to 22 degrees Celsius. In mutants with a constitutively active ACA, localization to the uropodium in polarized cells is reduced and these mutants fail to stream in a cAMP gradient
Morpholino knockdown of the protein results in an edematous phenotype and proteinuria (PubMed:25961457). Podocyte foot process effacement and disorganization, rarefaction of slit membranes, and disorganization of the glomerular basement membrane in glomeruli which are characteritic of nephrosis are observed (PubMed:25961457)
Cells have no developmental defects, but cells are abnormally large and show a highly motile phenotype
Mice are viable and healthy but show enhanced endoplasmic reticulum stress response in the salivary gland
Mutant is deficient in expression of the O157 LPS antigen. Increases adherence to cultured epithelial cells
Cells lacking this gene fail to grow on low-ammonia medium but grew on the high-ammonium medium
No visible phenotype, even in gamt1 and gamt2 double mutants
Severe retinal degeneration, growth retardation and secretory cell lesions. Mice are smaller with a reduced mean body weight and length, along with a reduction in total tissue mass and lean body mass. They show elevated levels of serum lysosomal enzymes, cartilage defects, and display cytoplasmic alterations in secretory cells of several exocrine glands
No visible phenotype under normal growth conditions. The double mutant plants rglg3 and rglg4 show decreased sensitivity to jasmonate
Embryonic lethality due to division arrest before the globular stage
Affects slightly survival under dry conditions but does not affect survival under frozen conditions (PubMed:28306513)
Reduced length of primary root and increased sensitivity to salt stress
Enhanced shoot branching phenotype
No visible phenotype, and full processing of glyoxysomal precursor proteins
Mice display circling and head tossing behavior, due to a defect in inner ear morphogenesis. In mutants, fusion of the canal pouches starts earlier than normal and involves an abnormally large region, leading to truncation of the lateral semicircular canal in the inner ear. Nevertheless, hearing seems to be normal. Mutant mice also display craniofacial deformities, and especially a dramatically shortened snout
Pale green leaves and reduced chlorophyll levels associated with altered regulation of sugar-sensing genes (e.g. HXK1, HXK2, STP13 and PLT6) (PubMed:18417639, PubMed:22102866, PubMed:22811435). Reduced chloroplast size (PubMed:22811435). Faster seed germination. Early flowering. Increased leaves size (PubMed:20844019, PubMed:22102866). Reduced gibberellic acid (GA) levels due to increased GA turnover and associated with reduced expression of GA-anabolizing enzymes (e.g. GA3OX1) but increased expression of GA-catabolizing enzymes (e.g. GA2OX2) (PubMed:20844019). Small seeds with deformed seed coats (PubMed:22102866). The double mutant gnc cga1, lacking both GATA22 and GATA21, exhibits reduced sensitivity to cytokinin (e.g. benzyladenine) toward chloroplasts growth (PubMed:22811435)
Knockout mice are born at the expected Mendelian rate and do not exhibit any overt phenotype in normal housing conditions. The gastrointestinal tract develops normally. They are however resistant to LPS-induced lethal septic shock. Primary bone marrow-derived macrophages fail to undergo pyroptosis in response to canonical (acting via CASP1), as well as to non-canonical (acting via CASP4) inflammasome activators. CASP1-mediated IL1B release is also impaired, but not CASP1 autoprocessing, nor IL1B maturation
Response to extracellular ATP remains the same in p2xE null strains. Null cells are still capable of osmoregulation and do not show any noticeable differences in their sensitivity to hypotonic conditions. Quintuple p2xA/p2xB/p2xC/p2xD/p2xE null cells displayed slight delay in their osmoregulatory response, but are still capable of regulating their cell volume in water. Extracellular purinergic response to ATP persists in the quintuple null cells with no alteration in the kinetics of the response, but the magnitude of the response is lower. Responses to the calmodulin antagonist calmidazolium are reduced and intracellular calcium signaling is disrupted in quintuple null cells. The presence of copper prevented both wild type and quintuple null cells from undergoing an osmoregulatory decrease in cell volume. No obvious morphological phenotype was apparent in the p2xE or quintuple p2x null strains. The quintuple p2x null strains grow slightly slower than wild type in shaking axenic cultures
Mice are viable, fertile and show normal cerebellar granule neuron migration. The anatomy of all major brain areas are histologically normal. However, basal synaptic transmission in pyramidal cells in the CA1 region of the hippocampus are increased and long-term potentiation evoked by theta-burst stimulation are reduced. Mice show an impaired long-term memory and a poorer spatial learning when a short inter-trial interval is used (PubMed:12213450, PubMed:12358771). Mutant female mice are subfertile, have extensive growth of endometrial epithelium associated with increased 17-beta-estradiol levels at pro-estrus phase and dysregulated hormonal cycle (PubMed:23269668)
RNAi-mediated knockdown in males results in a number of effects in females mated with these males including impaired processing of the metalloprotease Semp1 and the accessory gland proteins Acp26Aa and Acp36DE, lower levels of egg laying after the first day post-mating, higher rates of sexual receptivity to subsequent males and failure to release stored sperm from the female seminal receptacle
Results in sterility where fewer eggs are laid and none reach larval stage (PubMed:31219034, PubMed:31384064). Increases transposon expression (PubMed:31219034, PubMed:31384064). RNAi-mediated knockdown in the germline does not affect ovary morphology but results in severe fertility defects where eggs are laied but do not hatch (PubMed:31368590). RNAi-mediated knockdown in the germline increases transposon expression and impairs Panx localization in nurse cells by reducing its stability (PubMed:31219034, PubMed:31570835, PubMed:31368590, PubMed:31384064)
Mutant mice are subfertile with normal testicular morphology and spermatogenesis but moderately impaired motility and increased levels of ROPN1L (PubMed:23303679). Double knockout animals for ROPN1 and ROPN1L are infertile with normal testicular morphology and spermatogenesis but defects in sperm morphology, thinning and shredding of the principal piece. Sperm is immotile (PubMed:23303679)
Quadruple knockout of PMI, PMII, PMIII and PMIV causes a decrease in proliferation, an impaired proliferation in an amino acid-limited medium, a reduced formation of haemozoin and an abnormal accumulation of endosomal vesicles inside the digestive vacuole
Increases RNA level of ITR3, ITR3B, and ITR3C (PubMed:20689743). Reduces mating hyphae production; conjugation appears normal (PubMed:20689743). Simultaneous disruption of INO1 leads to an exacerbated mating and sporulation defect, and attenuates virulence in a murine inhalation model of systemic infection (PubMed:20689743)
Displays a severe male gametophyte development defects in cv. Wassilewskija but not in cv. Columbia due to the complementation by RPT5B
Double RNAi-mediated knockdown together with mes-2 RNAi results in ectopic expression of the homeobox protein egl-5 in the head region (PubMed:17574230). This ectopic expression of egl-5 in the head region is enhanced in a nfya-1 bp4 mutant background (PubMed:17574230). In addition in this background in males, there is ectopic expression of egl-5 in the mid-body region including in seam cells and hypodermal nuclei, and there is ectopic ray formation (PubMed:17574230)
Mutant mice develop hyperekplexia-like phenotype due to impaired glycinergic inhibitory transmission. Administration of glycine and L-serine reverses the phenotype
Cells lacking this gene are constitutive in the expression of the treBC operon
Deletion mutant is unable to grow by using dimethyl phosphate (DMP) or the phosphotriesters as phosphorus sources
Inactivation of the gene results in both impaired growth and strong inhibition of Mn(2+) uptake
RNAi-mediated knockdown in pigment dispersing factor (Pdf)-expressing clock neurons disrupts circadian locomotor rhythms, with mutants displaying long period locomotor rhythms under constant dark conditions. Enhances the period-lengthening phenotype of tyf mutants
No visible phenotype under normal growth condition (PubMed:15557090). Not able to grow with methylthioadenosine (MTA) as unique source of sulfur (PubMed:15557090). Imbalanced AdoMet homeostasis in sulfur-limiting conditions associated with a retarded growth (PubMed:17144895)
Cells lacking this gene exhibit a disruption of the production of certain higher-order phosphatidylinositol mannosides (PIMs) species
Late flowering phenotype under short day (SD) and long day (LD) conditions
Impairs the production of gibberellins, fumonisins and fusarin C (PubMed:20572938). Reduces both the fusaric acid gene cluster expression and production of fusaric acid (PubMed:24389666). Affects conidiation associated with stunted aerial hyphae (PubMed:20572938)
Becomes sensitive to thailandamide antibiotic
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Strongly reduces conidiation (PubMed:28894236). Strongly reduces the production of deoxynivalenol (DON), an important virulence determinant (PubMed:28894236)
Lead to a cell separation defect
Male mice are sterile due to defects in chromosome synapsis at prophase I, leading to an arrest at a zygotene-like stage leading to total azoospermia. Females are fertile but develop an age-dependent sterility
Leads to the accumulation of paspaline and 13-desoxypaxilline, but also lolitriol and a small amount of lolitrem J (PubMed:22750140)
Altered meristem development. Altered developmental gene expression in meristem and non-meristem tissues of the embryo. Altered pattern of aleurone differentiation in the abgerminal side of the endosperm
No obvious phenotype (PubMed:18410727, PubMed:23806619, PubMed:24700158). However females are sterile and aging males become prematurely sterile (PubMed:18410727, PubMed:23806619). Males and females exhibit a range of defects in their germarium that may be age dependent phenotypes (PubMed:18410727, PubMed:23806619, PubMed:27174470). Most phenotypes result from defects in germline stem cell (GSC) differentiation that often lead to GSC loss (PubMed:23806619, PubMed:27174470). Also affects somatic cells of the ovarian stem cell niche, with delayed terminal filament formation and cap cell loss (PubMed:27174470). In 10 day old males, stem cell niches display a decrease in hub cell number but somatic cyst stem cells are unaffected (PubMed:27174470). No significant decrease in adult survival, however double mutants with either bocks or Man1 do not survive to the adult stage (PubMed:24700158). Double bocks and Ote mutant larvae have small brains, their imaginal disks are reduced in size or absent, and only 10% of second-instar larvae reach the pupal stage (PubMed:24700158). In Ote and MAN1 double mutants, pupal survival and larval development is unaffected (PubMed:24700158)
Mice with a homozygous knockout of this gene are more easily killed by wild-type E.coli, but the knockout has no visible killing effect on E.coli deleted for outer membrane protein A (ompA)
Mice exhibit markedly abnormal posterior chamber of eyeball with a configuration suggestive of increased axial lengthening, compared to the rounded appearance in wild-type littermates
Variable phenotypes have been reported. In some studies mice display normal development and viability with impaired exocrine pancreatic function and no development of gastrointestinal tumors (PubMed:17983803, PubMed:18202109). In other studies mice die between 4.5 dpc and 5.5 dpc due to defects in the differentiation of the primitive endoderm layer (PubMed:15452149)
Abolishes the production of 15-deoxyoxalicine B and accumulates decaturin F
Leads to the accumulation of eburicol (PubMed:18191972). Leads to decreased susceptibility to azoles, especially fluconazole and ketoconazole, as well as to itraconazole in an itraconazole-resistant strain
Not essential even when cells grown in the presence of dichromate or cadmium (CdCl(2)). Loss of dichromate and cadmium induction of the regulon's genes, including partial loss of its own expression. A double sigF-nrsF deletion is viable, whereas a single nrsF deletion (for the cognate anti-sigma factor) cannot be made
Defective preference between different food odors (PubMed:25009271). Abnormal repetitive turning behavior during male mating (PubMed:17611271)
Mice develop normally but are born at a slightly lower ratio than the expected Mendelian rate (PubMed:20577052, PubMed:20634410). Cells display systemic reduction of autophagic activity, characterized by defective proteolytic processing of ATG8 family proteins, compromising the rate of autophagosome maturation (PubMed:20577052). Mice show severe balance disorders, which are caused by defects in the development of otoconia (PubMed:20577052). The central nervous system (CNS) of mutant mice also displays amorphous globular bodies in the neuropil of the deep cerebellar nuclei and adjacent vestibular nuclei (PubMed:20634410). The spheroid-like bodies in the deep cerebellar and vestibular nuclei show heterogeneous composition, characteristics of proteinaceous material (PubMed:20634410)
Decreased grain length, grain width, and grain filling (PubMed:35941236). Delayed seed germination and retarded seedling growth (PubMed:35941236)
Females show normal ovarian histology, ovulation and egg morphology, however fail to produce offspring following successful mating (PubMed:25208553). Progression from one- to two-cell embryos is delayed by 4-6 hours and embryos failed to develop into morulae and blastocysts (PubMed:25208553). Embryos form unequal sized blastomeres due to smaller, dysmorphic, and displaced mitotic spindles resulting to asymmetric division (PubMed:25208553). Loss of FMN2-expressing endoplasmic reticulum localization to the mitotic spindle periphery, and incorrect localization of mitochondria to the subcortical region prior to nuclear envelope breakdown in zygotes and oocytes (PubMed:28992324). Extension of the alpha-tubulin pool into the subcortical region following microtubule-organizing center congression in oocytes (PubMed:28992324). Decrease in expression of the SCMC components ZBED3, NLRP5/MATER, KHDC3/FILIA and OOEP/FLOPED in oocytes (PubMed:25208553, PubMed:28992324). Loss of F-actin cytoplasmic lattices in oocytes, zygotes and embryos (PubMed:25208553, PubMed:31575650). Decrease in thickness of subcortical F-actin in zygotes and thickening of F-actin bundles in the cytoplasm is evident (PubMed:25208553). Decrease in CFL1/Cofilin-1 expression in the subcortex, diffused distribution in the cytoplasm of zygotes and decrease in phosphorylated CFL1/Cofilin-1 expression in oocytes and zygotes (PubMed:25208553)
Results in complete loss of ustilagic acid production
RNAi plants show severe growth retardation, the formation of spontaneous disease-like nectrotic lesions leading to premature cell death. The defective plants also display a strong reduction in protein synthesis, the induction of autophagy and nitrogen mobilization
Accelerated senescence
Animals are viable, fertile and coordinated (PubMed:12628183). Defective HSN axon branching at the vulva (PubMed:12628183). Abnormal synaptic vesicle clustering in HSNL motor neuron (PubMed:12628183, PubMed:15035988). Synapses in the secondary synapse region, anterior to the vulva, are not eliminated during synapse development and persist into adulthood (PubMed:17626846)
No visible phenotype under normal growth conditions, but plants accumulate 7-hydroxymethyl chlorophyll a in green leaves
Abolishes the production of iso-A82775C, but accumulates pestalofone A
Strains deleted for this gene show hypervirulence upon intravenous inoculation in the mouse and DBA/2 model (PubMed:12595424). However contradictory results were shown for using a devR/devS deletion strain in rabbits, guinea pigs and C57BL/6 mice (PubMed:19103767). All studies agree that deletion strains fail to induce the dormancy regulon genes in response to hypoxia, NO, and CO (PubMed:11416222, PubMed:12694625, PubMed:18474359, PubMed:18400743, PubMed:19487478). Deletion has no effect on expression of dosT (PubMed:19487478)
Simultaneous disruption of erfK, ybiS, ycfS and ynhG leads to loss of covalent anchoring of the major outer membrane lipoprotein (Lpp) to the peptidoglycan. Complementation with ybiS restores most of this anchoring
Induction of the PhoP/PhoQ two-component regulatory system, suppressed by 50 uM CuSO(4)
Marked perturbation of mitotic spindle architecture (PubMed:14681690). RNAi-knockdown in the male germline abolishes the asymmetric enrichment of Alms1a to the mother centrosome (PubMed:32965218)
Mice are viable and develop normally. However, males produce smaller litters, indicating specific male fertility problems
Lack of late Golgi SNARE proteins, TLG1 and TLG2. Spores are temperature sensitive and fail to germinate at 37 degrees Celsius. 10 to 20% of cells possess a variety of aberrant structures, including fragmentation of the vacuole, a common occurrence in secretory defects, and substantial accumulation of membranes in some cells. These structures are considered to be abnormal Golgi remnants. Endoplasmic reticulum (ER) retention defective, erd phenotype, which is characterized by hypersecretion of ER-resident proteins. This results from a defect in retrograde directed vesicles. Severely compromised viability when another Golgi protein, COY1P is overexpressed. Incomplete maturation of alpha-factor via defective localization of KEX2
Reduces by 80% cephalosporin C production and leads to an altered hyphal morphology (PubMed:17400783)
No oxidation of thiosulfate with a simultaneous deletion of soxX alone or together with a deletion of soxB
No visible phenotype (PubMed:23832588). The double mutant yip4a yip4b exhibits disturbed trans-Golgi network (TGN)-Golgi association and cell elongation defects leading to reduced roots and hypocotyls growth associated with an abnormal cell wall composition and a mislocalization of trans-Golgi network (TGN)-localized proteins SYP61 and VHA-a1 (PubMed:23832588, PubMed:30770391). The double mutant yip4a yip4b has also a reduced number of root trichoblasts displaying Rho-of-plant (ROPs e.g. ARAC4/ROP2, ARAC5/ROP4 and ARAC3/ROP6) patches and leading to an almost complete absence of root hairs (PubMed:30770391). Strongly reduced ROP2 plasma membrane localization (PubMed:30770391)
Increased stability of speF mRNA
Early neonatal lethality, possibly due to impaired nasal respiration caused by asymmetric and occluded nasal cavities (PubMed:33012048). In addition to nasal cavity occlusion, mice display growth defects and craniofacial malformations (PubMed:33012048). Mice with a specific deletion in neural crest-cells survive, but display growth defects and craniofacial malformations partly phenocopying the effect of the global knockout mice (PubMed:33012048)
Decreases chitin-binding, has no visible effect on extracellular staphylolytic or protease activity (PubMed:10671445). Decreased association with the hyphae form of C.albicans strain SC5314; P.aeruginosa does not adhere to yeast form C.albicans (PubMed:23509956)
Reduced fecundity and transgenerational sterility (PubMed:20661436). Increased apoptosis in germ cells and hypersensitivity to ultraviolet and ionizing radiation and hydroxyurea-induced replication stress (PubMed:20661436, PubMed:24424777). Increased rad-51 foci in the mitotic and meiotic germline (PubMed:20661436, PubMed:27010650, PubMed:24424777). Chromosome fragmentation defects and unresolved diakinesis chromosomes in meiotic oocytes (PubMed:20661436, PubMed:27010650). Increased accumulation of homologous recombination intermediates during meiosis (PubMed:20661436, PubMed:27011106, PubMed:27010650). Impaired DNA replication in germ cells (PubMed:24424777). Accumulation of brd-1 and rmh-1 on chromosomes in mitotic germ cells (PubMed:24424777, PubMed:27011106). In a spo-11 mutant background, no accumulation of meiotic rad-51 foci and decrease in chromosome fragmentation (PubMed:20661436). In a him-3 mutant background, increase in rad-51 foci and chromosome fragmentation (PubMed:20661436). RNAi-mediated knockdown of syp-2 leads to an increase of chromosome fragmentation (PubMed:20661436). In a xpc-1 mutant background, increased ultraviolet sensitivity (PubMed:24424777). In a xpc-1 or csb-1 mutant background, enhanced ultraviolet-induced delay in somatic development (PubMed:24424777). In a rmh-1 mutant background, increased embryonic lethality and larval arrest (PubMed:27011106). In a him-6 mutant background, increased cross-over frequency, formation of chromatin bridges, defects in diakinetic chiasmata formation, aberrant distribution of the condensin II subunit hcp-6 and compromised chromosome segregation in meiosis, leading to embryonic lethality (PubMed:27010650)
RNAi-mediated knockdown mostly results in embryonic lethality, but embryos that do hatch produce larvae with a large number of apoptotic cell corpses, which are first present at the comma stage of development (PubMed:12944970). Surviving animals are uncoordinated (PubMed:12944970). RNAi-mediated knockdown results in increased neuronal and intestinal cell death and a reduced number of male tail rays in larvae (PubMed:12944970). RNAi-mediated knockdown in larvae results in increased survival and mobility in response to a constant temperature of 36 degrees Celsius, when compared to wild-type (PubMed:22957041). RNAi-mediated knockdown in adults results in embryos with severe morphological defects and high numbers of enlarged bi-refringent lipofuscin glo-1-positive granules in their gut cells, and increased cell death and degeneration (PubMed:22957041). These embryos also have increased expression of the endoplasmic reticulum-specific chaperone protein hsp-4 in regions of the embryo that contain gut and epithelial cells (PubMed:22957041)
Defective ALM, BDU and QR neuroblast migration and irregular HSN and CP axon growth and guidance (PubMed:16109397). Double knockout with cwn-2 results in ALM and CAN migration defects (PubMed:16109397). Double knockout with either cwn-2 or egl-20 results in HSN migration defects (PubMed:16516839). Triple knockout with cwn-2 and cfz-2 results in enhanced neuronal cell migratory defects (PubMed:16109397)
Decreases phosphatidylcholine and glucosylceramide transport into cell (PubMed:33060204). Simultaneous knockout of DNF2 leads to abnormal endocytosis and abnormal cell surface exposure of phosphatidylethanolamine, phosphatidylcholine and phosphatidylserine (PubMed:12631737). Simultaneous knockout of DNF2 results in cold sensitivity, and sensitivity to cobalt, nickel, zinc, calcium, and magnesium ions, duramycin and cinnamycin (phosphatidylethanolamine-binding cytoxins) and papuamide A (phosphatidylserine-binding cytotoxin) (PubMed:30824614, PubMed:12631737)
Abolishes growth in the presence of gliotoxin (PubMed:32667960). Leads to reduced growth in the presence of the oxidative stress-inducing compounds allyl alcohol, t-butyl hydroperoxide, but not menadione (PubMed:32667960)
Decreased induction of Cpx two-component regulatory system (PubMed:16166523). Increased accumulation of periplasmic accessory protein CpxP, increased accumulation and toxicity of overexpressed, misfolded periplasmic proteins (PubMed:16303867). Increased resistance to hydroxyurea, probably due to decreased degradation of misfolded proteins which eventually leads to decreased OH radical formation (PubMed:20005847)
Plants are albino and seedling lethal
Defects can cause a delay in spermatogenesis, temperature-sensitive sterility and defective sperm
Mice are healthy and do not display any obvious abnormality. They have normal T-cell, platelet and macrophage function, but show reduced levels of spontaneous immunoglobulins in the serum, and defects in B-cell proliferation
Mice are born at the expected Mendelian rate, are viable and fertile. They present no obvious phenotype excepting subtle size differences of cerebellar lobes IV and V. Contrary to wild-type, cerebellar cells do not form neurites when plated on a surface coated with contactin (in vitro) (PubMed:11564762). Neonates present delayed formation of sodium channel clusters at developing nodes of Ranvier, but are indistiguishable from wild-type at 10 days after birth (PubMed:14602817, PubMed:20188654). Mice lacking both Gldn and Nrcam are born at the expected Mendelian rate, but are smaller than control littermates and display important neurological impairments, in spite of seemingly normal nerve myelination. Motor abnormalities vary between individuals, ranging from ataxia, uncoordinated movements and premature death to weakness of the hind limbs, hypomotility, strongly impaired ability to hang from a horizontal bar with their forelimbs and a tendency to stumble. The motor defects correlate with decreased velocity of nerve conduction and slower propagation of action potentials. Most mice die within 60 days after birth, and none are fertile. Mutant mice display delayed formation of mature nodes of Ranvier; 15 days after birth about 20% of the nodes lack detectable sodium channel clusters. Sodium channel clustering and nerve conduction appear normal 60 and 75 days after birth, but subsequently a gradual disintegration of the nodal protein complexes is seen. About 70% of the mutant nodes present high-density sodium channel clustering at 120 days after birth, as opposed to nearly 100% for wild-type. Contrary to wild-type, in adult nodes of Ranvier the sodium channels are often clustered near the paranode border with an empty gap in the middle. At nodes of Ranvier, Schwann cell microvilli are sparse or absent and show defects in their orientation, resulting in various structural abnormalities at the node and the paranode border (PubMed:24719088)
Deletion of the gene results in a slight reduction of UV resistance
Long hypocotyl phenotype under continuous far red (cFR) light. Suppression of COP1 disruption. Decreased sensitivity to jasmonic acid (JA) and methyl-jasmonate (MeJA) inhibition of root elongation, but increased sensitivity to abscisic acid during seed germination. Reduced induced systemic resistance (ISR) mediated by P.fluorescens (CHAOr and WCS417r) and P.putida LSW17S in roots toward H.parasitica and P.syringae pv. tomato in leaves. Increased susceptibility to the fungi P.irregulare, U.vignae and U.appendiculatus. Enhanced sensitivity to ozone O(3). Reduced fungal toxin fumonisin B1-mediated (FB1) induced apoptosis-like programmed cell death (PCD). Impaired SA-mediated, NPR1-independent resistance pathway. Reduced gene induction in resposne to chitin. Reduced PGIP2 accumulation upon B.cinerea infection leading to enhanced sensitivity. Altered defense activation by volatile compounds such as C6-aldehydes. Disrupted UV-B alteration of leaves attractiveness to diamondback moths P.xylostella, accompanied with reduced levels of UV-absorbing phenolic compounds. Reduced accumulation of JA-Ile conjugates in response to wounding, both locally and systemically. Compromised P.oligandrum cell wall protein fraction (CWP) induce systemic resistance against R.solanaceraum and P.syringae pv. tomato. Enhanced resistance to F.graminearum
Deletion mutant cannot form bacterial ceramide (PubMed:33063925, PubMed:34969973). Mutants are impaired in growth at elevated temperatures but are resistant towards the antibiotic polymyxin B (PubMed:33063925)
Not essential for growth in liquid culture
Mice are protected against cerebral ischemic neuronal death
Leads to reduced conidiation and mycelial growth (PubMed:19661696). Delays the transfer of conidial glycogen and lipid droplets and decreases efficiency of appressorium-mediated invasion of rice leaves (PubMed:19661696)
No visible phenotype. No defect in T cell, B cell and erythrocyte development. Normal percentage of common myeloid precursors (CMP) and common lymphoid precursors (CLP) in the bone marrow
Stunted growth and reduced pollen germination and growth
Deletion of the gene impacts ubiquinone biosynthesis in aerobic conditions but does not decrease menaquinone biosynthesis. Mutant accumulates octaprenylphenol, an early intermediate of the ubiquinone biosynthetic pathway
CD3Z deletion causes severely defective thymocyte differentiation (PubMed:8223495). Absence of CD3Z also leads to altered dendritic structure and motility in developing retina (PubMed:20188655)
RNAi-mediated knockdown at the L4 larval stage results in less than 10% embryonic lethality in offspring or death at the larval stage (PubMed:30336114). RNAi-mediated knockdown at the L1 larval stage results in sterile animals, which do not seem to produce mature oocytes, but that survive to adulthood (PubMed:30336114). Double RNAi-mediated knockdown at the L4 larval stage with hmg-3 results in 60% embryonic lethality in offsping (PubMed:30336114). Double RNAi-mediated knockdown with hmg-3 in embryos results in defective cell cycle initiation, duration and completion and in failed development of the anterior pharynx (PubMed:30336114)
Dramatic overgrowth of synaptic termini, with a large increase in the number of synaptic boutons and branches. Also impaired synaptic transmission
RNAi-mediated knockdown results in embryonic lethality (PubMed:12937276, PubMed:28122936). Reduces nuclear import and diameter of pronuclei prior to pseudocleavage regression (PubMed:35852146). Embryos show an abnormal distribution of nuclear pore complexes and patchy nuclear envelope assembly (PubMed:35852146). Also causes severe defects in mitosis due to abnormal chromosome organization on the mitotic spindle during anaphase (PubMed:28122936). Two-cell embryos appear to lack nuclei and pronuclei
High levels of X chromosome non-disjunction at the first meiotic division, severe failure to initiate DNA double-strand breaks in oocytes in early pachytene and complete failure of meiotic recombination
Cells lacking this gene produce a normal lipid A structure with GalA at the 4'-position but a modified LPS core structure as this gene deletion results in elimination of the addition of GalA to the Man residue, but does not affect the addition of GalA to the 4- and 5-positions of outer Kdo. The mutant cells are also more resistant to the polycationic antimicrobial peptide PmxB
Cells show attenuated virulence in murine survival studies although initial replication rates and containment of this replication in the lung and spleen are identical to the wild-type. Inactivation of the mmpL8 gene interrupts the normal biosynthesis of SL-1 and leads to the accumulation of the precursor SL1278
Exhibits prolonged lifespan, increased resistance to heat stress, reduced brood size and changes in gene expression (PubMed:29714684). In a glp-1(e2141) mutant background which lacks a germline, extended lifespan, increased H3 protein levels, decreased levels of trimethylated histone H3 'Lys-9' (H3K9me3) and 'Lys-27' (H3K27me3) and changes in gene expression (PubMed:22212395, PubMed:29714684). In spr-5 null mutants, accelerates the progressive sterility and accumulation of histone H3 'Lys-4' dimethylation (H3K4me2) over generations which is seen in spr-5 mutants (PubMed:24685137). Simultaneous RNAi-mediated knockdown of set-26 and set-9 results in extended lifespan (PubMed:22212395)
Impairs the ability to produce TeA under the DMSO-added, TeA-inducing culture conditions
Worms display a lack of uptake of GFP from the pseudocoelom into coelomocytes, suggesting a decrease or absence of endocytosis in coelomocytes. Mutants also display a slightly dumpy appearance with a low penetrance defect in distal tip cell leader function, indicating defects in coelomocyte function
Death between 13.5 dpc and 14.5 dpc due to abnormalities in fetal vessels
Early postnatal lethality caused by abnormal cornification (PubMed:14517554). Mice survive until weaning and probably die from malnutrition resulting from hyperkeratosis in the esophagus and forestomach that cause gastric obstruction (PubMed:14517554). Defects are caused by constitutive activation Nfe2l2/Nrf2, leading to constitutive expression of phase 2 detoxifying enzymes (PubMed:14517554). Mice lacking both Nfe2l2/Nrf2 and Keap1 reverse the hyperkeratosis phenotype and are healthy and viable in normal conditions (PubMed:14517554)
The double mutant ktn80.1 ktn80.2 exhibits normal growth, but the quadruple mutant ktn80.1 ktn80.2 ktn80.3 ktn80.4 has a severe dwarf phenotype, with small and round dark-green rosette leaves as well as wide and short petioles, probably due to cell elongation defects, and associated with a complex cortical microtubule (MT) network with stable entanglements (PubMed:28978669). Plants missing KTN80s have a disruption of KTN1 recruitment at MT crossover or branching nucleation sites, leading to an abolishment of MT severing (PubMed:28978669)
Increased susceptibility to the oomycetes Phytophthora brassicae and Phytophthora capsici (PubMed:26011556). Decreased abscisic acid (ABA) uptake through the plasma membrane and strongly delayed up-regulation of ABA responsive genes (e.g. NCED3, ABR1 and RD29B), and associated with a slow stomatal closure in response to ABA and osmotic stress resulting in reduced drought tolerance (PubMed:20133880). Impairment in ABA regulation of seed germination and root development (PubMed:20133880). Early seeds germination on imbibition without stratification, and reduced abscisic acid (ABA)-mediated inhibition of seeds germination (PubMed:26334616)
RNAi-mediated knockdown causes a loss in aspartyl aminopeptidase activity, the rupture of the food vacuole in ring and schizonts and an accumulation of large lipid droplets and host hemoglobin in trophozoites
Embryonic lethal, both before blastula stage or during gastrulation
Disruption of this gene suppresses trans cyclopropanated mycolate without accumulation of trans-unsaturated oxygenated mycolates and shows an increased ability to form cords, thus establishing MmaA1 as a negative regulator of cording in M.tuberculosis
Small white lesions on the tips or margins of fully expanded leaves
Reduction in the number of class I crossovers (COs) during meiosis (PubMed:18812090, PubMed:21771883). Impaired fertility due to altered male and female meiosis (PubMed:18812090)
Essential, it cannot be deleted. Depletion experiments show decreased processing of furA-katG operon mRNA, altered processing of pre-16S rRNA, minor effects on pre-23S rRNA processing. A double rnj-rne depletion mutant has decreased amounts of mature 5S rRNA
Exhibits a reduced copper content and leads to cell decolorization due to lower laccase activity, when ctrA2 is also deleted
Erythroblasts generated from murine embryonic stem cells null for Slc25a37/Mfrn show maturation arrest with severely impaired incorporation of iron into heme
Embryonic lethal, with a few escapers that develop to first-instar larvae. In larval muscles the microtubule (MT) network is greatly reduced with a decrease in the number and length of MT fibers. RNAi-mediated knockdown in larval neurons and muscles results in a significant increase in roll-over time. RNAi-mediated knockdown in pre- and post-synaptic neurons results in increased branching number, increased bouton number and decreased bouton size at the neuromuscular junction (NMJ) synaptic terminals. Presynaptic knockdown also results in increased excitatory junction potentials (EJPs) and miniature excitatory junction potentials (mEJPs) of NMJ synapses, whereas knockdown in postsynaptic neurons has no effect on neurotransmission parameters
Cells constitutively synthesize MtsF
Homozygous knockout mice are viable, fertile, and display no obvious morphological abnormalities. However, they accumulate less zinc in cells and tissues and have a low body zinc status. This is associated with classic manifestations of dietary zinc deficiency, reduced food intake and poor growth. A decrease in body fat accumulation and reduced zinc absorption in the gut are observed
Worms show defects in asymmetric divisions in early embryos. In particular, mutations specifically affect the reestablishment of asymmetric PAR protein domains in the P1 cell at the 2-cell stage
Impaired embryonic development resulting in a profoundly reduced rate of larval hatching
Mice are grossly normal, except that they exhibit behavioral abnormalities when held upside down by the tail, and slight hematological defects
Knockout of the gene is embryonic lethal. Specific loss of the gene in erythroblasts is also lethal due to anemia
No colocalization of P-granule components with lgg-1 (PubMed:20550938). Furthermore, there is an accumulation of pgl-3 positive P-granules in somatic cells of embryos (PubMed:28806108). RNAi-mediated knockdown results in increased lgg-2-positive autophagosomes following fertilization and at later embryonic stages (PubMed:24374177)
No visible phenotype. Both male and female mice are viable. Skeletal features, joints, whole-body weights, organ weights, organ morphologies and the serum hyaluronic acid (HA) levels are normal. No evidence of glycosaminoglycan accumulation, including vacuolization, in tissues analyzed including liver, lung, kidney, spleen, skin, fat, testes and seminal vesicles at 12-14 months of age. No difference in tissue organization or connective tissue thickness. Only a subtle change in the alveolar structure and extracellular matrix thickness in lung tissue sections at 12-14 months of age. Lungs have larger alveoli and more areas of thickened interstitium. Lung tissues from 6 months old mice show more immature alveoli compared to wild-type (PubMed:18762256). Mice are fully fertile (PubMed:18762256, PubMed:20586096). Sperm show delayed cumulus penetration and reduced acrosomal exocytosis (PubMed:20586096)
Morpholino knockdown of the protein results in abnormal contractility and looping in developing heart. Morphants show prolonged duration of cardiac action potentials, occasional 2:1 atrioventricular block and slowed conduction velocity (PubMed:25281747)
Mutants have normal body morphology, but with reduced body length and width, delayed larval development and decreased roaming movements. Defective cilia structure and function
Deletion of the gene in combination with either surA or skp causes increased sensitivity to vancomycin and exacerbates the RpoE-dependent envelope stress response in a skp deletion strain (PubMed:24855643). Strains lacking the gene show a decreased survival rate at low pH (PubMed:25403562). Several cell envelope proteins are misfolded/mistargeted and turned-over in the absence of YfgM, including HdeB and AnsB (PubMed:25403562)
Impairs the production of fumonisins (PubMed:11728154, PubMed:15137825)
Viable, with no defects in coordination (PubMed:30407909). Decreased number of synaptic nicotinic acetylcholine receptors (nAChRs) at neuromuscular junctions (PubMed:30407909). Isoform a: Deletion leads to reduced sensitivity to the nAChR agonist levamisole (PubMed:30407909). Isoform b: Deletion leads to sensitivity to levamisole as in wild-type (PubMed:30407909)
Knockout mice present a general hypothyroidal state of the CNS, with reduced levels of both T3 and T4, and increased activity of the iodothyronine-deiodinase D2
Loss of [5-(3,4-dichlorophenyl)furan-2-yl]-piperidine-1-ylmethanethione- (DFPM-) induced root growth arrest and inhibition of stomatal closing mediated by abscisic acid (ABA)
Delayed flowering and increased levels of histone H2B monoubiquitination
Embryo lethality. Embryo development limited to the formation of a few giant cells lacking microtubules but not actin filaments. Failure to localize KNOLLE in mitotic cells. Giant nuclei and nucleoli found in both the embryo and endosperm tissue
In renal epithelial cells gene knockdown results in the formation of spheroids with architectural defects characterized by disturbed localization of beta-catenin (CTNNB1) at the basolateral membrane, fewer tight junctions and an irregular lumen (PubMed:20835237). SDCCAG8-deficient mice display developmental bone malformations with rib cage abnormalities
RNAi-mediated knockdown in the whole body or specifically in the germ line results in a decreased number of germinal stem cells (GSCs) in the testes (PubMed:26714316). RNAi-mediated in the testes results in mislocalization of microtubule-regulating protein Apc2 and shg/E-cadherin, defective centrosome orientation, mitotic spindle formation and chromosome segretation (PubMed:26714316). RNAi-mediated knockdown in male salivary glands increases male-specific gene expression on X chromosome and nuclear expression of roX1 and roX2, two long non-coding RNAs (lncRNAs) part of the males-specific lethal (MSL) complex (PubMed:34133927). Simultaneous RNAi-mediated knockdown of Mtor with RNAi-mediated knockdown of mof or the lncRNAs roX1 or roX2 in male salivary glands results in a rescue of up-regulated X chromosome gene expression (PubMed:34133927)
RNAi-mediated knockdown in female does not affect lifespan and basal melanization (PubMed:20953892). Simultaneous RNAi-mediated knockdown of SRPN2 and CLIPB9 in female, reduces the spontaneous melanization and the lifespan shortening occurring in SRPN2 RNAi-mediated knockdown (PubMed:20953892, PubMed:26926112)
No growth on vanillin and no vanillin dehydrogenase activity. Degrades ferulic acid in a similar way to wild-type. The deletion mutant produces higher vanillin concentration being provided ferulic acid for the synthesis of vanillin as the mutant is only very slowly oxidized to vanillate
Leads to poor growth under anaerobic conditions (PubMed:9171333). Does not produce detectable glycerol, is highly osmosensitive and fails to grow under anoxic conditions, when GPD1 is also deleted (PubMed:9171333)
Not essential even when cells grown in the presence of its inducers dichromate or cadmium
Disruption of this gene leads to lethality (PubMed:9405429) or to a very slow growth phenotype (PubMed:20729861). Required for the expression of poly-Pro-containing proteins
Loss of rhamnolipid production and of swarming mobility (PubMed:15126453)
Single deletion leads to an approximately 100-fold reduction in resistance to oxidative stress, deletion of 3 type IV toxin genes (cbtA, ykfI, ypfJ) leads to a slight reduction in resistance to oxidative stress, has no effect on cell growth
Cells lacking this gene are sensitive to oxidative stress and DNA damage at high temperature. They also exhibit filamentation
Essential for sporulation, decreases sporulation 100 to 1000-fold. Negative autoregulation by this gene product relies on DNA both upstream and downstream of the operon's promoter
Increased sensitivity to the beta-lactam antibiotic cefuroxime (CEF), upon overexpression of the c-di-AMP phosphodiesterase GdpP greatly increased sensitivity to CEF (PubMed:22211522). Double disA-cdaA mutants cannot be made, suggesting they are lethal, while double disA-cdaS and cdaA-cdaS mutants are viable (PubMed:22211522, PubMed:23192352). Depletion of cdaA in double disA-cdaA deletion cells leads to cell lysis (PubMed:22211522). Exponentially growing cells are extremely sensitive to H(2)O(2), no change in response to methyl methanesulfonate (PubMed:25616256)
Mice are viable and reach adulthood (PubMed:28809393, PubMed:29087293, PubMed:29033321). However, both male and female mice are infertile; male mice have smaller testes, and female mice have smaller ovaries and show progressive loss of germ cells (PubMed:28809393, PubMed:29087293, PubMed:29033321). Mutant germ cells enter meiosis but proceed prematurely to aberrant metaphase and apoptosis, and display defects in transitioning from spermatogonial to meiotic gene expression programs (PubMed:29087293, PubMed:29033321). Mutant testes reveal an up-regulation of N6-methyladenosine (m6A)-enriched transcripts (PubMed:29033321)
Reduction in respiration by about two-thirds, only when the electrons were fed into complex I via the NADH-linked substrates malate and glutamate in ADP-stimulated mitochondria
Strongly reduces production of fusaric acid (PubMed:25372119)
Reduced fertility, increased sensitivity to mitomycin C, and decreased levels of intrachromosomal recombination
Knockout animals have a progressive form of hearing loss at all frequencies. Hearing loss is moderate in young adult mice, progresses to severe deafness with age, and is associated with defects in stereocilia morphology. Stereocilia are shorter and narrower than those of wild-type mice
Mutant mice die early during embryonic development (PubMed:12527753). Heart-specific disruption causes cardiomyopathy in aging mice, characterized by dilated hearts that are insensitive to beta-adrenergic stimulation and impaired contractile performance (PubMed:23620051). Mutant cardiomyocytes display mitochondrial enlargement with respiratory impairment (PubMed:23620051)
Impairs the synthesis of anditomin but accumulates preandiloid B (PubMed:25216349)
Impaired central domain protoderm patterning defects, and defective cotyledon primordia cell types. Enhanced shoot growth, and male sterility due to defects in anther dehiscence and pollen maturation
Single deletion has no effect on expression of cognate toxin ypjF i.e. the probable operon is not autoregulatory (PubMed:28257056). Single deletion leads to increased biofilm formation, deletion of 3 type IV antitoxin genes (cbeA, yafW, yfjZ) has no effect on cell growth (PubMed:28257056)
Mutants are viable and fertile but about 30-percent of the progeny die at the embryonic stage. Surviving adults are mostly male (PubMed:22018922). Impaired chromosome pairing and synapsis during meiotic prophase. Asymmetric disassembly of the synaptonemal complex fails at the diplotene stage. Partial mis-segregation of chromosomes. Increased germline apoptosis (PubMed:22018922). Simultaneous knockdown of plk-1 and plk-2 causes a loss in pie-1 polarization in the 1-cell embryo, an increased association with the oocyte pronuclei and a decrease in pie-1 degradation in embryonic somatic cells (PubMed:18199581)
Mutation has minor effects on the ability to grow anaerobically. In contrast, narK1/narK2 double mutant is unable to grow anaerobically
Embryonic lethal with severely defective embryonic morphogenesis with no endoderm and excess mesoderm. In addition, embryos have defective mitotic spindle orientation in the 8-cell stage ABar blastomere
Plant shows a high temperature-dependent growth repression
A truncating mutation is the cause of the jinxed phenotype (jinx), a chemically-induced mutation that make mice susceptible to murine cytomegalovirus (MCMV). It is a mouse model of human type 3 familial hemophagocytic lymphohistiocytosis. Affected mice produce a truncated protein that lack the second of the C2 domains and part of the second MHD domain. In jinx homozygotes, activated NK cells and cytotoxic T-lymphocytes (CTLs) fail to degranulate, although they retain the ability to produce cytokines. Mice do not spontaneously develop clinical features of hemophagocytic lymphohistiocytosis (HLH), but do so when infected with lymphocytic choriomeningitis virus (LCMV), exhibiting hyperactivation of CTLs and antigen-presenting cells, and inadequate restriction of viral proliferation. In contrast, neither Listeria monocytogenes nor MCMV induce the syndrome
No export of mature cell wall protein GspB, a small amount of unprocessed protein is exported to the cell wall while the rest accumulates intracellularly, probably in a glycosylated form. Cells bind less well to platelets
Male mice are infertile with abnormal round-headed sperm morphology and no forward sperm motility
Cells lacking this gene accumulate N-demethylindolmycin and are unable to produce indolmycin
Locomotion is slower. Moderately resistant to paralysis induced by acetylcholine esterase inhibitor aldicarb but sensitivity to acetylcholine agonist levamisole is normal. Reduced both cholinergic and GABAergic motoneuron activities characterized by a reduction in miniature postsynaptic currents in muscles
Disruption of this gene seriously impairs growth under anaerobic conditions on D-tartrate when glycerol is supplied as an electron donor (D-tartrate fermentation). Cells lacking this gene also lose most (about 79%) of D-tartrate dehydratase activity
Cells exhibit slow growth, they do not aggregate upon starvation and form small plaques on bacterial lawns
Mice are viable and show no obvious developmental abnormalities. They have reduced male fertility due to defects in spermatogenesis in meiotic spermatocytes and during the maturation of postmeiotic haploid spermatids. Testes are defective in core histone replacement
Growth rate is increased in lithium chloride (PubMed:33256608). Calcofluor White sensitivity is background dependent (PubMed:9335584, PubMed:33256608)
Disruption causes the conversion of phenylacetate (PA) into 2-hydroxyphenylacetate (2-HPA)
Cells lacking this gene show an unusual large LL-diaminopimelic acid (LL-DAP) pool and an important variations of the LL-DAP/meso-DAP ratio incorporated in the peptidoglycan
Ectopic fruit organ initiation after floral meristem termination (PubMed:21705761). Enhanced disease resistance response to the bacterial pathogen Ralstonia solanacearum and to the biotrophic oomycete pathogen Hyaloperonospora arabidopsidis (PubMed:26990325)
Increased platelet account and deficiency in platelet alpha-granules associated with bleeding diathesis and decreases aggregate formation; reduction of mature ype-II multivesicular bodies (MVB II) in megakaryocytes
Inactivation results in a filamented cellular morphology, but not in a temperature-sensitive phenotype
Mutants show complete loss of extracellular exotoxin A secretion
No visible phenotype. Mutants are viable and fertile. Mice lacking both Numb and Numbl genes die around 9.5 dpc, with severe defects in somite and vasculature formation, neuronal tube closure and axial turning. Conditional double-knockout (cdKO) mutants (Numb and Numbl genes), with expression abrogated in neural progenitor cells from 8.5 dpc (just before the onset of neurogenesis), display a loss of neural progenitor cells formation and an overexpression of neurons as neurogenesis progresses; cdKO mutants become necrotic at 12.5 dpc and die around this stage. Conditional double-knockout (cdKO) mutants (Numb and Numbl genes), with expression abrogated in neural progenitor cells from 10.5 dpc (just after the onset of neurogenesis), display a premature depletion of neural progenitor cells in the dorsal forebrain ventrical zone of the neocortex and in the hippocampal CA fields as neurogenesis progresses; cdKO mutants are viable and fertile, but showed a reduction in the thickness of the neocortex and the hippocampus and an enlargement of the lateral ventricles. Tamoxifen-inducible double-knockout (cdKO) mutants (Numb and Numbl genes), with expression abrogated postnatally in the subventricular zone (SVZ) neuroprogenitors and in ependymal cells, display a loss of SVZ neuroblasts and show a disorganized ependyma lacking both interdigitation junction between neighboring cells and increasing number of separated cells
No visible phenotype. Triple-deficient mice (H1-2, H1-3 and H1-4) die by midgestation with a broad range of defects. These embryos have about 50% of the normal ratio of H1 to nucleosomes, demonstrating that critical levels of total H1 histones are essential for mouse embryogenesis
RNAi-mediated knockdown causes hyperfusion of embryonic epidermal cells (PubMed:15866168). RNAi-mediated knockdown suppresses hypoxia-induced cell death, and, in a mec-4 (u231) mutant background, neurodegeneration of touch-receptor neurons (PubMed:16005300)
Mice exhibit abnormal behaviors and increased 5-HT receptor 5B (Htr5b) mRNA levels in the dorsal raphe nuclei (PubMed:19893493). They also exhibit reduced adipose tissue mass, showing a role for ATF7 in adipocyte differentiation (PubMed:30826729). They develop severe ulceration and inflammation associated with increased epithelial apoptosis on dextran-sulfate sodium (DSS) exposure and were less able to regenerate colonic crypts on irradiation (PubMed:31294895). When combined with loss of ATF2, mice show even more epithelial damage in response to DSS (PubMed:31958521). In addition, loss of ATF7 leads to telomere shortening and chromosome instability (PubMed:29490055)
Mutant embryos show disrupted actin cytoskeleton and abnormal cell morphology (PubMed:11139338). The range of phenotypes includes head involution failure, dorsal closure, and germ-band retraction, as well as widespread ectopic apoptosis (PubMed:11139338)
Animals have normal retinal morphology and function at a young age but develop rod and cone dysfunction with increasing age
Leads to diminished MID2 O-mannosylation
When disrupted in a cellulose-synthesizing strain (a strain K12 / W3110 derivative called AR3110 with a restored, functional bcsQ gene), cellulose is no longer made and the rdar morphotype is lost (PubMed:24097954)
Disruption mutant is supersensitive to the arginine analog canavanine
Impairs TAFC-mediated iron uptake
Displays reduced climbing ability and die very soon after eclosion (PubMed:21750193). Loss of protein expression leads to truncated sensory cilia formation and impaired intraflagellar transport processes (PubMed:21750193). Simultaneous knockout of Cby and dila results in lack of motor coordination and absence of cilia in chordotonal neurons where centrioles fail to build a transition zone and Cep290 and Mks1 are mis-localized. Males are sterile: aberrant microtubule extensions, lack of ciliary cap and mislocalization of Mks1 and B9d1 to the basal body result in failure of axoneme formation and lack of mature sperm; sperm cysts fail to elongate whereas the overall size of the testes is not reduced (PubMed:27646273)
No visible phenotype. Mice lacking Ment are viable and have no overt fertility phenotype
Contradictory results have been described and may be due to differences in the methods used for gene disruption (PubMed:28978485, PubMed:29742426). No visible phenotype, mice are viable and fertile until adulthood (PubMed:28978485). However cultured hippocampal neurons from deficient mice shown a dramatic decrease in both amplitude and frequency of miniature inhibitory postsynaptic currents (mIPSC) (PubMed:28978485). In contrast, deficient mice exhibit profound impairment of inhibitory synapse formation, prominent motor behavioral deficits and premature death (PubMed:29742426)
Loss of pluripotency in both ICM and ES cells and differentiated into extraembryonic (parietal and visceral) endoderm lineage
Mice are born at the expected Mendelian rate and have no apparent morphological abnormalities. In response to long-term fructose consumption, they develop exacerbated hepatic steatosis associated with massive urinary fructose excretion and increased hepatic triglyceride levels
No visible phenotype, but slower growth
Deletion of the gene has no effect on bacterial replication in the amoeba A.castellani
RNAi-mediated knockdown reduces stored lipid droplet hydrolysis during fasting resulting in retained/increased lipid droplets and there are also increased lipid droplets in the fed state (PubMed:24120942, PubMed:25202121). Suppresses fasting-induced oxygen consumption (PubMed:25202121). RNAi-mediated knockdown abrogates the increased fat loss and increased oxygen consumption rate observed in the hlh-11 ok2944 mutant (PubMed:33078707). RNAi-mediated knockdown also abrogates the increased fat loss observed following overexpression of flp-7 (PubMed:28128367, PubMed:33078707). Furthermore, RNAi-mediated knockdown reduces the induction of hsp-60, an indicator of mitochondrial stress following overexpression of either flp-7 or hlh-11 (PubMed:33078707). RNAi-mediated knockdown in aak-2 mutants improves the survival of dauer larvae (PubMed:19052547). RNAi-mediated knockdown in daf-2 constitutive dauer phase mutants results in enlarged lipid droplets possibly due to an accumulation of unhydrolyzed triglycerides (PubMed:26098762)
Disruption reduces the cholesterol oxidation activity at least 90-fold
During adult neurogenesis in hippocampus, increased numbers of granule cells maturing into neurons, larger granule cell layers and increased numbers of granule cells
Deletion mutant mice show a number of skeletal defects, including small ears, several reduced vertebral processes, and a reduced number of ribs and sesamoid bones (PubMed:7958439). BMP5/7-deficient mice lack midbrain dopaminergic neurons due to reduced neurogenesis in the midbrain dopaminergic progenitor domain (PubMed:29321139)
Sporozoite attachment to the substrate is normal but sporozoite uninterrupted circular movement is impaired (PubMed:32866196). No effect on cell traversal but reduces invasion of host hepatocytes (PubMed:32866196). Reduces merosome release from infected host hepatocytes (PubMed:32866196). Infection of mice with knockout merosomes causes a severe delay in host erythrocytes infection without affecting the asexual replication in host erythrocytes (PubMed:32866196)
Embryonically lethal. Embryos suffer loss of nuclear structure and of a continuous nuclear membrane. baf-1 is delocalized to the chromatin. At permissive temperature (15 degrees Celsius) about 30% of the embryos die, and the survivors appear normal
The mortality of mutant animals is increased at birth and most die within 3 days. The few surviving neonates show growth retardation, but they catch up with wild-type mice by 20 weeks of age
3- to 20-fold derepression of several genes coding for small proteins including the ycgZ-ymgA-ariR-ymgC operon. While the BluR/F system is induced at low temperatures under blue light irradiation, it is not essential for growth under these conditions. When both lon and bluR are disrupted, levels of OmpF decrease, leading to lower drug susceptibility, with a greater effect at 26 degrees than at 37 degrees Celsius. The mechanism is not yet understood
Knockout mice develop cataracts from 16 months of age with defects such as ulcer-like anomalies in the cornea, and opacity in the lens cortex or wider lens. Decreased muscle strength, however clasping ability is unaffected (PubMed:25757569). Impaired spatial memory retrieval and learning (PubMed:27734846). Reduced branching of hippocampal neurites and increased fragmentation of neuromuscular junctions (PubMed:27734846). APBB1 and APBB2 double knockout mice show progressive retinal lens disruption from 1 month of age, morphologically lenses show massive vacuolization, lens capsule rupture and disruption of the lens fiber cells organization. Decreased muscle strength, however clasping ability is unaffected (PubMed:25757569, PubMed:27734846). Defects in peripheral motor function including balance and coordination, reduced environmental anxiety, reduced hippocampal basal synaptic transmission and synaptic plasticity (PubMed:27734846)
Delayed wilting symptoms in response to Ralstonia solanacearum and, by contrast, acceleration of disease progression during Botrytis cinerea infection, suggesting that this phosphatase plays differential functions in biotrophic versus necrotrophic pathogen-induced responses. Prolonged MPK3 and MPK6 activation during ozone treatment
RNAi-mediated knockout of the protein results in a stay-green leaf phenotype. No effect on seed degreening; probably due to redundancy with SGR1. Sgr1 and sgr2 double mutant has an embryo stay-green phenotype
Enhanced sensitivity to UV radiation accompanied by an increased mutation frequency. Shorter root and stem growth
Dwarf, narrow leaf, low tillering, abnormal hull, viviparous and low fertility phenotype
Reduces expression of ycgZ in the presence but not the absence of BluR. At 16 degrees Celsius, reduces expression of genes (including ycgZ) for several small proteins. While the BluR/F system is induced at low temperatures under blue light irradiation, it is not essential for growth under these conditions
Hua2 mutations enhance the phenotype of mild ag-4 and elf4 alleles and also induce early flowering by reducing the expression of several MADS genes that act as floral repressors like FLC, FLM/MAF1, MAF2 and SVP
Lower leaf ascorbate concentration with accumulation of L-galactose when grown under high light conditions
Morpholino knockdown of the protein leads to abnormal craniofacial and vertebrate development with shortened and twisted torsos, smaller eyes and low mouth positions at 3 days post-fertilization (dpf)
Plants lacking both CRC and CYP40/SQN exhibit strong floral meristem (FM) indeterminacy with reiterations of extra floral whorls in the center of the flower associated with reduced AGAMOUS and SUPERMAN levels
Highly sensible to fluoride. Growth is inhibited at a 200-fold lower fluoride concentration than in the wild-type
Thymocyte development in mice lacking CD3D is arrested at the double-positive stage with markedly diminished TCR expression. Thymocytes are defective in the induction of ERK pathway upon TCR engagement, whereas activation of other MAP kinases is unaffected
Female infertility due to a block early in fertilization. Oocytes undergo premature zona pellucida hardening
Cells lacking this gene are not able to convert salicylate to gentisate
Loss-of-function mutations impair the root gravitropic response, lead to an increased sensitivity to ethylene and auxin transport inhibitors, and give rise to an auxin accumulation in root tips
Mice exhibit a strong increase in self-grooming behavior, defective social behavior, and some sensorimotor defects (PubMed:25631124, PubMed:29752066). Aged mice show decreases in age-related neuronal loss and increases in synaptic density in the substantia nigra and the hippocampus (PubMed:30548312). They also exhibit a decrease in the connectivity between the retrosplenial cortices, subiculum, hippocampus and anterior cingulate, as a result of defective synaptic growth thus impairing their function (PubMed:29752066)
Fails to produce tenellin, and accumulates pretenellin B (PubMed:19067514). Leads also to the accumulation of pyridovericin (PubMed:34903054)
Cells lacking this gene accumulate pupylated proteins. These cells also become hypersensitive to reactive nitrogen intermediates (RNI) and are severely attenuated in both wild-type and nitric oxide synthase 2 deficient mice. Moreover, they display increased resistance to hydrogen peroxide
Mutants lacking this gene display a significant colonization defect in an infant mouse intestine colonization assay (PubMed:26000450). Mutants show a decrease in vpsL expression and are deficient in biofilm formation (PubMed:28607158). Deletion of the gene results in a 4.4-fold reduction in vxrA expression and a 134.8-fold reduction in survival following penicillin G treatment compared to those of the wild type (PubMed:33753465)
No visible phenotype (PubMed:25825937). A number of gain-of-function mutations, such as alopecia and excoriation (AE), bareskin (Bsk), defolliculated (Dfl), finnegan (Fgn) reduced coat 2 (Rco2), Rex-denuded (Re-den) and recombination induced mutation 3 (Rim3), have been identified: they cause progressive hair loss (alopecia) accompanied with hyperkeratosis and chronic skin inflammation (PubMed:15475261, PubMed:15737203, PubMed:17572385, PubMed:22155111). Gain-of-function mutations cause bulge stem cell depletion, leading to skin inflammation and alopecia (PubMed:22155111). Mice lacking Gsdma, Gsdma2 and Gsdma3 are highly susceptible to subcutaneous group A Streptococcus (GAS) infection in an animal model (PubMed:35545676)
Altered electrophysiological synaptic activity, with increased frequency of miniature excitatory postsynaptic currents
Abolishes riboflavin uptake, cell growth less inhibited by roseoflavin, a toxic riboflavin analog
Mice exhibit significant increases in body weight, muscle mass, muscle fiber number, muscle fiber diameter and myotube formation and an acceleration of skeletal muscle regeneration
No longer responds to changes in hemin, decreased removal of 1-phosphate from lipid A species. Accumulates bi-phosphorylated pentaacyl and tetraacyl 1-phosphate lipid A species. Lipopolysaccharide (LPS) from this strain is a mild inducer of the human innate immune response via Toll-like receptor 4 (TLR4) in cultured HEK293 cells; double lpxE-lpxF mutants are more potent than either single mutant. No change in resistance to the cationic antimicrobial peptide (CAMP) polymyxin B. Double lpxE-lpxF mutants accumulate multiple mono- and bi-phosphorylated lipid A species (PubMed:19552698). Unable to colonize rabbit periodontium, a model for periodontal disease (PubMed:24478080)
No visible phenotype. Mutant mice develop normally, have a normal life span, and their muscle capacity does not significantly differ from wild-type animals, even after prolonged physical stress
The lag homozygous mutant mice that lack detectable Kif14 expression are indistinguishable from normal littermates at birth. At P10, mutants exhibit an overt ataxic phenotype that increased in severity over time. At P12, lag homozygous mutant mice are unable to stand for 10 s on a narrow platform. Their gait is wide and uncoordinated, and they frequently fell on their backs while walking. These defects in voluntary movement control, posture and balance are accompanied by progressive weakness and failure to gain body weight. By P14, the homozygous mutants in a litter could be identified by their small size and uncontrolled movements. The homozygous mutants all died by P21. The lag homozygous mutant mice also display a flathead, a reduction in brain size, slender optic nerves, and a translucent spinal cord
Deletion of both erg4A and erg4B results in fluffy colonies with severely impaired conidiation and increased susceptibility to antifungal azoles itraconazole and voriconazole, but does not affect virulence (PubMed:27986720). The double deletion leads also to the loss of ergosterol production and accumulation of the ergosta-5,7,22,24(28)-tetraenol precursor (PubMed:27986720)
Cells lacking this gene show no defect in their capacity of forming biofilms
Death early in development. Embryos cease development following implantation or initiate but fail to complete gastrulation
Mice develop symptoms of the autoimmune disease systemic lupus erythematosus, characterized by high titers of anti-nuclear autoantibodies (ANA) directed against nucleosomes and double-stranded DNA, the deposition of immune complexes in glomeruli and full-blown glomerulonephritis (PubMed:10835632). Mice lacking both Dnase1 and Dnase1l3 show vascular occlusions following bacterial infection: defects are caused by the formation of intravascular neutrophil extracellular traps (NETs) clots that obstruct blood vessels and cause organ damage (PubMed:29191910)
Deletion of the gene has no detectable effect on expression of the srfA operon
Causes a mild defect in aerobic growth on CuSO(4), strongly impairs survival during anaerobic growth on CuSO(4)
No visible phenotype, but decreased reduced ascorbate content in leaves and decreased xanthophyll cycle for heat dissipation of excessive energy in photosynthesis
Shows increase in the cell surface expression or half-life of MHC class II. Null cells have accumulated MHC class II and CD86 at the cell surface and a low antigen-presenting ability for exogenous antigens, in conventional dendritic cells (PubMed:19917682). Null cells have high antigen-presenting ability for exogenous antigens in B-cells (PubMed:17255932)
Flies are defective in producing fertilized eggs. Egg chambers exhibit abnormal accumulation of F-actin
Normal seedling germination and plant growth and development in standard conditions, despite an abnormal accumulation in the roots of uridine and of other pyrimidine metabolites as well as of xanthosine, but no accumulation of inosine (PubMed:21599668). Accelerated senescence accompanied by marked accumulation of uridine and xanthosine under conditions of prolonged darkness leading to pale green/yellow plants due to increased chlorophyll degradation (PubMed:21235647). The roots of the double mutant urh1 urh2 accumulates strong levels of xanthosine (PubMed:21599668, PubMed:30787180)
Inactivation of the mmpL8 gene interrupts the normal biosynthesis of SL-1 and leads to the accumulation of the precursor SL1278
Leads to the loss of gibberellins production accumulates ent-kaurenoic acid but not later intermediates (PubMed:9917370, PubMed:11320210)
RNAi-mediated knockdown disrupts tail tip morphogenesis resulting in retention of the pointed larval tail tip in adult males (also known as the Lep phenotype) (PubMed:21408209). RNAi-mediated knockdown in distal tip cells (DTC) causes additional turns during their migration (PubMed:19023419). RNAi-mediated knockdown in addition, causes a truncation of excretory canals associated with the formation of cysts and a reduced distribution of Golgi and ER components along the excretory canal length (PubMed:25743393). RNAi-mediated knockdown results in defective endocytosis by oocytes characterized by an accumulation of aggregated yolk protein in the pseudocoelomatic space, and accumulation of endocytic cargo protein mig-14 in late endosomes and expansion of recycling endosomes that express toca-1 and toca-2 (PubMed:19798448, PubMed:25775511). RNAi-mediated knockdown enhances the axon guidance defects in glia and sublateral neurons of the kpc-1 gk mutant, in which non-commissural interneurons AIY fail to extend dorsally and enter the nerve ring (PubMed:28846083)
Mice display increased inflammation in response to M.luteus infection, impaired digestion of M.luteus cell walls, decreased clearance of P.aeruginosa from infected airways, increased susceptibility to K.pneumoniae infection and increased bacterial burden and mortality following infection with various Gram-negative bacteria. Lyz2 is non-immunogenic in wild-type mice but is rendered immunogenic in mutants
Bacteria lacking the N-terminus of CcsB are able to grow anaerobically but not aerobically, suggesting its function is essential for aerobic growth. In these bacteria reduced amounts of some holo-c-type cytochromes are observed (cytochrome f and cytochrome c550); unprocessed precursor apocytochrome f accumulates but is not thought to be integrated into the cytochrome b6-f complex. Holo-cytochrome c553 (also known as cytochrome c6) does not accumulate however
Reduced DNA methylation at RdDM target loci and pleiotropic developmental phenotype
Mutants fail to form proper multicellular aggregates, to differentiate from rod-shaped cells to environmentally resistant spores and to express development-specific genes
Mice display embryonic lethality at E3.5 due to failure of embryos to implant
Mutants completely lose the chemotactic response towards leucine, isoleucine, valine, methionine and cysteine, but they still respond to arginine
Eggs and embryos exhibit variable alterations along the dorsal-ventral and anterior-posterior axes. There is a reduction in the level of meiotic recombination and an increase in the frequency of non-disjunction. Larvae have increased sensitivity to ionizing radiation and MMS
Morpholino knockdown of the protein results in reduced head and eye size, a ventrally curved body, and enlarged brain vesicles. In the craniofacial cartilage, the ceratobranchial arches are reduced. Formation of ceratohyal cartilage is disrupted with an abnormal angle relative to wild-type. Morphogenesis of the developing neural tube is abnormal, with a smaller angle between the walls of the hindbrain neuroepithelium at 24 hours post-fertilization (hpf) and in some cases a partial opening in the dorsal region. Some deformation of the midbrain walls is also found. Retinal development is significantly delayed; no retinal ganglion cells (RGCs) are detected at 30 hpf and reduced numbers are found at 60 hpf. RGCs also appear to be mislocalized. In about a third of embryos, three instead of two otoliths are detected in the inner ear. Cilium length in Kupffer's vesicle is significantly reduced. Cilia in the olfactory placode also appear to be fewer in number and have reduced length. Double morpholino knockdown of marcksl1a and marckls1b results in a more pronounced developmental delay in the retina. Double morpholino knockdown of marcksb and marcksl1b results in retinal morphogenesis defects of increased severity. The optic cup structure is not apparent, and very few atoh7-positive retinal ganglion cell precursors are detected. Double morpholino knockdown of marcksb and marcksl1b also results in more severe defects in neural tube morphology, with partial duplications of the neural tube in the hindbrain region
Mice lacking Alx1 die within 24 hours of birth. The overt phenotype is acrania and degeneration of unprotected brain tissues. This is most probably the cause of the death since no other abnormality in limbs and visceral tissues is observed. The defect in cranial bone formation may be a consequence of extensive loss of forebrain head mesenchyme due to cell death and neural tube closure defects earlier during development. The penetrance of the acrania/meroanencephaly phenotype is variable between mice strains. Heterozygous mice appear normal and fertile
Not lethal, but spores germinate with delayed kinetics and this lag corresponds to a delay in the G1-phase activation of the cyclin-dependent kinase nimX. Does not activate cmkB
Reduced lignin content, reddish-brown coloration of panicles and internodes, and golden yellow seeds
Decreased apoptosis in infected macrophages, characterized by reduced CASP3, CASP8 ans CASP9 caspase activity
Flies fail to pigment the adult cuticle and larval mouth parts and show reduced level of locomotor activity and male competitive mating ability
Mice are viable, anatomically normal and reach adulthood but display impaired fertility resulting from apoptosis that affects meiotic metaphase-stage spermatocytes (PubMed:23177736, PubMed:29279410). Testes are significantly smaller and histological analysis of testis sections reveal aberrant tubular architecture and size (PubMed:23177736, PubMed:29279410). The number of spermatozoa released from cauda epididymes is dramatically reduced, and the spermatozoa are morphologically abnormal with greatly compromised motility (PubMed:23177736). Male mice display increased m6A in mRNAs in spermatocytes, leading to aberrant splicing and production of shorter transcripts that are rapidly degraded (PubMed:29279410)
Strong dwarf phenotype and pleiotropic developmental defects affecting all organs (PubMed:29740464). Reduced endogenous levels of auxin (PubMed:29740464)
Mice die shortly after birth. They display neural tube and skeletal defects. The neuroepithelium is disorganized and the formation of dorsal root ganglia is defective, likely as a result of an increased frequency of apoptosis and aberrant migration of neuronal cells. The extension of nerve fibers in the spinal cord is also abnormal
Embryonic lethality in the peri-implantation stage (between dpc 4.5 and dpc 8.5) (PubMed:26527618). Conditional deletion in the erythroid lineage is not lethal and does not lead to defects in the hematopoietic pathway (PubMed:34180713). Mice lacking Pcbp1 and Pcbp2 in the erythroid lineage die at midgestation; lethality is caused by impaired erythroid development and loss of blood formation (PubMed:34180713)
Not essential for growth on defined medium, loss of NMN amidohydrolase activity
Not able to grow photoautotrophically in soil. Pale green, slow growth and no bolting. No appressed grana in chloroplasts
Displays a host of morphogenetic defects, including abnormal embryogenesis, partially deetiolated development in the dark, a severely dwarfed phenotype when grown in the light, and infertility
Cells lacking this gene accumulate DH-IDR and DH-BABR
Deficient mice have growth retardation, skeletal abnormalities. They are sexually immature, develop cataracts, and have coats with a gray cast. Most die between 10 and 18 weeks. They cannot break down GSH into its constituent amino acids as it passes through the proximal tubules of the kidney. They excrete large amounts of GSH in their urine, leading to a fatal cysteine deficiency
No visible phenotype; due to the redundancy with ICS2. Nevertheless salicylic acid accumulation upon induction is severely impaired. Ics1 and ics2 double mutant is seedling lethal due to photosynthetic lesions induced by the lack of phylloquinone
Mice display pseudohypoaldosteronism type II (PHA2)-like phenotype, such as salt-sensitive hypertension (PubMed:28052936). In kidney, increased level of Wnk1 and Wnk4 kinases is observed, while Wnk1 and Wnk4 levels are unchanged in other tissues (PubMed:28052936)
Morphant embryos show morphological anomalies including dorsal curvature and bent tails, severe muscle disorganization, early motor defects, and mitochondrial abnormalities
Mice do not synthesize N-glycolylneuraminic acid (Neu5Gc)
RNAi-mediated knockdown results in ectopic expression of the homeobox protein egl-5 in the head region (PubMed:17574230). RNAi-mediated knockdown results in ectopic expression of tbx-2 in the gut and seam cells of L4 stage larvae and adults (PubMed:23933492)
Decreased dimethylsulfonioproprionate (DMSP) catabolism
Mice show defects in behavioral rhythms with an extremely long-period activity phenotype. The onset of active phase is abnormally delayed from the light-to-dark transition: in constant darkness (DD), mice show significantly longer rhythmic activities. Mice lacking both Fbxl3 and Fbxl21 show an attenuated phenotype in behavioral rhythm compared to Fbxl3-deficient mice; however, they exhibit unstable behavioral rhythms, sometimes eliciting arrhythmicity
LYSET knockout mice display increased lysosomal enzyme serum levels and storage materials in lysosomes. In addition, LYSET KO embryonic fibroblasts are resistant to infection by EBOV glycoprotein (VSV-EBOV)
Not essential. No teichoic acid in cell walls
No visible phenotype, but loss of processing of glyoxysomal precursor proteins. Increased resistance to the herbicide precursor 4-(2,4-dichlorophenoxy) butyric acid (2,4-DB) and to the inhibitory effects of indole-3-butyric acid (IBA) on root elongation
Deletion mutant shows longer pili but their number is reduced
Developmental defects of pistils, some being bent or coiled or twisted, and some showing unfused carpels with exposed ovules (PubMed:29139551). The vcc-3 deal2-1 double mutant shows leaf asymmetry (PubMed:29139551). The vcc-3 deal2-1 deal3-1 triple mutant shows a strong leaf asymmetry (PubMed:29139551)
Slight increase in nonphotochemical quenching (NPQ). Marked decrease in the accumulation of LFNR1 and LFNR2-containing thylakoid protein complexes
Large and misshapen chloroplasts with distorted and irregular outlines
Death at the preimplantation stage. Embryos display normal cell proliferation but mitotic progression is severely defective during embryonic cleavage with multipolar spindles and misaligned chromosomes frequently observed
Defective alternative splicing of the unc-60 gene which results in decreased expression of the muscle-specific isoform of unc-60 (PubMed:23071450). Double knockout with isoform c of unc-60 rescues the motility and actin filament disorganization defects in the single unc-60 isoform c mutant (PubMed:23071450). RNAi-mediated knockdown results animals that are viable throughout embryonic and larval development, and furthermore, results in defective alternative splicing of the let-2 gene, whereby transcripts containing exon 10 are not formed in larvae and so the muscle-specific isoform of let-2 is not expressed in body wall muscles (PubMed:18230701). RNAi-mediated knockdown results in abnormal ectopic expression of the non-muscle-specific isoform b of unc-60 in body wall muscles (PubMed:23071450)
Enhanced root growth, photosynthesis and water use efficiency (WUE) under salt stress
No visible phenotype in male mice, but female mice show reduced fertility and produce at most one to three pups per litter (PubMed:12447394). Female mice display defects in asymmetric spindle positioning, asymmetric cell division and polar body extrusion during oocyte meiosis (PubMed:12447394). During early pregnancy, females present normal numbers of implantation sites, but only very few normal-looking embryos (PubMed:12447394). Most of the embryos show developmental delays and gross morphological defects, leading to embryonic death (PubMed:12447394)
Fish lacking cdk20 are viable during embryogenesis and early larval stages, but exhibit curvature of the body axis and curled cilia in distal kidney tubules
Cells lacking this gene do not produce mycinamicin I, mycinamicin II and mycinamicin V, and accumulate mycinamicin IV
Decreases the production of beauvericin (PubMed:27750383)
No visible phenotype under normal growth conditions, but plants contain reduced levels of aliphatic glucosinolates
No visible phenotype. Slightly reduced production of reactive oxygen species (ROS) (PubMed:23658066). Alterations in germination and in early seedling growth. Enhanced sensibility to abscisic acid (ABA) with elevated levels of Ins(1,4,5)P3 (PubMed:17237190)
Reduced levels of seedling establishment associated with altered cotyledon photosynthetic performance at the onset of phototrophic growth and prior to the development of true leaves. These phenotypes are reversed in high CO(2) or sucrose supplemented conditions. Decreased resistance against avirulent bacteria. In plants lacking both BCA1 and BCA4, impaired CO(2)-regulation of stomatal movements associated with reduced beta carbonic anhydrase activity in guard cells, and increased stomatal density
Defective activation of the ribosome quality control (RQC) pathway (PubMed:28757607). Mildly defective ribosome stalling induced by RNA arrest sequences (PubMed:28223409). Sensitive to anisomycin (stalls ribosomes in the rotated state) (PubMed:28757607)
Embryonic lethality, due to severe cardiovascular defects causing whole body edema and severe bleeding due to vessel rupture. Embryos show defects in the septation of the heart outflow tract. Their cardiomyocytes are round and fail to align in a parallel manner. Blood vessels are frequently enlarged and show numerous microaneurisms. Besides, blood vessels show abnormal constrictions and increased vascular sprouting. Vascular mural cells and pericytes display a rounded shape and impaired adhesion to the underlying vascular endothelium. Cells display highly dynamic formation of membrane ruffles with increased random motility, but impaired chemotaxis
No effect on the regulation of core clock associated genes, but shorter hypocotyl length and higher freezing tolerance. Rve1 and rve2 double mutant has no alteration in the period or phase of the clock. Rve1, rve2 and rve7 triple mutant has no alteration in the period or phase of the clock
No visible phenotype. Triple mutants tom20-2-tom20-3-tom20-4 are vible but display a slightly delayed flowering time
Inactivation renders cells sensitive to DNA damage. Deletion of both ligA and ligN is lethal
Zebrafish mutants are significantly shorter than their wild-type counterparts. Mutants have craniofacial defects with a smaller jaw, smaller inner ears, slightly smaller eyes, and stubby pectoral fins. They exhibit malformation of the inner ear, with abnormally shaped semicircular canals. Mechanosensory hair cells in the inner ear and neuromasts have reduced numbers of hair bundles. Response to auditory stimuli is greatly reduced. Animals show defects in proteoglycan secretion and reduced collagen COL1A2 expression in fins, but normal collagen type II expression in the jaw. Golgi apparatus structure is disrupted in mutant cells, with defects in the processing of N- and O-linked glycans and decreased glycosphingolipid complexity
Dwarf, narrow leaf, low fertility and small grain phenotypes
Mice show decreased spindles and sleep fragmentation, learning defects, hyper-aggressive behavior and motor defects. Selective deletion in the thalamic reticular nucleus (TRN) leads to attention deficits and hyperactivity. Defects are probably due to dcreased TRN activity through mechanisms involving small conductance calcium-dependent potassium currents (SK)
Decreased number of lateral roots
Early leaf senescence. Strong reduction in total sterol esters content in leaves and seeds. No change in flowers
Mice lacking Srf in cardiac tissue display lethal cardiac defects between 10.5 and 13.5 dpc, characterized by abnormally thin myocardium, dilated cardiac chambers, poor trabeculation and a disorganised interventricular septum
Mutant shows the same motility as wild-type strain
Cells lacking this gene are devoid of catalase activity, supersensitive to H(2)O(2) exposure and highly resistant to the antitubercular drug isoniazid (INH) in vitro. This mutant strain is markedly attenuated for virulence in mice and displays impaired growth in infected macrophages, but its growth and survival is indistinguishable from wild-type in macrophages lacking the ROS-generating NADPH oxidase (Phox)
Embryonic lethal (PubMed:20675571, PubMed:25452667). Increased tolerance to iron deprivation (PubMed:20675571, PubMed:25794933, PubMed:27359166). Over-accumulation of iron ions in phloems, rosette leaves, flowers and seeds. In normal conditions, at the late reproductive stage, aborted siliques and abnormal necrotic lesions in cauline leaves (PubMed:25794933). Increased root elongation, rhizosphere acidification, and iron reductase activity under iron deficiency (PubMed:25452667, PubMed:27359166)
Individuals display a number of developmental defects, including dorsalization and formation of ectopic tail
Deletion of any 2 genes encoded in this operon (mamC, mamD, mamF and mamG) decreases crystal size regardless of the protein combination. Deletion of the mamGFDC operon leads to smaller magnetite crystals in irregularly spaced chains, but no other phenotype (PubMed:17965152). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Loss of glucokinase activity, no growth phenotype on glucose, fructose, maltose, sucrose or trehalose-containing minimal media
Embryonic death
Females show no impaired oogenesis but display a defect in the formation of primordial follicles leading to infertility. Most embryos arrested at the 2-cell stage and fail to complete the second round of DNA replication due to an insufficient supply of histone H3 and H4. Accumulation of histone H2A and H2B is not affected
Mutant worms are morphologically similar to the wild-type but exhibit mild swimming defects and are lethargic when crawling on a food-free environment with their movement being interrupted by frequent pauses. Worms paralyze in the presence of exogenous betaine. Simultaneous knockdown of snf-3 and egl-8 results in uncoordinated, hypercontracted and paralyzed animals
RNAi-mediated knockdown results in smaller, but normally-proportioned animals that are paler and thinner as compared to wild-type, a reduced growth rate, slow movements with a 35% decrease in the number of body bends per 20 seconds, reduced brood size, increased lifespan and inceased sensitivity to the oxidative stress inducer paraquat (PubMed:22253756). RNAi-mediated knockdown results in increased lifespan (PubMed:22253756, PubMed:25769692)
Impairs the production of acetylaranotin and of the cyclo-L-Phe-L-Phe intermediate (PubMed:23586797)
Animals develop normal corticospinal tract and raphespinal tract. Mutants show greater axonal growth and functional recovery after central nervous system trauma (PubMed:26203138). Knockout mice have normal cardiac form and function but show augmented hypertrophy and reactivation of the fetal gene program in response to stress compared to wild-type littermates (PubMed:19875726)
TRIM59-deficiency causes early embryonic lethality. Affects th expression of gastrulation-associated genes during early embryonic development
Changes ergosterol plasma membrane constitution and distribution and presents an increased resistance to azoles. Impairs the development of hyphae, adhesion, to invasion, and formation of biofilms, all of which are significant virulence factors
Unable to use arginine or ornithine as nitrogen source. Displays sensitivity against type II non-host pathogen infection
No visible phenotype. Lysates from total brain and optic nerve (a pure white matter tract) display a selective decrease of Ttc7a and Efr3a protein levels
Disruption of this gene has no effect on vegetative growth but causes a sporulation defect, characterized by heat-sensitive spores devoid of DPA, which can be cured by supplementation with dipicolinate
Perinatal lethality, with cleft palate, as well as hypoplasia and bending of many skeletal structures derived from cartilage precursors (PubMed:11371614). Heterozygous mice die shortly after birth and display skeletal malformations caused by impaired precartilaginous condensations (PubMed:11371614). In embryonic day 12.5 dpc heterozygotes embryos, skeletal elements are smaller (PubMed:11371614, PubMed:11857796). In 14.5 dpc heterozygous embryos, bending of radius, ulna and tibia cartilages is already prominent (PubMed:11371614). Premature mineralization is observed in many bones, including vertebrae and some craniofacial bones in 18.5 dpc heterozygous embryos (PubMed:11371614). Conditional deletion in undifferentiated mesenchymal cells of limb buds before mesenchymal condensations results in a complete absence of both cartilage and bone, while markers for the different axes of limb development show a normal pattern of expression (PubMed:12414734). Conditional deletion in undifferentiated mesenchymal cells of limb buds after chondrogenic mesenchymal condensations causes a severe generalized chondrodysplasia, in which most prechondrocytes are arrested as condensed mesenchymal cells and do not undergo overt differentiation into chondrocytes (PubMed:12414734). Conditional deletion in differentiated growth plate chondrocytes results in severe dwarfism caused by shortened columnar zones in growth plates, leading to an absence of chondrocyte enlargement (PubMed:22421045). Conditional deletion in epithelial cells leads to severe branching defects in the lung (PubMed:24191021)
No visible phenotype under normal growth conditions, but mutant plants exhibit enhanced susceptibility to the bacterial virulent pathogen Pseudomonas syringae pv tomato strain DC3000
Impairs the ability to produce 1233A and 1233B
Resistance to sordarin
Surprisingly, does not show changed sensitivity to amines and does not lead to depletion of ergosterol
Increased efficiency of energy transfer from phycobilisomes to photosystem II (PSII) relative to photosystem I (PSI), decreased PSII/PSI ratio, content of phycobilisomes is increased (PubMed:10585546). Normal growth under 50 umol photons/m(2)/s, slow growth and slight bleaching under high light (400 umol photons/m(2)/s). Under high light, decreased chlorophyll content and overall oxygen evolution, no significant changes in transcription of genes involved in photosynthesis or high light inducible polypeptides (PubMed:23024802). Poor growth in light/dark cycles, especially under mixotrophic conditions, no growth on glucose in the dark after 12 days (chemoheterotrophic growth). Reduced phycocyanin to chlorophyll ratio. Altered expression of about 300 genes, including ncRNAs (PubMed:30216574)
Deletion of the gene produces selective loss of phthiocerol dimycocerosates (PDIMs)
Double deletion of phaA and phaB leads to loss of synthesis of PHB, no visible growth phenotype
About 50% reduction of binding to immobilized human fibronectin. Greatly reduced mortality in mice (tested with encapsulated strain D39)
Suppresses partially the ENF1 disruption pleiotropic developmental phenotypes
Results in dramatic reduction in MPA production and leads to the accumulation of DHMP
No degradation of trans-translationally tagged-peptides (PubMed:11395451, PubMed:31155236). Triple rqcH clpP ssrA mutants cannot be generated (ssrA, or tmRNA, encodes the SsrA tag added to nascent proteins in stalled ribosomes by trans-translation, targeting the nascent protein for degradation) (PubMed:31155236)
RNAi-mediated knockdown results in 100% embryonic lethality (PubMed:15146185, PubMed:16802858). Any survivors display a paralyzed uncoordinated phenotype, body morphology defects and sometimes a vulval defect (PubMed:15146185). RNAi-mediated knockdown results in chromosome segregation defects in early embryos with lagging chromosomes at the anaphase phase of mitosis (PubMed:16802858). RNAi-mediated knockdown results in cytological defects in the pachytene and diakinesis phases of meiosis in the germline (PubMed:21856158). RNAi-mediated knockdown abolishes loading of cohesin complex components smc-1, smc-3 and rec-8 onto the to the axial element of meiotic chromosomes in the germline, however these subunits do accumulate in the mitotic nuclei and the meiotic S phase nuclei that precede the start of meiotic prophase (PubMed:21856158). RNAi-mediated knockdown results in defective DNA double-strand break repair during meiosis resulting in an accumulation of rad-51-positive recombination intermediates and elongated rad-51-positive recombination structures in the mid and late pachytene region of the germline (PubMed:21856158). There is an increase in apoptosis in response to the accumulation of recombination intermediates, but only in the presence of smc-1, indicative of a defective DNA damage response (PubMed:21856158)
In the eye, axonal targeting of the R1-R6, R7 and R8 cells appears to be normal. Double knockouts of bdl and tutl rescue the R7 axonal tiling defect of tutl mutants. Double knockouts of bdl and Lar partly rescue the R7 axonal targeting defect of Lar mutants
When both copies of this protein are deleted cells have a weak magnetic response and make magnetosome membranes; the magnetosomes are less numerous and smaller. Deletion of just amb0973 leads to an intermediate magnetic response and still makes magnetosome membranes (PubMed:20212111). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
In the male tail, ray precursor cells show altered fates. Conical sensory ray 6 is absent as it appears to fuse with ray 4. Males show reduced body length and uncoordinated movement in a backwards locomotion. Hermaphrodites produce a reduced brood size due to a decreased number of laid eggs
Severe developmental defects in both vegetative and reproductive organs resulting in sterile flowers. Hypersensitivity to methylmethane sulfonate (MMS). Longer telomeres
Pleiotropic effects (PubMed:22474332). Under aerobic conditions no growth on succinate, 90% reduction of succinate dehydrogenase (SDH) activity, no incorporation of FAD into SDH, however the SHD enzyme complex forms stably, more SdhA is incorporated into the membrane (PubMed:22474332, PubMed:24070374). Decreased aerobic growth rate in rich medium (LB) (PubMed:22474332, PubMed:23657679). Partial growth defect during anaerobic growth on glycerol fumarate medium; greatly decreased incorporation of FAD into FDR (PubMed:24374335). During aerobic growth 50% decreased synthesis of prodigiosin antibiotic, decreased transcription of flavoprotein desaturase PigA (PubMed:22474332). During aerobic growth decreased production of cellulase and pectin lyase, reduced swimming motility, reduced virulence in potato infection assays, reduced N-acyl homoserine lacton production, abolition of beta-lactam antibiotic synthesis (PubMed:22474332)
No visible phenotype under normal growth conditions, but germinating seeds have greatly reduced basal thermotolerance and are unable to acquire thermotolerance (PubMed:10760305, PubMed:11489180). Faster degradation of HSA32 (at protein level) (PubMed:23439916)
Deletion of the gene results in increased susceptibility to different antibiotics, dyes, detergents and disinfectants
Cells lacking this gene do not grow in presence of arginine as sole nitrogen source
Single deletion, grows on D-serine, D-serine plus glycerol and D-alanine. A double dsdX-cycA deletion grows in D-serine plus glycerol, but not D-serine or D-alanine alone, growth on D-serine (but not D-alanine) is restored by dsdX, while growth on both D-alanine and D-serine is restored by cycA. Double dsdX-cycA deletion cannot take up D-serine
Cells lacking this gene show no difference in growth under copper deprivation or copper excess conditions
Inactivation of the gene blocks the Ipa invasin secretory pathway and severely attenuates virulence
Seedling growth arrest phenotype. Impaired central lytic vacuole formation, autophagosomes accumulation, and mis-sorting of vacuolar protein cargo to the intercellular space as well as disturbed endocytosis
Impairs the production of monodictyphenone and of any of the intermediates of the pathway (PubMed:20139316, PubMed:21351751)
Displays no resistance to potyvirus. Possesses reduced amounts of chlorophyll a and b. I4g1 and i4g2 double mutants show reduced germination rates, slow growth rates, moderate chlorosis, late flowering, impaired fertility and reduced long term seed viability. They also exhibit altered responses to dehydration, salinity, and heat stress. The i4g1 and i4g2 double mutant has reduced amounts of chlorophyll a and b
Leads to increased sensitivity to terbinafine, 4-nitroquinoline N-oxide, and ethidium bromide (PubMed:16849730). Leads to a reduction in infecting activity, characterized by low growth on human nails (PubMed:19141731). Impairs the MDR4 induction when the fungus is challenged with amphotericin B or terbinafine (PubMed:27121717)
Seedling lethal, even with Suc as a carbon source. Impaired thylakoid formation in the initial process of chloroplast development leading to albino seedlings unable to grow photoautotrophically. Reduced plastid-encoded RNA polymerase (PEP) activity
Impairs growth in absence of mevalonate
Cells develop normally and show no evident defects. Still, these cells seem to be at a selective growth disadvantage
Null cells are still capable of osmoregulation and do not show any noticeable differences in their sensitivity to hypotonic conditions. Quintuple p2xA/p2xB/p2xC/p2xD/p2xE null cells display slight delay in their osmoregulatory response, but are still capable of regulating their cell volume in water. Extracellular purinergic response to ATP persists in the quintuple null cells and p2xD single null strains with no alteration in the kinetics of the response, but the magnitude of the response is lower. Responses to the calmodulin antagonist calmidazolium are reduced and intracellular calcium signaling is disrupted in quintuple null cells. The presence of copper prevented both wild type and quintuple null cells from undergoing an osmoregulatory decrease in cell volume. No obvious morphological phenotype was apparent in the p2xD or quintuple p2x null strains. Null cells grow and are also able to develop normally upon starvation to form fruiting bodies. The quintuple null strain however did grow slightly slower than wild type in shaking axenic cultures
Cells lacking this gene grow less well than wild-type under conditions of high aeration
RNAi-mediated knockdown in late spermatogonia to early spermatocytes affects spermiogenesis and results in reduced male fertility. Sperm nuclei are long and needle-shaped due to the elongation of their chromatin region. No effect on the replacement of histones by protamines in the chromatin of sperm during the haploid phase of spermatogenesis
Reduces both natural plasmid transformation and competitive fitness in long-term culture
Leads to hypersensitivity to calcofluor white (CFW)
Fully viable without obvious effects in the nervous system or reproductive organs (PubMed:18066048). Sperm transfer and storage in the females is not affected and egg fertilization and development is normal (PubMed:18066048). However, females lay fewer eggs, mate again at high frequency and do not reject a second male after mating (PubMed:18066048). Male and female flies display reduced overall sleep duration associated with shorter sleep-bout lengths, although the number of sleep-bouts is not affected (PubMed:25333796). Sleep recovery following sleep deprivation is also impaired (PubMed:25333796)
Morpholino knockdown of the protein causes in larvae causes high levels of lethality
Knockdown of this gene leads to cessation of growth and shorter misshapen cells. Accummulation of trehalose monomycolate (TMM) and lack of trehalose dimycolate (TDM). Accumulates MSMEG_5308 protein
Significantly reduces the expression of clustering genes involved in the biosynthesis of aflatoxin resulting in a subsequent significant decrease in aflatoxin production (PubMed:35080432). Produces relatively sparse conidia and a very small number of sclerotia (PubMed:35080432). Affects also the expression of genes involved in spore germination, sclerotial development, and carbohydrate metabolism (PubMed:35080432). Does not affect the biosynthesis of cyclopiazonic acid (CPA) (PubMed:35080432)
Cells lacking amoB1 grow more slowly than wild-type cells, while cells lacking amoB2 grow at rates similar to wild-type
Leads to defects in biofilm architecture
Deletion causes severe growth defect in various conditions, such as nutrient starvation in defined media, metal depletion and excess, and oxidative stress
Embryo lethality. Embryos arrested at the globular stage, no cellularization of endosperm nuclei and enlargment of many nuclei and nucleoli resulting in a titan-like phenotype
In murine lung infection model, mutants cause severe inflammatory responses, with increased pro-inflammatory cytokine production levels. Colonization is greatly reduced
Mutants can be recognized on day 2 of embryogenesis by the presence of necrotic cells in the tectum and eyes. Dye mutants die on day 5 of development
Female sterile. Extends fruit fly median life-span by up to 48% in homozygotes and 36% in heterozygotes
Embryonic lethal at 12.5 dpc. Mice exhibit impaired angiogenesis and dysregulated neuroepithelial development
Flies exhibit disruption of the early stages of photoreceptor cell determination, adult eyes lack the R7 cell
Seedlings lethality. Severe vacuole biogenesis defects
RNAi-mediated knockdown does not affect vulva development. Does not suppress ectopic vulva formation in a let-60 (n1046) gain-of-function mutant background
When compared with a nadB mutant (with blocked de novo NAD biosynthesis route), the nadB-niaP double mutant requires at least a 200-fold higher niacin concentration for normal growth
A triple bsdB-bsdC-bsdD deletion mutant no longer converts vanillin to guaiacol, the conversion stops at vanillic acid
Cells lacking this gene are unable to produce dimethylsulphide (DMS)
Impaired egg laying; the few laid eggs are at the post comma stage. Impaired locomotion
Does not lead to growth defects or changes in developmental patterns and does not affect sensitivity to itraconazole, amphotericin B, voriconazole, posaconazole, ravuconazole, or echinocandins
Mice display perinatal lethality and display gross morphological defects in outgrowing tissues. They are truncated caudally, displaying loss of the tail and a significant shortening of the anterior-posterior axis. The shape of the head is abnormal with truncated snout, mandible and tongue and reduced outgrowth of the external ear. Fore- and hindlimbs lack digits, the genital tubercle is missing and chondrocyte differentiation is inhibited
Cannot be deleted in the presence of an intact sigF gene, a double sigF-nrsF mutant is viable
No visible phenotype (PubMed:18329370, PubMed:19752223). In the small intestine mucosa and under steady-state conditions, severe reduction in the number of intraepithelial CD4+ CD8+ T-cells and, partial reduction in the number of lamina propria and intraepithelial CD8+ and CD4+ T-cells (PubMed:24687959). In intestinal CD4+ T-cells, expression of gut-retention molecules Itgae/CD103 and Cd69, and gut-homing molecule Ccr9 is reduced (PubMed:24687959). Development of lymphocytes and myeloid cells is normal (PubMed:18329370, PubMed:19752223). However, in older mice, the number of CD4+ and CD8+ T-cells is increased in lymph nodes and blood (PubMed:18329370). Susceptible to oral infection with bacterium C.rodentium resulting in higher bacteria load in the colon and spleen (PubMed:18329370). However, in another study, the mice were not susceptible to oral infection with bacterium C.rodentium (PubMed:24687959). Impaired immune response following intranasal infection with influenza virus caused by a decrease in the number of antigen-specific CD8+ T-cells in the infected lung (PubMed:19752223). However, the capacity of CD8+ T-cells to kill infected cells is not affected (PubMed:19752223). Increased resistance to oral infection with intracellular parasite T.gondii caused by a reduced number of IL17-producing CD4+ T-cells resulting in enhanced clearance of the parasite (PubMed:24687959)
RNAi-mediated knockdown in SIFa-expressing neurons causes normal male sexual activity towards virgin females but also vigorous courtship directed at other males and also leads to female hyper-receptivity with a dramatic decrease in copulation time (PubMed:17126293). It also causes reduced sleep and shortened sleep bout length (PubMed:24658384)
Long etiolated hypocotyls. Reduced accumulation and cell-to-cell movement of Turnip mosaic virus (TuMV) leading to an enhanced plant resistance
No anaerobic growth on glycerol fumarate medium
A strain lacking this gene does not induce most genes of the dormancy regulon, due to polar effects on the downstream devR (dosR) gene. Restoration of induction only occurs when both this gene and devR (dosR) are transformed into the deleted strain
The imaginal disks of third instar larvae are dramatically decreased in size (PubMed:17890365). Overall larval size is unaffected (PubMed:17890365)
Pale yellow-green embryos arrested at mature cotyledon steps
Shorter body length and reduced serotinin-induced egg laying as compared to wild-type (PubMed:27871170). Reduced calcium responses in AFD neurons upon a temperature increase from 16 to 20 degrees Celsius as compared to wild-type. At 17 degrees Celsius displays thermophilic behavior, preferentially migrating towards hotter regions (PubMed:26232604). RNAi-mediated knockdown results in an increase in lifespan (PubMed:21331044, PubMed:23805378). Also causes nuclear exclusion of crtc-1 (PubMed:21331044)
Deletion mutant is unable to produce PTT when grown in MYG broth supplemented with 0.5 mM phosphonoformate
In pituitary absent (pia) mutants, adenohypophyseal cells fail to express hormone genes and some become apoptotic
Larval mutants exhibit altered cell transcription with reduced levels of Pol I-dependent rRNA biogenesis and, to a certain extent, of III-dependent transcription leading to reduced growth (PubMed:21752937, PubMed:29065309). Displays delayed pupation kinetics and reduced pupal volume (PubMed:29065309). Exhibits reduced number of germline cells leading to fertility defects; female flies have limited fertility, whereas male flies are sterile (PubMed:21752937). In male larvae, germ cells can enter differentiation but spermatogenic cysts cannot develop normally (PubMed:21752937). Adult testes shows fewer hub-proximal germ cells, lack of Stat92e activation and general failure of germline stem cells (GSC) maintenance (PubMed:21752937). RNAi-mediated knockdown in the posterior compartment of the developing wing leads to reduced compartment size (PubMed:29065309). RNAi-mediated knockdown in the fat body results in delayed larval development and reduced pupal volume (PubMed:29065309)
Cells lacking this gene grow as the wild-type in complex medium and in synthetic medium with glucose as sole carbon and energy source, but the mutant cells are not capable of swarming and have severe defects in forming biofilms
RNAi-mediated knockdown results in the appearance of abnormal vacuoles in the intestines and defective recycling of endocytic cargo with the accumulation of cargo within abnormal early endosomes
Slight reduction in seed pterin aldehyde reductase activity, especially at low temperature
Abnormal cuticle and unusual lipidic cytoplasmatic inclusions in epidermal cells associated with a reduced secretion of aldehydes, alcohols and acids (PubMed:17951461, PubMed:26965486). The double mutant abcg11 abcg12 exhibits ABCG12-containing membrane inclusions protruded into the vacuole and contiguous with the endoplasmic reticulum (PubMed:20870961). Reduced polarizing on the adaxial and abaxial leaves surfaces, and impaired impact of viral infection by Turnip vein clearing virus (TVCV) on the polarization of reflected light leading to high light reflections; this phenotype is not visible upon viral infection by Cucumber mosaic virus (CMV) (PubMed:28346494)
No visible phenotype under normal growth conditions, but mutant plants have reduced sensitivity to BR and enhanced sensitivity to BR biosynthetic inhibitor brassinazole (BRZ)
Cells are resistant to rapamycin and display reduced TOR signaling
Deletion of the gene produces a wild type colony morphology and an attachment level around 60% of wild type
Abolishes the production of arthrobotrisins A to D and arthrosporol A, and accumulates m-cresol (PubMed:27723963, PubMed:33823587). Lead to altered growth rates and causes significant decreases in the spore formation and germination (PubMed:27723963, PubMed:33823587). Shows significantly increased ammonia levels in fungal mycelia (PubMed:33823587)
Essential gene. Reduced assembly of 60S ribosomes and accumulation of halfmer polyribosomes
Prevents assimilation of glycerol and fails to induce expression of glycerol dehydrogenase gld1 on glycerol medium (PubMed:22140232). Leads to diminished mating efficiency (PubMed:22375066)
Deletion of the gene abrogates lyso-ornithine lipid and ornithine lipid synthesis. It does not affect resistance to bactericidal peptides or permeability of the outer membrane. Does not influence pro-inflammatory responses or the ability to multiply intracellularly and generate chronic infections
In germlines, increases transposable elements transcription at both mRNA and protein levels (PubMed:26124316). Results in male sterility: male testes are morphologically normal but no mature sperm is formed (PubMed:30824860). Results in defective meiosis and spermatid individualization during spermatogenesis (PubMed:30824860)
Sympathetic ganglia-specific conditional knockout mice lead to a reduction in sympathetic ganglia size and in progenitor cell number, but does not alter sympathetic innervation of peripheral target organs
Cells lacking this gene show a decreased lactate transport ability
Mutants display ethylene-treated phenotypes, resulting in plants with small, unexpanded leaves and whose seed cotyledon growth is impaired
The deletion of the gene results in an attenuation of bacterial virulence in different infection models in species as diverse as C.elegans, E.foetida or the insects A.bipunctata and C.carnae (PubMed:31511598). Mutants have general chemotaxis defects (PubMed:12142407). Mutant shows decreased aerotaxis (PubMed:14987771). Aerotaxis is abolished in the aer-mcpB double mutant (PubMed:14987771)
Albino phenotype leading to lethality
Deletion of the whole MAF1 locus (which includes all a and b paralogs) causes a loss in tachyzoite parasitophorous vacuole association with host mitochondria (HMA) upon host infection without causing any significant growth defect to the parasite (PubMed:24781109, PubMed:28567444). Prevents the formation of SPOTs (structures positive for outer mitochondrial membrane (OMM)) (PubMed:35025629). Partially impairs the reduction in mitochondrial protein abundance caused by infection; specifically, prevents the loss of MFN1, MFN2 and MIRO2 proteins (PubMed:35025629). Intraperitoneal infection of C57BL/6J mice with knockout tachyzoites results in similar mouse lethality and parasite burden compared to infection with wild type parasite (PubMed:24781109). However, levels of several cytokines and chemokines, including IL4 and CCL11/eotaxin from mouse peritoneal exudate cells (PECs) is reduced (PubMed:24781109)
No visible phenotype. When associated with SUN2 disruption, abnormal nuclear shape, rounded instead of elongated, in some cells (e.g. mature root hairs) but also numerous meiotic defects namely a delay in the progression of meiosis, absence of full synapsis and a reduction in the mean cell chiasma frequency
RNAi-mediated knockdown results in increased death in response to the environmental toxicant methylmercury (PubMed:24266639). Furthermore, in response to methylmercury, RNAi-mediated knockdown results in the accumulation of the methylmercury in cells, the subsequent increase of gst-1, hsp-4, hsp-6, and hsp-16.1 gene expression, and in dopamine (DA) motor neuron degeneration (PubMed:24266639)
Morpholino knockdown results in early embryonic mortality between 3 to 5 days post fertilization. Causes a reduction in size with an abnormal dorsal curvature through the back and tail. Impaired motor function characterized by a delay in chorion hatching and a reduced motility. Some animals have pericardial edema. Defects in skeletal muscles including sarcomeric disorganization often with central nucleation and triad disorganization. In skeletal muscles, increased phosphatidylinositol 3-phosphate levels and severe reduction of mtm1 levels without affecting mtm1 subcellular localization. Double morpholino knockdown of mtmr12 and mtm1 results in a more severe phenotype
Reduced number of leaves at flowering time in long day conditions
Decreased transcription of fabA, low to no change in levels of fabB (PubMed:11859088, PubMed:21276098). Up-regulation of genes involved in beta-oxidation (fatty acid degradation, at least fadA, fadB, fadE, fadH, fadI and fadJ) (PubMed:11859088). Increased levels of fatty acids; double fadR-fabR deletions have the same phenotype, suggesting a functional fadR gene is required for fabR function (PubMed:11859088)
Embryonic lethality. Embryo development arrested at the globular stage
Mutant flies display a highly irregular eye pattern, with ommatidia improperly oriented and occasionally fused. Most of these ommatidia contain extra cells that resemble R7 photoreceptor cell, characterized by small rhabdomere diameter, a central position in the distal half of the retina and expression of the R7-specific rhodopsin Rh4. The extra R7 cells are derived from cone cell precursors. In mutant wing, an additional longitudinal vein branches off the posterior crossvein, the wing veins widen at their junctions with the wing margins and wing vein material is found in between the longitudinal veins
Deletion mutant shows reduced growth in Sauton's minimal media and is highly sensitive to SDS and copper when grown on solid media (PubMed:23562345). Reduced growth in acidic media (pH 5.5) and under hypoxic conditions, with decreased survival in hypoxia (PubMed:26768127). In vitro, the mutant is attenuated for growth in PMA-activated THP-1 (human) cells (PubMed:23562345). Mutant is extremely resistant to copper and shows increased growth in vivo (PubMed:24549843). In vivo infected guinea pigs exhibited a considerably attenuated infection, and a few animals cleared the infection (PubMed:26768127)
Cells result in higher prestimulus and persistent stimulation erkB phosphorylation upon cAMP stimulation, display strong defects in motility, and more rapid cAMP production. Cells fail to display aggregates, fruiting bodies, fail to form territorial streams and are defective in cell migration (absence of random and directional migration) and in chemotaxis
Cells lacking this gene are more sensitive to peroxide stress. The acnAB double mutant does not grow on unsupplemented glucose minimal medium and does not respond under aerobic conditions to glutamate. The acnAB double mutant retains a low but significant aconitase activity
Elongated and curled downward leaves. Upon infection, over-accumulation of cucumber mosaic virus (CMV) RNA and enhanced susceptibility to CMV
Mutant seedlings show increased sensitivity to salt stress and abscisic acid (ABA)
Loses mitochondrial DNA with high frequency
Viable, but have fewer colony-forming units compared to wild-type. Cells are very heterogeneously sized and misshapen, and have a notable amount of cellular debris. Loss of cell division. No effect on Z1 ring formation. FtsZ1/FtsZ2 double deletion mutant cells show various division defects, including fragmentation, budding, polar tubulation and fission resulting in DNA-containing particles, which are able to remain viable and propagate without regular cell division
Morphological change from tubular conformation to circular conformation of beaded filament structures in retinal lens epithelium, potentially due to loss of contacts with surrounding intermediate filaments (PubMed:27559293). BFSP2 and VIM double knockout mice show a complete loss of cytoplasmic cytoskeleton in retinal lens fiber cells (PubMed:15037121)
Knockout mice display increased longevity compared with the cohoused wild-type littermates. Almost all mutant mice remain alive, whereas most of the wild-type mice (>80%) di after 2 years on standard chow. Mutant body weights are lower than those of wild-type. Gut tissues of wild-type mice show slight inflammation whereas mutant mouse gut tissues do not. The gut tissues of mutant mice are more yellow and the colon tissues are thinner in mutant mice than in WT mice and the ceca are enlarged significantly (PubMed:26776522). They show lower expression of cytokines such as TNF, ILB, IL6, IFNG, IL17 and IL12 in the gut tissues (PubMed:26776522). Mice are resistant to dextran sodium sulfate (DSS)-induced colitis and colon cancer (PubMed:26776522). They have fewer and smaller gut tissue-associated lymph node Peyer plaques compared with cohoused wild-type mice with fewer adaptive immune cells that have accumulated in their gut immune systems (PubMed:26776522). Mutants show reduced expression of several chemokines, including CCL6, CCL9, CXCL9, and CXCL10 (PubMed:26776522). They also show an altered gut microbiota and reduced expression of REGs (PubMed:26776522). Mutants are more susceptible to uropathogenic Escherichia coli infections (PubMed:25026888)
In response to intranasal administration of IL33, lung inflammation is reduced compared to wild-type and is associated with low infiltration by inflammatory cells, especially granulocytes, a severe reduction in Th2-type cytokine secretion, including Il4, Il5 and Il13 in bronchial alveolar fluids, and reduced up-regulation of Il6, Csf3, Cxcl2 and Ccl5 mRNAs
Cells lacking this gene have a low level of coenzyme Q8 in aerobic conditions, and accumulate a compound derived from the Q biosynthetic pathway which was identified as 3-octaprenyl-4-hydroxyphenol. When grown anaerobically, they have a content of Q8 comparable with that in wild-type cells and do not accumulate 3-octaprenyl-4-hydroxyphenol. The levels of the isoprenoid naphthoquinones, demethylmenaquinone and menaquinone (MK8) are not affected in the deletion mutant under aerobic conditions
Males show reduced testicular size and a tubular defects, which led to severe oligozoospermia and infertility. Spermatocytes are eliminated via apoptosis either at the pachytene checkpoint, or later at the spindle checkpoint during metaphase I
Normal growth on non-fermentable carbon sources (ethanol and glycerol)
Exhibits hypersensitivity to salt and slight hypersensitivity to glucose abscisic acid (ABA)
Leads to reduced growth and decreased conidiation during iron starvation, but not during iron-replete conditions (PubMed:26960149). Showed a reddish pigmentation of mycelia during iron-depleted conditions probably due to the accumulation of iron-free precursors of heme (PubMed:26960149). Results in a lacking activation of the siderophore biosynthesis genes sidA and sidC during iron starvation and in a decreased production of extracellular ferrichrome C, but not ferricrocin (PubMed:26960149). Results also in complete deregulation of genes from iron-dependent pathways such as vacuolar iron storage, amino acid metabolism, respiration and heme biosynthesis during iron limitation (PubMed:26960149)
Cells lacking this gene show decreased methylglyoxal tolerance. A double deletion mutant lacking both gloC and gloB exhibits almost no resistance to exogenously supplied methylglyoxal, and is unable to grow at MG concentrations as low as 0.1 mM
Chlorophyll deficiency and seedling lethality when grown under normal light or low light
Branchiomotor neurons exhibit reduced axonal outgrowth and aberrant positioning of neuronal cell bodies. Outgrowth of motor axons from the spinal cord is impaired, the number and length of spinal motor neurons is reduced, and elevated levels of apoptosis are observed in the CNS. Thickened bundles of axonal microtubules are observed in the spinal cord. Longitudinal fascicles in the hindbrain are disordered. Most embryos are immotile and fail to hatch, while those that do exhibit reduced motility and swimming defects. Morpholino knockdown results in abnormal morphological features, including hydrocephalia, perturbed yolk sac extension and an arched-back phenotype, disorganized microtubule networks in the spinal cord and thinner microtubules in the spinal motor neuron axons, and in increased oxidative stress (PubMed:26744324). These phenotypes are rescued following exposure to the drugs methylene blue, guanabenz, salubrinal or phenazine (PubMed:26744324)
Delayed senescence accompanied by a small delay in flowering time
Essential, it cannot be deleted (PubMed:9755166, PubMed:24239291). When depleted for ClpX cells arrest before the initiation of chromosome replication and are blocked in the cell division process (PubMed:9755166). In depletion experiments ClpX protein starts to decline after about 4 hours, which coincides with cell filamention and a 1000-fold loss of viability by 12 hours; SocB protein accumulates. Deletion of socB permits slower than wild-type growth of the clpX disruption
Defects in meiotic progression
Lethal. Embryonic fibroblasts cells are resistant to oncogenic transformation induced by oncogenic receptor tyrosine kinases (RTKs), are unable to differentiate into adipocytes and deficient in cellular signaling in response to various growth factors. Defective responsiveness to insulin led to reduced somatic growth, hyperinsulinemia, glucose intolerance, hyperphagia and increased adiposity
Completely abolishes the production of patulin and shows significant slower colony expansion (PubMed:25625822, PubMed:30680886). Leads to only marginal expression of the patulin gene cluster (PubMed:25625822)
Dwarf plants due to significant reduction in cell number (PubMed:20444225). Dwarf plants due to significant reduction in cell elongation (PubMed:21325138). This phenotype can be rescued by exogenous gibberellic acid (GA3) treatment (PubMed:21325138). Reduced mechanical strength (brittleness) due to an alteration in cellulose microfibril orientation and wall composition (PubMed:20444225)
Leads to the accumulation of the prenylated benzyl alcohols produced by fogH
No growth defect (PubMed:15513918). However, slight decrease in proliferation and slight increase in doubling time during the asexual blood stage in an amino acid-limited medium (PubMed:15513918)
Disruption of the gene has no effect on nodulation
Knockout mice have defects in the organization of mitochondria during spermiogenesis, leading to sperm malformation and male subfertility (PubMed:24599962). Genetic loss of DDHD1 leads to substantial reductions in polyunsaturated lysophospholipids in the brain, and reduced mechanical, but not thermal nociception (PubMed:30221923)
Worms either arrest during embryonic development, or show vulval eversion at the L4 stage and burst at the vulva during the L4-to-adult molt (PubMed:10993680). Those who survive to the adult stage display severe abnormalities in the structure of alae (PubMed:10993680). RNAi-mediated knockdown results in severe male tail tip defects (PubMed:21408209)
Survive to adulthood, but bred poorly and display reduced fertility. Failed to form any vessel occlusion after chemical-induced carotid injury. Platelets have defective aggregation. Bone marrow-derived macrophages are defective in actin polymerization during phagocytosis. PIP5K1A and PIP5K1C double mutant mice are embryonic lethal
Perinatal lethality and dorsal lobe of the pancreas fails to develop (PubMed:10471502). Reduction in the size of the islets of Langerhans, probably as a result of fewer beta-cells (PubMed:10471502). Additional ectopic V2 interneurons (V2-INs) at all axial levels of the spinal cord; phenotype exacerbated in an LMO4 mutant background (PubMed:18539116). Genes typically expressed in V2-INs expressed ectopically in motor neurons (MNs); phenotype exacerbated in an LMO4 mutant background (PubMed:18539116). Abnormal guidance of motor axons in an LMO4 mutant background (PubMed:18539116)
RNAi-mediated knockdown causes a severe decrease in survival upon treatment with oxidants including juglone, paraquat and to a lesser extent, cumen and tert-butylhydroperoxide (tBOOH). Enhances further the production of gamma-glutamylycysteine and glutathione disulfide upon juglone treatment. Increases gst-4 and gcs-1 expression. Reduces lifespan (PubMed:23593298). RNAi-mediated knockdown in a trxr-1 mutant background causes an arrest during larval molting characterized by a partial detachment of the old cuticle and an impaired ability to reduce cuticle components (PubMed:21199936)
Eggs are retained in the body as normal during starvation but the number of eggs laid during the initial refeeding period is reduced and satiety-induced suppression of pharyngeal pumping is slower than wild-type
Retains the ability to produce MPA, albeit with an about 50% lower yield, and accumulates 2 compounds (MFDHMP-d4 and MFDHMP-d5) with an even shorter isoprenyl chain than MPA
Defects in apical extracellular matrix. Embryos show defects in the formation of the innermost layer of the apical extracellular matrix and its attachment to the epidermis. Most larvae die during second-instar or second/third-instar interface, but some survive until early third-instar. Surviving larvae display cuticle defect and irregular tracheal morphology. Ultrastructural analysis of larval epidermis reveals disruption of the deposition zone of the endocuticle, leading to separation of the epidermis from the chitin layers
Morpholino knockdown of atoh8 causes two phenotypes. The severe phenotype displays a shrunken head, reduced eye size and fused somites and most embryos die within 3 days. The mild phenotype displays an abnormal brain shape with smaller eyes, a curved body axis with indistinct somite boundaries and frequently reduced or no circulation. In addition, the yolk extension is hardly visible starting at the beginning of tail straightening from the 17-somite stage
Adipose tissue-specific knockout mice adapted to 30 degrees Celsius show no difference in body weight or white adipose tissue (WAT) mass but have reduced brown adipose tissue (BAT) weight relative to their wild-type littermates. BAT loses its distinctive reddish color. In contrast to wild-type mice, which activate thermogenesis and preserve body temperature when exposed to cold (4 degrees Celsius), mutants rapidly become hypothermic and die if not rescued. They have a total heme content reduced of about 60%. Mutants housed at room temperature and fed a high-fat diet (HFD) show no differences in body weight or composition, except for decreased BAT mass. However, they have higher fasting glycaemia and decreased glucose tolerance and insulin sensitivity. They also exhibit hyperlipidaemia and exacerbated liver steatosis with about 70% more triglycerides (PubMed:31748741). Conditional knockout from female reproductive tissues results in postimplantation embryonic death leading to subfertility, with female mice producing 47% fewer pups/litter than wild-types. They undergo premature reproductive senescence by parities 2 to 5, producing 37.8% fewer litters overall during the trial compared with wild-types (PubMed:28005395). Double conditional knockout for PGRMC1 and PGRMC2 from female reproductive tissues results in postimplantation embryonic death leading to subfertility, with female mice producing fewer pups/litter than wild-types. They undergo premature reproductive senescence, producing fewer litters overall during the trial compared with wild-types (PubMed:28005395)
Mutant mice show primary ciliary dyskinesia defects such as hydrocephalus and laterality defects and die within 5 weeks of birth. The morphology of mutant motile cilia is normal, but their motility is completely lost. The 9 + 2 arrangement of microtubules remain normal in mutants, but the outer dynein arms (ODAs) is absent from the cilia
Plasmid transformation is still inhibited
Slight defects in seed mucilage extrusion (PubMed:21362134, PubMed:21402796). Ectopic expression of AGAMOUS, leading to the replacement of sepals by carpels and stamens and of petals by stamens (PubMed:15277686). Wide and serrated vegetative leaf lamina, narrow cauline leaves, large palisade cells and reduced fertility (PubMed:15208345). In plants lacking both LUG and LUH, embryo lethality and abnormal flowers (PubMed:18390806). Enhance the polarity and growth defects of fil yab3 and luh/+ lug mutant leaves, being partially abaxialized (PubMed:19837869)
Embryo lethality due to development arrest at the globular stage with defects in the formation of the embryonic root, the protoderm, and procambium (PubMed:16169895). Increased cell sizes, anthocyanin accumulation, reduced growth rate, reduced fertility, decreased heat shock tolerance, increased oxidative stress tolerance (PubMed:19605416). Mutant displays enhanced susceptibility to the fungal pathogen G. cichoracearum and to virulent and avirulent bacterial Pto DC3000 strains, which indicated defects in basal defense and resistance (R) protein-mediated defense (PubMed:22577987)
Abolishes the production of pestheic acid and RES-1214-1, but accumulates isosulochrin and chloroisosulochrin (PubMed:24302702)
In a catalase/peroxidase-deficient (Hpx(-)) background, yaaA deletion mutants grow poorly and form filaments in aerobic medium. Mutants show higher levels of DNA damage and polypeptide damage during H(2)O(2) stress. They also have an unusually high level of intracellular unincorporated iron
Lethality typically occurs several days after birth, associated with motor neuron deficiency and paresis
Death between 10 and 12 dpf. Thymus size is remarkably reduced and the pharyngeal arches are malformed. Eyes and swim bladder are also reduced
Leads to an almost complete absence of calbistrin A and calbistrin C, and a decreased abundance of decumbenone A, B and C in the extracellular medium
Reduces the amounts of DHMDA produced
Morpholino knockdown of the protein causes reduced brain and eye size and curved tails at 48 hpf
Loss of cell aggregation and PIA production
A hipA or a hipB-hipA operon deletion have no visible phenotype (PubMed:20616060). Initially cells lacking hipA or the hipBA operon were thought not to produce persister cells at a high frequency; this was later shown to be a strain-specific phenotype (PubMed:8021189). A hipA or a hipB-hipA operon deletion show decreased biofilm production in the absence of antibiotics (PubMed:23329678)
No obvious phenotypic change is observed
No visible phenotype. Embryo lethal when associated with disruption mutants SUN4 and SUN5
Strongly repressed swarming and swimming
Mice develop perinatal cerebral hemorrhage and porencephaly. The mutant protein inhibits the secretion of mutant and normal proteins into the basement membrane of embryonic origin. The mutation is semidominant
Cells lacking this gene are unable to produce PIM and show an increase of phosphatidyl-myo-inositol (PI)
No visible phenotype under normal growth conditions, but starch of mutant plants contains high levels of C3-bound phosphate
Abnormalities in body size, abnormal development of the central nervous system, adaxial mesoderm, cartilage and pectoral fins, and reduced expression of ptc1 and foxa2/axial with most mutant embryos dying by the end of day 4 although some survive to day 6 (PubMed:11493557). Expansion of venous cells with a reciprocal loss of arterial cells (PubMed:20193674)
Abnormal sexual reproduction; decreases MFalpha1 expression and abolishes hyphal elongation (PubMed:31681631). Decreases virulence in a mouse intranasal inhalation model for pulmonary infection (PubMed:31681631). Normal vegetative cell population growth at high temperature (PubMed:31681631)
No visible phenotype in a 12 hour, calf ligated ileal loop infection model (PubMed:24019407). No bacterial growth phenotype; bacteria no longer induce IL-10 induction in human B cell lines. Bacteria grow slightly less well in human cell lines 24 hours post-infection. Deletion leads to greatly decreased phosphorylation of STAT3 in infected human cells. In mouse infections (C57BL/6 and CBA/J mice) deletion mutant bacteria are less virulent and less competitive with wild-type bacteria, mice have a reduced bacterial burden following intraperitoneal or oral infection, while mouse STAT3 is less phosphorylated (PubMed:29924996)
Cells lacking this gene have a m(5)s(2)U content in tRNA that is about 40% of that of the wild-type strain. Moreover, TtuB-conjugates in the deletion mutant strain are similar to those in the wild-type strain, suggesting that TtuD is not involved in TtuB-conjugate formation
Results in silencing of the fumagillin gene cluster and elimination of fumagillin biosynthesis (PubMed:24116213)
Not essential. Increased sensitivity to oxidative stress. 100-fold decreased survival in acidified murine macrophages, slightly reduced growth at pH 7.0, delayed growth at pH 4.5, severely delayed growth at pH 3.0. Loss of sigma-E-dependent acid tolerance response, loss of acid and heat stress response
Reduces proteolysis by YME1
Impairs cysteine desulfurase activity of mitochondria. Leads to strong accumulation of free iron, not bound to heme or Fe/S clusters, in mitochondria, as well as to decreased amounts of the mitochondrial Fe/S proteins including aconitase and succinate dehydrogenase. Leads also to accumulation of 5-methoxycarbonylmethyluridine (mcm5U) and a concomitant decrease in 5-methoxycarbonylmethyl-2-thiouridine (mcm5s2U) in cytoplasmic tRNAs. Increases association between GRX5 and SSQ1 (PubMed:23615440)
Loss of isoform D causes embryonic lethality
Asci produce less than 4 spores, which are immature and germinate at low frequency. Cells are defective in development of the forespore membranes
Flies exhibit transformation of the eye mystery cells, which are usually non-neuronal, into extra photoreceptors, and supernumerary cone cells and pigment cells are also recruited. Mutants also exhibit abnormal head involution, a change in a number of sensilla in the antennomaxillary complex and abnormal morphogenesis of the maxillary palp and wings in later stages
Impairs the production of sterigmatocystin and leads to the accumulation of averantin
RNAi-mediated knockdown results in 70% lethality at the larval stages (PubMed:23933492). RNAi-mediated knockdown enhances the larval lethality phenotype of the nfyb-1 cu13 mutant (PubMed:23933492)
Leads to the loss of pyrichalasin H production, but accumulates novel cytochalasans, all lacking a hydroxyl group at C-7
RNAi-mediated knockdown severely impairs axon regeneration in a daf-2 mutant background, in a daf-16-dependent-manner (PubMed:26675724). Impairs short-term associative memory in a daf-2 mutant background in a daf-16-dependent-manner (PubMed:26675724). Reduces longevity in a daf-2 mutant background (PubMed:26675724)
Blocks TAFC biosynthesis, decreases resistance to oxidative stress, and attenuates virulence in a murine model of invasive pulmonary aspergillosis (PubMed:22106303)
Reduced number of natural killer cell-committed progenitors in bone marrow
No visible phenotype. The lens of the eye appears normal in young animals. However, formation of the lens suture is abnormal with an X-shaped or double-Y shaped morphology instead of a tight Y-shaped pattern. Optics of the lens are distorted and cortical cataracts develop; the phenotype progressively worsens with age. Expression of CLIC5 in the lens epithelium is almost completely absent
Increases Ty1 mobility 31-fold
Mice are viable, fertile and are born at the expected Mendelian rate. Slight decrease in blood CD11b(+)Ly-6G(-)Ly-6C(+) monocyte and CD11b(+)Ly-6G(+)Ly-6C(+) neutrophil populations. Lymphocyte and myeloid development is not affected. In S.aureus-mediated skin infection, recruitment of neutrophils and monocytes to the infection site is transiently reduced. In thioglycolate-induced peritonitis, recruitment of neutrophils is normal
Cells lacking this gene are unable to synthesize ergothioneine (ERG), but do not show growth defect. Deletion of egtD from wild-type M.smegmatis and a mycothiol (MSH)-deficient mutant does not affect their susceptibility to tested antibiotics. The ERG- and MSH-deficient double mutant is significantly more sensitive to peroxide than either of the single mutants lacking either ERG or MSH, suggesting that both thiols play a role in protecting M.smegmatis against oxidative stress and that ERG is able to partly compensate for the loss of MSH
Albino seedlings with defects in etioplast and amyloplast development leading to degenerate organelle-like structures, but normal green vegetative tissues (PubMed:21045120). Reduced hypocotyl gravitropism probably due to the lack of amyloplasts (PubMed:21045120)
Homozygous flies for rcd4 are lethal at the late pupal and adult stages. The flies that emerged are slow and uncoordinated. Female mutant flies are sterile. Male mutants are fertile
Neurodegeneration, slow growth, decreased starvation-induced autophagy, increased basal autophagy and decreased Tor activity (PubMed:26812014). RNAi-mediated knockdown in neurons results in impaired habituation during a light-off jump reflex habituation assay where flies are exposed to a series of sudden light-off pulses and measured each time for a jump response (PubMed:26757981). Mutants fail to adapt their behavior and retain high average jump response throughout the experiment in contrast to controls which quickly habituate to the repeated light-off stimuli (PubMed:26757981)
Results in increased susceptibility to fungal or Gram-positive bacterial infection and failure to induce the expression of the Toll pathway-activated antifungal peptide Drs (PubMed:18724373). siRNA-mediated knockdown results in increased susceptibility to Gram-positive bacterial infection and severe reduction in the expression of the antifungal peptide Drs (PubMed:16631589). In a protease psh mutant background, complete loss of Drs induction and increased susceptibility to Gram-positive bacterial infection (PubMed:18724373)
RNAi-mediated knockdown increases the number of P.berghei oocysts in the mosquito midgut (PubMed:24039584). In the hemolymph, prevents the cleavage of TEP1 into its mature form thereby preventing TEP1 binding to the surface of bacterium E.coli or parasite P.berghei ookinetes (PubMed:24039584). In response to E.coli infection, cleavage of CLIPA8, CLIPA28 and CLIPC9 in the hemolymph is impaired and phenoloxidase (PO) activity is severely decreased (PubMed:24039584, PubMed:33045027). Also reduces E.coli melanization (PubMed:33045027)
Delayed leaf senescence phenotype (PubMed:12366806). The double mutants ate1 and ate2 show reduced seed germination potential and inhibition of seedling establishment by sucrose (PubMed:19255443). The double mutants ate1 and ate2 exhibit abnormal shoot and leaf development (PubMed:19620738)
Complete perinatal lethality. All pups die within the first 24 hours after birth (PubMed:16054034). Mutant pups lack kidneys. In addition, females have normal ovaries, but no uterus. Males have testes, but lack the epididymis (PubMed:16054034). The early stages of the development of the ureteric component of the metanephric kidney appear normal, but branching after the T-stage is disrupted, and mutants lack mesonephric tubules at 11.5 dpc (PubMed:16054034). Mutant embryos have a cleft lip and palate phenotype at 18.5 dpc, plus additional, bilateral defects in upper jaw skeleton development (PubMed:16054034, PubMed:22461561). Embryos appear normal at 10.5 dpc, but display hypoplasia of the lateral and medial nasal process at 11 dpc. At 11.5 dpc, they display a clear bilateral gap between the medial nasal process and the fused medial end of the lateral nasal process and the maxillary process. The palatal shelves display lack of midline contact at 14.5 dpc
No visible phenotype under normal growth conditions, but mutant seedlings fail to establish into plantlets with true leaves under low light or short day conditions
Double mutations in this protein and in ARF4 protein significantly suppresses the adaxial development defect of leaves of the AS2 and RH10 proteins double mutant at high temperatures
RNAi-mediated knockdown results in embryonic lethality (PubMed:24231804). RNAi-mediated knockdown results in defective cell division characterized by irregular chromosome segregation, premature spindle pole separation and defective formation of kinetochore-microtubule attachments (PubMed:24231804). In addition there is reduced localization of the spindly-like protein spdl-1 to kinetochores (PubMed:18765790)
Embryonic lethal, due to absence of mitochondrial DNA. Mutant embryos die before 10.5 dpc
Clustered stomatal pattern distribution in seedlings characterized by excessive numbers of small epidermal cells, due to impaired meristemoid mother cell (MMC) asymmetric division (PubMed:27746029). Abnormal non-polarized subcellular localization of POLAR and YDA in asymmetric dividing cells (PubMed:30429609, PubMed:25843888)
Deletion of the gene impairs iron-bound mycobactin utilization and EsxG and EsxH export
RNAi-mediated knockdown results in reduced survival in response to oxidative stress induced by sodium arsenite
Cells lacking this gene display defective growth at low pH, elevated temperatures, and high osmolarity. Moreover, they exhibit a significant reduction in the transcription level of mutA and a defect in production of the lantibiotic mutacin II. They also show reduced resistance to bacitracin
Death during development, the few adult escapers exhibit clockwise rotation of the abdomen and defects in embryonic muscle development
Genetic deletion eliminates voltage-gated nonselective currents and taste-evoked ATP release in type II TBCs without affecting cell excitability or diminishing Calhm1 expression, and results in the loss of responses to sweet, umami and bitter tastes
Shows significant reduced growth
Essential, it cannot be deleted (PubMed:8454182). Cells depleted of PBP2b continue to grow more slowly than wild-type until at least 12 hours after expression stops. Cells form very long chains and have an altered shape, becoming lentil-like rather than ellipsoid. Cells are more sensitive to amidase and have an altered stem peptide composition (PubMed:23873916)
Mutants infected with Pseudomonas aeruginosa die within 7 days whereas all wild-type mice survive the infection (PubMed:12563314). Mutants are defective in radiation-induced apoptosis (PubMed:8706124)
Defects in smpd3 are the cause of fragilitas ossium (fro) mutation characterized by severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Mice lacking Smpd2 and Smpd3 are completely devoid of neutral SMase activity but do not developed sphingomyelin storage abnormalities. Mice lacking Smpd3 develop a form of dwarfism and delayed puberty as part of a hypothalamus-induced combined pituitary hormone deficiency (CPHD). Growth retardation is probably due to delayed ossification of long bones
Loss of correct processing of pre-crRNA and tracrRNA. Loss of immunity against a plasmid with homology to CRISPR spacer sequences
Telomere shortening without affecting the accumulation of TER or TERT
Cells are 5-fold more resistant to the antitumor agent cisplatin than are wild-type cells
Progressive loss of fertility and accumulation of histone H3 'Lys-4' dimethylation (H3K4me2) over generations (PubMed:24685137). Suppression of sel-12 mutant phenotypes, possibly by up-regulating hop-1 expression (PubMed:12411496)
No visible phenotype (PubMed:26485022, PubMed:31297122). Longer hypocotyls and greater fresh weight (PubMed:32664862). Greater production of lateral roots due to increased lateral root primordium initiation and associated with a stronger auxin signal in stage I lateral root primordia where PIN1 and PIN3 accumulates abnormally, as a result of defective PIN-FORMED (PIN) auxin efflux carrier proteins exocytosis (PubMed:35249253). Strongly inhibited by the auxin influx inhibitor 2-naphthoxyacetic acid (2-NOA); this impact is partially eliminated by the auxin efflux inhibitor N-naphthylphthalamic acid (NPA) (PubMed:35249253). Plants impaired for both B1L and EXO70B1 produce more lateral roots than single mutants (PubMed:35249253). Increased sensitivity to freezing treatment in cold-acclimated (CA) conditions leading to higher ion leakage, and associated with a reduced expression of C-repeat binding factors (CBFs) and CBF target genes, including the promotion of CBF3 degradation (PubMed:31297122). Reduced brassinolide-promoted hypocotyl elongation and lower allantoin accumulation only under cold conditions (PubMed:32664862). Increased sensitivity to cold in plants lacking both B1L and GRF6 (PubMed:31297122). But enhanced freezing tolerance in the triple mutant lacking B1L, GRF6 and GRF8 (PubMed:31297122). The double mutant b1l ttl exhibits a developmental phenotype and freezing tolerance comparable to the single mutant ttl (PubMed:32664862)
Grows very slowly with methionine as sole sulfur source
Decreased relative stomata aperture under normal growth conditions
Affects the maintenance of DNA methylation imprints. The absence of just the zygotic function causes partial neonatal lethality, whereas eliminating both the maternal and zygotic functions results in a highly penetrant embryonic lethality. In oocytes, its absence results in failure to establish maternal methylation imprints at the Snrpn imprinted region. Intriguingly, methylation imprints are reacquired specifically at the maternally derived Snrpn imprinted region when the zygotic Zfp57 is present in embryos (PubMed:18854139, PubMed:30602440). Double zygotic mutations of ZFP57 and ZNF445 are embryonically lethal and embryos show no gross morphological abnormalities but significant reduction in size and weight at 11.5 dpc, a phenotype more pronounced than in ZFP57 mutant mice with a more severe loss of impinting (PubMed:30602440)
Impairs the production of cladofulvin (PubMed:27274078). Does not affect virulence (PubMed:27997759)
Suppresses temperature-sensitive mutation in FtsZ, in a wild-type FtsZ background increases the number and alters the position of FtsZ rings (PubMed:10449747). In minimal medium cells elongate and occasionally form minicells. Double dynA-ezrA mutants have longer cells with more double septa than either deletion alone (PubMed:23249255)
Viable but with locomotor deficits (PubMed:31535971). Results in loss of light response in all neuronal layers part of the ON visual system (PubMed:31535971). In Mi1 neurons, does not affect function of the ON visual response (PubMed:31535971). RNAi-mediated knockdown in Mi1 or Tm3 neurons, does not affect function of the ON visual response (PubMed:31535971)
Enhanced root distal stem cell differentiation and increased mitotic activity in root quiescent center
Impairs merozoite invasion of host erythrocytes at, or prior to, the formation of the tight junction (PubMed:35140336). Merozoite development and egress following schizont rupture are not affected (PubMed:35140336). Inhibits rhoptry bulb RAP1 processing but not secretion of rhoptry neck proteins RH4 and RON4 (PubMed:35140336). Causes defects in rhoptry morphology which are narrower and more elongated (PubMed:35140336). No defect in microneme secretion (PubMed:35140336)
Mice are small in size, have disproportionately small thymi and spleens, and die at 3 weeks of age. Multiple defects in T-cell development are observed, including interrupted thymocytes differentiation and abnormal T-cell transcriptome. RNAi-mediated knockdown in neural stem/progenitor cells in the adult subventricular zone impairs early neuronal differentiation (PubMed:26305964)
Lack of phylloquinone and reduced growth under normal light. Loss of anthocyanin accumulation under high light
Leads to weak conidia formation on hyperosmotic medium (PubMed:18448366)
When both lon and ycgE are disrupted levels of OmpF decrease, leading to lower drug susceptibility, with a greater effect at 26 degrees than at 37 degrees Celsius. The mechanism is not yet understood (PubMed:19721064). Decreased persister cell formation upon antibiotic challenge due probably due to increased levels of MazF toxin (PubMed:24375411)
Asporogeneous; spore development starts but does not develop the spore cortex
Mutant shows no significant growth defect
Deletion of the gene does not impact in vitro growth, but it leads to aberrations in the cell length. Deletion mutant shows much higher sensitivity to oxacillin and clavulanic acid. Mutant shows compromised bacterial virulence in the host
Death at or soon after 9.5 dpc probably due to abnormal embryonic turning and looping of the heart. Embryos also display defects in development of the forebrain and branchial arches
Mutants show a significant accumulation of intracellular L-alanine and a reduction in the L-alanine export rate
Shows trichomes with exclusively no branching
Mutants have a C1-defective and methanol-sensitive phenotype
Enhanced resistance to Xantomonas oryzae pv. oryzae (Xoo), expression of defense-related genes and cell death (necrotic lesions)
The knockout of the gene results in early embryonic lethality with no viable embryos recovered at 12.5 dpc
Mildly decreases methylation of the fifth carbon of cytosine (5mC) in DNA; simultaneous disruption of CLR4 exacerbates the effect
Does not affect biotrophic development, nor virulence
Mutants show larval arrest at an early developmental stage and egg-laying defects; 14% of mutants accumulate unlaid eggs that hatched internally
Mutants are lethal at larval stages (PubMed:19837371, PubMed:22622177). They are significantly smaller without gross morphological defects and die 5 days after egg laying (PubMed:22622177). Cells show accumulation of ubiquitinated proteins in both the nucleus and the cytoplasm, forming dense dots (PubMed:22622177). Double mutants for ref(2)P and scny die 96 hours after egg laying (PubMed:22622177). RNAi-mediated knockdown is also larval lethal (PubMed:19837371). RNAi-mediated knockdown in the fat body or gut of uninfected adults, results in a significant increase in the expression of the antimicrobial peptide genes Dpt, AttA and puc (PubMed:19837371). Adults raised under axenic conditions do not display any increase in Dpt, AttA and puc expression (PubMed:19837371). No significant increase in the expression of the antifungal peptide gene Drs (PubMed:19837371). Double knockdown with imd in the adult fat body, prevents the enhanced expression of Dpt in uninfected flies (PubMed:19837371)
Cells lacking this gene display a 5.8-fold increase in ica operon expression
Seedling lethality. Non-photosynthetic mutants possess near normal pigment levels but lack one or more elements of the electron transport activity in chloroplasts. Defects in protein targeting across chloroplast thylakoid membrane (PubMed:7664731)
Strongly reduced phosphoenolpyruvate carboxykinase activities in veins, leading to reduced alanine levels, which is derived from phosphoenolpyruvate (PEP) via pyruvate, but increased aspartate accumulation, derived from oxaloacetate
Cells lacking this gene exhibit very retarded growth in MM and the addition of isoleucine does not affect the growth of this mutant, whereas the addition of leucine appears to improve growth in MM
Abolishes localization of hop1 to DNA double-strand break (DSB) hotspots
Leads to defects in actin polarization, endocytosis, bud morphogenesis, as well as increased sensitivity to calcofluor white and Congo red. Shows also a strong defect of hyphal morphogenesis and attenuated virulence
Cells lacking this gene accumulate 2-methylcitrate during growth on propionate
RNAi-mediated knockdown is embryonic lethal with the display of a meiotic metaphase-to-anaphase defective phenotype marked by arrest at meiosis I at the one-cell stage of embryogenesis
Reduced growth, yellow leaf, defective stomatal closure in the dark, increased transpirational water loss, sensitive response to dehydration, lower germination efficiency and decreased ABA levels
Simultaneous RNAi-mediated silencing of both ARF2A and ARF2B results in severe defects in tomato fruit ripening process (PubMed:26959229, PubMed:26716451). Plants form triple cotyledons and have enhanced root branching. Tomatoes have reduced pigment accumulation, enhanced fruit firmness, low climacteric ethylene production and inability to ripen upon exogenous application of ethylene (PubMed:26716451). The fruits are either parthenocarpic or contain only a few seeds, and the time from anthesis to breaker (Br) developmental stage is significantly extended compared to wild type fruit (PubMed:26959229). Altered expression of ethylene biosynthesis, signaling and ethylene response factor (ERF) genes and genes involved in the carotenoid pathway and ripening-related cell wall metabolism. Up-regulates auxin-responsive genes (PubMed:26716451). Down-regulated expression levels of ripening regulators, including RIN, AP2a, NOR, TAGL1, ETR3, ERF1 and CNR at the red (R) fruit stage. Expression levels of hormones such as abscisates, cytokinins and salicyclic acid are altered, and levels of carotenoids phytoene, phytofluene and lycopene are reduced in red fruits. Gibberellic acid (GA) and auxin expression levels are unchanged. Compounds normally reduced upon ripening show higher levels than wild type fruit as a result of simultaneous silencing of ARF2A and ARF2B (PubMed:26959229)
Mice are viable, fertile and appear normal, but have defective antigen-induced Th2 inflammatory responses and defective IL-13-induced responses, displaying accelerated cell death responses and diminished M2 macrophage differentiation. Mutant mice are more sensitive to S.pneumoniae infection, displaying enhanced mortality, exacerbated lung injury and decreased bacterial clearance compared to wild-type mice. Mutant mice also have an exacerbated response to hyperoxia, displaying enhanced protein leak, tissue inflammation and chemokine production and premature death
No visible phenotype under standard growth conditions, but growth inhibition and leaf chlorosis and bleaching under low K(+) conditions
Mice are viable and fertile and fail to demonstrate any striking abnormality in motor and sensory functions. Other transporters could help to compensate for lost of SLC6A15
Increased numbers of floral organs, including the stamen, carpel, palea/lemma, stigma and lodicule
Suppression of the bleaching and dwarf phenotypes of plants lacking ABC1K1 in red light, associated with the rescue of chlorophylls and carotenoid contents as well as D1 protein level, product of psbA, one of the four core subunits of the photosystem II (PSII) (PubMed:25882344). Slight reduction of nonphotochemical quenching after high light intensity treatment. Abnormal chloroplast ultrastructure with slightly scattered thylakoid grana and reduced starch granules accumulation in normal light. In high light (HL), stronger phenotype with large scattered grana and extensive vacuolation as well as an increase in plastoglobule size and higher number of plastoglobule clusters, but no starch granule (PubMed:23632854). Impaired for the production of plastochromanol-8 (a plastoquinone-derived lipid antioxidant) and the redox recycling of alpha-tocopherol, but normal tocopherol. Increased accumulation of VTE1 and PAP1/FBN1a transcripts, but reduced levels of proteins fibrillin-1a (PAP1/FBN1a) and tocopherol cyclase (VTE1) due to protein instability and leading to abnormal accumulation of the alpha-tocopherol (alpha-T) oxidative- derivate alpha-tocopherol quinone (alpha-TQ) (PubMed:23632854). Conditional light stress phenotype in the double mutant abc1k1 abc1k3 that displays rapid chlorosis upon high light stress and slower, but irreversible, senescence-like phenotype during moderate light stress, drought or nitrogen limitation, but not cold stress. This senescence-like phenotype is associated with the degradation of the photosystem II core and up-regulation of chlorophyll degradation. During light stress, modified prenyl-lipid composition in plastoglobules (PG) probably due to reduced VTE1 activity and loss of CCD4, as well as abnormal recruitment of plastid jasmonate biosynthesis enzymes in PG (PubMed:23673981)
The phlA-phlG double mutant cannot degrade DAPG
Moderate reduction in leaf cell number associated with pointed leaves shape (PubMed:19392710). Defects in pre-rRNA processing characterized by an increased accumulation of rRNA intermediates containing 50-ETS, ITS1, or ITS2, with stronger negative effect on ITS2-containing intermediates (PubMed:29375609). Higher levels of 35S, 27SA, 27SB, P-A3, and 18SA3 rRNAs (PubMed:29375609). Normal levels of methylation at cytosine 2860 of 25S rRNA, but slight reduction of nuclear 25S rRNA cytosine 2268 (m5C2268) (PubMed:26268215). Double mutants oli2 oli7 and oli2 oli5 have further reduced cell number but exhibit also excessive postmitotic cell enlargement in leaves (compensation phenotype) (PubMed:19392710). Plant missing both OLI2 and GIF1/AN3 have a strong compensation phenotype (PubMed:19392710). The double mutant gdp1 oli2 exhibit strong growth defect due to a synergistically impaired cell proliferation in leaves and enlarged cells (PubMed:29375609)
Abolishes the production of koraiol
Leads to a 'wettable' phenotype with drops of water attaching to the mycelium, whereas water drops off the wild-type colonies. Conidia show a strongly reduced tendency to float at the water-air interface of conidial suspensions. Triggers an increased activation of human neutrophil granulocytes and dendritic cells, characterized by an increased release of the immune mediators interleukin-6 (IL-6), IL-8, IL-10, and tumor necrosis factor alpha (TNF-alpha)
Inactivation increases mouse survival. Mutants show growth patterns similar to the wild-type strain during the active growth phase, but they are attenuated for survival in the chronic stages of infection
The pollen tube growth defects of plants lacking TOD1 are partially suppressed by gaut13 mutation (PubMed:25591940). The gaut13 gaut14 double mutant is defective in male gametophyte function; swollen pollen tubes disturbed in elongation, and characterized by a disorganized outer layer cell wall with an altered repartition of pectin (e.g. homogalacturonan) (PubMed:23709340)
Mutant animals are viable and fertile, with no obvious anatomical defects. Ovaries from mutant females may have an elevated number of polyovular follicles. 25% of mutant males consistently exhibit copulatory behavior toward other males
Reduced DHNA-CoA thioesterase activity and phylloquinone content
Cells lacking this gene fail to grow under anaerobic conditions using either DMSO or TMAO as terminal electron acceptors
RNAi-mediated knockdown increases survival following infection by pathogenic bacteria S.aureus (PubMed:32538777). RNAi-mediated knockdown impairs the splicing of genes such as prg-2 and tos-1 following infection by S.aureus (PubMed:32538777). RNAi-mediated knockdown induces the expression of nlp-34, lys-3, irg-2, irg-1, M01G12.9, fmo-2 and cyp-37B1 under non-infected conditions (PubMed:32538777). RNAi-mediated knockdown increases the phosphorylation of pmk-1 (PubMed:32538777)
Viable and fertile. Females display reduced fecundity under restricted dietary conditions of 10% yeast. Fecundity can be rescued by supplementing their diet with methionine
PE5-PPE4 double mutant exhibits a severe iron phenotype but secretes EsxG and EsxH normally. Mildly attenuated in vivo
In cells lacking this gene, expression of glnR, tnrA, nasB, nrgAB, gabP and ure genes is derepressed
No visible phenotype. In a nas-6 (hd108) mutant background, enhances slow growth of nas-6 single mutant
Mutant does not show nitrate chemotaxis
Defective embryo arrested at cotyledon stage (PubMed:15266054). Reduced germination capacity, leading to the development of some dwarf seedlings unable to grow on soil (PubMed:9843485). Reduced sensitivity to nematodes associated with reduced number of cysts and limited number of galls upon infection with Meloidogyne incognita and Heterodera schachtii (PubMed:9843485)
No visible phenotype; due to the redundancy with HSL2. Hae and hsl2 double mutants have a strong abscission defect
No visible phenotype of seedlings under normal growth conditions (PubMed:26973665). The double mutants pao1 and pao5 exhibit enhanced tolerance to salt and drought stress (PubMed:26973665). Increased length and thickness of floral stems (PubMed:28199662). Increased length of roots (PubMed:28199662). Delayed transition from vegetative to reproductive stage (PubMed:24906355). Increased levels of thermospermine (PubMed:24906355)
Mutant mice are viable but are born at sub-Mendelian ratios. They further suffer from severe growth retardation, infertility, abnormal gait and slight paralysis of the limbs. In an experimental autoimmune encephalitis (EAE) model, mutant mice exhibited reduced disease severity relative to wild-type mice, as well as reduced recruitment of lymphocytes, monocytes/microglia, and NK cells to the spinal cord
Coelomocytes contain larger early and late endosomes enriched with PtdIns3P. Delayed conversion of early endosomes to late endosomes with early endosomes retaining PtdInsP3 for a longer duration of time which may possibly be due to a delay in either the turnover or transport of PtdIns3P out of the endosome. This leads to continuous fusion of early endosomes which continues until rab-5 is displaced and rab-7 is recruited. Double knockout with sorf-1 results in a similar phenotype as the individual single sorf-2 knockout. Double knockout with bec-1 results in smaller endosomes and an irregular distribution pattern of PtdIns3P in the cytoplasm. Double knockout with vps-18, a subunit of the CORVET/HOPS complex, results in larger endosomes and larger lysosomes and thus suppresses the endosome/lysosome fusion defect in the vps-18 single mutant. Likewise, RNAi-mediated knockdown in a vps-11, vps-39 or vps-41 mutant background (subunits of the CORVET/HOPS complex) also suppresses the endosome/lysosome fusion defects in the vps-11, vps-39 and vps-41 single mutants. However, RNAi-mediated knockout in a mutant background of the CORVET/HOPS complex subunits vps-16 or vps-33.1, does not suppress the endosome/lysosome fusion defects in the individual vps-16 and vps-33.1 single mutants. Double knockout with proteins involved in rab-5 to rab-7 switching in early to late endosome conversion such as rab-7, sand-1 and tbc-2 results in enlarged vacuoles, delayed endosomal cargo transport and persistent PtdIns3P in early endosomes in coelomocytes
Leads to intracellular accumulation of flucytosine and clotrimazole (PubMed:23805133)
No visible phenotype. It however abolishes Tn antigen in neuronal cells
Exhibits cold sensitivity and leads to internal accumulation of precursor CPY
When depleted (with anti-sense RNA) no vancomycin-induced degradation of RseA is seen
Increased proton extrusion and resistance to high external pH
Cells lacking this gene have no visible phenotype is response to salt, ethanol or energy stress. However cells with multiple disruption (RsbRA, RsbRB and RsbRD) have an increased basal level of sigma-B, indicating this protein is a negative regulator of sigma-B
Mutants show severely reduced or absent germinal center B cells in the lung-draining lymphatic nodes when infected by influenza virus
Increased sensitivity to exogenous abscisic acid (ABA) and higher ABA levels in leaves
Mutants exhibit cell migration and axon guidance defects in HSN, AVK, CAN and AVG neurons, and also display excretory canal elongation defects with premature termination of the canal. Double knockout with either unc-53 or vab-8 results in premature termination of the AVG axon and AVG polarity defects
Strains lacking this gene are shown to be attenuated in macrophages
No visible phenotype, when heterozygous (PubMed:20516338). Lethality in the female gametophyte, when homozygous (PubMed:18694459, PubMed:20516338). Enhanced susceptibility to geminivirus infection (PubMed:18789471, PubMed:19112492)
Most mice die within the first 12 weeks (PubMed:21115689). Show severe inflammatory syndromes, including growth retardation, splenomegaly and lymphoadenopathy (PubMed:19322177, PubMed:21115689). show systemic inflammation characterized by T-cell and B-cell activation (PubMed:23706741). Exhibit greatly increased levels of plasma cells and infiltration of plasma cells into the lungs (PubMed:19322177, PubMed:21115689). Show elevated serum immunoglobulin levels and produce anti-nuclear autoantibodies (PubMed:19322177, PubMed:23706741). Mice show increased production of pro-inflammatory cytokine mRNAs and secreted protein levels, such as IL6, TNF and PTGS2 expression upon lipopolysaccharide (LPS) stimulation in bone marrow macrophages (BBMs) or embryonic fibroblasts, particularly in the early phase of the inflammatory response (PubMed:21115689, PubMed:26000482). Show impaired degradation of IL6 mRNA (PubMed:19322177, PubMed:21115689). Show an increased in both JNK and NF-kappa-B signaling pathway activations upon LPS stimulation (PubMed:21115689). Show an increase in global ubiquitinated protein level in splenocytes (PubMed:21115689). Display a drastic increase in both basal and LPS- or TNF-induced ubiquitination of TRAF2, TRAF3 and TRAF6 in splenocytes (PubMed:21115689). Splenocytes show spontaneously formed aggregation of stress granules (SGs) and were resistant to stress-induced apoptosis (PubMed:21971051). Heterozygous knockout mice display IL-17-dependent enhanced resistance to disseminated Candida albicans infection compared to wild-type mice (PubMed:26320658). Double knockout of ZC3H12A and RC3H1 result in embryonic developmental arrest and death; embryonic fibroblasts from these mice show a higher increase in IL6, TNF and PTGS2 expression upon LPS stimulation, both in early and late phases of the responses, compared to single knockout of either ZC3H12A or RC3H1 (PubMed:26000482). T-cell specific conditional knockout mice die within the first 8 to 17 weeks after birth with the development of severe splenomegaly and the development of a severe autoimmune inflammatory disease (PubMed:23706741). Show massive increase in effector/memory T-cells with elevated production of interferon IFNG, interleukins IL17A and IL4 in response to phorbol 13-acetate 12-myristate (PMA) (PubMed:23706741). Proteolytic cleavage is inhibited in T-cells in response to antigen stimulation (PubMed:23706741). Conditional knockout in myeloid cells show impairment in IL4-induced macrophage M2 polarization (PubMed:25934862)
Repressed nitrate induction of phosphate (Pi) uptake activity (PubMed:33316467). Reduced biomass under Pi starvation; this phenotype is aggravated by the loss of both RLI1 and PHR2 and is associated with leaf senescence symptoms and lower Pi concentration (PubMed:35640569)
Mice are unable to suckle probably due to defective E-C coupling in jaw muscles, and die shortly after birth. In skeletal muscles, triad junctions are reduced in number. Mutant mice developed less contractile force and abnormal sensitivities to extracellular Ca(2+) were observed. Sarcoplasmic reticulum is often structurally abnormal
Knockout mice exhibit a loss of axonemal curvature and beating asymmetry in tracheal epithelial cilia, resulting in a reduction of cilia-generated fluid flow in trachea (PubMed:20498047). Knockout mice exhibit accumulations of exudates in the nasal passages and sinuses, rhinosinusitis and otitis media, and also emitted frequent coughing- or sneezing-like noises (PubMed:20498047, PubMed:20442420). Knockout male show abnormal sperm morphology and function characterized by shortened or absent flagella and immotility, and male infertility (PubMed:20498047, PubMed:20442420). Partial loss of tubulin glutamylation, probably due to redundancy with other polyglutamylases (PubMed:20498047)
Leads to a albinos phanotype and affects conidiation (PubMed:15811992, PubMed:16278459, PubMed:15809006, PubMed:15780665)
Doubling time increases for growth under nonstress conditions, unable to initiate growth at pH 5.0 and under 3.5% NaCl salt stress. Double deletions of FtsY and Ffh, or FtsY and YidC2 are barely able to grow in the absence of stress
Abnormal sterol distribution in many cells, also lower than normal ecdysteroid levels. Npc2a and Npc2b double mutants undergo apoptotic neurodegeneration
Leads to reduced growth on protocatechuic acid and the accumulation of hydroxyquinol, when prcA is also deleted
No visible phenotype, excepting a slight decrease in neural conduction velocity from the tibial nerve to the somatosensory cortex (PubMed:8855236). Mutant mice display impaired motor coordination and balance (PubMed:15953602). Sciatic nerves from over three month old mutant mice show signs of Wallerian degeneration, with redundant myelin, degeneration of myelinated fibers, axon dysmyelination, and an apparent decrease in the diameter of myelinated axons (PubMed:15953602). The distances between neurofilaments in myelinated axons from over 3 month old mice are shorter than normal (PubMed:15953602). Mice are less sensitive to C.botulinum neurotoxin type C (BoNT/C), C.botulinum neurotoxin type D (BoNT/D, botD) and C.botulinum neurotoxin type F (BoNT/F, botF) (PubMed:21483489)
No visible phenotype; due to the redundancy with other SDN ribonucleases. Simultaneous knockdown of SDN1, SDN2 and SDN3 results in elevated miRNA levels and pleiotropic developmental defects
Flies exhibit altered morphology of setae, micro- and macrochaetae on the head, thorax and wing (PubMed:15579689). The number and distribution of setae on the thorax is altered, as is the morphology of the aristae (PubMed:15579689). Mutants also exhibit scolopidial apical detachment and overall Johnston's organ (JO) disorganization (PubMed:15579689). RNAi-mediated knockdown in Johnston's organs, disrupts the filamentous structure of the glycoprotein NompA at the apical junction (PubMed:27331610). NompA occurs as puncta and scolopidia detatch from the hinge of the second and third antennal segment (PubMed:27331610)
Mice are fertile and healthy with no obvious abnormalities in major organs in normal conditions (PubMed:29025062, PubMed:28701375). Males however display a decreased fertility: they show reduced testis size and sperm number (PubMed:29025062). The proliferation of germ cells in the seminiferous tubules is decreased in male gonads (PubMed:29025062). Impaired necroptosis: deficient cells show resistance to RIPK1-dependent apoptosis and necroptosis and are partially protected against RIPK1-independent apoptosis (PubMed:28701375)
Leads to hypersensitivity to cell wall-damaging agents and highly attenuated in a murine model of systemic infection
Mutant exhibits lower biotin uptake and has a diminished capacity to form nodules on bean plants
Disruption of the gene abolishes the production of phthiocerol dimycocerosate (DIM) on the cell envelope (PubMed:11279114). Mutant is attenuated in BALB/c mice. Mutant induces less pneumonia and larger delayed-type hypersensitivity (DTH) reactions. It also induces lower but progressive production of IFN-gamma, IL-4 and TNF-alpha (PubMed:15958066)
Worms exhibit defects in rRNA processing which disrupt hermaphrodite gonadogenesis and germline proliferation and which are associated with a reduction in sheath cell number
Embryonic sublethality and altered DNA methylation, possibly caused by accumulation of 5-hydroxymethylcytosine (5hmC) in genomic DNA (PubMed:29020633). Mice do not show defects in hematopoiesis and no alterations in global 5hmC levels in bone marrow cells (PubMed:31806351). In contrast, mice display a decrease in class switch recombination (CSR) in mature activated B-cells (PubMed:31806351)
Seedling lethal when grown on soil. On agar plates supplied with sucrose, seedlings grow slowly with a chlorotic phenotype. They display irregular and small chloroplasts without starch grains in the stroma and with disorganized grana stacks and undeveloped thylakoid membranes
Mutants have normal body morphology, but with reduced body length and width, delayed larval development and decreased roaming movements (PubMed:22022287). Defective cilia structure and function (PubMed:22022287). Disrupted assembly of the BBSome complex at the base of the cilia (PubMed:22922713)
Deletion of the nikBCDE operon strongly reduces nickel transport and urease activity. Mutant shows decreased virulence in a mouse model of ascending UTI
Embryonic lethal (PubMed:25987605). RNAi-mediated knockdown in oocytes results in aberrant homologous chromosome segregation during meiosis due to severe pre-anaphase spindle defects characterized by disorganized microtubule bundles (PubMed:20729837). Delays in the processes leading up to exit from mitosis including delayed activation of separase, which results in a delay in the separation of sister chromatids, delayed cytokinesis onset and delayed chromosome decondensation (PubMed:25987605). These culminate in a delay in the onset of anaphase with a 50% increase in the interval between nuclear envelope breakdown and the onset of anaphase during embryogenesis (PubMed:25987605). Reduced bub-3 localization at the kinetochore region of chromosomes in embryos, but without a reduction in bub-3 protein (PubMed:25987605). In addition there is reduced localization of the spindly-like protein spdl-1 to kinetochores (PubMed:18765790)
Loss of H(2) production on minimal glucose and complex glucose but not on complex formate medium. Alters production of organic acids when grown on minimal glucose medium. This phenotype was complemented by reintroduction of the ygiG gene
Male mice are sterile due to asthenozoospermia (sperm with diminished progressive motility) and the diminished motility is due to aberrant flagellar function, with sperm tails contracting toward one side and generating a circular path for sperm
COL8A1(-)/COL8A2(-) mice exhibit decreased proliferation of mesangial cells, reduced phosphorylation of ERK1/2 and increased p27(KIP1) expression. Diabetic COL8A1(-)/COL8A2(-) mice reveal reduced mesangial expansion and cellularity and extracellular matrix expansion
Strain cannot grow on L-alanine as a sole carbon source. Disruption of ald causes a sporulation defect, most likely in stage V
Mutants are vital, fertile and display no gross abnormalities. They show an inconsistent pattern of altered anxiety-like behavior. Mutant males are significantly less anxious than their wild-type littermates, females show increased anxiety in the locomotor activity arena
Mice lacking Otof display hearing loss (PubMed:17055430, PubMed:17329413). Both outer hair cells (OHCs) and the afferent auditory pathway are functional (PubMed:17055430). Despite normal inner hair cells (IHCs) and ribbon synapse ultrastructures, these mice exhibit an almost complete abolition of IHC synaptic exocytosis in response to cell depolarization (PubMed:17055430)
No visible phenotype; due to redundancy with IRX15-L. Irx15 and irx15-l double mutants have a mild collapsed xylem phenotype, irregular secondary cell wall margins in fiber cells, uneven distribution of xylan in the cell wall and a lower degree of xylan polymerization, but no visible growth phenotype
Female are sterile and lay eggs that display only dorsal structures
No effect on growth in culture, or in isolated macrophages; infected guinea pigs have a highly attenuated infection with few granulomas and no necrotic centers
Embryos arrested at various developmental stages, mostly at the heart or torpedo stage
Mice lacking Fshb are viable (PubMed:9020850). Females are infertile displaying abnormal uterus and ovaries that lacked corpora lutea. The infertility is due to impaired follicle maturation which appears before antral follicle formation (PubMed:9020850). Males are fertile and spermatogenesis proceeds normaly. However, these mice display a reduced testes size and epididymal sperm count (PubMed:9020850, PubMed:11416011). The number of Sertoli cells is significantly reduced and their ability to support germ cell development is also affected (PubMed:11416011)
Impairs the synthesis of austinol and dehydroaustinol (PubMed:22329759)
A mild developmental delay, extended generation time, an extension of life span, defective egg-laying and decreased body size, but increased lipid storage (PubMed:15068796, PubMed:18782349, PubMed:19240135, PubMed:19260765). RNAi-mediated knockdown abolishes expression of the vitellogenin vit-3 (PubMed:27401555)
Double deletions of lprG-MSMEG_3069/MSMEI_2992 operon are more sensitive to ethidium bromide; restoration of wild-type growth is conferred by the M.tuberculosis operon. Cells display abnormal colony morphology and are defective for sliding motility under cabon-limiting conditions (PubMed:18156250)
Microtubules are shorter than normal
When associated with TOM1 disruption, reduced efficiency of intracellular multiplication of tobamoviruses (e.g. crucifer strain TMV-Cg), characterized by a reduced accumulation of viral coat protein (CP) and reduced amplification of TMV-related RNAs
Cells lacking both ptlE and ptlD accumulate 1-deoxy-11-oxopentalenic acid
Excess of internal nuclear membranes in oocyte-derived pronuclei that are nearly or completely bisecting the nucleus in embryos during nuclear closure (PubMed:32271860). Increased phosphatidylinositol (PI) production and ectopic ER sheets (PubMed:32271860). Nuclei contain openings through which imported proteins passively diffuse (PubMed:32271860). Increase in embryo nuclear size (PubMed:35852146). Twinned nuclei after mitosis (PubMed:32271860). Simultaneous knockdown of chmp-7 or lem-2 leads to enhanced nuclear sealing defects (PubMed:32271860)
Strong reduction in seed phytic acid, and strong increase of inorganic phosphate and myo-inositol levels in seeds. Seedling lethality when homozygous
Abolishes LAC1 expression and activity during glucose starvation (PubMed:17040492). Abolishes laccase activity during calcium stress and iron stress (PubMed:17040492). Severely decreases laccase activity during copper stress (PubMed:17040492). Melanin absent from cell (PubMed:25972480). Decreases virulence in a mouse intravenous inoculation model of infection (PubMed:17040492)
Mutants show increased numbers of double-strand breaks (PubMed:22343303). The single ralR and double ralR-ralA mutant have increased sensitivity to the antibiotic fosfomycin
Deletion of both gdnC and gdnD leads to a decrease in the concentration of guanidine required to inhibit bacterial growth
Disruption does not confer any obvious growth phenotype in nutrient broth at low temperatures, but mutant shows a 10-fold increase in sensitivity to rifampicin and vancomycin at 12 degrees Celsius compared with wild type cells
Severe head defects, including a failure of head involution and transformation of the thoracic and abdominal segments into a more posterior identity
After exposure to alkylating agent, significantly suppresses the depolarization of the mitochondrial membrane and the activation of BAK and caspase-3, all of which are hallmarks for the induction of apoptosis
Viable, but have fewer colony-forming units compared to wild-type. Cells are very heterogeneously sized and misshapen, and have a notable amount of cellular debris. Defects in cell division. Loss or very weak Z2 ring formation. FtsZ1/FtsZ2 double deletion mutant cells show various division defects, including fragmentation, budding, polar tubulation and fission resulting in DNA-containing particles, which are able to remain viable and propagate without regular cell division
Conditional deletion in intestinal epithelial cells leads to impaired antiviral innate immunity, leading to lethality following infection by an RNA virus (PubMed:34161762). Conditional deletion in intestinal epithelial cells leads to impaired antibacterial immunity, characterized by susceptibility to infection by enteric bacteria C.rodentium (PubMed:33483420). Conditional deletion in Paneth cells leads to reduced expression of alpha-defensins and severe DSS (dextran sodium sulfate)-induced colitis (PubMed:33483420)
Mice show a loss of neurons and apoptotic cells in the hippocampus
Homozygous knockout mice for Themis2 are viable and produced at the expected ratio (PubMed:24907343). Mice show normal B cell development, activation, or Ab responses (PubMed:24907343)
Deficient mice are viable and fertile but exhibit a severe defect in renal amino acid uptake due to down-regulation of apical amino acid transporters in the kidney (PubMed:17167413). Greater urine output, more dilute urine, a defect in urinary concentration, higher osmolar clearance and an increase in free water absorption, suggesting an osmotic diuresis (PubMed:16985211). Decreased urine osmolytes sodium and urea, presence of tyrosine and glutamine crystals in the urine, and increased excretion of amino acids in the urine, suggesting an aminoaciduria (PubMed:16985211). Decreased population of amino acid transporters SLC6A19, SLC3A1 and SLC7A9 in the renal cortical cell membrane (PubMed:16985211). Increased intracellular SLC1A1 levels (PubMed:16985211)
Cells lacking this gene grow significantly slower than that of the wild-type under microoxic conditions, while they grow normally under aerobic conditions. Coproporphyrin-III is accumulated at a low but significant level in the mutant growing under microoxic conditions
Embryonic lethality (PubMed:25519902). Embryonic fibroblast cells show reduced corepressor function of the N-CoR complex for PPARG, leading to constitutive activation of PPARG target genes and spontaneous adipogenesis of the cells (PubMed:25519902). Conditional knockout mice lacking Gps2 in B-cells show developmental defects at multiple stages of B-cell differentiation, caused by of aberrant activation of 'Lys-63'-linked ubiquitination events and altered gene expression programs downstream of the misregulated signaling pathways (PubMed:28039360). Conditional knockout mice lacking Gps2 in macrophages show inappropriate corepressor complex function, leading to enhancer activation, pro-inflammatory gene expression and hypersensitivity toward metabolic-stress signals (PubMed:27270589). Conditional knockout mice lacking Gps2 in adipose tissues show obesity associated with constitutive insulin signaling, increased lipid deposition in the white adipose tissue and improved systemic insulin sensitivity (PubMed:28123943). Conditional knockout mice lacking Gps2 in adipose tissues display reduced mitochondrial content in brown adipose tissue (PubMed:29499132)
ISG20-deletion mice exhibit higher mortality following vesicular stomatitis virus challenge (PubMed:31600344). They also show a slightly earlier onset of symptoms when infected with venezuelan equine encephalitis virus. However, weight loss and the median survival times for infected mice are essentially equivalent between the deletion mutant and the WT
Grows slightly more slowly than wild-type, decreased phycocyanin content, does not modify photoperiods in response to increasing light intensity, shortens the photoperiod by 1 hour (PubMed:12562813). 20% reduction in the level of CikA, CikA is slightly less sensitive to DBMIB, CikA levels do not decrease in high light as they do in wild-type. KaiA levels are higher than usual under all light regimes (PubMed:15775978)
Disruption of the gene leads to impaired growth under Ca(2+)-deficient conditions. Mutant also shows hypersensitivity to polymyxin B, increased biofilm formation and higher cell aggregation, indicating cell envelope defects
Cells lacking this gene have an increased sensitivity to UV and about 300-fold reduced chromosomal conjugational transfer
Filamentous cell morphology and multiple septa. Filaments cross walls but cells fail to separate. Gliding motility defects. Resistant to infection by a number of F.johnsoniae bacteriophages
Embryonic lethality: arrest at the globular stage of embryo development
Reduction of TMTT, MeSA and (E,E)-alpha-farnesene emmission. No formation of (E)-beta-ocimene detected
Wrinkled leaves, stunted growth, delayed flowering and formation of age-dependent yellowing lesions (PubMed:21571669, PubMed:22041935, PubMed:23976921). Conditional phenotype with premature yellowing and constitutive reactive oxygen species (ROS) production in distinct peripheral areas of mature leaves when grown under moderate light intensity and low humidity. May partially evade the accumulation of H(2)O(2) via alternative oxidases (AOX) activity. Increased levels of AOX1A and AOX1D in leaf mitochondria. Increased level of ACO3 phosphorylation
A disruption in the mocA gene impairs MCD biosynthesis in E.coli, resulting in an inactive PaoABC aldehyde oxidoreductase devoid of MCD cofactor
No visible phenotype under normal growth conditions, but mutant plants exhibit decreased root basipetal auxin transport, faster root gravitropic response and increase in salt stress tolerance
Deletion mutant displays reduced tolerance to the cytotoxic effects of exogenous addition of succinic semialdehyde
Deletion mutants are defective in expression and secretion of type III secretion system-related exoproducts
No obvious defects during the vegetative developmental stage (PubMed:22897245). The double mutant lacking both APD1 and APD2 exhibits an increased percentage of bicellular-like pollen at the mature pollen stage (PubMed:22897245). Plants lacking APD1, APD2, APD3 and APD4 are defective for cell division in male gametogenesis resulting in severe abnormal bicellular-like pollen phenotypes (PubMed:22897245)
Affected root hair morphogenesis
Knockout mice lacking this gene exhibit small eyes or microphthalmia with an absence of normal lens structures, an abnormal chondrocyte development, with terminal differentiation of hypertrophic chondrocytes initially delayed, followed by a subsequent expansion of the hypertrophic chondrocyte domain in the growth plates of embryonic and postnatal long bones. They also show a lack of IL4 production
Growth is highly compromised in polyamine auxotrophic bacteria, but can be restored by exogenous spermidine, sym-homospermidine and to a lesser extent by sym-norspermidine
Leads to a dramatically decreased production of MPA and accumulates significant amounts of farnesyl-DHMP (FDHMP) in mycelia
Impairs pathogenicity on rice and barley leaves but does not affect appressorium formation (PubMed:11952120). However, fails to penetrate onion epidermal cells and to cause spreading lesions (PubMed:11952120). Reduces significantly the expression of the cell surface sensor MSB2 (PubMed:21283781)
Reduced seed production at 30 degrees Celsius, but not at 22 degrees Celsius
No visible phenotype under normal growth conditions, but mutant seedlings exhibit increased sensitivity to abscisic acid-induced inhibition of cotyledon expansion. The inhibition effect is more severe with the combination of abscisic acid and jasmonate
Inactivation of the gene increases M.tuberculosis susceptibility to the intramacrophage environment (PubMed:25899163, PubMed:20688819). Deletion mutant shows a significantly reduced ability to arrest the acidification of the phagosome (PubMed:20688819)
Triple nrfE-nrfF-nrfG deletion mutants no longer attach heme 1 (covalently attached to 'Cys-122', the CWSCK motif) of cytochrome c552 (AC P0ABK9)
Increased basal resistance to rice blast mediated by M.oryzae
Decreased photoautotrophic growth. Decreased assembly of PSII monomers and dimers, increased levels of the CP43-less intermediate. A double psbM-psbT mutants only assembles PSII monomers, not PSII dimers. A double psbM-psb27 mutant is incapable of photoautotrophic growth, but does assemble the CP43-less assembly intermediate. Cells are light sensitive and rapidly photoinactivated; recovery requires protein synthesis and can occur in the dark
Loss of DNA conjugation when disrupted in recipient strain, strain still secretes EsxB (PubMed:18554329)
Constitutive loss of function results in seedling lethality (PubMed:19383897). In conditionnal loss of function, aberrant secondary cell wall (SCW) formation of root vessel elements; this phenotype is stronger in double mutant plants lacking both TED6 and TED7 (PubMed:19383897)
Cells lacking this gene have severely reduced cytokine production in the mouse Listeria-infected liver cells compared to wild-type
Morpholino-injected embryos show severe disruption of the musculature with fragmentation of the muscle fibers, altered sarcomeric structure, loss of fiber integrity and accumulation of actin at the myosepta (PubMed:27745833). Disintegration of the myofibrils with mitochondrial infiltration of the resulting space, loss of Z-disk structures, and electron dense, nemaline-like bodies are observed by electron microscopy (PubMed:27745833)
Gene-null mice have smaller total brain area compared to wild-type animals, with specific reductions in the size of the corpus callosum, regions of the hippocampus, anterior commissure, and internal capsule. Only white matter structures are affected in mutant mice. There is a loss of myelination in these regions, but oligodendrocyte numbers are normal
Cells lacking this gene show a decreased lactate transport ability (PubMed:23799297). Deletion of this gene does not affect lactate racemase activity (PubMed:24710389)
AWB sensory neurons show an expanded fan phenotype caused by membrane expansion. Increase in trafficking and localization of tub-1 to AWB neuron cilia (PubMed:31259686). Increase in PPK-1 and PI(4,5)P2 at the AWB cilia membrane (PubMed:31259686). RNAi-mediated knockdown in AWB and AWC sensory neurons results in a defective preference between different food odors
Mutant containing a deletion in both hom and thrB is unable to grow in a defined medium lacking threonine
Inactivation of the gene leads to a reduction in sporulation efficiency
Exhibits an altered cell wall organization in addition to defects related to vegetative growth and tolerance to cell wall-perturbing agents (PubMed:27473315). Results in attenuated virulence in a neutropenic murine model of invasive pulmonary aspergillosis (PubMed:27473315). Leads to reduced conidiation during asexual differentiation (PubMed:32005734). Reduces conidial pigment DHN-melanin formation (PubMed:27393422). Strongly decreases the production of fumiquinazoline C (PubMed:33705521)
No visible phenotype under normal growth conditions, but hyperactive pollen germination
No visible phenotype. Mice are fertile and do not exhibit behavioral phenotype. Mice do not show decreased production of inflammatory cytokines such as TNF and IL6 upon LPS-stimulation. Mice lacking both Mapkapk2 and Mapkapk3 show further reduction of TNF production, compared to mice lacking only Mapkapk2. These data suggest that Mapkapk3 may function additively in stress-induced cytokine production. MAPKAPK3 knockdown homozygous mice develop Bruch's membrane abnormal thickening and thinning progressing with age (PubMed:26744326)
No visible phenotype under normal growth conditions, but mutant plants are hypersensitive to copper excess
Depletion of LMP2 by RNAi suppresses expression and activities of the matrix metalloproteinase MMP2 and MMP9 by blocking the transfer of active NF-kappa-B heterodimers into the nucleus
Leads to sensitivity to thiabendazole and microtubule depolymerizing drugs
Life span reduction
Recessive resistance to auxin conjugates indole-3-acetic acid-leucine (IAA-Leu) and IAA-Phe, but normal sensitivity to free IAA. Defective in lateral root formation and primary root elongation. Resistant to manganese- and cobalt-mediated inhibition of root elongation probably due to an enhanced ATP-dependent manganese transport
No visible phenotype under normal growth conditions, but mutant plants have compromised defense response induced by the bacterial elicitor elongation factor Tu (EF-Tu)
Mice are fertile and show no obvious anatomical or behavioral abnormalities. In horizontal cells of the retina tracer coupling is abolished but the spatial tuning of ganglion cells is unchanged
Mice heart of embryos show increased coronary vessel growth at 13.5 dpc and 15.5 dpc (PubMed:28890073). Double knockout mice of APELA and APLN genes exhibit the same penetrance, embryonic lethality and cardiovascular malformations as single APELA knockout mice (PubMed:28854362)
Cells lacking the operon including this gene (ytxGH-brxC) have increased S-bacillithiolation of glyceraldehyde-3-phosphate dehydrogenases (GAPDHs) GapA and GapB in cells with increased basal levels of oxidative stress due to concomitant deletion of genes encoding for catalase (katA) and alkyl hydroperoxide reductase (ahpCF)
Male sterility (PubMed:10973494, PubMed:19765234, PubMed:29291349). Fertility can be restored by exogenous jasmonate but not by 12-oxophytodienoic acid (PubMed:10973494, PubMed:19765234, PubMed:29291349). Large petals with altered vein patterning (PubMed:19765234)
Lethal in homozygotes (PubMed:19933202, PubMed:21705385). Non-Mendelian segregation of the mutant allele sec24a-1 due to defective male gametophytes (pollen grains) leading to a male-specific transmission defect (PubMed:21705385). In the missense recessive mutant sec24A (G92 mutation), altered endoplasmic reticulum (ER) structure with an abnormal distribution of critical component at ER export sites, thus leading to the partial accumulation of Golgi membrane proteins and a soluble secretory marker in globular structures composed of a mass of convoluted ER tubules that maintain a connection with the bulk ER (PubMed:19933202)
Early embryonic lethality: embryos do not survive beyond bastocyst stage due to defective epiblast and primitive endoderm lineages formation
Reduced cutin accumulation due to lower cutin biosynthesis. Early flowering in long-day conditions. Compromised pathogen-induced (e.g. Pseudomonas syringae pv. tomato DC3000 and PmaDG3) glycerol-3-phosphate- (G3P) and azelaic acid-(AA) dependent systemic acquired resistance (SAR). Increased tendencies in cellular damage after freezing treatment
Homozygous knockout mice for ABCA3 are die within one hour after birth (PubMed:17577581, PubMed:17540762, PubMed:17267394). Mice develop respiratory failure immediately after birth with clinical signs such as gasping, cyanosis, failure to achieve inflation of the lung as visible through the skin and reduced motor activity and (PubMed:17577581, PubMed:17142808, PubMed:17267394). Conditional knockout mice in which ABCA3 is deleted in alveolar type II cells die shortly after birth from respiratory distress related to surfactant deficiency but approximately 30% of these mice survive after birth and develop emphysema in the absence of significant pulmonary inflammation (PubMed:20190032)
Reduces the longevity-extending effects of nicotinic acid when exposed to 1 mM nicotinic acid (PubMed:24077178). Defective ascaroside-mediated responses with neither ascr#2 nor ascr#3 inducing lifespan extension or conferring thermotolerance (PubMed:23509272). Reduced germ cell apoptosis in the gonadal arms following DNA damage induced by UV-irradiation (PubMed:26598553). RNAi-mediated depletion results in an increase of 'Lys-16' acetylation of histone H4 (H4K16ac) on dosage-compensated X chromosomes in hermaphrodites (PubMed:22393255)
No visible phenotype, due to the redundancy with SPEAR2/TIE4 and SPEAR4/TIE3
Defects in the fatty acid composition
No production of demethylmacrocin
Mutant embryos show normal early stages of kidney development, but later stages of kidney development are disrupted (PubMed:7990960, PubMed:19830824). Mutant embryos develop to term, but the pups die within 24 hours after birth, probably due to the absence of functional kidneys (PubMed:7990960). Reproductive organs in newborn males appear normal (PubMed:9989404). External genitalia from newborn females appear normal, but they lack a Mullerian duct and their gonads and sex ducts appear masculinized (PubMed:9989404, PubMed:19830824). Their ovaries contain less than 10% of the normal number of oocytes, and these are in the process of degenerating (PubMed:9989404). Mutant embryos display altered patterning of tracheal cartilage rings. By 13.5 dpc the size of their lungs is significantly reduced, and at 17.5 dpc the left lung lobe is on average 35% smaller than for wild-type (PubMed:26321050)
Reduced growth and lower artemisinin levels
Viable. Reduced number of peripheral lymphocytes, however number of erythrocytes, platelets and neutrophils are normal. Translation levels in erythrocyte precursors are normal
Leads to expression of all var genes in the ring stage
Decreases cellular levels of Sm-class snRNPs and leads to abnormal splicing of a subset of introns (PubMed:24298023). Decreases vegetative cell population growth and leads to heat sensitivity (PubMed:24298023)
Loss of resistance to bacteriophage lambda infection, loss of plasmid silencing. Increased levels of 57 nucleotide crRNA and also 2 and 3 spacer-repeat units
Disruption completely abolishes the NADP reductase activity
Mice do not exhibit a noticeable circadian phenotype
Leads to the loss of pyrichalasin H production, but accumulates novel cytochalasans, all lacking a hydroxyl group at C-18
Mild increase in embryonic lethality of progeny of X-ray-irradiated adults (PubMed:22383942). Slightly more spherical nuclei (PubMed:25653391). Simultaneous knockout of emr-1 and lem-2 leads to embryonic lethality, 8.5% shorter animals in larval stage L2, abnormal gonads and a developmental stop at late L2/early L3 (PubMed:22171324). Missing cell divisions in the postembryonic mesodermal lineage and failure to produce any of the differentiated M lineage cells (PubMed:22171324). Defects in the organization of chromatin, nuclear intermediate filaments, and nuclear pore complexes (NPCs), and defects in mitosis in cells that continue to divide after embryogenesis (PubMed:22171324). In the mitotic zone of the gonad, lmn-1 and NPCs are mislocalized and nuclei are misshaped (PubMed:22171324). Misshaped nuclei with large lmn-1 aggregates, clustered NPCs and condensed chromatin in somatic hypodermal cells (PubMed:22171324). Defects in motility, sarcomere organization, and muscle attachment to hypodermis (PubMed:22171324). Decreased motility and near paralysis at day 6 (PubMed:22171324). Disorganized thin and thick filaments of sarcomeres and abnormally positioned muscles at day 3 and 6 (PubMed:22171324). Decreased pumping rate of the pharynx (PubMed:22171324). RNAi-mediated knockdown causes an increase in the number of nuclei with pha-4 bound to the pax-1 promoter; observed in pharyngeal but not intestinal cells (PubMed:20714352). Simultaneous RNAi-mediated knockdown of lem-2 and emr-1 causes anaphase chromatin bridges and redistribution of baf-1 from the nuclear periphery to the segregating chromatin during anaphase (PubMed:12684533)
Mice have no embryonic defect and are viable. They do not display obvious neuronal phenotype, possibly due to genetic redundancy with Mark1, Mark3 and Mark4. They however show an overall proportionate dwarfism and a peculiar hypofertility: homozygotes are not fertile when intercrossed, but are fertile in other types of crosses. They also show immune-cell dysfunction. As mice age, they develop splenomegaly, lymphadenopathy, membranoproliferative glomerulonephritis, and lymphocytic infiltrates in the lungs, parotid glands and kidneys. Moreover, mice are lean, insulin hypersensitive, resistant to high-fat-diet-induced weight gain, and hypermetabolic
Reduces gibberellins production and subsequent virulence during infection (PubMed:20572938). Reduces both the fusaric acid gene cluster expression and production of fusaric acid (PubMed:24389666)
Impairs the production of dothistromin (PubMed:18262779)
Mice do not show obvious abnormalities, but are more susceptible to infection by S.typhimurium, T.cruzi, T.gondii, L.monocytogenes, C.rodentium and M.tuberculosis (PubMed:11457893, PubMed:14576437, PubMed:32453761). Upon infection, alterations of blood elements occur including lymphopenia, anemia, and thrombocytopenia (PubMed:11457893, PubMed:14576437, PubMed:18371424). Mice become anemic and neutropenic as a result of chronic infection, and their hematopoietic stem cells are defective in the ability to reconstitute the blood of a Bone marrow-depleted host (PubMed:18371424). Mice display impaired expansion of activated CD4(+) T-cell population: defects are caused by Infg-mediated cell death of CD4(+) T-cells (PubMed:18806793). Mice also show increased inflammation with autoimmune features (PubMed:28154172, PubMed:28814662, PubMed:30612879, PubMed:32715615, PubMed:33510463). Macrophages show an increased production of proinflammatory cytokines associated with marked metabolic changes, characterized by increased glycolysis and an accumulation of long chain acylcarnitines (PubMed:28154172). Mice display autoimmune disorder reminiscent of Sjogren's syndrome, characterized by up-regulation of type I interferons (PubMed:28814662). Type I interferonopathy, characterized by up-regulation of type I interferons, is caused by activation of inflammation effectors, such as CGAS and NLRP3 (PubMed:30612879, PubMed:32715615, PubMed:33510463). Mice show an increased antiviral innate immune response and are highly resistant to chikungunya virus (CHIKV) infection (PubMed:34467632). Mice lacking both Irgm1 and Igtp/Irgm3 display resistance to Mycobacterium tuberculosis infection compared to Irgm1 mice that are highly susceptible to infection (PubMed:36629440). Mice lacking Irgm1, Irgm2 and Igtp/Irgm3 (panIrgm mice) show resistance against M.tuberculosis one month post-infection; then, panIrgm mice display higher bacterial burden and altered cytokine during late stage of infection, leading to increased mortality (PubMed:36629440)
Reduced plant size, and reduced levels of sugars in anthers leading to defective anthers and male sterility when grown under short day (12 hours light) conditions (PubMed:20305120, PubMed:23256151). No male sterility phenotype when grown under long day (14 hours light) conditions (PubMed:23256151)
Cells lacking this gene abolished the residual aconitase activity of an AcnAB-null strain
No effect
Mutant mice appear grossly normal and are fertile (PubMed:7816096, PubMed:8987814). NMDA channel currents are decreased in mutant brain slices. Contrary to wild-type, where tetanic stimulation leads to a strong long-term increase in synaptic strength, only modest long-term synaptic potentiation is seen in mutant mice (PubMed:7816096). Mossy fiber granule cells from mutant mice present a decrease of the slow component of the excitatory postsynaptic current (PubMed:8987814). The slow component of the excitatory postsynaptic current is nearly abolished in mossy fiber cells from mice lacking both Grin2a and Grin2c (PubMed:8987814). Mutant mice present subtle deficits in spatial learning (PubMed:7816096). Mice lacking both Grin2a and Grin2c display subtle motor deficits; they have no visible phenotype when performing simple tasks, but have decreased ability to walk across a narrow wooden bar, and are unable to stay on a rapidly rotating rod (PubMed:8987814)
Embryogenesis arrest at the midglobular stage
Deficiency in glucose utilization and/or glucose intolerance in the absence of light; no longer grows if less than 6/24 hours of light is furnished during mixotrophic (MT) growth on glucose, no heterotrophic growth (in complete darkness). Accumulates glycogen under MT growth, but seems unable to utilize it. No expression of phytochrome or its response regulator (cph1 and rcp1)
No visible phenotype. Null male mice produce an increased number of sperm and show enhanced fertility
Abolished rosette shoot development, reduced inflorescence with several flowers lacking petals, and differentiation of the apical meristem from indeterminate to determinate growth by producing a single terminal flower on all nodes. Altered inflorescence-to-flower transition. Degenerated flowers with only carpelloid structures capped with stigmatic papillae but lacking leaves, petals and stamen. Derepressed seed development program. Decreased H3K27me3 marks but increased H3K4me3 marks on target gene loci (PubMed:23632855). Plants missing both EMF1 and ULT1 have rescued normal H3K27me3 marks and H3K4me3 marks (PubMed:23632855)
TRIM60-deficient mice show an elevated immune response to LPS-induced septic shock and L. monocytogenes infection
Severe defect in olfactory plasticity in response to the odorants benzaldehyde, isoamylalcohol, diacetyl and pyrazine
Decreases capsular diameter (PubMed:32743128). Decreases extracellular vesicle secretion (PubMed:32743128)
Leads to complete abolishment of the production of benzomalvins A and D
Cells lacking this gene show serine auxotrophy when grown in a synthetic MP medium, in contrast to wild type. Addition of L-serine to the medium restores growth of the deletion mutant
RNAi-mediated knockdown causes abnormalities in oocyte development, including degrading oocytes in the proximal gonadal arm and ectopic developing oocytes in the distal arm (PubMed:20736289). RNAi-mediated knockdown targeted to the soma, on an rrf-1 mutant background, exhibits only a slight increase in the frequency of oocyte defects (PubMed:20736289)
Mice develop normally without obvious somatic defects but males are sterile due to malformation of the sperm flagella. Sperm cells display defects in the number and location of the head-tail coupling apparatus and lack flagellated sperm
No effect in wild-type, but required for optimal growth in strains lacking the ZnuABC zinc uptake system
Male sterile. Defective in pollen exine and anther epicuticular layer development
Decreases the production of 2,4'-dihydroxy-3'-methoxypropiophenone and but leads to the accumulation of 4'-hydroxy-3'-methoxypropiophenone
Embryonic lethality with the neuroepithelium of developing neural tube exhibiting low numbers of neural stem cells and high levels of apoptosis. No effect on cytoskeletal integrity
Mice develop normally without obvious somatic defects but males and females are sterile. Although spermatocytes are present in testis tubules at epithelial cycle stage III-IV, they undergo apoptosis by the end of stage IV, and post-meiotic cells are not found in testes, suggesting that spermatocytes are eliminated at a stage equivalent to mid-pachytene. In females, ovarian development is grossly normal, eggs fertilize and embryonic development arrests at blastocyst stage due to aneuploidy
No visible phenotype in normal conditions, but mutant mice are sensitive to ionizing radiation (PubMed:12727891). Following alkylating agent treatment, cells show increased post-replicative genomic instability, G2/M accumulation and chromosome missegregation accompanying kinetochore defects (PubMed:12727891). Mice lacking both Parp1 and Parp2 are not viable and die at the onset of gastrulation (PubMed:12727891). Female mice lacking both Parp1 and Parp2 in the uterus display infertility; defects are caused by decidualization failure and pregnancy loss (PubMed:34580230)
Impairs the production of both beauvericin and bassianolide
Prevents BCR-induced activation of NF-kappa-B
Sterility owing to depletion of germ cells
Small and chlorotic plants with altered cuticule and reduced levels of fatty acids in leaves
Viable. Double knockout with rei-1 results in a smaller brood size, weak embryonic lethality and severe mislocalization of rab-11.1 and prolonged cytokinesis in embryos
Plants do not show any phenotype alteration, but leads to higher seed carotenoid content
Mice show an advanced phase shift (around 4 hours) in the expression of DBP, NR1D1 and PER1 genes in the liver. Double knockouts of CRY1 and CRY2 show slightly decrease body weight and lose the cycling rhythmicity of feeding behavior, energy expenditure and glucocorticoids expression. Glucose homeostasis is severely disrupted and animals exhibit elevated blood glucose in response to acute feeding after an overnight fast as well as severely impaired glucose clearance in a glucose tolerance test. When challenged with high-fat diet, animals rapidly gain weight and surpass that of wild-type mice, despite displaying hypophagia. They exhibit hyperinsulinemia and selective insulin resistance in the liver and muscle but show high insulin sensitivity in adipose tissue and consequent increased lipid uptake. Mice display enlarged gonadal, subcutaneous and perirenal fat deposits with adipocyte hypertrophy and increased lipied accumulation in liver. Mice show loss of circadian rhythms in photopic ERG b-wave amplitudes, visual contrast sensitivity and pupillary light responses, with reduced robustness and stability of bioluminescent rhythms (PubMed:29561690). Both single CRY1 knockout and double CRY1 and CRY2 knockout mice show increased exercise performance and increased mitochondrial reserve capacity in primary myotubes (PubMed:28683290)
Cells that have a abcG2-abcG18 disruption have an endocytosis rate roughly 70% that of wild-type (or rtoA disrupted cells). Disruption on abcG2-abcG18-rtoA cells have an endocytosis rate roughly 20% that of wild-type. The exocytosis rates of abcG2-abcG18 and abcG2-abcG18-rtoA disrupted cells are roughly that of wild-type; abcG2-abcG18 endosomes have an unusually high pH, whereas abcG2-abcG18-rtoA endosomes have an almost normal pH
Null mice possess cardiomyocytes with deficiencies in the junctional membrane complexes and have abnormal Ca(2+) transients (PubMed:10949023, PubMed:19095005, PubMed:21339484). Mice die from cardiac arrest at 10.5 dpc (PubMed:10949023)
Severely attenuated chloroplast movements under low- and high-light fluence, leading to evenly distributed chloroplasts in leaf mesophyll in pmi1-1 (PubMed:16113226, PubMed:25154696). Severe defects in both chloroplast and nuclear photorelocation movements resulting from the impaired regulation of chloroplast-actin filaments in pmi1-5 (PubMed:26324877). Reduced response to water-deficit and abscisic acid (ABA) treatments. The mutants pmi1-3 and pmi1-4 are hypersensitive to ABA during seed germination, but not pmi1-1, which is hyposensitive. Chloroplasts of pmi1-3 have altered chloroplast movements in low light (PubMed:25154696)
Deletion of the gene abolishes urate-degrading activity
No visible phenotype under normal growth conditions or UV-A irradiation stress
Brain-specific gene disruption gives rise to no visible phenotype at birth. Mutant mice have normal weight at birth, but then show decreased weight gain over the next few days, decreased milk uptake, impaired motor skills and impaired ultrasonic vocalization after maternal separation
Results in a significantly enhanced level of extracellular gibepyrone A
Dwarf phenotype. Heat-sensitive phenotype. Early flowering under short day. Elevated level of salicylic acid (SA), increased expression of pathogenesis-related (PR) genes and increased resistance to the bacterial pathogen P.syringae. ABA hypersensitivity during seed germination primary root growth. Exaggerated prototypical Pi-starvation responses, including increased root-shoot mass ratio and greater anthocyanin accumulation (PubMed:15894620)
Knockout mice are viable and fertile (PubMed:25729399). They have higher percentage of early bone marrow B-cells, but a reduced fraction of marginal zone B-cells. Their percentage of thymic CD4(+) T-cells is increased and they show an altered of morphologymarginal metallophilic macrophages (PubMed:25729399)
DBTO2 but not 2-HBP is detected following growth on DBT
No effect on biofilm formation
Mutants display a selective and highly significant fear of novel objects and increased stereotypic behavior as well as impairment of motor learning (PubMed:26969129). They show a nicrease in multiple synapses in the hippocampus and cerebellum (PubMed:26969129)
Mice show embryonic lethality around stage 6.5 dpc shortly after implantation. Mice lacking maternal Bysl transcript upon injection of siRNA into fertilized eggs are arrested at the 16-cell stage, fail to induce trophectoderm, and show altered morphology of developing nucleoli. Embryonic stem cells lacking Bysl show accumulation of pre-20S rRNA precursors and a reduction of 40S ribosomal subunits in the cytoplasm
Mutant mice present pathological signs characteristic of primary ciliary dyskinesia (PCD), including high prevalence of microtubular defects, significantly decreased ciliary beat frequency, hydrocephalus, abnormal spermatogenesis, mucus accumulation in the paranasal passages, and exacerbated respiratory responses upon allergen challenge. This phenotype arose serendipitously in the process of generating transgenic mice harboring a heme oxygenase 1 construct, due to the serendipitous disruption of Ak7 locus by the transgene insertion event (PubMed:18776131). Mutant testes reveal the absence of flagellum structures, compared with those from control littermates. In mutant testes, nearly all sperm heads are attached to cytoplasmic mass and not prolonged by flagellar structures, such as mitochondrial sheath, fibrous sheath and axoneme. In mutant epididymes, very few sperm structures are observed. The rare sperm flagellum observed show an absence of the central pair of microtubules (PubMed:29365104)
Cyc mutants don't display PER and TIM cycling, and are completely arrhythmic
Reduces the density of caveolae
Deletion of the ywqH-ywqI-ywqJ-ywqK-nfi operon has no visible phenotype, however it is out-competed by wild-type cells
Single gene deletion does not form normal carboxysomes, and does not grow in normal air but in 2% CO(2), called a high-CO(2) requiring phenotype, HCR. CcmK2 and RuBisCO are targeted to an abnormal large polar body in some studies, RuBisCO is soluble in others (PubMed:8491708, PubMed:17675289, PubMed:20304968, PubMed:22928045, PubMed:28963440). When ccmL-ccmM-ccmN-ccmO are deleted no carboxysomes form, cells are HCR and RuBisCO is soluble (PubMed:8491708)
Deletion mutant shows increased production of SMK
Knockout mice are viable but only males are fertile (PubMed:7649481). Neonates frequently develop spontaneous hemorrhages, but in spite of this over 90% of mice survive the neonatal period (PubMed:7649481). However only half survive beyond 70 days of age; lethality is most often due to intra-abdominal hemorrhage (PubMed:7649481). Pregnancy in female mice fails at around 10 days of gestation, associated with severe intrauterine bleeding (PubMed:7649481). Secondary loss of FGB and FGG from circulating blood is observed, although FGB and FGG mRNA is normally expressed in hepatocytes (thought to be the main site of fibrinogen synthesis) (PubMed:7649481). In vitro, blood fails to clot and platelet aggregations do not form (PubMed:7649481). In vivo, platelet aggregation in injured arterioles initially occurs normally although thrombi are unstable and readily embolize (PubMed:10930441). In double knockouts of FGA and VWF, platelet aggregation is delayed and thrombi frequently embolize (PubMed:10930441). Mice succumb more rapidly to Y. pestis infection, associated with increased bacterial loads in liver and lung; however induction of the inflammatory response factors TNF, IFNG, CXCL1, and LCN2 is not affected (PubMed:23487423). Mice succumb more rapidly to T. gondii infection, with increased hemorrhagic pathology; however parasite numbers are not significantly increased and induction of the inflammatory response markers IL12, IFNG, TNF, IL10, and nitric oxide is not affected (PubMed:12629066). Mice succumb more rapidly to L. monocytogenes infection, with increased hemorrhagic pathology and increased bacterial burdens in hepatic tissue; however there is little effect on peritoneal bacterial numbers or bacterial dissemination to other tissues, and also no effect on induction of the inflammatory markers IFNG, TNF and NOS2 (PubMed:15972474)
No visible phenotype under normal growth conditions, but the double mutants smd3-a and smd3-b display embryonic lethality
Early embryos of null mice are defective in somitogenesis. At 8.5 dpc, embryos are of normal size and appearance but somites adjacent to the presomitic mesoderm (PSM) are fused. In 8.25 dpc embryos, expression of NOTCH target genes such as HES5 and JAG1 as well as LFNG and UNCX4.1 is severely reduced in somites. There is up-regulation of a number of these genes such as HES5 and LFNG as well as DLL1 and NOTCH1 in the neural tube and brain. Mice die at midgestation with severe defects in somitogenesis, vasculogenesis, cardiogenesis and neurogenesis
Cells lacking this gene grow very poorly at 15-20 degrees Celsius, and accumulate an abnormal large ribosomal subunit and precursor-23S rRNA (PubMed:15148362, PubMed:8552679, PubMed:25777676). A double bipA-deaD deletion has a more severe growth and ribosome phenotype than either single deletion, but the same level of pre-23S rRNA as the single deaD deletion (PubMed:25777676)
Fishes display the backstroke phenotype. Mutant fish exhibit otolith agenesis without additional effects on the sensory epithelium or other inner ear structures. Otoliths are essential for the perception of gravity and acceleration. Larvae without otoliths are unable to orient dorsal side up and rest mostly on their side in contact with the ground
Deficient mice exhibit abnormal retinal cone cell morphology, impaired cone and rod electrophysiology, and severe retinal cone cell degeneration. GUCY2E and GUCY2F double knockout mice does not show any photoresponse, their rods and cones degenerate and the intracellular transport of some phototransduction proteins is impaired
No visible phenotype. Mice are viable and fertile and display no overt developmental defects and no general change in cancer susceptibiliy
Mice do not show remarkable changes in body weight or the weight of white adipose tissue on a chow diet, but display significantly lower body weights and fat mass than wild-type mice when fed a high-fat diet. Moreover, improved insulin resistance induced by the high-fat diet is observed
No visible phenotype. Alters response of phagocytes to stimulation with bacterial lipopolysaccharide (LPS)
Leads to a slight reduction in the vegetative growth rate and a significant increase in conidiation
Flies display disrupt centromeric sister chromatid cohesion very early in division. This failure of sister chromatid cohesion does not require separase and is correlated with a failure of the cohesin component Scc1 to accumulate in centromeric regions
In a cholestasis model, mutant mice show decreased survival rate associated with excessive accumulation of bile acids in liver
Mice are unfertile in both sexes. Testis weight is significantly lower. Mice males show a depletion of late prophase spermatocytes. are depleted of post-meiotic cells and their weight is significantly lower
NFIB knockout results in failure of lung maturation, and severe defects in development of the corpus callosum, specific midline glial populations, the hippocampus and the pons. GFAP expression is reduced in brains of NFIB-null mice (PubMed:15632069). Conditional NFIB knockdown in the telencephalon results in significant enlargement of the cerebral cortex with preservation of overall brain structure and inter-hemispheric connectivity (PubMed:30388402)
Remains fully pathogenic on sensitive plants, suggesting the bacteria produces other pathogenicity factors
Results in a significant reduction in leporin C and absence of detectable amounts of leporin B (PubMed:26051490)
Morpholino knockdown leads to the formation of pronephric cysts and hydrocephalus, features consistent with a ciliopathy
Leads to increased susceptibility to fluconazole (PubMed:18312269). Leads also to increased susceptibility to 4-nitroquinoline-N-oxide (4-NQO) (PubMed:18312269)
Decreases the level of CSE4/CENP-A at centromeres (PubMed:32079723). Decreases internucleosome spacing at protein-coding genes (PubMed:25406467). Decreases localization of RNA polymerase II to the histone HTA1-HTB1 gene locus during the G1/S transition (PubMed:22156209). Decreases HTA1 RNA level (PubMed:19683497). Heterochromatin spreading downstream of the silent mating-type locus HMR (PubMed:16079223). Decreases cell population growth; simultaneous disruption of proteins required for maintaining centromere and kinetochore function, including CLH4 and CBF1, enhances the growth defect (PubMed:32079723)
(Microbial infection) Increased resistance to plum pox virus (PPV) strain D
No visible phenotype under normal growth conditions, but the double mutants seu and slk2 show severe embryonic and seedling defects characterized by a loss of all structures derived from the shoot apical meristem (SAM) (PubMed:20007451). Enhanced tolerance to salt and osmotic stress conditions (PubMed:24564815)
Knockout results in ectopic AMsh glial cells and also ectopic amphid socket (AMso) cells, another type of glia, from a different cell lineage (PubMed:32665354). Some animals are missing dorsal, but not ventral, CEPsh glial cells (PubMed:32665354). Mean number of ectopic AMsh glial cells increases on cnd-1 or ngn-1 mutant backgrounds (PubMed:32665354)
Increases cellular levels of reactive oxygen species (ROS) (PubMed:32344528, PubMed:32599138). Decreases cellular levels of triacylglycerol during oxidative stress (induced by nitrogen deprivation) (PubMed:32599138). During oxidative stress (induced by rose bengal or nitrogen starvation), increases expression of genes involved in energy generation and decreases expression of genes involved in photosynthesis, flagellar processes and iron transport (PubMed:32344528, PubMed:32599138). Sensitive to photooxidative stress (induced by rose bengal) (PubMed:32344528)
Embryonic lethality. Mice with a milder mutant caused by an internal in-frame deletion of exon 11, producing a 14-amino acid deletion prior to the RING-type zinc finger, display profound early-onset and progressive neurological and motor dysfunction
Disruption blocks the export of at least five twin-arginine-containing precursor proteins that are predicted to bind redox cofactors, and hence fold prior to translocation. Disruption does not affect the Sec pathway
Knockdown in cultured hippocampal neurons shows a complete disruption of the assembly and function of the neuronal acetylcholine receptor subunit alpha-7 (CHRNA7)
Dwarf, narrow leaf, lesion mimic, low tillering and late heading phenotypes
Viable, and not temperature sensitive (PubMed:15238518). Failed degradation and diffuse cytoplasmic localization of the P-granule component pgl-1 in the somatic cells of embryos (PubMed:19167332). Increased germ cell apoptosis in gonadal arms, and this is further increased following UV irradiation (PubMed:26598553). Double knockout with pgl-1 results in 37% of progeny arresting as late embryos and 9% as larvae at 26 degrees Celsius (PubMed:15238518). Double knockout with pgl-1 enhances the temperature-sensitive sterility phenotype and germline defects of the pgl-1 single knockout (PubMed:15238518, PubMed:26598553). Germline defects include increased apoptosis in the gonad, fewer germ nuclei, no sperm and no oocytes in the gonad arms (PubMed:15238518, PubMed:26598553). The gonads of the double knockout with pgl-1 degenerate as the adults age (PubMed:15238518). Conversely, double knockout with ced-1 results in reduced somatic cell apoptosis (PubMed:27650246). Triple knockout with pgl-1 and pgl-2 results in 58% of progeny arresting as late embryos and 5% as larvae at 26 degrees Celsius (PubMed:15238518). Triple knockout with pgl-1 and him-3 further reduces the number of self-cross progeny as compared to the pgl-1 and him-3 double mutant and him-3 single mutant (PubMed:15238518). Double RNAi-mediated knockdown with pgl-1 results in a reduced number of pos-1, mex-1 and glh-1 positive granules in embryos (PubMed:21402787). Quadruple RNAi-mediated knockdown with glh-1, glh-4 and pgl-1 results in offspring that display 27-89% sterility, abnormal oocytes and do not have embryos in the uterus (PubMed:24746798). These sterile offspring still produce sperm (PubMed:24746798). Furthermore, these offspring may have compromised P-granule integrity as there is diffuse cytoplasmic localization of the P-granule component deps-1, which may cause germ cells to initiate somatic reprogramming (PubMed:24746798). RNAi-mediated knockdown in a double ced-1 and hpl-2 mutant background rescues the reduced somatic cell apoptotic cell defect in the ced-1 and hpl-2 double knockout at 25 degrees Celsius (PubMed:27650246)
Dwarf, albino, lesion mimic and low fertility phenotypes
Maternal-effect lethality and sterility (PubMed:17215300). Primordial germ cells (PGCs) do not proliferate normally and death of germ cells may be as a result of necrosis or increased apoptosis (PubMed:17215300, PubMed:22212480). Increased proportion of oocytes with fragmented chromosomes as a result of irradiation (PubMed:22212480). Tumorous germline phenotype that is suppressed on a rfp-1;glp-1 double mutant background (PubMed:25564623). Germline progression from leptotene/zygotene to pachytene is defective (PubMed:22212480). Perinuclear anchoring of heterochromatin in intestinal or hypodermal cells is disrupted and exacerbated on a cec-4 mutant background, but is partially blocked by RNAi-mediated knockdown of cbp-1 or atf-8 (PubMed:31118512). RNAi-mediated knockdown causes defective homologous chromosome pairing, complete absence of the germline in almost all adult F1 progeny and slight underdevelopment of the somatic gonad (PubMed:12175490, PubMed:22172672). RNAi-mediated knockdown strongly blocks mitosis of PGCs at early larval stages, and the arrested PGCs may degenerate during late larval stages (PubMed:12175490). RNAi-mediated knockdown induces germ cells to undergo conversion into neuron-like cells (PubMed:30425042). RNAi-mediated knockdown causes a slight increase in levels of the constitutive heterochromatin mark, trimethylated histone H3 'Lys-9' (H3K9me3), and an increase of acetylated histone H3 'Lys-14' (H3K14ac) (PubMed:30425042). Simultaneous RNAi-mediated knockdown of mep-1 suppresses the ectopic expression of pgl-1 protein and the overexpression of pgl-1 mRNA in larvae (PubMed:17215300). RNAi-mediated knockdown induces germ cell apoptosis; however, on clk-2 or cep-1 mutant backgrounds apoptosis is reduced substantially (PubMed:22212480)
Mice exhibit severely impaired development of all lymphoid lineages, compromised antibody responses to immunization, reduced cytotoxic T-cell killing activity and natural killer (NK) cell function, and resistance to cytomegalovirus infection (PubMed:31073040). T-cells are predisposed to apoptosis and die in response to antigen-specific or homeostatic expansion signals (PubMed:31073040). Impaired differentiation of hematopoietic stem cells into the lymphoid primed multipotent progenitor (LMPP) and common lymphoid progenitor populations that give rise to T-cells, B-cells, and NK cells (PubMed:31073040)
Mice are sub-viable and die between embryonic day 18.5 and shortly after birth. They show intrauterine growth retardation and a high percentage of ventricular septal cardiac defects
Entirely abolishes the secretion of proteins from both type III and type VI secretion systems, T3SS and T6SS, respectively. Transcription of phoB is reduced by about 25% compared with wild-type. Transcription of esrC is completely abolished. Transcription of fur is increased
Deletion has no effect on PSII activity
Abolishes the production of ent-pimara-8(14),15-diene (PD)
Viable, with no visible phenotype (PubMed:29886128). Knockout combined with RNAi-mediated knockdown of cdk-11.1 at the L1 stage of larval development results in sterility (PubMed:29886128). Knockout combined with RNAi-mediated knockdown of cdk-11.1 at the L4 larval stage results in fertile adults that produce few viable embryos (PubMed:29886128)
Knockout mice generated by CRISPR-Cas9-mediated gene editing are born at the expected Mendelian rate. Compared to wild-type littermates, mutant mice show slightly reduced body weight and increased serum cholesterol levels
Mutant is more sensitive to nutrient deprivation conditions and exhibits an early senescence phenotype. Prevents autophagosome formation during starvation. More sensitive to methyl viologen (oxidative stress) treatment and accumulates a higher level of oxidized proteins compared to wild type. High sensitivity to salt and osmotic/drought stresses. Displays an enhanced resistance to the powdery mildew pathogen G.cichoracearum with mildew-induced cell death and an enhanced resistance to P.syringae DC3000 but shows an enhanced susceptibility to infection with necrotrophic A.brassicicola and B.cinerea pathogens
Gametocyte maturation is delayed (PubMed:31734953). No defect in exflagellation of male gametes, formation of macrogametes and zygotes following gametocyte activation (PubMed:31734953). At the ring stage, levels of phosphatidylcholine are increased (PubMed:31734953). Dispensable for asexual blood stage growth (PubMed:31734953)
Deletion of hfq seems to lead to a significant translational fidelity problem. Deletion increases persister cell formation (PubMed:19909729). Deletion abolishes the antitoxin activity of sRNA antitoxin RalA, preventing it from neutralizing toxin RalR (PubMed:24748661)
Defects in long term memory after olfactory learning
Single gene deletion, no effect on magnetic response, the magnetosome chain or MamK filaments. A double mamJ/limJ deletion has wild-type magnetic response, but forms large gaps in the magnetosome chains reminiscent of the mamK deletion. MamK forms bundles in these gaps, but the MamK filaments are no longer dynamic
Worms show a weak masculinization phenotype (PubMed:8293978). Moreover sel-10 mutants suppress the egg laying defective (egl) phenotype of the sel-12 mutants (PubMed:8293978). RNAi-mediated knockdown results in increased zyg-1 expression at centrosomes (PubMed:22623721)
Abnormal poly(A)-site selection of ssm4 (PubMed:30651569). Decreases degradation of mRNA containing a DSR (determinant of selective removal) region (PubMed:26942678). Increases levels of mating and meiosis specific transcripts (PubMed:26942678, PubMed:30651569, PubMed:31974447). Increases expression of ncRNAs responsive to environmental and developmental signals (PubMed:30651569). Decreases expression of antisense RNAs, intergenic RNAs, tRNAs and 5S rRNA (PubMed:30651569). Decreases heterochromatin formation at meiotic heterochromatin islands (PubMed:26942678, PubMed:30651569). Decreases heterochromatin formation at rDNA (PubMed:26942678). Decreases mating efficiency (PubMed:26942678, PubMed:30651569). Decreases vegetative cell population growth (PubMed:23145069, PubMed:26942678, PubMed:31974447). Sensitive to cold (PubMed:26942678, PubMed:30651569, PubMed:31974447). Sensitive to sorbitol (PubMed:23145069). Sensitive to hydroxyurea (PubMed:23145069). Sensitive to sodium dodecyl sulfate (PubMed:23145069). Normal growth at high temperature (PubMed:30651569). Curved vegetative cell (PubMed:23145069). Increases cell cycle arrest in mitotic G1 phase in response to nitrogen starvation (PubMed:23145069). Abolishes mei2 nuclear dot formation (PubMed:26942678). Simultaneous deletion of mei4 suppresses cold sensitivity (PubMed:26942678)
Mutant has altered cell wall lipid composition, reduced membrane permeability and altered biofilm formation. It accumulates the mycolic acid-containing precursor mycolyl phospholipid (MycPL) and fails to export MMDAG and mycolate ester wax to the bacterial surface. Does not affect trehalose monomycolate (TMM) transport
Deletion mutant is not able to colonize the stomach in mice (PubMed:12933888). Shows also a significant loss of viability upon exposure to nitric oxide (PubMed:26082024)
Increases the susceptibility to gliotoxin (PubMed:24847038). Leads to complete deficient gliotoxin secretion but still retains the ability to efflux bisdethiobis(methylthio)gliotoxin (BmGT) (PubMed:26150413). Leads to increased survival of infected mice (PubMed:24847038)
Decreased extracellular K5 polysaccharide production at 37 degrees Celsius, increased extracellular K5 polysaccharide production at 20 degrees Celsius (PubMed:10781541). Cold-sensitive growth (20 degrees Celsius); cells have a long lag phase and double more slowly (PubMed:11683274, PubMed:18820021). Decreased capsule synthesis. Cold sensitive growth and decreased capsule synthesis are suppressed by an rluC deletion (PubMed:18820021). Cold-sensitive growth (20 degrees Celsius); a single bipA deletion has a disturbed ribosome profile at low temperature, with more 30S than 50S subunits, accumulation of a precursor-23S rRNA and precursor 50S subunit and decreased 70S ribosomes (PubMed:25777676, PubMed:30305394). These ribosome phenotypes are suppressed in an rluC deletion. A double bipA-deaD deletion has a more severe growth and ribosome phenotype than either single deletion (PubMed:25777676). At 20 degrees Celsius the single deletion is missing ribosomal protein L6 and has decreased amounts of L9 and L18 and makes less capsule. It has decreased motility at both 20 and 37 degrees Celsius (PubMed:30305394). Cold-sensitive growth (18 degrees Celsius); 2-fold more Uup is expressed at 37 degrees Celsius, 10-fold more Uup at 18 degrees Celsius. A double bipA-uup deletion does not grow at 18 degrees Celsius (Ref.12)
'Wingless-like' cuticular phenotype; reduced growth of imaginal disks and pattern defects
Deletion mutant loses its ability to grow on both D-xylose and L-arabinose
Viable and display no obvious neuroanatomical, morphological or locomotory abnormalities (PubMed:11493519). Lifespan reduced in an isp-1 or nuo-6 mutant background and extends lifespan in the short-lived gas-1 and mev-1 mutants (PubMed:28560849, PubMed:21713031). Expression of the G protein-coupled receptor sra-11 is normal in AIY neurons at the larval L1 stage, but drastically reduced in adults (PubMed:11493519). RNAi-mediated knockdown reduces lifespan in various mitochondrial mutant backgrounds, including isp-1;ctb-1, or clk-1 (PubMed:21713031)
Mutants show lack of Htr methylation
Dwarf with severe defects in reproduction, eventual arrest in embryo development that can occur at any stage of embryogenesis, distorted cotyledons, and upward curled leaves probably due to disoriented leaf polarity. Ectopic meristem-like outgrowths on the surface of cotyledons and leaves (PubMed:22058024). Abnormal expression of meristem-related genes and of leaf polarity-related genes (PubMed:22357616, PubMed:22058024). Heterozygote plants develop defective flowers and siliques on inflorescences sometimes terminated by the formation of carpelloid flower, and thus leading to a highly reduced self-fertility (PubMed:22357616)
No visible phenotype under normal growth conditions, but the double mutants glcnac1put1 and glcnac1put2 are lethal
Enhanced sensitivity to excess boron (B), to zeocin, which induces DNA double-strand breaks (DSBs), and to aphidicolin, which blocks DNA replication, probably due to the accumulation of DSBs. Reduced root length, especially in the presence of genotoxic stressors, with twisted shape, ectopic lateral root formation and dense root hairs, as well as short meristematic zones
Pharate pupae lethal. Larval muscles exhibit an increase in nuclear clustering
Larvae reach less than 60% of normal size and have fewer and smaller cells, the adults that survive exhibit normal body proportions and are healthy. In the brains excess serotonin and insulin accumulate, while peripheral insulin pathway activation is low
Neuronal ectopias and abnormal cortical lamination
Deletion mutant fails to secrete EsxA and EspB and replicates poorly in mice
Cells lacking this gene accumulate coproporphyrin-III only under anaerobic conditions
Mutant can still grow on nitrate, but it has a lower capacity for nitrate utilization, which limits the growth of the cells. Mutant cannot consume nitrite as rapidly as the wild type cells at pH 10
High level of lethality with a significant reduction in seam cell number. RNAi-mediated knockdown results in defects linked to cell fate determination including impaired hypodermal differentiation, fewer seam cells, possibly due to a change in cell fate, a molting defect in 10% of animals and male tail abnormalities, including reduced sensory ray number. The germline exhibits a mog (masculinization of the germline) phenotype with increased sperm numbers and largely absent oocytes in the gonad. Defective mitosis to meiosis switching and general impaired morphology in distal tip cells with abnormal extending processes (cytonemes) that are thicker and extend further into the proximal gonad from early stages of development
The integrity of the cell envelope in a lpp null mutant (double-knockout) is not affected
About 40% reduction in magnetosome alignment; a double mamK-mamK-like deletion has a 65% reduction in magnetosome alignment. The single mamK-like deletion has no effect on MamK turnover rates
Cells are sensitive to exposure to ethanol but not heat in stationary phase
Flies exhibit partial transformation of antenna toward leg identity. Ectopic expression causes partial transformation of distal leg structure toward antennal identity
Cells lacking this gene accumulate kanamycin
Obesity. Mice are normal at birth, with normal weight gain and post-weaning food intake during early life, although young males trend toward greater weight and food intake with advancing age. Mice of both genders gradually become extremely obese on a diet of regular chow ad libitum
No detectable phenotype in cif1-1. The double mutant cif1-1 cif2-1 is defective in ion homeostasis in the xylem due to defect in endodermal barrier formation in the roots. Highly sensitive to excess iron. Retarded growth under low-potassium conditions. Repeatedly interrupted, discontinuous Casparian strip due to patch-like localization of the CASPs proteins. Reduced rosette leaf size
Severe embryonic lethality associated with a high incidence of male progeny (PubMed:25340746). RNAi-mediated knockdown causes 20 percent embryonic lethality and 18 percent larval lethality (PubMed:11896188). Abnormal meiosis and mitosis leading to defects in gametogenesis and embryogenesis (PubMed:11896188, PubMed:25340746). In spermatocytes, defects in the organization of astral microtubules (PubMed:11896188). In oocyte meiosis I, defects in autosomal chromosome pairing resulting from abnormal synapsis (PubMed:25340746). In embryos, RNAi-mediated knockdown causes abnormal mitosis due to defects in astral microtubules organization (PubMed:11896188). In a gain of function mei-1 (ct46) or in mel-26 (ct61sb4) mutant background, RNAi-mediated knockdown partially rescues embryonic lethality without affecting mei-1 expression levels and localization (PubMed:19087961)
No visible phenotype under normal growth conditions, but seedlings have a strong decrease in glutamine and are resistant to the toxic acetate analog monofluoroacetic acid
No visible phenotype. Mutant mice are viable and fertile, but display impaired water homeostasis, with increased urinary flow, increased water intake, reduced urine osmolality and increased fecal water content. Mice display inclusions in the principal cells in the renal collecting duct (PubMed:19075008). Mutant mice display variable graying of their coat color and a dramatic reduction in the number of melanosomes in the retinal pigment epithelium (PubMed:21962903). According to PubMed:21803846, mutant mice display a defect in the Selp-dependent attachment of leukocytes to endothelial cells. According to PubMed:23945142, mast cells from mutant mice show decreased degranulation and decreased release of TNF in response to Ms4a2/FceRI stimulation, but no difference in mast cell degranulation in response to other stimuli and no change in the release of IL6 and leukotriene C4
No visible phenotype, magnetic response and magnetosome formation is wild-type (PubMed:20212111). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
RNAi-mediated knockdown at the L1 larval stage reduces brood size (PubMed:26739451). RNAi-mediated knockdown reduces expression of tph-1, which encodes a component of the serotonin synthesis pathway (PubMed:23457234). RNAi-mediated knockdown reduces the level of bed-3 and col-124 mRNAs and increases the level of lin-29 mRNA (PubMed:32417234). Simultaneous knockouts of swsn-2.2 do not survive beyond the L2 larval stage (PubMed:24402584). Simultaneous RNAi-mediated knockdown of swsn-2.2 at the L1 larval stage causes sterility, while at the L3 larval stage, causes embryonic lethality for the progeny (PubMed:26739451). The sterile animals resulting from simultaneous RNAi-mediated knockdown of swsn-2.2 at the L1 larval stage develop smaller germ lines (PubMed:26739451). Simultaneous RNAi-mediated knockdown of swsn-2.2 also results in vulva protrusion and ectopic expression of egl-17 in cells derived from the vulval precursor cells P5.p and P7.p (PubMed:26739451)
Produces less H(2) during fermentation on minimal glucose medium, but not on complex glucose or complex formate medium. Alters production of organic acids when grown on minimal glucose medium; complementation was not reported
Produces fewer branches per conidiophore and thus has significantly lower conidial yields
RNAi-mediated knockdown is lethal (PubMed:29285794). RNAi-mediated knockdown in the muscles impairs biogenesis of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:28683319). RNAi-mediated knockdown in neurons impairs neuronal ATP production, reduces locomotor activity and shortens lifespan (PubMed:29285794). In addition, results in large vacuoles in the retina, ommatidia disorganization and selective axonal alterations in mushroom bodies (PubMed:29285794). RNAi-mediated knockdown in glia results in large vacuoles and lipid droplets in both cortical region of the brain and optic lobes suggesting altered lipid metabolism; does not alter lifespan or behavior (PubMed:29285794)
Mice display a severe osteopetrotic phenotype characterized with an increased bone mass (PubMed:23980096). Show a reduction in the osteoclast surface/bone surface and eroded surface/bone surface ratio, but the osteoclast number/bone surface ratio is normal (PubMed:23980096). Show also a reduction in nuclei/osteoclast ratio (PubMed:23980096). Exhibit an impairment in TNFSF11//RANKL-mediated osteoclast fusion (PubMed:23980096). Show a slight inhibition of osteoblast differentiation (PubMed:23980096)
Newborn mice display mild skeletal abnormalities (PubMed:11702786). Mice lacking both Sox5 and Sox6 develop a severe chondrodysplasia characterized by the virtual absence of cartilage: chondrogenic cells are largely arrested at the stage of chondrogenic mesenchymal condensations (PubMed:11702786). Embryos lacking Sox5 (homozygous knockout) and heterozygous for Sox6 live until birth and show severe growth plate chondrocyte defects (PubMed:14993235). Embryos lacking Sox6 (homozygous knockout) and heterozygous for Sox5 live until birth and show severe growth plate chondrocyte defects (PubMed:14993235)
Cells are non-motile, flagellar filaments are severely truncated (PubMed:28659885). Strongly reduced levels of secreted flagellins FlaA, FlaB and FlaC (PubMed:28659885)
Male sterility due to aborted pollen grains with abnormal exine an intine, and defective aperture (PubMed:32284546). Aborted pollen grains with defective apertures and intine formation, and male sterility (PubMed:32284546)
Mutant shows increased sensitivity to chloramphenicol
TgrB1 and tgrC1 double mutants show strain segregation in chimeras with wild-type cells
Fish are viable during embryogenesis and early larval stages, but exhibit curvature of the body axis and hydrocephalus, and curled cilia in distal kidney tubules
Null cells grow normally during the vegetative phase and, when starved, migrate normally and form tight aggregates. Subsequently, however, null cells make aberrant fruiting bodies with short stalks and sori that remain unlifted. Aggregates are also unable to migrate as slugs, suggesting it is involved in mediating cell movement during multicellular stages of Dictyostelium development
One of the main features of pgi mutant is the overproduction of NADPH produced in pentose phosphate (PP) pathway which causes some reducing power imbalance that ultimately affects the cell growth. Cells lacking this gene grow slowly on glucose and utilize glucose primarily via the pentose phosphate pathway as the source of NADPH. They are also hypersensitive to oxidative stress induced by paraquat
Essential gene. Abrupt growth arrest prior to substantial depletion of ribosomal subunits. Fails to synthesize the 25S and 5.8S rRNA components of the 60S ribosomal subunit, and exonucleolytic 5' processing of 5.8S rRNA is strongly inhibited. Arrests at cytokinesis and fails to assemble a contractile actin ring at the bud neck
Dose-dependent altered root gravitropism associated with an altered PIN2 traffic that impairs the formation of auxin gradients, thus leading to an irregular waves root shape
Knockout mice are viable, morphologically normal, but males are sterile (PubMed:29866902, PubMed:29848638). Male mice exhibit small testes and epididymis (PubMed:29848638). Multinuclear syncytia present in the seminiferous tubules, with degenerated multi-chromocenter round spermatids and multinucleated giant cells in the epididymis lumen (PubMed:29848638). Increased numbers of apoptotic cells in the testes and epididymis (PubMed:29848638). Increased expression of CTNNB1, MYC, CCND1, and MMP7 in lung cells (PubMed:29739711). Increase in diplotene spermatocytes in the testes, indicative of defects in the later stages of meiosis (PubMed:29866902). Developmental failure of the large nuclear docking acrosome to develop during the cap phase of spermiogenesis (PubMed:29866902, PubMed:29848638). In addition disruption of proacrosomic vesicle translocation during spermatid differentiation results in the absence of elongating spermatids and therefore viable sperm (PubMed:29866902). No effect on transcription or processing of piRNA precursors (PubMed:29866902)
No visible phenotype. Uge2 and uge3 double mutant is almost completely sterile (PubMed:17496119)
Suckling mutant mice show inefficient fat digestion associated with fat malabsorption and decreased rates of weight gain
Normal magnetic response, many fewer magnetosomes. MamC is mislocalized in punctate spots throughout the cell (PubMed:24816605). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Early flowering phenotype under long day (LD) and natural day (ND) conditions. Decreased plant size, number of grains per panicle, yield and dry weight per plant
Partially penetrant phenotypes when temperature elevated to 25 degrees Celsius which include embryonic lethality, reduced brood size, egg retention and an increased incidence of males
Worms exhibit defects in endoderm specification and mitotic spindle alignment (PubMed:10444600). RNAi-mediated knockdown results in stability and delayed degradation of the maternal oocyte protein oma-1 in embryos beyond the 2-cell stage (PubMed:16289132)
Knockout mice die prematurely with no survivors past 12 weeks of age. This phenotype can be rescued by adding arachidonic acid (AA) to the diet
Expression is not seen in haploid cells where both copies of the gene are deleted and there is no discernible phenotype with respect to haplotype growth in strains with complete deletions. However, there is a complete absence of sexual development and strains fail to form dikaryotic filaments/spores. Where only a single copy is present in a wild-type and mutant mating pair sexual development is indistinguishable from a wild-type mating pair. Expression is up-regulated during sexual development
sterile due to extensive chromosome breakage in meiosis I
RNAi-mediated knockdown causes many hermaphrodite progeny to be vulval-less and so unable to lay eggs (PubMed:12091304). Few or none of the Pn.p cells remain unfused in hermaphrodites or males (PubMed:12091304). In some conditions, despite being present in their normal position at hatching, P cells fail to migrate into the ventral cord during the larval L1 stage (PubMed:12091304)
The mutant is unable to grow on gamma-resorcylate as a sole energy and carbon source
No visible phenotype under normal growth conditions, but mutant plants exhibit loss of tropic response to gravity when reoriented relative to the gravity vector in the cold
RNAi-mediated knockdown is largely embryonic lethal. Fertilized eggs show a metaphase-to-anaphase transition defective (Mat) phenotype. Arrest occurs at meiosis I at the one-cell stage of embryogenesis
Defects in DRC3 give the dc3 phenotype characterized by reduced swimming speed, increased flagellar beat frequency and abnormal flagellar waveform
Morpholino knockdown of the protein affects skeletal muscle development, resulting in abnormal facial and trunk muscle formation with defective aligment of muscle fibers and establishment of myotendinous junctions. A severe defect is observed in craniofacial muscle development, where many muscles are malformed or reduced in size. In the heart, pericardial edema is prevalent in the morphants with defective looping and misshaped chambers
Deficient mice exhibit ectopic motor neurons that migrate out of the ventral horn and into the motor roots
The petals are fused at the base, forming a tube that ends in the lobes
Reduces copper uptake and leads to altered cellular responses to extracellular copper such as deficient and copper and zinc superoxide dismutase activity (PubMed:7929270, PubMed:8756349). Results in profound deficiency in ferrous iron uptake (PubMed:8293472). Results in increased cisplatin resistance and reduced intracellular accumulation of cisplatin (PubMed:12370430). Exhibits marked sensitization to oxytetracycline (OTC) and doxycycline (DOX) (PubMed:11557497)
No visible phenotype. Mice develop and reproduc normally. Mice were followed for more than 2 years, without any alteration in normal lifespan or survival with or without sublethal irradiation
Homozygous larval lethal. Mutant embryos hatch into the first instar larvae, but die within 1 day. In mutant larvae midgut, a few septa are present at the cell contacts but large gaps between the lateral membranes of adjacent epithelial cells are frequently observed. Mutant larvae lack the three-layered structure of the proventriculus
Loss of H(2) production on minimal glucose, complex glucose and complex formate medium. Alters production of organic acids when grown on minimal glucose medium. This phenotype was not complemented by reintroduction of the ydfW gene
Deletion mutant is attenuated for growth and virulence in mice (PubMed:29382761). Deletion of the gene alters the NADH/NAD(+) ratio, suggesting that this enzyme has an important function in maintaining the redox status of the cell (PubMed:29382761). Mutant shows growth defects in vitro and is more susceptible to oxidative stress reagents, but not to potential NADH dehydrogenase inhibitors (PubMed:29382761). Was considered as an essential gene in vitro, but later studies show that ndh is not essential individually (PubMed:25128581, PubMed:29382761). The ndh-ndhA double knockout could not be obtained, suggesting that at least one type II NADH dehydrogenase is required for M.tuberculosis growth (PubMed:29382761)
Morpholino knockdown of the protein causes arrest of tooth development. Otherwise, mutant embryos appear grossly normal, excepting some cartilage abnormalities
Completely abolishes the 11'-deoxyverticillin A production and conidiation
Mice with conditional knockouts of either ATXN1-ATXN1L or CIC in the developing forebrain exhibit intellectual disability, hyperactivity, social-behavioral deficits and reduced thickness of upper cortical layers
Male gametophytic sterility (PubMed:30775776). Impaired growth and pollen germination associated with reduced glucosamine (GlcN) content, and lower tolerance to tunicamycin (Tm) (PubMed:30775776). Mutant plants exhibit also reactive oxygen species (ROS) production, cell death and a decrease in protein N-glycosylation (PubMed:30775776). Abnormal pollen grains due to defects in a polar deposition of pectin and callose in the pollen cell wall (PubMed:30775776). These phenotypes are suppressed by GlcN supplementation (PubMed:30775776)
Leads to defects in unfolded protein response
Loss of viability due to toxic accumulation of hydrogen sulfide, resembling methionine auxotrophy; cells can survive when grown at high density and at lower temperatures, simultaneous knockout of HSU1 exacerbates the effect (PubMed:36455053, PubMed:36379252). Increases expression of genes involved in sulfur assimilation, cysteine metabolism and methionine metabolism (PubMed:36455053)
No visible phenotype (PubMed:19372224, PubMed:19172180, PubMed:21781197, PubMed:25569774). Loss of chloroplastic glycosylase-lyase/endonuclease activity (PubMed:19372224). Hypersensitivity to 5-fluorouracil (PubMed:21781197). Ape1l arp double mutants have no visible phenotype (PubMed:19172180). Ape2 arp double mutants have no visible phenotype (PubMed:19172180)
Reduced root growth and respiration
Knockout animals are born at sub-Mendelian ratios. ADGRL1-null mice who survive to adulthood demonstrate stereotypic behaviors, sexual dysfunction, bimodal extremes of locomotion, augmented startle reflex, and attenuated pre-pulse inhibition, which respond to risperidone. Ex vivo synaptic preparations display increased spontaneous exocytosis of dopamine, acetylcholine, and glutamate, although ADGRL1-deficient neurons poorly form synapses in vitro
Female mutants show normal ovarian development up to third instar larval stage (PubMed:9851978, PubMed:9199372, PubMed:26808625). However, adult mutant ovarioles contain germaria lacking germline cells and containing two normal or abnormal egg chambers as result of the failure of germline stem cell maintenance (PubMed:9851978, PubMed:9199372, PubMed:26808625). In adult testis, results in deregulation of transposon silencing (PubMed:26808625)
Mice are fertile and appear to exhibit no gross abnormalities. However, they display increased aggregation of platelets in response to ADP. They also display a mild basal transepidermal water loss
Mice demonstrate retinal degeneration, failure of spermatozoa flagella formation, elevated blood pressure, olfactory deficits, and social dominance, but no polydactyly nor vaginal abnormalities. The phenotype closely resembles the phenotype of other mouse models of Bardet-Biedl syndrome (Bbs2 deficient and Bbs4 deficient). Obesity is associated with hyperleptinemia and resistance to the anorectic and weight-reducing effects of leptin. Although mice are resistant to the metabolic actions of leptin, mice remain responsive to the effects of leptin on renal sympathetic nerve activity and arterial pressure and develop hypertension. BBS mice have decreased hypothalamic expression of proopiomelanocortin (POMC). BBS genes play an important role in maintaining leptin sensitivity in POMC neurons
Growth defect under alkaline conditions and citric acid stress
Early flowering, and insensitivity to ambient temperature and to intermittent cold, but normal responses to vernalization and gibberellic acid
Deficient mice are viable, fertile, and do not show any histological abnormalities. Under stressed condition, 26S proteasome dissociates in wild-type cells, but not in cells from deficient mice
Reduces to 5% the production of fusaric acid (PubMed:25372119)
Chow-fed deficient mice display increased HDL-cholesterol level, accompanied by increased ABCA1 and MYLIP expression, increased oxysterols receptors LXR (NR1H3 and NR1H2) protein level without change in NR1H2/3 mRNA levels. Many NR1H2/3 targets are up-regulated, including ABCG5/8, SCD1, ELOVL5, INSIG2 and LPCAT3. Deficiency of TTC39B reduced processing of SREBP1 a pivotal regulator of lipogenesis. When fed with a high-fat/high-cholesterol/bile-salt diet during 20 weeks, used as a model of steatohepatitis resembling human non-alcoholic steatohepatitis, mice show increased HDL cholesterol and APOA1 levels, reduced VLDL (very low density lipoprotein), and reduced mortality compared with wild-type. The livers of deficient mice shown diminished hepatic triglyceride and cholesteryl ester accumulation, fewer inflammatory foci consisting of neutrophils and lymphocytes, less hepatocellular ballooning degeneration and less hepatocyte proliferation compared to control. Knockout mice lacking both TTC39B and LDLR, fed a Western diet for 20 weeks, exhibit a reduction in LDL-cholesterol, but plasma triglyceride levels are not different. Atherosclerotic lesion area of the aorta are reduced compared to LDLR single knockout mice
Conditional knockdown at the ring stage produces the development of mature schizonts and the subsequent release of merozoites from the host erythrocytes; however, the invasion of new erythrocytes by these merozoites is severely reduced due to a severe defect in adhesion to the erythrocyte membrane (PubMed:28680058). In merozoites, release of host glycophorin A/GYPA ligand EBA-175 from micronemes is impaired but not AMA1 (PubMed:28680058). In late schizont, phosphorylation of several proteins including GAP45, IMC1g and PKAr is reduced (PubMed:28680058). Reduced PKA activity (PubMed:28680058). Rhoptry protein RhopH3 phosphorylation and secretion are reduced in merozoites (PubMed:33024030)
Homozygous knockout mice lacking Aldh1l2 are viable and fertile and no embryonic lethality is observed (PubMed:33168096). They do not display phenotypic differences in terms of growth, food consumption and development (PubMed:33168096). 10-formyl-THF and dihydrofolate accumulate in the liver of the knockout mice. It is associated with a decrease in levels of NADPH and ATP specifically in the mitochondrion (PubMed:33168096). Male knockout mice accumulate more fats in the liver which is associated with impaired beta-oxidation of fatty acids (PubMed:33168096)
RNAi-mediated knock-down is mostly embryonic lethal. Embryogenesis proceeds more slowly, with embryos displaying defects in the positioning and shape of epidermal cells. Leo-1 partly mislocalizes to the cytoplasm, but nuclear localization of rtfo-1 is unaffected
Death during embryogenesis with a strong segment-polarity phenotype
Partial neonate lethality, due to defects in brain and neural tube development. In about one third of the embryos cranial neural folds fail to converge, leading to an open neural tube and exencephaly. Mice without exencephaly are viable and fertile
Knockout mice show no difference in growth rate, viability, fertility, progeny, life span, weight, organs, tissues and serum biochemistry (PubMed:31123035). Knockout females exhibit an increased in Cyp2c65 and Cyp2c66 gene expression, but not males (PubMed:32114507). Knockout mice exhibit a decreased plasma concentration of certain drugs administered orally such as fexofenadine and fluvastatin, whereas no difference were observed after intravenous administration (PubMed:31123035, PubMed:32114507). Also exhibit a decreased in the hepatic uptake of drugs erlotinib and mebrofenin after intravenous injection (PubMed:34205780). Don't show any difference in fluvastatin liver concentration after oral injection (PubMed:32114507)
Mutant mice dysplay impaired startle response to acoustic stimulus
Cells lacking this gene produce an active MCR lacking the C(5)-methylation of the respective arginine residue. The mutant strain shows impaired growth under stress conditions, such as the presence of 0.2 mM hydrogen peroxide (H2O2) or elevated temperature (42 degrees Celsius)
Leads to an enriched product formation (PubMed:22492438)
Mutant mice has normal litter size. At 12 months of age they show significant increase in body weight, which is partly due to fat accumulation in the liver with a subsequent increase in liver mass (PubMed:32092411). They display an abnormal red blood cell morphology, similar to macrocytic anemia characterized by fewer, larger and heterogeneous red cells (PubMed:32092412)
Mice are born at the expected Mendelian rate. Mutant female mice show severe infertility due to impaired cumulus oophorus expansion upon gonadotropin surge
RNAi-mediated knockdown causes cell growth arrest followed by death, loss of DHSp expression and a failure to sustain infection in mice
No visible phenotype under normal growth conditions, but mutant plants have increased resistance to the necrotrophic fungus Botrytis cinerea
Severe defects in the adult testis with hypoplastic testes and disorganization of seminiferous tubules and absence of germ cells, due to pre-meiotic germ cell death in testes. Sertoli cell fail to differentiate. Female mutant mice have normal ovaries and are fertile. Depending on the strain background mice also show testis teratomas: deletion in 129/Sv strain causes a high incidence of teratomas, whereas these tumors do not form in C57BL/6J mutant mice. Deletion of Dmrt1 during fetal development causes postnatal Sertoli cells to lose male-promoting Sox9 and instead activation of female-promoting genes such as Foxl2, leading to reprogrammation of Sertoli cells into granulosa cells. As a consequence, theca cells form, estrogen is produced and germ cells appear feminized
Deletion of this gene has no effect on mannose utilization
No visible phenotype (PubMed:22760640, PubMed:22540348). Increased frequency of aborted and misshaped pollen grains and decreased pollen germination (PubMed:22760640)
Reduced fertility upon self-pollination, producing polyads with an abnormal number of microspores during pollen formation (PubMed:22694475). Meiocytes are defective in homologous chromosome synapsis and segregation (PubMed:22694475). Homologous recombination is severely affected during meiotic prophase I (PubMed:22694475)
Floral organs remain attached to the plant body after the shedding of mature seeds despite a normal floral abscission zone development, including abnormal petal breakstrength (pBS) (PubMed:12972671, PubMed:23963677). Delayed cell-wall loosening during shedding associated with less pronounced and delayed abscission zone (AZ) cells rounding (PubMed:23963677)
Mutants are impaired in both chill-activated and osmotically activated carnitine transport
Defects in seedling development, root elongation, leaf expansion, flower morphogenesis and fertility due to defective cytokinesis in epidermal cells
Results in increased SigW expression which is dependent on SdpC. Results in weaker growth (70% of wild-type cell density) on LB medium, with more pronounced effects on sporulation medium (15% of wild-type). Concomitant deletion of SigW results in greatly diminished growth (5% of wild-type on LB and 3% on sporulation medium). Over time, single SdpI mutant stops growing on sporulation medium, while the SdpI SigW double mutant eventually lyses. Deletion of RsiW restores growth of the SdpI single mutant to near wild-type levels
RNAi-mediated knockdown results in gonadal detachment during gonad migration (PubMed:25437307). RNAi-mediated knockdown upon tunicamycin-induced ER stress in a cdc-48.1 and/or cdc-48.2 mutant background (insensitive to tunicamycin-induced ER stress) restores the expression of ER homeostasis regulator, ckb-2 (PubMed:25652260)
Grows more slowly than wild-type both heteroautotrophically and photoautotrophically, approximately wild-type amounts of PSII assemble
Larger plastoglobules associated with thylakoids characterized by VTE1 accumulation and high tocopherol content. The pale green double mutant atsia1 atosa1 accumulates ferritin and superoxides, exhibits an increased nonphotochemical quenching (NPQ), and have a reduced tolerance to reactive oxygen species (ROS) (PubMed:24117441). Lower levels of the highly unsaturated lipid digalactosyldiacylglycerol (DGDG) and of different forms of monogalactosyldiacylglycerol (MGDG) and kaempferol. The abc1k7 abc1k8 double mutant accumulates strong levels of oxylipin-conjugated MGDG and DGDG (PubMed:25809944)
No obvious morphological alteration during vegetative or floral development, but semi-sterile phenotype with several female gametophytes arrested before the first nuclear mitotic division of the haploid functional megaspore
Altered nicotine biosynthesis
Mice show abnormal embryonic neurogenesis
Results in high larval lethality in hermaphrodites, and survivors exhibit a XX-specific shorter and stouter body morphology (PubMed:18198337). Higher percentage of spontaneous males through X chromosome non-disjunction (PubMed:18198337). Increased number of crossovers, redistribution of crossovers and a reduction in crossover interference in meiosis (PubMed:18198337). Increased number of rad-51 foci in early to mid-pachytene indicating double strand break formation (PubMed:18198337, PubMed:19781752). Increase in X chromosome axis length indicating aberrant chromosome structure (PubMed:19781752). RNAi-mediated knockdown results in chromosome segregation defects in mitosis (PubMed:19119011)
~40% pupal lethality (PubMed:32923640). Male and female sterility with males showing extremely small testes and females showing extremely small ovaries (PubMed:32923640). Somatic and germline cells initiate differentiation but subsequent development is disrupted (PubMed:32923640). Adult testes contain spermatocytes but rarely contain elongated haploid spermatids (PubMed:32923640). In ovaries, most of the germline cells degenerate at the prepupal stage and the remaining germline cells do not complete oogenesis (PubMed:32923640). Defects in nuclear shape due to a markedly distorted nuclear envelope which is highly convoluted with regions of blebbing and deep invaginations (PubMed:32923640)
Allelic exchange at the pgsA chromosomal locus is achievable only when a rescue copy of the pgsA gene is provided to the bacterium, demonstrating gene essentiality
Deficient mice shown no obvious phenotype but in most organs they have only 10% of the wild-type levels of gamma-glutamyl leukotrienase activity (PubMed:11463821). Mice deficient in GGT5 have significantly more airway hyper-reactivity in a model of experimental asthma (PubMed:12163373)
Narrow leaves and reduced root growth that results from a decreased cell division rate and a reduced apical dominance. Increased abscisic acid (ABA) sensitivity and drought tolerance. Higher resistance to oxidative stress mediated by methyl viologen (MV) that blocks electron transport during photosynthesis and by CsCl in light. Accumulates anthocyanins
Results in fusion of the adult Beta lobes in the mushroom bodies
Mitochondrial dysfunction (PubMed:18687901, PubMed:20049710, PubMed:32484300). Mice do not show gross structural defects in mitochondria, although the number of larger mitochondria is selectively increased (PubMed:18687901, PubMed:32484300). Mitochondrial respiration is impaired in the striatum, which is rich in dopaminergic terminals, but not in the cerebral cortex in young mice (PubMed:18687901). Mitochondrial respiration activities in the cerebral cortex are decreased in 2 years old mice (PubMed:18687901). Mice show defects in mitochondrial complex I and a decrease in mitochondrial membrane potential (PubMed:20049710). Decreased phosphorylation of Dnm1l in embryonic fibroblasts and in the substantial nigra of 18 month old mice (PubMed:32484300)
Impairs the production of PR-toxin as well as of the intermediates eremofortin A and B
Mice show severe defects in meiotic prophase I, such as DNA double-strand break (DSB) repair, crossover formation and synapsis in spermatocytes and oocytes resulting in sterility in both male and females (PubMed:30272023). Embryonic lethality due to defects in meiosis (PubMed:29742103). The use of a hypomorphic allele showed that spermatogenesis progresses normally until the end of prophase I when spermatocytes arrest at metaphase I: homologous chromosomes pair in spermatocytes but show defective synapsis (PubMed:29742103)
Hypersensitive to H(+) and Al(3+) rhizotoxicity, reduced induction of genes such as ALMT1 and MATE in response to acidic stress, and impaired Al-activated citrate exudation
RNAi-mediated knockdown causes embryonic arrest due to continued mitotic DNA segregation despite lack of DNA replication. Suppresses the S-phase checkpoint induced by rnr-1 inhibition or by hydroxyurea exposure
Leads to a loss of UDP-glucose:dolichyl-phosphate glucosyltransferase activity and a concomitant underglycosylation of carboxypeptidase Y
Viable, but deregulation of telomere length control
Cells lacking this gere are unable to synthesize chlorophyll, accumulating protochlorophyllide in darkness while synthesizing chlorophyll normally in the light
RNAi-mediated or conditional knockdown result in defective cuticle formation (PubMed:12888489, PubMed:36688410). RNAi-mediated knockdown in L4 stage larvae has no effect, but upon reaching adulthood, over 95% of the embryos produced by these animals arrest and fail to hatch (PubMed:12888489). Development arrests at the three-fold stage, showing abnormal constrictions or puckering in the external cuticle and approximately 8% of embryos exhibit ruptures in their cuticles resulting in the extrusion of cells (PubMed:12888489). RNAi-mediated knockdown significantly shortens lifespan (PubMed:35013237). Conditional knockdown in L1 larvae causes fully penetrant lethality with no viable larvae left by 38 hours (PubMed:36688410). Conditional knockdown causes abnormal molting/ecdysis, including extending the duration of molts (PubMed:36688410)
Decreases decay times of miniature excitatory postsynaptic currents (mEPSCs) and light-induced AMPA-type glutamate receptor (AMPAR) currents in CA1 pyramidal cell
Mice show a cell mass decrease of the spinal dorsal horn, hypoplasia and abnormal foliation patterns in the cerebellum
Loss of excision of its prophage (PubMed:7511583)
Mutation gives no obvious mutant phenotype, but, when combined with xer or dif mutants, leads to slower growth
Cells lacking this gene are unable to grow in the presence of sulfate or cysteine as sole sulfur source, whereas their growth in the presence of homocysteine, cystathionine or methionine is similar to that of the wild-type strain
Disruption sensitizes cells to multiple drugs
Reduced biomass and male sterility. Reduced size, thinner inflorescence stalks and flowers producing short siliques containing almost no seeds. Small vascular bundles with reduced secondary cell walls and modified cuticular wax composition with strongly reduced content in C29-ketone wax components
Albino cotyledons but normal green true leaves
No visible phenotype. Lip1 and lip2 double mutants have a reduced male transmission
Cells lacking this gene grow poorly, are more sensitive to UV light than wild-type cells and have reduced double-strand exonuclease activity
Reduced starch levels in leaves and loosely packed starch granules in grains (PubMed:34367195). Absence of starch granules in hypocotyl endodermis and root columella leading to impaired endodermal plastids sedimentation and reduced hypocotyl negative gravitropism in the dark and reduced root positive gravitropism (PubMed:34367195). Chalky rather than translucent grains due to abnormally small, loosely packed starch granules with conspicuous crevices between them (PubMed:34367195)
Worms exhibit an irregular shape and fail to show axonic polarization. Uncoordinated movement and retention of eggs, an egg-laying defect are apparent
Mice die perinatally being unable to take a breath and to respond to tail or leg pinch. Despite the presence of apparently normal skeletal muscle, the absence of differentiated nerve terminals is sufficient to account for this phenotype. Every aspect of NMJ formation examined is absent in these mice. Branches of the main intramuscular nerve do not establish normal contacts with the muscle, do not form correctly positioned or specialized nerve terminals, and are apparently not given appropriate signals to stop their wandering aimlessly across the muscle. Furthermore, postsynaptic differentiation is absent, muscle-derived proteins normally localized to the synaptic basal lamina or the postsynaptic membrane being uniformly distributed in myofibers
Gametophyte defective when both XPO1A and XPO1B are disrupted. Abnormal pollen germination and tube growth, impaired female gametophyte development and embryo lethal (PubMed:18791220). Impaired ability to withstand moderate heat stress (37 degrees Celsius). Enhanced sensitivity to methyl viologen (MV)-induced oxidative stress (PubMed:20345641)
Insertion mutant does not produce Dha and pyochelin
Despite a wild-type flower phenotype, the null mutant presents defects in pollen, carpel and ovule development, including a failure in megasporogenesis. Small siliques
Prevents synthesis of TAFC and FsC without affecting FC production (PubMed:17845073)
Short roots with irregularly shaped root tips and following a waving pattern. Delayed differentiation of columella stem cells (CSC) daughters into columella cells (CCs)
No visible phenotype; due the redundancy with MNS2. Lack of complex N-glycans, shorter roots and increased lateral root formation in mns1 and mns2 double mutants
Compact rosette with smaller leaves, reduced petiole lengths and shorter inflorescences
Plants have a floury-white endosperm
Abolishes the formation of aculene A and accumulates a major product,asperculane A, along with two minor products, asperculane C and 14-prolyl asperculane C
Cells are viable but are unable to retrieve efficiently some proteins from early endocytic compartments
No significant difference in lariciresinol content (PubMed:18347017). Prr1 and prr2 double mutants show a complete inhibition of lariciresinol biosynthesis (PubMed:18347017). Elevated levels of pinoresinol, reduced lignin content in the fiber cells, and a slightly altered lignin structure with low abundance of cinnamyl alcohol end groups (PubMed:25107662)
No visible phenotype. Mice are fertile and appear healthy when kept in a clean, microbe-free environment. Mice do not respond to bacterial smooth lipopolysaccharide (LPS). Contrary to wild-type, they do not develop toxic shock or secrete TNF in response to LPS. Surprisingly, they have fewer live bacteria in their lungs and bloodstream after inoculation with bacteria and are not killed by an inoculum that is lethal to wild-type; they are killed when the inoculum is further increased
Mutants are defective in tetrathionate respiration
No glycosylation of serine-rich fimbrial adhesin Fap1, an unglycosylated version of Fap1 accumulates that is larger than the wild-type protein. No further defect in a double gtfA/gtfB disruption mutant, but biofilm formation is further decreased than in a gtfB deletion
No macroscopic phenotype, probably due to functional redundancy. In plants lacking all vacuolar-processing enzyme isozymes (e.g. alpha, beta, gamma and delta) shift of storage protein accumulation from normally processed polypeptides to a finite number of prominent alternatively processed polypeptides cleaved at sites other than the conserved Asn residues targeted by VPE
No effect on baseline apoptosis in the testis but germ cell apoptosis is dramatically reduced following treatment with a gonadotropin-releasing hormone antagonist
Deletion mutant is unable to use L-threonate as a carbon source
Cells lacking this gene show a reduced growth rate and a markedly reduced yield in glucose minimal medium compared to wild-type; this phenotype can be partially rescued by adding L-phenylglycine to the medium, which reflects that other enzymes may also catalyze its acetylation, but with lower affinities. The deletion mutant strain also shows a consistent change in the level of several metabolites whose masses can correspond to L-phenylglycine, L-pipecolate or N4-acetylaminobutanal
Enhanced root growth and increased amino acid biosynthetis in the light period
Defects produce a giant phenotype
Not essential, it has a diminished capacity to survive in murine macrophages
Cannot be disrupted, it is thus essential
Morpholino knockdown of the protein alters the migration of gonadotropin-releasing hormone (GnRH) expressing neurons
Results in complete loss of glucosylceramides (GluCers) in mutant cells. Shows a significant change in the conidial morphology and displays a dramatic polar growth defect, and its mycelia are resistant to cell wall degrading enzymes. Shows increased resistance to plant defensins MsDef1 and RsAFP2, but not MsDef4
Embryonic fibroblasts from mutant mice display growth defects, premature senescence and increased levels of TP53 and multiple TP53 targets. In liver, knockdown disrupts the formation of a cAMP-mediated transcription complex involving CRTC2, reduces the expression of genes encoding gluconeogenic factors and decreases glucose output in primary hepatocytes, it also restores euglycemia in insulin-resistant mice
Defective response to diacetyl with wild-type response exhibited to other ketones and odorants sensed by AWA
Homozygous Fut9 knockout mice develop normally, with no gross phenotypic abnormalities, and are fertile
Leads to high-affinity Ca(2+) influx system (HACS) deficiency (PubMed:21252230, PubMed:23204190). Causes a large increase of cell death in response to mating pheromone, when KCH1 is also deleted (PubMed:23204190)
Mutant lacks functional cytochrome bd complex (PubMed:3032907, PubMed:7934832, PubMed:8276245). Mutant grows normally and remains viable during stationary phase but is unable to exit stationary phase and resume aerobic growth at high temperature (PubMed:8276245)
During the stationary phase, the deletion mutant exhibits a completely different intracellular pool of amino acids and produces a significant amount of L-valine in the culture medium. The log-phase mutant displays slightly decreased coenzyme A levels, accumulates 2-ketobutyrate, 2-aminobutyrate, and, to a lesser extent, L-valine. Also exhibits an increase in the levels of isoleucine and valine metabolic enzymes (PubMed:24097949). The mutant also accumulates gamma-L-glutamyl-L-2-aminobutyryl-glycine (ophthalmic acid) (PubMed:27426274). The mutant accumulates the PLP precursor pyridoxine 5'-phosphate (PNP), and is sensitive to an excess of pyridoxine but not of pyridoxal (PubMed:26872910). Most of the phenotypes observed in the absence of yggS are probably caused by lower activities of PLP-dependent enzymes (PubMed:26872910)
Albino cotyledons without primary leaf and seedling lethality under autotrophic growth conditions
Mice were born in normal Mendelian ratios, are viable, and do not exhibit any visible phenotype (PubMed:29650543). They however develop cardiomyopathy and display splicing defects in genes related to calcium handling such as CAMK2D or RYR2 (PubMed:29650543)
Viable and fertile. No visible phenotype
Morpholino knockdown of the protein causes cardiac edema in 70% of the injected morphants. They show malformed myotendinous junction and, in 80% of the morphants, skeletal muscle is characterized by myofibrillar misalignment and fiber detachment
Significantly reduced NF1 levels
RNAi-mediated knockdown in a lin-15 mutant background causes a multiple vulva (Muv) phenotype
Upon hypo-osmotic shock, cells display excessive increase in cell volume compared to wild-type and undergo cell death
Mutation of the gene impairs the acetylation of the N-terminal alanine of ribosomal protein bS18, but does not affect acetylation of ribosomal proteins uS5 or bL12
No visible phenotype, but reduced dormancy and fast germination of the seeds. Strong resistance of the seeds to abscisic acid
Abnormal myelination and optic nerve morphology
RNAi-mediated knockdown reduces oocyst formation by 50% following infection with P.berghei but not with P.falciparum
RNAi-mediated knockdown in the adult causes abnormally small larval progeny, difficulties in shedding old cuticles after molts and larval arrest at the L3 or L4 stage (PubMed:9521900). Up to three previous cuticle segments may remain attached near the tail (PubMed:9521900). Less than 1% of affected larvae survive to adulthood and in all cases have a strong Dumpy (short and fat) phenotype (PubMed:9521900). Defects in gonad morphogenesis and seam cell (lateral epidermis) development (PubMed:9521900). Knockdown in L1 larvae causes the majority of affected individuals to have defects in the L3/L4 molt (PubMed:11416209, PubMed:35968765). Reduces the peak level of expression of fbn-1 by 2-fold during both L3 and L4 stages (PubMed:35968765). Knockdown in L2 larvae results in a molting defect mainly at the L4/adult (A) transition (PubMed:11416209). Knockdown in L3 larvae causes developmental arrest and a molting defect in the L4/A molt (PubMed:11416209). Larval molting cycles are extended; this effect is partially suppressed in a microRNA let-7 mutant background (PubMed:35968765). Those hermaphrodite adults which survive knockdown at larval stages show defects in gonad development, with gonad often appearing misshapen, folded and constricted (PubMed:11416209). Males which survive knockdown often have tail morphogenesis defects, in addition to molting defects (PubMed:11416209). Significantly (5-11 fold) reduces level of expression of cuticle collagen dpy-7 (PubMed:11416209). Germline-targeted knockdown in hermaphrodites or males causes sterility (PubMed:33060131). Primary spermatocytes arrest in a metaphase I-like state (PubMed:33060131). Spermatocytes have defects in both cytokinesis and post-meiotic partitioning (PubMed:33060131)
Plants show a reduced level of the major light-harvesting chlorophyll a/b-binding proteins (LHCPs)
Abnormal embryo development leading to reduced cotyledons (PubMed:15266054, PubMed:18684657). Reduced maintenance of heat-induced (37 degrees Celsius) gene expression leading to reduced growth and survival in heat conditions (44 degrees Celsius). Abnormal nucleosome dynamics at loci with altered maintenance of heat-induced expression. The double mutant brm-1 fgt1-1 exhibits retarted seedling development resulting in reduced development and delayed leaf initiation, as well as delayed flowering time (PubMed:27680998)
Deficient mice are viable, fertile and have no obvious pathological phenotype
Mutants are not viable (PubMed:19111522). Heterozygous animals show an aneurological phenotype, premature aging and reduced lifespan (PubMed:19111522)
Heterozygous MRPS22 knockout mice are fertile and show no overt abnormalities. Homozygous MRPS22 knockout results in embryonic lethality
RNAi-mediated knockdown by injection into the gonad results in male progeny with grossly abnormal tails with no spicules (PubMed:10716947). Hermaphrodite progeny are constipated and show backward uncoordination (PubMed:10716947)
Viable and appear morphologically normal (PubMed:27478019). Adults display a significant reduction in the electrophysiological responses of multi-dendritic neurons of the labellum (md-L) to mechanical stimuli (PubMed:27478019). Adults are unable to discriminate between the preferred softness (1% agarose) or smoothness (sucrose solution only) from harder or stickier food options (PubMed:27478019). Adult females display a reduced ability to discriminate between small differences in egg-laying substrate stiffness (PubMed:32649914). Larvae display abnormal locomotion behaviors that likely result from the loss of proprioceptive feedback (PubMed:27298354, PubMed:30853433). Displays reduced sensitivity to movement direction due to decreased activity of the dorsal proprioceptors neurons ddaD, which are activated during backward movement, and ddaE neurons which are activated during forward movement (PubMed:30853433). As a consequence, larvae crawling speed is reduced due to increased head curl behavior and increased backward locomotion (PubMed:27298354). No obvious defects in larvae dendrite morphology of class I da neurons or axon targeting of neurons in the ventral nerve cord (PubMed:27298354). Adults display a normal avoidance of bitter tastes such as quinine, denatonium, strychnine and berberine, and L4 and S6 sensilla display normal electrophysiological responses to salt, sucrose and caffeine (PubMed:27478019)
Eyes are white due to a defect in color pigment production (PubMed:18310115, PubMed:33820991). Malpighian tubules appear clear or white (PubMed:18310115, PubMed:29367274). Loss of st/scarlet protein in the pigment cells and retinula cells of the compound eye (PubMed:11294610). Transport of cGMP, but not cAMP, is inhibited in Malpighian tubules; however, basal fluid transport rates or rates stimulated by cGMP in the tubules are normal (PubMed:18310115). In Malpighian tubules, uptake of guanine, xanthine and riboflavin is impaired while uptake of hypoxanthine, guanosine and adenine is not affected (PubMed:117796). In Malpighian tubules, kynurenine and tryptophan uptake is impaired; however, incorporation of tryptophan into proteins is not affected (PubMed:6788034, PubMed:812484). In pupal eyes, kynurenine uptake is impaired (PubMed:812484). In the head, 50% reduction in histamine levels, 60% reduction in dopamine levels and 32% reduction in serotonin (5-HT) levels (PubMed:18931318). Specifically, histamine levels are reduced in the retina, the retina lamina and the central brain (PubMed:18931318). In addition, in lamina photoreceptor terminals R1-R6, numbers of synaptic vesicles and capitate projections, which are sites of endocytosis of vesicle membrane, are reduced (PubMed:18931318). In young and old flies, reduces the levels of several metabolites, including tryptophan, kynurenine, kynurenic acid, 3-hydroxykynurenine, guanosine, xanthine, riboflavin and tetrahydrofolate, and increases the levels of guanine (PubMed:33820991). Inhibits aging-induced intestinal stem cell proliferation (PubMed:33820991). 3-fold reduction in Malpighian tubule zinc stores (PubMed:29367274). Severe reduction of copulation success and reduced courting activities in males (PubMed:28794482). RNAi-mediated knockdown in central nervous system causes a delay in locomotor recovery from anoxia with no effect on eye pigmentation (PubMed:27029736). RNAi-mediated knockdown in serotonergic neurons, causes a delay in locomotor recovery from anoxia (PubMed:27029736)
The double mutants ate1 and ate2 show reduced seed germination potential and inhibition of seedling establishment by sucrose (PubMed:19255443). The double mutants ate1 and ate2 exhibit abnormal shoot and leaf development (PubMed:19620738)
Defects in rosette leaf and inflorescence development
Decreased tolerance to aluminium (Al), but normal tolerance to cadmium (Cd) (PubMed:23888867). Lower Al accumulation in root cell walls and plasma membranes but increased Al levels in root cell sap of plants exposed to aluminium (PubMed:23888867)
Conditional knockout in the liver impairs the formation of N(7)-methylguanine at position 46 (m7G46) in tRNAs and inhibits tumor development in an intrahepatic cholangiocarcinoma xenograph mouse model
RNAi-mediated knockdown causes various defects, including sterility, multiple vulvae, protruding vulva and arrested larvae (PubMed:10880475). Abolishes many hpl-2 nuclear foci (PubMed:16890929). Causes ectopic up-regulation of transcription of specific genes, such as lin-39 and lag-2 (PubMed:16890929)
Leads to complete loss of culmorin production (PubMed:26673640). Accumulates 3-hydroxylongiborneol, 5-hydroxylongiborneol, 12-hydroxylongiborneol and 15-hydroxylongiborneol, suggesting that non-specific oxygenases are still able to hydroxylate longiborneol at other sites than C-11 (PubMed:26673640). Accumulates also 11-epi-acetylculmorin, pointing to the existence of an oxygenase capable of installing a C-11 exo-hydroxy group in longiborneol, whose activity is not apparent until CLM2 is disrupted (PubMed:26673640). Does not affect the trichothecene biosynthetic pathway since 15-acetyldeoxynivalenol (15ADON) is still produced (PubMed:26673640)
RNAi-mediated knockdown in larvae results in reduced levels of sulfite oxidase activity. RNAi-mediated knockdown in ensheathing glial cells results in larval locamotion defects, including reduced run phases with more stops and an increase in head bending frequency. RNAi-mediated knockdown in the cortex glia, astrocytes or neurons has no effect on locomotion or head bending frequency
Progressive loss of germ cells due to apoptosis during larval development
Increased expression of aprA (usually repressed by this protein) (PubMed:10570200). Partially suppresses a gacA deletion mutant (PubMed:10570200, PubMed:11807065). Double csrA1-csrA2 deletion mutants fully suppress the requirement for GacA/GacS in control of its regulon (PubMed:15601712). Decreased expression and stability of RsmY and RsmZ sRNAs (PubMed:15601712)
Mice appear normal and healthy (PubMed:27344443). Display no alteration on the survival or axonal elongation in primary embryonic motoneurons (PubMed:27344443). Show no alteration in total AKT phosphorylation in primary embryonic motoneurons (PubMed:27344443)
Essential, it cannot be disrupted individually in a wild-type strain; the lethal effects of its disruption are suppressed by loss of some other chaplins, the roldet protein (RdlA and RdlB) or by inactivation of the tat secretion pathway (PubMed:18586935). Quintuple knockout chpA-chpB-chpC-chpD-chpH has strongly delayed aerial hyphae formation, makes many fewer aerial hyphae but no effect on viability of the spores produced. Further deletion of chpE leads to more severe effects, and on rich media few aerial hyphae are produced after prolonged growth. Those few hyphae do differentiate into spores and have a rodlet layer (PubMed:12832396). Deletion of all 8 chaplin genes on minimal medium leads to severely disrupted aerial hyphae that collapse on the colony surface and are not hydrophobic. A few spore chains can still be made, but they have neither rodlets or amyloid-like fibers. rdlA and rdlB mRNA are down-regulated (PubMed:15228525, PubMed:17462011). Deletion of all 8 chaplin genes on rich medium leads to a reduced abundance of aerial hyphae without rodlets and occasional spore chains on surface hyphae. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011). Deletion of all 8 chaplin genes significantly reduces cellular attachment to a hydrophobic substrate; thin fibrils instead of fimbrae are detected. The long chaplins (ChpA, ChpB and ChpC, as seen by near wild-type attachment of the hextuple chpA-chpB-chpC-chpD-chpE-chpH knockout) are not essential but may contribute to attachment (PubMed:19682261)
Impairs the production of quinolactacin A2 and leads to the accumulatin of N-methylkynurenine
Cells lacking this gene grow, albeit poorly, in standard medium with dextrose, glycerol, and fatty acids as carbon sources, but fail to grow on carbohydrates. They are less resistant than wild-type to exposition to mildly acidified nitrite, but are more resistant to oxidative stress in the form of H(2)O(2) in vitro. Lpd-deficient strains are severely attenuated in wild-type and immunodeficient mice. In contrast to wild-type or DlaT lacking strains, strains lacking Lpd are unable to grow on leucine or isoleucine. Disruption of this gene also leads to extraordinary accumulations of pyruvate and branched chain amino and keto acids
Morpholino knockdown of the protein results in a reduced cerebellar area and smaller optic tecta area compared to control larvae. At 3 dpf, transgenic larvae present with a significantly decreased size of Purkinje and granule cell layers compared to controls
Highly attenuated in macrophage-like line J774 and female BALB/c ByJ mouse infections. Loss of viability in stationary phase growth in culture. Increased sensitivity to H(2)O(2), acid pH, highly sensitive to the combination of NaN(3) plus NiSO(4)
Mutants are resistant to levamisole, an agonist of nAChRs
RNAi animals show apparent growth arrest in body size compared with control animal, also loss of nvd-Dm function prevents larval growth prior to the initiation of the molting process
Single mutants do not display any obvious defects in ciliogenesis. Double bbs-4 and bbs-5 mutants display a defect in cilia structure and function. This is characterized by an increased accumulation and mislocalization of intraflagellar transport proteins and impaired movement of intraflagellar transport proteins along the ciliary axoneme. Double mutants also have defective polycystin-mediated cilia signaling and mislocalized and increased accumulation of mechanosensory receptors pkd-2, osm-9 and odr-10 within cilia
Knockout cells grow at least as fast as a control axenic strain and differentiation also appears normal with fruiting bodies forming under appropriate stimuli. Uptake of FITC-dextran, an assay for fluid phase endocytosis, is unimpaired while uptake of FM1-43, a membrane marker, is slower than in the control
Reduced biomass and lateral roots and shorter primary roots
Plants are indistinguishable from that of wild-type at 16 degrees Celsius, however they generate a weak phenotype of pointed leaves at 22 degrees Celsius which become narrower at 26 degrees Celsius. In the leaves of plants grown at 26 degrees Celsius, the xylems are located on the adaxial sides and the phloems are on the abaxial sides, similar to those in the wild type. Plants with double mutations in this protein and in AS2 or AS1 protein have abaxialized filamentous and trumpet-like leaves with loss of the adaxial domain at high temperatures. In double mutants, shapes of epidermal cells of the filamentous leaves are simple and rectangular, similar to those of a petiole, but different from those of flat leaves of wild-type plants. The filamentous leaves of the double mutant at 26 degrees Celsius show primitive or no vascular tissue without apparent xylem cells inside the bundle sheath, suggesting defects in differentiation of xylem cells on the adaxial side
No visible phenotype (PubMed:29769718). Loss of Ankrd16 in mice with a 'sticky' phenotype (mice homozygous for the variant 'Glu-734' in Aars/AlaRS) results in early embryonic lethality (PubMed:29769718). Conditional deletion in postnatal Purkinje cells in mice with a 'sticky' phenotype exacerbates the 'sticky' phenotype and causes widespread protein aggregation and neuron loss (PubMed:29769718)
A double amb0994-amb0995 deletion grows normally and has wild-type magnetosomes. It fails to sense and respond to an external magnetic field, i.e. bacteria do not align to the field
Not essential. Loss of N-acylation of apolipoproteins
Normal sensitivity to DNA damaging agents (PubMed:26704385). Mild UV sensitivity in the gen1 send1 double mutant (PubMed:26704385). The double mutant mus81 send1 exhibits severe developmental defects (e.g. strong growth retardation and impaired leaf and shoot development), increased endoreduplication, slower cell cycle progression, spontaneous cell death and genome instability associated with a dramatic loss of telomeric repeats (PubMed:26704385)
Cells lacking this gene display decreased survival rates during salt stress conditions
Mutant is sensitive to the alkylating agent methyl methanesulfonate and the DNA cross-linking agent mitomycin C
Cells undergo aberrant differentiation and development ending with small, gnarled fruiting bodies. They also have decreased spore viability and decreased levels of glycogen
RNAi-mediated knockdown results in neuronal dense core vesicle trafficking defects whereby fewer dense core vesicles are transported to axons of the dorsal nerve cord
Mice show a lack of multi-nuclear osteoclast and foreign body giant cell formation and a bone-resorbing efficiency reduction
Cells lacking this gene display an increase in susceptibility to some beta-lactam antibiotics and, despite slower growth in vitro, enhanced virulence in both cellular and murine models of tuberculosis. No detectable difference in the lipid profiles
Absence of the phosphoprotein gefR
Defective embryo arrested at preglobular/early globular stage with the formation of giant endosperm nuclei (PubMed:15266054). In jhs1, retarded growth, abnormal pattern of shoot apical meristem (SAM) cell division and differentiation, and morphological defects such as fasciation, irregular arrangement of siliques and phyllotaxy, and short roots (PubMed:26951435). Increased sensitivity to DNA damage stress (PubMed:26951435). Increased DNA damage response, including increased expression of genes involved in DNA damage repair and cell cycle regulation, and a higher frequency of homologous recombination (PubMed:26951435). Meristems exhibit a delayed cell cycle progression at the G2 or late S phase, and a misregulation of genes essential for meristem maintenance (PubMed:26951435)
Results in loss of morphologically defined caveolae
Morpholino knockdown of the protein causes developmental defects, such as pericardial edema, smaller eyes and shorter body length (PubMed:26365306). Bioenergetics defects are observed in dells (PubMed:26365306)
Disruption of this gene eliminates the ability of G.sulfurreducens to reduce soluble Fe(III) citrate, Fe(III)-EDTA, and insoluble Mn(IV) oxides, electron acceptors with potentials greater than 0.1 V versus the standard hydrogen electrode (SHE), but the imcH mutant retains the ability to reduce Fe(III) oxides with potentials of <-0.1 V versus SHE. The imcH mutant fails to grow on electrodes poised at +0.24 V versus SHE, but switching electrodes to -0.1 V versus SHE triggers exponential growth. Growth with fumarate as the electron acceptor is unaffected in the deletion mutant
CD33-deficient mice are viable and fertile in a pathogen-free environment without any obvious deficiency in overall organ development and growth
About 10-fold decrease in virulence in mice, increased presence of neutrophils in the injection region
Loss of Holliday junction endonuclease activity (PubMed:1829835). Increased sensitivity to mitomycin and UV light, almost normal conjugative recombination in wild-type backgrounds (PubMed:2164626). Suppresses lethality in dnaB temperature-sensitive mutants; ruvC cannot be deleted in recB-recC temperature sensitive mutants (PubMed:9814711)
Reduces the production of AF-toxin and pathogenicity
Deficient mice exhibit a phenotype of chronic activation of the immune system, with splenomegaly marked by elevated levels of interferon-gamma (IFN-gamma) (PubMed:30111894). PDL3 and PLD4 double-deficient mice are unable to survive beyond the age of 21 days due to severe liver inflammation (PubMed:30111894). Livers from double-knockout mice develop lethal hepatic autoinflammatory disease that could be prevented by a single allele of either PDL3 or PLD4 (PubMed:30111894)
Zygotic lethal mutant phenotype. Seeds abort early, with embryos made of up to eight cells, characterized by enlarged nuclei in endosperm with arrested cell cycle. These phenotypes are partly suppressed by mutation in MEA/MEDEA
Deletion of the gene enhances sporulation (PubMed:9334321). Deletion mutant grows less well than wild type on minimal medium with ammonium as nitrogen source and cannot grow on 5-oxoproline. Mutant lacks 5-oxoprolinase activity and accumulates 5-oxo-L-proline (PubMed:28830929)
Does not require uracil for growth, is partially resistant to 5-FOA (5-fluoroorotic acid)
Mice exhibit both EOB (eyes open at birth) and omphalocele phenotypes as a result of disorganization of actomyosin cables in the eyelid epithelium and defective actin assembly in the umbilical ring
Lethality around embryonic day 8.5. Mice carrying a hematopoietic lineage-specific deletion of Jagn1 show defects in neutrophil-dependent immune response to the fungal pathogen Candida albicans. Neutrophils display defects in the glycosylation of proteins involved in cell adhesion and cytotoxicity as well as impaired migration in response to Candida albicans infection and impaired formation of cytotoxic granules
Progressive loss of germ cells due to apoptosis from 6 weeks of age
Spores of the null mutant show partial lack of assembly of several coat components, including CotB, CotG and CotH, and impairment of response during germination
RNAi-mediated knockdown causes a reduction in the uptake of cholesterol analog dehydroergosterol (DHE). Simultaneous RNAi-mediated knockdown of zmp-2 prevents a reduction in survival upon heat stress
Deficient mice die neonatally showing altered patterning of the axial skeleton and impaired renal, palate, stomach, spleen and pancreatic development
RNAi-mediated knockdown causes embryonic arrest at the 100-cell stage, premature cell division of E2 cells, Ea and Ep, severe loss of polymerase II large subunit ama-1 phosphorylation and reduction in the transcription of several embryonic genes
Mice appear normal at postnatal week 2, but develop progressive hearing loss associated with early defects in orientation and organization of cochlear stereocilia bundles. They have normal vestibular function
A single chpH disruption and double chpC-chpH knockout have no visible or sporulation phenotype; a quadruple chpA-chpC-chpD-chpH knockout has delayed aerial hyphae formation and sporulation. A quintuple chpA-chpB-chpC-chpD-chpH knockout has a longer delay in aerial hyphae formation and an almost complete lack of sporulation. The quintuple knockout still expresses ChpE, ChpF and ChpG (PubMed:12832397). Quintuple knockout chpA-chpB-chpC-chpD-chpH has strongly delayed aerial hyphae formation, makes many fewer aerial hyphae but no effect on viability of the spores produced. Further deletion of chpE leads to more severe effects, and on rich media few aerial hyphae are produced after prolonged growth. Those few hyphae do differentiate into spores and have a rodlet layer (PubMed:12832396). Deletion of all 8 chaplin genes on minimal medium leads to severely disrupted aerial hyphae that collapse on the colony surface and are not hydrophobic. A few spore chains can still be made, but they have neither rodlets or amyloid-like fibers. rdlA and rdlB mRNA are down-regulated (PubMed:15228525, PubMed:17462011). Deletion of all 8 chaplin genes on rich medium leads to a reduced abundance of aerial hyphae without rodlets and occasional spore chains on surface hyphae. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011). Deletion of all 8 chaplin genes significantly reduces cellular attachment to a hydrophobic substrate; thin fibrils instead of fimbrae are detected. The long chaplins (ChpA, ChpB and ChpC, as seen by near wild-type attachment of the hextuple chpA-chpB-chpC-chpD-chpE-chpH knockout) are not essential but may contribute to attachment (PubMed:19682261)
No discernible phenotypic alteration in the growth and development
The double mutant agm1 and agm2 results in the absence of methylation on arabinogalactan glucoronic acid side chains
Embryo lethality. Embryos consisting of variably enlarged cells with cell-wall stubs. Abnormal microtubule organization. Endosperm indistinguishable from wild-type endosperm in regard to nuclear multiplication and subsequent cellularization. Cells undergoing cytokinesis divide abnormally although they display pheragmoplast microtubules and accumulate KNOLLE in the forming cell plate
Blocks autophagy (PubMed:28894236). Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Strongly reduces conidiation and completely fails to form any perithecia (PubMed:28894236)
Cells lacking this gene are not able to produce salinosporamide A (SalA), however they produce salinosporamide B
Homozygote knockout mice for the ABCA2 gene are viable and fertile (PubMed:17488728, PubMed:17060448). Mice are born at the expected Mendelian ratio and exhibit a phenotype including lower pregnancy rate and body weight, shorter latency period on the balance beam, and sensitization to environmental stress compared with wild type mice (PubMed:17488728). Homozygote knockout males and females are viable and fertile. However, a non-Mendelian inheritance pattern is found among male progeny of heterozygous crosses. Mice display a tremor without ataxia, hyperactivity, and reduced body weight; the latter two phenotypes are more marked in females than in males (PubMed:17060448)
Neurons are resistant to amyloid-beta neurotoxicity. Significantly lower CASP12 expression in brain
CHO cells show loss of site-1 cleavage of SREBF1/SREBP1 and SREBF2/SREBP2, reduced synthesis of cholesterol, a reduced level of LDLR and cholesterol auxotrophy
Plants show a reduced germination
Worms exhibit a 2-fold increase in PI3P, sluggish body movement with progressive deterioration and defects in gestation
Spermatogenesis defects and adult obesity
Severe dwarf phenotype without flower or seed development
Does not affect the accumulation of azaterrilone A
Mice exhibit no defects in head development. Mice are live-born. About one-third of the homozygous mutants were normal and fertile and about two-thirds were dwarf. Reduction in weight gain became apparent at the postnatal third week; about half of the dwarf mice subsequently resumed the weight increase, although they remained dwarf; the other died within a month after birth
No sporulation at 37 or 47 degrees Celsius
Slower than normal migration of granule cells in the developing cerebellum, leading to a decreased cerebellum size in adult mice and impaired skills in tasks that require coordinated movement and balance. Granule cells from mutant mice have a rounded shape and lack the elongated shape seen in wild-type. At 6 days after birth, increased granule cell apoptosis is observed, contrary to the situation in wild-type
About 10-fold increased sigma-E activity. Neither sigma-E nor RseB associate with the inner membrane
Embryonic lethality at mid-gestation (9.5 dpc)
Transposon mutagenesis experiments have identified that SerB2 is essential for the pathogen's viability while SerB1 is not
Completely abolishes the production of patulin, shows reduced sporulation, and leads to the production of a distinct dark-red pigment
Short hypocotyl and open cotyledons in dark-grown seedling, accumulation of anthocyanin and expression of light-induced genes in the dark resulting from an impaired cullin deneddylation (PubMed:15923347). Severe developmental defects resulting in dwarf stature and loss of apical dominance (PubMed:17307927). Csn5a and csn5b double mutants are lethal at the seedling stage (PubMed:17307927)
Mutant mice are hypertensive due to constitutive activation of renal epithelial sodium channels and increased sodium reabsorption
A combined deletion of the LDS proteins RRT8, LDS1 and LDS2 fails to incorporate dityrosine and another yet uncharacterized component in the outer spore wall
Flies exhibit photoreceptor cells that degenerate within a week after eclosion
Cells have a weak magnetic response and make magnetosome membranes. Has fewer but larger magnetite crystals (PubMed:20212111). Makes small, flaky magnetite crystals, does not alter subcellular localization of MamC, MamF, MamI or MmsF (PubMed:25775527). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
No visible growth phenotype. Cells no longer have a 15-19 nt population of RNA, transforms 2-fold better with plasmid (plasmid silencing)
Embryonic lethality caused by early gastrulation arrest: maternal mutant embryos fail to undergo normal cleavage and the maternal-to-zygotic transition (PubMed:30135188, PubMed:31399345). Early embryos show severe developmental arrest at the shield stage in maternal ybx1 knockout embryos, leading to lethality at 8 hours post-fertilization (hpf) (PubMed:31399345)
Grows more slowly and to a lower cell density than wild-type
Knockout mice display decreased triglyceride clearance from plasma resulting in hypertriglyceridemia
Semi-dwarf plants, early heading, and partial sterility of spikelets due to defects in the anther developmental program and pollen formation
Mutant mice develop normally. Males show defects in reproductive organs with smaller-than-normal testes (PubMed:32032549). They have severely impaired spermatogenesis and the absence of postmeiotic spermatids or sperm in testes and epididymis (PubMed:32032549). Female ovaries are degenerated with apparently fewer mature follicles at the age of 4 weeks old (PubMed:32032549)
No obvious phenotype. Reduced galacturonic acid content in cell wall
The arcA transcript in QueA-deficient strains is 14-fold more abundant than in the wild-type strain. However, no significant difference in arginine deiminase (AD) activity (encoded by arcA) is detected between the wild-type and QueA-deficient strains. The growth rate of a QueA-deficient strain does not differ significantly from that of the wild-type strain, but the QueA-deficient strain does not compete well with the wild-type during serial passage
Reduced copper transport ability, increase in copper content of the xylem, and enhanced resistance against X.oryzae pv. oryzae (Xoo) PXO99
No visible phenotype under normal growth conditions, but mutant plants present a progressive lengthening of telomeric repeats
Shows substantial decrease in ergothioneine, accompanied by accumulation of its immediate precursor, hercynylcysteine sulfoxide
Affects vacuolar morphology and decreases survival upon hyperosmotic stress
RNAi-mediated knockdown causes an increased lifespan and resistance to starvation, slower growth and a decrease in brood size (PubMed:17266680). Causes a decrease in the number of germline progenitors (PubMed:22278922). RNAi-mediated knockdown in adults causes increase in lgg-1 positive autophagic vesicles (PubMed:22560223). RNAi-mediated knockdown in a daf-2 e1370 mutant background results in daf-16-mediated up-regulation of stdh-1 reporter expression in the intestine and a synergistic increase in lifespan. RNAi-mediated knockdown in germ line, hypodermis and to a lesser extent in intestine and daf-2 e1370 mutant background causes a synergistic increase in lifespan (PubMed:24332851)
Deficient mice are embryonic lethal around midgestation (9.5-10.5 dpc). Embryos exhibit severe growth retardation and defective neural tube closure
RNAi-mediated knockdown leads to misexpression of markers of the asymmetric state of AWC neurons
Death at the larval/pupal boundary due to extensive telomere-telomere fusions in larval brain cells
Early embryonic lethality
No visible phenotype. Double knockout with lin-35 results in sterility, defects in gonad migration and vulval morphology
Deficient mice exhibit a late-onset cerebellar and sensory ataxia, loss of Purkinje cells, dorsal root ganglia cell degeneration, axonal degeneration in the spinal cord, and an accumulation of very long chain fatty acids (C26:0 and C24:0) in dorsal root ganglia cells, and reduced levels of C22:6omega3 in primary neurons
Death between E3.5 and E7.5. Mice containing a heterozygous deletion of this gene coupled with heterozygous deletion of TP53 exhibit an increased incidence of metastatic tumors
No effect on sulfate uptake, due to the redundancy with SLT2 and SULTR2. Slt1 and slt2, as well as slt1 and sultr2 double mutants show a 50% decline in uptake while the slt1, slt2 and sultr2 triple mutant exhibits no increase in sulfate uptake capacity when deprived of sulfur
Deletion mutants show a complete absence of observable pili
Mice are glucose intolerant and insulin resistant, despite being leaner than wild-type mice
Deletion mutant does not show any difference in intracellular survival and oxidative stress responses
In mice lacking Lingo1 and MPTP-intoxicated, a model for Parkinson disease, the dopaminergic neurons survival is increased and behavioral abnormalities reduced
Cells with an insertion in the ACP domain of this gene show an white phenotype and produce 2-methyl-3-n-amyl-pyrrole (MAP) but not prodigiosin. Cells with an insertion in the aminotransferase domain of this gene show a light pink phenotype and produce less prodigiosin than the wild-type
Cell lethality
Does not affect growth on glucose. Mutant shows a severe growth defect on fructose (PubMed:33476373). In the absence of the gene, expression of the fru genes increases in glucose medium (PubMed:33649152)
Exhibits defects in the sorting and processing of native vacuolar proteins (PubMed:3062374)
RAB3-deficient mice show an incomplete and slow secretion response in brain nerve terminals after exhaustive stimulation. The replenishment of docked vesicles after exhaustive stimulation is also impaired
No visible phenotype under normal growth conditions, but mutant plants have increased NADH/NAD(+) ratios, decreased levels of glycerol-3-phosphate, and produce constitutive high levels of reactive oxygen species (ROS)
SIN3A knockdown causes a significant decrease in the amount of cortical progenitors in the proliferative zone at the peak of neurogenesis, and results in altered neuronal identity and aberrant corticocortical projections
Specifically defective in the accumulation of subcomplex A, a stroma-protruding arm of the chloroplast NADH dehydrogenase-like complex (NDH)
Mutant shows increased sensitivity to oxidative stress
Increases intracellular free calcium level (PubMed:20889719). Decreases urease activity (PubMed:29113016). Decreases concentration of the polysaccharide glucuronoxylomannan in growth medium (PubMed:20889719). Decreases RNA level of ECA1 (PubMed:20889719). Increases RNA level of PMR1 and PMC1 (PubMed:20889719). Sensitive to cyclosporine A in combination with; semi-permissive high temperature, or calcium chloride (PubMed:20889719). Resistance to cyclosporine A in combination with cadmium (PubMed:20889719). Normal cell wall integrity (PubMed:20889719). Normal capsule size (PubMed:20889719). Decreases virulence in a mouse intranasal inhalation infection model (PubMed:20889719). Normal virulence in a mouse systemic infection model (PubMed:29113016). Decreases susceptibility to phagocytosis by macrophages (PubMed:20889719, PubMed:29113016). Enhances calcium sensitivity of PMC1 disruption mutant (PubMed:23895559)
RNAi-mediated knockdown reduces lifespan
RNAi-mediated knockdown in the fat body or hemocyte of flies infected with the Gram-negative bacterium E.coli results in an increase in bacterial load 24 hours after infection
No visible phenotype under normal growth condition, but increased sensitivity to elevated levels of nitrite
Arrest at the L2-L3 stage in 90% oxygen
RNAi-mediated knockdown causes embryonic lethality at the 100-cell stage
Secretes greatly reduced amounts of EsxB, protein is synthesized intracellularly (PubMed:22233444). In single deletion mutant EccCb1 only rarely localizes near the cell pole, while disruption of the probable saeA-saeB-saeC operon completely blocks polar localization of EccCb1 (PubMed:22233444). Loss of DNA conjugation when disrupted in recipient strain (MKD8) (PubMed:22233444)
Accumulates reduced levels of 23S rRNA, no significant difference in 16S or 5S rRNA levels, nor in rpmF transcripts (ribosomal protein L32, next gene in its operon). No visible growth defects on rich medium at 37 or 25 degrees Celsius
Retains 2-benzoxazolinone (BOA)-tolerance and metabolic degradation capability (PubMed:26808652). Does not affect the virulence against maize seedlings (PubMed:26808652)
Decreased body weight and lean mass without alterations in food intake (PubMed:31722427). Adult mice show spatial cognitive deficits, possibly caused by defects in development and function of oligodendrocyte precursor cells (PubMed:30485550). Mice display a reduction of the corpus callosum with a decline in the number of myelinated axons and loose myelin sheath (PubMed:31174389). They also show impaired development of the cerebral cortex, characterized by impaired growth of radial glial scaffold (PubMed:31462248)
No visible phenotype under normal growth conditions, but mutant plants show increased resistance to infection by the bacterial wilt pathogen Ralstonia solanacearum
Impaired hinge point formation in the forebrain and midbrain cavities at 22 hours post-fertilization (hpf) in 95% of embryos (PubMed:30948426). Moderate curvature of the dorsal axis in 35% of embryos at 28 hpf which disappears at later stages (PubMed:30948426). Mild abnormalities in midbrain and forebrain ventricular cavities at 56 hpf (PubMed:30948426)
Impaired behavioral responses, ataxia, spontaneous myoclonic seizures and progressive accumulation of poorly-branched, insoluble forms of glycogen (Lafora bodies) in liver, brain and skeletal muscle tissue (PubMed:12019206, PubMed:18040046, PubMed:24430976). Expression of both wild-type Epm2a and mutated Epm2a without phosphatase activity can abolish the appearance of Lafora bodies in brain and heart from 7 to over 12 month old mutant mice (PubMed:24430976). At 3 months of age, overall glycogen levels are normal; by 9 months of age, a 3-fold increase in overall glycogen levels and a 6-fold increase in glycogen phosphate levels is observed (PubMed:18040046, PubMed:18852261, PubMed:22669944, PubMed:23663739). Muscle glycogen has an altered structure, with a reduced size, an abnormally high proportion of very short side chains, fewer medium-length chains and an increased number of long chains (PubMed:23663739). Glycogen synthase (Gys1) and 1,4-alpha-glucan-branching enzyme (Gbe1) activities in brain and muscle tissue are normal (PubMed:18040046). 10 month old mice have neurofibrillary tangles (NFTs, aggregates of hyperphosphorylated Mapt/Tau) in brain and muscle tissue, however NFTs are not observed in 4 and 6 month old mice (PubMed:19542233). 3- and 12- month old mice show reduced numbers of autophagosomes in liver extracts, and 3-month old starved mice have increased levels of the autophagy dysfunction marker Map1lc3b/LC3-II and increased levels of ubiquitinated proteins, suggesting impaired macroautophagy (PubMed:20453062)
Abolishes RNA-induced silencing complex (RISC) assembly and RNAi silencing activity (PubMed:15066283, PubMed:28416567, PubMed:29317541, PubMed:32843367). Abolishes siRNA unwinding prior to loading onto the RNA-induced silencing complex (RISC) (PubMed:15550672). Decreased levels of endo-siRNAs (PubMed:15066283, PubMed:16554838, PubMed:24488111, PubMed:28416567, PubMed:29317541, PubMed:32843367). Increased susceptibility to infection with RNA viruses such as Flock House virus, Drosophila C virus or Sindbis virus (PubMed:16554838). No effect on the processing of pre-miRNAs (PubMed:24488111). RNAi-mediated knockdown inhibits the induction of the antifungal peptide Drs in response to M.luteus challenge (PubMed:26601278). Also highly susceptible to infection with A.fumigatus, with 80% of flies dying six days after infection (PubMed:26601278)
No visible phenotype; cells are more sensitive to UV-C light, H(2)O(2), CdSO(4), SeO(3) and SeO(4)
Pleiotropic effects on plant growth and development, including dwarf size, aberrant root development, and short petals and stamens in flowers. No embryonic phenotype. Increased expression of EML (PubMed:17151888)
Small and pale plants, with altered chloroplast morphology (anarchic membrane organization) and reduced photosynthetic performance associated with a reduction in CSP41A levels. Altered monosaccharide pattern of heteroglycans. Lethal when associated with CSP41A disruption. Reduced transcript levels of photosynthesis genes. Defects in embryo development. The csp41b-2 prin2-2 double mutant is embryo lethal (PubMed:25161659)
Defects in meiotic double-strand breaks (DSBs) repair and reduced crossover formation. However, discrepancies exist between the different reports. According to a report, deletion induces male sterility (PubMed:18316482). Females are fertile with reduced litter. Adult mice show an arrest in male meiosis and aberrant chromosome segregation in anaphase spermatocytes. Chromosomal asynapsis and reduced crossover formation are observed, leading to elimination of spermatocytes at the pachytene and anaphase I stages (PubMed:18316482). According to another report, both male and female mice are fertile and produce normal-sized litters with normal Mendelian ratios (PubMed:18369460)
Male mice display normal sexual behavior but are sterile with testes that are 25% smaller than the wild-type. Round spermatids arrest at step 8 and fail to elongate. Chromatoid bodies are unusually condensed, greatly reduced in size and lack the typical amorphous texture throughout all steps of spermiogenesis
Mutant lacking this gene exhibits growth and cell shape defects at pH above 8, but not at pH values of up to 7 (PubMed:36450355). The mutant has less peptidoglycan than the wild type, and modest cross-linking defects with concurrent accumulation of the peptidoglycan precursor UDP-N-acetylmuramyl pentapeptide (UDP-M5) (PubMed:36450355). UndP recycling is impaired and mutant shows increased cell surface UndP levels (PubMed:36450355). The mutant exhibits severe colonization defects in an infant rabbit model (PubMed:36450355)
No visible phenotype under normal growth conditions, but the double mutants brca2a and brca2b are sterile due to aberrant chromosome aggregates, chromosomal fragmentation and missegregation during meiosis
No visible phenotype and normal nucleoids
Cells lacking both speB and speE genes show defective growth at 70 degrees Celsius and significantly defective growth at 78 degrees Celsius. They accumulate agmatine and N1-aminopropylagmatine
Deletion of the ramC-ramS-ramA-ramB operon on rich medium leads to an initially bald (no aerial hyphae) phenotype; after 4 days develops a substantial aerial mycelium. No expression of SapB, normal expression of chaplins. Wild-type mycelium on minimal medium. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae
Significant loss of the bacterial outer membrane, not as able to induce apoptosis as wild-type bacteria in human cell lines
Mutation impairs colony surface architecture (PubMed:16430695). Mutant forms pellicles with less extracellular material (PubMed:16430696). Deletion of the gene results in the production of asymmetric spores that accumulate misassembled material in one pole and have a greatly expanded undercoat and an altered outer coat structure (PubMed:10368135)
Embryonic lethality at E9.5-10.5, possibly caused by DNA damage
Significantly impairs the rate of cell growth and, when combined with a previously characterized dynein inhibition, results in dramatic defects in mitotic spindle assembly
Cells lacking this gene grow on cholesterol at a rate that is 60% that of the wild-type and develop a pink color consistent with the accumulation and nonenzymatic oxidation of a catechol
Extreme dwarf, low tillering and no heading phenotypes
Diffuse movement of Sara-expressing endosomes, failed targeting of Sara-expressing endosomes to the central spindle and symmetric endosome localization in daughter SOP cells
No visible phenotype and no effect on pathogen sensitivity
Early termination of shoot meristems, reduced leaf formation and reduced seed setting
RNAi-mediated knockdown results in elongated mitochondria
RNAi-mediated knockdown causes severe embryonic lethality (PubMed:10521400). Causes a failure to duplicate centrioles resulting in the formation of monopolar spindles at the 2-cell embryonic stage, a failure to align chromosomes at the metaphase plate, delayed cell cycle progression and defects in mitotic exit including failure to reform nuclei and decondense chromatin (PubMed:17218259, PubMed:21497766). Also causes a reduction in centrosomal microtubules (PubMed:17218259). In addition, recruitment of sas-6 to centriole is impaired and sas-5 and zyg-1 protein levels are reduced (PubMed:21497766). Few of the surviving animals show occasional defects in vulva induction (PubMed:10521400). Partially suppresses multivulva formation in a let-60 n1046 mutant background (PubMed:10521400)
Impairs the production of neosartorin and accumulates deacetylneosartorin and novofumigatin A
Not essential, no effect on the SOS response genes, no change in resistance to DNA-damaging agents including mitomycin C
These mice are healthy and show no phenotypic abnormalities. Mice display hyperbilirubinemia and reduced levels of biliary GSH
Reduced survival after heat shock (50 degrees Celsius), treatment at pH 4.0, exposure to detergent and oxidative stress (5 mM H(2)O(2)). Additionally an inducible protective response to oxidative stress present in the wild type was absent in the mutant
On a chow diet, mutants show no difference in food intake, energy expenditure or body weight compare to wild-type controls. On high-fat diet, they gain substantially more weight and are more glucose intolerant. Diet-induced obese mutants are hyperphagic and have 32% greater total mass and 9% greater lean mass than diet-induced obese wild-type mice (PubMed:28953886, PubMed:28846097, PubMed:28846099). Upon chronical administration of GDF15, mutants are refractory to the GDF15 effects in comparison to wild-types that show attenuated food-intake and sustained weightloss (PubMed:28846098, PubMed:28953886, PubMed:28846097, PubMed:28846099)
Reduced plasmodesmata (PD)-mediated horizontal and vertical cell-to-cell transport in leaves
Collapsed xylem vessels in the inflorescence stems
Flies fail to jump in response to a light-off stimulus. Neural-specific mutants exhibit modified giant fiber system and gustatory response
Cells show defects in V-ATPase enzyme assembly, endocytic function and cytosolic pH regulation
Viable and fertile, but adults have a shortened lifespan. Flies deficient in both Myo31DF and Myo61F are viable and fertile, but adults have a shorter lifespan than single mutants. Flies deficient in Myo61F show normal left-right asymmetry of the embryonic gut and normal, dextral rotation of male genitalia, and the same is observed in mutants deficient in both Myo61F and Myo95E. Mutants deficient in Myo31DF and Myo61F display stronger sinistral rotation of the male genitalia than mutants deficient for Myo31DF (PubMed:25659376). RNAi-mediated knockdown causes defects in embryonic midgut laterality, but only with low-frequency (PubMed:16598258). RNAi-mediated knockdown has no effect on normal, dextral rotation of male genitalia (PubMed:22491943). Combined RNAi-mediated knockdown of Myo31DF and Myo61F gives rise to the same phenotype as knockdown of Myo31DF alone, i.e sinistral rotation of the male genitalia (PubMed:22491943)
Sensitive to sordarin (fungicide), methyl methanesulfonate (MMS, causes DNA breaks), hydroxyurea (HU, ribonucleotide reductase inhibitor), thiabendazole (TBZ), sirolimus (TORC1 inhibitor), thermal stress, and cold (PubMed:28555368, PubMed:28775286). Simultaneous disruption of atf1 exacerbates sensitivity to HU and MMS (PubMed:28775286). Global protein levels are unaffected (PubMed:28775286)
Not able to grow photoautotrophically, grows normally heterotrophically. Accumulates less than 10% PSII, although the subunits are synthesized normally
The galP/llmg_0963 double mutant grows poorly on galactose
The double mutants c3h14 and c3h15 have reductions in stem secondary cell wall thickening and defects in anther development
Deterioration of locomotion in adults with climbing ability strongly depressed
Cilia in multiciliate cells are motile but fail to produce flow. Multiciliated cells are present in the normal number, cilia of normal length and of normal density. They are however misoriented
Loss of resistance to bacteriophage lambda infection, loss of plasmid silencing. Decreased levels of crRNA
Defective in micropylar pollen tube guidance leading to zygotic lethality
CCDC88A knockout mice display mesial-temporal lobe epilepsy and early demise, and structural brain developmental defects affecting the corpus callosum and cerebrum
No visible phenotype in culture or upon infection of mice. Significantly fewer persister cells are generated following exposure to gentamicin, levofloxacin and isoniazid
Reduction of eugenol production but not of isoeugenol associated with abnormally purple-colored leaves and stems (e.g. especially in vascular bundles), and pink flowers due to the accumulation of anthocyanins (e.g. petunidin, delphinidin, malvidin and peonidin); purple floral buds and pink blush upon petals opening that fade in older flowers (PubMed:26620524). Disturbed CoA esters homeostasis and reduced lignin levels, but accumulation of anthocyanins associated with perturbated biosynthetic gene expression (PubMed:26620524)
RNAi-mediated knockdown in AWB and AWC sensory neurons results in a defective preference between different food odors
Abolishes growth on benzoic acid, benzaldehyde, benzyl alcohol, p-anisic acid, p-anisyl alcohol, and p-hydroxybenzoic acid; and reduces growth on p-coumaric acid and cinnamic acid
Reduced flavonols levels in leaves. The double mutants myb11 myb111 and myb12 myb111 and triple mutant myb11 myb12 myb111 accumulate less flavonols in roots, leaves, stems, inflorescence, and siliques (PubMed:20731781). The triple mutant myb11 myb12 myb111 is impaired in flavonols biosynthesis and exhibits a reduced UV-B tolerance (PubMed:17419845, PubMed:19895401)
Cells are viable
RNAi-mediated knockdown disrupts both the localization of pot-1 and the anchoring of telomeres to the nuclear envelope in early embryos
Impairs the production od leporins B and C or any other potential open ring 2-pyridone (PubMed:26051490)
Mice are viable and born at the expected Mendelian ratio. Adult mice show compensated anemia and display mild microcytosis and spherocytosis. The erythrocyte plasma membrane association with the spectrin-actin skeleton is fragile and mechanically unstable
Deletion mutant is strongly impaired in its ability to enter macrophages. Deletion does not affect the intracellular growth in macrophages
Leads to reduced levels of TOM complex but retains the respiratory chain
Does not completely abolish the production of quinolactacin A2, but leasd to substantial attenuation of the titer to about 5%
Loss of resistance to protamine
Does not affect the production of beauvericin but increases the expression of BEA1 and BEA2 (PubMed:27750383)
Male mice are infertile with severely decreased sperm motility and abnormal sperm flagellar morphology
Mice are overtly normal in appearance and size and do not show obvious abnormalities in motor performance or coordination. Nerve conduction studies reveal no significant differences between mutant and control animals
Viable and fertile with no gross defects. Loss of neutral mannosidase activity leading to accumulation of free higher-order oligosaccharides such as Man(8-9)GlcNAc(1) in many organs, particularly liver and heart. Tissues show histopathological changes with strongest defects observed in liver, small intestine, kidney and central nervous system (CNS). In liver, hepatocytes appear swollen with increased levels of glycogen and accumulation of lipid droplets. In the small intestine, enterocytes accumulate glycogen apically and also develop vacuoles in the basal cell region. In the CNS, neurons in isocortex lamina V show signs of degeneration with formation of vacuoles in basal cell regions. Vacuolation is also found in glial cells of white matter tracts. In kidney, there are signs of fibrosis along Bowman's capsule and a small number of glomeruli appear to be collapsed
Monkeys die soon after birth and exhibit severe prenatal developmental retardation (PubMed:30135584). The molecular developmental stage of the monkeys mimics that of wild-type fetuses at 2-4 months of gestational age (PubMed:30135584). Neuronal differentiation is strongly delayed, due to hyperacetylation of histone H3 at 'Lys-56' (H3K56ac), leading to up-regulation of the long non-coding RNA H19 (PubMed:30135584)
Disruption of this gene prevents growth with vanillate. Only PCA is accumulated during the incubation of vanillate with the whole cells of the ligC insertion mutant. A repression of PCA 4,5-dioxygenase (LigAB) activity is also observed
Homozygous Fzd9 knockout mice show deficits in spatial memory behaviors. Heterozygous and homozygous Fzd9 knockout mice appear healthy, develop normally, and are fertile (PubMed:15930120). Homozygous Fzd9 knockout mice display osteopenia (PubMed:21402791)
Accumulates the precursor SL1278. Can produce SL-1, albeit at reduced levels
Essential for in vitro growth (PubMed:34644596). Knockdown of the gene decreases the cell growth and alters the integrity of cell wall and cell membrane (PubMed:34644596)
Mice are healthy, grow normally, are fertile and show no evidence of severe sensory or motor abnormalities (PubMed:11124984). Show increased seizure susceptibility and reduced long-range synchronization of gamma oscillations over distance in the neocortex (PubMed:22539821). Thalamocortical neurons show a strong attenuation in maximal peak firing rates, with larger spikes and slower action potential repolarization (PubMed:17761775). Neocortical GABAergic interneurons display broader spikes and sustain lower trains of high-frequency spikes without accommodation or spike doublets in rapid succession (PubMed:11124984, PubMed:22539821). Histamine H2 receptor- and PKA-induced hippocampal inhibitory interneurons display no maximal sustainable firing frequency modulation (PubMed:10903572). Double knockout of KCNC2 and KCNC1 exhibited disrupted daily rhythms in wheel-running behavior (PubMed:21414897). Display smaller outward currents and slower deactivation in starburst amacrine cells compared with KCNC2 knockout mice (PubMed:15317859). Neocortical GABAergic interneuron terminals display also a reduced rate of spike repolarization, broader spike, increased calcium influx and release of GABA neurotransmitter (PubMed:15917463). Suprachiasmatic nucleus (SCN) neurons display a reduction in the magnitude of fast delayed rectifier potassium currents, wider action potentials, reduced spontaneous firing activity during the day and reduced NMDA-evoked increase firing responses during the night (PubMed:21414897)
Grows normally in liquid culture. Traffics into host (human and mouse) acidified compartments early after phagocytosis, suggesting it no longer arrests phagosome maturation as well as wild-type (PubMed:20844580, PubMed:27220037). Grows normally in mouse macrophages at 7 days post-infection (PubMed:20844580). Initial uptake (2 hours post-infection) by host (mouse) macrophages is higher than wild-type, but decreased growth in host (mouse) macrophages from 1 to 3 days post-infection, wild-type growth at 4 days (PubMed:27220037). Initial uptake of bacteria is the same in TLR2-/TLR2- mice (PubMed:27220037). Decreased host (mouse) induction of pro-inflammatory chemokines gamma IP-10 (Cxcl10), MCP-1 (Ccl2) and MIP-1-alpha (Ccl3); decreased induction is not TLR2-dependent (PubMed:27220037)
Does not affect SDH or TIM22 complex formation
Deletion of vasX gene together with deletion of vgrG3 fail to kill Escherichia coli
Embryonic lethal. Lethality occurs at the preimplantation stage, between 3.5 and 4.5 days post-coitum (dpc)
Does not abolish the production of eupenifeldin
RNAi-mediated knockdown leads to loss of ND-30 and reduced mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) activity (PubMed:23509070). Larvae exhibit elevated reactive oxygen species (ROS) and an up-regulation of Hsp60 (PubMed:23509070). RNAi-mediated knockdown in the eye results in retinal degeneration exacerbated with aging and accompanied by high levels of ROS and accumulation of lipid droplets in the glia (PubMed:23509070, PubMed:25594180). RNAi-mediated knockdown in neurons results in lipid droplet accumulation and increased levels of peroxidated lipids (PubMed:25594180)
Reduced litter size and increased polyspermy in the perivitelline space following fertilization
Does not affect the production of acurin A
Embryonically lethal. Embryos die at about 12.5 dpc, due to important developmental defects of the endocardium and myocardium, plus generalized defects in vascular development
Cells lacking this gene show a dramatic increase in the concentration of citrate. This accumulation of citrate prevents sporulation due to chelation by citrate of divalent cations required for proper functioning of the Spo0A-initiated phosphorelay
No visible phenotype; due to the redundancy with GLDP1. Gldp1 and gldp2 double mutants have a seedling development arrested at the cotyledon stage even under nonphotorespiratory conditions
Deletion mutant lacking both trhP1 and trhP2 shows reduced 5-methoxyuridine (mo5U) formation in tRNAs
Mice develop ocular damages, bone defects and behavioral anomalies (PubMed:12370309). Defects are caused by cystine accumulation in all organs tested, and formation of cystine crystals (PubMed:12370309). Mice do not develop signs of a proximal tubulopathy or renal failure (PubMed:12370309). Cystine accumulation in the central nervous system causes severe age-related memory deficits: spatial reference and working memory deficits are observed in middle-aged mice (PubMed:17977621). In eyes, cystine crystals induce inflammatory and immune response with aging associated with loss of keratocyte and endothelial cells (PubMed:21897743). Mice show a strong increase in hair pheomelanin content (PubMed:22649030). Decreased mTORC1 signaling pathway in proximal tubular cell lines (PubMed:26449607)
Mice display a lower bone mineral density in cortical bones with femurs more susceptible to bone fracture, but do not exhibit any important skeletal abnormalities. Calvarial cells reveal normal number of osteoblast precursor cells with adequate proliferative capacity, but have impaired osteogenic differentiation. Furthermore, following cardiac transplantation, they display permanent survival under rapamycin regimen and cardiac transplants also show markedly decreased production of key cytokine and chemokine. The incidence of chronic transplant rejection is also inhibited. Mice also develop more severe airway inflammation and experimental autoimmune encephalomyelitis earlier than wild-type littermates as well as accumulate higher concentrations of autoantibodies to DNA
Male mice were infertile due to their short immotile spermatozoa (PubMed:31961863). Axoneme formation and manchette removal are impaired in spermatids (PubMed:31961863). No morphological abnormalities seen in multicilia of ependymal and tracheal epithelia and cilia motility is not impaired in ependymal cilia (PubMed:31961863)
Severe sterility at the restrictive temperature of 25 degrees Celsius (PubMed:16360684). Accumulation of unfertilized oocytes in the uterus, although this is controversial (PubMed:16360684). Simultaneous RNAi-mediated knockdown with egg-1 results in a fragmented eggshell chitin layer which often accumulates at one end of the embryo (PubMed:20971008). In unfertilized oocytes, disrupts the homogenous distribution of cortical chitin synthase chs-1, pseudophosphatase egg-3 and kinase mbk-2 (PubMed:20971008). In a egg-1 (tm1071) mutant background, causes polyspermy (PubMed:20971008)
Knockout mutant shows significantly slow growth in minimal medium, which could be partially restored by the addition of lysine. Exogenous addition of ornithine has a negligible effect on the growth of the mutant, but growth is much improved by the simultaneous addition of lysine and ornithine
No visible growth phenotype (PubMed:9660827). An rluC deletion suppresses a bipA deletion; in a double rluC-bipA deletion the cold-sensitive growth and ribosome assembly defects at 20 degrees Celsius due to bipA are fully suppressed and decreased capsule synthesis is partially suppressed (PubMed:18820021, PubMed:25777676)
Disruption mutant lacks lipopolysaccharide O-side chain. In vivo, mutants are attenuated in C57BL/6 and IRF-1 knockout mice. In bone marrow-derived macrophages (BMDM), mutants are attenuated, cannot reach a replicative niche and induce higher levels of IL-12 and TNF-alpha when compared to parental smooth strains
A psd1 psd2 double mutant displays diminished phosphatidylethanolamine levels. It exhibits defects in cell wall integrity, mitochondrial function, filamentous growth and is less virulent than the wild-type
Cells have tip formation delayed by 3 to 4 hours and complete development with normally shaped fruiting bodies only after 26-27 hour. Cells are able to form normally shaped mature fruiting bodies, however with a lower number of produced spores
Impairs the conversion of 5,5'-dideoxy-oosporein into oosporein (PubMed:26305932)
Causes defective 3'-end formation and transcriptional read-through
Mice exhibit a disruption of the free-running period of circadian rhythms under constant light and normal entrainment of behavior to light-dark (LD) cycles
Flies die at early pupal stage and exhibit abnormal locomotion (PubMed:16055062). Mitochondria in muscles and neurons are abnormally distributed (PubMed:16055062). Instead of being transported into axons and dendrites, mitochondria accumulate in parallel rows in neuronal somata (PubMed:16055062). Mutant NMJs lack presynaptic mitochondria, but neurotransmitter release and acute Ca(2+) buffering is only impaired during prolonged stimulation (PubMed:16055062). RNAi-mediated knockdown perturbs mitochondrial distribution and dynamics (PubMed:27716788). RNAi-mediated knockdown in the dopaminergic (DA) neurons decreases mitochondrial length and mitochondrial flux, and mitochondria accumulate in the most distal boutons of the DA motor neuron nerve terminals (PubMed:22396657)
Seedling lethal when grown on soil. Albino or chlorotic dwarfed plants that accumulate unprocessed precursor proteins and chloroplast ferritin clusters when grown in vitro
50% reduction in tocopherol content in leaves. Plants able to grow on soil and to produce fertile seeds. Vte5 and vte6 double mutants can grow photoautotrophically and show a stay-green phenotype with strongly delayed senescence and extended lifetime
Not essential for growth in culture, or growth in vivo in mouse and guinea pig infections (PubMed:11880648). Disruption significantly enhances survival of immunocompetent mice (PubMed:11880648). Decreased bacterial growth in guinea pig lungs, but not spleen (PubMed:26637353). Growth on minimal media, glucose or succinate is poor, suggesting WhiB3 is involved in starvation response (PubMed:17609386). Growth on acetate is better than wild-type (PubMed:17609386). 55-fold decreased survival at pH 4.5, no difference at pH 5.5 or 6.6 (PubMed:26637353). Altered expression of genes involved in cell wall lipid composition, the ESX-1 secretion system and redox balance, impairs the mycothiol-specific reductive response to acid stress (PubMed:26637353). Dysfunctional respiration when grown in pyruvate, increased intracellular ergothioneine (ERG) production when grown in a number of carbon sources (PubMed:26774486). Upon infection of human THP-1 macrophage-like cells bacteria are localized to acidified lysosomes (M.tuberculosis usually blocks lysosome acidification), do not reduce mycothiol (MSH) and have significantly decreased survival (PubMed:26637353). Leads to up-regulation of host innate immunity genes usually repressed by M.tuberculosis (such as phagosome maturation and TLR signaling) and down-regulation of genes that inhibit autophagy (such as mTOR) (PubMed:26637353). Cell size, shape and surface architecture are perturbed, as is synthesis of cell surface associated virulence lipids both in culture and in cultured macrophages, or in response to oxidizing or reducing agents (PubMed:19680450). Disrupted strains are more resistant to toxic levels of propionate (PubMed:19680450)
Mutant mice are born at normal Mendelian ratios. They appear healthy and show no signs of enteropathy, but exhibit marked increase in the number of mucosa-associated bacteria, predominantly Gram-positive, relative to cohoused wild-type littermates in distal small intestine (PubMed:21998396). Nociceptor-specific deficient mice exhibit high mortality rates in response to endotoxin accompanied by increased kynurenine pathway and impaired ATP production in the brain (PubMed:35263589)
Methionine auxotroph. Defect is complemented by expression of the E.coli metA gene
Double RNAi-mediated knockdown with dcap-2 reduces survival at 20 degrees Celsius
Double knockout with par-2 mutant (it5ts) partially suppresses the lethality phenotype of the par-2 mutant (it5ts) at 25 degrees Celsius
Disruption of pollen tube growth in the pistil and reduction in the ability to target ovules
In the mosquito midgut, male gametocyte exflagellation is normal; however, the rupture of the host erythrocyte cell membrane is delayed (PubMed:22817984). Fertilization is normal, however zygote development into ookinetes is arrested at the retort stage where ookinetes are still immotile (PubMed:22817984, PubMed:24265753). In arrested ookinetes, protein levels, but not mRNA levels, of a subset of proteins including MyoA and MTIP, two components of the motor complex, CTRP and SOAP are strongly reduced (PubMed:22817984). In arrested ookinetes, apical complex including collar, apical rings and micronemes and the pellicle, consisting of the plasma membrane, the inner membrane complex and the subpellicular microtubules are normally assembled (PubMed:22817984). During host liver invasion, sporozoite attachment to the substrate is normal but sporozoite uninterrupted circular movement is impaired (PubMed:32866196). No effect on cell traversal but reduces invasion of host hepatocytes (PubMed:32866196). No defect in the asexual erythrocyte stage; infection, development and egress from host erythrocytes are normal (PubMed:24265753). Conditional knockout in sporozoites, does not affect sporozoite invasion of the mosquito salivary gland or invasion of host hepatocytes (PubMed:22817984)
Impaired RNAi-mediated heterochromatin silencing
Deletion mutant deregulates expression of the type III secretion genes
Strong reduction of adventitious (crown) root formation
Cells lacking this gene do not produce lasalocid, they only produce iso-lasalocid
Impairment of growth, macropinocytosis, phagocytosis and movement. Prolonged cytokinesis with exaggerated cortical protrusions and production of multinucleate cells
No visible phenotype. Flies are viable and fertile. RNAi-mediated knockdown does not affect mitotic progression
Displays highly fragmented vacuoles
Deficient in arabidopyrones, but normal amounts of sinapate esters
Loss of resistance to bacteriophage
Bushy morphology, reduced fertility, blue fluorescence under UV light and resistance to the anthranilate analog 6-methylanthranilate
Impaired expression of ODO1, EOBI and several biosynthetic floral scent-related genes (e.g. IGS, PAL2 and CFAT) leading to reduced scent production in flowers (e.g. phenylpropanoid volatiles including benzaldehyde, phenylethyl alcohol, benzylbenzoate and isoeugenol) (PubMed:20543029, PubMed:21464473, PubMed:23275577). Impaired anthesis enter and premature senescence of flowers (PubMed:21464473). Altered cell wall modifier transcript levels in flowers (PubMed:21464473)
In the presence of wild-type RNase PH (rph) 80-90% reduction in viability in stationary phase (96 hours of growth) at 31 and 42 degrees Celsius or when cells are rapidly starved at 42 degrees Celsius; if rph is also absent there is no visible phenotype under these 3 growth conditions (PubMed:28625967). Its absence leads to extensive degradation of rRNA (PubMed:28625967)
Strains lacking psmA2 gene alone display relatively normal growth rate and overall cell yield. However, depletion of psmA1 and psmA2 together renders the cells inviable
Mice develop normally, display no pathological abnormalities and are fertile (PubMed:15632077)
Morpholino knockdown leads to phenotypes ranging in severity from weak to severe that are developmentally delayed with disturbed brain patterning, necrosis in areas of the brain, aberrant eye development, impaired somitogenesis resulting in stacked somites, perturbed yolk sac extension and posterior axis extension with a high mortality rate of 88% at 5 days post-fertilization
Morpholino knockdown of the protein leads to defective left-right (LR) axis formation in the embryo. Cilia number and length are reduced in the Kupffer's vesicle (KV). Morpholino knockdown of the protein in Kupffer's vesicle alone is still able to generate the phenotype, indicating that Gpr22 regulates LR asymmetry through the KV
Reduced rhizobacterium B.cereus AR156-induced systemic resistance (ISR) to P.syringae pv. tomato DC3000 associated with reduced jasmonic acid (JA)-mediated signal pathway. Plants lacking both WRKY11 and WRKY70 are totally impaired in B.cereus AR156-mediated ISR
Abnormal exine pattern of pollen grains and complete male sterility
Slightly increased angles of leaf inclination due to longer lamina joint with greater lengths of both adaxial and abaxial sclerenchyma cells (PubMed:29610209). The double mutant spx1 spx2 has abnormally inclinated leaves (PubMed:29610209). Altered leaf inclination phenotypes of the rli1-1 single mutant are suppressed in the triple mutant spx1 spx2 rli1-1 (PubMed:29610209)
Plants lacking both PES1 and PES2 grow normally but show reduced phytyl ester and triacylglycerol accumulation
Female gametophytic mutant which exhibits embryo development without any endosperm due to a successful sperm cell fusion with the egg cell but an impaired fusion of the second sperm cell with the central cell, thus resulting in single fertilization (PubMed:22872756, PubMed:17965055). Embryos can develop up to the globular stage in the absence of endosperm (PubMed:17965055)
No visible phenotype when deleted singly or as the parDE3 operon
No visible phenotype (PubMed:11287620). Mice develop normally and have normal migration of leukocytes to lymphoid tissue and peripheral sites in several models of inflammation (PubMed:11287620)
No visible phenotype when grown under normal conditions; due to partial redundancy with CLB2. Tolerant to low-K(+) stress. Clb2 and cbl3 double mutants show stunted growth, reduced fertility and necrotic lesions at leaf tips. They also have a reduced vacuolar H(+)-ATPase activity, are hypersensitive to excessive metal ions and are more tolerant to low-K(+) conditions
Mutant mice are responsive to the psychotropic effects of cannabinoid but not to the cannabinoid-induced immunomodulation. They also show accelerated age-related trabecular bone loss and cortical expansion
Decreased K(+) content in roots
Plants show a hyperdormancy phenotype
Increased sensitivity to salt
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Causes only mild infection in point-inoculated spikelets of flowering wheat heads and impairs the spreading to nearby spikelets (PubMed:28894236). Strongly reduces the production of deoxynivalenol (DON), an important virulence determinant (PubMed:28894236)
Slightly smaller than the wild type
Flies that have reduced expression of all isoforms (transgenic RNA interference targeting the common C-terminal region) exhibit severe muscle degeneration in larvae and adult flies. Muscles were either ruptured, absent or the fibers were detached from their attachment sites at tendon cells. These are necrotic, not apoptotic processes
Defects in circulating erythroid cells. Embryos are anemic despite normal expression of the erythroid cell markers. The erythrocytes from embryos that survive to adult stage exhibit hypochromic, microcytic anemia. Histological analysis of adult haematopoietic tissues does not show morphological defects. Defects are due to changes in the mitochondrial pH-and consequently the redox potential-to change to a level that reduces [2Fe-2S] cluster-containing fech activity, thereby reducing heme synthesis, resulting in hypochromic anemia
Null mutants retain the ability to ciliate and survive through gestation. They die shortly after birth due to different phenotypes reminiscent of Shh signaling defects: polydactyly, cleft palate, lung isomerisms, and structural heart defects (PubMed:22595669). Conditional knockout in male germ cells results in infertility, abnormal sperm morphology, significantly reduced sperm count and sperm mobility and disruption of sperm lipid rafts (PubMed:28964737, PubMed:28430876). Mutant mice with germline deletion of IFT25 die shortly after birth with structural defects in most organs including the kidneys, where duplicated collecting duct system and/or duplex kidney is often observed (PubMed:29626631)
Decreased bacterial resistance to hydrogen peroxide and accelerated bacterial killing of macrophages. increased levels of c-di-GMP (PubMed:15882417). Down-regulation of rdar morphology, 50% reduction in CsgD expression, cellulose and curli fimbriae, increased swimming and swarming. Decrease in c-di-GMP levels (PubMed:19376870). Derepresses transcription of flagellar class II operons in nutrient-poor medium
Deletion of the gene results in overproduction of DSF
No visible phenotype, however one of HtpX or FtsH is essential for cell viability
No visible phenotype. Has no apparent effect on circadian oscillation of protein levels. Mice exhibit a small but significant increase in circadian period length
In plants lacking both BCA1 and BCA4, impaired CO(2)-regulation of stomatal movements associated with reduced beta carbonic anhydrase activity in guard cells, and increased stomatal density
Normal seedling germination and plant growth and development in standard conditions (PubMed:21599668). No abnormal levels of nucleoside intermediates (PubMed:21599668). The roots of the double mutant urh1 urh2 accumulates strong levels of xanthosine (PubMed:21599668, PubMed:30787180)
Mice are viable and fertile (PubMed:19150847). They however show a defasciculation of spinal cord commissural axons and absence of all forebrain commissures (PubMed:19150847, PubMed:23206892). Double knockout of Tsku and Draxi results in a higher frequency of anterior commissure defects than single knockout of either Tsku or Draxi (PubMed:23206892)
Reduced emission of floral volatile benzenoid/phenylpropanoid (FVBP) compounds associated with a strongly impaired chorismate mutase activity in corolla tissues
Mutant T-cells show decreased Ca(2+) microdomains directly in the initial period after TCR stimulation (PubMed:35119925). In macrophages, an attenuation of P2X7-induced cell death is observed correlated with altered cleavage of caspase-1/CASP1 and a decrease in IL-1beta production (PubMed:26456657)
Cells lacking this gene lose the ability to utilize ethanol as the sole growth substrate (PubMed:31113891). Glycosylated mycofactocins are not detected in this mutant (PubMed:33014324)
Retarded growth, collapsed root hairs, defective trichomes, abnormal accumulation of high levels of anthocyanin and overall reduced plant size (PubMed:26052747). No aborted seed phenotype and normal production of seed sets (PubMed:20163554, PubMed:26052747)
71 percent of embryos of mutant mothers develop into sterile adults with extra body muscle cells at the restrictive temperature (25 degrees Celsius) (PubMed:7555722). Low embryonic lethality (7-8 percent) (PubMed:7555722). Loss of lin-5 and grp-1/2 enrichment at the EMS/P2 cell boundaries at the 4-cell embryonic stage (PubMed:12730122). Decrease in phosphotyrosine levels at the site of contact between P2 and EMS cells (PubMed:12110172)
IfkA null cells have defects such as an earlier aggregation, a formation of larger than normal mounds and ultimately a formation of fruiting bodies that are also larger than normal. The early aggregation phenotype reflects an apparent, earlier than normal establishment of the cAMP pulsing system. Cells lacking ifkA and ifkB display severe morphological and patterning defects. Mutant cells aggregate in streams that give tightly clumped mounds. Fingers form from the mounds but remain attached to one another, especially at their bases. The fingers culminate to give fused and entangled structures lacking proper stalk but containing some spores
A double vgrGA-vgrGB deletion inhibits the ability of RhsB to inhibits cell growth. VgrGB alone restores RhsB-mediated cell growth
Slightly delayed and reduced germination rate. Reduced root length. Enhanced sensitivity to methyl methanesulfonate (MMS)
Cells lacking this gene form dendritic (branched) swarms more slowly and arrest prematurely on B-medium. Swarms normally on LB medium
Impaired TNF-alpha-mediated NF-kappa-B activation and enhanced JNK-mediated apoptosis
Decreased tolerance to drought stress
Newly hatched animals are small and coiled, do not grow or feed, can barely move and die within a few days
Cells show morphological abnormalities such as branching and swelling forms during vegetative growth. It is unable to persist during stationary phase, presumably because of nutrient limitation occurring during this growth phase. It shows an important growth defect in human HeLa cells and in ovine macrophages MOCL3. At four weeks post infection the number of viable bacteria (deletion mutant) in mouse spleen is markedly reduced compared to the wild-type. The deletion mutant shows very low levels or absence of VirB at all time points of growth
Mutant shows pleiotropic effects that include an inability of the spore mass to go all the way to the top. The upper cup, a tissue that derives from prestalk cells and anterior-like cells (ALCs), does not develop properly; it is unable to lift the spore mass to the top of the fruiting body, likely due to defective intercellular adhesion. The differentiated state becomes unstable; prespore cells transdifferentiate into prestalk and vice versa. Cells that find themselves in the wrong environment sort out to the zone that is appropriate to their new identity. The functional barrier that prevents intermixing between the prestalk and prespore zones becomes weakened. This permits prespore cells to move to the slug anterior and prestalk cells to the posterior. Cells that have moved to the wrong zone switch their state of differentiation in accord with their new location
Displays reduced hyphae formation in the presence of cysteine and leads to attenuated virulence
Small and narrow lateral organs, such as leaves, cotyledons, and flowers. Significant defects in the number of cells in both the leaf blade and leaf petiole (PubMed:22669825, PubMed:19392710). Excessive postmitotic cell enlargement in leaves (compensation phenotype) (PubMed:19392710). Plant missing GIF1/AN3 and OLI2, OLI5 or OLI7 have a strong compensation phenotype (PubMed:19392710). The double mutant an3 han-30 exhibits severe defects in cotyledon development such as ectopic roots formation at the apical region of the embryo and seedlings, and associated with an abnormal expansion of PLT1 expression from the basal embryonic region to the apical region (PubMed:22669825)
No visible phenotype under normal growth conditions, but mutant seedlings exhibit enhanced root wavy growth and curvature in response to gravitropism and phototropism
Early seeds germination on imbibition without stratification, and reduced abscisic acid (ABA)-mediated inhibition of stratified seeds germination (PubMed:26334616). Altered root exudation of phytochemicals, with increased phenolics (e.g. benzoic acid, salicylic acid, syringic acid, tartaric acid, lactic acid, alpha-linolenic acid, cyanidin, sinapoyl malate, valine and indole 3-acetic acid) and decreased sugars levels (e.g. raffinose, glucose, fructose and mannitol), leading to an overhaul of natural soil microbiota, including both fungal and bacterial communities; this phenotype is associated with an up-regulation of some genes involved in biosynthesis and transport of secondary metabolites, but the down-regulation of some sugar transporters (PubMed:19854857)
Viable with no gross developmental abnormalities or significant growth retardation. Gonad defects are present in both male and female mice. Testes are devoid of germ cells. Ovaries show premature depletion of primordial follicles with almost complete loss by 14 weeks of age, and aberrant estrous cycle. Significantly increased incidence of tumors, particularly ovarian tumors
Defects in protoxylem vessel formation in seedling roots
RNAi-mediated knockdown of the protein causes reduced 2-deoxy-D-glucose uptake, glucose oxidation and glucose conversion to triglyceride; simultaneous knockout of daf-2 or age-1 causes further reductions. The lifespan in low glucose environment is extended by 20-25% after knockdown, with 7% extension in daf-2 mutant background and no significant extension in age-1 mutant background. Fat accumulation in intestinal cells is increased. Brood size and dauer formation are not affected
RNAi-mediated knockdown results in decreased levels of N-palmitoyldopamine (PALDA) and N-oleoylethanolamine and higher levels of N-palmitoyl-derived fatty acid amides (FAAs), N-palmitoylglycine, palmitamide and palmitoleamide
Inhibition of primary root elongation and early lateral root emergence
Leads to the down-regulation of expression of asaB, asaC, asaD, and asaR; and completely abolishes ferriaspergillin production (PubMed:29674152)
Disruption of the gene prevents the development of competence as well as the transcription of comG, a late competence operon (PubMed:1715859). Disruption also decreases the expression of srfA, a regulatory operon needed for the expression of competence (PubMed:1715859)
No visible phenotype in normal conditions. Strong increase of embryonic lethality following cisplatin, nitrogen mustard or mitomycin-C (MMC) treatment
No visible phenotype under normal growth conditions (PubMed:27725774). Mutant seedlings exhibit increased sensitivity to salt stress (PubMed:27725774)
Leads to cold-sensitive growth and elongated buds. Is synthetic lethal with a MUD2 deletant
Impaired ascorbate oxidase activity and reduced apoplastic hydrogen peroxide H(2)O(2) and ascorbate peroxidase accumulation, especially in high salinity (PubMed:15883131). Short stems and late flowering (PubMed:15883131). Slightly increased ascorbate (AsA) contents in the apoplasm but lower monodehydroascorbate (DHA) contents (PubMed:15883131, PubMed:27255930). Increased tolerance for high salinity during vegetative growth, seed production and seed germination (PubMed:15883131). Higher resistance to oxidative stress agents such as methyl viologen (MV) and hydrogen peroxide H(2)O(2) (PubMed:15883131). Enhanced resistance to Turnip mosaic virus (TuMV) associated with an increased accumulation of ascorbic acid (AsA, AS) and dehydroascobic acid (DHA) due to a reduction of AS oxidation and activation of AS recycling (PubMed:27255930)
Reduced lifespan (PubMed:30595383). Prolonged expression of the lysosomal protein glo-1 12 hours after starvation (PubMed:30595383)
RNAi-mediated knockdown abrogates the increase in adipose triglyceride lipase atgl-1 expression seen in serotonin-treated animals
Cells lacking this gene exhibit a limited capacity for catabolism of L-Lys and L-Arg as the sole source of carbon and nitrogen. They don't secrete D-Lys in the growth medium. The stationary phase peptidoglycan structure does not differ between wild-type and the deletion mutant strains, indicating that products resulting from this enzyme activity are not incorporated into peptidoglycan under these conditions
Cells lacking this gene do not grow on propionate unless glutamate is added, and the addition of glutamate does not restore growth to the level of wild-type. Also unable to grow on acetate and citrate and only slight improvements are observed when glutamate is added. AcnB mutant also shows an impaired binding to the surface of macrophage-like cells, is less motile and possesses fewer flagella due to a level of the flagellum protein FliC lower. The acnAB double mutant does not grow on propionate even when supplemented with glutamate and is unable to respire propionate under anaerobic growth conditions
Causes abnormal ectopic expression of homeobox protein vab-7 in VB motor neurons (PubMed:17289921). Suppresses the inability to move backward in an unc-4 mutant background (PubMed:17289921, PubMed:22619391). In an unc-4 mutant background, expression of innexin unc-7 in puncta adjacent to VA motor neurons is significantly reduced for posterior neurons, probably as a result of miswiring of gap junctions (PubMed:17289921)
Stomatal defects in cotyledons and hypocotyls
Not essential; a double rpf1-rpf2 disruption mutant is also viable. The double mutant displays a prolonged lag phase and slower growth after transfer of long-stored cells into fresh medium
Reduced level of constitutive germ cell apoptosis on a ced-6 mutant background, in hermaphrodites (PubMed:17881492). Blocks DNA damage-induced germ cell apoptosis, but does not affect associated cell-cycle arrest (PubMed:17881492)
Embryo lethality at the globular or earlier stages (PubMed:24963069). Compromised pollen tubes micropylar guidance, but normal pollen germination and tube growth, associated with an abnormal localization of GPI-anchored proteins (e.g. COBL10) (PubMed:24963069). Impaired apical plasma membrane localization of COBL10 in pollen tubes, important for the growth of pollen tubes in the transmitting tract of pistil (PubMed:24963069). Lost A36 plasma membrane and cytoplasmic punctate localization which displays a constitutive reticular localization (PubMed:27872247)
Flies do not exhibit any general drinking defects, but do exhibit markedly reduced water-elicited proboscis extension reflex responses. Abolishes water-elicited spiking activity of water gustatory neurons
Under aerobic growth condition, deletion mutants display morphological defects and the cells are curled and show some bulges (PubMed:33556370). No aberrant morphology is observed for the deletion mutants under anaerobic growth conditions (PubMed:33556370)
Competition experiments between isogenic strains with or without the tisB/istR-1 region were performed. In the presence of DNA-damaging agents deletion strains were disadvantaged and were almost extinct by 4 days
Decreases cut8 localization to the nuclear envelope (PubMed:28974540). Increases kinetochore component protein levels, including cnp3 (PubMed:28974540). Asynchronous kinetochore segregation during metaphase, with lagging kinetochores present during anaphase B (PubMed:28974540). Increases spindle assembly checkpoint (SAC) activation and results in mitotic metaphase/anaphase transition delay (PubMed:28974540). Abnormal chromosome segregation; lagging mitotic chromosomes during anaphase B and unequal mitotic sister chromatid segregation (PubMed:28974540). Sensitive to thiabendazole (PubMed:28974540). Simultaneous disruption of spindle assembly checkpoint (SAC) proteins bub1 or mad2 results in a growth defect (PubMed:28974540)
Deletion mutant accumulates very little cellular polyP
RNAi-mediated knockdown causes mechanosensory defects and uncoordination in L1 and L2 larval stage animals; phenotypes become weaker in later stages and eventually disappear in young adults (PubMed:10993673). RNAi-mediated knockdown causes defects in vulval morphology and gonad arms (PubMed:12736204). RNAi-mediated knockdown reduces the level of bed-3 and col-124 mRNAs and increases the level of lin-29 mRNA (PubMed:32417234)
No obvious defects in morphology (PubMed:15215864). Plants lacking both XYP1 and XYP2 have morphological defects in vascular development; e.g. discontinuous and thicker veins with the improper interconnection of tracheary elements (TEs) (PubMed:15215864)
Altered pre-messenger RNA (pre-mRNA) splicing (PubMed:28971960). Delayed flowering under both long and short days, and slightly reduced responsiveness to gibberellin (GA) and vernalization treatment (PubMed:17380304, PubMed:28971960). Short stature and reduced seed set (PubMed:28971960). Reduced levels of FLC but increased levels of FT and SOC1 transcripts (PubMed:17380304)
Following epithelial wounding, no migration of macrophages to wound sites (PubMed:26028435). RNAi-mediated knockdown in glial cells potently suppresses glial phagocytic activity with drpr not recruited to severed maxillary palp axons, blockage of glial hypertrophy, blockage of drpr up-regulation after antennal ablation and reduced clearance of severed axons in the central nervous system (PubMed:18432193)
Embryo development arrested at the preglobular stage
Reduced growth and lower N content when cultivated on dipeptides. No effect on germination
Y-shaped metacarpals and defects in palate and tongue morphology characteristic for a PFD syndrome phenotype
Mutants grow photoautotrophically under low light conditions, with doubling times twice that of the wild type, but they are unable to grow under high light conditions. Mutants contain less photosystem I (PSI) than the wild-type cells, and membranes do not contain detectable levels of phylloquinone
During aerobic growth, mutant is impaired for ubiquinone biosynthesis and for growth in rich medium, but it does not present any defect under anaerobic conditions
Cells lacking this gene lose the ability to decarboxylate L-dopa, and display no growth defects compared with wild type
Heterozygous BMP2-knockout mice show abnormal numbers of rib pairs, a reduction in overall body length, and less bone mineral content and volume than wild-type mice. Homozygous BMP2-knockout mice die before embryonic day 12.5
Tissue-specific knockout of SIRT2 in Schwann cells of early postnatal mice leads to a transient delay in myelination, a reduction in the nerve conduction velocity and hyperacetylation of PARD3. The number of dividing Schwann cells in the developing nerve and alpha-tubulin acetylation are normal (PubMed:21949390). Mutant mice embryo grow normally and new born are healthy. Embryonic fibroblasts (MEFs) display reduced cell proliferation capacity, centrosome amplification and mitotic cell death. Nude mice inoculated with immortalized MEFs from mutant mice developed tumors. Adult mutant mice exhibit genomic instability and chromosomal aberrations, such as double-strand breaks (DSBs), with a gender-specific spectrum of tumorigenesis; females develop primarily mammary tumors and males develop tumors in several organs, including the liver, lung, pancreas, stomach, duodenum and prostate. Drastic increases of histone H4K16 acetylation and decreases of both histone methylation (H4K20me1) in metaphasic chromosomes and histone methylations (H4K20me2/3) in late M/early G1 but also throughout all phases of the cell cycle (PubMed:23468428)
Cells lacking this gene can grow in the absence of exogenous riboflavin; this may be due to the presence of the functionally redundant protein YbjI
Deficient mice are viable and fertile (PubMed:10212251). However, mice deficient in both LAMP1 and LAMP2 are embryonic lethal, with the accumulation of autophagic vacuoles in many tissues (PubMed:15121881). In addition, LAMP1 deletion results in increased NK-cell apoptosis upon target cell-induced degranulation (PubMed:23847195)
Knockdown with morpholino results in dramatically reduced parasite growth, accumulation of multinucleate cells, abnormal flagellar positioning, and polarity and cytokinesis defects. Overall cytoplasmic actin organization is disrupted with ectopic short actin filaments, however, nuclei are enlarged with actin filaments covering the width of the nuclei
Slightly reduced size of the plant. Atpgl1, atpgl2 and atpgl3 triple mutants produce smaller leaves and petioles
Strains lacking this gene show a reduction in growth stimulation by the iron-hydroxamate siderophores schizokinen and arthrobactin compared to wild-type. They also show a reduction in growth stimulation by the catecholate siderophores enterobactin and bacillibactin
The single ralR and double ralR-ralA mutant have increased sensitivity to the antibiotic fosfomycin
ATP9A knock down results in muscle weakness, memory impairment and hyperkinetic movement disorders. Abnormal neurite morphology and impaired synaptic transmission are found in the primary motor cortex and hippocampus of knocked-down mice
Retarded leaf senescence, but no effects on pathogen resistance (PubMed:17369373). Increased susceptibility to P.syringae associated with reduced PR1 induction; stronger symptoms in double mutants wrky46 wrky70 and wrky46 wrky53, and triple mutant wrky46 wrky70 wrky53. In these mutants, higher induction of PDF1.2 upon jasmonic acid (MeJA) treatment (PubMed:22325892)
Knockout mice are born at the expected Mendelian rate, but high lethality is observed within 48 hours from birth. Surviving mice are smaller than wild-type animals, have several neurological defects, impaired motor activity, and deficits of working memory. The cerebral cortex is thin and lateral ventricles are enlarged. The volume and proportion of myelinated axons is markedly reduced in both central and peripheral nervous system
Deficient mice are embryonically lethal, with death occurring on or before day 11 of the embryo development. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations and anemia
Exhibits a large proportion of multinucleate cells. Elongated buds. The percentage of elongated buds is significantly increased when GIN4 or CKI1 is also deleted. Small decrease in the percentage of cells with elongated buds is observed in NAP1 and CKA2 double mutant. NAP1 and CKI1 double mutant exhibits increased sensitivity to benomyl. Increased resistance to benomyl in NAP1 and CKA2 double mutant
Plants have enhanced susceptibility to virulent P.parasitica pathogen and reduced root hair length
No curli production
Cytotoxic activity of natural killer cells and CD8(+) T-cells are defective in knockout mice (PubMed:32839608, PubMed:33911019). Mice fail to resolve Leishmania donovani infection, which is accompanied by a sustained reduction in the production of pro-inflammatory cytokines and a defective CD4(+) T-cell response (PubMed:32839608). Mice infected with Plasmodium berghei ANKA show a significant reduction in the recruitment of parasite-specific cytotoxic CD8(+) T cells to the brain, along with lower levels of inflammation (PubMed:32839608). Mice injected intravenously with B16F10 and LWT1 melanoma cell lines show a significant increase in the number of lung metastases compared with wild-type mice and an vitro impairment of natural killer cells to lyse susceptible tumor cells (PubMed:32839608)
RNAi-mediated knockdown results in multinucleate, multiflagellate cells
No visible phenotype under normal growth conditions, but mutant plants exhibit increased susceptibility to infection with the bacterial pathogens Pseudomonas syringae pv maculicola strain ES4326 and pv tomato strain DC3000
Loss of streptomycin and spectinomycin resistance
Plants lacking APD1, APD2, APD3 and APD4 are defective for cell division in male gametogenesis resulting in severe abnormal bicellular-like pollen phenotypes
Decreased photoautotrophic growth. Decreased assembly of PSII monomers and dimers, increased levels of the CP43-less intermediate, plus an altered dimeric form. Double psbM-psbT mutants do not assemble PSII dimers. Cells are light sensitive and rapidly photoinactivated; recovery requires protein synthesis and light
No defects in lifespan or egg laying capacity (PubMed:14996832). Abolishes ctl-1 enzymatic activity and reduces the global levels of catalase activity to 75% of the total catalase activity observed in wild-type animals (PubMed:14996832)
No visible changes in phenotype, probably due to a complementation by FTSH2. The presence of both FTSH1 or FTSH5 (subunit type A) and FTSH2 or FTSH8 (subunit type B) is essential for an active complex formation
Cells lacking this gene are unable to grow on ectoine as carbon source
Reduces H3K9me3 levels to about 20-50% (Ref.2). Slightly though significantly affects fungal hyphal growth and stress response and impairs wild type-like conidiation (Ref.2). While it does not affect the biosynthesis of most known secondary metabolites, results in an almost complete loss of fusapyrone and deoxyfusapyrone (Ref.2)
Male-sterile plants characterized by small and white anthers lacking mature pollen grains. Defects in the biosynthesis of very-long-chain fatty acids (including polyesters) in cuticles and in the innermost layer of the anther wall (the tapetum). Lack of epicuticular wax crystals in the outer layer of the anther and severely retarded microspore development and finally disrupted as a result of defective pollen exine formation
No visible phenotype under normal growth conditions (PubMed:23621683). Mutant plants exhibit increased susceptibility to the rice blast fungus Magnaporthe grisea, and reduced capacity to inhibit germination and growth of lowland weeds in paddy soil, possibly due to decreased levels of momilactones and oryzalexin S (PubMed:23621683)
At 20 degrees Celsius, there is reduced axon regeneration following injury in D-type motor neurons in temperature-sensitive mutant embryos
No significant difference in lariciresinol content (PubMed:18347017). Prr1 and prr2 double mutants show a complete inhibition of lariciresinol biosynthesis (PubMed:18347017)
Disruption of the hypothalamic-pituitary axis in both genders, but female pubertal development is influenced by the presence or absence of male mice (PubMed:9090387, PubMed:17717072). Altered female sexual behavior and reproductive longevity, with fewer pregnancies over a shorter period, abnormal estrous cycles and reduced ovulation with aging (PubMed:15465527). Reduction in neuroendocrine gonadotropin releasing hormone-1 (GnRH-1) cell number and altered location of these cells, and morphological and functional abnormalities of the adenohypophysis (PubMed:17717072, PubMed:15470499). Ndn expression almost abolished at the level of the optic chiasma in the hypothalamus (PubMed:15470499). Hypothalamic Pcsk1 expression does not respond to signals of energy availability (PubMed:18356286). Progressive adult-onset obesity, preceded by reduced physical activity (PubMed:9090387, PubMed:12419415). Significant reduction in the innervation and vascularization of white adipose tissue and accumulation of preadipocyte/macrophage-like cells, prior to onset of obesity (PubMed:19436734). Defective torpor response and altered serum leptin levels, body temperature and adipose inflammation (PubMed:20808804). Conditional knockout in GnRH neurons but not in pro-opiomelanocortin (POMC) neurons reduces POMC neuron number and increases visceral fat mass (PubMed:23785158). Double knockout of Nhlh1 and Nhlh2 genes causes neonatal lethality, complete absence of GnRH-1 neurons in the posterior parts of the brain at 18.5 days post coitus (dpc) and aberrant morphology of the remaining GnRH-1 neurons in the anterior parts of the brain (PubMed:15470499). Double knockout of Nhlh1 and Nhlh2 genes causes absence of pontine nuclei, which belong to the precerebellar nuclei and are located either side of the midline of the ventral rhombencephalon (PubMed:17573818)
RNAi-mediated knockdown in distal tip cell (DTC) causes DTC migration and guidance defects during the second phase of gonad elongation resulting in a triangular shaped gonad (PubMed:19023419). Embryos at the comma and 1.5-fold stages have increased number of cell corpses (PubMed:20226672). RNAi-mediated knockdown causes an accumulation in the proximal gonad of endomitotic mature oocytes (PubMed:17326220). RNAi-mediated knockdown results in increased mobility of let-23 receptor on the plasma membrane of vulval cells resulting in enhanced activity of the signaling pathway (PubMed:28135265). RNAi-mediated knockdown in vulval precursor cells in a let-60 gain of function mutant background results in increased vulval induction and an adjacent primary fate (Apf) phenotype whereby secondary vulval precursor cells transform into primary-like vulval cells (PubMed:28135265). RNAi-mediated knockdown results in impaired mobility, mitochondrial fragmentation and disrupted integrin attachment complexes in muscle (PubMed:22253611). This leads to degradation of muscle proteins in the cytosol, myofibrillar defects and disruption of sarcomere organization (PubMed:22253611)
Impairs the ability to produce 1233A and its hydrolysis product 1233B
Exhibits growth arrest on glycerol medium
No visible phenotype and no effect on drought stress response, probably due to the redundancy with RMA1 and RMA3
Dwarf phenotype with smaller, wrinkled leaves and overall reduced vigor. Higher water loss rate and susceptibility to drought stress. Defective in the cuticular membrane. Strong resistance to virulent Botrytis cinerea and enhanced susceptibility to avirulent Pseudomonas syringae
Cells lacking this gene are markedly impaired (but not totally blocked) in growth on L-lactate minimal medium but not impaired in growth on glucose minimal medium
Plants show an increase in floral organ number, particularly in the sepals and petals, correlating with an increase in the width of young floral meristems (PubMed:10840062). Increased sensitivity to abscisic acid (ABA) as well as salt (NaCl) and osmotic (e.g. in response to mannitol and PEG) stresses in term of seed germination and roots elongation (PubMed:26147561)
Patterning defects characteristic of Hh signaling loss in embryos and imaginal disks
Originally identified in a genetic screen for genes required for hearing and balance. The mercury circler mutant phenotype is characterized by balance defects, an absence of the acoustic startle reflex, failure to inflate the swim bladder, lack of hair cell-dependent calcium responses in the hindbrain, and undetectable microphonic currents. No morphological defects in the sensory hair cell bundles nor epithelium
Mutant exhibits sensitivity to manganese but not to other cations. Under high-manganese conditions, the mutant accumulates high levels of intracellular manganese with a concomitant decrease in intracellular iron levels. Mutant also shows a small, but significant, increase in resistance to oxidative stress induced by hydrogen peroxide
Cells lacking this gene do not grow on standard rich medium; however, growth of these mutants is readily rescued by the addition of aminodeoxyfutalosine, but not futalosine
Does not affect growth and sporulation but abolishes HC-toxin production and pathogenicity
Knockouts show increased susceptibility to infection with E.faecalis but not with P.aeruginosa, increased levels of H(2)O(2) upon infection and a slightly shorter life span. Fertile animals show a bagging phenotype due to embryos being retained in the body and an increase of clec-60 mRNA levels upon infection. 50% of knockouts also have a dumpy phenotype. RNAi-mediated knockdown of the protein also results in higher susceptibility to infection by E.faecalis but not in a decreased life span or morphological changes
Flies exhibit failure of glia to differentiate in the CNS and in the PNS, glia are transformed into neurons. Ectopic expression causes neurons to transform to glia
Leads to defects in morphology and hyphal formation, impaired chlamydospore formation, reduced colonization of the kidneys in infected mice and suppressed virulence in the mouse model
Cannot grow on efflux substrates novobiocin or fusidic acid
Mutant is defective for assembly of the needle and secretion of the translocon proteins IpaB/SctE and IpaC/SctB (PubMed:12864857, PubMed:31978132). Amount of the needle filament protein MxiH/SctF is greatly reduced (PubMed:12864857). T3SS effector protein secretion is reduced in Shigella strains coexpressing wild-type and inactive Spa47/SctN (PubMed:31978132)
Deletion of the nikBCDE operon strongly reduces nickel transport and urease activity. Mutant shows decreased virulence in a mouse model of ascending UTI (PubMed:20662775). Insertion mutant shows attenuated growth in several infection models (PubMed:9791183)
No visible phenotype. Depending on the task, mutant mice show improved motor coordination, especially in avoiding hind limb slips when crossing a narrow beam and in climbing onto a horizontal hanging wire
Skeletal muscle regeneration appears to be less efficient and delayed (PubMed:11839816). Knockout mice are deficient to adapt heart rate to physiological stress, this deficiency develops in older mice. They show severe sinus node dysfunction with long pauses and intercurrent periods of normal synus rhythm. The sinus node structure is abnormal with a loss of pacemaker tissue from the inferior part of the sinus node and a compact structure of the superior sinus node (PubMed:22354168). They have inpaired functional recovery after ischemia/reperfusion injury (PubMed:24066022)
Insensitivity to ascaroside pheromones
Null cells have small aggregation territories and express early gene
Lack of this protein causes the peroxisomal-deficient phenotype and mislocalization in the cytosol of peroxisomal matrix proteins
Impairs the production of depudecin (PubMed:19737099). Leads to a small but statistically significant reduction of approximately 10% in lesion size on Brassica oleracea (green cabbage) leaves (PubMed:19737099)
Mutants display hepatomegaly associated with large, vesicle-filled hepatocytes. They also have defects in pigmentation with reduced numbers of melanophores and no iridophores
Impaired biosynthesis of dimethylnonatriene (DMNT), but abnormal accumulation of (E)-nerolidol (PubMed:27662898). Reduced levels of trimethyltridecatetraene (TMTT) (PubMed:27662898)
Flies are viable and fertile
Normal magnetic response, slightly smaller, irregularly spaced magnetosomes. Near wild-type localization of MamC (PubMed:24816605). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
No visible phenotype under normal growth conditions, but the double mutant seedlings gir1 and gir2 exhibit excessive root hair formation
Does not grow in low Mg(2+), uncontrolled growth in mouse NRK-49F fibroblasts
Growth-related phenotypes, such as formation of large roots, leaves and seeds, enlarged meristem size, and reduced fertility due to defect in male gametogenesis
Increased susceptibility to the oomycetes Phytophthora brassicae and Phytophthora capsici and to the bacteria Pseudomonas syringae, characterized by stronger necrotic symptoms
Mice die in utero between embryonic days 12.5 and 14.5 (PubMed:25313962, PubMed:29358667). Show multiple cardiac malformations, including defective endocardial cushion morphogenesis, ventricular septum defects, reduced trabeculation and compaction and dilated atria (PubMed:25313962, PubMed:29358667). Display loss of sarcomeres in cardiomyocytes (PubMed:25313962). Show aberrant pre-mRNA alternative splicing of key genes necessary for sarcomere formation and cardiogenesis (PubMed:25313962)
Single gene deletion has compact clusters of magnetosomes instead of magnetosome chains; precursor magnetosome vesicles and vesicles containing immature crystals are throughout the cytoplasm and no longer associated with filaments. Cells have substantially decreased magnetic orientation (PubMed:16299495, PubMed:17601786). No change in location of MamK (PubMed:17601786). Single deletion slows recovery of MamK dynamics following photobleaching (PubMed:27733152). Deletion of 3 consecutive genes (mamJ, mamK, mamL) leads to cells devoid of magnetosomes or a magnetic response (PubMed:22043287). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Mutant can produce serinol and dihydrorhizobitoxine, but not rhizobitoxine (PubMed:11679318, PubMed:14711685). Mutant produces no symptoms of foliar chlorosis on G. max cv. Lee and does not accumulate rhizobitoxine in the nodules or upper shoots (PubMed:14711685). It shows significantly less nodulation competitiveness than the wild-type strain on M. atropurpureum (PubMed:14711685)
7-38% increase in lifespan compared to wild-type animals. Increased nuclear accumulation of the transcription factor skn-1. Increased resistance to oxidative stress as indicated by an increase in the expression of genes related to the oxidative stress response and activation of the p38 MAPK pathway. Increased reactive oxygen species production. Knockout with bli-3 RNAi rescues the enhanced longevity and increased reactive oxygen species production defects. Knockout with rho-1 RNAi suppresses reactive oxygen species induction and longevity in the memo-1 mutant. Double RNAi mediated knockdown with bli-3 suppresses the nuclear localization of skn-1 in the memo-1 single mutant. Double RNAi-mediated knockdown with rho-1 eliminates the resistance to oxidative stress in the memo-1 single mutant
Beginning in the L3 stage, animals display striking and progressive defects in morphology of the epidermis and cuticle in several body regions, particularly in the nose, tail, vulva, and the dorsal midline in the region of the posterior pharyngeal bulb (PubMed:19164535, PubMed:27661253). The cuticle in these regions becomes up to 5-10 times thicker than the wild-type, at the expense of underlying epidermis (PubMed:19164535, PubMed:27661253). Up-regulates innate immune responses to damage (PubMed:19164535). Decreases starvation-induced autophagy (PubMed:17785524). Disorganization and hyper-stabilization of epidermal microtubules and reduced microtubule growth rates (PubMed:27661253). Treatment with a microtubule stabilizing drug, paclitaxel, results in enhanced epidermal morphology defects (PubMed:27661253). In a ptrn-1 mutant background, suppression of the epidermal morphology defects (PubMed:27661253)
Significantly increased levels of unsaturated fatty acids (UFA) (PubMed:11859088, PubMed:19854834). Double fadR-fabR deletions have increased levels of saturated fatty acids, suggesting a functional fadR gene is required for fabR function (PubMed:11859088). Increased transcription of fabA and fabB (PubMed:11859088, PubMed:21276098)
Pleiotropic phenotypes, such as reduced height, enlarged lamina joint angles, increased tiller number, decreased panicle length and reduced primary branches per panicle, due to hypersensitivity to brassinosteroid
Impaired basal thermotolerance
Most embryos display premature mitosis resulting in defective invagination of the mesoderm during gastrulation. A small percentage of embryos also display an extra nuclear division prior to cellularization
Reduced chloroplast biogenesis and chlorophyll synthesis associated with less POR protein accumulation. Photobleaching and growth inhibition of plants under light conditions. In dark-grown plants, reduced POR accumulation in etioplasts and impaired formation of prolamellar bodies, subsequently affecting chloroplast biogenesis upon illumination (PubMed:24151298). Embryo lethal with arrested embryogenesis at the globular stage (PubMed:24097264)
Dramatic increase in root nodule number when inoculated with Sinorhizobium medicae (PubMed:21742814, PubMed:28592666). Inhibition of root growth in both the presence and absence of rhizobia (PubMed:21742814, PubMed:28592666)
Deficient mice fed the standard laboratory rodent diet have peripheral blood counts that are all within the normal range, including the red cell indices. No differences between male and female animals. They show 15% increase in the size of the spleen in. Mutants have hemozoin beginning to accumulate in reticuloendothelial system macrophages 8 days after birth. They require more dietary iron to maintain erythropoiesis than littermate control animals
No visible phenotype, due to the redundancy with TAF14B (PubMed:21282526). Decreased FLC expression leading to earlier transition from vegetative to reproductive phase (Ref.7). Taf14 and taf14b double mutants show a pleiotropic phenotype that includes small size and abnormal leaf morphology (PubMed:21282526). Taf14 and taf14b double mutants flower significantly earlier than single mutants under both long days and short days conditions (Ref.7)
Disruption impairs growth under conditions of limited iron avaibility, but does not affect virulence in mice
Morpholino knockdown of the protein results in a biphasic developmental delay characterized by a reduced body size with 22-23 somites by 24 hpf; the first delay occurs before gastrulation and the second during late tail bud development
Essential, cannot be deleted
Able to grow under greenhouse conditions, increased sensitivity to high light. Able to assemble dimeric PSII and PSII-LHCII complexes, but they are not stable. Almost complete loss of phosphorylation of D1, D2 and CP43 (PsbA, PsbD and PsbC respectively), altered phosphorylation of LHCII
Homozygote mutants are non viable. Heterozygote mutants display affected pollen germination
No visible growth defect but increased cell walls thickness and higher lignin content
Animals develop significant and prolonged hepatosplenomegaly in response to bacterial lipopolysaccharide (LPS) challenge (PubMed:17322564). Both liver and spleen show increased accumulation of leukocytes (PubMed:17322564). Significantly reduced deacylation of LPS in liver and spleen, in peritoneal macrophages, and in bone marrow-derived dendritic cells (PubMed:12810692, PubMed:17322564, PubMed:18779055). Increased lung injury, delayed neutrophil clearance, and prolonged recovery time in response to intranasal LPS administration (PubMed:28622363). Alveolar macrophages show persistent activation and cytokine levels in lung remain elevated 4-7 days after LPS administration (PubMed:28622363). Impaired response to a second infection challenge, with reduced production of the pro-inflammatory chemokines CCL5/RANTES, TNF and IL6 by peritoneal macrophages and reduced survival rates, indicating a prolonged state of immune tolerance (PubMed:18779055). This immune tolerant state can perisist for two months or longer (PubMed:18779055)
Mice are viable but display subfertility caused by altered gamete formation (PubMed:26850882). The timing of meiotic entry and the subsequent gonad development is more severely impaired in female than in male mice (PubMed:26850882). Increased perinatal lethality is also increased in the offspring of knockout females (PubMed:26850882)
Mice show numerous defects in embryonic development, starting at E8.5
No visible growth phenotype at 15 degrees Celsius
Mice are viable and fertile, the formation and organization of all nuclei and layers throughout the brains are apparently normal. They are however slow to learn to stay on the rotating rod in the rotorod test during repeated trials, and display dysfunction of equilibrium and vestibular senses in the wire hang and horizontal rod-walking tests
No visible phenotype; due to the redundancy with RLK5/HAE. Hae and hsl2 double mutants have a strong abscission defect
No visible phenotype under usual housing conditions. When challenged with intratracheal instillation of B.anthracis lethal toxin (LT), mutant animals are protected from lung damages caused by sustained inflammation. Macrophages isolated from mutant animals are resistant LT
Mutants die of hypoglycemia at 7-10h after bith. They have defects in the control of hepatic growth and lung development. The liver architecture is disturbed with acinar formation. They show hyperproliferation of type II pneumocytes and disturbed alveolar architecture. At the molecular level, accumulation of glycogen and lipids in the liver and adipose tissues is impaired, and the mutant animals are severely hypoglycemic (PubMed:8798745). In very few cases (less than 1%) mutants are able to survive up to 4 weeks but they are sevrely retarded in development. At 2 weeks, they are about half the size of their littermates, very thin and with skin problems. Conditional knockout in adults leads to a lack of granulopoiesis in all hematopoietic organs with no mature peripheral blood granulocytes and the presence of >30% immature myeloid cells in the bone marrow, but without anemia or thrombocytopenia. Animals rarely survive 4 to 5 weeks of age due to sepsis as a result of granulocytopenia (PubMed:15589173). Double knockout CEBPA and CEBPB results in embryonic developmental arrest and death at around 10 dpc to 11 dpc, associated with a gross placenta failure (PubMed:15509779)
Abolishes the production of iso-A82775C, but accumulates siccayne as well as chloropestolides H to K
Grows very slowly with sulfate, butanesulfonate or cystine as sole sulfur source
Morpholino knockdown of the protein causes abnormal embryonic development (PubMed:17567667). At 5 dpf, morphants exhibit delayed food transit along the gut and depletion of enteric neurons (PubMed:25575569)
Production of viable embryos and predominantly normal oocytes with a low percentage showing misorganization. Does not affect germline development in adult hermaphrodites. Impaired repression of glp-1 and fog-1. Simultaneous knockdown of puf-5, puf-6 and puf-7 results in abnormally small oocytes, disorganization of oocyte nuclei and cells, inefficient yolk uptake by oocytes, embryonic arrest with impaired eggshell formation and cytokinesis defects, impaired repression of glp-1 in late oogenesis, and mislocalization of rme-2 to the cytoplasm instead of the plasma membrane
Shortens transitional period (when fingers and migrating slugs assess their environment to determine the appropriateness of that environment for culmination and fruiting body formation) of 1 to 2 hours and rarely forms slugs under standard conditions of development. Gives a slightly enhanced growth rate in axenic cultures
Abolishes recruitment of the mediator complex to the upstream activating sequence (UAS) of amino-acid starvation responsive genes (PubMed:19940160). Decreases RNA level of genes involved in amino acid biosynthesis and cofactor biosynthesis during amino acid starvation or methyl methanesulfonate stress (PubMed:11390663, PubMed:8336737, PubMed:29628310). Growth dependent on amino acid supplementation (PubMed:10733573). Sensitive to amino acid starvation (PubMed:10549298). Sensitive to purine starvation (PubMed:8336737). Decreases cellular glycogen levels during glucose starvation (PubMed:10733573)
Mutants reach adulthood and show no overt morphological defects but their hemocytes display a more vacuolated morphology than controls with enlarged endolysosomes which accumulate undigested phagocytic material due to impaired digestion. This leads to decreased resistance to bacterial infection and severely reduced lifespan
No phenotype detected and so may be dispensable (PubMed:14573471). RNAi-mediated knockdown causes intestinal expression of heme transporter hrg-1 induced by heme to be reduced drastically in L3 stage larvae (PubMed:20938051). Reduces expression of the daf-16 isoforms d and f (PubMed:24834345)
No change in extracellular putrescine levels
Leads to sensitivity to H(2)O(2) in vitro, but only mildly attenuated virulence
Knockout mice have an impaired herpes simplex virus type 1 (HSV-1)-triggered antiviral responses and become highly susceptible to lethal HSV-1 infection
High-chlorophyll-fluorescence phenotype
When the bcsEFG operon is disrupted in a cellulose-synthesizing strain (a strain K12 / W3110 derivative called AR3110 with a restored, functional bcsQ gene), cellulose is no longer made
Moderate IRX phenotype. Slight reduction of secondary wall thickness and xylan content in cell wall (PubMed:15980264, PubMed:18980662). Specific loss of the GlcUA side chain in xylans. Slightly short inflorescence and reduced fertility (PubMed:18980649)
YhhQ-queD double mutant cannot produce Q modified tRNA in minimal media with preQ(0) or preQ(1). YhhQ expressed from a plasmid restores the presence of Q modified tRNA
RNAi-mediated knockdown in embryos is lethal at 24 hr, likely due to defective cellularization (PubMed:33835025). During cellularization, the F-actin network at the base of the furrow canal is unorganized, the furrow tips contain wavy edges and there is a loss of contact between adjacent furrow tips (PubMed:33835025). Actomyosin ring constriction is enhanced, and the nuclei have a bottleneck appearance likely due to premature constriction at the furrow canal tip during the mid cellularization stage (PubMed:33835025). Another study reports that flies are viable and fertile (PubMed:28993397). RNAi-mediated knockdown in the alpha/beta neurons of the adult mushroom body (MB), results in abnormal crossing of the MB beta lobe over the brain midline (PubMed:33892766)
Embryonic lethality when homozygous (PubMed:26941195). Defects in pollen tube growth (PubMed:26941195)
Mutant mice are born at the expected Mendelian rate and appear healthy and normal, but display strongly reduced urine osmolality. Besides, their erythrocytes show reduced water permeability. Mice lacking both Aqp1 and Slc14a1 are born at the expected Mendelian ratio, but do not thrive; half of them die within ten days after birth and none are alive after two weeks. Urine osmolality is somewhat lower than that observed with mice lacking only Aqp1. Besides, erythrocyte water permeability is significantly lower than in mice lacking only Aqp1
Disruption results in increased sensitivity to heat shock. Loss of SigI results in a coordinated decrease in expression of all three toxin subunits
Suppresses slow growth rates of spores and severe nuclear envelope (NE) morphology defects of vps4 mutants
No visible phenotype, but increased sensitivity to exogenous abscisic acid and osmotic stresses. Increased drought tolerance
Egg chambers for females lacking spn-E display startmispositioned oocytes. At a low frequency, females generate early egg chambers in which the oocyte is positioned incorrectly within the cyst. At a high frequency, late-stage egg chambers exhibit a ventralized chorion. Flies show transposable elements derepression, an aberrant piRNA profile and a reduction of H3 'Lys-9' methylation and delocalization of HP1 and HP2
Very sensitive to pH 3.0 when grown on glucose; tolerance increases 10,000-fold in a pgi disruption
Male sterility of pollen grains due to impaired synthesis and utilization of starch in pollen grains
Cells lacking this gene display an attenuated disease phenotype with reduced colony-forming units in comparison to the wild-type. This mutant is unable to metabolize cholesterol to androst-4-ene-3,17-dione (AD) and androsta-1,4-diene-3,17-dione (ADD)
Lethality. In the presence of 1% protein cells grow extremely slowly and are blocked at the predivisional two-cell stage of the cell cycle. In the absence of Era and Rnc there is an additional defect in chromosome partitioning. In depletion experiments cells grow normally for 2 hours when protein levels fall. After 4 hours 16S rRNA levels decrease with a concomitant rise in the 17S precursor rRNA molecule (extra sequences at both the 5' and 3' end compared to mature 16S rRNA) and a loss of 70S ribosome assembly
Cells preferentially form spores within chimeric cell populations and are more likely to survive adverse conditions than their wild type counterparts, which accumulate preferentially within the stalk. Such mutants have been termed 'cheaters'. Over time, mutant cheaters may be expected to dominate mixed populations, as they ensure their own survival at the expense of their altruistic wild type counterparts. The spread of cheater mutants may be limited by the high degree of relatedness within naturally occurring populations of Dictyostelium discoideum. Altruistic behavior may be preserved from the damaging effects of mutant cheaters by the formation of clonal fruiting bodies, in which all cells exhibit cooperative behavior
Triple-deficient mice (H1-2, H1-3 and H1-4) die by midgestation with a broad range of defects. These embryos have about 50% of the normal ratio of H1 to nucleosomes. This proves at least that a correct stoichiometry of linker histone deposition on chromatin is essential
In larvae, basal epidermal cells migrate to ectopic places and hyper-proliferate
Severe growth retardation and premature death (PubMed:11923874). Mice gain weight slowly, appear malnourished and exhibit progressive hair loss (PubMed:12235369). Mice suffer from dilated cardiomyopathy, muscular dystrophy and lipodystrophy due to defects in lamin A/LMNA maturation (PubMed:11923874). Mice also show spontaneous bone fractures and muscle weakness due to defects in lamin A/LMNA maturation (PubMed:12235369). Mutant mice show increased viral protein expression, enhanced viral reporter activity, and higher titers of infectious viral particles (PubMed:28246125)
Reduced methionine-derived aliphatic glucosinolate accumulation, but increased levels of free methionine and S-methylmethionine
Little effect on the percentage of cells with partition defects and no change in sporulation frequency. However, yopP disruption strongly increases the extent of the partitioning defects seen in codV mutant strains (by about two-fold) and, to a lesser extent, those seen in ripX and dif mutant strains
Deletion of the pasT-pasI operon yields a defective infection of mouse kidney but not bladder. On rich medium operon deletion decreases bacterial persistence after antibiotic exposure about 100-fold. Forms small colonies on rich medium. Delays growth on minimal medium supplemented with threonine, increased sensitivity to oxidative and nitrosative stress. Growth defects are complemented by low levels of PasT expression
Inhibition of the main root elongation when grown in presence of ammonium chloride. Reduced plant height, biomass and panicle number
Disruption in the biosynthesis of ER-derived thylakoid lipids, and accumulation of oligogalactolipids, triacylglycerols (TAGs), and phosphatidates (PAs). Accumulates Gal(beta 1,6)betaGalDG, an unusual form of digalactosyldiacylglycerol (PubMed:23463370). Growth retardation, early bolting and no viable seeds produced (PubMed:20132520)
Mutant lacking this gene is unable to produce ornithine lipids
In plants silenced with microRNAs, functional LHCII thylakoid protein complexes where LHCB2 is replaced by LHCB1. However these LHCII complexes are impaired in light state transitions, leading to stunted growth in high light (PubMed:25194026). Reduced reactive oxygen species (ROS) production in leaves and impaired stomatal closure in response to abscisic acid (ABA). Increased water loss and reduced resistance to drought, probably due to open stomata. Altered expression of other LHCB members (PubMed:22143917)
Mutants almost completely lack tyramine, have fewer eggs in the uterus and are hyperactive in egg laying in the presence of food with most eggs being laid at the 1-8 cell stage. They also have a reduced backing response, show more spontaneous reversals and fail to suppress head oscillations upon anterior touch
Mutants have a reduced pyruvate oxidase activity and a reduced growth rate, and are highly attenuated for virulence in mouse models of infection. Salmonella epmA and epmB mutants share extensive phenotypic pleiotropy, including an increased ability to respire under nutrient-limiting conditions, hypersusceptibility to a variety of diverse growth inhibitors, and altered expression of multiple proteins, including several encoded on the SPI-1 pathogenicity island
Mutant mice exhibit increased inflammatory cytokine production and recruit more inflammatory cells to the peritoneum, when challenged with different pathogen-associated molecular patterns (PAMPs), including LPS
Mice exhibit normal T-cell, B-cell and mast cell development and normal humoral response, but have hyperresponsive mast cells
The mice are viable and appear to be of normal size, behavior and reproductive ability. There is no effect on the ability to combat vaginal viral infection, but antiviral response evoked by Toll-like reseptor (TLR) stimulation is reduced. Mice also display enhanced rotavirus susceptibility associated with epithelial vacuolization, villus deformation and epithelial cell disruption
Growth auxotrophic for thiamine; growth partially restored by hydroxymethylpyrimidine (HMP)
Reduced greening during deetiolation in continuous high light, with a reduced ratio between chlorophylls a and especially at the highest irradiances. Slight reduction in the rate of chlorophyll accumulation during greening at moderate light intensities, and lower zeaxanthin accumulation in high light conditions. Normal sensitivity to photoinhibition and photooxidation. Impaired seed germination, especially at hot temperatures (30 degrees Celsius)
Deletion mutant is unable to synthesize ubiquinone under strict anaerobic conditions. Mutant shows normal levels of ubiquinone after aerobic growth
Dwarf, narrow leaf, lesion mimic, low tillering, late heading and low fertility phenotypes
Deletion of the gene abolishes high-affinity lysine uptake without affecting growth on free amino acids
Leads to a significant reduction in virulence on soybean seedling and increases the concentrations of both free salicylate and its glucoside (SAG) by about 3-fold in soybean seedling
Arrested in competence development and sporulation
Deficient mice display an highly penetrant perinatal lethality in a mixed genetic background and a fully penetrant lethality in a pure C57BL/6 background (PubMed:21636789). Mutants also show enhanced clinical symptoms correlated with depletion of naive effector T-cells, exhaustion of lymphocytes and enhanced prevalence of follicular T-helper cells (PubMed:30890743). In addition, mice show significantly reduced H3N2 or H5N1 influenza viral loads, inflammatory cytokine response and reduced pathogenicity compared to WT (PubMed:32231671)
RNAi-mediated knockdown in adult octopaminergic neurons, disrupts TfAP-2 expression resulting in behavioral abnormalities such as increased male aggression, reduced walking pace and overeating (PubMed:24142897, PubMed:25187989). Males display an increase in low-intensity fighting, with males performing more wing flicks and shoves during a 20 min fighting bout (PubMed:24142897). Males also display increased courtship behaviors, such as singing, circling and abdomen bends, towards males and virgin females (PubMed:24142897). Adults also eat significantly more over a 24 hr period and some overeat after starvation (PubMed:25187989). Inhibits expression of TfAP-2 in adults fed a normal diet, and inhibits the up-regulation of TfAP-2 in adults fed a low calorie diet or undergoing starvation (PubMed:25187989). Adults display decreased expression of the octopamine synthesis genes Tbh and Vmat, and the octopmaine signaling gene Dsk (PubMed:24142897). RNAi-mediated knockdown in class I, II, III, and IV md neurons, results in hypersensitive nociception behaviors, with larvae displaying reduced nocifensive escape locomotion (NEL) response latency to a 42 degrees Celsius heat probe (PubMed:30231996)
Increased leaf erectness, asymmetric growth and development of lamina joint
No visible phenotype. Apy6 and dapy7 double mutant exhibits late anther dehiscence and low male fertility. Pollen grains of double mutant are largely deformed in shape and in most cases, the cell walls of the pollen grains are interconnected
Deletion mutant is devoid of beta-N-acetylglucosaminidase activity and shows increased antibiotic and lysozyme resistance. Mutant is unable to grow on soluble peptidoglycan as a sole carbon source
Flies exhibit partial transformation of antenna toward leg identity and small rough eyes. Ectopic expression causes partial transformation of distal leg structures toward antennal identity and antennal precursors into eye tissue
Defects cause isoniazid (INH) resistance
Increased antibiotic susceptibility, altered colony morphology and increased aggregation, increased uptake of the Congo Red stain and increased sensitivity to SDS. Decreased gliding motility and biofilm formation. Cells are very long, sometimes branched and often polyploid. Decreased phosphorylation of MtrA, increased expression of dnaA in early growth stages
Nuclei in larval muscles (myonuclear), are mislocalized and often clustered, likely due to mislocalization of the LINC complex, demonstrated by the aberrant localization of the complex member Msp300
In combination with a disruption of MCX1, abrogates mitochondrial respiration
No visible phenotype. Displays smaller nematode-induced syncytia. Ugd2 and ugd3 double mutant displays a strong dwarf phenotype and often develops seedlings with severe root defects; cell walls have an altered sugar composition (PubMed:21949134). Ugd2 and ugd3 double mutant displays abnormal nematode-induced syncytia (PubMed:22848518)
Homozygous knockout mice show impairments in motor coordination, long-term depression/LTD and development of Purkinje cells (PubMed:32033984). The level of phosphatidic acid in synaptosomal membranes is significantly decreased (PubMed:32033984). The number of branches, the total length of the dendrites and the membrane capacitance of the distal dendritic region are significantly lower (PubMed:32033984)
Embryonic lethal between 10.5 and 11.5 dpc. Severe dysfunction of the mitochondrial respiratory chain because of severely impaired mitochondrial protein synthesis
Disruption of this gene suppresses the esterified palmitate chain (16:0) in the lipid A and compromises the ability to persist in a mouse after 7 days. However, the mutant is no different from wild-type in its ability to colonize and persist within the respiratory tract during the early part of the infection
Ultrastructure of the retina is normal (PubMed:30936473, PubMed:30240620, PubMed:26392540). Newborn mice show normal hyaloid vessel numbers and normal vessel cellularity (PubMed:30936473). Retinas show normal expression patterns of rod and cone opsins including Opn4 (PubMed:26392540, PubMed:30240620). Decreased activated Vegfr2 in the hyaloid vessels and increased activated Akt1 at P5 (PubMed:30936473). Reduced levels of dopamine in the retina, however increased levels in the vitreous at P6 (PubMed:30936473). Reduced number of hyaloid blood vessels due to precocious regression, however no change in abundance of Vegfa or Flt1 at P8 (PubMed:30936473). Expression of tyrosine hydroxylase Th in retinal cell processes at P8, with increased expression in developed dopaminergic amacrine cells at P15 (PubMed:30936473). Loss of retinal and corneal circadian rhythm photoentrainment (PubMed:26392540, PubMed:30240620). Reduced UVA-induced phase-shift response and Fos expression in the suprachiasmatic nuclei (SCN) in the brain (PubMed:30240620). Abolishes retinaldehyde-dependent photoentrainment in the dermal tissues of the outer ear and vibrissal pad (PubMed:31607531). Loss of phase shifting activity in response to violet light and expression of circadian clock-genes in the skin of the outer ear during light-to-dark cycle, including Per1, Per2, Cry2, Dbp and Nr1d2 (PubMed:31607531). Pde6b and Opn5 double knockout mice also show loss of retinal ultrastructures and a more severe reduction in the rate of circadian photoentrainment, light-induced phase-shift response and Fos expression in the SCN (PubMed:30240620)
Complete loss of beaded filament structures in lens epithelial cells
Homozygous mutant flies show dorsal-ventral defects in egg (shorter egg length and fused appendages) and embryo patterning. Fail to hatch and show severe glial cell differentiation defects: disruption of intimate glial-glial cell contact and absence of glial cell processes enwrapping neuronal cell bodies and axones, resulting in loss of the blood-brain barrier (BBB) formation. Heterozygous flies show an enhanced stress resistance, fat content and extended lifespan
Embryonic lethal by 11.5 dpc (PubMed:25790465). At 10.5 dpc most tissues are substantially reduced in size, specifically neural and heart structures are developmentally less advanced and/or abnormal (PubMed:25790465). At 10.5 dpc hyperactive MAPK and AKT signaling has been observed (PubMed:25790465). Heart-specific knockout mice exhibit a reduction in body size and die shortly after birth due to heart abnormalities (PubMed:36377660). During transthoracic echocardiography, reduction in both ejection fraction (EF) and fractional shortening (FS) (PubMed:36377660). Systolic dysfunction with severely impaired contraction of the left ventricle (PubMed:36377660). Increase in nuclear envelope deformations, DNA damage, and cellular apoptosis in the heart under mechanical stress (PubMed:36377660)
Appears essential for growth, since no null mutants can be obtained. Conditional depletion of this gene leads to enlarged cells, which display highly condensed nucleoids. The TsaB depletion phenotype is suppressed by overexpressing the response regulator RstA
Mutant mice are viable and fertile
Mutants exhibit an attenuated virulence in the rabbit ligated ileal loop model
Mutant shows strongly decreased glycine betaine uptake
The double mutant ubp12 ubp13 roots are completely insensitive to exogenous applied hormone peptide RGF1 associated with an accelerated RGF1-induced ubiquitination and turnover of RGFR1 and are characterized by a reduced number of cortical meristem cells and disturbed PLT1 and PLT2 expression
Both female and male gametocytes appear normal and fertilization proceeds normally (PubMed:35947628). Meiosis is normal (PubMed:35947628). However, ookinete maturation is delayed (PubMed:35947628). In A.stephensi mosquito fed on mice infected with knockout parasites, the number of oocysts in the mosquito midgut is reduced (PubMed:35947628)
Decreased pollen fertility due to abnormal synaptic behaviors and increased crossover formation during prophase I
No visible phenotype under normal growth conditions, but mutant plants are hypersensitive to aluminum
Loss of phenanthroline induction of katG
Cold sensitive. Double cshB-nfo mutants are as cold-sensitive as the single cshB mutant
Homozygous knockout mice lacking Dgki do not display overt phenotype (PubMed:15894621). They are slower to habituation to a novel environment, but have normal levels of locomotor activity, anxiety, and motor coordination (PubMed:21119615). They display a small increase in presynaptic release probability and synapses show a reduction in metabotropic glutamate receptor-dependent long-term depression (PubMed:21119615)
Display curved body axis, short somite length and defective heart-looping orientation
Deletion of the gene results in decreased expression of genes activated by ComA, including rapA and the srfA operon (PubMed:15968044, PubMed:16816200). It significantly changes the expression of 72 operons (PubMed:16816200)
Partially reduces sensitivity to the toxic niacin analog 6-amino-nicotinamide
High chlorophyll fluorescence phenotype (hcf) and severe lesions in thylakoid membrane complexes, predominantly in photosystem II
Cells lacking this gene have an 80-fold increased spontaneous mutation frequency. A double mutS/mutL and a triple mutS/mutL/nth disruption has a 200 to 280-fold increased spontaneous mutation frequency
Cells lacking this gene have increased lysozyme sensitivity (PubMed:21768286, PubMed:25157076). The growth is inhibited by 100 ug/ml hen egg white lysozyme in broth culture and the optical density of the culture is decreased, indicative of bacteriolysis. Bacterial colony-forming unit (CFU) is decreased by 2 logs in the liver and spleen of the intravenously Listeria-infected mouse. Mutant bacterial cells have intracellular growth defects in the bone marrow derived macrophages (BMMs) of the infected mouse, and increased vacuolar and cytosolic expression of cytokines interleukin 12 (IL-12), IL-1 beta and IFN-beta by the BMMs. Mutant cells undergo increased bacteriolysis in the cytosol of the BMMs leading to IL-1 beta secretion and AIM2 inflammasome-dependent pyroptosis of the infected host macrophages via the PYCARD (ASC)-dependent pathway. Double pgdA/oatA deletion mutants are more lysozyme sensitive than the single deletion mutant of this gene. Both the single and double mutant phenotypes can be rescued by lysozyme-deficient macrophages. The addition of extracellular lysozyme to the lysozyme-deficient macrophages infected by the mutants restores normal function of the BMMs (PubMed:21768286). Exhibits attenuated virulence in mice. Killed within 30 min of intravenous infection in the blood of infected mice. Is as resistant as wild-type bacteria to beta-lactam antibiotics cefuroxime and penicillin G, and to and cathelin-related antimicrobial peptide (CAMP) treatment. Not killed by antimicrobial cationic peptides (PubMed:25157076)
Deletion of capV suppresses cGAMP-dependent growth phenotypes resulting from overexpression of dncV
Male mice are infertile due to impaired spermatogenesis (PubMed:33144677). Sperms are immotile and show an abnormal head shape and short flagellum, and are often accompanied by an abnormal manchette structure (PubMed:33144677)
Mice are extremely sensitive to cholesterol intake. LDLR are expressed at normal levels, but are sequestered at the hepatocyte surface. LDL internalization defect is caused by the inability of the LDLR to enter the endocytic cycle
Knockout mice suffer from bleeding disorders and thrombocytopenia due to deficient ASGPR-mediated clearance of plasma VWF/von Willebrand factor
Prolonged exposure to attractive odorant benzaldehyde results in a loss of adaptive response characterized by a decrease in odor seeking behavior and in a loss of egl-4 nuclear translocation. Loss of chemotaxis response to the repellent odor 2-nonanone (PubMed:23954825). Increased egg laying; eggs are prematurely laid at one-cell to 8-cell stage (PubMed:8548815). Increased locomotion (PubMed:8548815). Increases diacylglycerol (DAG) levels along axons. Increases paralysis following treatment with acetylcholinesterase inhibitor aldicarb which is partially reduced in a drn-1 mutant background (PubMed:22897658). In a mutant background which expresses gar-2 in all cholinergic motor neurons, eliminates the resistance to Aldicarb that is characteristic of the gar-2 single mutant (PubMed:18614679). Simultaneous RNAi-mediated knockdown of both goa-1 and gpa-16 causes, in the one-cell embryo, a lack of nuclear rocking movements from prophase to metaphase and symmetric spindle elongation without transversal oscillations of the poles during anaphase (PubMed:14534135). At the 2-cell stage embryo, nuclei are mispositioned and fail to exhibit nuclear rotation (PubMed:14534135). In addition, causes a loss of gpr-1/2 cortical localization in 2-cell and 4-cell stage embryos (PubMed:14534135)
Leads to unstable anthrone production and abolishes the production of endocrocin (PubMed:22492455)
RNAi-mediated knockdown in larvae results in defective heme accumulation in the intestine under low heme conditions (PubMed:28581477). Double RNAi-mediated knockdown with hrg-4 or mrp-5 in larvae results in defective heme sensing (PubMed:28581477)
Homozygous knockout flies show defective wing morphology. Mutant embryos show guidance phenotypes in ventral oblique muscle 5 (VO5), ventral oblique muscle 6 (VO6) and ventral acute muscle 3 (VA3). The affected muscles bypass their normal ventral attachment sites and mistarget toward or crossing the ventral midline. Mutant embryos exhibit additional muscle phenotypes, such as increase in lateral transverse (LT) muscles and VA3 numbers and defective lateral oblique muscle 1 (LO1) and ventral oblique muscle 1 (VO1) shape
Severe depletion of GatD/MurT produces a high proportion of aberrant cells, elongated or bulging
Mice develop normally and no overt phenotype is observed in hematopoietic cell population (PubMed:15665823). However, the induction of pro-inflammatory cytokines, such as interleukin-6 (IL6) and IL12 by various TLR ligands is impaired, whereas interferon-alpha induction is normal (PubMed:15665823)
Cells lacking this gene grow similarly to the wild-type on D-Arg or D-Lys as sole nitrogen source, but are unable to grow on D-Arg as sole carbon source
Leads to the production of UA derivatives that lack the alpha-hydroxyl group
Deletion abolishes swarming
Mutants display defective invasion and reduced survival in brain endothelia
Ethanolamine ammonia-lyase (eutB-eutC) is no longer reactivated
Increased hypocotyl growth inhibition and cotyledon unfolding responses in the very low fluence response (VLFR) mode. Reduced phototropic response. Reduced hyponasty when grown under blue light. No effect on negative root phototropism. Auxin accumulation in protoplasts
Cells lacking this gene does not cause a growth defect in rich or minimal medium. However, when grown in minimal medium with added glycine, the mutant accumulates 5-CHO-THF. If the only nitrogen source in minimal medium is glycine, the mutant shows a severe growth defect, likely due to inhibition of serine hydroxymethyltransferase (SHMT) and the glycine cleavage system by the accumulated 5-CHO-THF. This phenotype can be complemented by the glutamate formiminotransferase (FT)
Results in complete loss of glucosylceramides (GluCers) in mutant cells (PubMed:11443131). Has a decreased hyphal growth rate and increased susceptibility to SDS and fluconazole, suggesting defects in the cell membrane structure (PubMed:20019081). Shows increased resistance to plant defensin RsAFP2, and to heliomicin, a defensin-like peptide from the insect Heliothis virescens (PubMed:14604982)
RNAi-mediated knockdown causes multiple defects, including large vulval protrusions in hermaphrodites, premature differentiation of germ cells as sperm, and embryonic arrest around the onset of morphogenesis (PubMed:10884418). RNAi-mediated knockdown causes a partial decrease in apoptosis in germ line cells, in the F1 generation, induced by gamma-irradiation (PubMed:17317671). RNAi-mediated knockdown, during treatment by gamma-irradiation, reduces the expression of the p53 target genes, ced-13 and egl-1 (PubMed:17317671)
Arrest of embryo development at an early stage of zygotic embryogenesis
Stunted, pale yellow and infertile plants, which accumulate oligogalactoglycerolipids and phosphatidates
Essential, it cannot be deleted when the 17-gene operon is otherwise intact, possibly due to polar effects on downstream genes (PubMed:7868611). Not required for cobalamin-dependent degradation of ethanolamine (EA) when polar effects are removed. A double eutD-eutM deletion is also not required for growth in the above conditions (PubMed:10464203). A double eutM-eutN strain grows as well as wild-type on EA and cyanocobalamin, but a quadruple eutL-eutK eutM-eutN strain does not grow (PubMed:16291677). A non-polar deletion mutant grows on EA at pH 5.5 to pH 7.0 but not at pH 8.0 or pH 8.5, releases increased amounts of acetaldehyde on EA plus vitamin B12. Preventing acetaldehyde vapor loss allows growth up to pH 8.5 (PubMed:16585748)
Male sterility due to pollen germination defect
Mice are more vulnerable to DNA virus infection due to impaired immune response
Cells lacking this gene lack pyridoxine kinase activity but still contain pyridoxal kinase activity (PubMed:8764513). Cells lacking this gene and cells lacking both pdxY and pdxK are not auxotrophs, meaning that the de novo pathway of PLP biosynthesis is functional. For PLP salvage, the pdxY single mutant can use both pyridoxine and pyridoxal, the pdxK single mutant can use pyridoxal but not pyridoxine, and the double mutant can no longer use both compounds (PubMed:9537380)
Strongly sensitive to UV, ciprofloxacin (CFX), and azidothymidine (AZT) in single deletion mutants, radA-uvrD double deletions are more sensitive yet. Adding recF mutations almost completely suppresses AZT and partially suppresses UV and CFX sensitivity, suggesting RadA processes a class of intermediates that accumulate in uvrD mutants (PubMed:25484163)
Deletion of the gene results in dispersed T4P localization (PubMed:36284096). It also results in diffuse, cytoplasmic localization of PilG and FimL (PubMed:36284096)
Exhibits almost 50% reduction in intracellular trehalose concentration
No visible phenotype under normal growth conditions, but mutant plants are compromised in benzothiadiazole-induced resistance to the rice blast fungus Magnaporthe oryzae (PubMed:17601827). Enhanced resistance to the bacterial blight Xanthomonas oryzae pv oryzae (Xoo) and the bacterial streak Xanthomonas oryzae pv oryzicola (Xoc) (PubMed:19700558). Enhanced resistance to bacterial pathogens is associated with increased accumulation of salicylic acid (SA) and jasmonate (JA) (PubMed:19700558)
Severe growth defect at 26 and 30 degrees Celsius, with poor growth at 37 and 42 degrees; has decreased amounts of 70S ribosomes and polysomes and increased amounts of 30S and 50S subunits (PubMed:7535280). Results in a constitutive induction of the cold-shock response; increased cold-shock and ribosomal protein synthesis continues in the presence of general translation inhibition (PubMed:8898389). Less efficient processing of 5' end of 16S rRNA, increased levels of precursor 17S rRNA; effect is more pronounced in cold-shocked cells (PubMed:9422595, PubMed:12963368). Both phenotypes are partially suppressed by overexpression of Era and completely suppressed by overexpression of Era-delta 'Ala-40-Gly-49' mutation (PubMed:12753192). Double rbfA-rsgA deletion mutants have the same phenotype as single mutants (PubMed:21102555)
Short pollen tube growth and failure to exit the style
RNAi-mediated knockdown has no effect on the number of mitochondrial clumps and mitochondrial membrane potential in the indirect flight muscles, and there is also no effect on climbing performance. However RNAi-mediated knockdown rescues the defective mitophagy phenotypes caused by mutations in park; reducing the number of mitochondrial clumps, and improving mitochondrial membrane potential and climbing performance in park-deficient flies
Cells lacking this gene still produce L-propargylglycine but not L-beta-ethynylserine, that are terminal alkyne-containing amino acids produced by wild-type S.cattleya
Leads to the loss of ergot sclerotia pigmentation via blocking the production of red pigments endocrocin and clavorubin, and of the yellow secalonic acids (PubMed:28955461). Does not affect the ability to infect plants (PubMed:28955461)
Longer root hairs under Pi-deficient conditions
High light sensitivity leading to stunted growth with pale-green leaves on agar plates, but unable to grow on soil
Reduced growth of primary root. Delayed flowering
Short root hairs
Impaired vernalization response with incomplete repression of FLC during and after cold exposure, due to a reduction in vernalization-induced histone H3 deacetylation and methylation (e.g. H3K4me3 and H3K27me3)
Mutant shows sensitivity to many beta-lactams. Absence of both LpoA and LpoB leads to a decrease in peptide cross-linking and to cell lysis
Silencing-deficiency characterized by a lower siRNA accumulation and a transcriptional up-regulation of specific loci that correlates with a local loss of cytosine methylation on DNA and an increased methylation of histone H3 'Lys-4' (e.g. H3K4me2, H3K4me3) and 'Lys-36' (e.g. H3K36me3)
Disruption results in the complete loss of diacyltrehalose (DAT) and polyacyltrehalose (PAT) biosynthesis
Slight reduction of root growth (PubMed:29884623). 10-fold increase of the ratio N(6)-methyl-AMP/AMP in leaf cells (PubMed:29884623)
Inactivation of the gene leads to a strain that synthesizes AF but not MAF or RoF
Yellow-leaf phenotype due to reduced chlorophyll content
Does not produce T-2 toxin, but accumulated HT-2 toxin by an alternate pathway that presumably included C-8 oxidation of 3,15-diacetoxyscirpenol to produce 3,15-diacetyl-T-2 tetraol, C-8 esterification to 3-acetyl HT-2 toxin, and C-3 deacetylation to HT-2 toxin (PubMed:11352533)
Morpholino knockdown causes a decrease in eye size and an increase in expression of vsx1 and ccnd1 at 24 hours post-fertilization
RNAi-mediated knockdown results in the extension of mean and maximum lifespan of 21% and 18%, respectively, and increased resistance to oxidative stress caused by paraquat (PubMed:26918946). RNAi-mediated knockdown in a daf-16 mutant background shortens mean and maximum lifespan by 3% and 2%, respectively (PubMed:26918946). RNAi-mediated knockdown in a let-7 mutant background partially suppresses the retarded and supernumerary hypodermal seam cell divisions, retarded alae production and postembryonic lethality (PubMed:28933985). Double RNAi-mediated knockdown with apl-1 in a let-7 mutant phenotype leads to complete suppression of the heterochronic seam cell defects (PubMed:28933985)
Viable and fertile, with no gross abnormalities. Lung tissue appears normal (PubMed:25242865). In a C57BL/6NCr strain background, animals show a mild increase in ovalbumin-induced inflammatory response in lung (PubMed:25242865). However, in a mixed genetic background, there is a reduced ovalbumin-induced inflammatory response, possibly due to the presence of modifier genes (PubMed:25242865). Animals have a more severe response to bleomycin-induced pulmonary fibrosis characterized by increased weight loss, more extensive fibrosis in lung tissue, increased expression of collagen genes, higher numbers of lymphocyte, monocyte and neutrophil cells in bronchoalveolar lavage fluid, and increased cytokine levels (PubMed:26559674)
Heterozygous or homozygous adults display left ventricular dilatation (PubMed:22466703, PubMed:24367651). Left ventricular diastolic diameters are significantly larger, although there is no differences in the systolic ventricular dimensions or contractility indices (PubMed:22466703). Subendocardial fibrosis increases with age and was accompanied by electrical abnormalities, such as widening of the QRS complex, atrioventricular conduction delay and a predisposition to arrhythmia (PubMed:22466703). Rats are at risk of sudden death caused by heart failure (PubMed:22466703, PubMed:24367651)
Cells grow slowly on solid but not liquid medium, excess KaiC expression no longer autorepresses, decreases the amplitude of circadian rhythms. Partially restores sasA deletion phenotypes suggesting they are not in the same output pathway, does not restore rpaA deletion, suggesting rpaA is downstream of labA in the same output pathway (PubMed:17210789). In double labA-cikA deletions KaiC levels are much higher than either deletion alone, but the phosphorylation ratios are nearly wild-type (PubMed:20133618)
Pale seedlings with a delayed development and greening of true leaves resulting in small plants with a characteristic virescent phenotype of pale young leaves but green mature leaves. Loss of NOS activity in mitochondria. Reduced extracellular calmodulin- (ExtCaM-) triggered and salicylic acid (SA)-mediated increase in NO levels and subsequent H(2)O(2)-dependent stomatal closure. Faster dark-induced senescence in leaves. Higher accumulation of hydrogen peroxide, superoxide anion, oxidized lipid, and oxidized protein. Increased hypersensitivity to salt stress and methyl viologen (MV) treatment. Enhanced accumulation of Na(+) but reduced accumulation of K(+) when exposed to NaCl leading to an enhanced sensitivity to salt. Post-transcriptional up-regulation of the methylerythritol phosphate (MEP) pathway. Enhanced resistance to fosmidomycin (FSM). Disturbed chlorophyll-a fluorescence induction in response to temperature variation, accompanied with altered polyamines accumulation
Slow growth, aberrant morphology and development. Produces a severe defect in spore formation. Cells are more adhesive. Alterations in glycosylation on membrane proteins and decreased gp130 and gp150 levels are observed
Embryonic lethal. Heterozygotes show increased lifespan and enhanced resistance to oxidative stress. ATP levels are normal
Essential; it cannot be disrupted. Although it colocalizes with paralog FtsZ-like, the latter cannot replace it
Embryonic lethality seen before day 5.5 of embryonic development (E5.5)
Mutants don't show difference of Ranvier nodes length and width compared to wild-type littermates. Double mutants CNTNAP1 and CNTNAP2 have wider Ranvier nodes
Normal magnetic response, slightly fewer, slightly smaller magnetosomes. A double mms6-mmsF deletion has an intermediate magnetic response, with slightly smaller and fewer magnetosomes than the single mutation (PubMed:24816605). Deletion of the 4 gene operon (mms6, mmsF, mms36 and mms48) gives an intermediate magnetic response with fewer, smaller magnetosomes in irregular pseudo-chains (PubMed:22043287, PubMed:24816605). Deletion of approximately 80 kb of DNA, including this gene, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Substantially reduces production of fusaric acid (PubMed:25372119)
Embryonic lethal. Defects in oocytogenesis and spermatogenesis. Approximately 80% of mutants have an abnormal somatic gonad and no vulva
Leads to drastic reduction of ACT-toxin production and disease severity after inoculation on detached leaves
Cells retain the ability to produce phosphinothricin tripeptide when grown in liquid culture but, the amount of PTT produced is lower
Deletion of the gene results in a severe decrease in flavin export. Mutants lacking the gene have no defect in reduction of soluble Fe(III), but they are deficient in the rate of insoluble Fe(III) oxide reduction
Lethal phenotype (PubMed:16497669). Embryos hatch, initiate growth and development, but arrest at the L2 or L3 larval stages (PubMed:16497669). Abnormal cuticle (PubMed:16497669). RNAi-mediated knockdown causes a 42% decrease in 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthesis activity (PubMed:16497669). Reduced sulfation of disaccharides of heparan sulfate (HS) proteoglycans (PubMed:16497669). Defects in cell shape of epidermis and patterning of body wall muscle cells (PubMed:16497669). Some phenotypes only observed when grown at 25 degrees Celsius; such as shortened malformed tail, exacerbated molting defects, blistering, and sterility (PubMed:16497669)
Increased lifespan (PubMed:17411345). RNAi-mediated knockdown significantly prevents Mn(2+)-induced dopaminergic CEP neuron degeneration (PubMed:23721876). RNAi-mediated knockdown increases tatn-1 expression and enzymatic activity (PubMed:31043480)
Deletion of the prlF-yhaV operon has no effect on virulence in mouse infection; the disrupted strain is as virulent as wild-type
Reduced xyloglucan content
Increases translational -1 frameshifting (PubMed:18627462). Abolishes the formation of the 2-(3-amino-3-carboxypropyl)histidine synthase complex (PubMed:18627462). Resistance to sordarin and zymocin (PubMed:18627462)
No visible phenotype; due to the redundancy with BAK1. Compromised SCOOP10- and SCOOP12-induced root growth inhibition and reactive oxygen species (ROS) production in the double mutant bak1-5 serk4 (PubMed:34535661). Bak1 and bkk1 double mutants are seedling lethal
Not essential. No effect on processing of anti-sigma factors RsdA, RskA, RslA or RsmA
Complete embryonic lethality, due to defects in blood vessel development that lead to heart failure. Mutant embryos display increased branching of the internal carotid artery and of blood vessels in the nervous system, including thinner and more highly branched brain capillaries. Endothelial tip cells present an increased number of filopodia
Reduced survival as a result of hyperosmotic stress induced by NaCl. Double knockout with aak-2 results in reduced glycogen accumulation
Reduced number and length of lateral roots
Alters the ratio of the 2 atropisomers of viriditoxin by favoring the production of the P form instead of the M form
Pigment defective seeds and embryos
Disruption decreases growth on C4-dicarboxylates succinate, fumarate and L-malate as sole carbon sources, but does not affect growth on sialic acid
Reduced accumulation of sodium in roots and shoots (PubMed:17541409). Reduced growth under low sodium and potassium starvation conditions (PubMed:17541409)
RNAi-mediated knockdown of the protein, performed in utero by electroporation in lateral ventricle of 15 dpc embryos, results in a massive neuronal migration defect and in the development of heterotopic nodules along the walls of the lateral ventricles. At 20 dpc, a significant arrest of cells within the ventricular zone is observed, while, at this stage in control embryos, cells have reached the cortical plate
Decreased endogenous pool of benzoic acid (BA)/benzylbenzoate and lower methylbenzoate emission, but increased emission of benzyl alcohol and benzylaldehyde (PubMed:17194766, PubMed:20070567). Increase in the flux from cinnamic acid (CA) to coumaric acid and to flavonoids (PubMed:17194766). Delayed flowering time, large flowers and anthers, delayed anthesis, as well as large and dark seeds accumulating abnormal high levels of flavonoids and anthocyanins (PubMed:17194766). Greater internode length and stem diameter associated with an increased lignin accumulation (PubMed:17194766). Fewer first-order lateral branches but longer primary roots (PubMed:17194766). Seedlings exhibit epinastic cotyledons with fused or supernumerary cotyledons (PubMed:17194766). Increased auxin flux in roots (PubMed:17194766)
Loss of cytidine thiolation in position 32 in tRNA. The deletion mutant grows at the same rate as the congenic wild-type strain, but several specific steps in the translational decoding process are affected in the mutant
Increased sensitivity to salt (NaCl) stress with increased oxidative attack on membrane lipids and higher intracellular Na(+)/K(+) ratio associated with reduced phosphorylation of CATC
Mice show reduced volume of the total brain, the cerebellum and the brainstem. Show complete lack of precerebellar pontin gray and reticulotegmental nuclei. Show impaired precerebellar neuron migration
Embryo lethality when homozygous
Deletion mutant does not prevent TssB1 assembly into a sheath-like structure. However, the sheath exhibits an aberrant phenotype and break itself in smaller pieces
Fails to swell on exposure to the rectal pathogen M.nematophilum, a coryneform bacterium
A double sdiA/ydiV deletion mutant leads to decreased cAMP levels which inhibits quorum sensing system 2
Mutant mice exhibit defects in peripheral nerve development. Initial hind limb weakness developed around age 12 weeks, and significant functional impairment (dragging of hind legs) and muscle atrophy became apparent at age 1 year. After about 5 weeks extensive demyelination of nerve fibers is observed. In later life, large inclusions were seen in the adaxonal Schwann cell cytoplasm. There is no evidence of apoptotic response
Worms exhibit specific defects in mechanosensory behaviors: abnormal head withdrawal reflex, defective reversal behavior in response to nose-touch and foraging behaviors
Transformation efficiency drops 10- to 50-fold (PubMed:11918817, PubMed:11948146, PubMed:14762004). Destabilization of DprA (PubMed:17630974)
Impairs the production of ergosterol and leads to a 6-fold increase in the synthesis of polyprenols
Conditional knockdown in AVB, PVP, and SIAV neurons reduces exploratory roaming behavior
Severely impairs hyphal growth and pathogenicity on wheat leaves (PubMed:29020037). Does not affect adhesion to leaf surfaces (PubMed:29020037). Leads to constitutive overexpression of several transmembrane and secreted proteins, including an important LysM-domain chitin-binding virulence effector, LysM (PubMed:29020037)
Required from embryogenesis through pupation, even in the absence of galactose. Loss of Gale during pupation leads to defects in fecundity, both in male and female. Gale activity toward UDP-Gal is both necessary and sufficient for male fecundity, but Gale activities toward both UDP-Gal and UDP-GalNAc are required for female fecundity. Eggs may require a more substantial pool of specific UDP-sugar substrates than sperm. Individual loss of one activity or the other later in development results in differential sensitivity to galactose. Both male and female deficient in Gale activity toward UDP-Gal exhibit a reduced lifespan when exposed to galactose; this effect is not seen in flies uniquely deficient in Gale activity toward UDP-GalNAc
Embryos are present at the expected Mendelian rate at 15.5 dpc, but mutant mice display about 40% perinatal lethality. At 11.5 dpc, mutant embryos display mildly to severely dilated blood vessels with thinner walls. The dorsal aorta is particularly affected. Many embryos show massive dilatations, ruptures and blood leakage. Surviving animals display small size and hind limb ataxia at 13 days after birth. When held by their tails, they respond by stretching their hind legs pointing upwards. The diameter of their sciatic nerve is strongly reduced. At 3 days after birth, the number of Schwann cells is strongly reduced in sciatic nerve from mutant mice. Likewise, the number of sensory neurons in dorsal root ganglia is strongly reduced (PubMed:11559852). The initially reported gene disruption experiment finds that mice are born at the expected Mendelian rate, are fertile, and have no visible phenotype when young. However, after 4 months mutant mice develop skin alterations with severe ulcers on all extremities. Already before the onset of symptoms, mutant mice display decreased skin innervation and smaller dorsal root ganglia, plus impaired heat sensitivity (PubMed:11559852)
Deletion mutant is slightly elongated at both 15 and 32 degrees Celsius and displays a significant loss of translation fidelity
Higher accumulation of histone H3 methylation H3K9me1 and H3K9me2 marks, including hypermethylation of histones (H3) at CO and FLC promoters during flowering and at PR1 and WRKY25 promoters upon pathogenic interaction (PubMed:28650521). Early flowering probably due to misregulation of CO and FLC (PubMed:28650521). Higher water loss leading to an increased sensitivity to drought and associated with reduced abscisic acid- (ABA), hydrogen peroxide- (H(2)O(2)) and calcium- (Ca(2+)) induced stomatal closure (PubMed:34197643). Impaired resistance to the virulent bacterial pathogen Pseudomonas syringae pv. tomato DC3000 (Pst DC3000) associated with compromised expression of pathogenesis-related (PR) genes (e.g. PR1, PR3, PR4 and PR5), but an enhanced accumulation of WRKY25 (PubMed:28650521)
Larvae infected with Gram-negative bacteria fail to activate tracheal expression of the antibacterial peptide gene Drs (PubMed:22022271). Ectopic bristles develop on the dorsocentral, scutellar and lateral regions of the noctum, with one or more ectopic bristles per hemi-notum (PubMed:18000549)
RNAi-mediated knockdown suppresses fasting-induced oxygen consumption
Increased intracellular levels of ergothioneine, 8-fold increase in reactive oxygen species-producing cells, decreased resistance to the antibiotics rifampicin, isoniazid, bedaquiline and clofazimine (PubMed:26774486). Increased oxygen consumption and extracellular acidification rates, which are further increased by membrane uncoupler CCCP, indicative of electron chain dysfunction in the absence of MSH (PubMed:26774486). Absence leads to alteration of transcript levels for 139 genes which probably compensate for loss of redox control (PubMed:26774486). Loss of induction of some pH-inducible genes at pH 4.5, including the redox-sensor whiB3 (PubMed:26637353)
Deficient mice do not exhibit any overt phenotype under normal conditions. However when challenged with cholestasis induced by bile duct ligation, increased levels of hepatic bile salts and lower serum levels of bilirubin glucuronide are observed, suggesting that Abcc3 provides an alternative route for removal from the liver of these substrates under cholestatic conditions
Embryonic and larval cell fate, polarity, division and migration defects (PubMed:16899238, PubMed:17196955, PubMed:26795562). In several lineages of the developing gonad 42.6% of hermaphrodites do not have either one or both distal tip cells, which results in the absence of the corresponding gonad arm, and germline proliferation defects in the male germ line (PubMed:16899238). Defects in hypodermal morphogenesis including disorganized dorsal cell intercalation, eventually resulting in 2-fold stage arrest, and failed ventral enclosure in some worms (PubMed:16899238). Cell polarity and migration defects including mitotic spindle misalignment, particularly in the ABar blastomere which results in the posterior cells of the blastomere adopting an alternate more anterior position (PubMed:16899238). Defective QL neuroblast migration with 100% of descendants migrating towards the anterior rather than the posterior of larvae (PubMed:16899238). Disrupted asymmetric cell divisions of hypodermal seam cells with the mislocalization and reduced expression of a wnt/beta catenin pathway component sys-1 and its negative regulator apr-1, and wrm-1 in daughter seam cells (PubMed:26795562). Irregular symmetric localization of lin-17/Frizzled in ectodermal blast B cells (PubMed:17196955)
Defective embryo arrested at preglobular stage characterized by aberrant cell division planes leading to an abnormal cell patterning; longitudinal division planes of the proembryo are frequently replaced by transverse divisions and less frequently by oblique divisions (PubMed:17616738). Altered embryo patterning genes expression patterns (PubMed:17616738)
Death before reaching adulthood, probably due to lethal epilepsy. Mice display severe defects in the olfactory bulbs, the hippocampus, and the cerebellum. These defects appear to result from impaired cytokinesis followed by the induction of apoptosis in specific neuroblast populations
Glossy stem wax. Major decreases in primary alcohols and wax esters, and slightly elevated levels of aldehydes, alkanes, secondary alcohols, and ketones
Cells arrest in interphase and have an aberrant chromatin structure
Suppresses worm growth
Homozygous knockout fetuses mice for SLC43A2 display a reduced intrauterine growth not leading to a prenatal lethality. In addition, fetuses mice show a marked reduction in the concentration of almost all amino acids in the amniotic fluid (PubMed:25480797). Pups show growth defect, metabolic alterations and early postnatal lethality (PubMed:25480797)
Cells undergo an apoptotic-like death upon DNA damage characterized by membrane depolarization
Reduced growth compared after germination (PubMed:21331630). Lower mugineic acid family phytosiderophores (MAs) secretion and hypersensitivity to iron (Fe) deficiency (PubMed:17559517). Reduced induction of genes involved in iron homeostasis upon iron deficiency and ethylene treatment (PubMed:21112958)
Severe reduction in the length of stem internodes. Increased thickness of veins in leaves and inflorescence stems. Altered morphology of xylem vessel elements
Mice display mild defects in sclerotome derived vertebral and rib bones (PubMed:12925591). Abnormalities are restricted to the sclerotome and its derivatives and are characterized by a remodeling of the cranio-cervical joints, leading to the assimilation of the atlas into the basioccipital bone so that the skull rests on the axis (PubMed:19520072). Mice lacking Meox1 and Meox2 show extremely disrupted somite morphogenesis, patterning and differentiation. They lack an axial skeleton and skeletal muscles are severely deficient (PubMed:12925591)
Embryos die soon after implantation while preimplantation blastocysts are defective for cell outgrowth
Increased lifespan (PubMed:26537867). Increased sensitivity to the acetylcholine esterase inhibitor Aldicarb, which results in accelerated paralysis likely due to enhanced acetylcholine release by ventral cord neurons and enhanced depolarization of muscles on one side of the body (PubMed:18614679). Double knockout with gbb-2 also results in increased sensitivity to Aldicarb and accelerated paralysis, but in addition results in irregular locomotory behavior characterized by increased speed of locomotion, decreased turning frequency, reduced rate of reversals, and an increased maximal distance covered in a 40 second interval (PubMed:18614679). Double knockout with the GABA(A) receptor unc-49 results in body elongation defects in response to induced GABA release of GABAergic motor neurons (PubMed:21613582)
Cells lacking this gene transfer 40% fewer mycolates to the cell wall with no change in the types of mycolates esterified to arabinogalactan or in the composition of non-covalently linked mycolates. As a consequence, the diffusion of hydrophobic chenodeoxycholate and of hydrophilic glycerol through the cell envelope occurs much more rapidly in mutant cells than in wild-type
Resulted in loss of trypacidin production (PubMed:26242966)
Lack of viability
No visible phenotype. Mice lack detectable lipid droplets in heart. The triacylglycerol and fatty acid content in heart is lower
Deletion of the gene does not abolish methylmalonyl-CoA-decarboxylase or Na(+) transport activity, but it affects the stability of the complex, especially the binding of the alpha subunit. Mutant lacking this gene plus the 3'-terminal half of the mmdD gene lacks methylmalonyl-CoA decarboxylase activity
Reduced plant height, and short and narrow leaves
Embryonic lethal (PubMed:10430909). Homozygous knockout embryos initiate gastrulation with clear differentiation into embryonic germ layers, mesoderm, endoderm and ectoderm as well as the regional expression of critical genes (PubMed:10430909). However, a major apoptotic process leads to their resorption that starts at 7.5 dpc and is completed at 9.5 dpc (PubMed:10430909). Neural cell-specific conditional knockout does not affect early brain development but mice die between postnatal days 11 and 24 (PubMed:16109770). Dysfunction of cerebellum and peripheral nerves associated with some structural defects are observed (PubMed:16109770, PubMed:20544855). Peripheral nerves display increased surface area for both axon and myelin (PubMed:16109770). Purkinje cells undergo axonal degeneration associated with a disruption of myelin sheaths (PubMed:20544855). Forebrain neuron-specific conditional knockout leads to development of progressive obesity, hyperleptinemia, and glucose intolerance (PubMed:23554574). Epidermal-specific conditional knockout leads to a significant decrease of the total glucosylceramide content in the epidermis, a failure of the skin water barrier and a detachment of the stratum corneum (PubMed:17145749). Enterocyte-specific conditional knockout mice display deficient absorption of nutritional lipids (PubMed:22851168). Severe defects in intestinal epithelial differentiation also appear between postnatal days 5 and 7 but not before (PubMed:22851168). Hepatocyte-specific conditional knockout does not change basic liver functions with respect to sterol, glucose, and lipoprotein homeostasis (PubMed:20432257)
A double chpA-chpD knockout has no phenotype; a quadruple chpA-chpC-chpD-chpH knockout has delayed aerial hyphae formation and sporulation. A quintuple chpA-chpB-chpC-chpD-chpH knockout has a longer delay in aerial hyphae formation and an almost complete lack of sporulation. The quintuple knockout still expresses ChpE, ChpEF and ChpG (PubMed:12832397). Quintuple knockout chpA-chpB-chpC-chpD-chpH has strongly delayed aerial hyphae formation, makes many fewer aerial hyphae but no effect on viability of the spores produced. Further deletion of chpE leads to more severe effects, and on rich media few aerial hyphae are produced after prolonged growth. Those few hyphae do differentiate into spores and have a rodlet layer (PubMed:12832396). Deletion of all 8 chaplin genes on minimal medium leads to severely disrupted aerial hyphae that collapse on the colony surface and are not hydrophobic on minimal medium. A few spore chains can still be made, but they have neither rodlets or amyloid-like fibers. rdlA and rdlB mRNA are down-regulated (PubMed:15228525, PubMed:17462011). Deletion of all 8 chaplin genes on rich medium leads to a reduced abundance of aerial hyphae without rodlets and occasional spore chains on surface hyphae. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011). Deletion of all 8 chaplin genes significantly reduces cellular attachment to a hydrophobic substrate; thin fibrils instead of fimbrae are detected. The long chaplins (ChpA, ChpB and ChpC, as seen by near wild-type attachment of the hextuple chpA-chpB-chpC-chpD-chpE-chpH knockout) are not essential but may contribute to attachment (PubMed:19682261)
No visible phenotype under normal growth conditions, but mutant seedlings exhibit enhanced root wavy growth and curvature in response to gravitropism
Mutants exclusively develop into adult males, due to female-to-male sex reversal (PubMed:27913641). Defects are caused by early oocyte apoptosis mediated b< the p53/tp53 pathway (PubMed:27913641)
Increased sensitivity to salt and osmotic stress in germination and cotyledon development. Abscisic acid hypersensitivity
In brain, increased protein levels of p53/TP53 and CHPF (PubMed:19801972, PubMed:22082830). Cortical neurons display a slight increase in process fragmentation but no dendritic retraction (PubMed:24898855)
RNAi-mediated knockdown in the larva results in reduced transcription of developmental genes Eip74EF and Eip75B in the salivary glands, compromised transcriptional recovery after heat shock and defective recruitment of Nup98
Embryonic lethality in 2.7% of embryos and 17% reduction in brood size compared to wild type (PubMed:34329293). No larval arrest or high incidence of male phenotypes (PubMed:34329293). Disrupted mitotic progression characterized by a reduction in the length of the premeiotic tip which is where mitotically dividing nuclei are located in the germline, and furthermore the nuclei in this region are disorganized (PubMed:34329293). Increases methylation of 'Lys-4' of histone H3 in embryos, in premeiotic tip nuclei and pachytene nuclei (PubMed:34329293). Increases the expression of spr-5 in mitotic cells (PubMed:34329293). Reduces expression of mlh-1 (PubMed:34329293). Induces DNA damage response without exogenous DNA damage exposure by increasing the expression of DNA damage marker egl-1 and increasing the number of phosphorylated chk-1 foci in embryos, premeiotic tip-transition zone and pachytene nuclei (PubMed:34329293). Increases the numbers of rad-51 positive foci in nuclei in the late pachytene stage of meiosis and increases germ cell apoptosis (PubMed:34329293). Reduces sensitivity to interstrand cross-link DNA damage induced by cisplatin or nitrogen mustard (PubMed:34329293). Increased numbers of rad-51 positive foci in nuclei in gonads and chromosome fragmentation results at the premeiotic tip following exposure to nitrogen mustard (PubMed:34329293)
Sterility and embryonic lethality
Mice hearts develop less dilation and dysfunction when exposed to sustained pressure overload
Yeasts grow well on the fermentable carbon source dextrose, but only poorly aerobically on glycerol, indicating a defect in respiration. Furthermore, the deletion strain is unable to reduce sodium nitroprusside, indicating that the defect is likely in heme biosynthesis. Nitroprusside reduction can be rescued by supplementation of the medium with either glycine or 5-aminolevulinate (ALA) (PubMed:19412178). In combination with a disruption of MCX1, abrogates mitochondrial respiration (PubMed:25957689)
Delayed development and flowering, reduced length of leaves, stems and siliques, increased sensitivity to abscisic acid (ABA) and increased drought tolerance
Decreases cell adherence to silicone substrate. Blocks biofilm formation
Flies have defects in locomotor behavior and die during larval development, due to abnormal neural function. Mutant males lacking functional slmo survive into adulthood and show an early division of the germline but never progress through the gonial divisions. Mutant females demonstrate germarial degeneration and reduced fertility
Mice display incorrect granule organization in pancreatic acinar cells and other serous exocrine cells such as parotid acini and gastric chief cells. They also display mislocalization of mitochondria and Golgi apparatus and reduced Ca(2+) uptake by mitochondria
The deletion mutant is highly sensitive to methyl viologen
Morpholino knockdown of the protein causes strong ciliopathy phenotypes, including pronephric cysts, axis curvature, left-right asymmetry defects and hydrocephalus. Cilia length and number appear normal, but cilia are dyskinetic
Partial embryonic and perinatal lethality, due to heart ventricle hypoplasia and impaired proliferative capacity of heart myocytes. Mutant mice that survive into adulthood have a decreased heart weight relative to body weight. They display dilated cardiomyopathy with a loss of ventricular mass, due to a reduction in the number and size of cardiomyocytes. The myocardium from mutant mice displays abnormal organization of the contractile elements, with an irregular array of sarcomeric myofibrils and abnormally wide Z bands. In addition, heart muscle mitochondria display structural and functional defects. Mutant mice do not respond to chronic exposure to low oxygen levels by remodeling of their lung arteries, unlike wild-type mice, and as a consequence, do not develop increased right ventricular systolic pressure in response to chronic hypoxia. Adult mutant female mice display reduced bone density that worsens with age. Osteopenia is due to reduced proliferation and delayed differentiation of osteoblasts and reduced calcium incorporation by osteoblasts (PubMed:17846081). In addition, mutant mice display a reduced number of proliferating interstitial cells of Cajal in the myenteric plexus in jejunum muscle, and a reduced number of interstitial cells of Cajal in the deep muscular plexus (PubMed:19941613). Mutant mice also show increased locomotor activity in a novel environment, compared to the wild-type. Unlike the wild-type, they do not respond to the drug 3,4-methylenedioxymethamphetamine with increased locomotion and increased 5-hydroxytryptamine and dopamine levels in the brain (PubMed:18337424)
Impairs the production of 2-oxocyclopiazonic acid, but accumulates cyclopiazonic acid (CPA)
No visible phenotype. ForA and forB double null cells also show no phenotype
Increased nitric oxide-evoked calcium flux to cytoplasm in ASJ sensory neurons (PubMed:30014846). Decreased avoidance of P.aeruginosa (PubMed:30014846). Decrease in lifespan (PubMed:16387300, PubMed:16324156). Suppression of lifespan extension induced by dietary deprivation or in an eat-2(ad1116) mutant background and partial suppression in a daf-2(e1370) mutant background (PubMed:21334311). Enhancement of the constitutive dauer formation phenotype in a daf-11(ks67), daf-11(m47), daf-11(sa195), daf-7(e1372), daf-1(e1287) or daf-8(e1393) mutant background at 15 degrees Celsius (PubMed:21304598). Suppression of the constitutive dauer formation phenotype in a daf-11(sa195), daf-28(tm2308) or daf-28(sa191) mutant background at 25 degrees Celsius (PubMed:21304598). Failure in down-regulation of daf-28 expression during dauer stage (PubMed:21304598). Decreased survival when facing oxidative stress upon exposure to sodium arsenite or paraquat (PubMed:26920757, PubMed:16324156). Increased localization of skn-1 to the nuclei of intestinal cells (PubMed:26920757). Suppression of skn-1 nuclear localization in a nsy-1(ok593), sek-1(km4) or pmk-1(km25) mutant background (PubMed:26920757)
Non-essential; synthetic lethality is seen in a triple tig-dnaK-dnaJ disruption, although this depends on temperature (triple disruptions grow slowly at 20 and 34 degrees Celsius but not at all at 43 degrees) and strain background
No visible phenotype under normal growth conditions, but plants show reduced root size when grown in presence of hydroxyurea (PubMed:20647223). No visible phenotype, but decreased accumulation of total arsenic in shoots (PubMed:16507083). No effect on arsenate sensitivity (PubMed:25099865). No effect on the accumulation of arsenate in roots, efflux of arsenite or uptake of arsenate, or the total arsenic accumulation in shoots (PubMed:22879969, PubMed:25464340)
Abnormal mitophagy during nitrogen starvation (PubMed:33138913). Decreases vegetative cell population growth (PubMed:33138913)
Cells lacking this gene are completely unable to grow on ethanol as the sole carbon source
Mutation abolishes swarming motility, reduces swimming speed and torque of tethered flagella. It does not affect flagellar assembly, flagellar number or surfactant production
Seedlings with abnormal cotyledons
Disruption of both ccdA and ccdB has no phenotype, except for increased plasmid loss
Seedless (parthenocarpic) fruit
Deficient mice exhibit abnormal breathing at birth and die within 24 hours
Mice are viable and fertile. They have no derangements in any of the major organ systems, including the nervous systems. Moreover, bone marrow cells from mutant mice only show mild decrease of colony-forming unit(CFU)-myeloid
Cells lacking this gene have no detectable phenotype
Temperature sensitive phenotype with severe sterility at the restrictive temperature of 25 degrees Celsius (PubMed:16360684, PubMed:20971008). Zygotes exit the spermatheca with a pinched morphology and leave a trailing section behind and are polyspermic (PubMed:20971008). The eggshell chitin layer is fragmented and often accumulates at one end of the embryo (PubMed:20971008). Ovulation is severely reduced resulting in oocyte accumulation in the gonad and a disappearance of sperm in the spermatheca (PubMed:16360684). Conversely, although sperm and oocyte appear to make contact in the spermatheca no visible fertilization occurs and endomitotic oocytes accumulate with age (PubMed:16360684). Male fertility is not affected (PubMed:16360684). Simultaneous RNAi-mediated knockdown with egg-2 results in complete sterility (PubMed:16360684). In unfertilized oocytes, disrupts the homogenous distribution of cortical chitin synthase chs-1, pseudophosphatase egg-3 and kinase mbk-2 (PubMed:20971008)
No alteration in UV resistance; does not replace RecA
Essential for growth; the 100 C-terminal residues are not required for growth
Leads to defects in actin polarization, endocytosis, bud morphogenesis, as well as altered abundance and distribution of the cortical actin patches and increased sensitivity to calcofluor white and Congo red. Shows also attenuated virulence
Increases the susceptibility to mycophenolic acid, fuconazole, ketoconazole and itraconazole (PubMed:11065353). Reduces the efflux of spermidine as well as of histatin 5, a salivary human antimicrobial peptide that is toxic to the opportunistic yeast C.albicans (PubMed:23380720). Leads also to reduced biofilm formation (PubMed:23380720)
Decreased secretion of a number of substrates for the type III secretion system (TTSS) encoded in the locus of effacement (LEE) including Tir, EspA and EspD; at least EspD is also decreased intracellularly. Expression of 105 genes is altered; down-regulation of LEE PAI (including the TTSS) plus other genes as well as up-regulation of 21 genes. Decreased ability to form attachment/effacing lesions on HeLa cells; those which form attachments condense host actin less well (pedestal formation) (PubMed:26727373)
Exhibits increased phosphatidylinositol 3-monophosphate (PI3P) level
Impaired stable genetic transformation by Agrobacterium T-DNA
Mice display significantly longer axons than wild-type mice. Overexpression of Tbcb causes microtubule depolymerization, growth cone retraction and axonal damage followed by neuronal degeneration
Homozygous lethal. RNAi-mediated knockdown in ovarian follicle epithelium results in cell proliferation in the germarium epithelium. Stalks between adjacent egg chambers/ follicles become elongated due to increased number of cells and the linear arrangement of germline cysts is also disturbed
No visible developmental defects but males and females display reduced fertility (PubMed:27462444, PubMed:22615583, PubMed:23562806). Males are sterile due to disruption of spermatid coiling (PubMed:27462444, PubMed:22615583, PubMed:23562806). Spermatids individualization complexes are displaced from the outer region of the testis coil to the inner region and display increased apoptosis (PubMed:22615583). During oogenesis, defective assembly and disassembly of cytoophidium in nurse cells result in a range of phenotypes resulting from reduced CTP production (PubMed:25223282). These include reduced egg laying, disruptions in the plasma membrane between adjacent nurse cells that result in the nurse cells fusing, and reduced nurse cell nuclei diameter most likely as a result of defective endoreplication (PubMed:25223282). Cytoophidium are observed in the germanium at an earlier developmental stage and persist inappropriately into late-stage egg chambers (PubMed:25223282). The number of cytoophidium in the cytoplasm of nurse cells is increased and their length is reduced (PubMed:25223282). Enhances the small eye phenotype in hid mutants (PubMed:22615583). Developing embryos display a very low frequently of dorsal defects (PubMed:18816840). Simultaneous knockdown of Ack and Ack-like results in many embryos failing to properly secrete the cuticle likely due to the loss of zip expression (PubMed:18816840). Mutants also display defects in the dorsal surface including holes in the cuticle and germband retraction failure (PubMed:18816840)
Worms exhibit an inhibition of intestinal Ca(2+) release activated Ca(2+) channel activity but has no effect on the initiation of posterior body wall muscle contraction, intestinal Ca(2+) oscillations or intestinal ER Ca(2+) store homeostasis. Attenuation also affects sterility and brood size
Severe dwarfism combined with twisted and malformed organs, and sterility. Loss of initial meristematic divisions in the epidermal/lateral root cap. Defection in basipetal transport of auxin (IAA) leading to several development aberrations
Increased expression of TubZ
Abolishes signal transduction during cold signaling in intestine and ASER neuron
Seedling lethality with severe dwarfism. Plants develop collapsed and inviable pollen grains
Results in a reduction in growth rate (PubMed:31969561). Leads to a multidrug-resistance phenotype, including the azoles (itraconazole, voriconazole and posaconazole), as well as the salvage therapeutic amphotericin B and terbinafine, an agent used in the treatment of chronic and allergic disease (PubMed:31969561). Leads also to transcriptional derepression of cdr1B and its over-production (PubMed:31969561). Results also in a notable increase in the immunogenic properties of Aspergillus fumigatus, but does not result in loss of virulence (PubMed:31969561)
Mutant mice generated by CRISPR-Cas9-mediated gene editing show severely reduced scotopic and photopic responses and have significantly fewer green cone photoreceptors compared to wild-type animals
Embryonically lethal at 9 days post-coitum (dpc) (PubMed:19336225). Embryos are defective in heparan sulfate (HS) synthesis (PubMed:19336225). Conditional knockout in pancreatic islet beta-cells results in a lack of HS in pancreatic islet beta-cells (PubMed:19336225). Abnormal pancreatic islet morphology with reduced beta-cell proliferation and glucose intolerance due to defective insulin secretion (PubMed:19336225)
Morpholino knockdown results in broadening of hindbrain boundary marker expression
Completely abolishes aurovertin production (PubMed:26340065)
Deletion mutant does not support type III secretion
Mutants contain the same concentration of molybdenum but they show a 75% reduction in tungsten concentration and a 50% reduction in formate dehydrogenase (FDH) activity
Inactivation of divIVA results in severe growth inhibition and defects in cell shape, nucleoid segregation, and cell division, since it leads to the formation of chains of unseparated, morphologically altered cells with incomplete septa, often devoid of nucleoids (PubMed:14526035). However, a further study (PubMed:17098892) showed that the anucleate cells observed in the divIVA null mutant (corresponding to 15% to 20% of the population) were indeed dead cells in the process of lysing. All the cell division proteins tested are localized in the divIVA null mutant, although the percentage of cells having constricted Z rings is significantly reduced (PubMed:17098892)
Not essential for gas vesicle formation in E.coli
RNAi-mediated knockdown causes blisters in the cuticle and abnormal localization of collagen col-19 in cuticle dorso/ventral annulae and lateral alea
Defect in fusion of polar nuclei and in synergid cell death
Male mice are infertile with impairment of spermiogenesis in late elongating spermatids. The sequential deposition of sperm basic nuclear proteins on chromatin is disrupted, with a specific loss of protamine-2 and prolonged retention of Tnp2 in step-15 spermatids
Males mice are sterile and aspermic due to abnormal pachytene spermatocytes, characterized by the appearance of unusual inclusion bodies and dense compacted nuclei. Spermatocytes fail to proceed beyond the pachytene stage due to abnormal pairing and misalignments between homologous chromosomes, non-homologous partner switches and autosynapsis of X chromosome cores in meiotic spermatocytes. No other abnormalities are detected in any tissues of males. Females mice are fertile (PubMed:12764197). Spermatocytes show derepressed LINE-1 retrotransposon and reduced DNA methylation due to deficient nuclear accumulation of Miwi2 (PubMed:22902560)
Blood stage parasites are not viable (PubMed:18083098, PubMed:29459732). Initial schizont development is normal but merozoite egress is abolished due to a failure to rupture the parasitophorous vacuole membrane (PubMed:29459732)
Double knockout with toca-1 results in nearly 100% of mutants with defective endocytosis by oocytes characterized by either reduced or non-detectable yolk protein in the oocytes and by an accumulation of aggregated yolk protein in the pseudocoelomatic space. Double knockout mutants with toca-1 also produce 20% fewer eggs compared to wild-type animals and there is some embryonic lethality whereby the dying embryos display defective morphogenesis including failed epidermal enclosure with extruding gut cells and increased width of the intestinal lumen (PubMed:19798448). This perhaps results from failed intercalation and migration of hypodermal cells and irregular protein trafficking as indicated by an accumulation of the cell junction protein ajm-1 and diffuse localization of actin at cell junctions (PubMed:19798448, PubMed:26578656). These double mutants also demonstrate defective endosomal sorting of recycling cargo proteins such as mig-14 (PubMed:25775511)
No visible phenotype and no changes in disease susceptibility
Increased defense responses against the necrotrophic pathogen A.brassicicola. Down-regulation of salicylic acid (SA)- mediated WRKY70 and PR genes expression, leading to reduced resistance to the biotrophic pathogen P.syringae pv. tomato DC3000
Altered specification of terminal and lateral spikelet meristems, resulting in the generation of a panicle composed of excessive ramification of rachis-branches
Reduced RNA-dependent DNA methylation (RdDM) target transcripts levels (PubMed:26119694). Increased DNA (e.g. CHG cytosine methylation) and histone (e.g. H3K9me2) methylation, including on FWA, QQS and SDC loci and on retrotransposon-derived solo long terminal repeat (solo LTR), AtSN1 and SDC loci leading to their reduced expression (PubMed:26119694, PubMed:26798133). Increased silencing of the DNA transposon AtMu1c leading to slightly decreased transcript levels (PubMed:26979329). Lower 24-nt small RNAs (smRNAs) accumulation as a result of AtSN1 derepression (PubMed:26119694). The double mutant rdr2-1 jmj24-1 exhibits an increased expression of retrotransposon-derived solo long terminal repeat (solo LTR) and SDC due to their derepression (PubMed:26119694). Several subtle developmental defects (e.g. slightly larger organ, abnormal floral organs and altered inflorescence branching) by modified expression of a relatively small number of genes at the vegetative stage (PubMed:28400174). Complements partially growth defects and expression changes caused by the loss of JMJ25/IBM1 mostly at vegetative stage, but the double mutant jmj24-3 ibm1-4 has synergistic effect on root growth (PubMed:28400174)
Unable to grow on minimal medium with trehalose or glucose as the sole carbon sources or in limited medium containing trehalose (PubMed:35136132). Resistant to trehalose analog 6-TreAz (PubMed:35136132). Slow growth on minimal medium supplemented with maltose or lactose as the sole carbon and energy sources at both neutral pH and acidic pH 5.7 (PubMed:32138343). The supplementation of glycerol or glucose promotes growth at acidic pH, but reduces growth significantly at neutral pH in minimal medium and on solid agar (PubMed:32138343, PubMed:32139546, PubMed:35467412, PubMed:35136132). Mutants grow normally in rich medium at either neutral or acidic pH, and in media containing oleic acid or hexanamide as the sole carbon sources (PubMed:32138343, PubMed:32139546, PubMed:35467412). Cell envelope-associated glycolipid phthiocerol dimycocerosate (PDIM)-positive mutants are resistant to 3bMP1 compound (PubMed:32139546). Deletion mutant-infected mouse RAW264.7 macrophages have increased canonical autophagy and decreased intracellular bacterial burden 24 hours postinfection (PubMed:35467412). They have significantly higher reactive oxygen species (ROS) levels and increased MAP kinase Erk1/2 phosphorylation compared to macrophages infected with wild-type bacteria, but no increase in JNK mitogen-activated protein kinase (MAPK) or p38 MAPK expression or phosphorylation (PubMed:35467412). Primary murine bone marrow-derived macrophages (BMDMs) and dendritic cells (BMDDCs) have improved internalization of the deletion mutant, increased autophagy and reduced intracellular survival of the mutant during infection, compared to infection with wild-type (PubMed:35467412). Mutant-infected primary murine BMDMs secrete increased interleukin 6 (IL-6) and IL-1, and accumulate ROS (PubMed:35467412). These effects are not seen in mutant-infected BMDMs of the TLR2-deficient (tlr2(-/-)) mice (PubMed:35467412). Deletion mutant-infected human macrophage-like THP-1 cells have increased induction of autophagy and reduced intracellular bacterial burden compared to THP-1 cells infected with the wild-type (PubMed:35467412). At 72 hours postinfection, significantly more necrotic cell deaths occur in the mutant-infected THP-1 cells (PubMed:35467412). Significantly attenuated infection in lungs and spleens by deletion mutant delivered to the lungs of C57BL/6J mice by intranasal inoculation, but no attenuation in TLR2-deficient mice (PubMed:35467412). Increased autophagy in lungs, enhanced MHC class II antigen presentation and recognition, and significantly increased IFN-gamma and TNF-alpha-producing CD4(+) T cells in spleen, in response to tubercular antigens compared with wild-type in mutant-infected C57BL/6J mice (PubMed:35467412)
Insertion mutant shows increased sensitivity to H(2)0(2), reduced catalase expression and an absence of induced protection of the cell
Embryos show a down-regulation of early pronephric markers lhx1a/lim1 and pax2a/pax2.1, and subsequent kidney defects
Female and male sterility due to production of defective gametes
Leads to reduced virulence and a delay in the expression of rice blast symptoms
Mice are healthy and do not display any obvious abnormality. They have normal hematopoietic differentiation
Conditional knockout mice in excitatory neurons do not show any prosocial effects of lysergic acid diethylamide (LSD) unlike control mice. Conditional knockout mice in inhibitory neurons show no different LSD-induced prosocial behavior compared to control mice
RNAi-mediated knockdown results in few viable embryos and as a result few live progeny and defective growth
Petal color variations. Petals accumulate anthocyanin lacking the glucosyl moiety at the 5 position
Mutants display no defects in body left-right asymmetry, no obvious motor defects, and normal kidney and liver morphology. Tracheal epithelial cells display aberrant ciliary bending angles and disordered ciliary bending patterns. Likewise, planar cell polarity is disrupted in ependymal epithelial cells
Mutants are viable, with no discernible division phenotypes
Leads to sensitivity to camptothecin, thiabendazole, DNA damaging agents and microtubule depolymerizing drugs
Heterozygous mice are viable and fertile, but homozygous mice display nearly complete embryonic lethality. Most embryos die at about 10.5 dpc (PubMed:18448090, PubMed:19056886). A majority present disruption of the basement membrane and ruptures of the anterior visceral endoderm (PubMed:19056886). About one third display a pronounced defect in the fusion of the lateral edges of the body wall, resulting in cardia bifida. Mutant mice display also a defect in proepicardial cell migration. About one third of the mutants display abnormal morphogenesis of the neuroepithelium and headfold fusion defects. Besides, mutant embryos display defects in definitive endoderm migration, resulting in anterior axis truncations. Each of these phenotypes has partial penetrance, and many mutant embryos present a spectrum of defects. About 3% of the mutants develop into viable and fertile adults (PubMed:18448090, PubMed:19056886)
Exhibits phenotypes characteristic of ciliopathies. Pre-axial polydactyly. Retinal degeneration, characterized by loss of the outer nuclear layer that contains the cell body of photoreceptor cells
Causes greater curvature of cells growing in a filamentous manner and morphological defects in suspensor cells and chlamydospores. Leads to reduced tissue penetration and non-invasive fungal masses in mice infected kidneys. Leads also to hypersusceptibility to caspofungin
Conditional knockout in heart results in a severe cardiomyopathy and mitochondrial iron accumulation
Defects in prestarvation response, sporulation and in resistance to heat shock. When overexpressed, induces precocious aggregation, however, development arrests before the tight mound stage
Decreased growth below 30 degrees Celsius (PubMed:1691451). Altered expression of a number of genes (PubMed:2128918, PubMed:8890170, PubMed:8913298, PubMed:23543115). Derepression of the cryptic blg operon (PubMed:8913298, PubMed:11790731). Alteration of chromosome organization (PubMed:21903814). Double hns-stpA mutants grow slower and have reduced viable cell counts compared to single hns mutants in MC1029 and MC4100 backgrounds (PubMed:8890170). In 0.3M NaCl a double hns-stpA deletion up-regulates 583 and down-regulates 86 genes, 363 of which are thought to have been horizontally acquired; 131 are also up-regulated in a double cnu-hha deletion (PubMed:23543115). At 28 degrees Celsius csgD transcription is reduced (PubMed:17010156). Flagella loss due to reduced expression of the flhDC operon (PubMed:11031114). Flagella can be restored by expression of flhDC, but strains are non-motile, suggesting H-NS also plays a role in flagellar function (PubMed:11031114). Disruption leads to increased expression of CRISPR-cas genes and increased viral resistance (PubMed:20659289)
Worms exhibit a lack of MC neurotransmission possibly explaining the observed reduction in pharyngeal pumping rate (PubMed:15020415). Mutants show differences in their pharyngeal responses to nicotine (PubMed:15020415). A variety of mutants show an increase in lifespan ranging from 29-57% longer than wild-type (PubMed:15141086, PubMed:28853436). Extended self-fertile reproductive span, fast body movement, and a longer pharyngeal pumping span (PubMed:15141086). The strongest allele (ad1113) shows retarded growth (PubMed:15141086). Animals generally have smaller nucleoli (PubMed:28853436). Double knockout with ncl-1 reduces the increased longevity and suppresses the reduced nucleoli size phenotype of the eat-2 single mutant, and reduces the increased ribosomal protein synthesis in the ncl-1 single mutant (e1942) (PubMed:28853436)
Morpholino knockdown of the protein causes myelination defects and functional deficits, characterized by progressive ataxia and motor skill impairment (PubMed:27890673). A disruption of retina architecture and retinotectal projections is observed, together with an inhibition of lens clarification and a low number of mechanosensory hair cells in the inner ear and lateral line system (PubMed:27890673)
Smaller siliques and reduced seed set. Disrupted pollen tube guidance
Secondary cell wall (SCW) defects including severe reduction in SCW thickening in both interfascicular fibers and xylary fibers of inflorescence stems (PubMed:18952777). Hyperlignified SCW in interfascicular fibers and xylary fibers (PubMed:23781226)
Reduced plant growth, impaired lateral root formation, rounded and pale-green leaves, protruding leaf laminae, irregular leaf margins and reduced seed sets
Mice have significantly elevated numbers of bone marrow derived hematopoietic stem/progenitor cells (HSPCs) and which are more actively proliferating and resistant to stress
No visible phenotype. Pok1 and pok2 double mutant dissplays smaller cotyledons as well as shorter, wider roots and hypocotyls with adult plants exhibiting a dwarfed stature and producing reduced numbers of seeds
Larvae do not absorb dietary neutral lipids, consume very little yolk, are small and die by 6 days post-fertilization (dpf) with pronounced edema. No defects in intestinal absorption of short chain fatty acids. Loss of visualization of neutral lipids in the vasculature, heart and head structures by oil red o staining. Levels of apolipoprotein B, vitellogenin and lipovitellin unchanged. No cardiovascular defects or global intestinal function impairment. Increased expression of Foza2 and Pgc1 proteins (PubMed:17176039). Leads to excess angiogenesis and yolk absorption defects. Decreased mRNA levels of flt1 at 24 hours post-fertilization (hpf) with no change in the mRNA levels of kdrl or flt4 or in other vascular genes (PubMed:22581286)
Cells lacking this gene are nonthiolated at the wobble uridine position of tRNA(Lys). No effect on cell growth or yield at 42 degrees Celsius. Transferring the cells grown at 42 degrees Celsius to 50 degrees Celsius results in a slow-growth phenotype
Cells lacking this gene accumulates methylglyoxal and are unable to grow on glucose, lactate or other carbon sources
Sporulation is not significantly affected
RNAi-mediated knockdown results in ectopic expression of the homeobox protein egl-5 in the head region of hermaphrodites (PubMed:17574230). RNAi-mediated knockdown results in morphological defects in the male tail due to cell transformation defects whereby anterior seam cells adopt a posterior seam cell fate, which is indicated by ectopic expression of the ray-specific protein pkd-2 in the anterior mid-body region (PubMed:17574230). This leads to impaired cell identities of the rays derived from seam cells (PubMed:17574230). These animals also have defective cell transformations in the ventral cord and generate two extra serotonergic CP neurons (PubMed:17574230). RNAi-mediated knockdown results in ectopic expression of tbx-2 in the gut and seam cells of L4 stage larvae and adults (PubMed:23933492)
In cells lacking this gene the expression of mngA and mngB increases by 9-fold and 23-fold, respectively
Required for growth on solid medium
Absence of axillary meristem (AM) in most of the lateral branching of the panicle, and reduced number of AMs at the vegetative stage
Deletion mutant does not show growth defect in LB medium, but it exhibits an evident growth defect after treatment with AMS
Mutant exhibits severe growth defects and contains an increased amount of phosphatidylinositol mono- and dimannosides and a decreased amount of acylated phosphatidylinositol dimannosides compared with the wild-type parental strain
Mice show defects in invadopodia biogenesis (PubMed:19755709). Mutants have a very sever defect in controlling bacterial replication (PubMed:28351984). Mice show spontaneous trunk curland head bobbing and fail to exhibit contact-rghting reflex (PubMed:28351984)
No effect in a single knockout, but growth is inhibited at high light (120 umol photons/m(2)/s) or at elevated temperature in a triple protease knockout mutant (hhoA, hhoB and htrA). Triple mutants are not phototactic. No effect on the PSII repair cycle, even in the triple protease knockout strain
Swarming motility inititates later than in wild-type; once inititated the swarming velocity is normal (PubMed:11287746)
No visible phenotype under normal growth conditions, but mutant plants are impaired in hydrotropic response
Cells lacking this gene are unable to grow methanol, ethanol, propan-1-ol and butan-1-ol, but are still able to grow on formaldehyde
Cells lacking this gene are still able to produce the aminoglycoside antibiotic validamycin A, but not validamycin B
High susceptibility to DNA virus infection, such as lethal herpes simplex virus-1 (HSV-1) (PubMed:29426904). Cells are defective in CGAS-mediated type I interferon IFN-beta production upon HSV-1 infection (PubMed:29426904). No susceptibility to RNA virus infection, such as influenza A virus (PubMed:29426904). No visible phenotype in normal conditions (PubMed:29426904)
Defective histidine metabolism resulting in elevated histidine levels and resistance to nickel and zinc toxicity. Additionally, slightly resistant to copper, slightly sensitive to cobalt and iron and substantially sensitive to manganese
Loss leads to embryonic lethality as early as 7.5 dpc. Brain-specific conditional knockout produces a brain with an essentially absent cortex lacking all cortical neurons
Cells show reduced secretion of autolysins p60 and MurA, as well as at least 7 other proteins, and are responsible for a smooth to rough phenotype change. These deletion mutants are not as virulent as wild-type when used in mouse infection tests. Large in-frame deletions of this gene reduce secretion of autolysins p60 and MurA, as well as at least 7 other proteins, and are responsible for a smooth to rough phenotype change. These deletion mutants are not as virulent as wild-type when used in mouse infection tests
Mutant can use malate, succinate plus glutamate or glucose as efficiently as the wild-type strain (PubMed:12949160, PubMed:16788182). The ATP concentrations in the mutant grown in minimal medium with glucose are similar to the wild-type level. ATP concentrations decrease by about 10% in malate minimal medium. The mleA-maeA-malS triple mutant shows a decrease in ATP concentrations by about 20% and a moderate growth defect (PubMed:23136871). NADPH overproduction is roughly halved in the deletion mutant (PubMed:33824210)
No visible phenotype under normal growth conditions, but mutant plants show reduced glycerophosphodiester phosphodiesterase activity under phosphate starvation
Depletion of EMG1 affects growth and leads to strong ribosome biogenesis defects, with defects in 20S pre-rRNA and mature 18S rRNA species
Mutant mice display no obvious phenotype, but display increased blood glucose levels when fed ad libitum (PubMed:20921208). After oral or intraperitoneal glucose administration, they display increased blood glucose and lower plasma insulin levels; basal fasting glucose and insulin levels are not altered (PubMed:20921208). Ca(2+) influx into beta-cells is unchanged under basal conditions or upon stimulation with glucose up to 8.3 mM; Ca(2+) influx is decreased upon stimulation with high glucose levels (16.7 mM) (PubMed:20921208). Likewise, insulin secretion is decreased only upon stimulation with 11.2 or 16.7 mM glucose, but not in response to more moderate glucose levels (PubMed:20921208). Mutant mice have a reduced number of neurons that are activated by warm temperature (34 to 43 degrees Celsius) in their dorsal root ganglia and superior cervical ganglia (PubMed:27533035). Mutant mice show altered behavorial responses to environmental temperature; contrary to wild-type they show no preference for a cooler environment when exposed to 38 degrees Celsius (PubMed:27533035). Besides, they spend less time than wild-type in a cooler environment (23 degrees Celsius) (PubMed:27533035). Mutant mice develop higher fever in response to prostaglandin E2 injection into the preoptic area of the hypothalamus, a brain area involved in body temperature control (PubMed:27562954). Mutant mice display a defective innate immune response and are highly susceptible to infection by L.monocytogenes (PubMed:21709234). They are unable to contain the bacterial infection; contrary to wild-type, they die within a few days after infection (PubMed:21709234). The defective immune response is due to impaired secretion of Il12b and IFNG; mice are rescued by treatment with recombinant IFNG (PubMed:21709234)
No visible phenotype, but reduced myoinositol and ascorbate levels
Plants are seedling lethal and are hypersensitive to glucose and abscisic acid. High accumulation of ABI5
Morpholino knockdown of the protein alters the neural development in embryos
Mice display defects in neuronal morphology and changes in behavior, characterized by lower locomotor activity, anxiety and reduced auditory fear memory (PubMed:27561456, PubMed:32350463). Mice are protected from pyroptosis of intestinal epithelial cells caused by acute ionizing and subsequent intestinal damage: in contrast to wild-type mice, crypts of Aim2-deficient mice maintain their integrity (PubMed:27846608). Mice develop more tumors in the colon in the azoxymethane and dextran sulfate sodium model of colorectal cancer (PubMed:26095253, PubMed:26107252)
Slow to adapt to new temperature levels. Dgk-3 and dgk-1 double mutant shows defects in olfactory adaptation
Essential, it cannot be deleted. Depletion experiments show loss of growth after 12 hours, cells remain viable for a further 12 hours before they can no longer be rescued by induction of smpB. Similarly, the gene for tmRNA (ssrA) cannot be deleted; mutations in the tmRNA show that it is the ribosome rescue function and not protein tagging and subsequent degradation that is essential for viability. Mutant tmRNAs that affect protein tagging are however more susceptible to antibiotic stress and less naturally competent for DNA transformation
Displays sensitivity to DNA damaging agents
Cells show no developmental defects, mild motility defects and serious defects in cytokinesis
Both female and male vret mutants are sterile
Failure of formation of primary and motile cilia in ependymal cells of the prosencephalic choroid plexus. Centrosomes are rarely found near the cell surface but are often mislocalized deep within the cell and do not show coordinate orientation within group
Defects in locomotion
Cells lacking this gene lead to an accumulation of 5-CHO-THF. This mutant becomes more susceptible to antifolates that inhibit folate biosynthesis (sulfonamides) or reduction (trimethoprim)
Plants show a low-nitrogen-induced early senescence phenotype and an excessive accumulation of salicylic acid after pathogen infection or application of benzoic acid
Animals die as third instar larvae, are smaller than wild-type and show very severely reduced brain volume (PubMed:31735666). Complete disruption of brain morphology, especially the optic lobe, in 3rd instar larvae (PubMed:31735666)
Animals have a shortened lifespan and exhibit early behavioral decline characterized by the premature onset of uncoordinated locomotion and paralysis
Embryonically lethal. Embryos display severe developmental defects, including neural tube closure defects, abnormal patterning of the spinal cord and the limb buds. They display polydactyly on all limbs and defects in skeletal development and organogenesis, including malformed sternum, ribs and long bones, as well as severely hypoplastic lungs and conotruncal defects. The number of hair follicles is also reduced. Defects in ciliogenesis are clearly noticed and result in abnormal hedgehog/smoothened signaling
Morpholino knockdown of the protein in the embryo causes ventral body curvature, pronephric cyst formation and laterality defects, including reversed heart looping
Delayed cell death process
Disruption of the gene leads to phage C1 adsorption defect. Mutation does not impair vitamin B12 utilization (PubMed:8752353). Mutant is resistant to phage C6 (PubMed:12558182). Null mutant is not viable when grown at low temperatures, conditions which impact membrane fluidity (PubMed:33431434). Cells lacking both yciB and dcrB display pleiotropic defects, including morphological changes, elevated amounts of lipopolysaccharide, membrane vesiculation, reduced proton motive force, accumulation of outer membrane proteins at the inner membrane, and dynamic shrinking and extension of the cytoplasmic membrane accompanied by lysis and cell death (PubMed:30368949). Double mutant also displays a reduction in membrane fluidity and a marked sensitivity to copper ions (PubMed:33431434). It accumulates additional forms of Lpp and shows aberrant localization of Lpp due to inefficient lipid modification at the first step in lipoprotein maturation (PubMed:33431434)
Knockout mice are born at the expected Mendelian ratio and young animals appear phenotypically normal (PubMed:28728022, PubMed:29855382, PubMed:32160553, PubMed:32852886). At 10 weeks of age, knockout mice develop proximal axonal swellings caused by drastically enlarged LAMP1-positive vacuoles (lysosomes/endosomes), increased retrograde axonal transport of lysosomes, and accumulation of lipofuscin and autophagosomes. Giant vacuoles specifically accumulate at the distal end and within the axon initial segment, but not in peripheral nerves or at axon terminals, resulting in an impaired facial-nerve-dependent motor performance (PubMed:32160553, PubMed:32852886). Using a different experimental approach to create the knockout, a more subtle, exclusively lysosomal phenotype is observed. At 2 months of age, numerous lysosomal proteins, including cathepsin B/CTSB, cathepsin L/CTSL, dipeptidyl peptidase 2/DPP7, LAMP1 and vacuolar-type ATPase subunits, are down-regulated and lysosomal acidification is impaired (PubMed:28728022). It has been suggested that these phenotypic differences might be due to incomplete knockout in animals with milder phenotypes (PubMed:32160553). Mice deficient in both PGRN and TMEM106B are born at normal Mendelian frequency and do not show any obvious growth defects or body weight changes. At around 3.5 months of age, the animals develop severe ataxia, hindlimb weakness, reduced motor activity, altered clasping behavior and eventually premature death. Neuronal loss and severe microglia and astrocyte activation are observed in the spinal cord, retina, and brain (PubMed:32761777, PubMed:32852886, PubMed:32929860). Myelin degeneration occurs in the spinal cord (PubMed:32761777). Drastic autophagy and lysosomal abnormalities, as well as other pathological changes related to frontotemporal lobar degeneration (FTLD)/amyotrophic lateral sclerosis are observed (PubMed:32761777, PubMed:32852886, PubMed:32929860). Most studies consistently show that loss of TMEM106B exacerbates lysosome abnormalities found in GRN-single knockout animals, likely contributing to neuronal dysfunction and neuronal death (PubMed:32761777, PubMed:32852886, PubMed:32929860). However, one study reports that the expression levels of most lysosomal proteins are normalized in double knockout mice and comparable to those of wild-type animals and some behavioral phenotypes observed in GRN-single knockout mice, such as locomotor hyperactivity and disinhibition, are rescued in double knockout (PubMed:28728022). TMEM106B knockout does not rescue FTLD-like phenotypes in a mouse model mimicking the toxic gain-of-functions associated with overexpression of hexanucleotide repeat (GGGGCC) expansions in C9ORF72 (PubMed:29855382)
Completely abolishes the production of both novofumigatonin and asnovolin A, but accumulates the tetracyclic intermediate asnovolin I
Induction of dauer formation and larval arrest. Reduced insulin/IGF signaling
Decreases ferricrocin (FC) biosynthesis during iron starvation and completely blocks FC biosynthesis during iron-replete growth (PubMed:21622789). Blocks conidial accumulation of FC-derived hydroxyferricrocin (HFC) under iron-replete conditions, which delays germination and decreases the size of conidia and their resistance to oxidative stress (PubMed:21622789)
Transgenic mice with up-regulated liver canalicular membrane expression of Abcb11 appear healthy and normal and demonstrate any difference in longevity. Transgenic mice exhibit a normal reproductive rate and gender distribution and are born in a normal Mendelian distribution. Transgenic mice have food consumption identical to their background strain controls. Transgenic mice manifest increases of both bile flow and biliary lipid secretion and are resistant to the development of hepatic steatosis (PubMed:14570929). Homozygous Abcb11 knockout mice on a mixed genetic background are viable and fertile, but displayed growth retardation. Their body weight is about 20% lower than their wild-type littermates at weaning (21 days after birth). They tend to have a lower body weight throughout their life, but display only mild non progressive cholestasis (PubMed:11172067). Homozygous Abcb11 knockout mice on a pure C57BL/6J background exhibit a progressive intrahepatic cholestasis due to an hepatic bile acid retention and an alteration of lipid metabolism (PubMed:22619174)
Abolishes the production of arthrobotrisins A to D and arthrosporol A, and leads to the accumulation of 11 new sesquiterpenyl epoxy-cyclohexenoids (SECs) and derivatives with diverse oxidation patterns (PubMed:28692300, PubMed:33823587). Shows substantial reduction in conidiation (PubMed:33823587). Develops far more adhesive trapping devices and traps and increases the number of captured nematodes by the traps (PubMed:33823587). Shows significantly increased ammonia levels in fungal mycelia (PubMed:33823587)
76% embryonic lethal, 24% larval arrest
Mice are born at the expected Mendelian rate and survive until adulthood. They show a normal pancreatic morphology at birth. A 12 weeks, they exhibit a reduction in the proportion of Langerhans islet beta-cells and impaired glucose-stimulated insulin secretion and eventually they develop diabetes mellitus
Grows more slowly and flower earlier than wild-type plants. ABA hyperactivation of stress-inducible genes
Flies exhibit a segment polarity phenotype and altered expression of the wg target genes en and Ubx
Insensitivity to ABA, but hypersensitivity to drought and high salinity stresses. Loss of seed viability over time dur to altered desiccation
Mice display increased cold tolerance, higher oxygen consumption rates, enhanced brown adipose tissue metabolic capacity, maintenance of higher body temperature throughout the light phase and increased glucose uptake only during the day. They also show retinal abnormalities such as pan-retinal spotting and decreased response to light and decreased bile acid accumulation. Double knockout for NR1D1 and PER2 show a significantly shorter period length compared with wild type or single knockouts for both genes. 50% of double knockouts animals show a stable circadian throughout at least 5 weeks in constant darkness. The other 50% of animals lose their circadian rhythmicity when held in constant darkness for an average of 21 days. Animals have blunted steady-state levels of glycogen in the liver in spite of normal patterns of food consumption. Mice show exaggerated pulmonary inflammatory responses (PubMed:29533925). Mice display enhanced spontaneous hippocampal microglial and astrocyte activation, increased microglial NF-kappaB signaling and exacerbated LPS-induced neuroinflammation in the hippocampus (PubMed:30792350). Conditional knockout of both NR1D1 and NR1D2 in bronchiolar epithelial cells abolished diurnal rhythmicity of PER2 in the bronchioles and increased inflammatory responses and chemokine activation (PubMed:29533925)
Mice are developmentally normal and show no apparent anomalies (PubMed:15800626, PubMed:15800627, PubMed:16103352). Mitochondria do not undergo cyclosporin A-sensitive mitochondrial permeability transtition (PubMed:15800626, PubMed:15800627, PubMed:16103352). Cells show resistance to necrotic cell death induced by reactive oxygen species and Ca(2+) overload, and animals show a high level of resistance to ischaemia/reperfusion-induced cardiac injury (PubMed:15800626, PubMed:15800627, PubMed:16103352). Mice show a dramatic reduction in brain infarct size after acute middle cerebral artery occlusion and reperfusion (PubMed:15800626, PubMed:15800627, PubMed:16103352). Mice lacking Slc25a4/Ant1, Slc25a5/Ant2, Slc25a31/Ant4 and Ppif lack Ca(2+)-induced mitochondrial permeability transition pore (mPTP) formation (PubMed:31489369)
Fairly reduces the production of fusarisetin A (PubMed:25770422)
Death at larval stage. Larvae display a motility defect whereby the body wall musculature overcontract radially during the peristaltic wave typical of insect larval motility, apparent as a 'squeezing' of intestine
No visible phenotype (PubMed:12949088). Sensitive to the oxidizing agent menadione in the presence of arsenite ion (PubMed:22304305). Decreased arsenic and chromium accumulation (PubMed:24861149)
Abnormal vacuolar trafficking of soluble cargo proteins, and premature termination of the shoot apical meristem and of floral meristems. Plant missing both AGD5 and MTV1 are severely dwarfed, develop short siliques, exhibit abscission defect, and have altered subcellular distribution of clathrin-coated vesicle (CCV) cargo exported from the trans-Golgi network (TGN)
Arrested embryonic development either at bean or twofold stages with failure of hypodermis to enclose the embryo or at threefold stage with defects in hypodermal cell organization and muscle cell positioning. When disrupted in larvae, causes paralysis and displacement of muscles
Mice embryos exhibit a variety of patterning defects that first appear at 8.0 dpc. Defects include a specific failure in ventralization of the anterior neural plate, loss of heart looping and irregular partitioning of somites. In mutant embryos, Shh expression fails to initiate along the anterior midline at 8.0 dpc, and Fgf8 is delocalized from the anterior neural ridge at 8.5 dpc
White leaves with green islands, giving a variegated appearance. Mutant plants can grow autotrophically on soil
Slightly reduced number of large chloroplasts due to impaired plastid division (PubMed:25731613). Stronger effects on pastid division in the shoot apex, where the proplastid-to-chloroplast transition takes place, than in mature leaves (PubMed:29920253). Increased plastid volume in the shoot apical meristem (SAM), including the central zone as well as peripheral zone of L1, the outermost layer, and the peripheral zone of L3 (PubMed:29920253)
Early production of scent at the end of the light period, associated with an early peak expression during the day of floral volatile benzenoids and phenylpropanoids (FVBP) pathway genes responsible for volatile precursor synthesis (e.g. EOBI, EOBII, ODO1, EPSPS, CM1, ADT, and PAL)
Plants flower early and have a significantly reduced number of juvenile, adult and cauline leaves, with a shorter petiole and a more acute leaf base in the first two leaves
Results in complete loss of glucosylceramides (GluCers) in mutant cells
Inactivation of the gene leads to hydrogen peroxide hypersensitivity
Mutants fail to make pili although synthesize wild-type levels of the pilin subunit PilA
No visible phenotype under normal growth conditions (PubMed:23148213). No visible phenotype under short day (SD) conditions, but early flowering under long day (LD) conditions (PubMed:26296956)
Impairs the production of gibberellins (GAs) and contains ent-kaurene as the only intermediate in the GA biosynthesis pathway (PubMed:11472927)
Cells lacking this gene show a delayed growth on methylmercaptopropionate (MMPA)
Morpholino knockdown of the protein causes pericardial edema and altered cardiac morphology in 4 days post-fertilization (dpf) embryos and severity increases as embryos age. Morrphants are not viable by 7 dpf. Hearts showed abnormal cardiac looping in the morphants and a significant decline in heart beat rates seen in after 4.5 dpf and continue decreasing at 5 and 6 dpf. Ventricles show a significant reduction in amplitude of Ca(2+) transients in morphants between 4 and 6 dpf
Mice die shortly after birth and display a wide variety of phenotypes within the skeletal and hematopoietic systems
Mutant cannot secrete leukotoxin and is more sensitive to clotrimazole, erythromycin, ethidium bromide, cationic detergents, bile-acids, anionic detergents and chloramphenicol
Cells lacking this gene have morphologies and growth phenotypes similar to those of the wild-type strain
Simultaneous knockdown of puf-6 and puf-7 results in ectopic primordial germ cells (PGCs) outside the somatic gonads, premature PGC proliferation in L1 larvae and germ cell death. Does not affect germline development in adult hermaphrodites. Disruption with puf-5 and puf-6 results in abnormally small oocytes, disorganization of oocyte nuclei and cells, inefficient yolk uptake by oocytes, embryonic arrest with impaired eggshell formation and cytokinesis defects, impaired repression of glp-1 in late oogenesis, and mislocalization of rme-2 to the cytoplasm instead of the plasma membrane
Leads to the accumulation of ergosta-8,14-dienol as the major sterol
Anthocyanin accumulation and accelerated senescence (PubMed:17671505). Starch accumulation during phosphate deficiency (PubMed:19211700). Reduced sensitivity to glucose during early development (PubMed:27436712). Increased seed abortion (PubMed:28922765). Blocked autophagy during abiotic stresses but not under control conditions (PubMed:28783755). Enhanced sucrose-induced hypocotyl elongation (PubMed:29584583)
Flies exhibit brain cell metaphases where sister chromatids of all chromosomes are aligned parallel to each other instead of assuming the typical morphology, heterochromatin condensation or chromosome segregation are not affected
Cells lacking this gene grow similarly to wild-type L.pneumophila in both murine bone marrow-derived macrophages and the soil amoeba Dictyostelium discoideum, indicating that SetA is not required for efficient intracellular replication of L.pneumophila in host cells under laboratory growth conditions
Cells lacking this gene display maltose 1-phosphate (M1P) accumulation and trehalose sensitivity. These phenotypes are suppressed in mutants lacking both glgE and treS or both glgE and mak
No visible phenotype. Double knockout with cnnm-3 results in increased levels of intestinal Mg(2+) and reduced levels in other tissues. This Mg(2+) deficiency in tissues leads to a reduced lifespan, 100% sterility, and smaller animals that exhibit a developmental delay with defective gonad development and which therefore do not produce oocytes or form vulva. In addition, the gonad development defect in the cnnm-1 and cnnm-3 double knockout is rescued when the AMPK alpha subunit aak-2 is also knocked out. Quintuple knockout with cnnm-2, cnnm-3, cnnm-4 and cnnm-5 results in a reduced lifespan and 100% sterility
When this gene is missing the Septu type II system does not confer resistance to SpBeta in B.subtilis
Normal morphology in standard conditions. Impaired chitin-induced MAPK activation (e.g. MPK3, MPK4, and MPK6) and altered subsequent disease resistance to A.brassicicola associated with reduced levels of chitin-induced callose deposition
Disruption of mitochondrial function has no effect on the initial stages of photoreceptor development (R cells develop normally, adopt the correct cell fates, innervate the appropriate synaptic partners, and assemble synapses normally). However, beginning around the time of eclosion, R cells degenerate, progressively losing expression of synaptic markers and undergoing extensive morphological changes. Synapse loss is caused by reactive oxygen species (ROS) production, not energy depletion, as photoreceptor ATP levels are normal
Lethality in the pupal stage. Accumulation of neddylated Cul3 and stabilization of the Cul3 adapter protein HIB. Enhances protein degradation of Cubitus interruptus (Ci), suggesting that Cul3-RING ligase activity is enhanced in the absence of Cand1
RNAi-mediated knockdown results in sterility (PubMed:17223323). RNAi-mediated knockdown does not affect the timing of hypodermal and vulval development (PubMed:17223323)
Loss of function of Kif3b only results in ciliogenesis defects in a subset of cilia. Robust cilia are still present in the central nervous system. Mutant have rapid rod degeneration and delayed outer segment genesis, but cones appear normal. The mild phenotype of kif3b mutants may be related to the presence of the kif3c protein
No visible phenotype under normal growth conditions, but enhancement of hypersensitive cell death response upon infection with avirulent pathogen
Deletion mutant provokes rDNA contraction. Simultaneous elimination of slx1 and rqh1 is lethal
Mice display growth retardation and are immune deficient, radiation-sensitive and cancer-prone (PubMed:12640136). Cells show a slight S-phase checkpoint defect and prolonged G2/M arrest after treatment with ionizing radiation (PubMed:12640136). Cells show defects in the DNA damage response (PubMed:12640136). Mice display defects in immunoglobulin class-switch recombination (CSR) during antibody genesis (PubMed:15159415, PubMed:15077110). In contrast, no defects are observed in classic NHEJ and V(D)J recombination (PubMed:15159415)
No visible phenotype except reduced nitrate content and disturbed chloride Cl(-) homeostasis (PubMed:26904077, PubMed:31201341). Lower photosynthetic performance in dark-adapted plants, associated with abnormal shape and associated parameters of the polyphasic OJIP kinetics of chlorophyll a fluorescence induction (PubMed:26904077, PubMed:31201341). Mildly altered size and composition of proton motive force (PMF) (PubMed:26904077). Altered kinetics of state transition and in the macro-organization of photosystem II supercomplexes; phenotypes reversed by potassium chloride (KCl) (PubMed:26904077). Bow-like arrangement of the thylakoid network and large thylakoid-free stromal region in chloroplast from dark-adapted plants (PubMed:26904077). Transiently decreased non-photochemical quenching (NPQ) upon transition from dark to low light (PubMed:31201341). Lower photosynthetic performance and altered NPQ upon transition from dark to low light in clce kea3 and clce vccn1 double mutants, as well as in the clce kea3 vccn1 triple mutant (PubMed:31201341)
Increased numbers of germ cell corpses (PubMed:18425118, PubMed:18923146). Reduced number of gut granules in the adult intestine (PubMed:24501423). Endosome/lysosome fusion defects in coelomocytes (PubMed:26783301). Double knockout with either sorf-1 or sorf-2 results in larger endosomes and larger lysosomes and thus suppresses the endosome/lysosome fusion defects in coelomocytes in the vps-11 single mutant (PubMed:26783301). RNAi-mediated knockdown results in a reduced number of gut granules in embryonic intestinal cells (PubMed:24501423). RNAi-mediated knockdown results in defective endosome maturation with the accumulation of small vesicles near the gut lumen and large endosomes/lysosomes on the basal side of the cell (PubMed:25273556)
Leads to decreased production of asperfuranone (PubMed:19199437)
Viable with no visible defects in development or fertility (PubMed:24374177). Embryos contain an increased number of endosomes (PubMed:25126728). Lysosomes have a reduced capacity to interact with autophagosomes in embryos and furthermore, there is defective autophagosome degradation with an accumulation of lgg-1-positive autophagosomes in 500-cell embryos (PubMed:24374177). Double knockout with rab-7 partially rescues the defective lgg-1- and lgg-2-positive autophagosome degradation defect in the individual rab-7 and lgg-2 single mutants (PubMed:24374177). RNAi-mediated knockdown results in the accumulation of germ cell specific P-granules in somatic cells as indicated by increased numbers of pgl-1 positive granules in embryos (PubMed:19167332). RNAi-mediated knockdown reduces autophagic degradation of membrane pore-forming toxin Cry5B
No aldehyde-stress related phenotype
Loss of extracellular active lipase. Not required for growth on oleic acid as a carbon source
Early flowering phenotype due to reduced histone H3 'Lys-4' trimethylation (H3K4me3) of FLC thus leading to lower FLC expression
Mutant loses its ability to produce rifamycin B, but accumulates 27-O-demethylrifamycin SV (DMRSV) as the major new metabolite, together with a small quantity of 27-O-demethyl-25-O-desacetylrifamycin SV (DMDARSV)
Mutant pups display neural tube defects and don't survive to weaning. During embryogenesis, fail to form the epidermal barrier and exhibit defective neural tube closure and embryonic wound repair. The epidermis show a severe barrier function defect associated with impaired differentiation of the epidermis, including defects of the stratum corneum, extracellular lipid composition and cell adhesion in the granular layer. Embryos have thoracolumbosacral spina bifida and curled tail, and 2% have coincident exencephaly. Embryos are smaller than their control littermates, exhibit failed eyelid fusion, the penetrance of which is influenced by genetic background, and shorter intestine with blood in the lumen (PubMed:14608380, PubMed:16949565, PubMed:21081122). Embryos have oral bilateral epithelial adhesions because of the loss of periderm and a cleft palate in some cases (PubMed:24360809). LMO4:GRHL3 double knockout embryos show significantly more frequent exencephaly than that found in single knockouts. Similarly, open-eye phenotype was more penetrant in double knockout mice. Double mutants show an enhancement of the epidermal terminal differentiation defect (PubMed:16949565)
Worms exhibit resistance to the Cry5B toxin produced by Bacillus thuringiensis. This is thought to be due to mutants having reduced population of glycolipids which are targeted by the Cry5B protein. Mutants also have reduced brood sizes at only 17% of wild-type N2
Deletion of the hipB-hipA operon has no effect on virulence in mouse infection; the disrupted strain is as virulent as wild-type
Leads to an altered morphology of lipid droplets with a smaller size
No visible phenotype under normal growth conditions, but mutant plants show reduced xylan substitution
Delayed senescence and hypersensitivity to ABA during seed germination
Cells lacking this gene are defective for growth with D-threitol
No visible phenotype (PubMed:23283171). Reduced anxiety-like behavior in males (PubMed:23283171). Does not affect long term memory maintenance (PubMed:23283171, PubMed:27187150). However, when the conditions during the establishment of memory are more demanding, spatial long term memory maintenance is slightly affected (PubMed:27187150). Up-regulation of PRKCI/PKCiota protein levels following induction of synaptic long term potentiation abnormally persist. This compensatory mechanism is responsible for the lack of defect in long term memory maintenance in absence of isoform 1 and isoform 2 (PubMed:27187150). Isoform 2: RNAi-mediated knockdown prevents late synaptic long term potentiation and spatial long term memory (PubMed:27187150)
No longer produces the secondary metabolites diacetylphloroglucinol (Phl) or pyoluteorin (2 antifungals) or HCN (PubMed:1311842). No longer protects tobacco plants from attack by the black root rot-causing fungus Thielaviopsis basicola (PubMed:1311842). 50-fold decrease in expression of hcnA (PubMed:10570200). Greatly decreased expression of genes controlled by this two-component system such as aprA, hcnA, phlA and pltA (PubMed:10570200, PubMed:11807065, PubMed:14622422, PubMed:15601712, PubMed:23635605). Loss of expression of small RNAs (sRNA) RsmX, RsmY and RsmZ (PubMed:14622422, PubMed:16286659). Loss of the autoinducing signal (which is unrelated to N-acylhomoserine lactones and induces the Gac/Csr cascade) (PubMed:16286659). Its deletion is suppressed by overexpression of sRNAs RsmZ, RsmY or by RsmX (PubMed:11807065, PubMed:14622422, PubMed:16286659). Decreased expression of translational regulators CsrA1 (rsmE) and CsrA2 (rsmA) (PubMed:15601712)
Embryonic lethal at 11.5 dpc
RNAi-mediated knockdown causes no defect in the growth of the bloodstream stage form (PubMed:16507595). Simultaneous RNAi-mediated knockdown of MCA2, MCA3 and MCA5 in the bloodstream stage form causes a growth arrest resulting from a block prior to cytokinesis; DNA replication and mitosis are normal (PubMed:16507595). Has no effect on VSG protein recycling (PubMed:16507595). Triple knockout of MCA2, MCA3 and MCA5 in the bloodstream form causes an initial slower growth rate in vitro which reaches wild-type levels after several weeks of culture (PubMed:16507595). Triple knockouts have a normal growth rate and virulence in infected mice (PubMed:16507595)
Compromised basal resistance and systemic acquired resistance (SAR) induced by Pseudomonas syringae p.v. maculicola ES4326 toward Hyaloperonospora arabidopsidis Noco2. Plants lacking both SARD1 and CBP60G fail to accumulate salicylic acid (SA) and to express PR1 and SID2 upon both biotic and abiotic stresses
Male mice are sterile, exhibit a complete arrest in round spermatids and fail to produce sperm
Cells lacking this gene show a lack of cardiolipin (PubMed:14973018). Cells appear normal, no effect on flotillin cluster numbers or size (PubMed:27362352)
Single deletion mutant (probably without MRA_1419) has decreased surface-exposed glycolipid lipoarabinomannan (LAM), although cellular LAM, LM and PIM content is normal (PubMed:25356793)
Delayed senescence
Mutant embryos show Nanos mislocalization and thus bicaudal development (PubMed:2590944). RNAi-mediated knockdown results in sterility and egg chamber defects including loss of annulate lamellae (PubMed:31626769)
Worms exhibit abnormal locomotion
Null mutant is very sensitive to manganese
No effect on the regulation of core clock associated genes or on the hypocotyl length. Rve1, rve2 and rve7 triple mutant has no alteration in the period or phase of the clock
Deletion has no detectable effect on the T6SS-mediated secretion of VgrG1a/c, Hcp1 or Tse3
No visible non-photochemical quenching (NPQ) phenotype (PubMed:25342550). Plants missing both PSBS1 and PSBS2 exhibit a decreased light-inducible portion of thermal dissipation (TD), including energy quenching (qE)-associated TD (qE-TD) (PubMed:21873330, PubMed:24850835). Plants missing both PSBS1 and PSBS2 have a higher quantum yield of electron transport upon the transition from high light to low light, but a lower quantum yield of electron transport II upon the transition from low light to high light (PubMed:24850835)
Mice are viable and fertile but develop chronic myelomonocytic leukemia probably caused by dysregulation of hematopoietic stem cells. Mice lacking both Tet1 and Tet2 are fertile, with females having smaller ovaries and reduced fertility. They display decreased 5-hydroxymethylcytosine (5hmC) and abnormal methylation at various imprinted loci. Embryonic stem cells lacking both Tet1 and Tet2 remain pluripotent but lack 5hmC, leading to developmental defects in chimeric embryos
Abnormal nucleosome distribution (PubMed:26582768). Decreases level of clr4 at the subtelomeric and pericentromeric regions and at DSR (determinant of selective removal) islands containing meiotic genes; decreases di- and tri-methylation of histone H3 'Lys-9' at these regions (PubMed:32269268). Abnormal heterochromatin formation at the pericentromeric outer and inner repeat regions, the subtelomeric region, and the silenced mating-type locus (PubMed:26582768, PubMed:32269268). Impairs centromere function; leads to abnormal mitotic and meiotic chromosome segregation and sensitivity to thiabendazole (spindle poison) (PubMed:26582768). Decreases silencing of subtelomeric regions, including Tf2-type retrotransposons (PubMed:26582768, PubMed:32269268). Decreases histone H3 and H2A protein levels (PubMed:26582768). Abnormal transcription resulting in increased levels of cryptic transcripts (PubMed:26582768). Increases transcript levels of genes involved in the stress response (PubMed:26582768). Sensitive to methyl methanesulfonate (DNA damaging agent); double-knockout with nhp6, or triple-knockout with hht2 and hhf2 exacerbates the effect (PubMed:26582768). Sensitive to heat and cold; double-knockout with nhp6, clr3, clr4, or swi6, or triple-knockout with hht2 and hhf2 exacerbates the effect (PubMed:26582768, PubMed:32269268). Decreases cell viability and leads to slow cell population growth with elongated cells; double-knockout with clr4 or swi6 exacerbates the effect (PubMed:26582768, PubMed:32269268). Double knockout with abo2 results in lethality (PubMed:26582768)
Abolishes the production of endocrocin (PubMed:22492455)
No visible phenotype under normal growth conditions (PubMed:19675148, PubMed:28585562). The triple mutant lrl1, lrl2 and lrl3 exhibit very short root hairs (PubMed:19675148). The double mutant drop1 and drop2 fail to develop sperm cells (PubMed:28585562)
Conditional knockdown causes loss of cell growth and severely impairs merozoite invasion of erythrocytes. Attachment to and deformation of erythrocyte membrane is normal, however the subsequent step, which triggers an increase in Ca(2+) from the attached merozoite into the erythrocyte, is impaired
Disruption of the columnar arrangement of neurons in the optic tectum and defective visually guided behaviors (PubMed:26598617). Increased spontaneous firing activity in the larval optic tectum (PubMed:35460869). Morpholino knockdown results in aberrant early brain morphogenesis due to disrupted cell convergence in the anterior neural plate with mutants showing an abnormally wide neural plate (PubMed:19615992, PubMed:21115806). Mutants show impaired directedness of cell movements and impaired coherence of movements among neighboring cells (PubMed:21115806)
No visible phenotype under normal growth conditions, but mutant plants show decreased abscisic acid (ABA)-induced inhibition of root growth and seed dormancy, and enhanced ABA-mediated stomatal closure
Hens express reduced levels of SH3GL3 in ovarian follicles prior to uptake of yolk proteins
Deletion mutant is fully chemotactic and forms swarms the same way as wild-type strain (PubMed:11535789). Mutant appears however to change direction frequently and shows defects in mouse colonization (PubMed:19332820)
The most common abnormalities observed at 3 days post-fertilization are microphthalmia, microcephaly, pericardial edema, delayed jaw formation, a reduced overall body size, and a general developmental delay. Further characterization revealed that the rab18b morphants have delayed retinal development and abnormal retinal lamination, residual nucleated lens fiber cells, widely open choroid fissure, and microphthalmia at day 3
Results in an 18% decrease in isoamyl acetate formation and causes a 13% reduction of ethyl acetate formation (PubMed:12957907). Leads to the complete elimination of acetyl-CoA:pregnenolone acetyltransferase activity and consequently abolishes the esterification of pregnenolone and increases the toxicity of pregnenolone (PubMed:10103065)
Male sterility due to defect in anther dehiscence and mature pollen grain release at anthesis
No visible phenotype. In a zig-8 mutant background, 74 percent of animals have cell bodies of ASI and ASH head neurons displaced either on the top of or anterior to the nerve ring. In addition, double mutants show defects in the positioning of the ventral nerve cord (VNC) axons characterized by axons of embryonically generated PVQ, PVP and HSN neurons from the left and right VNC drifting into the opposite cord (axon flip-over). Both defects begin at the L3 larval stage and become more pronounced at the L4 larval and adult stages. Cell body and axon positioning is normal in embryos and in L1 larvae. In a zig-1, zig-2, zig-3 or zig-4 mutant background, cell body positioning of ASI and ASH head neurons is normal. In unc-13 or unc-54 mutant background, where locomotion is impaired, cell body positioning of ASI and ASH neurons is normal. In a sax-7 (nj53) mutant background, cell body and axon positioning is normal. Simultaneous RNAi-mediated knockdown of zig-5 and zig-8 at the embryonic, larval or adult stage causes a displacement of ASI and ASH head neurons in 6 to 9 percent of animals
Mice die at around embryonic 7 days post-coitum (dpc). Conditional knockout mice in the hematopoeitic system leads to hemolytic anemia, a reduction in blood platelet and erythroblast development (PubMed:22422825). Cardiac progenitor-cell-specific knockout mice die around 12.5 dpc and lead to abnormal cardiovascular development with a reduction in cardiomyocyte proliferation. Mice display increased NKX2-5 mRNA but decreased NKX2-5 protein levels, respectively, in the heart at 12.5 dpc compared to wild-type mice (PubMed:26489465). Male germ-cell-specific knockout mice lead to testicular hypoplasia development, due to spermatogonia differentiation block, meiosis initiation arrest as early as meiosis I stage and an absence of mature sperm in the epididymis (PubMed:25611385). Mice show several alteration in meiosis-related gene expression such as the differentiating spermatogonia markers KIT/c-kit (PubMed:25611385)
Impairs growth and peroxisome formation in oleic acid medium
Increased levels of JMJ20 and JMJ22 in far-red (FR) conditions
Male sterility due to failure of tapetum to differentiate and pollen to mature
Disruption of the gene does not affect the growth rate, but mutant shows decreased resistance to ethambutol and streptomycin
Mice exhibit low expression of KLRK1 in NK cells, but no expression in resting T-cells. KLRK1 expression is not induced upon T-cell activation, while it is up-regulated in activated NK cells; NK cells promote KLRK1-mediated tumor rejection due to substitution of HCST by DAP12/TYROBP. Mice lacking HCST exhibit antitumor phenotype; they show enhanced immunity against melanoma malignancies due to hyperactive functioning of a group of T-cells that share properties of both T-cells and NK cells (NKT cells). NKT cells exhibit increased cytokine production and cytotoxicity, leading to efficient killing of melanoma tumors. Upon activation, T regulatory cells (Tregs) maintain higher levels of IL2 and produced significantly lower amounts of IL10 and IFN-gamma cytokines. NKT cells activated by IL2 efficiently lyse B16-melanoma tumors in vitro in an KLRK1-independent way; The hyperactivity of NKT cells in these mice is not related to signaling of KLRK1
Reduced numbers of pneumococci relative to wild-type 48 hours post-infection in the lungs and blood of the mouse infection model confirming a role for this protein in invasive disease
Abolished ability to grow on starch
100-fold reduction of starch-bound GBSS1 protein and production of amylose-free starch
No visible phenotype (PubMed:19590012). Viable but highly susceptible to septic injury with Gram-positive bacteria and fungi (PubMed:19590012, PubMed:24794300). Adults infected with Gram-positive bacteria E.faecalis and L.monocytogenes rapidly succumb to infection (PubMed:19590012), and display reduced expression of the antimicrobial peptide gene Drs in response to septic injury with the Gram-positive bacteria M.luteus and E.faecalis and also after injection with their purified peptidoglycans (PubMed:19590012). Adults infected with C.albicans display a severe reduction in survival after infection, and show reduced expression of Drs in response to septic injury with living C.albicans and after injection with dead C.albicans (PubMed:19590012). Moderate reduction in survival and Drs expression after infection with A.fumigatus spores (PubMed:19590012). Stage 15 embryos also display reduced survival and Drs expression after injection with M.luteus and a moderate decrease in survival after injection with proteases from the fungus A.oryzae (PubMed:24794300). No effect on survival after septic injury with the Gram-negative bacteria E.carotovora (PubMed:19590012). In adults, no effect on Drs expression after injection of proteases derived from the fungi A.oryzae and B.subtilis (PubMed:19590012). In embryos, no effect on survival or expression of the antimicrobial peptide DptA after infection with the Gram-negative bacteria Ecc15 (PubMed:24794300)
Morphants exhibit leaner bodies, smaller eyes, and pericardial edema. At 3 dpf morphants show reduced birefringence in axial skeletal muscles suggesting disorganized skeletal muscle structure
Completely inhibits the development of conidia and infection structures, and significantly affects noxR expression (PubMed:26527167). Leads to the loss of its ability to cause disease on tomato leaves, whereas it can still cause lesions on both tomato and strawberry fruits, but the diameter of the lesion is significantly reduced (PubMed:26527167)
Embryonic death and abnormal oocytes
Disruption confers resistance to cellular contact-dependent growth inhibition (CDI) CdiA-2 of B.pseudomallei strain 1026b, but not to endogenous CdiA. Alters lipopolysaccharide structure, decreased binding to B.pseudomallei strain 1026b inhibitor cells
No obvious phenotype (PubMed:20807527). RNAi-mediated knockdown results in no obvious phenotype (PubMed:18448117). Following infection with P.aeruginosa, RNAi-mediated knockdown results in reduced survival and slight intestinal distension (PubMed:21168435). Double mutation with elt-2 results in arrest at the L1 stage of larval development, reduced expression of gut-specific genes and a severe disruption to normal gut differentiation with the absence of birefringent and rhabditin granules, which are characteristic of normal gut differentiation, largely at the regions of the cell that interface with the pharyngeal and rectal valves (PubMed:20807527). These mutants also have essentially no gut lumen, with only infrequent patches of lumen and brush border in few animals, and reduced gut epithelialization as indicated by reduced expression of epithelial markers erm-1b, itx-1 and ajm-1 (PubMed:20807527)
Morpholino knockdown results in embryos which show normal gross morphological development, including of heart and skeletal muscle (PubMed:27377701). However, an increased expression of genes related to both primitive and definitive hematopoiesis is seen (PubMed:27377701)
No visible phenotype under normal growth conditions, but plants have increased sensitivity to nickel when grown in an iron-deficient environment
Causes decreased production of triacetylfusarinine C (TAFC) but not fusarinine C (FsC) (PubMed:21062375). Attenuates virulence in a murine model of invasive aspergillosis (PubMed:21062375). Also increases zinc sensitivity (PubMed:21062375)
Gametophytic lethal in homozygote plants (PubMed:22307646). The double mutant syp41 syp42 have short roots (PubMed:22307646). Plants lacking the three genes SYP41 SYP42 and SYP43 are seedling lethals (PubMed:22307646)
RNAi-mediated knockdown results in embryonic lethality in 57% of animals, and of the surviving progeny, there is a 6% increase in the number of males (Him phenotype) (PubMed:18923084). Defective sister chromatid cohesion during meiosis and mitosis (PubMed:18923084, PubMed:22927794). Mis-localized air-2 in oocytes at the diakinesis phase of prophase I in meiosis (PubMed:18923084, PubMed:22927794). Impaired meiotic DNA double-strand break repair as evidenced by increased rad-51 positive nuclei throughout late pachytene to early diplotene in gonads, and impaired number of crossover recombination events between chromatids (PubMed:22927794). Absent syp-1, a core component of the synaptonemal complex, at the pachytene stage of meiosis (PubMed:22927794). Reduced expression of the gsp-2 phosphatase (PubMed:30921322)
Cells lacking this gene are considerably less resistant to lysozyme than wild-type, and show an absence or significantly reduced amount of N-deacetylated muropeptides in the bacterial PG. Mutant strains also have attenuated ability to colonize mouse stomachs, and induce a stronger immune response in the host. Disruption of this gene does not affect oxidative stress resistance characteristics, indicating that the major physiological role of the enzyme is not in combating oxidative stress
Leads to reduced cell size and to sensitivity to rapamycin, caffeine and sodium dodecyl sulfate. Attenuates the virulence of in a mouse model of systemic candidiasis
Mutant mice present no obvious neurological phenotype and have normal nerve conduction. Nerves from their peripheral nervous system have myelin sheets that are indistinguishable from wild-type. In contrast, they present impaired and disorganized attachment of Schwann cell microvilli to the axolemma at nodes of Ranvier. Mature nodes are formed by the fusion of two heminodes. During development, mutant mice present defective clustering of sodium channels at heminodes, but display normal sodium channel clustering at mature nodes (PubMed:20188654). Mice lacking both Gldn and Nrcam are born at the expected Mendelian rate, but are smaller than control littermates and display important neurological impairments, in spite of seemingly normal nerve myelination. Motor abnormalities vary between individuals, ranging from ataxia, uncoordinated movements and premature death to weakness of the hind limbs, hypomotility, strongly impaired ability to hang from a horizontal bar with their forelimbs and a tendency to stumble. The motor defects correlate with decreased velocity of nerve conduction and slower propagation of action potentials. Most mice die within 60 days after birth, and none are fertile. Mutant mice display delayed formation of mature nodes of Ranvier; 15 days after birth about 20% of the nodes lack detectable sodium channel clusters. Sodium channel clustering and nerve conduction appear normal 60 and 75 days after birth, but subsequently a gradual disintegration of the nodal protein complexes is seen. About 70% of the mutant nodes present high-density sodium channel clustering at 120 days after birth, as opposed to nearly 100% for wild-type. Contrary to wild-type, in adult nodes of Ranvier the sodium channels are often clustered near the paranode border with an empty gap in the middle. At nodes of Ranvier, Schwann cell microvilli are sparse or absent and show defects in their orientation, resulting in various structural abnormalities at the node and the paranode border (PubMed:24719088)
Embryo lethality when homozygous (PubMed:20118203, PubMed:21423667). Eearly flowering (PubMed:23284292). Slightly lower ATX1 occupancy at the 5'-end regions of the target genes (PubMed:23284292). Decreased TATA-binding protein (TBP) levels lower Ser5P Pol II levels near the transcription start sites (TSSs) of target genes and of Pol II at the genes 3'-ends thus affecting the transition from transcription initiation to transcription elongation (PubMed:23284292). Significantly reduced trimethylated 'Lys-4' of histone H3 (H3K4me3) levels at the 5'-ends of WRKY70 and LTP7 genes leading to reduced transcript accumulation (PubMed:23284292)
Slow vegetative growth at 37 degrees Celsius, impaired growth at 22 degrees Celsius (PubMed:16861794) and 16 degrees Celsius (PubMed:23175651). Another report shows no growth difference at 15 degrees Celsius (PubMed:16352840). The presence of CshA or CshB is essential for viability; in a cshA disruption mutant further depletion of cshB stops growth after 1 cell duplication (PubMed:16352840). Others show a quadruple disruption of all RNA helicases (cshA, cshB, deaD, yfmL) was not lethal at 37 degrees Celsius, although both 50S and 70S ribosomes are decreased, growth stops at 16 degrees (PubMed:23175651). At 20 degrees Celsius cells are elongated and wrinkled, with smaller cell diameter and thickened walls, and decreased amounts of 70S and 50S ribosomes; levels of over 200 transcripts are altered (PubMed:23175651)
RNAi-mediated knockdown results in nearly absent pupariation and reduced ecdysteroid peak level required to proceed to pupal stage (PubMed:25628335). RNAi-mediated knockdown in the prothoracic gland results in delayed or absent pupariation (PubMed:25628335)
Cells lacking this gene do not produce 4-aminobenzoate
Leads to the accumulation of dihydrosorbicillinol as well as to higher amounts of oxosorbicillinol (PubMed:29104566)
No phenotype, probably due to redundant function of paralogs
No visible phenotype when grown under normal conditions (PubMed:16384909). No effect on root hair patterning or root hair growth (PubMed:16384909). No effect on the concentration of phospholipids and galactolipids in phosphorus-starved roots (PubMed:16891548). Pldzeta1 and pldzeta2 double mutants show a smaller decrease in phosphatidylcholine and a smaller increase in digalactosyldiacylglycerol in phosphorus-starved roots (PubMed:16891548). Pldzeta1 and pldzeta2 double mutants show reduced primary root elongation and increased lateral root elongation under low-phosphate conditions (PubMed:16384909)
RNAi-mediated knockdown in a vab-10(e698) mutant background causes 45 percent embryonic lethality. In the surviving animals, causes a 14 percent larval lethality associated with the detachment of muscles from the epidermis
Response of sacculus neurons to changes in humidity is abolished and consequently larvae fail to move towards their preferred humidity
Rolled inward leaves like a cylinder at mature stage (PubMed:18594992). Narrow, extremely rolled and dark-green leaves (PubMed:19304938). Malformed spikelets with low seed sets (PubMed:18594992). Slight delay in heading date (PubMed:18594992). Disordered and irregular arrangement of chloroplast grana lamellae (PubMed:18594992). Abnormal sclerenchymatous cell development in the abaxial cell layers, altered mesophyll cell distribution, increased amounts of chlorophyll, and enhanced photosynthesis (PubMed:19304938). Altered seed morphology, and reduced root number and root length (PubMed:19304938)
Abnormal hypocotyl elongation under continuous red light
Increased production of thailandamide. Inhibits growth of Salmonella in an overlay assay
Defective lipophosphoglycan synthesis and reduced levels of the surface glycoproteins gp46 and gp63
Reduced arogenate dehydratase activity leading to lower levels of phenylalanine (Phe) and downstream phenylpropanoid/benzenoid volatiles (PubMed:20215586). Petals accumulate unaltered arogenate levels but decreased shikimate and tryptophan (Trp) levels associated with the down-regulation of carbon flux toward shikimic acid (PubMed:20215586)
Knockout in a CDPK1 T145M mutant background causes a reduced asexual growth due to a defect in invasion of host erythrocytes (PubMed:29311293). During gametogenesis, female gametocytes fail to round up upon induction and fail to exit host erythrocytes (PubMed:29311293). Male gametocytes round up normally after induction but fail to exflagellate, to form flagella and to exit host erythrocytes (PubMed:29311293). In mature schizonts, raf kinase inhibitor RKIP mRNA is up-regulated as well as several mRNAs involved in parasite sexual development (PubMed:29311293)
Abnormal localization of atg43 to the outer mitochondrial membrane (PubMed:33138913). Severely decreases vegetative cell population growth (PubMed:33138913)
Loss of ER bodies accumulation in all parts of the seedling and alteration of PYK10 localization
Single deletion of fRMsr has complete growth inhibition on methionine-R-sulfoxide medium and fRMsr and MXR1 double deletion completely blocks the growth on both methionine-R-sulfoxide and methionine-S-sulfoxide medium. FRMsr and MXR2 double deletion has no effect on growth on methionine-S-sulfoxide medium. Single mutant or any of the double mutants show no growth defects in methionine medium, even the fRMsr, MXR1 and MXR2 triple deletion mutant is viable and grows similarly to wild-type. Single deletion of fRMsr has an increased sensitivity to oxidative stress and a decreased life span of 18% compared to wild-type. FRMsr and MXR1, as well as fRMsr and MXR2 double mutants, and fRMsr, MXR1 and MXR2 triple mutant show 20% reduction in life span compared with wild-type cells
No change in function or assembly of the cytochrome bd-I complex
Cells lacking this gene show no phenotypes, however, N-trichloromethyl-mercapto-4-cyclohexene-1,2-dicarboximide and 8-hydroxyquinoline significantly inhibit the growth of the wrbA knockout relative to the wild-type, which is consistent with a role for WrbA in protecting against environmental stressors through its quinone reductase activity
Impairs the production of chaetoglobosin A but leads to the accumulation of prochaetoglobosin IV (PubMed:23611317)
No visible phenotype; due to the redundancy with GXM1 and GXM3. Gxm2 and gxm3 double mutants show reduced stem mechanical strength
Flies exhibit 3 distinct syndromes of myofibrillar abnormalities; elimination of thin filaments except where they are bound by electron-dense material presumed to be Z-disk proteins, degeneration of muscles and reduction in the diameter of the myofibril lattice
Mice exhibit no difference in leukocyte development and subset representation in lymphoid organs (PubMed:27288407). No effect on B cell mediated activation of antigen-specific T cells and MHCII glycoprotein downstream signaling in B cells (PubMed:27288407). In dendritic cells, mutants show decreased cytokine production beyond 24 hours after stimulation of CLEC7A signaling (PubMed:27288407)
Cells lacking this gene are unable to grow on fructose. Growth on glucose is unaffected
Embryonic lethal, with no survival beyond embryonic stage E5.5. Blastocysts fail to hatch and there is significant apoptosis of the trophectoderm. Cell proliferation may also be impaired. Blastocysts at stage E3.5 appear to have normal morphology
Mice have defects in formation of corpus callosum and show degeneration of substantia gelatinosa lamina II axons in adulthood. They have normal lymphoid development but show hyperproliferation of T-cells in response to mitogens
Developmental delays and premature female germline stem cell attrition, reduced fecundity, associated with a dramatic extension of lifespan that is reversed with an antioxidant diet
Knockout mutant can grow only in a minimal medium supplemented with niacin (nicotinamide or nicotinic acid)
Morphants at 48 hpf display body curvature defects, impaired brain development, and motor neuron defects with abnormal development of axons and decreased arborization. Morphant embryos and larvae have decreased locomotor activity compared to wild-type
Animals show longer circadian periods. Double knockouts of CRY1 and CRY2 show slightly decrease body weight and lose the cycling rhythmicity of feeding behavior, energy expenditure and glucocorticorids expression. Glucose homeostasis is severely disrupted and animals exhibit elevated blood glucose in response to acute feeding after an overnight fast as well as severely impaired glucose clearance in a glucose tolerance test. When challenged with high-fat diet, animals rapidly gain weight and surpass that of wild-type mice, despite displaying hypophagia. They exhibit hyperinsulinemia and selective insulin resistance in the liver and muscle but show high insulin sensitivity in adipose tissue and consequent increased lipid uptake. Mice display enlarged gonadal, subcutaneous and perirenal fat deposits with adipocyte hypertrophy and increased lipied accumulation in liver. Mice show attentuated circadian rhythms in photopic ERG b-wave amplitudes (PubMed:29561690). Both single CRY1 knockout and double CRY1 and CRY2 knockout mice show increased exercise performance and increased mitochondrial reserve capacity in primary myotubes (PubMed:28683290)
Does not lead to any apparent phenotypic modification, including no change in the photoinduction of carotenoid biosynthesis
Null mutant produces no detectable CSF activity, but null mutation has modest effects on competence gene expression (PubMed:8769645). Deletion of the gene results in decreased expression of genes activated by ComA, and significantly changes the expression of 66 operons (PubMed:16816200). In non-domesticated strains, the mutant is blocked early in swarming, forming stunted dendrites, with abnormal dendrite initiation morphology (PubMed:19202088). Mutant exhibits a specific migration defect that cannot be trans-complemented by CSF in a mixed swarm (PubMed:19202088)
Abnormal sexual reproduction; decreases MFalpha1 expression and abolishes basidiospore chain formation (PubMed:27611567, PubMed:31681631). Decreases virulence in a mouse intranasal inhalation model for pulmonary infection; virulence is completely lost in a double knockout with CRZ1 (PubMed:27611567). Resistance to high temperature; resistance is suppressed in a double knockout with CRZ1 (PubMed:27611567, PubMed:31681631). Resistance to tacrolimus (calcineurin inhibitor) (PubMed:27611567). Resistance to dithiothreitol (ER stress inducer) (PubMed:27611567). Resistance to tunicamycin (ER stress inducer) (PubMed:27611567)
Males are infertile due to a reduction in sperm count and defective sperm motility. Sperm axonemes have shortened microtubule doublet 7 and reduced tubulin polyglutamylation, in particular of doublet 5. Reduced sperm motility is caused by frequent stalls of flagella due to defective switching in the bending direction
Mutant mice developed dilated cardiomyopathy with hypertrophy and heart failure after birth. Ultrastructural analysis revealed a dramatic disruption of cardiomyocyte cytoarchitecture. At birth, these hearts are not hypertrophic, but already abnormally soft, with cell-autonomous and Csrp3-sensitive alterations in cytoarchitecture. The morphological, functional, and molecular features of the cardiac phenotype in mutant adult mice are undistinguishable from those seen in human heart failure resulting from dilated cardiomyopathy of various etiolologies, these mice can thus be used as model. Heterozygous mice display a more pronounced left ventricular dilation and systolic dysfunction and decreased survival after myocardial infarction
Inactivation of kdpE results in decreased transcript level of cap
Abolishes the production of all prenylated paspalitrems, but accumulates paspalinine and small quantities of paspaline (PubMed:32077051). Simultaneous disruption of idtB, idtC, idtF and idtG eliminates the biosynthesis of the whole spectrum of indole-diterpenes reported to be produced by C.paspali, including paspaline, paxilline, paspalinine, paspalitrem A and paspalitrem B (PubMed:29457197)
Embryonic lethal. Mice develop an inflammatory disease with characteristics of human systemic lupus erythematosus (SLE), including the appearance of immature granulocytes in the peripheral blood and development of autoreactive antibodies and glomerulonephrititis
Disrupted perianth development, particularly petal initiation and orientation, sometimes leading to petal fusion
No visible phenotype. Mice are born at the expected Mendelian rate, are fertile and have a normal life span. Mutant embryos show a delay in the development of the primary ossification centers. Besides, they display an increased length of the growth plates of the long bones from the hind limbs (PubMed:15563592). Three week old mutant mice display an increased trabecular bone volume due to an increase in the length of the hypertrophic chondrocyte zone of the growth plate. This phenotype persists during several months (PubMed:15563592, PubMed:15539485), but one year old mutant mice display no longer any difference relative to wild-type (PubMed:15539485). After bone fractures, mutant mice show delays in carticage remodeling and resorption, as well as an increased volume of spongy bone mass. In addition, mutant mice show delayed healing of cutaneous wounds that is most evident three to seven days after wounding. The delay in wound healing and in re-epithelialization is exacerbated in mice lacking both Mmp13 and Mmp9
Mice show abnormalities in proliferating haemopoietic organs, such as dyshematopoiesis, defect in lymphopoiesis, and delayed S-phase and G2/M-phase arrest
Impairs the production of monodictyphenone and any of the intermediates of the pathway (PubMed:20139316, PubMed:21351751)
Death before implantation of the embryo
Deletion does not result in any obvious growth or division defects
Cells lacking this gene show normal growth and sporulation
Cells have a decreased extracellular and increased intracellular concentration of AI-2. Deletion of tqsA results in a 7000-fold increase in biofilm thickness and 574-fold increase in biomass in flow cells. Deletion of tqsA increases cell motility by increasing transcription of flagellar genes. The tqsA deletion mutant shows higher resistance toward crystal violet, spectinomycin, streptomycin sulfate, 2,6-dichloroquinone-4-chloroimide, chloramphenicol and amoxicillin
Enhanced ethylene sensitivity
Failure of both actomyosin ring constriction and furrow ingression in male meiotic cells
Reduced number of primary rachis branches (PRBs) and of the number of grains per panicle, thus leading to reduced grain yield
Spores lacking this gene fail to germinate in the presence of peptidoglycan fragments
No visible phenotype (PubMed:14871303). Impaired developmental regulatory activity (PubMed:14871303)
Premature termination of the floral meristem
Dwarf phenotype and shriveled infertile grains
Leads to considerable chemotaxis defects, including poorer directionality, more directional changes, and slower speed (PubMed:27237792). Exhibits impaired crown formation and particularly retraction, resulting in more crowns (macropinocytic cups) per cell and longer crown lifetimes (PubMed:28778987). Leads to defects in macropinocytosis, phagocytosis and cytokinesis (PubMed:28778987). Leads to increased level of F-actin as well as to flatter and more polarized cells during vegetative growth (PubMed:28778987)
Reduced growth in both high and low K(+) conditions. Slower germination and increased sensitivity to abscisic acid. Reduction of the total tonoplast current density
Mutant exhibits increased resistance to D-cycloserine when grown in a minimal medium, but no change in D-cycloserine sensitivity compared to its parental strain when grown in a complex medium
Makes pentaacylated lipid A rather than the usual hexaacylated lipid A
Coelomocytes contain larger early and late endosomes enriched with PtdIns3P. Delayed conversion of early endosomes to late endosomes with early endosomes retaining PtdInsP3 for a longer duration of time which may possibly be due to a delay in either the turnover or transport of PtdIns3P out of the endosome. This leads to continuous fusion of early endosomes which continues until rab-5 is displaced and rab-7 is recruited. Double knockout with sorf-2 results in a similar phenotype as the individual single sorf-1 knockout. Double knockout with bec-1 results in smaller endosomes and an irregular distribution pattern of PtdIns3P in the cytoplasm. Double knockout with vps-11, vps-18 or vps-39, subunits of the CORVET/HOPS complex, results in larger endosomes and larger lysosomes and thus suppresses the endosome/lysosome fusion defects in coelomocytes of the individual vps-11, vps-18 and vps-39 single mutants. Likewise, RNAi-mediated knockdown in a vps-41 mutant background (a subunit of the CORVET/HOPS complex) also suppresses the endosome/lysosome fusion defects in the vps-41 single mutant. However, double knockout with the CORVET/HOPS complex subunits vps-16 or vps-33.1, does not suppress the endosome/lysosome fusion defects in coelomocytes of the individual vps-16 and vps-33.1 single mutants. Double knockout with proteins involved in rab-5 to rab-7 switching in early to late endosome conversion such as rab-7, sand-1 and tbc-2 results in enlarged vacuoles, delayed endosomal cargo transport and persistent PtdIns3P in early endosomes in coelomocytes
Cells lacking this gene show a reduction in the capacity to infect and survive in macrophages. Moreover, mice infected with this mutant are able to reduce the bacterial load much more effectively than mice infected with the parental wild-type bacteria
At 2 dpf, morphants are morphologically normal but show pericardial edema and tail curvature. They exhibit near complete paralysis at embryonic and larval stages, producing extremely low levels of spontaneous coiling movements and a greatly diminished touch response. They show a severe disorganization of the contractile apparatus in muscle fibers. Sarcomeric structures in mutants are almost entirely absent and only rare triads are observed
SclA and SclB double mutants show arrhythmic cardiac contractions and correspondingly, cardiac cells show irregular action potentials (APs), involving double and occasionally failed APs. Calcium transients in these mutants show higher amplitudes and steeper decay than those in wild type flies
Cells lacking this gene show reduced bacilysin biosynthetic activity
Viable but lifespan is reduced and males are sterile. Mitochondrial proteostasis is disrupted leading to crista disorganization, mitochondrial unfolded protein stress and impaired complex I activity which increases levels of reactive oxygen species (ROS). These defects all likely contribute to the increase in Dronc-mediated apoptosis in neuromuscular tissue. The severity of the mitochondrial abnormalities and their resulting phenotypes increase with age, resulting in the progressive degeneration of photoreceptor neurons and locomotor activity and increased sensitivity to genetic and environmental stresses
Renal afferent arteriole (Af-art) of the Dicer-substrate short interfering RNA (DsiRNA) knockdown rats dilates instead of constricts as the wild-type vessel in response to an elevation in perfusion pressure. Knockdown results in impaired myogenic response in the middle cerebral artery (MCA), but vasoconstrictor response to serotonin is not affected in the presence of iberiotoxin (IBTX). Knockdown has no effect on the vasoconstrictor response of the renal Af-art to norepinephrine. Smooth muscle cells isolated from the renal microvessels or MCAs of the knockdown rats have higher peak potassium currents than the wild-type cells. A significantly higher level of IBTX-sensitive peak potassium current densities are detected in smooth muscle cells of the cerebral microvessels of the knockdown rats (PubMed:27927653). Knockout rats have elevated iberiotoxin-sensitive potassium (BK) channel current in renal vascular smooth muscle cells (VSMCs) and exhibit impairments in the myogenic response of Af-arts (PubMed:32029431). Renal blood flow (RBF) autoregulation is also impaired (PubMed:32830539, PubMed:32029431). Knockout rats have decreased glomerular capillary pressure in response to elevated blood pressure. After 1 week of DOCA-salt induced hypertension the glomerular filtration rate (GFR) increases and glomerular nephrin expression decreases while they remain unchanged in wild-type rats. Myogenic response is impaired in interlobular arteries of the knockout rats. Proteinuria, glomerulosclerosis and renal interstitial fibrosis are more pronounced in knockout rats after 3 weeks of hypertension compared to wild-type rats. Expression of macrophage-related proinflammatory cytokines, infiltrating CD68(+) macrophages and the markers of epithelial mesenchymal transition increase after hypertension. These alterations in hypertensive knockout rats lead to increased transmission of pressure to glomeruli inducing podocyte loss, and accelerated progression of chronic kidney disease (CKD) (PubMed:32830539). Acute administration of N(G)-nitro-L-arginine methyl ester (L-NAME) raises mean arterial pressure (MAP) of the knockout rats as in wild-type, but RBF and GFR are decreased less in knockout rats. However, RBF and GFR are significantly greater in knockout rats than in wild-type after the simultaneous administration of L-NAME and furosemide. Chronic administration of L-NAME with a simultaneous high-salt diet leads to impaired renal vasoconstrictor response to the blockade of nitric oxide synthase, which promotes hypertension-induced proteinuria and renal injury in knockout rats. After chronic administration of L-NAME, MAP increases in the knockout rats the same way as in wild-type, but RBF, GFR and glomerular capillary pressure are increased. They have greater loss of podocytes and glomerular nephrin expression than wild-type rats, and increased renal interstitial fibrosis. Expression of the profibrotics markers MMP9, MMP2 and TGF beta-1 increases more in L-NAME-treated knockout rats than in wild-type rats. Expression of tubular tight junction protein E-cadherin decreases more in knockout rats treated with L-NAME and high-salt diet for 3 weeks in association with greater expression of mesenchymal markers vimentin and alpha-SMA compared to wild-type (PubMed:33414130)
abcd1 deficient zebrafish appear normal. By day of life five abcd1 mutants demonstrate impaired motor function, and overall survival to adulthood of heterozygous and homozygous mutants is decreased
Not essential. Altered processing of anti-sigma factors RskA, RslA and RslM. Cells have altered colony morphology, lacking cording associated with virulence. Down-regulates extractable alpha-mycolate synthesis 4.6-fold, methoxymycolates 3.5-fold and ketomycolates 2.3-fold; has no effect on covalently esterified cell wall mycolates. Decreased abundance of hexamannosylated phosphatidylinositol mannoside. Decreased abundance of rpfC. Impairment of bacterial growth in a mouse (C57BL/6) aerosol infection. Bacterial titers in the lung after 3 weeks of infection were about 100-fold lower than in the wild-type; by 22 weeks they are 10,000-fold lower in the lung and fully cleared from the liver
Reduces the overall mating frequency in both liquid and solid media. Impairs stable attachments to human buccal epithelial cells and reduces capacity to cause systemic candidiasis in mice. Produces a thin biofilm that lacks much of the hyphal mass found in the wild type cell
impairs the production of W493 A and B
Development of anterior structures in the posterior part of the segment
Decreases phagocytosis of the fungus by host cells (PubMed:34986357). Increases expression of GPD2 (PubMed:34986357)
Abolishes the production of the spirocyclic sesquiterpene alpha-acorenol
Suppresses partially the ENF1 disruption pleiotropic developmental phenotypes, including the suppression of the abnormal patterning of the adaxial-abaxial-related gene expression in leaf primordia
Adaxially rolling and erect leaves which leads to plants with erect architecture and reduced lamina joint angle (PubMed:27473144). Abnormal bulliform cell number, size and arrangement in leaf blades (PubMed:27473144). Dark-green leaves with increased levels of chlorophylls (PubMed:27473144). Reduced number of tillers, altered grain morphology, and reduced number of grains per main panicle (PubMed:27473144). Reduced number and length of adventitious roots (PubMed:27473144)
Formation of large groups
Mutations affect nuclear fusion, lead to reduced chromosome stability and defects in spindle pole body duplication and/or separation as well as loss of viability under conditions of nitrogen starvation. Homozygous diploids are unable to sporulate. Mutations also lead to arrest in pachytene and deficiency in meiotic recombination and sensitivity to oleate
Does not affect the susceptibility to amphotericin B, itraconazole, fluconazole, voriconazole, and ketoconazole
RNAi-mediated knockdown results in defecation abnormalities
Decreased degradation of ssrA-tagged proteins by ClpX-ClpP, no effect on degradation by ClpA-ClpP protease. Delayed and decreased induction of the extracytoplasmic-stress response
RNAi-mediated knockdown causes no neuronal defects (PubMed:26194821). Furthermore RNAi-mediated knockdown rescues the neuronal defects of the pxn-1 mutant (ok785) (PubMed:26194821)
Embryos are viable and fertile and by 12 months of age do not exhibit obvious clinical signs but have significantly shortened life spans (PubMed:10527801, PubMed:17962032). Mice show elevation of lysosomal enzymes in brain and accumulation of autofluorescent storage material in neurons, retina and other cell types that increases with age (PubMed:10527801, PubMed:10440905, PubMed:17962032, PubMed:17855597). They also show neuropathological abnormalities with loss of certain cortical interneurons and hypertrophy of many interneuron populations in the hippocampus (PubMed:10527801). Moreover display progressive neurological deficits, including impaired motor function, decreased overall activity, acquisition of resting tremors, and increased susceptibility to pentilentetrazole-induced seizures (PubMed:17855597). Mice exhibit progressively impaired inner retinal function, altered pupillary light reflexes, losses of inner retinal neurons, and reduced brain mass. Mice show behavioral changes including reduced spontaneous activity levels and impaired learning and memory (PubMed:17962032). Cln3 hypomorphic mutant mice, harboring the ~1 kb common juvenile neuronal ceroid lipofuscinosis (JNCL) mutation, express multiple Cln3 mRNA splice variants and mutant battenin protein. Homozygous Cln3 mice exhibit a progressive JNCL-like disease, with perinatal onset of subunit c of ATP synthasedeposition in many cell types and later onset of neuronal dysfunction and behavioral deficits (PubMed:12374761). Can serve as an animal model for studying neuronal ceroid lipofuscinosis 3/Batten disease (PubMed:10527801, PubMed:10440905, PubMed:17962032, PubMed:12374761)
Embryogenesis arrested at cotyledon stage. Altered size exclusion limit of PD; abnormally maintained dilated PD at the torpedo stage, and increased formation of secondary branched PD. Chlorosis. Altered plastid development
Simultaneous disruption of tpsB abolishes trehalose biosynthesis during hyphal and conidia formation, and delays germination (PubMed:20439478). Simultaneous disruption of tpsB results in abnormal cell wall formation, sensitivity to caspofungin, calcofluor white, thermal stress and oxidative stress, and hypervirulence in a mouse model of aspergillosis (PubMed:20439478)
Morpholino knockdown of the protein causes reduced cranial outgrowth and defects of the cartilaginous elements of the jaw
Short anther filaments, delayed anther dehiscence and greatly reduced male fertility. Myb21 and myb24 double mutant is more severely sterile than myb21 mutant and has petals that just grew out of the sepals but ended at a lower level than the stigma. Myb21 and myb57 double mutant has an intermediate sterility phenotype and petals that grew to a final height parallel to the pistil. Myb21, myb24 and myb57 triple mutant has a strongly reduced fertility and an arrested growth of the petals that never grew out of the sepals
Early lethality in both males and females
Impaired neural crest cell migration and delay in neural crest formation leading to severe defects in multiple lineages of the neural crest
Sterile plants with extreme dwarf phenotype and cytokinetic defects, and accumulation of vesicles in leaf epidermal cells (PubMed:20870962). Impaired trafficking and endocytic recycling of ABCG36/PEN3 between the trans-Golgi network and the plasma membrane in root epidermal and cap cells leading to a strong intracellular accumulation of ABCG36/PEN3 and lost ABCG36/PEN3 outer lateral plasma membrane polarity (PubMed:27803190)
Is considerably less virulent in mice (PubMed:24114837). Reduces short chain polyP levels and results in accumulation of PPi (PubMed:24386955)
Enhanced root growth and faster lateral root development (PubMed:23922907). Altered floral morphology and nectar secretion (PubMed:23551385)
Lethal, due to male sterility
Mutants lacking the homeobox domain are viable and fertile but proliferate slightly more slowly than wild-type due to retarded larval development and reduced brood size. About 20% appear starved as they are shorter, thinner and paler at all stages with severely affected adults bearing only a few eggs. M3 neuron activity is decreased
Loses the ability to produce pyranterreones
Abnormal coloration and morphology of embryos leading to bushy plants, with aberrant organization of the shoot apical meristem (SAM) and unexpanded leaves with irregular phyllotaxy, as well as small and round epidermal cells (PubMed:18422605). Disrupted hydrophobic layers of epidermal cells (PubMed:18422605). Mislocalization of Golgi proteins (e.g. ERD2) and altered size of the Golgi apparatus (PubMed:18422605)
Male sterility due to a defect in anther dehiscence. Fertile pollen
Morpholino knockdown results in dorsalized embryos which have ventrally expanded chordin expression and reduced activation of the Bmp-dependent transcription factors smad1/5/8 (PubMed:16672343). Proteoglycans exhibits defective glycosylation and a greatly reduced affinity for bmp2 (PubMed:16672343)
In the double mutant crt1-2 crh1-1, compromised resistance to avirulent Pseudomonas syringae and Hyaloperonospora arabidopsidis associated with compromised cytosolic calcium accumulation upon infection (PubMed:20332379, PubMed:24799676). The double mutant crt1-2 crh1-1 exhibits also an increased sensitivity to turnip crinkle virus (TCV), and reduced defense response mediated by flg22 against Pseudomonas syringae (Pst). Impaired non-host resistance toward Phytophthora infestans and altered systemic acquired resistance (SAR) triggered by P. syringae pv. maculicola (Psm) AvrRpt2 cor(-) (PubMed:23250427)
Cells show absence of mature sre1 as well as inability to grow in the absence of oxygen
Defective RNA-induced gene silencing
Larval lethality, lack of vulva formation, infertility and lack of male spicule formation (PubMed:2071015). RNAi-mediated knockdown causes sterility, a small decrease in the peak rate of sheath cell contractions and a delay in the onset of ovulatory contractions (PubMed:15194811). Restores normal pharyngeal pumping rate in 30 percent of animals overexpressing lin-3 (PubMed:17891142)
Decreases translation of proteins required for detoxification of reactive oxygen species (PubMed:33260587). Sensitive to hydrogen peroxide (PubMed:33260587). Increases GRX1 mRNA level during vegetative growth (PubMed:33260587). Normal vegetative cell population growth on glucose, galactose, and glycerol carbon sources, at high temperature, and at standard temperature (PubMed:9778796, PubMed:33260587). Normal mating and sporulation (PubMed:9778796)
When associated with disruption in CAR1, CAR4 and CAR5 genes, reduced sensitivity to abscisic acid (ABA) during seedling establishment and root growth regulation
Mutants exhibit lymphopenia, neutrophilia and anemia. T cell development is disrupted at the CD4(-)CD8(-) to CD4(+)CD8(+) cell stages and T cell activation and adhesion are impaired. Neutrophils fail to migrate in response to chemotactic agents and are deficient in their ability to phagocytose bacteria. They show enhanced Th17 cells production (PubMed:19015308). The anemia is microcytic, hypochromic and characterized by abnormally shaped erythrocytes with aberrant F-actin foci and decreased lifespan (PubMed:23424621)
Lethal when homozygous. Required for both endosperm and embryo formation in the seed
Reduced amounts of paucimannosidic N-glycans-containing glycoproteins in roots and, to a lower extent, in leaves
Knockout mice show early perinatal death and major defects in the CNS, compromising especially the postnatal development of dorsal cortex, corpus callosum, hippocampus and cerebellum (PubMed:31297047). Neonatal neurogenesis and gliogenesis are deeply impaired (PubMed:31297047)
NBR1-conditional knockout mice are not affected concerning general autophagy. However, the deletion results in a slight but significant reduction on the number and size of SQSTM1 liquid droplets
Loss of protein glycosylation
Disruption mutant cannot grow on a synthetic medium containing pyridoxine, 4-pyridoxic acid or FHMPC as a sole carbon and nitrogen source
No visible phenotype. Mice were born at the expected Mendelian ratio and do not show gross abnormalities and/or obvious neurological defects. Mice have a normal life span and are fertile, although reproductive capacity is declining faster with age (PubMed:12925704). Embryonic fibroblasts from Syt7 deficient mice are less susceptible to Trypanosoma cruzi invasion, and display impaired lysosomal exocytosis and resealing after wounding (PubMed:12925704). Mutant mice display impaired insulin secretion: they exhibit normal insulin sensitivity and normal metabolic and Ca(2+) responses but impaired insulin release, due to Ca(2+)-sensing defects (PubMed:18308938). Impaired glucagon secretion (PubMed:19171650). Neurons show enhanced synaptic depression: spontaneous synaptic vesicle release is unaffected, while replenishment is impaired (PubMed:24569478). Abolished synaptic facilitation at all synapses except for mossy fiber synapses, where the remaining enhancement is consistent with use-dependent spike broadening that occurs at this synapse (PubMed:26738595). The loss of facilitation is not due to slowed recovery from depression. The initial probability of release and the presynaptic residual Ca(2+) signals are not affected (PubMed:26738595)
RNAi-mediated knockdown has no effect on seam cell division or differentiation, but in a sel-7 mutant background decreases number of seam cells (PubMed:19500563). Partially suppresses the hermaphrodite gonadal development defect in a lin-12 mutant background (PubMed:15020414)
Leads to altered sensitivity to fluconazole, LiCl, and copper
Mice show a complete loss of phosphatidylcholine, phosphatidylethanolamine, phosphatidylinositol and sphingomyelin transfer activities, and a partial loss of free cholesterol transfer activity (PubMed:10079112). Transfer of VLDL phospholipid into HDL is abolished (PubMed:10079112). A marked reduction in the levels of plasma HDL phospholipid, cholesteryl ester and free cholesterol seen, whereas the levels of non-HDL lipids are not significantly altered (PubMed:10079112)
Mice are haploinsufficient for tumor suppression. 50% develop tumors within their second year. 30% of the tumors are hepatocellular carcinomas
Flies display a distinct thin-eggshell phenotype
No visible phenotype (PubMed:19172180). Ape2 arp double mutants have no visible phenotype (PubMed:19172180). Ape1l ape2 double mutants are embryo lethal (PubMed:19172180)
Deficient mice are viable, fertile and exhibited no gross abnormalities in size, body weight, and anatomical features of major organs. However deficency causes a mild hemostatic defect and protects mice against arachidonate-induced shock and death
Completely abolishes the production of fumagillin and decreases virulence
Mortal germline (Mrt) phenotype in which there is a progressive decline in fertility with each generation at 25 degrees Celsius, and after 2 to 3 generations the brood size is 25% that of wild-type counterparts. Fertility in these mutants may be restored when transferred to a 20 degrees Celsius environment. Defective RNAi inheritance
Cells lacking this gene are unable to produce melanin in hyphae, resulting in albino mycelium, however there is no effect on growth or morphological development
Leads to defects in responding to some filament-inducing conditions and to reduced virulence
Conditional knockout from Purkinje cells (PCs) induces a negative shift in the reversal potential of chloride as reflected in the GABAA-receptor evoked currents, indicating a decrease in intracellular chloride concentration. Both in vitro and in vivo, PCs show a significantly increased action potential firing frequency of simple spikes. At the behavioral level, mice show deficits in locomotor activity
No visible phenotype. Higher abundance of fucosylated oligosaccharides and presence of unusual oligosaccharides
Mice exhibit a persistent state of mechanical allodynia following plantar incision (PubMed:24155322, PubMed:28405172). This allodynia phenotype is concurrent with long-lasting spinal phosphorylation of MAPK1/3 and MAP kinase p38 (PubMed:24155322). Tissue at the local incision site also shows prolonged expression of phosphorylated MAPK1/3 which persists through to post-operative day 12, although levels of phosphorylated MAP kinase p38 are normal (PubMed:28405172)
Elongated hypocotyls and reduced expansion of cotyledons under continuous far-red light. Reduced protochlorophyllide levels in darkness and less photobleaching in the light
Lethal; shows planar cell polarity defects with abnormal ommatidial orientation. RNAi-mediated knockdown in the eye results in planar cell polarity defects with ommatidia showing defective rotation
Essential, it cannot be deleted. The C-terminal region (residues 165-890) is sufficient for growth at 42 degrees Celsius, although it grows more slowly at 37 degrees and is cold-sensitive at 30 degrees Celsius (PubMed:1374802)
Impairs growth at low phosphate conditions when pho-5 is also absent. Prevents vanadate uptake
Increased susceptibility to fungal infection
No clumped-chloroplasts phenotype (PubMed:22025705). Phox1 and phox4 double mutants show no clumped-chloroplasts phenotype, but a 46% reduction in root hair growth (PubMed:22025705, PubMed:28096376). Phox1, phox3 and phox4 triple mutants and phox1, phox2, phox3 and phox4 quadruple mutants show a 70% reduction in root hair growth (PubMed:28096376)
Knockout mice show significant decline of COX activity and assembly in skeletal muscle. In particular, complexes IV, IV(2) and III(2)IV(2), and supercomplex I(1)III(2)IV(1) are reduced, whereas levels of complexes I, II, and III are normal
Enhanced grain production and higher cytokinin levels in inflorescence meristems
Deficient mice are viable and have a normal lifespan, although they are smaller in size. Mutant mice develop progressive and severe bilateral hydrocephalus (PubMed:27336173)
Single and myb118 myb115 double mutants do not show apparent developmental abnormalities (PubMed:18695688). The endosperm oil of double mutant myb115 myb118 lacks omega-7 fatty acids (PubMed:27681170)
STAT4-deficient mice are grossly indistinguishable from wild-type mice. However, the development of T-helper 1 cells in response to either IL12 or Listeria monocytogenes is strongly impaired (PubMed:8700209). In addition, mice are acutely sensitive to methicillin-resistant Staphylococcus aureus (MRSA) infection (PubMed:34138758)
No visible phenotype under normal growth conditions, but under short day conditions inflorescence stems of mutant plants show dramatic reduction of secondary cell wall formation in xylem fibers, leading to the inability of the stems to support an upright growth
No effect when grown in presence of chlorite, growth of a double sigF-yedY2 mutant is completely inhibited by 20 mM chlorite
No visible phenotype under normal growth conditions, but pollen of the double mutants agc1.5 and agc1.7 is impaired in polarized growth of pollen tube
Deficient mice displays no obvious phenotype and are fertile. Loss of PTGES2 expression does not result in a measurable decrease in PGE2 levels in any tissue or cell type examined from healthy mice (PubMed:19010439). Injection of the diabetogenic agent streptozotocin (STZ) at a dose to induce type-1 diabetes to knockout (KO) mice aggravates STZ-induced liver toxicity associated with high lethality, despite similar glucose levels (PubMed:25076362)
Cells lacking this gene are conditional thiamine auxotrophs, and display phenotypic behaviors similar to those of strains lacking isc (iron-sulfur [Fe-S] cluster biosynthesis) operon functions
Mutant larvae show an overgrowth of the third-instar NMJ, with an overall bouton number and satellite bouton number increase of 40% and 90%, respectively, compared with wild type. Mutant larvae also show a decrease in the amplitude of evoked excitatory junction currents (EJCs), but normal spontaneous miniature EJCs (mEJCs) and axonal transport. Adult mutants display reduced locomotor activity and progressive vacuolization in the brain, which is associated with neurodegeneration
Slightly reduced susceptibility to Beet Curly Top Virus and Beet Severe Curly Top Virus. The double mutant rem4.1 rem4.2 displays resistance to BCTV and BSCTV
Does not affect vegetative growth, conidiation, or appressoria formation, but redices in appressorial penetration and lesion development
Male and female mice grow without showing any external abnormalities and are fertile but display auditory deficits. In the developing inner ear, mice show pronounced reduction of cochlear innervation, despite normal gross morphology and general organization of the organ of Corti (PubMed:19936227). Adult mice have reduced startle response and impaired auditory brainstem responses consistent with mid-frequency range hearing loss (PubMed:21298075). Retinas in postnatal development display a delay in synaptogenesis (PubMed:23543054)
Decreases virulence during cotton plant infection
Flies exhibit defects in development of glutamatergic neuromuscular junctions (NMJs): increase in synaptic microtubule density
Leads to smaller colonies and swollen and vacuolated hyphae with double cell wall and leaky tips. Leads also to decreased conidiation
Dwarf phenotype
Cells lacking all four members of the SidE family (SdeA, SdeB, SdeC and SidE) show no intracellular growth defect in mouse bone marrow macrophages (BMM), but display attenuated growth inside the protozoan hosts A.castellanii and D.discoideum. This mutant no longer recruits the endoplasmic reticulum (ER) marker GFP-HDEL to its vacuoles, even at 10 hours post infection, and is unable to induce RAB33B ubiquitination during infection
Worms lacking cpg-2 and cpg-1 exhibit defects in cytokinesis during embryo development more specifically meiotic chromosome segregation, polar-body extrusion, osmotic barrier function and polarization. Embryos lacking cpg-2 and cpg-1 proteins have multiple nuclei lacking plasma membranes and may also have weak egg shells. Oocytes lacking cpg-2 and cpg-1 show cortical granules that are reduced in size
Deletion mutant shows a clear reduction in E. coli killing
Semi-dwarf plants and reduced seed size. Small panicle enclosure phenotype
Severe pruning defect in ddaC neurons (PubMed:24068890). Also shows defects in ddaD and ddaE neuron pruning and in ddaF apoptosis (PubMed:24068890). RNAi-mediated knockdown results in apical detachment of scolopidial cells in Johnston's organ (PubMed:27331610)
Abolishes the production of cichorine and leads to the accumulation of 3-methylorsellinic acid
Although cells lacking TIM18 live well and do not display any strong phenotype, they do not survive in the absence of mitochondrial DNA
In abi1td, enhanced induction of MKKK18 activity after 90 minutes of abscisic acid (ABA) treatment and reduced degradation of MKKK18 by the proteasome
Increased sensitivity to chilling and freezing temperatures, associated with a delayed induction of cold-responsive genes (PubMed:20026608, PubMed:20724845). Impaired MAP kinases activation in response to cold (PubMed:20724845)
Abolishes the production of swainsonine as well as of the 1,2-dihydroxyindolizine epimers intermediates
Mutation results in abrogation of synthesis of staphyloferrin B
Decrease in early biofilm formation (PubMed:20714350). About 40% reduction in adhesion to human lung epithelial cells and about 50% reduction in host cell invasion. No significant reduction in biofilm formation or bacterial aggregation (PubMed:24901708)
No visible phenotype at birth. Mice exhibit massive proteinuria, combined with the presence of leukocytes and hemoglobin in the urine. They develop enlarged kidneys, present damage to the glomeruli, renal inflammation and fibrosis. In the glomeruli, the thickness of the basement membrane is increased, and podocytes fail to develop normal foot processes
Males are either infertile due to a lack of sperm resulting from spermatogenic arrest, or subfertile due to impaired sperm motility. The motility defect is caused by altered Ca(2+) regulation of the flagellar beat of sperm
Flies display a normal antiviral immune response
No visible phenotype. Mice are viable, fertile and are born at the expected Mendelian rate with a slight decrease in male frequency. No defect in B-cell development, maturation and maintenance in periphery. Slight decrease in the number of follicular B-cell associated with an increase in the number of marginal zone B-cells
Morpholino knockdown results in defective embryonic cardiogenesis with hearts forming small ventricles that do not beat (PubMed:27217161). Defective endocardial maturation with endocardial cells showing a rounded morphology and no clear lumen forming in the heart (PubMed:27217161). Myofibril assembly is disrupted in the developing ventricle, preventing ventricle outgrowth (PubMed:27217161)
Cells lacking this gene are unable to grow on acetate as carbon source
RNAi-mediated knockdown in hermaphrodites causes their progeny to arrest late in embryogenesis (pretzel stage) or as early L1 larvae (PubMed:11532911). Arrested L1 larvae are invariably uncoordinated, lumpy and somewhat short and stout (PubMed:11532911). Also, the entire larval buccal capsule, the cuticular structure of the mouth, invariably fails to attach to the anterior-most region of the head (PubMed:11532911). RNAi-mediated knockdown at day 5 of adulthood (earlier RNAi treatment causes worms to become sick) causes extended longevity and also increases expression of elt-3 in the trunk hypodermis; longevity effect is suppressed in an elt-3 mutant background (PubMed:18662544). Knockdown at day 5 of adulthood slightly increases resistance to heat shock and to paraquat treatment (PubMed:18662544). RNAi-mediated knockdown at the L1 stage reduces the average number of seam cells per side; reduced further in an elt-6 mutant background (PubMed:11532911). RNAi-mediated knockdown at the L3 stage in an elt-6 mutant background reduces expression of lin-39
No visible phenotype under normal growth conditions (PubMed:22405823, PubMed:23951086). Mutant plants have decreased sensitivity to abscisic acid (ABA) and reduced tolerance to drought stress (PubMed:22405823)
Deletion causes a severe growth defect at low temperature and an elevated frequency of cell lysis resulting from impaired metabolism of the essential lipid precursor required for peptidoglycan synthesis
Leads to hypersusceptibility to the antifungal agents terbinafine and amorolfine, and to the metabolic inhibitors cycloheximide, brefeldin A, and fluphenazine. Shows a decreased number of germ tube-forming cells in the presence of estradiol when CDR2 is also deleted
Deletion of pvcA and pvcB abolishes rhabduscin biosynthesis and decreases virulence of the strain
The homozygous knockout of Plpp3 is embryonic lethal (PubMed:12925589, PubMed:17610274, PubMed:19123136). It is characterized by a delay in development, absence of chorioallantoic fusion at the 6 somite stage, allantois compaction, impaired remodeling of the primary capillary plexus of the yolk sac and gastrulation defects with low penetrance. Persistence of open neural tube is also frequently observed (PubMed:12925589, PubMed:19123136). Conditional knockout of Plpp3 in the cerebellum is associated with defects in postnatal cerebellum development, modifications in the cytoarchitecture and arrangement of Bergmann glia with a mild non-progressive motor coordination defect (PubMed:21319224). Conditional knockout of Plpp3 in endothelial cells is associated with vascular leakage and hemorrhage that likely result in insufficient cardiovascular development and the observed embryonic lethality (PubMed:27125875). Conditional knockout of Plpp3 in adipocytes does not affect the development of the adipose tissue. However, mutant homozygous mice display lower accumulation of ceramide and sphingomyelin on high fat or Western diets compared to control animals (PubMed:29889835)
Mice display abnormal circling behavior and severe vestibular defects owing to a depletion of sensory cells in the saccule and utricle, and a complete loss of the horizontal semicircular canal crista, as well as a fusion of the utricle and saccule endolymphatic spaces into a common utriculosaccular cavity. Moreover, most females have a reproductive defect: females can be fertilized and their embryos undergo normal preimplantation development, but the embryos fail to implant successfully in the uterus and subsequently die. Mice lacking both Hmx2 and Hmx3 show a complete loss of balance, postnatal dwarfism, defects in neuroendocrine system, disturbed hypothalamic-pituitary axis and subsequent die. Defects caused in mice lacking both Hmx2 and Hmx3 can be rescued by expressing the Drosophila Hmx protein
Results in complete loss of glucosylceramides (GluCers) in mutant cells (PubMed:11443131). Shows increased resistance to plant defensins MsDef1 and RsAFP2, and to heliomicin, a defensin-like peptide from the insect Heliothis virescens (PubMed:14604982, PubMed:19028992)
Reduced inflorescence stem growth and increased levels of acetate in rosette leaves
Reduced gravitropism, altered amyloplasts sedimentation but increased amyloplasts saltatory movement. Abnormal interactions between amyloplasts and actin filaments (AFs) in endodermal cells
Impaired disinapoyl spermidine conjugates accumulation in seeds
Spermatocytes have a significant decrease in the global level of the heterochromatin markers and increase in the chromosomal double-strand break (DSB) signals at the leptotene/zygotene stages
Under nitrogen-limited conditions, mutant shows a considerably changed growth rate and a prolonged lag phase. Level of NifH is significantly decreased
RNAi-mediated knockdown causes defects in cell fate, embryonic morphogenesis, and embryonic and larval lethality (PubMed:21884786, PubMed:23851392). Defects in gastrulation; failure of endodermal E cells to internalize at the 26- to 28-cell stage (PubMed:26434722). Reduces cell cycle lengths significantly in endodermal E cells (PubMed:26434722). Significant reduction in expression of end-1 and end-3, and enhances the disruption of intestinal development in an end-3 mutant background (PubMed:26434722). Reduces number of offspring, and the production of oocytes is compromised (PubMed:21884786). Failure of cell death in pharyngeal M4 motor neuron sister (PubMed:21884786)
Self-sterile phenotype which is slightly temperature sensitive (PubMed:16143610). In hermaphrodites the temperature sensitivity is restricted to the larval stage 4 when spermatogenesis takes place (PubMed:16143610). Premature disassembly of FB-MO before or while spermatids are budding from spermatocytes (PubMed:2744235). FB remain in spermatocytes whereas MO localize to spermatids but often fail to fuse with plasma membrane (PubMed:2744235). Resulting spermatids are usually smaller than normal and contain several or mislocalized nuclei (PubMed:16143610, PubMed:2744235). Fewer spermatozoa are generated and those that are have abnormally short pseudopods and are immotile (PubMed:2744235). The size of spermatocytes is unaffected (PubMed:2744235). Increased life span and resistance to UV and heat but not to oxidative stress induced by paraquat (PubMed:10638523). Normal production of fertile oocytes (PubMed:10638523)
No visible phenotypes when grown under normal conditions, but increased sensitivity to low temperature. Hypersensitivity to paclobutrazol and to drought, glucose and salt stresses
Conditional knockout in bone marrow increases lymphoid cell numbers but decreases the number of myeloid cells (PubMed:29138493). Decreased bone marrow cellularity, enlargement of thymus and cervical lymph nodes with an increased number of lymphocytes, increased lymphocyte numbers in peripheral blood, decreased numbers of granulocytes and monocytes, enrichment of transcription factor Spi1/PU.1 at the promoters of lymphoid fate regulator genes, increased expression of lymphoid fate regulator genes, and enhanced lymphoid differentiation of hematopoietic multipotent progenitor cells (PubMed:29138493). No effect on red blood cell or platelet numbers (PubMed:29138493)
Very low levels of RNAi-mediated methylation and derepression of silenced genes. Impaired RNA polymerase V-chromatin associations (Pol V). The mutant idn1-1 fails to establish DNA methylation and exhibits a late-flowering phenotype
Cells lacking this gene show a significant defect in intestinal colonization
Inactivation does not abolish EsxA secretion, EsxA-specific immunogenicity and enhanced virulence
Cells lacking this gene are unable to grow on choline, in contrast to wild-type, and do not produce TMA
RNAi-mediated knockdown causes a 50% reduction of progeny numbers and a slower growth. RNAi-mediated knockdown at the L4 larval stage results in a reduced lifespan and in the lysosomal accumulation of lipofuscin in the intestine with age. Motility is decreased and muscle sarcomeres are often patched or wrinkled. Moderate decrease in pharyngeal pumping associated with an abnormal pharynx morphology characterized by irregular and discontinued cell junction protein ajm-1 localization at the beginning and at the end of the procorpus and in the isthmus and a loss of one of the three loops forming the lumen. In addition, causes the up-regulation of ER stress marker hsp-4 which is prevented in an ire-1 mutant background. UDPase and to a lesser extent GDPase activities are reduced
No visible phenotype under normal growth conditions, but mutant seeds are defective in mucilage extrusion
Elevated levels of hydroxypyruvate and other metabolites in leaves. Under long-day conditions, slightly altered photosynthetic gas exchange. When associated with HPR1 disruption, strong air-sensitivity and dramatic reduction in photosynthetic performance
Leads to mild sensitivity to a range of drugs including doxorubicin, cycloheximide, and bleomycine, as well as to calcium
Strains lacking this gene are attenuated for systemic virulence in mice
Mutant worms have decreased egg-laying capacity at 20 degrees Celsius and decreased hatching rate and smaller brood size at 25 degrees Celsius. Mutant worms also exhibit decreased fertilization rates but do not show any change in physical appearance
Abolishes the production of eupenifeldin as well as of the intermediate humulenol
Decreased phosphate transport (PubMed:6436026, Ref.5). In PAO1, decreased ability to adhere to and disrupt a layer of human epithelial cells (PubMed:18282104). Hyper-swarming in the presence and absence of phosphate; hyper-swarming is usually seen during phosphate-depleted growth. Increased induction of alkaline phosphatase in the presence and absence of phosphate. Double phoB-pstS deletions act like phoB deletions (PubMed:24023943)
Increase in CXCL16 abundance in the epidermis at 2 days of age
Decreases strongly intracellular carboxypeptidase activity
Embryos show various defects including an inflated hindbrain ventricle and smaller head and eyes. Mutant adults show an increased incidence of cancer, notably malignant peripheral nerve sheath tumors
Simultaneous knockdown of Dop1R1 and myc restores the induced male-male courtship observed in the single myc knockdown
Results in decreased production of chaetoglobosin A
Non-viable seedlings under normal atmospheric conditions, but grow normally under non-photorespiratory conditions high CO(2) conditions
Morpholino knockdown of both isoform 1 and isoform 2 leads to a major decrease in the expression of neurog1 and downstream markers of neuronal differentiation. Knockdown of either isoform alone leads to a mild decrease in the expression of late markers of neurogenesis, but has no detectable effect on neurog1 expression
Does not affect the production of azasperpyranone A
Morpholino knockdown results in a dorsalized phenotype, with enlargement of the telencephalon and reduction of the tail at 24 hours post-fertilization. Expression of the dorsal marker goosecoid is expanded, whereas expression of the ventral markers eve1 and tbx6 is reduced. In addition, expression of the telencephalon marker opl and the midbrain/hindbrain boundary marker pax2.1 is expanded posteriorly
Cells lacking this gene accumulate MurNAc 1-phosphate. Deletion of this gene increases fosfomycin sensitivity. Growth rate is not affected
Lethality before 5 days post-fertilization (dpf). Mutants display abnormal swimming behavior, abnormal head shape and curved tail. Defects are due to neuromotor defects and cerebellar neurodegeneration
Mice develop brain hemorrhage that cause death at 14 dpc during development. They express the nonsialylated Tn antigen and brains form a chaotic microvascular network with distorted capillary lumens and defective association of endothelial cells with pericytes and extracellular matrix
Male knockout mice (KO) gradually become fat after 20 weeks of age compared to the wild-type (WT) mice. At 36 weeks, weight differences in whole body, epididymal fat pad, and liver between the KO and WT mice is significant. KO mice exhibit a hyperphagia phenotype with the plasma concentration of leptin higher in the KO mice than in the WT mice
Loss of plasmid replication (PubMed:16936050, PubMed:17873046). TubZ levels increase, TubZ still polymerizes (PubMed:17510284)
Embryonic lethal at 9.5 dpc
Slight increase in hypocotyl length (PubMed:24858935). Plants missing PP2C42/PP2C-D2, PP2C64/PP2C-D5, PP2C79/PP2C-D7, PP2C63/PP2C-D8 and PP2C68/PP2C-D9 exhibit an increased hypocotyl length, as well as an enhanced sensitivity to LiCl and media acidification (PubMed:24858935)
Cells in which tagC is disrupted do not form SDF-2. Null mutations in either tagB or tagC lead to a cell autonomous defect in prestalk differentiation and a 5-fold reduction in the expression of the prestalk gene ecmA. Disruption of regA in a tagB null or in a tagC null background results in higher levels of sporulation
Impairs the expression of the zearalenone biosynthesis cluster genes and results in the loss of beta-zearalenonol and zearalenone production (PubMed:16262793)
No visible phenotype, although mutant mice present a mild impairment in the adaptation to new environment. Mutant mice do not respond to cannabinoids, such as anandamide. The acute effects of opiates are not affected, but the reinforcing properties of morphine and the severity of the withdrawal syndrome are strongly reduced (PubMed:9888857). On high-fat diet, mutant mice remain lean, their metabolic and hormonal profile are unchanged, and they do not develop fatty liver, despite having caloric intake similar to that of wild-type mice (PubMed:15864349)
Negatively affects telomere maintenance producing very short telomeres. Enhances the toxicity of heterologously expressed alpha-synuclein
No visible phenotype when deleted singly or as the relBE2 operon
Leads to the accumulation of glandicoline B (PubMed:22118684, PubMed:23776469). Does not affect the production of roquefortine C but decreases the production of meleagrin (PubMed:22118684, PubMed:24225953, PubMed:23776469)
Disrupts fly aversion to caffeine, N,N-Diethyl-meta-toluamide (DEET), and L-canavanine
No visible phenotype, probably due to redundancy with BHLH30
Flies exhibit aberrant midline guidance of axons and establishment of muscle pattern
Mutant mice generated by CRISPR-Cas9-mediated gene editing are born at the expected Mendelian rate. They show impaired motor skills, with decreased motor coordination and endurance. Mutant show global COX deficiency with reduced enzymatic activity, low steady-state levels of structural subunits and defective assembly in all the tested tissues
In null embryos the central apparatus is unstable leading to a loss, and presumably degradation of proteins to which SPAG6 normally binds, including SPAG16 and SPAG17
Deletion mutant is compromised for survival upon exposure to oxidative stress and infection in guinea pigs (PubMed:36507689). Deletion of the gene does not affect colony morphology, growth pattern, biofilm formation and sensitivity to isoniazid, rifampicin, levofloxacin and ethambutol (PubMed:36507689). About 200 genes are differentially expressed in the mutant strain in comparison to the wild-type strain (PubMed:36507689)
Impairs the production of victorin or of any victorin derivative or intermediate
Lethality occurs at approximately 3 weeks of age, accompanied by severe hydrocephaly. Weight at birth is similar to wild type but subsequently there is significant growth retardation. Bone mineralization is reduced in the vertebral column and hindlimbs, associated with decreased bone strength. Bone length and skull thickness is also slightly reduced. Trabecular bone density is reduced, along with reduced trabecular number and increased open porosity. Expression of the osteoblast marker genes RUNX2, BGLAP/OCN and COL1A1/COL1 is reduced in bone tissue. Expression of SP7/OSX and ALPL is also reduced in cultured calvarial osteoblasts. Osteoclast differentiation does not appear to be affected. No obvious effects on cilia length or axonemal structure
Mildly sensitive to duramycin (phosphatidylethanolamine-binding cytoxin) (PubMed:30824614). Suppresses the growth defects caused by mutations of flippases including NEO1, DRS2, DNF1, DNF2 and DNF3, as well as of the DRS2 regulator CDC50, the DNF1 and DNF2 regulator LEM3, and NEO1 interactors MON2 and DOP1 (PubMed:27811238, PubMed:28057802, PubMed:30824614)
Inactivation of the gene does not affect sporulation, but a ylmC/ymxH double mutant shows a 100-fold reduction in the efficiency of sporulation
Reduces nearly twofold the length and width of the conidiophore stalk and vesicle (PubMed:25367340)
Deletion of icl2 in cells growing on 0.2% propionate shows a slightly decrease of both isocitrate and methylisocitrate lyase activity
Morpholino knockdown of the protein results in a curved trunk and small head at 48 hpf. Morphants show disruption of skeletal muscle patterning with an irregular, wavy appearance of the striated myofibers and extensive gaps between the myofibers. Myofibers show disorganized and irregular patterns with small aggregates of alpha-actinin, suggesting nemaline bodies. Animals exhibit sporadic muscle tremor and coordinated swimming is not observed
Reduced starch content in pollen and male sterility. Enhanced resistance against bacterial blight mediated by X.oryzae pv. oryzae (Xoo) strain PXO99(A)
No observable effect on growth in vitro, infects ticks normally, required to infect mice. No change in ability to colonize the tick midgut, no change in bacterial migration to the tick salivary gland (PubMed:14970347, PubMed:16714588). Loss of infectivity in mice, including SCID and NOSCIDg mice (deficient in T and B cells, functional natural killer (NK) cells which also lack complement C5) (PubMed:20199597, PubMed:26438793). About 40-70% more uptake by murine peritoneal macrophages and human macrophages (B.burgdorferi strains B31 and 297 deleted); no change in uptake by neutrophils (PubMed:26438793). Whole bacteria no longer interact with human plasminogen (PubMed:22433849). Only about 12% of bacteria survive in mouse bloodstream longer than 30 minutes post-inoculation, decreased bacterial binding to C4b in vitro (PubMed:28873507)
Reduced secondary wall thickening in vessels and collapsed vessel
Flies display pupal lethality with defects in axon growth, branching and pathfinding, synaptic length and organization of the neuromuscular junction. They also display defects in cell morphology with cells exhibiting a starfish-like shape with multiple slender cell extensions and loss of actin filaments at the cell periphery (PubMed:12818175, PubMed:14588242, PubMed:15269173). RNAi-mediated knockdown in gamma-aminobutyric acid (GABA)ergic neurons, or specifically in the anterior paired lateral (APL) neurons or in the antennal lobe local interneurons (LNs), results in feeding-dependent socialization defects (PubMed:32200800)
RNAi-mediated knockdown specifically in pHCl-2 expressing enterocytes delays pupariation and reduces food intake
No effect on expression of bacterial lipoprotein FTN_1103. Bacteria are as virulent in mice as wild-type bacteria
Cells are resistant to methanol, acriflavine and thiabendazole
Deletion prevents hemagglutination (erythrocyte recognition), although cells are still poorly fimbriated
Increased accumulation of methylthiobutyl, -pentyl, -heptyl and -octyl glucosinolates in leaves and seeds
Knockdown and RNAi cause reduced lifespan. Knockdown reduced brood size and halved the production of H(2)S
Disruption of the gene leads to phage C1 adsorption defect. Mutation does not impair vitamin B12 utilization. Inactivation also leads to increased ampicillin resistance (PubMed:8752353). Mutant is resistant to phage C6 (PubMed:12558182). Mutation also confers resistance to ColV (PubMed:15743941). Deletion mutant lyses upon glucose depletion in the absence of exogenous serine (PubMed:31680488)
Cells lacking this gene show an extracellular accumulation of the disaccharide turnover product MurNAc-GlcNAc, but do not accumulate MurNAc
RNAi-mediated knockdown in a sod-1 mutant background results in increased aggregation of denatured proteins in neurons
Decreases erythrocyte count and increases reticulocyte count (PubMed:32358067). Abnormal erythroblast cytokinesis and differentiation (PubMed:32358067). Decreases hemoglobin levels in maturing erythroid cells (PubMed:32358067)
Non-essential, it can be deleted. The gene for the antisense antitoxin SR4 RNA cannot be deleted
Mice are normal but males are sterile. Male sterility is due to defects in sperm cell hyperactivation and decreased stability of Catsper1
Knockouts at the asexual blood stage are viable and have normal merozoite formation in the host erythrocytes (PubMed:18590734). cGMP hydrolysis is reduced by about 20% with no effect on cAMP hydrolysis (PubMed:18590734)
Cells are unable to methylate the glycopeptidolipid fatty acids
Enhanced global lactate metabolism with elevated glucose consumption, increased ATP production and decreased perigonadal fat pad weight and fat/body weight ratio (PubMed:33406399). Elevated serum and secreted lactate levels (PubMed:33406399). Conditional knockout in astrocytes results in initiation of gliomagenesis and development of neurological symptoms that include seizure, ataxia and/or paralysis at 55-65 weeks of age (PubMed:33406399)
Positional defects in internal organs. The lung presents a right pulmonary isomerism. The stomach is located on either the left or the right and the spleen is small and has an abnormal shape. The apex of the heart pointed to the right or left. In addition malpositioning of heart outflow tracts is observed, the aorta is connected to the right ventricle and emerged from the heart in a ventral position and to the right of the pulmonary artery. This one is connected to either the left or the right ventricle
Low-level streptomycin resistance
Deletion increases the sensitivity to cystine
Embryos with CRISPR-induced armc9 null mutations show curved body shape, retinal dystrophy, coloboma, reduced cilia number in ventricles, and shortened cilia in photoreceptor outer segments
Expression in ventral CEPsh glia is normal in knockout, but significantly reduced on a vab-3(ns157) mutant background (PubMed:18508862). RNAi-mediated knockdown causes egg-laying defects (PubMed:16014321)
Mutant animals are born in a Mendelian ratio and appear physically normal at birth (PubMed:18654663). Mice display increased energy expenditure, lower levels of plasma triglycerides and free fatty acids (PubMed:18654663, PubMed:18682832). The body weights of wild-type and mutant mice fed a standard diet do not differ up to 14 weeks of age, nor does food intake (PubMed:18654663). From 16 weeks of age, the body weight of mutant mice significantly decreases compared with that of wild-type mice (PubMed:18654663, PubMed:18682832). When animals are fed a high-fat diet, the gain in body weight is significantly smaller for mutant mice than for wild-type (PubMed:18654663). Under these feeding conditions, mutant mice are also protected from insulin resistance and from accumulation of fat in the liver (PubMed:18654663). The body temperature do not differ significantly between mutant and wild-type mice maintained at room temperature, but the basal rate of oxygen consumption is significantly increased in mutants (PubMed:18654663)
Cells lacking this gene fail to synthesize any xanthan biosynthetic lipid sugar intermediates. They do not produce xanthan and exhibit a 50% virulence index reduction
Cells lacking this gene have no detectable pupylated proteins and substrate proteins accumulate. These cells also become hypersensitive to reactive nitrogen intermediates (RNI) and fail to grow in both wild-type and nitric oxide synthase 2 deficient macrophages. Moreover, they display increased resistance to hydrogen peroxide
Flies display impaired deposition of pigment granules (PubMed:9065698, PubMed:10549280). Member of the 'granule group' of eye color genes as mutants affect deposition in pigment granules of two types of pigments, the ommochromes and drosopterins (PubMed:9065698, PubMed:10549280). RNAi-mediated knockdown results in late endosome fragmentation and mislocalization of Vps8 (PubMed:27253064)
A single chpB disruption has no phenotype; a quadruple chpA-chpC-chpD-chpH knockout has delayed aerial hyphae formation and sporulation. A quintuple chpA-chpB-chpC-chpD-chpH knockout has a longer delay in aerial hyphae formation and an almost complete lack of sporulation. The quintuple knockout still expresses ChpE, ChpF and ChpG (PubMed:12832397). Quintuple knockout chpA-chpB-chpC-chpD-chpH has strongly delayed aerial hyphae formation, makes many fewer aerial hyphae but no effect on viability of the spores produced. Further deletion of chpE leads to more severe effects, and on rich media few aerial hyphae are produced after prolonged growth. Those few hyphae do differentiate into spores and have a rodlet layer (PubMed:12832396). Deletion of all 8 chaplin genes on minimal medium leads to severely disrupted aerial hyphae that collapse on the colony surface and are not hydrophobic. A few spore chains can still be made, but they have neither rodlets or amyloid-like fibers. rdlA and rdlB mRNA are down-regulated (PubMed:15228525, PubMed:17462011). Deletion of all 8 chaplin genes on rich medium leads to a reduced abundance of aerial hyphae without rodlets and occasional spore chains on surface hyphae. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011). Deletion of the 3 long chaplins (ChpA, ChpB, ChpC) results in a 24 hour delay in aerial hyphae formation, while rodlets are about 1.5-fold longer than wild-type (PubMed:22296345). Deletion of all 8 chaplin genes significantly reduces cellular attachment to a hydrophobic substrate; thin fibrils instead of fimbrae are detected. The long chaplins (ChpA, ChpB and ChpC, as seen by near wild-type attachment of the hextuple chpA-chpB-chpC-chpD-chpE-chpH knockout) are not essential but may contribute to cellular attachment (PubMed:19682261)
No visible phenotype (PubMed:22406547). Mice are born at the expected Mendelian rate, are viable and fertile (PubMed:22406547). Compared to wild-type littermates, cultured hippocampus neurons from mutant mice display an increased number of excitatory synapses (PubMed:22325200). Likewise, mice with a triple gene disruption that lack Rtn4r, Rtn4rl1 and Rtn4rl2 have no visible phenotype, are healthy and viable (PubMed:22406547, PubMed:22325200). Mice with a triple gene disruption that lack Rtn4r, Rtn4rl1 and Rtn4rl2 have normal brain size and grossly normal brain anatomy, but display defects of medial brain structures, including an absence of the fasciola cinereum, corpus callosum agenesis and formation of bilateral Probst bundles indicative of the failure of callosally projecting neurons to extend across the midline (PubMed:27339102). Mice with a triple gene disruption of Rtn4r, Rtn4rl1 and Rtn4rl2 display impaired ability to stay on a rotarod and increased spontaneous locomotion (PubMed:27339102). These mice display an increased number of excitatory synapses in the apical dendritic regions of hippocampus neurons, an increase in the complexity of dendrite structure and increased total dendrite length (PubMed:22325200). One month after birth, mice with a triple gene disruption that lack Rtn4r, Rtn4rl1 and Rtn4rl2 show a significant reduction in the survival of motoneurons (PubMed:26335717). Compared to wild-type or single mutants, cerebellar granule cells from mice lacking Rtn4r, Rtn4rl1 and Rtn4rl2 show decreased myelin-mediated inhibition of neurite outgrowth, an inhibition that is strongly decreased on myelin deficient in Mag, Rtn4 and Omg (PubMed:22406547). Mice lacking both Rtn4r and Rtn4rl1 show increased axon regeneration after injury; the same effect is observed when Rtn4r, Rtn4rl1 and Rtn4rl2 are disrupted (PubMed:22406547). Combined disruption of Rtn4r, Rtn4rl1 and Ptprs further increases axon regeneration after injury (PubMed:22406547). Single gene disruption of Rtn4r, Rtn4rl1 and Rtn4rl2 and combined disruption of Rtn4r and Rtn4rl2 have no effect on axon regeneration (PubMed:22406547)
Leads to an increase in phagocytosis but does not influence binding to host macrophages in infected mice, when the pleiotropic ABC efflux transporter of multiple drugs CDR1 is also deleted
Mice show normal postnatal body mass gain, develop normally and are fertile. Show larger infarct collagen-rich scars and more severe heart contractile dysfunction compared to wild-type mice after ischemia and reperfusion (IR) injury
A high percentage of mutants die as pupae or pharate adults (PubMed:27166823, PubMed:27672113). Under nutrient-replete conditions, larvae display a significant increase in TORC1 activity (PubMed:27672113, PubMed:27166823). Adult escapers display a small but significant increase in body weight and a reduction in climbing (PubMed:27672113). Newly hatched males have a decreased tolerance to both complete starvation and amino acid starvation, likely due to decreased triacylglyceride (TAG) storage and the inability to down-regulate TORC1 activity and activate catabolic metabolism and autophagy (PubMed:27672113). Conditional RNAi-mediated knockdown in the female germline results in a small decrease in the rate of egg production when females are provided with a protein source of wet yeast (PubMed:24786828). Females starved of amino acids for a brief period have increased numbers of degenerating young eggs and show permanent loss of fertility (PubMed:24786828). Mid-stage egg chambers are unaffected (PubMed:24786828)
Double RNAi-mediated knockdown with sem-2 results in no sex myoblast production
Morpholino knockdown of the protein causes subtle defects in mesenchymal cell migration, but no gross anatomical defects. The migration of neural crest cells towards the pharyngeal arches is altered, resulting in no clear separation between the first and second pharyngeal arch cells
Enhanced sensitivity to abscisic acid (ABA) (PubMed:25330042). Decreased seed longevity (PubMed:24388521)
No visible phenotype, probably due to the redundancy with 3AT2
Morpholino knockdown results in circling swimming behavior at the larval stage (PubMed:22216300). Reduced fin bud formation and loss of myod1 expression in embryo hyoid muscles (PubMed:19216761, PubMed:22216300, PubMed:22406073). Disruption of cuboidal morphology of adaxial cell pseudo-epithelium, and failure of myod1-expressing cells to incorporate into the adaxial cell layer (PubMed:19216761). Slow muscle fibers are abnormally shaped at 24 hpf and 48 hpf and fast muscle cells form shorter myofibrils at 24 hpf and 48 hpf, in addition unfused fast muscles cells are present at 48 hpf (PubMed:19216761). Reduced expression of thin filament genes in skeletal muscles and thick filament genes in embryos (PubMed:19216761). Weak and discontinuous pattern of cxcl12a/sdf1a expression just before the posterior lateral line (PLL) begins to migrate in the posterior lateral mesoderm at the tail bud stage, and in adaxial cells at the 10-somite stage (PubMed:22216300). Disruption of myoseptum distribution as a result of abnormal differentiation of cxcl12a/sdf1a-expressing cells in the horizontal myoseptum at 24 hpf (PubMed:22216300). Increase in cell death rate in the PLL primordium and deposited neuromasts at 36 hpf (PubMed:22216300). Decrease in the number of PLL neuromasts with 15% of morphants showing complete loss of neuromasts at 48 hpf (PubMed:22216300). The speed of PLL primordium migration is reduced and neuromasts are deposited at inappropriate locations along the length of the posteriorly extending primordium (PubMed:22216300). Disruption of the discrete dorsoventral domains resulting in narrowing of the mediolateral region and slower extension of the expression domains towards the dorsal region at the shield stage (PubMed:22406073). Abnormal anterior-posterior axis, reduced dorsalward movement speed of lateral marginal cells and reduced wnt5b expression at the end of gastrulation. Embryos have a broader neural plate in the neuroectoderm with shorter and broader notochords, and reduced cell elongation (PubMed:22406073)
Genetic deletion causes a perinatal lethal phenotype in most mutant mice (PubMed:26051944). A small percentage of mutants thrive and have a phenotype characterized by an ataxic gait and progressive Purkinje cell degeneration (PubMed:26051944). Purkinje cell death is spatially patterned with surviving Purkinje cells appearing normal and maintaining molecular layer morphology (PubMed:26051944). Phosphatase activity toward phosphoinositol substrates is reduced in the mutant relative to wild-type littermates (PubMed:26051944)
No visible phenotype. Chal and cll2 double mutants are defective in growth, with a short stature, shortened pedicells and compact inflorescence
No visible phenotype under normal growth conditions, but mutant seedlings exhibit drastic reduction of somatic homologous recombination rate after treatment with bleocin or mitomycin C
Full embryonic lethality; nearly 90% of the mutant embryos have been resorbed at 11.5 dpc (PubMed:12527753). Contrary to wild-type embryonic fibroblasts that have elongated, tubular mitochondria, mutant embryonic fibroblasts contain only fragmented mitochondria (PubMed:12527753). In cultured cells, mutant mitochondria show a strongly decreased frequency of mitochondrial fusion events (PubMed:12527753). In spite of the aberrant mitochondrial morphology, there seem to be no gross defects in respiration (PubMed:12527753). Heart-specific disruption of Mfn1 does not impair heart function and has no effect on cardiomyocyte mitochondrial morphometry or respiratory function (PubMed:23620051)
RNAi-mediated knockdown targeted to the gonadal distal tip cells (DTC) causes DTC migration defects (PubMed:24811939). Significant reduction in expression of src-1, tln-1 and nmy-2 in DTCs (PubMed:24811939). RNAi-mediated knockdown on an mrg-1;cec-4 double mutant background restores positioning of heterochromatin to the nuclear periphery (PubMed:31118512)
Cells lacking EF-P display highly pleiotropic phenotypes similar to those lacking EmpA or EmpB. They exhibit reduced growth rates, and they display increased susceptibility to hypoosmotic conditions, antibiotics, and detergents and enhanced resistance to the compound S-nitrosoglutathione. The susceptibility phenotypes are largely explained by the enhanced membrane permeability of the efp mutant. Analysis of the membrane proteomes of wild-type and efp mutant strains reveals few changes, including the prominent overexpression of a single porin, KdgM (STM1131), in the efp mutant outer membrane
Pale-green and stunted growth phenotypes
Embryos die around E9.5. Levels of H3K9me1 and H3K9me2 are drastically reduced
Critically short telomeres
Loss of about 70% of intramacrophage survival
Mice die in utero at the periimplantation stage due to impaired cell cycle progression (PubMed:11696557). Embryos show selective apoptosis of the inner cell mass but not of trophoblastic cells (PubMed:11696557). However, trophoblastic cells do not enter the S phase of the endoreduplication cycle (PubMed:11696557)
Cells express the stationary phase-specific competition-defective (SPCD) phenotype and are unable to catabolize dsDNA
Cells lacking this gene become highly sensitive to toxic non-canonical pyrimidine derivatives such as 5-fluoro-2'-deoxyuridine (5-FdUMP); the growth is completely blocked. Disruption of yjjG in a thyA mutant blocks the utilization of thymine but not that of thymidine for growth
Mutants are viable, but with reduced body weight and a lower survival rate compared to their wild-type littermates. They are extremely hiperactive and display profound autistic-like behavioral alterations including repetitive grooming as well as abnormalities in vocal and social behaviors. Mutants exhibit fewer dendritic spines and show reduced basal synaptic transmission, a reduced frequency of miniature excitatory postsynaptic currents and enhanced NMDA receptor-mediated excitatory currents at the physiological level. They also show a brain-region-specific up-regulation of ionotropic glutamate receptors and increased levels of SHANK3
Decreases cellular phosphatidylcholine levels (PubMed:24146988). Growth on non-fermentable carbon sources is severely decreased (lactate or glycerol) (PubMed:24146988). Sensitive to sodium dodecyl sulfate, and sorbitol (PubMed:24146988)
Temperature-dependent loss of excitatory junctional potentials in the larval neuromuscular junction
Exhibits a high degree of filamentous growth and leads to avirulence in a mouse model
Impaired in oxidation of sulfur compounds
Mice lacking Plpp2 do not show overt phenotype (PubMed:10992322). Born at the expected Mendelian frequency they are perfectly viable and fertile (PubMed:10992322)
Traditional knockout mutant with dprE2 disruption could not be achieved, suggesting this gene is essential (PubMed:24517327). Conditional knock-down mutant of dprE2 show that down-regulation of DprE2 results in growth arrest in vitro (PubMed:24517327). Cells lacking this gene display impaired growth (PubMed:12657046)
Strong dwarf phenotype, small siliques with only a few small-sized and sterile seeds, when grown in long day conditions under low light. Dysfunction of mitochondria: abnormal ultrastructure, reduced content of respiratory complex I/complex III supercomplexes and marked accumulation of tricarboxylic acid cycle derivatives and amino acids
Reduced survival following bacterium B.thuringiensis (B-18247) infection (PubMed:21931778). RNAi-mediated knockdown causes a reduction in survival following bacterium P.aeruginosa infection (PubMed:25274306)
Shortens the photoperiod by 2 hours as well as its amplitude, and offsets it by about 6 hours. Uncouples kaiA and kaiBC expression, cells no longer reset the clock in response to a dark pulse (PubMed:10926536, PubMed:16629668). Cells are very long (PubMed:16629668). Half of KaiC is always phosphorylated, phosphorylation phase is disrupted (PubMed:17088557, PubMed:20133618). In double labA-cikA deletions KaiC levels are much higher than either deletion alone, but the phosphorylation ratios are nearly wild-type (PubMed:20133618). RpaA is highly phosphorylated (PubMed:23541768)
Reduced resistance to Pseudomonas syringae expressing HopZ1a
Essential; depletion mutants show a significant increase in global mRNA half-life (PubMed:19779461) a decrease in at least 1 specific mRNA processing event (PubMed:19193632); in a more severe depletion experiment alteration of about 26% of transcripts was seen (PubMed:22412379). Later shown not to be essential in 4 strains, with a doubled doubling time, cells are translucent, suggesting a possible cell surface defect. 168 trpC2 cells able to grow on minimal medium. Loss of competence for plasmid transformation, 1000-fold less sporulation. Increased sensitivity to a wide range of antibiotics. Thinner cells form long curved structures of 2-3 cell lengths, cell walls are altered with looser, considerably less dense peptidoglycan. Double pnp-rny mutants grow very slowly, while rnjA-rny mutants could not be isolated (PubMed:23504012). Increased half-life of type I toxin-antitoxin system RNAs of BsrG/SR4 (PubMed:22229825)
RNAi-mediated knockdown results in weak ectopic expression of tbx-2 in seam cells of the head in young adults
Reduced growth rate when grown on 5-keto-D-gluconate as sole carbon source
Single gene deletion invades HeLa cells poorly, has a reduced ability to multiply in host cells and does not cause keratoconjunctivitis in guinea pigs. A double ompR-envZ deletion invades HeLa cells less well than the single mutant, has a limited ability to multiply in host cells and does not cause keratoconjunctivitis in guinea pigs (PubMed:2121709). A double ompR-envZ deletion has a lowered rate of infection of HeLa cells. Bacteria are seriously impaired in their ability to spread between host cells. The double deletion strain expresses very low amounts of OmpC and no OmpF (PubMed:8359885)
Mice show an ocular phenotype, microphthalmia, accompanied by a separation of the contact between the pigment and non-pigment cell layers of the ciliary epithelia. Male mice exhibits infertility, suggesting a role in spermatogenesis. In the hippocampus, the formation and the number of adherens junctions at the synapses is impaired, and the trajectory of mossy fiber is abnormal
Deletion of the gene increases swimming motility (PubMed:21181144). Disruption of this gene partially suppresses the reduced motility of a pdeH disruption. Full suppression i.e. wild-type motility, requires concomitant disruption of dgcJ, dgcE and dgcQ (PubMed:18765794)
Mice lacking Sez6, Sez6l1, Sez6l2 exhibit motor discordination, and PCs are ofen innervated by multiple climbing fibers with different neuronal origins in the cerebellum
No discernible phenotype in normal conditions (PubMed:21199889). Enhanced susceptibility to the bacterial pathogen P.syringae pv. maculicola (PubMed:21199889)
No visible phenotype under normal growth conditions, but root growth is affected in response to gravity or touch stimuli. conditions
Slow growth with abnormal phyllotaxy, shorter primary root with fewer lateral roots, shorter inflorescences, smaller siliques and reduced seed set, with unfertilized ovules interspersed among seeds of normal appearance. Mutant displays resistance to mitomycin C (MMC)
Embryonic lethality due to embryo developmental arrest at early globular stage
Decreased and delayed seed germination, but no other growth and development phenotypes. Increased sensitivity to oxalate-producing fungal pathogens
Root growth resistance to the anti-auxin p-chlorophenoxyisobutyric acid (PCIB), which inhibits auxin action by interfering the upstream auxin-signaling events (PubMed:17905859). Also resistant to the auxin analog 2,4-dichlorophenoxyacetic acid (2,4-D) herbicide (PubMed:17905859)
Deletion of the gene leads to a decrease in siderophore production during iron-depleted growth and attenuates growth (PubMed:14756782). The deletion mutant cannot produce petrobactin on iron-depleted medium (PubMed:16875672, PubMed:17189355). Mutant produces the petrobactin precursor 3,4-dihydroxybenzoyl (3,4-DHB) and bacillibactin (PubMed:16875672). The deletion mutant is severely attenuated for growth in macrophages and virulence in mice (PubMed:14756782). In vitro analysis show that mutants grow to a very limited extent as vegetative cells in iron-depleted medium but are not able to outgrow from spores under the same culture conditions (PubMed:17189355)
Greatly diminishes the production of fellutamides (PubMed:27294372)
Abolishes penetration of the host cuticle (PubMed:12795380). Abolishes conidiomata formation on the host (PubMed:12795380)
Male mutants are sterile and exhibit a profound defect in spermatogenesis and spermagiogenesis
Low fertility
Cells lacking this gene are defective in aerobic degradation of propanediol and display no propanediol dehydratase activity (PubMed:9023178). A triple pduC-pduD-pduE deletion releases no acetaldehyde when grown on propanediol (PubMed:16585748)
Decreased response to UV-B radiation (PubMed:24155752). No visible phenotype (PubMed:25569774)
Abolishes the production of AF-toxins and their precuror 9,10-epoxy-8-hydroxy-9-methyl-decatrienoic acid (EDA); and impairs the pathogenicity (PubMed:12019223). Does not affect growth rate, sporulation, and spore germination (PubMed:12019223)
Simultaneous disruption of MCR1 results in resistance to diphtheria toxin and zymocin
Deletion mutants result in elevated respiratory syncycial virus/RSV infection in vitro
Excessive axonal outgrowth and branching with decreased dendritic outgrowth (PubMed:32153366). Reduced acetylation of alpha-tubulin (PubMed:32153366)
Abnormal migration of QR neuroblast lineage cells and BDU interneurons (PubMed:10412978, PubMed:22293500, PubMed:26022293). QR neuroblast descendants QR.paa and QR.pap irregularly migrate towards the posterior side of the body axis while QR.ap descendants fail to migrate towards the head and remain in the central body region or migrate towards the tail (PubMed:10412978). Irregular AQR neuron morphology and polarity during migration in larva at the L4 stage (PubMed:26022293, PubMed:27780040). Loss of F-actin at the leading edge of AQR neurons and as a result AQR neurons do not extend the lamellipodium and thus fail to translocate the cell body towards the anterior of the body leading to posteriorly positioned AQR neurons (PubMed:27780040)
No growth on either stereoisoform of alanine
Disruption of a single RPS19 gene reduces cell growth; a double disruption is lethal. Depletion experiments show the proteins are required for correct maturation of precursor rRNA to generate the 18S small rRNA. A specific site between the 18S and 5.8S precursors (site A2 in ETS1) is not cleaved in disruption mutants. Partially assembled ribosomes are retained in the nucleolus rather than being exported to the cytoplasm. All effects are exacerbated in the double disruption. Increases association of NOC4 with 20S/21S pre-rRNA, decreases association of ENP1, TSR1 and RIO2 with 20S/21S pre-rRNA
RNAi mutant exhibits delayed light-induced stomatal opening
Knockout mice display reduced baseline blood pressure
About 2-fold increased sigma-E activity, 2-fold decrease in stability of RseA
Lethal under normal growth conditions and light-green stunted plants when grown in presence of sucrose
Mutant mice survive postnatally for 6-8 weeks and show skeletal and cardiac myopathy, sarcopenia, osteopenia, decreased bone formation, neuropathy, abnormal neuromuscular junctions, decreased skeletal muscle growth and decreased muscle satellite cell proliferation. They develop ventricular dilation and cardiac dysfunction. Within 2-3 weeks they show a reduction in their growth rate and by week 4 their growth ceases with their mean body weight being half of that of the wild-type or the heterozygous littermates. Simultaneous knockout of LMNA and LAP2 results in partial rescue of the phenotype, with a 30% increase in survival rate and a 25-50% increase in body weight. Double knockouts for MLIP and LMNA die sooner than single LMNA knockout. They develop much more severe ventricular dilation and cardiac dysfunction (PubMed:26436652)
Embryonic lethality between 10.5 and 12.5 dpc. Embryos display specific patterning defects of the developing heart; vasculogenesis defects of dorsal aortae, carotid arteries and branchial arteries. Global defects of angiogenesis are also observed. Defects are due to epigenetic aberrations affecting the expression of developmental genes, coincident with imbalanced histone modification and CpG methylation at promoters of affected genes
Mutants are able to survive to adulthood. Embryos constantly develop three otoliths in the otic vesicle at 24 hours post-fertilization (hpf) and recover to two during later development. Mutants show impaired coordinated ciliary beating in the otic vesicle and olfactory epithelium
Mice are born at an abnormal Mendelian ratio with the number of live-born pups reduced by 40% (PubMed:24076663). Surviving mice display a global protein hypersuccinylation and hyperglutarylation in both liver and skeletal muscle, while global lysine acetylation is not significantly impacted (PubMed:22076378, PubMed:24315375, PubMed:23806337, PubMed:24703693). Mice display elevated levels of blood ammonia during fasting, but otherwise are metabolically similar to wild-type (PubMed:24076663). No overt phenotype observed in mice on chow or high fat diet, suggesting that Sirt5 may be dispensable for basal homeostasis under these conditions (PubMed:24076663). After 48 hours of fasting, the absence of Cps1 activation leads to elevated blood ammonia levels, possibly due to the presence of succinylation at 'Lys-1291' in Cps1 (PubMed:22076378). Animals show a decrease of fatty acid oxidation and increase of acylcarnitines accumulation (PubMed:24315375)
Abolishes the production of 5-methyl orsellinic aldehyde and azasperpyranone A(AZA-A) but accumulates 5-methyl orsellinic acid
Only heterozygous strains can be obtained, suggesting this gene is essential
RNAi-mediated knockdown causes arrested development at 90-100 cells and inhibits differentiation (PubMed:11566890). The two E cell daughters (E2 cells), which form the endoderm, divide abnormally early, immediately after the MS2 cells (PubMed:11566890). Phosphorylation of the RNA Pol II large subunit C-terminal domain (CTD) is reduced severely in embryos (PubMed:11566890). Abolishes expression of a range of genes, including let-858, rps-5, hsp16.2, pes-10, cki-2 and sur-5 (PubMed:11566890). RNAi-mediated knockdown in a Rieske iron-sulfur protein isp-1 mutant background abolishes lifespan extension, drastically reduces fertility, and abolishes induction of expression of glutathione S-transferase gst-4 (PubMed:24107417). Knockdown also significantly shortens lifespan in either tpk-1 or clk-1 mutant backgrounds (PubMed:24107417). Causes significant up-regulation of expression of the translation initiation factor eif-1, in a clk-1 mutant background (PubMed:30198021)
Plants lacking both CRC and RBL exhibit strong floral meristem (FM) indeterminacy with reiterations of extra floral whorls in the center of the flower associated with reduced AGAMOUS and SUPERMAN levels
Morpholino knockdown of the protein causes reduced swim speed and abnormal touch-evoked escape response. Morphants exhibit abnormal cerebellar structure
Decreases membrane glucosylceramidase activity at neutral pH (PubMed:22072709). Increases cellular glucosylceramide levels; levels of normal glucosylceramide containing mature ceramide and abnormal glucosylceramide containing immature ceramide are both increased (PubMed:22072709). Decreases capsule size during growth in capsule-inducing conditions (PubMed:22072709)
Plants unable to grow photoautotrophically, although under low light (10 umol photons/m(2)/s) on a carbon source plants are green. Young leaves have residual PSII activity, PSII present mostly as monomers rather then dimers. Highly photosensitive
Defective chromosome segregation during germline mitosis, resulting in aneuploidy (PubMed:12827206). RNAi-mediated knock-down is embryonic lethal and results in aberrant chromosome segregation in mitosis (PubMed:12827206, PubMed:12808038)
Reduced drought tolerance, but no effect on freezing tolerance or on the ability to cold acclimation
Short-period phenotype even in darkness and short hypocotyls in response to red and blue light but not to far-red light (PubMed:17683937). Altered cell shape and increased ploidy levels at the seedling stage (PubMed:23144185). Hypersensitivity to salt stress (PubMed:23144185)
Defects in left-right axis patterning
Cells lacking this gene show significantly reduced growth in the presence of formaldehyde but not methylglyoxal
Can use ethanolamine (EA) as a nitrogen source but not as a carbon source (PubMed:2656649, PubMed:23585538). Not required for aerobic growth on EA supplemented with cobalamin (vitamin B12); deletions and mutations in this gene probably have polar effects on downstream gene expression. A double eutD-eutM and a quadruple eutP-eutQ-eutT-eutD deletion are not required for growth in the above conditions (PubMed:10464203). Somewhat reduced growth on EA, no excretion of acetate from cells. Reduced growth is due to residual nutrients from rich medium (PubMed:16272400, PubMed:23585538). A non-polar deletion mutant does not grow on EA between pH 5.5 and pH 8.5, releases slightly increased amounts of acetaldehyde on EA plus vitamin B12 (PubMed:16585748)
Deletion of the cntABCDF genes decreases nickel and cobalt intracellular levels and decreases virulence (PubMed:23279021). Insertion mutant shows attenuated growth in several infection models (PubMed:9791183)
Disruption of this gene leads to loss of growth on T3LHyp, D-proline and D-lysine as a sole carbon source, indicating that this gene has dual metabolic functions as a reductase for Pyr2C and Pip2C in these pathways. On the other hand, there is no difference in growth on other carbon sources, including T4LHyp, between the wild-type and mutant strains
Reduced life span and impaired egg-laying function resulting in the retention of eggs. Exogenous addition of serotonin, which triggers vulval muscle contraction, or imipranine, a serotonin uptake inhibitor, rescues the ability to lay eggs, showing that the morphology of the vulva muscles and HSN neurons is normal
Accumulates 2-(2-aminopropanamido)benzoic acid, 2-(2-(2-carboxyacetamido)propanamido)benzoic acid and 2-(2-((4-amino-1-carboxy-4-oxobutyl)amino)propanamido)benzoic acid, but downstream compounds are still produced in low amount (PubMed:29196288)
Cells lacking this gene accumulate MurNAc. Deletion of this gene increases fosfomycin sensitivity. Growth rate is not affected
Disruption of fadD22 abolishes the production of phenolphthioceroL
Perturbed spindle-kinetochore interactions, segregation defects and premature spindle elongation (PubMed:14522947, PubMed:15767665, PubMed:18070910). RNAi-mediated knockdown results in reduced localization of the spindly-like protein spdl-1 and the RZZ complex component zwl-1 to kinetochores (PubMed:18765790, PubMed:18936247). Does not affect spdl-1 localization to microtubules (PubMed:18936247)
Disruption of this gene causes no major change in the fatty acid and lipid contents of the mutant strain in vitro; the mutant produces all the major methyl-branched fatty acid containing lipids, including DIM, in similar amounts to the wild-type strain. The replication of this mutant is unaffected in mouse bone-marrow macrophages. However, the mutant strain displays severe growth defects in mice, since it multiplies much less extensively than does the parental strain during the acute phase of infection in the lungs and spleen of mice infected via the respiratory route
Disrupted pollen tube growth (PubMed:19714218). The triple mutant myb97 myb101 myb120 is impaired in pollen tube growth arrest and subsequent sperm cell release in the female gametophyte thus leading to a drastically reduced fertility. Altered pollen tube-specific gene expression (PubMed:23791732, PubMed:24278028)
No processing of prolipoprotein LppX and synthetic prolipoprotein constructs
Cells lacking this gene retain 70% of arabinofuranosidase activity, and the double mutant abfA/abf2 is inactive
Abnormally long and dense microtubules at the cellular cortex of early embryonic cells and growing microtubule plus ends reside at the cortex for up to five times longer. Causes excess centrosome separation and displacement towards the cellular cortex early in mitosis and subsequently a loss of anaphase spindle-pole oscillations and increased rates of spindle elongation. The centrosome separation phenotype is dependent on the motor protein dynein. Weakly delayed nuclear envelope breakdown (PubMed:21076413). Displays mild posterior lateral microtubule (PLM) axon overshooting in development and enhanced PLM regrowth following neuronal injury acting early in regrowth (PubMed:21943602). Axons display elevated numbers of growing microtubules in the steady (uninjured) state and display impenetrant developmental overgrowth in the absence of injury (PubMed:26339988)
Morpholino knockdown of the protein causes disorganized intersegmental vessels in the trunk
Essential, it cannot be disrupted. Depletion experiments show is involved in decay of Class I mRNAs (they decay rapidly in exponential phase, are difficult to detect in stationary phase). Involved in an early stage of degradation of Class II mRNAs (more abundant in stationary than exponential phase, show biphasic decay kinetics)
Mutant animals are born at Mendelian ratio, but very few reach adulthood, a large proportion die within the first days after birth. Lethality can be rescued by changing the genetic background from C57BL/6 to outbred NMRI, on which mutant animals appear healthy and fertile, although smaller. Immune cell homeostasis is normal (PubMed:23583643). However, Mice lacking both Rc3h1 and Rc3h2 genes in CD4(+) T-cells develop lymphadenopathy and splenomegaly with increased spleen weight and cellularity, already at young age. They show a prominent lung pathology with a progressive reduction in the alveolar space concomitant with inflammation. They show an average survival of 130 days. CD4(+) T-cells of these mutants show a pronounced bias toward Th17 differentiation (PubMed:23583643, PubMed:25282160)
No visible phenotype under normal growth conditions, but mutant plants are unable to grow on a medium containing allantoin as the sole nitrogen source and accumulate allantoate (PubMed:16496096, PubMed:18065556, PubMed:23940254). Partial defect in seed maturation and increased seed dormancy (PubMed:35861030)
Embryos lacking maternal and zygotic Smn die between 0 and 4 hours after egg laying. Zygotic mutants never initiate pupation but instead persist as third instar larvae, often surviving at this stage for several days. Mutant larvae exhibit reduced CNS, testes and muscle size, decreased locomotion and altered rhythmic motor activity. At the NMJ, mutant larvae show an overall decrease in the number of synaptic boutons, but an increase in enlarged ones, loss of large glutamate receptor clusters and an aberrant increase in evoked excitatory postsynaptic potential (eEPSP) amplitude and in miniature EPSP frequency. Mutant larvae also show defective mira subcellular localization in pNBs. Mutant larvae show a decrease of spliceosomal snRNA levels and splicing defects in U12 intron-containing genes (PubMed:23063131). But appreciable splicing defects in U12 intron-containing genes are not observed in mutant larvae, although a decrease in spliceosomal snRNA levels is detected, in PubMed:22813737. RNAi-mediated knockdown in tracheal cells results in defective gas-filling lumen in terminal branches (PubMed:23029159)
Reduced cuticular wax load on the stem surface and in silique walls, with altered cuticular lipid composition (especially C29 alkane) associated with diffuse cuticular layer structure (PubMed:22891199). Increased susceptibility to penetration of the epidermal cell wall by the non-host mildew fungal agent Blumeria graminis f. sp. hordei (Bgh) (PubMed:30102837). Some early aborted seeds and infertile ovules, and increased salt permeability in seeds (PubMed:24460633)
Increases total sleep time, decreases sleep latency, leads to loss of morning activity peak, and a failure to wake up in advance of light-on anticipation
No visible phenotype when grown in the absence of nicotinic acid
Dwarf, chlorina and sterility phenotypes
Leads to sensitivity to cell-wall-digesting enzymes, as well as reduced sporulation and fertility (PubMed:9770551). Abolishes pathogenicity by blocking the penetration of appressoria into plant cell surfaces (PubMed:9770551). Does not affect the ability to trigger early plant-cell defense responses (PubMed:9770551). Affects the expression of MPG1 and GSK1 (PubMed:28424497)
Cells lacking this gene completely lack the N-deacetylated muropeptides characteristic of the wild-type. Extremely sensitive to lysozyme in stationary phase as shown by five-log decrease in viability compared with the wild-type. Not sensitive to human serum amidase. Impaired survival and multiplication in Listeria-infected murine macrophage-like (RAW264.7) cells, mouse peritoneal-elicited macrophages (PEM) and bone marrow-derived macrophages (BMDM). Impaired escape from phagosomes of macrophages and rapidly killed within macrophage vacuoles of the infected mouse. Impaired in surviving at early stages of infection in intestinal lumen, intestine and mesenteric lymph nodes of orally infected human E-cadherin transgenic mice, which are permissive to Listeria oral infection. Severely attenuated in virulence at later stages of infection in intravenously infected mouse shown by lower bacterial counts compared to wild-type in both liver and spleen of the infected mouse. Induces interleukin 6 (IL-6) and a massive IFN-beta production in RAW264.7 and PEM cells of the infected mouse in a manner that is dependent on Toll-like receptor 2 (TLR2) and also affected by nucleotide-binding oligomerization domain protein (NOD) 1 (PubMed:17215377). Not detected in bloodstream, and strongly impaired colonization in liver and spleen of mouse injected intravenously by Listeria compared to wild-type. Secretion of cytokines interleukin 2 (IL-2), IL-6, IL-12 and IL-5, chemokines CCL2 and CXCL9, or CCL3 (macrophage inflammatory protein-1alpha) by the liver cells of the infected mouse is similar to wild-type. The virulence of a double oatA/pgdA deletion mutant is more reduced than that of either single mutant as detected by lack of colonization in the bloodstream, liver and spleen of infected mouse 24 hours postinfection (PubMed:21844299). Massive reduction of resistance against lysozyme compared to wild-type. Most mutant cells are lysed within the first 30 min of lysozyme exposure (PubMed:29215169)
Cells have an abnormal spore morphology and show a greatly reduced spore viability. No defects in the overall morphology of the structures were observed during development, except for a delay of 3-4 hours in culmination. Prestalk gene expression is normal. Expression of the prespore marker cotB is unaffected whereas expression of the spore gene spiA is greatly reduced. Mutant spore show no formation of mature actin rods. The spore outer layer gets wavier as the spore ages and suffers a progressive degradation
Viable, but exhibit slower development and have reduced body fat (PubMed:27746047). RNAi-mediated knockdown results in increased sensitivity and reduced survival in response to lower temperatures (PubMed:27746047). RNAi-mediated knockdown results in increased expression of the transcription factor ets-4 in the nuclei of intestinal cells, which may further result in changes in the expression of genes involved in lipid metabolism (PubMed:27746047). RNAi-mediated knockdown also causes a defect in the clearance of apoptotic cell corpses in hermaphrodite gonads (PubMed:18425118)
Abolished brassinosteroid (BR)-induced ASK7/BIN2/SK21 degradation, and severe BR-insensitivity. Suppression of the constitutive BR-response phenotype in the dominant mutant bzr1-1D, and accumulation of phosphorylated BZR1
RNAi-mediated knockdown results in increased sensitivity to gamma irradiation
Suppresses the olfactory plasticity defect in nep-2 mutants, which are defective in the plasticity of chemotaxis to benzaldehyde. Double mutants of snet-1 and daf-22 suppress the daf-22 mutant olfactory plasticity-defective phenotype to levels similar to wild-type
Decreases secreted carboxylic ester hydrolase activity during growth on cutin carbon source (PubMed:17704215). Decreases conidiation and results in abnormal germling morphology (PubMed:17704215). Impairs penetration of the host epidermis and decreases virulence in rice and wheat (PubMed:17704215)
Reduced volume of the seed coat mucilage due to reduced levels of rhamnogalacturonan I (RG-I) in the seed coat mucilage
Deficient mice completely lack skeletal muscle and die immediately after birth because of respiratory failure
Causes an abnormal morphology of acidocalcisomes, a significant decrease in the amount of polyP and a deficient response to hyposmotic stress
Late-flowering phenotype when grown under long-day conditions. Increased drought tolerance and sensitivity to necrotrophic pathogens. Increased resistance to hemibiotrophic fungal pathogen F.oxysporum
Severe developmental defects in male gametocytogenesis leading to a reduction in the number of mature gametocytes (PubMed:29866905). Impaired male gametocyte exflagellation. Female gametogenesis is normal (PubMed:29866905). Defects in zygote-to-ookinete development (PubMed:29866905). Severe reduction in the number of oocysts in the midgut of mosquitoes fed on mice infected with knockout parasites (PubMed:29866905). Normal asexual development in host erythrocytes (PubMed:29866905)
Weak defect in the extension of body wall muscle connections or arms towards the ventral nerve cord. Double knockout with madd-3 suppresses the muscle arm extension defects, eva-1 expression defects and restores the defect in the recruitment of madd-4 to the muscle membrane in the madd-3 single knockout. Triple knockout with madd-3 and unc-54 results in paralysis (as in the unc-54 single knockout), and suppresses the lethality phenotype in the double madd-3 and unc-54 mutant
Migrating slugs frequently fragment and the basal disk of the culminants that are formed are absent or much reduced
Yellow-green leaves and significantly reduced plant size. Impaired rRNA processing and translation in chloroplasts
Shows altered cell wall composition with a significant decrease in wall mannoproteins. Impairs biofilm formation and shows reduced virulence in a mouse model of hematogenously disseminated candidiasis (HDC) and using reconstituted human epithelium (RHE) or engineered human oral mucosa (EHOM)
Deletion causes a vacuolar protein sorting defect
No visible phenotype when grown under normal conditions. Hypersensitivity to ionising radiation (IR) and to methylmethane sulfonate (MMS). Longer telomeres
Pale-green phenotype, reduced growth and altered structure of chloroplasts (PubMed:22905186, PubMed:31128276). Defect in photosystem II (PSII) function with strongly reduced levels of core subunits, including psbE, psbF, psbL and psbJ cotranscribed from psbEFLJ (PubMed:31128276). Enhanced osmotic stress tolerance and altered sugar responses during seedling establishment (PubMed:22905186)
Increased resistance to pathogens. Simultaneous knockdown of akt-1 and akt-2 result in dauer formation and a weak extension to life span
RNAi-mediated knockdown in the bloodstream form inhibits cell population growth and leads to gross morphological changes and multinucleation (PubMed:19450734). RNAi-mediated knockdown in the procyclic form inhibits cell population growth and decreases ZC3H11 phosphorylation (PubMed:27002830)
Both male and female with knockout of the gene are viable but sterile, consistent with the fact that the gene mediates metaphase II arrest but does not interfere with mitosis. The absence of the gene results in the arrest of meiosis I progression in spermatocytes at early diplotene of prophase I and is associated with a decrease of CDK1 activity
Decrease in the accumulation of several 24-nt RNAs (PubMed:19343051). Reduced DNA methylation and released silencing of RNA-directed DNA methylation (RdDM) target loci promoters (e.g. LTI78/RD29A, YKT61/AtGP1 and AtMU1) without abolishing the siRNA triggers (PubMed:19410546, PubMed:19343051, PubMed:21738482). Suppression of gene silencing mediated by ROS1 disruption in the double mutants ros1 rdm3-1, ros1 rdm3-2 and ros1 rdm3-3 (PubMed:19410546). Loss in non-CG methylation at DRM2-dependent sites (PubMed:21150311). Reduced H3K9me2 at IGN5 and IGN26 loci (PubMed:21738482)
Mice display altered rod phototransduction and neurotransmission, associated with increased light-induced retina damages
Defective in the expression of a set of chemoreceptor genes, and exhibit characteristics associated with altered sensory signaling, including increased lifespan, decreased body size, and deregulated entry into the dauer developmental stage. Exhibit defects in food-induced quiescence behavior
Chlorophyll-defective seedlings with reduced levels of chloroplast-encoded transcripts (e.g. atpB, atpE and rbcL). Delayed light-dependent chloroplast development. Constitutive acclimation to light stress. Suppressor of FLU disruption phenotype; seedlings missing both FLU and SIGF do not bleach when grown under non-permissive dark/light conditions
Affects filamentous growth
RNAi-mediated knockdown on an hlh-1 mutant background causes embryos to become paralyzed and arrested at the 2-fold stage
No visible phenotype under normal growth conditions, but reduced levels of camalexin production during infection by B.cinerea
Shows a slightly altered sensitivity to killing by 4-nitroquinoline-1-oxide and to heat shock; and a 6- to 14-fold reduction of the spontaneous mutation rate of reversion of a HIS4 mutation
Derepression of genes that are usually coregulated by H-NS and Hha (PubMed:23515315)
Drastically reduced growth and lignin content, as well as death after flowering
RNAi-mediated knockdown results in a blistered cuticle phenotype (PubMed:23028364, PubMed:25480962). Resistant to iodide toxicity (PubMed:25480962). RNAi-mediated knockdown in combination with proline supplementation suppresses the effects of exogenous proline alone and increases reactive oxygen species production and reduces the expression of skn-1 transcriptional targets including gst-4 following infection by P.aeruginosa (PubMed:27974198). RNAi-mediated knockdown rescues the enhanced longevity and increased reactive oxygen species production defects in memo-1 mutants (PubMed:28085666). RNAi-mediated knockdown suppresses the nuclear localization of transcription factor skn-1 in memo-1 RNAi mutants (PubMed:28085666)
Cells lacking this gene are viable and grow at the wild-type rate, but show a large reduction in the rate of degradation of the pupylated substrates (PubMed:19028679, PubMed:9282749). Cells lacking the Pup-proteasome system (pup/prcS, prcA and prcB) completely lack pupylated proteins and intact proteasomes; they grow as well as wild-type during the exponential phase, but they show reduced survival after prolonged incubation at stationary phase (17 days after inoculation) and become hypersensitive to nitrogen limitation, and, to a lesser extent, to carbon limitation (PubMed:24986881)
Mice are born at the expected Mendelian rate. They display pancreas islet and alpha-cell hyperplasia and increased glucagon levels, but normal insulin levels. Mice display low blood glucose levels combined with increased hepatic glycogen levels. They develop severe hypoglycemia after prolonged fasting. Mutant mice are fertile, but the females produce only few pups; half of the embryos die before birth, and liveborn pups do not survive more than one day. These pups are much smaller than their littermates and exhibit severe hypoglycemia
Distorted trichomes and altered epidermal cell types
A double darT-darG deletion shows no change in growth in culture, upon infection of mice or upon exposure to a variety of stresses (PubMed:32634279). Another group finds the double knockout gives a competitive advantage over wild-type cells in liquid culture growth experiments (PubMed:34408320)
Strong increase of the starch level in leaves at the end of both day and night periods, but no modification in water-soluble polysaccharides content. No alteration of the amylase-to-amylopectin ratio
No visible phenotype, probably due to redundancy
Mice are smaller than littermates and show coordination defects. There is increased mortality in beginning at about P14, and about 80% die by P28. Less than 20% survive to adulthood, and they are infertile
Highly sensitive to ionizing radiation due to defects in homologous recombination (HR) repair. The percentage of full HR repair is normal but the length of the repair synthesis tracts is increased
Embryo defective and lethality when homozygous
Mice show enhanced novelty-induced activity, reduced anxiety, delayed resynchronization to daylight reversal and weaker muscle strength
Deletion mutants show complete loss of protease secretion
Impaired ribotoxic stress response, leading to reduced lifespan (PubMed:32289254). Abolished phosphorylation of MAP kinase p38 pmk-1 in response to anisomycin treatment (PubMed:32289254)
RNAi-mediated knockdown has no visible phenotype
RNAi-mediated knockdown in oocytes results in increased nuclear size. RNAi-mediated knockdown in oocytes and nurse cells results in irregular distribution of chromatin to the nuclear periphery disrupting karyosome morphology. Simultaneous RNAi-mediated knockdown of nucleoporin Nup154 restores normal karyosome formation
Morpholino knockdown of both gas2l2.L and gas2l2.s resulted in mosaic embryos and impacted the number and distribution of basal bodies on the surface of ciliated cells (PubMed:30665704). As a result, ciliary orientation was significantly reduced (PubMed:30665704)
RNAi-mediated knockdown at the L1 larval stage causes arrest followed by death at the L3/L4 larval stages (PubMed:22768351). RNAi-mediated knockdown at the L4 larval stage does not affect development into adults (PubMed:22768351). However, only 26% of the progeny hatched into larvae which die at the L3 larval stage. RNAi-mediated knockdown at the L4 larval stage or in the germline causes egg compression in their uterus (PubMed:22768351). Fewer oocytes are produced in the oviduct and are endomitotic (PubMed:22768351). This results in a reduced rate of ovulation over time (PubMed:22768351). Oocytes fail to endocytose vitellogenin due to a failure to traffic receptor rme-2 to the cell membrane (PubMed:22768351). Also, embryos display osmotic sensitivity and defect in osmoregulation and cytokinesis probably due to an abnormal eggshell (PubMed:22768351)
Cells lacking this gene do not grow on minimal medium or on 4-methyl-5-(2-hydroxyethyl) thiazole, a thiamine precursor molecule. They do not synthesize 2-methyl-4-amino-5-hydroxymethylpyrimidine
Loss of wingless, vestigial, cut, and E(spl)-m8 expression at the dorsal/ventral (D/V) boundary of the wing disk causing improper boundary specification. This causes defective wing pouch development and consequent thickening of wing veins
RNAi-mediated knockdown increases lifespan
Cells lacking this gene are still able to use propionate as carbon source
Increased stomatal density and formation of clustered stomata by enhanced stomatal development initiation and extension of stomatal cell lineages. No major impact on photosynthesis, except 30% higher CO2 assimilation rates in low-light-adapted plants exposed to high light intensities
Increased elongation of hypocotyls (PubMed:19667208). Reduced root hair length (PubMed:21680836). Reduced content of arabinosylated extensins in cell walls (PubMed:19667208, PubMed:21680836). Increased lateral root formation (PubMed:24619997)
No visible phenotype. Displays smaller nematode-induced syncytia. The UGD2 UGD3 double mutant displays a strong dwarf phenotype and often develops seedlings with severe root defects; cell walls have an altered sugar composition (PubMed:21949134). Ugd2 and ugd3 double mutants display abnormal nematode-induced syncytia (PubMed:22848518)
Longer hypocotyls and roots, as well as greater fresh weight due to plant growth promotion (PubMed:32664862, PubMed:15319482). Enhanced sensitivity to brassinosteroid (BR) in term of plant growth regulation (PubMed:15319482). Increased freezing tolerance to cold treatment (PubMed:32664862). The double mutant b1l ttl exhibits a developmental phenotype and freezing tolerance comparable to the single mutant ttl (PubMed:32664862)
Increased natural killer (NK) cell activity with enhanced degranulation, higher expression of NK cell activating receptors, increased frequency of intermediate and mature NK cells, and greater production of interferon-gamma following murine cytomegalovirus infection (PubMed:23408620). Defective iTreg cell differentiation with impaired Foxp3 expression, reduced stability and suppressor function of iTreg cells and reduced frequency of iTreg cells but not natural regulatory T (nTreg) cells in lamina propria (PubMed:25065622)
Embryonic lethality at 9.5 dpc, due to a neural tube closure defect in the anterior craniofacial region of the neural tube, corresponding to the forebrain/midbrain boundary. Reduced cell proliferation in the neuroepithelium
Deficient mice are fertile and developed normally but exhibit delayed dark adaptation vision (PubMed:15790565). Testis and livers of deficient mice exhibit a lower rate of all-trans-retinal conversion to all-trans-retinol (PubMed:29567832)
Increases frequency of mitochondrial genome loss (PubMed:19300474). Cells show a slight decrease of succinate dehydrogenase (SDH) (PubMed:27532772). Cells lacking BOL1 and BOL3 display defects in a subset of mitochondrial [4Fe-4S] enzymes (PubMed:27532773, PubMed:27532772)
Sterile due to lack of oocytes (PubMed:25439098). Defective locomotion, marked by a 3-fold reduction in speed (PubMed:25439098). RNAi-mediated knockdown causes embryonic lethality (PubMed:19084000). RNAi-mediated knockdown substantially reduces expression of end-1 (PubMed:19084000). RNAi-mediated knockdown abolishes formation of endoderm in 3% of embryos and in 35% of embryos on a mom-5 mutant background (PubMed:19084000)
Mutants exhibit altered gene expression, and after undergoing 16 development cycles some mutant cells displayed reduced growth on axenic medium. DIRS-1 expression was unaffected but Skipper expression was increased in mutant cells after 16 cycles of development. Mutants lacking dmaA exhibit culmination defects including fragmented, transluscent sori, and fewer spores than wild type
Individuals exhibit 4-5 hours delay in development. Development does progress with fewer fruiting bodies and smaller spore heads. No apparent changes in cell cycle regulation
Mutant mice do not differ from wild-type in growth, litter size or life span when maintained in a specific pathogen-free environement (PubMed:17664292). However, they have increased mortality in association with late-onset failed bacterial clearance, and specifically increased neutrophil death (PubMed:17664292, PubMed:30692621). Mutant mice also show a severe defect in the bone marrow reserve of mature neutrophils demonstrating a key role for in cellular homeostasis (PubMed:21683252, PubMed:21248149). In addition, Serpinb1a-deficiency leads to maladaptive beta-cell proliferation in insulin-resistant states (PubMed:26701651)
No effect on bacterial growth. Magnetosomes are wild-type in number and size, but slightly less regularly spaced. Magnetite crystals are smaller, irregularly shaped instead of cubooctahedral, crystal growth may be incomplete. Magnetite-associated proteins Mms5, MamC and MamD levels are significantly decreased (PubMed:21169637). Single non-polar gene mutation has a slightly reduced magnetic response, crystals are smaller and elongated (PubMed:22716969, PubMed:27759096). Magnetite crystals are elongated and their surface structure is altered, iron uptake is wild-type (PubMed:24961165). Deletion of the probable mms6 operon (amb0955, mms6 and mmsF) leads to weak magnetic response and much smaller, elongated magnetite crystals (PubMed:22716969)
Severe dwarf phenotype, with small and round dark-green rosette leaves as well as wide and short petioles
Causes a delay in cell death during embryogenesis characterized by a decrease in the number of cell corpses at the comma and 1,5 fold stage and an increase in the number of cell corpses between the 2-fold and the 3-fold stages
Morpholino knockdown in the whole cochlea, especially in hair cells and spiral ganglion neurons causes a dose-dependent hearing loss
Single sspA deletion, bacteria invade human dental roots less well, adhere less well to collagen, decreased accumulation of mature SspB; double sspA-sspB deletion, no invasion of dental roots, collagen adherence is further reduced, as is chaining on soluble collagen (PubMed:9393810). Triple sspA-sspB-hsa deletion no longer causes human platelet aggregation; double sspA-sspB deletion still causes platelet aggregation (PubMed:19884334). Double sspA-sspB adheres better to human epithelial cells and is internalized better than wild-type cells, but induces less host cytokine production (IL-6, IL-8, monocyte chemotactic protein). Stimulates less cytokine production in mouse bone marrow-derived dendritic cells (IL-6, IL-10, IL-12, tumor necrosis factor). Increased sensitivity to antibiotics polymyxin B and nisin, and human histatin-5 (His3-(20-43)-peptide, HTN3). In intranasal mouse infection, the double mutant is cleared less quickly from lungs, neutrophil, hemokine and cytokine production are delayed or reduced (PubMed:22609749)
No visible phenotype (PubMed:11017084)
No visible phenotype under normal growth conditions, but the double mutant plants mbr1-1 and mbr2-1 show delayed flowering
RNAi-mediated knockdown results in failure to emerge from the pupal case and in lethality
A single srtE1 deletion, has a significant delay in aerial hyphae formation when grown on minimal medium, but no delay on rich medium. Nearly wild-type levels of ChpC are attached to the cell wall. A double srtE1-srtE2 knockout grown on minimal medium has a more severe delay in aerial hyphae formation and does not make spores, on rich medium initiates aerial hyphae formation later than wild-type and does not make spores. In the double mutant no ChpC is attached to the cell wall in liquid medium, on solid minimal medium chpD, chpF (SCO2699), rdlA and nepA are transcribed poorly or not at all (with no change in chpH), while very few spore chains or rodlets are seen on the aerial hyphae
Male sterility due to distorted pollen grains lacking reticulate exine pattern
Reactivated transcription of heavily methylated silent loci, independently of chromatin demethylation. Releases TSI, 5S ribosomal RNA genes as well as 180-bp and 106B repeats of chromocenters silencing independently of chromatin properties. Partial derepression of 35S promoter homology-dependent TGS in transgenic plants. Abnormal aberrant mRNA transcriptional read-through. Increased expression of minor 5S rRNA species. No nuclear organization alteration
Deletion of both ligA and ligN is lethal
Larval lethal (PubMed:12471440). Conditional RNAi-mediated knockdown in larval wing imaginal disks results in reduced levels of trimethylated 'Lys-4' in histone H3 (PubMed:25310983). RNAi-mediated knockdown in neurons, does not affect mushroom bodies alpha lobe development (PubMed:30078725). Simultaneous RNAi-mediated knockdown of wds and Tet results in enhanced mushroom body alpha lobe development defects compared to the single Tet knockdown (PubMed:30078725)
Reduced root and root hair length due to defect in epidermal cell growth and enlargement. Reduced size of vacuole and increase in the proportion of cytoplasm in root hair cells. Strong reduction in the cell wall thickness of fibers, vessels and pith cells in the inflorescence stems. Reduced cellulose content and altered composition of the cell wall. Altered organization of the actin cytoskeleton
Defective SNAP-25 function, which causes neurodegeneration by impairing SNARE-complex assembly (PubMed:22187053)
Knockdown of the expression into neural stem cells of the mouse neocortex causes a neuronal migration defect
Cells lacking this gene display M1P accumulation and trehalose sensitivity. These phenotypes are suppressed in mutants lacking both glgE and treS or both glgE and mak. Deletion of glgE does not increase glycogen content
Mice are born at the expected Mendelian rate and appear grossly normal during the first six weeks of life. After six to nine months, they display pronounced unsteadiness of gait and difficulty in supporting themselves on their hindlimbs, weight loss due to an inability to feed and labored respiration (PubMed:10839370). Their sensory, motor and vagus nerves show extensive demyelination with demyelinated segments surrounded by focal thickenings (PubMed:10839370, PubMed:18205176). In contrast, the predominantly sensory saphenous nerves are extensively hypermyelinated, resulting in myelin sheath infolding and axon compression (PubMed:10839370). At eight months, naked or thinly myelinated axons are common in sciatic nerve fibers (PubMed:10839370). Already at six weeks, mutant mice display markedly increased sensitivity to noxious mechanical and thermal stimuli (PubMed:10839370). Besides, four month old mutant mice display impaired remyelination after crush injury (PubMed:10839370). Schwann cells from mutant mice display a reduced rate of elongation, leading to decreased distances between nodes of Ranvier and reduced velocity of the transmission of nerve impulses; this results in impaired motor skills on the RotaRod in three week old mice (PubMed:15356632). Peripheral nerves show decreased conduction velocity, due to defects in the myelin sheath (PubMed:10839370). Motor axons from five month old mice show an increased number of preterminal branches that arise from demyelinated regions close to the neuromuscular junction (PubMed:18205176). In contrast, axon branching close to the neuromuscular junction appears normal in three week old mice (PubMed:18205176). At the molecular level, gene disruption impairs formation of Cajal bands and location of Drp2 in patches that colocalize with appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane (PubMed:15356632). Cytoplasm from mutant Schwann cells forms a concentric ring under the cell membrane, instead of being strictly compartmentalized at Cajal bands (PubMed:15356632). The transport of the mRNA coding for Mbp is impaired; the mRNA level is highest in the perinuclear region and does not accumulate in the paranodal region (PubMed:15356632). Eye lenses from 90 day old mutant mice appear grossly normal at the macroscopic level, but display altered shape and organization of inner lens fiber cells, together with alteration in the membrane localization of Mip, Ezr and Ahnak (PubMed:21745462)
Impairs the production of aurofusarin and leads to the accumulation of a light yellow pigment (PubMed:16879655)
Completely abolishes the production of asperfuranone (PubMed:19199437). Produces a large amount of intermediates including 2,4-dihydroxy-6-(5,7-dimethyl-2-oxo-trans-3-trans-5-nonadienyl)-3-methylbenzaldehyde (PubMed:19199437)
Impairs the production of fumihopaside A
Reduced expression of MYBS1 and AAMY3 under glucose starvation. Accumulation of MYBS1 and AAMY3 in the presence of glucose. Retarded seed germination and seedling growth
Disruption mutant has increased levels of cyclic di-GMP. Mutation leads to reduction in both swarming and twitching motility, to a decrease in pyocyanine production, to a reduction in the extracellular levels of the ExoS effector, and a reduction in virulence. It produces a flatter biofilm
No production of viable pollen. Degeneration of pollen occurs soon after microspore release from the tetrads, at which time the tapetum also appears abnormally vacuolated. Abnormal presence of ultrastructural features of apoptosis (PCD) in microspores, but lack of normal PCD in tapetum. Disturbed inflorescence branching and floral development. Impaired cell wall modifications after primexine formation within the callose wall, accompanied by reduced internal intine wall
Males are infertile with reduced testis size and aspermia (PubMed:14567973, PubMed:14738878). Spermatogenesis fails at the pachytene spermatid stage with apoptosis of germ cells (PubMed:14567973, PubMed:14738878). When fed on a thiamine-free diet, animals develop additional phenotypes including diabetes mellitus, profound hearing loss, and defective hematopoiesis (PubMed:12393806, PubMed:14567973, PubMed:16642288). Pancreatic morphology appears to be normal although insulin secretion is significantly impaired (PubMed:12393806). Erythroid precursors in the bone marrow are almost completely absent leading to loss of reticulocytes in the peripheral blood (PubMed:14567973). The hearing loss phenotype is specifically associated with loss of cochlear inner hair cells (PubMed:16642288). These phenotypes can be reversed in many cases by re-introduction of a high thiamine diet (PubMed:12393806, PubMed:14567973, PubMed:16642288). Thiamine uptake by pancreatic acinar cells from knockout mice was found to be significantly lower than uptake by pancreatic acinar cells of the wild-type littermates (PubMed:22194418)
Increases the sensitivity to osmotic and oxidative stresses as well as to cell wall damaging agents when sakA is also deleted (PubMed:26878695). Affects virulence when sakA is also deleted (PubMed:26878695). The double sakA/mpkC deletion also abolishes mpkA phosphorylation (PubMed:26878695)
Dwarf plants with disorganized shoot apical meristem, stem fasciation, abnormal floral structure, delayed flowering and sterile flowers. Reduced cell numbers in aerial organs
Plants show marked reduction in leaf blades elongation, plant height, panicle size and grain filling
Silenced plants fruits have a rapid ripening with a quick colouring and associated with higher abscisic acid (ABA) levels. When disrupted in fruits, altered expression of ABA-responsive and ripening-related genes
Cells lacking this gene are unable to grow on octanoate, decanoate, dodecanoate, or oleate as the sole carbon and energy source, but grow well on acetate, while the wild-type strain can grow on acetate, dodecanoate, and oleate
No visible phenotype. Myob1, myob2, myob3 and myob4 quadruple mutant has a significant height reduction, a reduced rosette diameter and a delayed flowering
Attempts to disrupt this gene in the wild-type background of Synechocystis only allow to obtain heteroplasmic disruptants. These cells accumulate a substantial amount of protoporphyrin IX
Mice exhibit impaired sperm motility and male subfertility and flagella show an asymmetric waveform pattern, which leads to a circular motion of spermatozoa
Cannot be insertionally inactivated suggesting it has an essential function (PubMed:9187367, PubMed:10542282)
Mutants develop normally but have enhanced arterial neointimal hyperplasia in response to injury (PubMed:20139355). Animals show an accelerated bone regeneration comparing to in wild-type mice (PubMed:24722330)
RNAi-mediated knockdown abolishes metaphase and spindle midzone-specific smo-1 conjugation during the first embryonic mitotic division. RNAi-mediated knockdown disrupts the anchoring of telomeres to the nuclear envelope in embryos, but not in muscle nuclei (PubMed:24297748). RNAi-mediated knockdown results in ectopic tbx-2 expression in seam cells, the gut and in the syncytial hypodermis (PubMed:25873636)
Dwarf phenotype. Strong reduction of secondary wall thickness, collapsed xylem vessels and reduced xylan content in cell wall
Severe defects in plant growth and development. Delayed dark-induced leaf senescence. Dwarfism, defective sporogenesis and shorter primary roots. Impaired protoxylem development
Failure to shed the cuticle at the end of the first molt resulting in an arrest at the L1 to L2 transition stage. RNAi-mediated knockdown results in a less severe phenotype characterized by a failure to shed the cuticle only in the middle part of the body at the end of the first molt. In hyp7 syncytium, RNAi-mediated knockdown results in the apical membrane accumulation of lrp-1 and mislocalization of several components of the endocytic machinery
Abnormal female gametogenesis and altered embryo development with a disturbed cellular division pattern (PubMed:20877469). Increased rRNA expression and hypomethylation of rRNA promoters (PubMed:20877469)
Not essential, disruption of rpfA alone has no effect on growth or survival in liquid culture, nor in mouse infection models, although cells are clumpy after 2 weeks in stirred culture. Alterations in gene expression are seen. All 5 genes in this family can be deleted without affecting growth in culture, however triple deletion mutants (rpfA-rpfC-rpfB or rpfA-rpfC-rpfD) are not able to resuscitate spontaneously in the presence or absence of O(2), and are attenuated in a mouse infection model
No phosphorylation of Wzc (PubMed:11090276). Loss of mucoid colony phenotype, greatly increased susceptibility to contact-dependent growth inhibition (CDI) (PubMed:18761695)
Worms display a small body size, reduced number of progeny produced and partial embryonic lethality due to defects in import of proteins into mitochondria
Late heading, altered kernel color and viviparous phenotypes
Impaired development resulting in embryonic and perinatal lethality (PubMed:10655551, PubMed:12539045). Serious developmental anomalies including acrania, exencephaly, cleft palate, omphalocele and limb abnormalities (PubMed:10655551). Mice disrupted in the germ line for only one allele of Hic1 develop many different spontaneous malignant tumors, including a predominance of epithelial cancers in males and lymphomas and sarcomas in females (PubMed:12539045). The complete loss of Hic1 function in the heterozygous mice seems to involve dense methylation of the promoter of the remaining wild-type allele (PubMed:12539045)
Embryonic lethal; absence of organized node and notochord formation, which leads to secondary defects in dorsal-ventral patterning of the neural tube. Mice deficient for Fox1a and deficient for Foxa2 in the endoderm from 8.5 dpc onwards do not show hepatic bud formation. Mice deficient for Fox1a and deficient for Foxa2 in the midbrain from 10.5 dpc onwards show almost complete loss of mDA neurons. Mice deficient for Fox1a and deficient for Foxa2 in the embryonic liver show hyperplasia of the biliary tree due to at least in part activation of IL-6 expression, a proliferative signal for cholangiocytes. Mice deficient for Fox2a in pancreatic beta cell show hypoglycemia and disorganized islets arrangements
Vegetative bacilli mutant cells exhibit a distinct morphology in which individual bacilli appear kinked with frequent curves and sharp angles among chains of bacilli. Grows more slowly than wild-type bacteria. Affords resistance of vegetative B.anthracis bacilli to human chemokine CXCL10 regardless of their growth phase and to murine Cxcl9-mediated bactericidal activity. CXCL10 treated spores fail to germinate and resume vegetative growth indicating that FtsX is not required for the ability of CXCL10 to target the spore form of B.anthracis. In the absence of FtsX, CXCL10 is unable to localize to its presumed site of action at the bacterial cell membrane. No statistically significant differences are observed between wild-type and deletion mutant bacilli susceptibility to cationic antimicrobial peptide protamine
Impaired gametogenesis (PubMed:18452584). Gametocytes are morphologically normal up to and including stage V of development; however, gametocytes fail to round up upon stimulation of gametogenesis with xanthurenic acid and levels of exflagellation are severely reduced (PubMed:18452584). Higher levels of intracellular cGMP in stages III to V gametocytes (PubMed:18452584)
Simultaneous disruption of CBR1 results in resistance to diphtheria toxin and K.lactis killer toxin
No obvious defect in N-glycan composition
Morpholino knockdown of the protein causes severe development defects and accumulation of DNA damage
Deletion of the gene does not affect growth on N-acetyl-D-galactosamine, D-galactosamine or N-acetyl-D-glucosamine
Impairs the ability to undergo asexual reproduction with abnormal morphology of conidiophores and only small numbers of dysmorphic conidia exhibiting precocious germination (PubMed:16207816, PubMed:19028996). Displayed reduced expression of the catalase gene cat1 and hypersusceptibility to hydrogen peroxide (PubMed:16207816). Impairs the production of ergot alkaloids such as chanoclavine-I, festuclavine, fumigaclavine A, fumigaclavine B, and fumigaclavine C (PubMed:23925951). Impairs A.fumigatus immunoglobulin E-independent mast cell degranulation induction (PubMed:19527167)
Embryonic lethality when homozygous, due to embryo and endosperm developmental arrest at various stages ranging from the zygote stage to the globular stage. Failure in the fusion of the polar cells in embryo sac development
Mice display normal neutrophil maturation and function including appropriate migration into sites of inflammation and response to bacterial infection. Following inflammatory stimulus in the peritoneal cavity, they display decreased levels of Cxcl13 due to the migration of resident Cxcl13-expressing macrophages from the peritoneal cavity during the inflammatory response
Mice are viable and healthy. Females display normal fertility while males are sterile due a non-cell autonomous defect in sperm maturation. It is associated with the absence of tall columnar epithelial cells with long microvilli in the proximal part of the caput epididymidis
No visible phenotype under normal growth conditions (PubMed:18285452, PubMed:25211139). The double mutants rrp6l1 and rrp6l2 have a late flowering phenotype (PubMed:25211139)
Morpholino knockdown causes significant reduction in expression of embryonic alpha globin e1 hbae1.1 in 22 hpf (hours post fertilization) and 36 hpf embryos
Dramatic increase in root nodule number when inoculated with Rhizobium strains (PubMed:21742814, PubMed:21802605). Inhibition of root growth in both the presence and absence of rhizobia (PubMed:21742814, PubMed:21802605)
RNAi-mediated knockdown in male salivary glands, decreases chromosome X gene expression (PubMed:34133927). Simultaneous RNAi-mediated knockdown of mof with RNAi-mediated knockdown of Mtor in male salivary glands rescues the decrease in chromosome X gene expression (PubMed:34133927)
Decreases chitosan levels during growth in host tissue (PubMed:30459196). Attenuates virulence in a mouse intranasal infection model; decreases fungal burden in mouse lung (PubMed:30459196). Triple knockout of CDA1, CDA2 and CDA3 results in an absence of cell wall chitosan, melanization of surrounding media, an increase in capsule size, sensitivity to cell wall (sodium dodecyl sulfate), osmotic (NaCl) and heat stress, and avirulence in a mouse intranasal infection model (PubMed:17400891, PubMed:21784998, PubMed:32071275, PubMed:27165801, PubMed:22354955)
No visible phenotype under normal growth conditions, but when grown with urea as the sole source of nitrogen, plants show reduced growth and slight yellowing of shoots
Rescues partially CLV3 disruption. When associated with BAM1 disruption, abnormal anthers at a very early stage and later lack of endothecium, middle and tapetum layers. Loss of stem cells at the shoot and flower meristems
Female mice are infertile and eggs do not fuse with normal sperm (PubMed:24739963). Both male and female mice develop normally and are overtly healthy (PubMed:24739963). Male mice are fertile (PubMed:24739963). Despite infertility, female mice display natural mating behaviors, as assessed by vaginal plug formation and the presence of motile sperm in the reproductive tract when paired with fertile males (PubMed:24739963). They respond to hormone treatment by ovulating morphologically normal eggs at numbers that do not significantly differ from wild-type (PubMed:24739963). However, eggs are not fertilized and have more sperm within their perivitelline space compared to wild-type eggs, demonstrating that the zona pellucida of eggs cannot be penetrated by sperm in vivo (PubMed:24739963)
Embryonic lethality: mice display severe neural tube defects associated with autophagy impairment, accumulation of ubiquitinated proteins, unbalanced cell proliferation and excessive apoptotic cell death (PubMed:17589504). Cells show an accumulation of cyclin-D proteins (Ccnd1, Ccnd2 and Ccnd3), correlated with an increase in retinoblastoma (RB) protein family phosphorylation, leading to increased cell proliferation (PubMed:33854232, PubMed:33854235). Conditional knockout mice lacking Ambra1 in the nervous system display an increase in the volume of the cortex and the lateral ventricles, associated with an enhanced rate of proliferation in the whole 13.5 dpc brain and in the olfactory bulbs of the 18.5 dpc brain (PubMed:33854232). Ambra1 deletion in a mouse lung cancer model leads to increased cell proliferation, formation of replication stress and chek1/Chk1 activation; cells are hypersensitive to chek1/Chk1 inhibition (PubMed:33854232). Impaired regulatory T-cells (Treg) differentiation, leading to worsen disease pathogenesis in a mouse model of multiple sclerosis (PubMed:30513302)
Deletion of the gene results in loss of acid-fast staining, which is a simple and rapid diagnostic test for detecting M.tuberculosis (PubMed:17360388, PubMed:22516756). The region between the inner and outer membranes of the mutant, which is composed mainly of cell wall anchored mycolic acids, shows a significant decrease in electron density as compared to the wild type. It suggests that altered mycolic acids patterns in the mutant may have affected the packing of the lipid rich layer of the M.tuberculosis cell envelope, resulting in a reduced electron density of this layer and loss of acid-fastness in light microscopical observation (PubMed:22516756). Mutants synthesize mycolic acids that are 2-6 carbons shorter than wild type and show a significant reduction in the abundance of keto-mycolates (PubMed:12950920, PubMed:17360388). Deletion of the gene affects mycolic acid trans-cyclopropanation, alters the colony morphology and abolishes classic serpentine growth (PubMed:17360388). Mutants exhibit strikingly altered cell wall permeability, leading to a marked increase in susceptibility to lipophilic antibiotics and the host antimicrobial molecules defensin and lysozyme (PubMed:12950920). Deletion mutant can persist in infected immunocompetent mice for up to 600 days without causing disease or mortality (PubMed:17360388)
Intranasal infection of C57BL/6J mice with knockout fungi severely impairs Arg1 mRNA expression in lung interstitial macrophages, causes a modest reduction in lung eosinophil recruitment while levels of Il4-dependent IgG1 class switching and cytokine production in CD4(+) T-cell are not affected (PubMed:35896747). Causes a decrease in type 2 inflammation and in fungal burden in the lung and the brain resulting in mouse survival (PubMed:35896747). Abolishes Il4-independent and Il4-dependent Arg1 expression in mouse bone marrow-derived macrophages (mBMDCs) (PubMed:35896747). Partially defective in suppressing iNOS expression and nitric oxide production induced by lipopolysaccharide (LPS) and Ifng in mBMDCs (PubMed:35896747). No growth defect at 37 degrees Celsius (PubMed:35896747). Impairs capsule formation (PubMed:18854164). However, in strain KN99, appears to be dispensable for capsule formation (PubMed:35896747)
Reduced oil content in seeds (PubMed:10759515). Absence of starch granules in both the hypocotyl endodermis and the root columella associated with reduced hypocotyl negative gravitropism but normal phototropism, leading to axillary branches with wider branch angles (PubMed:34367195)
Mutant females are unable to efficiently secrete milk lipid and to nurse the offspring. They show normal mammary gland morphogenesis in puberty and alveologenesis in pregnancy, but are defective in triggering the onset of lactation upon parturition with large cellular lipid droplets retained within alveolar epithelial cells (PubMed:29420538). Mice are more sensitive to cold temperature, with impaired cold-induced transcriptional remodeling in brown fat and diminished browning of inguinal white fat (PubMed:28784777)
In a strain that encodes a retron, the msDNA is abnormally sized
RNAi-mediated knockdown induces autophagy in larvae under basal and fasting conditions with larvae showing an increased number of autophagosomes. Decreased larval survival following treatment with tunicamycin. Impaired pupal salivary gland degradation with pupae undergoing autophagy prematurely by six hours after puparium formation. Increased adult survival during nutrient starvation
Inward rolled leaves due to the presence of defective sclerenchymatous cells on the abaxial side of the leaf (PubMed:26873975). Narrow leaves and reduced plant height (PubMed:26873975)
The nirDLGH mutant lacks dissimilatory nitrite reductase (NIR) activity. The NIR activity is restored by adding purified heme d1
Increases sensitivity to calcofluor white and Congo red
No visible phenotype under normal growth conditions, but mutant plants exhibit severe editing defects in chloroplastic transcripts
Produces only fumonisins B2 and B4, both of which lack the C-10 hydroxyl (PubMed:16536629)
No visible phenotype under normal growth conditions, but mutant plants exhibit increased susceptibility to drought stress
Defective in female gametophyte development and micropylar pollen tube guidance leading to zygotic lethality. Reduced size of nucleoli of polar nuclei in female gametophyte
Mice exhibit altered sleep and locomotor activity. Show alterations in sleep homeostasis, altering the electrophysiological properties of neurons after sleep deprivation. Display normal patterns of sleep throughout the light period, however during the active, nocturnal period, they remain awake nearly continuously for the first 8 to 9 hours of darkness and tend to fast rather than readapt to eating in daylight. Exhibit a dysregulation in the lipid and fatty acid metabolism pathways and a significant reduction in daytime contrast sensitivity. Null mutant mice and the mice with a conditional knockdown in the ventral striatum show a reduced anxiety-like behavior and a reduced sensitivity to diazepam (PubMed:29163035)
RNAi-mediated knockdown causes impaired survival and slower volume recovery upon hypertonic stress
Reduced basal resistance to Pseudomonas syringae pv. maculicola ES4326 and P. syringae pv. tomato DC3000. Impaired systemic acquired resistance (SAR) induced by P. syringae toward Hyaloperonospora arabidopsidis Noco2. Plants lacking both SARD1 and CBP60G fail to accumulate salicylic acid (SA) and to express PR1 and SID2 upon both biotic and abiotic stresses
No visible phenotype under normal growth conditions, but mutant plants are hypersensitive to drought stress, and have decreased sensitivity to abscisic acid-induced germination inhibition and oxidative stress-induced growth inhibition
Mice are viable and fertile without gross abnormalities
No visible phenotype under normal growth and stress growth conditions
Reduced brassinosteroid (BR)-mediated quiescent center (QC) cells division
Cells lacking this gene fail to grow on both D and L isomers of alanine due to a defect in DadA dehydrogenase activity, preventing D-alanine utilization (PubMed:21754980). The mutant cells do not have appreciable nucleoside phosphoramidase activity (PubMed:21754980, PubMed:15703176). The loss of hinT results in failure to grow in media containing 0.75 M KCl, 0.9 M NaCl, 0.5 M NaOAc, or 10 mM MnCl(2) (PubMed:15703176)
No visible phenotype under normal growth conditions. When grown at 10 degrees Celsius, the double mutant seedlings reil1-1 and reil2-1 show growth arrest at two cotyledon stage and die
Reduced hypocotyl bending and dose-dependent altered root gravitropism with an impaired formation of auxin gradients, thus leading to an irregular waves root shape
No visible phenotype. Vln2 and vln3 double mutants show absence of thick actin filament bundles in the cells, anomaly in the growth direction of organs (PubMed:22209875) and defects in sclerenchyma development, but no alterations in the secondary cell-wall machinery (PubMed:22563899)
Mutant females are viable but sterile (PubMed:23913922). They have small and severely deformed ovaries (PubMed:23913921, PubMed:23913922). Soma- and germline-specific transposable elements are severely derepressed in the ovary (PubMed:23913922). Ovaries lack a follicle cell layer and show misexpression of orb (PubMed:23913921)
Growth is normal in asexual blood stages, however uptake of arginine and lysine is decreased (PubMed:21752110, PubMed:28205520). Impaired production of male gametocytes and fertile female gametocytes (PubMed:21752110, PubMed:28205520). Rare gametocytes that are produced have unusual membrane structures (whorls) and large vacuoles in their cytoplasm (PubMed:21752110)
Plants display altered embryo with defects in stereotypical pattern of early embryogenesis
Embryonic lethality when homozygous due to defects in endosperm and embryo
Affects filamentous growths and leads to hypersensitivity to caspofungin
No visible phenotype when grown under normal growth conditions and stunted roots when grown in vitro in absence of sucrose
Mice are embryonic lethal (PubMed:18066067). Null mutant embryos could not be detected even on embryonic day 9.5 (PubMed:18066067). Conditional deletion in macrophages impairs proinflammatory cytokine production in response to Listeria infection and clearance of infecting bacteria (PubMed:25107474). Conditional deletion in B-cells causes a decrease in the splenic B-cell numbers, leading to severe proliferation and activation defects in B-cells (PubMed:26041538). The B-cell viability is also impaired, leading to decreased immune responses to T-dependent and T-independent antigens (PubMed:26041538). Conditional deletion in the cortex leads to severe microcephaly: mice do not survive past birth and exhibit extreme microcephaly, with little dorsal telencephalic tissue and no recognizable cortex (PubMed:27871306). Defects in the cortex are caused to massive cell death of early cortical progenitors (PubMed:27871306). Conditional deletion in somitic muscle precursor cells results in neonatal lethality: mutant embryos show a complete lack of forelimb, intercostal and diaphragm muscles due to extensive apoptosis and loss of myoblasts (PubMed:30801883). Embryos lacking Akirin2 in somitic muscle precursor cells also display severe skeletal defects, including craniofacial abnormalities, disrupted ossification and rib fusions (PubMed:30801883). Conditional deletion in limb bud epithelium leads to soft-tissue syndactyly, characterized by a loss of interdigital cell death and an increase in cell proliferation, resulting in retention of the interdigital web (PubMed:30116001)
Distorted trichomes and reduced numbers of root hairs
RNAi-mediated knockdown results in a hyper-connected mitochondrial network in body wall muscle cells
Defective in formation of mature forespores. Fails to progress beyond very early stages of sporulation. Forespores lack the germ cell wall or cortex and the mother cells are filled with swirls of electron-dense material
Suppression of isoeugenol biosynthesis and reduction of several floral volatiles including phenylacetaldehyde, phenylethyl alcohol, phenyl-ethyl acetate, phenylethyl benzoate and benzyl acetate, but increased accumulation of homovanillic acid and coniferyl aldehyde
Knockouts are viable and fertile (PubMed:9553048). Mutants show alterations in hepatic gene expression, peroxisome proliferation, hypolipidemia, impaired body weight control and neuropathy (PubMed:9553048)
Disrupted formation of elliptical leaf laminae in mature leaves
Mutant animal have a progressive and severe hearing loss at young adulthood (PubMed:23918390). The generation of receptor potentials in hair cells at lower sound pressure is impaired, which leads to a reduction in auditory nerve responses (PubMed:23918390)
Reduced levels of component enzymes and associated factors of the aminoacyl-tRNA synthase complex, lack of complex formation and lethality within two days of birth. Neonates display severe hyperplasia in a number of organs including lung, intestine and liver, lung failure, and disturbed thymocyte proliferation and differentiation. Embryonic fibroblasts deficient in Aimp2 are resistant to apoptosis following UV irradiation
Deletions in the 5'-region of this gene appear to be lethal. Insertion mutations in the central part of this gene abolishes the ability to use nitrate as a sole nitrogen source but not glutamine. In addition, neither uridylylation of PII nor induction of the ntr-regulated glnII gene (encoding glutamine synthetase II) under ammonium deficiency can be observed in mutant strains
Complete embryonic lethality at about 10.5 dpc due to defects in neural tube closure, abnormal somites and abnormal heart looping (PubMed:16155214, PubMed:16459298). Heterozygous mice are born at the expected Mendelian rate and are fertile. After 1.5 years, they develop a skin phenotype characterized by ventral alopecia, increased pigmentation, with papules and nodules on paws and tail (PubMed:16459298)
Mice of infection with knockout parasites have reduced blood parasitemia due to a slower growth at the ring and schizont stages (PubMed:23869529). Parasite burden in vessels of lung and adipose tissue is reduced (PubMed:25820521). Also, the development of experimental cerebral malaria is delayed (PubMed:23869529, PubMed:25820521). In infected host erythrocytes, surface expression of parasite antigens is reduced (PubMed:25043043)
Disruption of the gene abolishes pristinamycin I biosynthesis
Disrupts fly aversion to caffeine
No visible phenotype (PubMed:17234717). In response to ionizing radiation-mediated DNA damage, the number of germline apoptotic corpses is increased, ufd-2 recruitment to nucleoli foci is impaired, the number of ubiquitin foci is increased and rad-51 retention to DNA damage foci is reduced; the increased germline apoptosis is suppressed in a ufd-2 (tm1380) mutant background (PubMed:27669035). At the higher temperature of 25 degrees Celsius, 60 percent of animals are uncoordinated (PubMed:19545544). Shows resistance to heat stress characterized by an increase in survival and expression of heat shock proteins such as hsp-16.2 and hsp-4 (PubMed:21526185). Expression of genes involved in the ubiquitin-proteasome pathway, motility, cell structure and signal transduction is affected (PubMed:17234717). In a cdc-48.1 (tm544) mutant background, causes a 50 percent increase in longevity, a delay in age-related muscle degeneration and resistance to oxidative and heat stresses (PubMed:21317884). In addition, induces dauer formation in 10 percent of animals and increases gene transcription of several genes including sod-3 and hsp-16.2 (PubMed:21317884). The overall levels of polyubiquitinated proteins is not affected (PubMed:21317884). RNAi-mediated knockdown of daf-16 abolishes the increase in lifespan (PubMed:21317884)
No effect on fertility or longevity but mutants display longer periods of daily activity than controls, reduced rest, enhanced sensitivity to mechanical stimuli when inactive and decreased rest rebound in response to rest deprivation (PubMed:16093388). Impaired aversive olfactory memory due to excessive dopaminergic signaling (PubMed:25232310). RNAi-mediated knockdown in neurons causes significant reduction in the sleep-like rest state with total daily resting periods decreased to about half of that of control flies (PubMed:25232310)
The Fap1 protein no longer reacts with a glycan-specific antibody, and migrates as a much larger than wild-type protein. Fap1 is not able to undergo the second glycosylation step. Has defects in biofilm mass accumulation, the biofilm that forms is not as thick as wild-type (PubMed:20164186). Deletion of this gene can be complemented by the ortholog from S.agalactiae strain COH1, but not from S. pneumoniae strain TIGR4 or from S. sanguinis strain SK36 (PubMed:21653318)
Mutans are viable into the adulthod. They exhibit smaller pancreatic islets, defective beta-cell proliferation and decreased blood insulin levels after treatment with a high-fat diet (PubMed:27059959). Beta-cells show increased expression of proteins characteristic of the endoplasmic reticulum stress response (PubMed:27059959)
Knockout mice are viable and are born in normal Mendelian ratios. Knockout males, but not females, exhibit a striking fertility defect, with the majority of males being sterile and a minority producing infrequent and small litters. Sperm from mutant mice exhibits mild to severe teratozoospermia, with structural defects in elongating spermatid nuclear envelope and chromatin detachment associated with abnormal nuclear shaping
Deficient mice show reduced striatal cyclic AMP production and selective alterations in instrumental conditioning
Viable and fertile (PubMed:23112336). Gustatory associative learning in response to salt cues is disrupted (PubMed:23112336). Males have reduced reproductive success, due to a range of aberrant mating behaviors (PubMed:23112335). Double knockouts with ntr-2 partially rescue the reproductive phenotypes (PubMed:23112335)
Embryonic lethality due to 1.5 fold stage-onset paralysis. Mutant embryos have defects in maintaining polarization of several components involved in the assembly of dense bodies and M lines, such as integrin pat-3, unc-89 and unc-112 to muscle attachment sites (PubMed:12015115). RNAi-mediated knockdown causes sterility resulting from oocyte accumulation in the proximal gonad and distal tip cell (DTC) migration defects (33 percent of animals). Actin cytoskeleton in the proximal gonad appears disorganized (PubMed:16476426). RNAi-mediated knockdown results in impaired mobility, mitochondrial fragmentation and disrupted integrin attachment complexes in muscle (PubMed:22253611). This leads to degradation of muscle proteins in the cytosol, myofibrillar defects and disruption of sarcomere organization (PubMed:22253611). RNAi-mediated knockdown in hatched embryos but not in adults causes adult-onset paralysis characterized by the collapse of myosin filaments in body wall muscles and a decrease in pharyngeal pumping (PubMed:24314125). In L1 larval stage, results in the formation of large myosin aggregates in body wall muscle cells (PubMed:22761445). In L4 larval stage, causes ectopic membrane extensions from body wall muscles (PubMed:16495308). In adults, causes an increase in lifespan, resistance to heat stress and increased expression of stress response factors hsf-1, sod-3, hsp-16.2 and gst-4 (PubMed:24314125)
Suppressor of the triploid seed abortion phenotype observed in osd1 and jas-3 mutants, thus leading to enlarged and somewhat fertile triploid seeds production characterized by abnormally normalized parental imprinted genes expression
Short roots associated with both reduced cell division in the root meristem and altered root cell elongation. Early emergence of lateral roots at the root-hypocotyl junction (PubMed:22395740, PubMed:25049386, PubMed:28652362). Reductions in the complexity of vascular networks in cotyledons and discontinuous phloem differentiation (PubMed:25149602, PubMed:22395740, PubMed:25049386, PubMed:28652362). Impaired primary root protophloem differentiation during root development leading to altered phloem long-distance transport (PubMed:22395740). The double mutant vcc ops exhibits a complete loss of high-complexity vascular networks (PubMed:25149602). The double mutant brx ops double mutant has strongly reduced root length and meristem size, with missing protophloem strands (PubMed:28652362)
Mutant does not respond to L-Asp, whereas chemotaxis to D-Asp and L-Glu is significantly reduced. Mutant shows increased c-di-GMP level, a modest but significant increase in biofilm formation and reduced swarming motility. It also shows reduced virulence in tomato plants
Mice were born alive at approximately Mendelian ratios but increased postnatal mortality is observed. Surviving mice show oral lesions as well as palmoplantar keratoderma-like hyperkeratotic calluses on front and hind paws, which impair the ability to walk
Mice display multiple laterality defects including randomization of the L/R axis, left pulmonary isomerism thoracic situs inversus and cardiovascular malformations
Impairs the production of emerecellamide A, C, D, E and F (PubMed:18559263)
Defects affect induction of pyoverdin and related outer membrane proteins
No visible phenotype but displays lower levels of thiols in roots and leaves, and also an affected sulfur balance. Also shows an increased sensitivity to cadmium stress
Mutants show accumulation of both tetrasaccharide- and mannose-linked dolichol phosphate. The final mannose residue of the N-linked glycan decorating the S-layer glycoprotein is not added
Increases cellular chitin level and decreases cellular chitosan level (PubMed:16278457, PubMed:17400891). Swollen cell with abnormal cytokinesis (PubMed:16278457, PubMed:17400891). Melanization of surrounding media (PubMed:16278457, PubMed:17400891). Irregular capsular width (PubMed:17400891). Sensitive to: high temperature, Congo Red (cell wall stressor), caspofungin (cell wall stressor), sodium dodecyl sulfate (cell wall stressor), Calcofluor White (cell wall stressor), caffeine, NaCl (osmotic stressor) (PubMed:16278457, PubMed:17400891, PubMed:31266771)
Not essential in the absence of DNA damage, its deletion renders cells much more sensitive to DNA damaging agents such as UV light, ionizing radiation, alkylating agents and DNA gyrase inhibitors and desiccation-induced DSBs. 5-fold decrease in survival, loss of HR, no change in NHEJ (non-homologous end-joining) or single-strand annealing DSB repair
Mutation does not affect chemotaxis and biofilm formation
Male-sterile phenotype due to the absence of tapetum. Presence of extra microsporocytes in the developing anthers and ovules
Increased endogenous level of zeaxanthin and reduced level of ABA. Reduced size of leaves, inflorescences and flowers, early flowering, increased number of wilted plants, premature seed germination and reduced osmotic water permeability and ability to close stomata. Reduced susceptibility to virulent isolates of P.parasitica and sensitivity to BABA-induced priming
The gatD-murT double mutant displays susceptibility to diverse carbapenem and cephalosporin beta-lactam antibiotics and shows increased susceptibility to plectasin
Mice show impaired responsiveness to noxious heat and capsaicin. Noxious heat- and capsaicin-sensitive currents in DRG neurons are significantly attenuated
Deformed dwarf phenotype and reduced cell adhesion. Hypersensitive to imbalanced C:N ratio
Embryonic lethality when homozygous. Embryogenesis arrested at the torpedo stage
Disruption of the gene results in the enhancement of aprE expression
In the TOR complex 2 mutant background rict-1, RNAi-mediated knockdown suppresses the growth delay and elevated body fat index
Cells lacking this gene are unable to grow on D-arginine or D-lysine as sole nitrogen source
Decreases haze protective activity in white wine
Basal shift of ARAC3/ROP6 and ARAC4/ROP2 positioning and broad lateral localization of D6PK in root hair-forming cells leading to basal shift of root hair positions
Misplacement of the septum during cell division, resulting in the formation of small, circular, anucleate minicells
Displays increased sensitivity to some cell wall disrupting agents including sodium dodecyl sulfate (SDS) and calcofluor white (CFW)
Strongly reduced piperine content in fruits
Not essential for photoautotrophic growth, under CaCl(2) limiting-conditions absolutely required. Impaired recovery after photoinhibition due to impaired assembly of the calcium-manganese-oxide cluster, especially at high light intensities. CP43 (psbC) is more susceptible to degradation, higher turnover of D1 (psbA). Calcium-manganese-oxide cluster assembly is improved in a double psbO-psb27 mutant. A double psbM-psb27 mutant is incapable of photoautotrophic growth, but does assemble the CP43-less assembly intermediate
Abnormal arbuscule development (reduced arbuscule branching and aberrant hyphal branches frequently distorted in shape) during arbuscular mycorrhizal (AM) symbiosis with AM fungi (e.g. Glomus versiforme) characterized by reduced STR and STR2 incorporation into the periarbuscular membrane (PAM) (PubMed:26234213). Normal root nodules development during symbiosis with rhizobium bacteria (e.g. Sinorhizobium meliloti) (PubMed:26234213)
Leads to decreased pigmentation, the lack of the black pigment cell wall layer, but also incomplete multicellular formation (PubMed:28517364). Abolishes the production of scytalone (PubMed:28517364). Significantly reduces the germination rates under UV treatment (PubMed:28517364)
Causes irregular alignment of Purkinje cells in the cerebellum and delayed radial migration in the cortex during brain development. The cardiac-specific deletion prevents pathological cardiac hypertrophy
Mutant animals survive in the expected Mendelian ratios, are fertile and display no overt phenotype. Brain morphology appears grossly normal, except for rare cases of anomalous ventroculomegaly. Increase in the presynaptic area occupied by SLC17A7/VGLUT1 in some strata of the hippocampal neuropil of the CA1 region
Expression of flp in response to carbon starvation stress is completely eliminated in the deletion mutant
Cells are unable to sporulate when in pure population although they will sporulate when in chimerae with wild-type cells. Cells form loose aggregate before disaggregating. Cells aggregate and disaggregate in waves. comC-/lagC-/tgrD1-mutant fails to form spores
Delayed root growth and reduced length and number of lateral roots
Reduction in the length of stem internodes. Increased thickness of veins in leaves and inflorescence stems. Altered morphology of xylem vessel elements. The double mutants of bud2-1 and samdc1-1 are embryonic lethal
'Bang sensitive' phenotype; induction of paralysis with electrical stimulation results in a brief seizure, followed by a failure of the muscles to respond to giant fiber stimulation. This is due to an excitability defect caused by altered membrane phospholipid composition
Reduced plant size and fresh weight
Abolishes invasive growth during nitrogen starvation
The dwarf11 (d11) mutant shows the erection of leaves in mature stages, the shortening of the grain length and of the second internode in culm, and aberrant skotomorphogenesis. Treatment with exogenous brassinolide rescues the abnormal phenotype
Cells show increased sensitivity to hydrogen peroxide and decreased survival at pH 4.0 during stationary phase growth. It is less able to withstand prolonged starvation. It fails to replicate in cultured murine macrophages and is completely cleared from spleens and livers of infected mice 10 weeks after infection
Dwarf phenotype, delayed senescence, collapsed xylem and significant reduction of lignin content in ecotype Columbia (PubMed:19674336). Retarded growth, impaired upright growth, altered leaf morphology, dark green leaves, collapsed xylem and strong decrease in lignin content in ecotype Landsberg erecta (PubMed:11389761)
Mutant mice develop normally and show histologically normal bone marrow, thymus, spleen and lymph nodes. Mice are resistant to the induction of endotoxin shock due to defect in the induction of Tnf in response to LPS. Mice display impaired host defense against T.gondii with reduced parasite clearance and decreased Ifng production. Mice also show increased susceptibility to M.tuberculosis and L.monocytogenes infection
Leads to completely attenuated virulence in a mouse keratitis model
Knockout of the gene increases production of pyocyanine and promotes P.aeruginosa pathogenicity in vivo (PubMed:33134189). Deletion of the gene has no effect on phagocytosis, but it significantly reduces the production of cytokines in murine macrophage-like RAW264.7 cells and human macrophage-like cell line THP-1 (PubMed:33134189). In an acute pneumonia murine infection model, infection with the mutant inhibits cytokine secretion in the lungs but increases the infiltration of inflammatory cells compared to the wild-type strain (PubMed:33134189). In plant assays (poplar and barley), disruption of the gene increases motility and reduces virulence in barley (PubMed:21261818)
Modification of podocyte structure such that the normal octopoid podocyte is simplified to a more amoeboid structure and that the foot processes are shorter and broader than normal. These changes are associated with altered distribution of the podocyte intermediate cytoskeletal protein vimentin/VIM. Mutant animals have a reduced glomerular filtration rate and reduced glomerular nephrin (NPHS1) content. However, there is no evidence of proteinuria. After removal of one or more kidneys, Ptpro-null animals have higher blood pressure than does their wild-type littermates
Enhanced tolerance to osmotic stress (PubMed:23517122). Increased susceptibility to pathogens such as P.syringae and H.arabidopsidis (PubMed:21798943)
Mice are viable. Male germ cells proceed normally from spermatogonia up to the meiotic pachytene stage but fail to enter into spermiogenesis and form mature spermatids (PubMed:23593030), resulting in male infertility. In particular, during spermatogenesis, male germ cells accumulated DNA:RNA hybrids (R-loops), meiotic DNA double-strand breaks, and fails to produce crossovers and meiotic sex chromosome inactivation (MSCI) (PubMed:23593030)
RNAi-mediated knockdown causes a delay in larval to adult development with reduced motility and feeding (PubMed:20600277). Also reduces fecundity in adults (PubMed:20600277). Larvae have molting defects characterized by incomplete cuticle shedding leaving a constriction ring in the larvae anterior part (PubMed:20600277). Reduces survival upon Gram-negative bacterium P.luminescense infection or heat stress (PubMed:20600277, PubMed:24957743). Production of extra- and intra-cellular reactive oxygen species (ROS) and protein oxidation are increased whereas vit-6 transcription and dehydroergosterol (DHE) uptake are reduced (PubMed:24957743). Moreover, causes constitutive daf-16 nuclear localization (PubMed:24957743). Simultaneous RNAi-mediated knockdown of vit-6, rme-2, daf-16 or daf-16 coactivators sir2.1, ftt-2 and par-2 restores normal thermotolerance (PubMed:24957743). RNAi-mediated knockdown in a daf-9 or daf-12 mutant background reduces survival further upon heat stress
Hypomorphic mutations in this gene and the Fdft1 gene were identified, as well as a null mutation in this gene. Cataract onset is associated with the specific combination of Lss and Fdft1 mutant alleles that decrease cholesterol levels in cataractous lenses to about 57% of normal. Cholesterol insufficiency may cause the deficient proliferation of lens epithelial cells in Shumiya cataract rats, resulting in the loss of homeostatic epithelial cell control of the underlying fiber cells and ultimately cataractogenesis
Defects in organ separation due to abnormal cell division and expansion during early boundary formation. Failure in accessory shoot meristem formation
Defective P granule organization and degradation (PubMed:20550938). Early autophagic structures and lgg-1 puncta form an irregular shape and clump together (PubMed:20550938). RNAi-mediated knockdown results in increased lgg-2-positive autophagosomes following fertilization and at later embryonic stages (PubMed:24374177)
Not required for efficient BMC formation; when deleted from an artificial operon (Hoch_5815, Hoch_5812, Hoch_3341, Hoch_5816, Hoch_4425, Hoch_4426, Hoch_5814) being expressed in E.coli, normal BMC shells form
Resulted in a nonaflatoxigenic mutant which accumulates averantin, a bright yellow pigment intermediate (PubMed:9097431)
No visible phenotype, host DNA is methylated on fifth position of 5'-GGTAAG-3' in chromosomal DNA, BREX still confers phage resistance
Impaired camalexin accumulation, reduced synthesis of salicylic acid (SA) and ethylene (ET), and altered expression of pathogenesis-related genes (e.g. PR1, ALD1, BGL2 and PR5) upon some pathogenic infections (e.g. P.syringae) and microbe-associated molecular patterns (MAMPs) recognition. Loss of the systemic acquired resistance response. Reduced fitness characterized by lower seed yield and survival rate. Increased sensitivity to P.syringae, H.arabidopsidis, turnip crinkle virus (TCV) and E.orontii. These phenotypes are reversed by SA treatment. Altered sensitivity to jasmonic acid (JA) and ethylene (ET) signaling. Decreased susceptibility to the fungal toxin fumonisin B1 (FB1) that mediates programmed cell death (PCD). Impaired induction of EDS5/SID1 expression after UV-C light exposure and pathogen attack. Altered LSD1-dependent acclimatization to light conditions that promote excess excitation energy (EEE). Impaired formation of lysigenous aerenchyma in response to hypoxia. Reduced resistance against green peach aphid (GPA, M.persicae) due to increased phloem sap uptake, reduced accumulation of antibiotic activity in petiole exudates, and delayed leaf senescence in insect-infested tissue, including chlorophyll loss, cell death, and senescence associated genes (SAG) expression. Loss of [5-(3,4-dichlorophenyl)furan-2-yl]-piperidine-1-ylmethanethione- (DFPM-) induced root growth arrest and inhibition of stomatal closing mediated by abscisic acid (ABA)
Reduced root hair length and content of hydroxyproline in root cell walls
Impairs the production of ergot alkaloids including festuclavine, fumigaclavine A, fumigaclavine B and fumigaclavine C (PubMed:15933009)
Knockout mice have a body weight and a lifespan similar to wild-type animals. About 10% of the animals start developing cataract at 2 months. At 15 months, 50% homozygous animals are affected. Heterozygous animals develop cataract later, with 10% animals affected at 9 months and 25% at 15
No visible phenotype under normal growth conditions (PubMed:17611796). Tpk1 and tpk2 double mutants exhibit a seedling lethal phenotype (PubMed:17611796)
Mice have no visible phenotype during the first 10 weeks after birth and are fertile. Adult mice have normal body weight, but higher than normal body fat and lower than normal lean mass. They display impaired glucose tolerance and decreased insulin sensitivity, and obesity and insulin resistance are exacerbated by high-fat diet. Their pancreatic juice has greater ability to hydrolyze triglycerides than that from wild-type littermates
Merp-merT deletion mutant is unable to transport mercury into the cytoplasm and shows almost complete loss of the resistance phenotype
Morpholino knockdown of the protein causes situs inversus, a left-right asymmetry defect where organs are placed at a position corresponding to the mirror image of the normal body plan. Causes laterality defects at the level of the heart, viscera and brain (PubMed:29769531). Morpholino knockdown of the protein leads to the formation of a Kupffer's vesicle with reduced volume and dismorphic shape. Morpholino knockdown of the protein interferes with the normal cellular remodeling that gives rise to anterior-posterior asymmetry of Kupffer's vesicle. Cells with a columnar shape persist at the posterior end of the vesicle, contrary to wild-type, where cells display columnar shape at the anterior part of the vesicle, and squamous or cuboidal shape at the posterior end of Kupffer's vesicle. Epithelial cells lining Kupffer's vesicle display an increased number of vacuoles, and disruption of the normal, directed vacuolar trafficking toward the apical cell membrane (PubMed:30139971)
RNAi-mediated knockdown results in a loss of Golgi stacks and affects the organization of the transitional ER (tER) sites. Golgi stacks break down and form clusters of vesicles and tubules. The Golgi stacks that are present have an adherent morphology, including a decrease in stack diameter and total cisternae (stacked and single). The tER sites lose their organization and become dispersed throughout the cytoplasm. However, the efficiency of anterograde intracellular transport is not affected
Mice display hypomyelination, schizophrenia-like behavioral abnormalities and a tendency toward reduced anxiety-like behaviors and up-regulation of inflammatory genes in the brain
Dead cells/corpses fail to be engulfed. Defective in the migration of distal tip cells and gonad development. Actin halos are absent
Mice die early after birth due to severe sensory and sympathetic neuropathies characterized by extensive neuronal cell loss in trigeminal, sympathetic and dorsal root ganglia, as well as a decrease in the cholinergic basal forebrain projections to the hippocampus and cortex. There are for instance 35% fewer cells by 17.5 dpc in the superior cervical ganglion, a major component of the sympathetic system
No visible phenotype. Flies display normal fertility and do not show any transposon activation in the germline
Mutant mice exhibit congenital profound deafness and normal vestibular function. They show disorganized stereocilia bundles with a reduction in mechanotransduction currents and sensitivity in cochlear outer cells (PubMed:24334608). Knockout mice have normal vision function from rod and cone photoreceptors (PubMed:24334608)
No glucokinase activity, no growth phenotype in an otherwise wild-type cell
When grown photoautotrophically on soil is highly light-sensitive with extremely slow growth and pigment deficiency; on sucrose-containing medium under low-light grows like wild-type. Strongly impaired photosynthesis; both PSI and PSII levels are decreased
Viable and fertile with normal body weight gain. Mice exhibit postprandial hyperinsulinemia and hyperglycemia, and impaired glucose tolerance. Three month old animals show severe insulin resistance in liver and muscle tissue, probably due to chronic insulin exposure
Impairs the synthesis of both terretonin and terretonin C (PubMed:23116177)
Disruption causes a major defect in inosine-dependent germination, but does not significantly affect germination in response to L-alanine
No visible phenotype under normal growth conditions (PubMed:20729381). The double mutants wox4 and wox14 exhibit reductions in vascular cell division (PubMed:23578929)
No visible phenotype. Redundant with BEE1 and BEE2
Increased growth and fresh weight
Cells lacking this gene are no longer able to utilize D-Lys as a sole carbon source for growth, and also the utilization of D-Arg is strongly reduced. The growth of the deletion mutant strain on LB medium is slightly retarded as compared to the wild type, which might indicate that ArgR is also generally involved in amino acid degradation
Exhibits significantly decreased virulence when infecting soybean seedlings
RNAi-mediated knockdown results in embryonic arrest at the 100-cell stage and prevents the embryonic transcription of several genes (PubMed:14726532). Surviving embryos exhibit gastrulation defects with decreased expression of genes involved in gastrulation (PubMed:27541139)
Reduced rosette weight and area at 22 degrees Celsius but not at 28 degrees Celsius
No visible phenotype. Embryo lethal when associated with disruption mutants SUN3 and SUN4
Loss of localization of an exogenous protein, P1121 (ROD_p1121 of Citrobacter rodentium), to outer membranes, loss of cell aggregation when adhesins are over-expressed in a double tamA-tamB deletion mutant
Deletion of yeaV has no effect on the aerobic growth with D-malate as the sole carbon source
Homozygous mice for the PXDN gene show completely or almost closed eyelids with small eyes, having no apparent external morphological defects in other organs (PubMed:31817535). In addition, mice show hair color change and the tail color is white and also have a white spot at the ventral and dorsal region at a frequency of about 94.1%. Some of mutants have severe cataracts in the eyes (PubMed:31817535)
Cells lacking this gene accumulate 7,8-didemethyl-8-hydroxy-5-deazariboflavin (Fo) to five times the wild-type levels but do not produce F420. They are also unable to decolorize triphenylmethane dye, and are sensitive to oxidative stress caused by the redox-cycling agents plumbagin and menadione
Impairs the production of aculene or any intermediates
Cells lacking this gene result in the formation of an altered LPS core, but does not appear to disrupt full-length LPS production to an extent that the outer membrane permeability barrier is compromised
Germline biallelic loss of Bcl11a leads to perinatal lethality. Bcl11a +/- mice have a significantly decreased brain volume, affecting both gray and white matter. The limbic system (hippocampus and amygdala) is among the brain regions that are more severely affected. Bcl11a +/- mice display normal novelty-seeking behavior but show long-term social memory defects, impaired sociability, and increased physical activity. Bcl11a +/- mice show dynamic postnatal transcriptional dysregulation in the brain
Worms have widespread defects in embryonic morphogenesis of the posterior body and defects in postembryonic male tail morphogenesis
No visible phenotype; due to the redundancy with ICS1. Mutants are not impaired in salicylic acid accumulation upon induction. Ics1 and ics2 double mutant is seedling lethal due to photosynthetic lesions induced by the lack of phylloquinone
Survives only in heterozygous state. Displays defects in development of male and female gametophytes
Cells show a minor impairment of growth under conditions of reduced temperature and hyperosmotic stress. Fruiting body development and spore production on soil plates is strongly impaired in mutants lacking abpA, but is only mildly affected in mutants on agar plates. Double mutants lacking both abpA and abpC show a marked reduction in growth, cell size and resistance to osmotic shock, and decreased motility and phagocytosis rates. Development is blocked at the tip stage of aggregation, although expression of developmentally regulated genes does not appear to be affected. Double mutants lacking abpA and abpB show a significant reduction in growth and a slight reduction in motility. Development appears to proceed normally until culmination when aberrant fruiting bodies are formed. The phenotypes of the double mutants suggests a partial redundancy in the microfilament system
DNA transfer is completely abolished in deletion mutants. Deletion does not reduce cellular aggregation induced by UV stress
Embryonic lethality (PubMed:19017726). However, when human FCMD disease-causing retrotransposon is introduced into the mouse fukutin gene, alpha-dystroglycan/DAG1 is hypoglycosylated in muscles as is seen in FCMD (congenital muscular dystrophy Fukuyama) patients. Transfer of normal fukutin gene into these knockin mice restores glycosylation of alpha-dystroglycan (PubMed:19017726). Conditional knockout in muscle results in near absence of glycosylated dystroglycan within 18 days of gene deletion. 20 week-old knockout mice show clear dystrophic histopathology and defects in glycosylation near the dystroglycan O-mannose phosphate when excision driven by muscle-specific promoters takes place at 8 dpc or 17 dpc. Earlier gene deletion causes more severe phenotypes (PubMed:22922256)
Defects in metaxylem vessel formation in seedling roots
Rescues temperature-sensitivity of MPT5 deletion
Embryonic lethal. After 8.5 dpc, embryos are smaller, show failure of neural tube closure and abnormal cephalic vascularization. None survive after 14.5 dpc. Visceral yolk sac endoderm cells contain large autophagic vacuoles
No visible phenotype. Hipp20, hipp21 and hipp22 triple mutants are cadmium sensitive
Abolishes CHS3 localization to the bud neck and plasma membrane, with increased protein localization to intracellular vesicles
RNAi-mediated knockdown suppresses the age-dependent paralysis and growth arrest induced by exogenous dipeptide repeat proteins PR50 and GR50
Morpholino knockdown produces morphants which exhibit loss or reduction of dorsal embryonic structures and Wnt signaling deficiency
No visible phenotype (PubMed:30309966, PubMed:30255504). The triple mutant kea4 kea5 kea6 is compromised in cell wall biosynthesis and has small rosettes, short seedlings, and is sensitive to low potassium K(+) availability and to high salinity (e.g. K(+), NaCl and LiCl); it also exhibits a reduced luminal pH in the Golgi, trans-Golgi network, prevacuolar compartment and vacuole (PubMed:30309966, PubMed:30255504). These phenotypes are partially suppressed by the cell wall-derived pectin homogalacturonan trigalacturonic GalA(3) in the dark but not in light conditions (PubMed:30255504)
Mutants show various up-regulated and down-regulated genes, including bop and crtB1
RNAi-mediated knockdown in cells of the pi uterine cell lineage impairs basement membrane (BM) sliding along each other and reduces the size of BM openings
Mice show an increased expression of genes regulating fatty acid utilization and likely contributes to the absence of changes in energy metabolism in the aerobic heart. Display a preference for glucose utilization after ischemia and improve functional recovery of the heart
Deficient mice have no apparent developmental or reproductive abnormality except a defect in their urine-concentrating ability, which resulted in polyuria and polydipsia
No visible phenotype under normal growth conditions, but embryos of mutant plants display a reduced rate of endosperm proliferation during the syncytial phase of endosperm development
Embryonic lethality at a high frequency. Adult female that survive show an enlarged uterus filled with fluid resulting from vaginal atresia
Deletion of dmlR inhibits aerobic growth on D-malate and inhibits the induction of dmlA expression by D-malate and L- and meso-tartrate
pkgB null cells arrest development at the mound stage, have chemotaxis defects and are defective in morphogenesis and multicellular development. Some mounds are able to round up and become almost spherical. Some of the mounds form an aberrant sorus atop an irregular stalk-like structure without proceeding through the normal intermediate stage and without stalk tube. pkbA-/pkgB-cells exhibit growth defects and show stronger chemotaxis and cell-polarity defects than pkbA- cells. They also move slowly and do not aggregate at lower cell densities at which parental strain aggregate normally
Inactivation of the gene does not significantly affect natural transformation
Impairs the production of the xanthones shamixanthone, emericellin and epishamixanthone; and accumulates variecoxanthone A (PubMed:21351751)
Disruption of the gene results in decreased dissemination independent of burden
Disruption of the gene abolishes the production of phenolic glycolipid (PGL). Mutant can still produce phthiocerol dimycocerosate (DIM A) and phthiodiolone dimycocerosate (DIM B)
Increases acid tolerance in rpoS mutants, defective in glucose metabolism
Cells lacking this gene are completely blocked in aerobic growth on fatty acids. The double fadD fadK deletion mutant fails to grow on fatty acids under either aerobic or anaerobic conditions, although fadD mutants grow on fatty acids under anaerobic conditions
RNAi-mediated knockdown causes significant reduction in the expression of 21U-RNAs, upon simultaneous knockdown of fkh-4 and fkh-5
Disruption in the aruF mutant prevents growth on L-arginine
Delayed germination and decreased germination rate
Cells lacking this gene grow as well as the wild-type in the presence of sulfate, cysteine, homocysteine or methionine as sole sulfur source, but do not grow in the presence of cystathionine
Reduced mitochondrial aconitase (ACO) activity by 20 percent (PubMed:17013749, PubMed:17437406). Increased tolerance to oxidative stress mediated by paraquat, a superoxide-generating agent (PubMed:17013749). Altered acetate assimilation leading to lower levels of CO(2), CHO and SO, and higher OAs (organic acids) accumulation, especially fumarate (PubMed:25061985)
TRIM40 deficiency greatly enhances antiviral immune responses and interferon-beta production and thus inhibits viral replication
In the resistant cv. Columbia (glip1-1 and glip1-2), confers susceptibility to A.brassicicola
Deficient mice die within 12 hours of birth with severe defects in motile cilia (PubMed:23418344). Mice also have skeletal malformations (PubMed:26017218). Male mice are infertile because of a severe defect in spermatogenesis (PubMed:29690537). Spermatids display abnormally long manchette structures and defects in the morphology of the sperm head, acrosome, and tail (PubMed:29690537). Additionally, the transport of proteins along the manchette microtubules is disrupted in the elongating spermatids (PubMed:29690537)
Decreased lochnericine production, but increased tabersonine accumulation
More sensitive to Pseudomonas syringae pv. tomato DC3000 infection (PubMed:17933903). Hypersensitivity to abscisic acid (ABA) in germination and root elongation (PubMed:25720833). Short roots with abnormal twisting (e.g. leftward skewing) in media containing microtubule-disrupting drugs (e.g. oryzalin) (PubMed:28848569)
Mutants show no swarming ability
Cells lacking this gene show decreased methylglyoxal tolerance. A double deletion mutant lacking both gloB and gloC exhibits almost no resistance to exogenously supplied methylglyoxal, and is unable to grow at MG concentrations as low as 0.1 mM
Morpholino knockdown of the protein does not apparently affect embryo development (PubMed:26232532). However, the motility of morphants is markedly reduced from 3 days post-fertilization onwards (PubMed:26232532). This is associated with a significant defect in the axonal outgrowth of spinal motor neurons without affecting neuron generation (PubMed:26232532)
Mice lacking Zfp146 in mammary gland display impaired mammary gland development. They cannot sustain full growth of their pups. This phenotype is associated with an impaired mammary gland development noticeable only after mid-gestation
Leads to a strong inhibition of 18S rRNA synthesis (PubMed:25653167). Deletion results in an altered alkali-soluble beta-glucan phenotype (PubMed:12150911). Heterozygous mutants show haploinsufficiency in K1 killer toxin resistance (PubMed:12663529)
Perinatal lethality, due to impaired development of the palate shelves and abnormalities in the cartilage primordia of the thoracic vertebrae (PubMed:26307084, PubMed:26954549). Cleft palates and spinal deformities are caused by the decreased collagen cross-links in the palate and spine (PubMed:26307084). In addition, mice display a reduction in the saccular space in the lungs at 18.5 dpc (PubMed:26307084, PubMed:27645581). Lungs also show reduced lung volumes and weights and deformed and smaller thoracic cavities (PubMed:27645581). Excess elastic fibers are detected, possibly due to an increased expression of Loxl4 (PubMed:27645581). Embryos show defects in the somitic boundaries, due to defects in myofibers that anchor prematurely or overshoot to adjacent somites, and lack tension (PubMed:26954549). Splenocytes show increased number of T-cells into T-helper Th17 cells and constitutive acetylation of Stat3 (PubMed:28065600)
The deletion mutant has similar pigmentation, but a more flat, spread morphology and a shiny surface. It displays a smooth lipopolysaccharide surface as its most peripheral layer. Viability of the mutant is reduced upon exposure to lysozyme treatment and hypo-osmotic stress
Fishes display an accumulation of a large number of dead apoptotic cells in whole early embryo. These cells interfere with embryonic cell migration. In addition, normal development of the somite, brain, heart and notochord are sequentially disrupted up to 24 hours post-fertilization
Loss of secretion of Ipa antigens, and thus unable to enter HeLa cells
Loss of plasmid silencing (PubMed:21255106)
Essential, it cannot be disrupted. Depletion experiments show it is involved in, and may be rate-limiting for decay of Class I mRNAs (they decay rapidly in exponential phase, are difficult to detect in stationary phase). May be required for initiation of decay of Class II mRNAs (more abundant in stationary than exponential phase, show biphasic decay kinetics)
Mice have a low body weight, craniofacial abnormalities, and defects in cortex development. Mice carrying a gene trap insertion in the gene, produces approximately 5% of the normal amount of mRNA. The hypomorphic mutant displays a number of defects that mirror SBBYSS syndrome, although the phenotype is milder. Mice are of normal size at birth but fail to thrive and have brain developmental defects as well as craniofacial defects. Observed abnormalities include short and narrow palpebral fissures, low set ears, and malocclusion. Similar to individuals with SBBYSS, mice carrying the gene trap insertion have long, slender feet and disproportionally long first digits
Mice display embryonic lethality before 10.5 dpc. Embryos show defects in the establishment of the body axis and in the primitive streak and mesoderm formation
RNAi-mediated knockdown causes cell growth arrest followed by death. Putrescine levels are increased and the production of spermidine, glutathionyl-spermidine and trypanothione is severely reduced. In addition, expression levels of AdoMetDC prozyme and ornithine carboxylase (ODC) are increased
15.5-fold spontaneous mutation frequency increase by rifampicin resistance screening
Deficient mice with induced pulmonary inflammation exhibit reduced trafficking of eosinophils from the blood into the lung parenchyma and increased numbers of intraepithelial mast cells in the trachea. Cholinergic stimulation resulted in airway hyperresponsiveness
Pale green seedlings exhibiting a strong reduction in plastid-encoded tRNA levels. Aberrant chloroplast development; normal etioplast in darkness, but abnormal chloroplast in light characterized by small size, poor thylakoid membranes and stacked lamellae
When associated with disruption in CAR1, CAR4 and CAR9 genes, reduced sensitivity to abscisic acid (ABA) during seedling establishment and root growth regulation
Reduction in secondary wall thickening and lignin content
Cells lacking this gene show a consistent change in xanthine level
Plants show a range of abnormalities in organ development and growth, with deficiency in the elongation of the stem and leaves, skotomorphogenesis, root differentiation and reproductive growth. Treatment with exogenous brassinolide (BL) rescues the abnormal phenotype
No visible phenotype under normal growth conditions, but mutant plants exhibit increased tolerance to cold stress
Not essential. No degradation of PbpB (PBP3, FtsI) in the presence of mutant Wag31 upon H(2)O(2) exposure (PubMed:19496931). Altered processing of anti-sigma factors RskA, RslA and RslM (PubMed:20545848)
Decreased resistance to Cu(+) (PubMed:10639134, PubMed:11167016). No change in resistance to Zn(2+) or Cd(2+) (PubMed:10639134). Decreased resistance to AgNO(3) (PubMed:12832075). Increased intracellular levels of Cu(2+) (PubMed:11167016)
Knockout mice were obtained according to the expected Mendelian ratios and showed no obvious phenotypes with respect to viability and development; however males show infertility (PubMed:31358751, PubMed:31437213). PSMA8-null spermatocytes exhibit delayed M-phase entry and are finally arrested at this stage, resulting in male infertility (PubMed:31358751, PubMed:31437213)
Males are infertile, while female fertility is not affected. Testis size is significantly reduced with the phenotype apparent from postnatal day 28 (P28) onwards. Testicular histology appears to be normal before P28, but then cell aggregates begin to accumulate in the center of seminiferous tubules. Sperm development arrests at the post-meiotic round spermatid stage, associated with increased apoptosis. Adult testes completely lack round spermatids and spermatozoa. Meiosis appears to be normal up to the pachytene stage, with no apparent effect on synaptonemal complex formation or meiotic sex chromosome inactivation. However, chromosome alignment on the metaphase plate may be abnormal. In stage P20 testes, 99 gene transcripts show abnormal expression levels, including around 10 lincRNAs
Albino seed and embryo defective when homozygous (PubMed:12324593, PubMed:19563435). Developmental arrest of the embryo from globular to mature stages (PubMed:12324593)
No visible phenotype, due to the redundancy with STL2. Stl1 and stl2 double mutants are impaired in cellulose production and exhibit a stunted growth
Impaired hydrolysis of inosine and adenosine by apoplastic fluid leading to an increased sensitivity to 2-chloroadenosine (PubMed:21235647). The isolated apoplastic sap extracted from the double mutant missing both NSH3 and ENT3 lacks the ability to catalyze the conversion of inosine in hypoxanthine; this double mutant is unable to grow on medium containing inosine as sole nitrogen source, in addition plants are more sensitive to the necrotrophic fungus Botrytis cinerea BMM but are resistant to the cytotoxic adenosine analog 2-chloro-adenosine (CADO) and to 5-fluoro-uridine (PubMed:26779190)
RNAi-mediated knockdown causes hypersensitivity to low, chronic doses of the B.thuringiensis pore-forming toxin Cry5B and heavy metal Cd(2+) exposure
Viable (PubMed:12223401, PubMed:29309414). Results in extra notal macrochaetae often accompanied by a socket cell (PubMed:12223401). In the eye, results in decreased N/Notch protein levels and ommatidia defects (PubMed:29309414). In all imaginal disks at early larval stages, results in supernumerary scutellar bristles and loss or mispositioned microchaetae (PubMed:29309414). In the wings, results in a blistered phenotype (PubMed:29309414). Females have egg chambers with multinucleate cells with ring canal remnants (PubMed:12223401). RNAi-mediated knockdown in glia or perineurial glia reduces ethanol tolerance and locomotor sensitization possibly by limiting ethanol-induced membrane topology changes; does not affect perineurial morphology; does not affect glia-mediated blood-brain barrier permeability (PubMed:29444420). RNAi-mediated knockdown in neurons does not alter ethanol sedation sensitivity or tolerance (PubMed:29444420). RNAi-mediated knockdown in the pacemaker dorsal lateral neurons (LNDs) results in reduced pigment-dispersing factor receptor (Pdfr)-mediated response in the circadian brain neuron evening cells (E-cells) (PubMed:23929551)
Male gametophyte defect characterized by sterile pollen grains developing balloon-like tubes
No visible phenotype during vegetative growth, sporulation or spore germination. No change in antibiotic resistance. Double pbpA-pbpH mutants cannot be made, suggesting the 2 proteins have redundant, essential roles in vegetative growth. Depletion of PbpH in the pbpA deletion leads to cell growth arrest after 3 generations; cells swell, round-up, many lyse and division septa are very irregular. Germinated spore are spherical and eventually lyse
RNAi-mediated knockdown extends mean lifespan by 25% and maximum lifespan by 19%, increases maximum moving speed, and increases levels of the enzyme substrates, L-leucine, L-isoleucine and L-valine
RNAi-mediated knockdown of the protein causes no effects on germination or on plants grown under normal conditions, but decreases the rosette size, enhances the accumulation of anthocyans and desorganizes the photosynthetic membranes when the plants are grown under high light (PubMed:24009357). No effect on photosynthetic performance (PubMed:31053658)
Wrinkled seeds
Abolishes the production of (2R)-annullatin F, (2S,9S)-annullatin D, (2R)-annullatin G and (2S,9S)-annullatin H, and leads to the accumulation of (14S)-annullatin I, 2-hydroxymethyl-3-pentylphenol, (2S)-annullatin B and (2S)-annullatin A
Impaired in non-photochemical quenching (NPQ) under high light conditions
In rod photoreceptor cells, the light-induced ion currents do not decay rapidly, but are greatly prolonged, contrary to what is observed with wild-type mice. The retina photoreceptor layer appears normal when mutant mice are kept in constant darkness, but exposure to light causes apoptosis in retina photoreceptor cells
Mutants show poor germination in the presence of L-alanine and reduced biofilm formation
Delayed growth when using nicotinate as sole carbon and energy source, growth is faster in the presence of 6HNA when compared with that of the wild-type strain
Defects in DRC2 give the ida6 and sup-pf5 phenotypes characterized by reduced swimming speed, disruption of the assembly of several other N-DRC subunits and destabilization of the assembly of several closely associated structures such as the inner dynein arms and the radial spokes
Deficient mice exhibit retinal patches of depigmentation, lack rod and cone ERG responses to light stimuli, and show loss of ciliary intraflagellar transport function in photoreceptors leading to failure of outer segment formation and photoreceptor degeneration
Slight elongation of leaf petioles (PubMed:26160044). Increased length of primary roots in seedlings (PubMed:29861135)
Knockout mice fed either low-fat or high-fat (HFD) diets gain weight at a similar rate as their wild-type littermates and show normal insulin resistance and glucose tolerance. However, they exhibit increased adiposity and increased expression of key adipogenic markers, including PPAR-gamma and its target adipocyte P2 (aP2/FABP4), while maintained on an HFD
Dwarf plants with small rosette leaves (PubMed:25065716). Reduced pollen fertility and seed set (PubMed:23929493, PubMed:27385818). Lower chromatin density and frequent (peri)centromere association in interphase nuclei as well as impaired sister chromatid cohesion (PubMed:23929493). Altered interphase chromatin architecture in differentiated nuclei (PubMed:23929493). Defect chromosome condensation in male meiocytes and in centromeres orientation (PubMed:27385818). During meiosis, extensive interchromosome connections at metaphase I as well as a slight reduction in crossover formation (PubMed:25065716)
Mice are viable, fertile and appear to be in good health (PubMed:16293790, PubMed:22738428). The loss of KCND2 has only minor functional consequences, probably due to an increase of the activity of other potassium channels, even though there is no visible change of their expression levels (PubMed:20371829). Mutant mice show no sign of heart dysfunction, but the fast component of the rapidly inactivating and rapidly recovering potassium current I(to) is lost in their ventricular myocytes (PubMed:16293790). Instead, a slowly inactivating current is expressed that is not observed in wild-type (PubMed:16293790). Electrocardiograms of mutant hearts display no significant differences relative to wild-type regarding their QT, PR, QRS and RR intervals (PubMed:16293790). The neuronal A-type current is reduced by about 80% in brain cortex and hippocampus CA1 pyramidal neurons, by about 50% in suprachiasmatic nucleus neurons and by about 60% in dorsal horn neurons (PubMed:17122039, PubMed:18045912, PubMed:18187474, PubMed:20371829, PubMed:22815518). The dendritic A-type current is abolished in pyramidal neurons from the hippocampus CA1 layer (PubMed:17122039). Concomitantly, the back-propagation of action potential in dendrites is increased (PubMed:17122039). This may lower the treshold for neuronal long-term potentiation (LTP) (PubMed:17122039). Loss of KCND2 does not influence the levels of KCND3 or KCNA4, but leads to reduced KCNIP1, KCNIP2 and KCNIP3 protein levels (PubMed:17122039, PubMed:18187474, PubMed:22612819). Mutant mice show only minor differences in their behavior when compared to wild-type; they display hyperactivity to some, but not all, novel stimuli (PubMed:22738428). Mutant mice show subtle spatial learning deficits (PubMed:20857488). Mutant mice display shorter periods of locomotor activity that wild-type littermates, due to a corresponding change in the circadian rhythm of repetitive firing in suprachiasmatic nucleus neurons (PubMed:22815518). Mutant mice display loss of spontaneous nociceptive behavior that is caused by the activation of GRM5 (PubMed:18045912)
No visible phenotype (PubMed:32040503). Increased weight gain on a high fat diet, as a result of increased fat mass and increased insulin resistance (PubMed:32040503). Increased basal glucose uptake in brown adipocytes, potentially as a result of decreased GLUT1 expression (PubMed:32040503). Significantly reduced lipocytic rate, mitochondrial DNA expression and cytochrome C oxidase activity in brown adipocyte tissues (PubMed:32040503). Loss of light-mediated increase in glucose uptake, mitochondrial respiration, thermogenic capacity and lipid metabolism-related gene expression in brown adipocyte tissues (PubMed:32040503). Impaired maximum thermogenic capacity with reduced heat production and reduced oxygen consumption in response to norepinephrine treatment in brown adipocytes (PubMed:32040503)
Increased abl-1, fat-5, clec-60 and rga-6 mRNA levels (PubMed:21399680). Reduced survival in response to fungus C.neoformans infection (PubMed:21399680). Reduced survival in response to bacterium B.thuringiensis infection (PubMed:21931778). Increased survival in response to bacterium S.typhimurium infection (PubMed:21399680). Susceptibility to S.typhimurium infection is abolished in an abl-1 (ok171) mutant background (PubMed:21399680). Compared to wild-type, mutants grown in presence of bacterium M.nematophilum are more constipated, the tail swelling is increased, growth is slower and they are arrested at the L3 larval stage (PubMed:16809667). Survival rate is similar to wild-type in response to bacteria S.aureus or P.aruginosa infection (PubMed:21399680). In absence of infection, lifespan and brood size is similar to wild-type (PubMed:21399680)
Cells lacking this gene grow poorly on pyrimidine nucleosides and bases as the sole source of nitrogen at room temperature indicating a probably accumulation of a toxic intermediate, the malonic semialdehyde
RNAi-mediated knockdown results in animals that are viable. However, animals display a small, but significant, defect in nuclear migrations in hyp7 hypodermal precursor cells where an average of 3%, and up to 21% in a single animal, of nuclei fail to migrate
Reduced overall plant height, early flowering and reduced fertility
Death shortly after birth (PubMed:15128702). Mice expressing low levels of Fxr1 show postnatal growth retardation with reduced increase in muscle mass and strength (PubMed:15128702). They die within 3 weeks of birth (PubMed:15128702). Conditional deletion in macrophages leads to enhanced Tumor necrosis factor (TNF) production (PubMed:15548538). Conditional deletion in excitatory neurons in the forebrain of early postnatal mice enhances long-term storage of spatial memories, hippocampal late-phase long-term potentiation: defects are caused by de novo GRIA2/GluA2 synthesis (PubMed:25456134). Conditional deletion in adult neural stem cells results in fewer adult-born cells in the dentate gyrus, reducing populations across different stages of neurogenesis, including radial glia-like cells, intermediate progenitors, neuroblasts, immature neurons and neurons (PubMed:28204491). Conditional deletion in germline cells leads to male infertility: defects are caused by impaired translation of a subset of transcripts in adult mouse testes (PubMed:35951695)
Mutants are viable and fertile but 14-21% of embryos fail to hatch, displaying variable segmentation defects affecting anterior-posterior patterning. Mutant ovaries are generally smaller with fewer late-stage oocytes than controls and females lay fewer eggs. Reduced cap-dependent translation
Zygotes survive to mid-larval stages where they exhibit defects in neuroblast and epithelial cell polarity. Mutant neuroblasts lack apical localization of l(2)gl and par-6, and fail to exclude mira from the apical cortex. Oocytes do not differentiate and display failure of BicD and ORB to translocate from the anterior to the posterior crescent, accumulation of Dhc64C in the two posterior-most presumptive pre-oocytes instead of in a single cell as normal, and defective posterior assembly of the microtubule organizing center. Adherens junctions form atypical planar-polarized puncta at gastrulation. Reduced yrt phosphorylation
Mutant embryos fail to gastrulate and die before or at 7.5 dpc
Mice display a high mortality rate, both during embryogenesis and after birth, germ cell failure and sterility. Mutant females exhibit ovarian dysgenesis and lack ovarian follicles at reproductive maturity. Affected males have small testes due to arrest of spermatogenesis during meiotic prophase I. Early chromosome pairing appears normal but synapsis occurs between sister chromatids rather than between homologous chromosomes
Abolishes the production of 5-methyl orsellinic acid and azasperpyranone A (AZA-A)
Inactivation results in increased initial adhesion and biofilm formation
Narrow leaves and reduced root growth that results from a decreased cell division rate and a reduced apical dominance. Delayed germination after imbibition. Enhancement of germination and inhibition of leaf growth at high sucrose concentrations. Hypersensitive to abscisic acid (ABA) in seed germination and seedling growth. At the cellular level, hypotonic vacuole, alterations in the size of grana and starch grains in the chloroplasts, and massive presence of Golgi vesicles in the cytoplasm. Higher resistance to oxidative stress mediated by methyl viologen (MV) that blocks electron transport during photosynthesis and by CsCl in light. Accumulates anthocyanins
RNAi-mediated knockdown results in reduced mitochondrial DNA (mtDNA) copy number
Impairs the production of paxilline (PubMed:23949005). Leads to the accumulation of the 13-desoxypaxillin intermediate (PubMed:12884010)
Double heterozygous PAFAH1B1 and homozygous VLDLR knockout mice present no obvious cortical layering defects (PubMed:17330141). Double heterozygous PAFAH1B1 and homozygous LRP8 knockout mice display a reeler-like phenotype in the forebrain consisting of the inversion of cortical layers and hippocampal disorganization (PubMed:17330141)
Deletion mutants show marked resistance to nitro compound mutagenicity
Perinatal lethality; all of the homozygous mutants die within 30 minutes after birth (PubMed:9160754). Heterozygotes have no visible phenotype (PubMed:9160754). Mutant mice display important skeletal malformations (PubMed:9160754, PubMed:10421573). After 12.5 dpc, they exhibit important defects in embryonic brain development, with a decrease in the number of neural progenitor cells in specific brain regions (PubMed:9160754, PubMed:10421573). The cell density in the marginal zone is normal at 13 dpc, but then becomes much reduced, including a strong reduction in the number of Cajal-Retzius cells (PubMed:10421573). At the same time, Notch1 expression is reduced in the developing brain cortex (PubMed:10421573). At 17.5 dpc, all layers of the ventricular zone in the ventrolateral region at the posterior portion of the lateral ventricles have disappeared, giving rise to symmetric cavitation in the posterior part of the brain (PubMed:9160754). They also display cranial hemorrhages that are first observed at 12.5 dpc (PubMed:9160754, PubMed:10421573, PubMed:12834865). This is due to defects in angiogenesis, with increased blood vessel diameter and abnormal morphology and increased proliferation of capillary endothelial cells that lead to stenosis of the capillary lumen (PubMed:12834865). Psen1-deficient mice can be rescued by neuronal expression of human PSEN1; these mice lack any detectable PSEN1 in their skin and display increased levels of cytosolic and nuclear CTNNB1 in skin, which leads to aberrant Wnt signaling (PubMed:11517342). Mutant mice display epidermal hyperplasia and hyperkeratosis that gives rise to skin tumors (PubMed:11517342)
Fails to respond to starvation by increasing locomotor activity. Decreased basal levels of locomotion. Overgrowth of octopaminergic and glutamatergic (type I and type II) neuromuscular junctions. Increase in the number of terminal type I and type II boutons and in the motile filopodia-like extensions (synaptopods) which form during the expansion of type II terminals in developing larvae
Impaired ability to form spores when associated with a ytrI deletion. In combination with a ybaN deletion, cells show a severe sporulation defect
No visible phenotype under normal growth conditions, but mutant plants have an enhanced response to abscisic acid (ABA)-mediated stomatal closure and increased lateral root formation in response to exogenous auxin
When the sdpA-sdpB-sdpC operon is deleted, increased rate of spore formation; a double operon deletion (sdpA-sdpC plus skfA-skfH) makes spores even faster (PubMed:12817086). In a single gene deletion no SDP is produced (PubMed:20805502, PubMed:23687264)
No phenotype in normal conditions (PubMed:17121854). Displays an increased sensitivity to genotoxic stress and exposure to DNA damaging agents (PubMed:17121854). Knockout mice have decreased muscle strength, however clasping ability is unaffected (PubMed:25757569). Impaired spatial memory retrieval and learning (PubMed:27734846). Reduced branching of hippocampal neurites and increased fragmentation of neuromuscular junctions (PubMed:27734846). APBB1 and APBB2 double knockout mice show progressive retinal lens disruption from 1 month of age, morphologically lenses show massive vacuolization, lens capsule rupture and disruption of the lens fiber cells organization (PubMed:25757569). Decreased muscle strength, however clasping ability is unaffected (PubMed:25757569, PubMed:27734846). Defects in peripheral motor function including balance and coordination, reduced environmental anxiety, reduced hippocampal basal synaptic transmission and synaptic plasticity (PubMed:27734846)
Death by postnatal day 2 associated with proteinuria, edema and massive glomerular vascular leak. Kidneys display enlarged Bowman's spaces, dilated tubuli, effacement of podocyte foot processes and an absence of the glomerular epithelial slit diaphragm. Impaired skeletal muscle development characterized by incomplete myoblast fusion
Cells display defective streaming during development under different conditions and a delay in developmental timing
Cells lacking this gene grow similarly as wild-type under standard conditions, but show reduced growth under low nutrient conditions; this result correlates with a bulk protein translation rate that is lower by a factor of three or four in the deletion mutant strain than that in the wild-type. Deletion of this gene also leads to loss of uL16 (Rpl16) hydroxylation
Reduced responsiveness to benzothiazole (BTH) and upon P. syringae infection with reduced salicylic acid (SA) levels and increased disease susceptibility and attenuated defenses (PubMed:14507999). Increased sensitivity to biotrophic fungi (e.g. Golovinomyces orontii T1 and G. cichoracearum UCSC1), biotrophic oomycetes (e.g. Hyaloperonospora arabidopsidis Noco2) and hemi-biotrophic bacteria (e.g. Pseudomonas syringae pv. tomato DC3000) (PubMed:20520716)
RNAi-mediated knockdown ectopically up-regulates expression of hlh-6 outside pharyngeal gland cells
Mice display renal agenesis and dysgenesis. This is associated with a reduced expression of Gdnf that is similarly found in mice lacking Npnt. Adult mice also display increased susceptibility to glomerular capillary destruction upon mechanical stress. Mice lacking Itga8 also have difficulty balancing associated with structural defects in the inner ear where utricular hair cells lack stereocilia
Chlorina phenotype (PubMed:16891544). Enhanced ethylene sensitivity (PubMed:19417056)
Does not affect the expression of the leporins cluster (PubMed:26051490)
No visible phenotype in normal conditions; mice develop normally and are fertile (PubMed:10805752). Mice lacking both Cx3cr1 and Apoe show decreased atherogenesis (PubMed:12569158). In experimental autoimmune encephalomyelitis (EAE) model mice, recruitment of natural killer (NK) cells in the inflamed central nervous system (CNS) is impaired, leading to increased EAE-related mortality, nonremitting spastic paraplegia and hemorrhagic inflammatory lesions (PubMed:16675847). Mice show an increased microglial inflammatory response and neuronal death in several models of CNS insult (PubMed:16732273). Mice display reduced airway inflammation in lung after allergen sensitization (PubMed:21037587). Mice display a transient decrease in microglia density, leading to synaptic deficits characterized by an excess of weak excitatory synapses: defects are caused by a failure to eliminate immature synaptic connections during the second and third postnatal weeks (PubMed:21778362). Deficient synaptic pruning is associated with weak synaptic transmission, decreased functional brain connectivity, deficits in social interaction and increased repetitive-behavior phenotypes (PubMed:24487234). Defects of lamina propria dendritic cells are observed, leading to impair the sampling of bacteria from the intestinal lumen and affect their ability to take up invasive pathogens (PubMed:15653504). Mice are more susceptible to severe colitis that is rescued by antifungal treatment and display changes in gut fungal communities (PubMed:29326275)
Mutant male mice display increased aggressivity towards intruders. Treatment with a Htr1b agonist does not trigger increased locomotor behavior in mutant mice, contrary to what is observed with wild-type mice. Treatment with a Htr1b agonist does not inhibit 5-hydroxytryptamine release in the frontal cortex and hippocampus of mutant mice, contrary to what is observed with wild-type mice. Likewise, Htr1b agonists do not inhibit dopamine and acetylcholine release in brains from mutant mice
Mice show a lack of chemokine production induced by bacterial peptidoglycans. RIPK2 deficiency affects cellular signaling and cytokine responses triggered by NOD1 and NOD2 ligands, but not TLR ligands
Smc5 depletion in zebrafish embryos using CRISPR/Cas9-mediated genome editing or morpholino gene knockdown results in a significant reduction in head size and aberrant craniofacial patterning in the pharyngeal skeleton
Mutant exhibits increased sensitivity to H(2)O(2) stress
Deletion mutant shows a severe growth defect. Transcription of many genes, including hrdB (sigA), are down-regulated in the mutant strain
Cells lacking this gene are not able to grow anaerobically by denitrification. Inactivated transcription of the denitrifying genes (nitrate reductase narA and nitrite reductase nirK). No effect on growth under aerobic conditions. No effect on dimethyl sulfoxide (DMSO) respiration
Mutants display a reduced rosette width, a later flowering time and an altered leaf K(+) and Na(+) contents (PubMed:16513816). No defect in male fertility, due to redundancy with CHX23. Chx21 and chx23 double mutants are male sterile (PubMed:21239645)
No alteration in sensitivity to UV light, slow growth on mitomycin C. No effect on homologous recombination; double hef/hjc deletion mutants cannot be constructed (synthetic lethality), suggesting the enzymes play overlapping roles
Impairs the production of N-pyruvoylanthranilamide ans downstream compounds and accumulates 2-(2-aminopropanamido)benzoic acid and 2-(2-((4-amino-1-carboxy-4-oxobutyl)amino)propanamido)benzoic acid (PubMed:29196288)
No visible phenotype, when grown in absence of ethylene. Extreme ethylene responsivness, when treated with saturating ethylene concentrations (PubMed:18429939). Curly leaf (PubMed:19843313)
Cell-wall protein anchorage defects
RNAi-mediated knockdown causes larval lethality (PubMed:16785323). Results in increased protein aggregation in the oocytes of sperm-deficient young adult females which is not eliminated by mating (PubMed:29168500). Impaired yolk uptake by the oocytes from the pseudoceolomic cavities (PubMed:16785323). Causes an increase in the section of the excretory canal, which often has multiple lumens and abnormal whorls (PubMed:16785323). Does not affect alae formation in larvae (PubMed:16785323)
Normal asexual development in host erythrocytes (PubMed:29074775). Egress from erythrocytes is normal; however, subsequent erythrocyte invasion by newly released merozoites is severely impaired (PubMed:29074775). Accumulation of RAP1 p86 precursor resulting from impaired processing (PubMed:29074775). Impaired ASP processing (PubMed:29074775). Impaired secretion of CyRPA during merozoite egress from erythrocytes (PubMed:29074775)
Plants have no obvious physical phenotype. However, there is no dimeric photosystem II (PSII) and there is only a 50% rate of normal oxygen evolution. There is an approximately 40% decrease in the amount of PSII and the oxygen evolving complex in these plants. The monomeric PSII that remains functions normally with respect to electron transfer
Reduced root hair length and content of arabinosylated extensins in root cell walls
Cells lacking this gene are unable to produce validamycin A, and show an accumulation of validoxylamine
Cells missing this gene prolong the activity of sigma-F factor and do not fully induce the activity of sigma-G factor; sporulation efficiency is reduced 50-fold with most spores arresting in the engulfment stage (III) (PubMed:21037003). About 10-fold increased sensitivity to DNA damaging agents, 60% reduced chromosomal DNA transformation; plasmid transformation is unaffected. Partially suppresses DNA damaging agent sensitivity of recU deletions (PubMed:11810266). Partially suppresses DNA damaging agent sensitivity of recU deletions (PubMed:11810266). Partially suppresses DNA repair and chromosome segregation defects in ruvA and recG mutants cells, but not in recD or recU mutant cells (PubMed:15317759)
Mice develop to blastocyst stage, probably as a result of maternally-derived Nasp, and then die
Deletion mutant can still produce tetracenomycin C, but at a reduced level
Cells lacking this gene are unable to grow in medium containing asparagine as a sole carbon source but presents the same growth rate as the wild-type in glucose-containing medium
Reduced levels of lignin in leaves and stems (PubMed:17991462). Reduced seed germination rate (PubMed:22226340)
Decreases cell adherence to silicone substrate. Decreases slightly filamentation
Conditional knockout mice lacking Slc2a9 in enterocytes are born at the expected Mendelian rate; they show no obvious phenotype and are fertile (PubMed:25100214). Mice however develop impaired enterocyte uric acid transport kinetics, hyperuricaemia, hyperuricosuria, spontaneous hypertension, dyslipidaemia and elevated body fat (PubMed:25100214)
Lethality associated with pronounced developmental defects in the lung, kidney and brain. Lethality is either embryonic consecutive to abnormal brain development or perinatal associated with pronounced developmental defects in the lung and kidney. These developmental defects were associated with widespread aberrant apoptosis and proliferation. Lethality can be partially rescued in an ICR genetic background: mice are slightly smaller in size than their wild-type counterparts and show impaired genotoxic stress responses
Cells lacking this gene show a more rapid utilization of L-ascorbate and are able to grow on L-ascorbate under microaerophilic conditions
RNAi-mediated knockdown in hippocampal cells leads to neuronal cell death
Disruption of the gene results in a strain with growth defects that are complemented by addition of pantoate
Seedling lethal. Accumulation of mRNAs with premature termination codons (PTC). Photoperiod-dependent altered development and stress responses; in long days (16 hours light), altered organ morphologies (e.g. epinastic leaves, small rosette size, long seeds, some abnormal flowers and stunted stem growth), disturbed homeostasis of wounding-induced jasmonic acid and pathogen-elicited salicylic acid. Increased resistance to Pseudomonas syringae pv. tomato strain DC3000
Cells lacking this gene cannot grow on putrescine as the sole source of carbon or nitrogen
Mice exhibit dwarfism, increased anxiety, impaired pain responses and do not reproduce as well as wild-type mice. More MHC class I molecules are displayed on dendritic cell surfaces
Deletion mutants are incapable of growing on arsenate, but are still able to grow on a wide variety of other electron acceptors as efficiently as the wild-type
Cells lacking this gene show increased aggregation, increased cellulose production but no increase in surface attachment
Abolishes the production of ergosterol and leads to the accumulation of sterol intermediates (PubMed:22947191). Leads to reduced deoxynivalenol (DON) production (PubMed:22947191). Results in reduced mycelial growth as well as less conidia (PubMed:22947191). Leads to decreased virulence (PubMed:22947191). Exhibits a significantly increased sensitivity to the divalent cations Cu(2+), Mg(2+) and Ca(2+), as well as to the trivalent cations Fe(3+) and Al(3+) (PubMed:22947191). Shows increased resistance to cell wall-degrading enzymes and significantly increases sensitivity to osmotic stress mediated by NaCl and D-sorbitol, and to oxidative stress generated by H(2)O(2) and paraquat (PubMed:22947191). Decreases tolerance to sterol biosynthesis inhibitors, including triadimefon and tebuconazole (targeting sterol 14-alpha-demethylase), the amine fungicides tridemorph, fenpropidin and spiroxamine (targeting sterol C-14 reductase or sterol delta-7,8-isomerase) and the polyene fungicides nystatin and amphotericin B (binding to ergosterol) (PubMed:22947191). Does not affect the sensitivity to the dicarboximide fungicide iprodione (PubMed:22947191). Finally, ERG4 deletion leads to increased expression of the ergosterol biosynthesis genes CYP51A, CYP51B, CYP51C, ERG2, ERG6A, ERG6B, ERG7, ERG24A and ERG24B (PubMed:22947191)
Deletion mutant does not secrete EsxN and shows a minor reduction of PPE41 secretion
Defects in body wall muscle, endoderm development and pop-1 asymmetry (PubMed:10380924, PubMed:10391246, PubMed:9384382). RNAi-mediated knockdown disrupts tail tip morphogenesis resulting in retention of the pointed larval tail tip in adult males (also known as the Lep phenotype) (PubMed:21408209). RNAi-mediated knockdown causes the transcription factor plp-1 to localize at much lower levels in nuclei and instead accumulate in the cytoplasm, during embryonic development
Improved drought tolerance accompanied by lower rates of water loss. Impaired sensitivity to gibberellin (GA) and brassinosteroid (BR) in seed germination. Hypersensitivity to ABA and glucose (Glc) during and after seed germination. Altered response to blue light (BL)
No visible phenotype under normal growth conditions, but mutant plants show increased disease symptoms and cell death after inoculation with an avirulent strain of Pseudomonas syringae pv. tomato DC3000
Die in utero before midgestation. Show elevated sister chromatid exchange (SCE)
Cells lacking this gene show a white phenotype, and produce 2-methyl-3-n-amyl-pyrrole (MAP) and 4-hydroxy-2,2'-bipyrrole-5-methanol (HBM)
Does not sporulate as evidenced by the white phenotype of the aerial mycelium compared to the wild-type gray (PubMed:19567872, PubMed:16262781, PubMed:12900022). Produces long non-coiling aerial hyphae typical of developmental mutants arrested in a very early stage of aerial growth (PubMed:19567872). No effect on vegetative growth or production of the pigmented antibiotics undecylprodigiosin and actinorhodin. Aerial hyphae occasionally undergo typical coiling indicating that mutation affects also later stages of the development. Aerial mycelium does not septate into spore compartments (PubMed:14513208). Increased levels of actinorhodin production. Colonies are significantly larger than wild-type and they continue to expand prior to the onset of sporulation whereas in wild-type the growth slows considerably. No DNA segregation. Aerial hyphae show irregularly shaped globular compartments often having tiny side branches, but the compartments are not separated by septa. Significant number of collapsed hyphae. Fails to grow at concentrations of 750 mM NaCl or higher (PubMed:12900022). Does not form Z ladders which are typical of sporulation-specific cell division, but still forms individual septa such as cross-walls in vegetative hyphae (PubMed:21205868). Produces some deformed spore-like bodies when ftsZ is constitutively expressed, but no intact spores are produced and only 41% of them are viable. They are very sensitive to exposure to both heat and lysozyme. The DNA in them has a spiky appearance and is surrounded by an unknown white electron-lucent mass, while the cell wall is as thin as that of aerial hyphae (PubMed:22113698). Transcription of ssgG is constitutive, ssgC transcription is enhanced and transcription of ssgE and ssgF are moderately up-regulated (PubMed:26002075)
Twofold increase in fat content (PubMed:12529643). Extension in life span (PubMed:12529643). Defective in chemotaxis (PubMed:12529643). Reduces AWA cilia complexity and branching from the AWA periciliary membrane compartments (PCMC) (PubMed:31259686). AWB cilia are severely truncated due to elongation failure during postembryonic stages and AWC membraneous ciliary fans are significantly decreased (PubMed:31259686). Increase in localization of PtdIns(4,5)P2 and PPK-1 to the cilia base in AWB neurons (PubMed:31259686). Reduces lengths of ASH and ASI neuronal cilia (PubMed:31259686). Mislocalization of GPCR proteins to the (PCMC) in AWB sensory neurons, such as srbc-64, tax-4 and arl-13 (PubMed:31259686). Mislocalization of tax-2 to the distal dendritic ends of ASK neurons (PubMed:31259686). Decreases dpy-23 localization to the PCMC in AWB sensory neurons (PubMed:31259686)
Inviable (PubMed:18625724). Decreases cytosolic iron-sulfur (Fe-S) protein assembly (PubMed:31040179)
Plants overaccumulate free protochlorophyllide in the darkness and exhibit photooxidative damage (bleaching) in subsequent light, probably caused by the photosensitizing activity of this tetrapyrrole intermediate
No visible phenotype. Mice are born at the expected Mendelian rate. No defect in the metabolism of epoxygenated fatty acid epoxide
Morpholino knockdown of the protein results in severe contractile dysfunction of the heart, leading to pericaridal edema and blood congestion. Heart development and gross cardiac morphology appear to be normal. Cardiomyocytes show some ultrastructural abnormalities including narrowing of the M-band and a poorly defined A-band/M-band transition
Deletion mutant displays significantly lower virulence than the wild-type strain (PubMed:10564474). Also exhibits a constitutive polymyxin B resistance (PubMed:11021929)
Mice are normal but males are sterile. Male sterility is due to defects in sperm motility unability to fertilize intact eggs. In mice lacking Catsper1, the sperm lacks CatSper2, while in mice lacking CatSper1, the sperm lacks CatSper1, suggesting that stable expression of CatSper1 requires CatSper2 and vice versa
Accumulation in the Golgi, thereby preventing secretion
No visible phenotype under normal growth conditions, but mutant plants show increased sensitivity to salt and drought stresses
Single dnaJ and double dnaK-dnaJ disruption are non-essential; synthetic lethality is seen in a triple tig-dnaK-dnaJ disruption, although this depends on temperature (triple disruptions grow slowly at 20 and 34 degrees Celsius but not at 43 degrees) and strain background
Strong lethality at the post-seedling stage
Impairs the production of bikaverin (PubMed:19400779). Leads to the accumulation of the intermediate pre-bikaverin (PubMed:26382642)
Mice show sensory ataxia at an early stage, followed by motor ataxia at a later stage. They have reduced levels of monoubiquitin in the nervous system, and increased resistance to retinal ischemia
Abolishes the production of ergosterol when erg31 is also deleted (PubMed:18310029). The double disruptant also leads to susceptibility to cycloheximide and to staurosporine, but does not affect tolerance to nystatin and to amphotericin B (PubMed:18310029)
Mutants infected with influenza virus do not show a significant difference on germinal center B cells compared to wild-types (PubMed:23045607). Double knockouts for IL21 and IL6 infected with influenza virus show a significant reduction in germinal centers in both the draining lymphatic nodes and the spleens compared to wild-types. Animals show a significant reduction in virus-specific IgM and IgG (PubMed:23045607)
No visible phenotype (PubMed:31829135). Slight hydration defects of wild-type pollen placed on the stigma of plants lacking both BKN1 and BKN2, but normal pollen grain adhesion and pollen tube growth (PubMed:31829135)
Blocks the secretion of fusaric acid and results in decreased resistance to fusaric acid (PubMed:25627440)
Mutant fails to respond to succinate but responds to toluene
Defects in root growth
No visible phenotype when grown under normal conditions. Reduced photosynthetic electron transport efficiency, chloroplast ferric chelate reductase activity and iron content. Seedling lethal when grown in alkaline soil
Single mutants do not display any obvious defects in ciliogenesis. Double bbs-5 and bbs-4 mutants display a defect in cilia structure and function. This is characterized by increased accumulation and mislocalization of intraflagellar transport proteins and impaired movement of intraflagellar transport proteins along the ciliary axoneme. Double mutants also have defective polycystin-mediated cilia signaling and mislocalized and increased accumulation of mechanosensory receptors pkd-2, osm-9 and odr-10 within cilia
Cells lacking this gene require menaquinone-4 (MK 4) for their growth, and accumulate a small amount of DHFL
No visible phenotype (PubMed:24794527). Disrupted K(+)/H(+) efflux antiporter in the kea1 kea2 double mutant (PubMed:33111995). Double mutants kea1 kea2 display strong growth retardation along with pale green leaves associated with a delayed formation of chloroplast pigments and electron transport complexes, as well as maturation defects of the plastid ribosomal RNAs and hampered RNA-protein interactions (PubMed:24794527, PubMed:27443603, PubMed:34235544). The double mutant kea1 kea2 exhibits a drastic photosystem II (PSII) quantum yield recovery under moderate salt stress (PubMed:34235544). Impaired rapid hyperosmotic-induced Ca(2+) responses in kea1 kea2 (PubMed:27528686). K(+)-induced alkalinization of plastid stroma is suppressed in kea1 kea2 mutants, as well as delayed rate of decay to neutral pH in the dark, but normal light-stimulated alkalinization of the stroma (PubMed:33111995). In addition, reduced primary root length is observed in the kea1 kea2 double mutant in the absence of sucrose, associated with lower abscisic acid (ABA) accumulation and impaired photosynthesis; these phenotypes are partially restored in the presence of moderate NaCl treatment (75 mM) (PubMed:35193734, PubMed:33485149). Plants kea1 kea2 have slightly higher K(+) levels and altered reactive oxygen and nitrogen species (ROS and RNS) metabolism, but enhanced resilience to drought stress due to an increased photorespiratory pathway and stomata closure (PubMed:33485149). Triple mutants kea1 kea2 kea3 are extremely stunted in size with entirely pale leaves and died before steeing seeds (PubMed:24794527)
The lytB2 gene cannot be deleted, unless an additional copy is provided elsewhere, demonstrating that this is the essential homolog. lytB1 cannot complement for loss of function of lytB2, but the sole LytB homolog of M.smegmatis is able to compensate for loss of LytB2 in M.tuberculosis
Mouse ES cells lacking Sms display normal growth rates but are sensitive to antiproliferative and DNA damage-inducing drugs
Essential in multiple developmental steps, its disruption causes developmentally impaired worms
RNAi-mediated knockdown disrupts prometaphase chromosome organization and chromosome segregation in mitosis and meiosis II and leads to aneuploidy throughout development (PubMed:11914278, PubMed:23684975). Disrupts mix-1 localization to mitotic chromosomes (PubMed:11914278). Increased levels of phosphorylated air-2 at the spindle midzone, indicating activation of the abscission checkpoint (PubMed:23684975). Results in cleavage furrow regression and failed cytokinesis during the first and second embryonic divisions (PubMed:23684975)
Full embryonic lethality. No embryos survive past 10.d dpc. At 9.5 dpc the embryos display a phenotype similar to that of Notch1-deficient mice, with defects in the development of the caudal part of the embryo and in somite segementation, defective vascular morphogenesis in the yolk sac, and patterning defects in the developing heart and neural tube. Assembly of the gamma-secretase complex and APP processing are disrupted
Pale green siliques (PubMed:12220263). Pale-green seedlings in double mutants glk1/glk2 (PubMed:23459204)
Abnormal cortical microtubule organization leading to anisotropic cell expansion
Delayed greening and retarded growth
Deletion of both napG and napH genes has little effect on the overall rate of nitrate reduction during growth in the glycerol/nitrate medium. However, during growth in the glucose/nitrate medium, the double mutant shows a decreased rate of electron transfer that correlates with decreased NapAB activity
Abnormal enlargement of the shoot apical meristem associated with a disrupted cellular and subcellular organization. Release of transcriptional gene silencing of heterochromatic genes, and ectopic gene expression and organogenesis. Under-expression of FLC and early flowering in short days
RNAi-mediated knockdown results in increased apoptosis and increased sensitivity to DNA damage-induced apoptosis in response to ionizing radiation in the germline
In the germline, simultaneous RNAi-mediated knockdown of grp and Rtel1 results in partial rescue of loss of germline stem cell observed in the single Rtel1 knockdown
No visible phenotype under normal growth conditions, but loss of TMTT production after alamethicin elicitation (PubMed:21088219). Enhanced susceptibility to the fungus Alternaria brassicae (PubMed:29271603). Increased oviposition rate of the phloem-feeding insect cabbage whitefly (Aleyrodes proletella) (PubMed:26699853)
Null mice exhibits aberrant expression of brain area-specific genes and structural organization in the somatosensory and caudal motor cortices. In somatosensory cortex, vibrissal barrels display postsynaptic disorganization. In caudal motor cortex, anomalous differentiation of corticospinal motor neurons is observed, accompanied by failure of corticospinal tract formation. Mice also develop self-inflicted skin lesions and show significantly enhanced scratching responses to pruritic agents, due to the selective loss of a subset of spinal cord inhibitory interneurons
Cells lacking this gene are unable to produce enterobactin and are hypersensitive to the antimicrobial peptide wrwycr
Mice have severely impaired T-cell independent antipolysaccharide antibody responses (PubMed:20038800). B-cell development is predominantly normal in CD20-deficient mice but calcium influx following CD19 or IgM ligation is reduced (PubMed:8450218)
Deletion mutant does not synthesize SMK and shows a hypervirulent phenotype in the mouse model of infection (PubMed:27933784). Loss of the gene does not affect levels of menaquinone-9 (MK-9), an essential component in the electron-transport chain in M.tuberculosis (PubMed:27933784)
Susceptiblility to the late blight oomycete pathogen P.infestans
Viable and fertile (PubMed:24553286). Results in spindle defects (PubMed:24553286). Results in severe sensitivity of third-instar larvae to ultraviolet radiation (UV) (PubMed:22532806, PubMed:24553286). Exhibits a significant reduction in survival after hydroxyurea (HU)-induced DNA damage (PubMed:24553286). Decreases homologous recombination (HR) (PubMed:22532806). Simultaneous knockout of PolH/DNApol-eta and PolZ1/DNApol-zeta does not show any difference in the frequency of full HR repair compared to the single knockouts suggesting they have overlapping roles (PubMed:22532806)
Defective photoreceptor synaptic transmission, significantly reduced phototaxis and decreased levels of histamine in photoreceptor terminals
Early flowering and bolting at room temperature (22 degrees Celsius), lost sensitivity to heat and accumulation of FT, associated with reduced levels of TAS1-siRNAs (PubMed:30778176). Attenuated immunity leading to an increased susceptibility to the pathogenic bacteria Pst DC3000 (avrRpt2), with slightly reduced induction of ICS1 and salicylic acid (SA) levels upon pathogen infection (PubMed:30778176)
Morpholino knockdown results in a specific loss of cilia, with no effect on the number of cells with multiple basal bodies or the number of basal bodies per cell
Plants show reduced acetylation of histone H3 in light-responsive promoters, decreased chlorophyll accumulation and altered expression of about 9% of genes in young leaves
Mutants exhibit mild dumpy phenotype and moderate defects in movement in adults
Viable and fertile. Early retinal development appears to be grossly normal. Outer segments of rod and cone photoreceptors show progressive degeneration from 2 months of age, with rod cells more severely affected in the early stages
Completely abolishes the production of novofumigatonin, but accumulates asnovolin G and asnovolin A
Flies exhibit defects in bristle and wing development
No visible phenotype in normal conditions; mice are viable and indistinguishable from wild-type mice (PubMed:14749364, PubMed:24557836). Mice are resistant to TNF-induced hypothermia (PubMed:24557836). Mice are more susceptible to influenza A virus (IAV) infection than wild-type mice: at a modestly lethal dose of IAV, mice display significantly increased rates of mortality, probably caused by a failure to eliminate infected cells and limit virus spread in pulmonary tissue (PubMed:27321907, PubMed:32200799). Perinatal lethality observed in Ripk1 knockout mice is rescued in knockout mice lacking both Ripk1 and Ripk3; mice however die the first days of postnatal life (PubMed:24813849, PubMed:24813850, PubMed:27819681, PubMed:27819682). Only mice lacking Ripk1, Ripk3 and Casp8 survive past weaning and rescue lethality caused by the absence of Ripk1 (PubMed:24813849, PubMed:24813850)
RNAi-mediated knockdown in a sma-9 (cc604) mutant background restores the production of the 2 M lineage-derived coelomocytes
About half of the mutant mice die between 20 and 40 days after birth. Survivors are smaller, weigh 10 to 15 % less than their littermates, but show normal lifespan. Both mice that die early and long-time survivors display an accumulation of autophagic vacuoles in liver, pancreas, cardiac and skeletal muscle. Mutant mice display an increased ratio of heart weight to body weight and severely impaired contractile function of the heart muscle. Hepatocytes from mutant mice show a decreased rate of degradation of long-lived proteins
Impairs expression of SAP2 and OPT1. Impairs virulence in Drosophila as a host model
RNAi-mediated knockdown in testis tissue results in misorientation of spermatids, indicating loss of polarity. Transport of germ cells across the seminiferous epithelium is disrupted leading to partial spermatid entrapment in the epithelium. Premature spermatid release is also detected in stage VII tubules. F-actin is mislocalized and found on the convex side of the spermatid head, in contrast to wild type where it is tightly restricted to the concave side. PALLD localization is also abnormal, showing more diffuse expression away from the spermatid head
Death at embryonic stages due to heart growth defects
Mice show abnormal appearance and die within 4 hours after birth. The epidermal cells are highly proliferative with dysregulated epidermal differentiation
Inactivation of this gene abolishes growth on SI as the sole carbon source, but does not affect growth on MI or glucose
Embryonic lethality between 11 dpc and 13 dpc. Embryos show multiple defects including neural tube defects, abnormal dorsal-ventral patterning of the spinal cord, a defect in left-right axis determination and severe polydactyly (extra digits)
Homozygous knockout mice are viable and do not display overt phenotype with regard to fertility, body weight and anatomy (PubMed:26474409). They exhibit a decrease in ceramidase activity in brain, liver and lung tissues leading to the age-dependent accumulation of unsaturated long-chain C18:1-ceramides and the concomitant decrease in sphingosine and sphingosine-1-phosphate (PubMed:26474409). This is associated with a premature degeneration of Purkinje cells and age-dependent defects in motor coordination, skilled hindlimb function and balance capabilities (PubMed:26474409). Knockout mice also display exacerbated systemic inflammatory response (PubMed:26938296)
Mutant deletion mice demonstrate an increased bacterial burden in the mesenteric lymph nodes and spleen compared with WT mice (PubMed:34623328). They have also a more severe phenotype in the dextran sodium sulfate-induced colitis model, which is due to a defect in autophagy in colon epithelial cells (PubMed:33280498)
RNAi-mediated knockdown in larvae confers resistance to tunicamycin (PubMed:30081392). RNAi-mediated knockdown reduces ER stress response caused by the accumulation of unfolded protein in the ER by reducing Ire1 and PEK/PERK signaling (PubMed:30081392). RNAi-mediated knockdown in imaginal disks results in lethality (PubMed:17666430). RNAi-mediated knockdown in cyst cells results in abnormal sperm cell development with abnormal organization of individualization cones (PubMed:17666430)
In the mosquito vector, midgut infection and oocyst development are normal; however, sporozoites fail to egress from oocysts and their gliding motility is impaired resulting in a failure to invade the salivary glands (PubMed:28192122). Processing of circumsporozoite protein CSP on the oocyst inner surface is normal (PubMed:28192122). In the mouse host, sporozoite invasion of the liver is impaired but the growth and development of asexual blood stages are normal (PubMed:28192122)
Leads to an alteration in the product spectrum, with an accumulation of 6-O-demethyl-10-deoxyfusarubin and 6-O-demethylfusarubinaldehyde (PubMed:22492438)
Mutation causes nitrate respiration deficiency
Defects in immunity and hematopoiesis. Adult homozygous mice are obtained at reduced frequency because of postnatal lethality. Surviving animals display a variety of abnormalities, including male infertility, retarded growth and defects in multiple hematopoietic lineages. They also show increased susceptibility to spontaneous eye infections associated with a cell-autonomous impairment of neutrophil function. They exhibit a mild impairment of erythropoiesis and hematopoietic stem cells (HSCs) have impaired competitive repopulating capacity both under normal conditions and when subjected to self-renewal stimulation by NUP98-HOXA10. Homozygous HSCs show a dramatic sensitivity to DNA demethylation-induced differentiation (5-azadeoxycytidine)
Early autophagic structures and lgg-1 puncta form an irregular shape and clump together (PubMed:20550938). RNAi-mediated knockdown results in increased lgg-2-positive autophagosomes following fertilization and at later embryonic stages (PubMed:24374177)
Completely abolishes the production of pestalotiollide B
Altered processing of 3' end of CRISPR crRNA and tracrRNA, but no effect on CRISPR interference during plasmid transformation
Mice are highly sensitive to LPS-induced endotoxin shock and susceptible to intestinal inflammation caused by exposure to microflora. They display no overt T-cell selection phenotype but an impaired proliferation of T-cells. Thymocytes and T-cells seem to produce less IL-2 and IFNG
Reduces, but does not abolish, the production of terrein (PubMed:24816227)
Decreased contents of campesterol and sitosterol (by 50% and 30%, respectively, compared with wild type). Decreased emissions of beta-caryophyllene (by 35% compared with wild-type)
Growth in nicotinate or 6HNA is similar to that of the wild-type strain. Mutant strain shows constitutive levels of nicotinate hydroxylase activity, and these levels are similar to the induced levels detected in the wild-type strain grown in nicotinate. On the contrary, the NicX activity shows the same induction profile than that observed in the parental strain
Mutant shows constitutively high galacturonate uptake activity under inducing and non-inducing conditions
Deficient mice grow and reproduce normally, show no gross phenotype and no obvious neurological defect. Deficient mice, however, display increased plasma, muscle and kidney aromatic amino acids (AAA) concentration under both normal and high protein diet, although this concentration remains normal in the liver, but it does not alter thyroid hormones homeostasis
Deletion mutant is susceptible to killing by V52 strain in a VgrG3-dependent manner
Morpholino knockdown increases the recruitment of macrophages in response to injury
Delayed root growth in seedlings
No visible phenotype and no effect on drought stress response, probably due to the redundancy with RMA2 and RMA3
Narrow and rolled leaf phenotype (PubMed:17619151, PubMed:28829777). Reduced root growth (PubMed:17619151). Tolerance to salt stress (PubMed:28829777). Reduced response to inhibition of root elongation by ethylene (PubMed:28829777)
Deletion of pgaA does not prevent PGA synthesis but does block its export. The synthesized PGA is retained in the periplasm and accumulates at the cell poles. Disruption of the pga operon causes severe and persistent defects in the biofilm formation process
Reduced cerebellar and forebrain volume. The phenotype of these animals resemble that seen in those after bmi1 knockdown, supporting a link between chmp1a and bmi1. In chmp1a knockdown models, the internal granule and molecular layers were more severely affected than the Purkinje cells, which are consistent with the relatively preserved folia observed in humans with CHMP1A mutations
Reduced levels of catharanthine, vindoline and ajmalicine, but accumulation of their precursor 19E-geissoschizine and its derivatives pericyclivine and perivine
Sensitive to high hydrostatic pressure (mechanical stress); simultaneous disruption of RRD1 exacerbates the effect
Decreased protein levels of DRM complex components including lin-9 and lin-52 (PubMed:17075059). Double knockout with the programmed cell death regulator mcd-1 results in 100% lethality during the L1 stage of larval development (PubMed:17237514). RNAi-mediated knockdown in a ced-1 mutant background results in reduced somatic cell apoptosis (PubMed:27650246)
Mutant shows a strong decrease in chloramphenicol resistance. Mutation does not affect susceptibility to quinolones, tetracyclines, aminoglycosides and imipenem
Results in increased conidiation associated with stunted aerial hyphae (PubMed:17631397)
Male mice are infertile despite regular copulation. Display shortened sperm tails and malformed sperm heads and motionless spermatozoa (PubMed:26501274). The 9+2 structure of the axoneme seems to be intact (PubMed:26501274). Spermatozoa are able to activate oocytes when used in intracytoplasmic sperm injection (ICSI) and these embryos are able to develop to term (PubMed:26501274)
Short hypocotyl in dark with drastic reduction in apical hook curvature. Enhanced inhibition in hypocotyl elongation in white light (WL), especially at lower fluence rates (PubMed:18375596, PubMed:26474641). Delayed flowering under long-day conditions (PubMed:18375596). Reduced lateral roots formation (PubMed:18375596, PubMed:26474641). Reduced chlorophyll accumulation and expression of light-regulated genes. Increase in the anthocyanin level in the dark (PubMed:18375596). Reduced sensitivity to abscisic acid (ABA) leading to impaired ABA-mediated reduction of seed germination (PubMed:19704523, PubMed:26474641). The double mutant shw1 phyB exhibits a strongly reduced hypocotyl length in WL (PubMed:19704523). The double mutant shw1 cop1 displays an enhanced photomorphogenic growth in the darkness as well as abnormal accumulation of HY5 (PubMed:26474641, PubMed:18375596). The double mutant shw1 hy5 has altered root growth, hypocotyl length and hook angle similar to the single mutant shw1 in the darkness and far red light (FR), but shorter hypocotyl in WL, red light (RL) and blue light (BL). In addition, shw1 hy5 is recued for gravitropic root growth defect observed in hy5 single mutant (PubMed:26474641)
Null cells divide much more slowly than wild type, have a high percentage of mutant cells, become multinucleate and have very enlarged nuclei
Mice were born at a much lower frequency than expected and are smaller than wild-type mice throughout development and life (PubMed:25580854). Despite their smaller size, mice appear normal (PubMed:25580854). Metabolomic characterization of brain tissue show decreased lysophosphatidylserines (PubMed:25580854)
Leads to a significant growth defect in the temperature-sensitive SAR1-D32G mutant background
Cells lacking this gene are viable, have normal growth and morphological appearance under standard cultivation conditions, but have high sensitivity to toxic non-canonical pyrimidine derivatives such as 5-fluoro-2'-deoxyuridine (5-FdU); the growth is completely blocked by 2 uM 5-FdU. Upon exposure to mutagenic agent 5-bromo-2'-deoxyuridine (5-BrdU), 5-BrdU is extensively incorporated into the DNA and results in accumulation of random mutations with high frequency, which affect growth or generation of lethal mutations in essential genes. A 30-fold increase in the mutation rate is observed. In the presence of 5-BrdU, the cells exhibit frequent morphological abnormalities, including irregular cell shape, heterogeneous cell size and the occurrence of cells undergoing lysis
Deletion of the gene leads to a 150-fold increase of the basal level of nadV expression
Cells lacking this gene show no maltose uptake
Reduced plant growth and grain yield (PubMed:26864209, PubMed:29901843). Reduced content of chlorophyll in leaves (PubMed:26864209, PubMed:29901843). Reduced number and size of chloroplasts (PubMed:29901843). Altered structure of chloroplasts (PubMed:29901843). Reduced root length and lateral root number (PubMed:29901843). Formation of hypersensitive response (HR)-like lesions (PubMed:26864209). Early heading and premature leaf senescence (PubMed:29901843). Accumulation of the antimicrobial compounds momilactones and phytocassanes, and constitutive expression of pathogenesis-related genes (PubMed:26864209). Over-accumulation of jasmonates and elevated levels of brassinosteroid (PubMed:26864209). Increased leaf lamina bending (PubMed:26864209)
No visible phenotype under normal growth condition, but strong inhibition of root elongation when grown in the presence of Al
RNAi-mediated knockdown causes a reduction in lifespan but not in a glp-4 bn2 mutant background. In an ife-2 ok306 mutant background, partially reduces the lifespan increase (PubMed:17277769). In a rfl-1 or198 mutant background, partially rescues embryonic viability by restoring normal cytokinesis (PubMed:19528325)
impairs the production of fusaristatin A
No visible phenotype under normal growth conditions, but mutant plants show increased sensitivity to abscisic acid (ABA) treatment or salt stress
Mutants exhibit normal growth and development, and endocytosis and the structure of membrane-bound organelles is unaffected
Reduces cercosporin toxin accumulation and fungal virulence
Six2 knockout heterozygous mice not exhibit any obvious abnormalities. However, Six2 knockout nullizygous mice die soon after birth
Abolished the production of (2S,9S)-annullatin D, but not that of (2R)-annullatin F, (2R)-annullatin G, and (2S,9S)-annullatin H
No visible phenotype. Rad23a and Rad23b double knockout is embryonic lethal. Cells show reduced cell survival upopn UV radiation and reduced steady-state level of Xpc indicating a reduced NER capacity
Deletion mutant mice are born at half the expected rate, and survivors show a marked deficit in contextual fear conditioning, an indicator of defective hippocampal-dependent learning (PubMed:20178993). Loss of ZDHHC5 in oligodendrocytes inhibits myelination and reduces the expression levels of myelin-related and anti-apoptosis genes (PubMed:34724258)
Dwarf plants with cytokinetic defects in leaf epidermal cells. Abnormally developed and branched root hairs. Retarded root growth with the protrusion of many epidermal cells from roots. Heavily bundled and disoriented cortical microtubules resistant to oryzalin. Exhibits a seedling-lethality phenotype. Defects in the formation of the cell plate. Abnormal mature pollen grains. Abolished CO(2)-mediated stomatal closure (PubMed:27694184)
Reduces significantly the conidial yields
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Strongly reduces conidiation (PubMed:28894236). Causes only mild infection in point-inoculated spikelets of flowering wheat heads and impairs the spreading to nearby spikelets (PubMed:28894236). Strongly reduces the production of deoxynivalenol (DON), an important virulence determinant (PubMed:28894236)
Results in the lack of trehalose in spores, a rapid loss of the cytoplasm, organelles and viability of spores, and a dramatic reduction in tolerance of conidia to heat and oxidative stress (PubMed:17912349). Down-regulates genes associated with spore maturation and up-regulates certain development-associated genes (PubMed:24391470). Results in elevated accumulation of beta-glucan in asexual spores (PubMed:25960370)
Deletion results in the overproduction and secretion of inositol to the growth medium
Mutants are significantly less enteropathogenic that the wild-type strain in intestinal ligated loops and are impaired in their ability to promote polymorphonuclear leukocytes movements across the model epithelial monolayer
Morpholino knockdown in the embryo causes reduced heart beating rates and cardiomyocyte numbers at 48 hours post-fertilization (hpf) (PubMed:29888752). At 72 hpf, embryos display pericardial and yolk sac effusion and pronounced cardiac malformation coupled with defects in posterior development (PubMed:29888752). Embryos also lack ventricular epicardium at 96 hpf (PubMed:29888752)
RNAi-mediated knockdown at L1 larval stage results in the disorganization of myosin thick filaments in adult body wall muscles characterized by the formation of abnormal myosin heavy chain myo-3 aggregates and V-shaped crossing of A-bands (PubMed:22621901). RNAi-mediated knockdown of mel-26 also results in increased lifespan (PubMed:29769719)
No visible phenotype. Double cshB-nfo mutants are as cold-sensitive as the single cshB mutant
High embryonic lethality at 14.5 dpc. As early as 10.5 dpc, embryos are smaller than their wild-type littermates. Embryos that survive long enough to initiate digit formation show one or more additional preaxial digits
Lethality in aerobic growth conditions and also during fermentation
Decreases the production of roquefortine C and meleagrin, as well as of all their intermediates HTD, DHTD, roquefortine D and glandicoline B (PubMed:22118684, PubMed:23776469, PubMed:25766600)
Male sterility due to abnormal formation of the tapetum and development of pollen mother cells arrested at the early stages of meiotic prophase I
Deletion of the yqcF-yqcG operon has no visible growth phenotype, however it is out-competed by wild-type cells
No visible phenotype; a triple cpcS/cpcU/cpcV deletion mutant has decreased amounts of allophycocyanin beta subunit (ApcB) compared to a double cpcS/cpcU deletion mutant. The lyase activity is therefore unsure
Reduced amounts of quinones
Leads to sensitivity to thiabendazole, camptothecin, DNA damaging agents, and microtubule depolymerizing drugs
Cells are a yellow color, 70% reduction in phycobiliproteins, grow slowly, have an increased sensitivity to high light and a long lag phase. The C-phycocyanin beta subunit (PhcB) in this strain is missing the phycocyanobilin chromophore on 'Cys-82'
Severely decreases localization of DMT5 to DNA (PubMed:31955845). Decreases methylation of the fifth carbon of cytosine (5mC) in DNA; simultaneous disruption of UHF1 exacerbates the effect (PubMed:31955845)
Mutant mice are born at the expected Mendelian rate, appear grossly normal and have apparently normal brain structure, but the pups do not feed and all die during the first day after birth. Cerebellum granule cells and hippocampus pyramidal neurons from mutants lack NMDA-induced Ca(2+)influx and membrane currents, contrary to wild-type
Knockout mice are fertile and morphologically normal with no defects in the skin or hair (PubMed:8977471). Corneal epithelia show histological abnormalities and can be easily detached from the corneal surface (PubMed:8977471). Reduced number of cell layers in the corneal epithelium, with superficial epithelial cells showing reduced adherence to underlying cell layers (PubMed:8977471). Keratin intermediate filaments aggregate into dense bundles in the corneal epithelium, with a reduced number of keratin filaments in basal and suprabasal epithelial cells, and an absence of keratin filaments in superficial epithelial cells (PubMed:8977471)
RNAi-mediated knockdown causes an arrest at the embryonic stage or at the L1 larval stage (PubMed:16828468). The few surviving animals grow more slowly (PubMed:16828468). L1 larvae have incomplete pharyngeal isthmus elongation, 36 percent of which have the pharynx detached from the buccal cavity (PubMed:16828468). In an umps-1 zu456 mutant background embryo, prevents the formation of abnormally enlarged gut granules (PubMed:20148972)
Reduced plant size, slightly delayed flowering, leaves with large round starch granules and starch in excess
Single ccoP mutant as well as ccoP rdxB double mutant give rise to colonies with very deep red pigmentation compared to wild-type when grown on SIS agar plates in the presence of O(2). The same mutants don't have cytochrome c oxidase activity and they accumulate high levels of a yellow carotenoid spheroidenone (SO) during anoxygenic photosynthetic and diazotrophic growth. Expression of crtA in the ccoP rdxB double mutant is approximately 60% higher than that observed for wild-type. Disruption of crtA together with ccoP and rdxB mutants prevent the accumulation of SO. CcoP and rdxB mutants, either singly or in combination, are found to synthesize photosynthetic complexes compared with wild-type when grown in the presence of 30% oxygen. They show a greater than 10-fold increase in levels of transcription of genes encoding photosynthetic light-harvesting complexes compared to the levels with wild-type. CcoP single mutant shows increased levels of photopigments bacteriochlorophyll and carotenoid under aerobic conditions. It produces more light-harvesting complexes and photopigments under photosynthetic conditions than under anaerobic dark conditions. It has no cytochrome c oxidase activity under anaerobic dark conditions. Addition of dimethyl sulfoxide (DMSO) to photosynthetic cultures of the ccoP mutant leads to decreased levels of photosynthetic light-harvesting complexes
Does not affect the production of roquefortine C but impairs the production of isofumigaclavines A and B (PubMed:28620689)
RNAi-mediated knockdown in one-cell embryo results in hyperactive nuclear and spindle movements from early prophase to metaphase characterized by vigorous rocking of nuclear/centrosome complex and its failure to center properly. Normal centrosome alignment during metaphase
Mice show a higher urinary pH and a more severe metabolic acidosis after oral acid challenge in comparison to wild-type littermates (PubMed:16174750). Mice show diminished innate avoidance behavior (revealed as a decrease in freezing time and an increase in the number of sniffs in the presence of trimethyl-thiazoline) and diminished innate appetitive behavior (a decrease in time spent investigating the urine of the opposite sex) (PubMed:23028982)
Strong increase in home cage locomotor activity during the dark phase (subjective day) of the light:dark (L:D) cycle. There were no changes in activity during the light period and in locomotor activity observed in other assays, e.g. novel open-field
Results in a block at stage II of sporulation. No fully engulfed forespores. SpoIIP mislocalization from the septal membrane
RNAi-mediated knockdown results in reduced spacing between the anterior and posterior crossveins of the wing, reduced levels of subapical cortical dachs, increased levels of dachs throughout the cytoplasm, increased total cellular levels of dachs and suppression of the overgrowth and dachs up-regulation seen in ft mutants
Increased susceptibility to the oomycetes Phytophthora brassicae and Phytophthora capsici associated with reduced expression of some defense genes (e.g. PR1, PDF1.2, CYP71B15 and CYP81F2). However, normal defense responses to the fungal pathogen Alternaria brassicicola and to the bacterial pathogen Pseudomonas syringae (PubMed:25083911, PubMed:26011556). Susceptibility to P. brassicae and P. capsici is enhanced in plants impaired in LECRK91 and LECRK92 (PubMed:26011556)
Inactivation of Rv3032 affects the production of both glycogen (two-fold reduction) and 6-O-methylglucosyl lipopolysaccharides (MGLP), but not that of capsular alpha-D-glucan. Cells lacking this gene are not affected in their multiplication or persistence in the BALB/c mouse infection model. They also show a slightly slower growth than that of wild-type at 37 degrees Celsius and a completely abolished growth at 39 degrees Celsius. Moreover, in contrast to wild-type, they are exceptionally sensitive to the TreS inhibitor validamycin A; the sensitivity is abolished by overexpression of TreS
Reduced survival in response to bacterium B.thuringiensis infection (PubMed:21931778). Simultaneous RNAi-mediated knockdown of ilys-2 results in a reduction in survival following bacterium S.aureus infection
Intracellular polyamine levels are reduced in hepatocytes. Infection of knockout mice with parasite P.berghei (ANKA strain) sporozoites results in a reduction in the parasite load in the liver compared to wild type mice
Embryonic wound healing defects. RNAi-mediated knockdown in tracheal cells results in defective gas-filling lumen in terminal branches (PubMed:23029159)
Essential. In depletion experiments there is decreased 5'-exonuclease processing of 16S rRNA (PubMed:17512403), decreased accumulation of correctly-sized scRNA (PubMed:17576666), decreased decay of trp mRNA leader (PubMed:18445592), while correct processing of the 5' end of 23S rRNA no longer occurs in the absence of mrnC (PubMed:19880604). While depletion/deletion of RNase J1 or J2 has no large impact on global gene expression, a double mutant alters the expression of hundreds of genes (PubMed:18713320). In a more severe depletion experiment alteration of about 30% of transcripts was seen (PubMed:22412379). Later shown not to be essential in 4 strains, with a tripled doubling time. 168 trpC2 cells able to grow on minimal medium. Loss of competence for plasmid transformation, nearly complete loss of sporulation, poor growth at 30 degrees Celsius and no growth under 25 degrees Celsius. Increased sensitivity to a wide range of antibiotics. Irregularly shaped cells form clumps of spiral cells connected by long chains, with few visible septa, cell walls are altered with looser, less dense peptidoglycan. Double pnp-rnjA or rnjA-rny mutants could not be isolated (PubMed:23504012). Increased half-life of both RNAs of the type I toxin-antitoxin system BsrE/SR5 (PubMed:26940229)
No visible effect on seed development, but significant reduction of 11S seed storage protein content in the mature seeds (PubMed:19639386). Enhanced drought tolerance (PubMed:25333723)
Impairs the production of GA3 and of its immediate precursor GA7, but accumulates GA4 and GA1 (PubMed:12750377)
In knockout mice, hepoxilin turnover to trioxilins is greatly abolished (PubMed:21217101). In livers, the activity toward HxA3 (8-hydroxy-(11S,12S)-epoxy-(5Z,9E,14Z)-eicosatrienoate) and HxB3 (10-hydroxy-(11S,12S)-epoxy- (5Z,8Z,14Z)-eicosatrienoate) is greatly reduced compared with the WT mice (PubMed:21217101)
Mice are viable and fertile but have fewer connective-tissue-type mast cells; mast cells that remain having an altered morphology and severely reduced amounts of stored histamine and mast cell proteases
Mice are fertile and do not display overt phenotype. However, reduced endoplasmic reticulum stress response to high-fat diet is observed. Aged mice also display systemic autoimmunity, a significant and spontaneous production of several forms of autoantibodies being detected and glomerulonephritis and deposits of complement and immunoglobulins within their glomeruli being observed. They also display reduced bone mass
Cells have a weak magnetic response and make magnetosome membranes. Magnetite crystals are amorphous, smaller than wild-type and irregularly spaced (PubMed:20212111). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
Cells lacking this gene accumulate anhMurNAc. Deletion of this gene increases fosfomycin sensitivity. Growth rate is not affected
In normal conditions, no obvious developmental or behavioral defects are observed, except that but the brood size is smaller. Upon exposure of L1 larvae to hydroxyurea, replication stress sensitivity is observed, resulting in increased sterility
Mice are healthy and fertile and do not display any abnormal phenotype
No visible phenotype; due to the redundancy with gnb5b. Simultaneous knockout of gnb5a and gnb5b results in no striking dysmorphologic features, but the larvae show impaired swimming activity, remain small, and generally die 7-14 days post fertilization (dpf), most likely as a result of their inability to feed
No visible phenotype under normal growth conditions, but mutant plants accumulates reduced levels of digalactosyldiacylglycerol (DGDG) during phosphate limitation
Cells lacking this gene have a significantly reduced growth rate in the early exponential phase, exhibit an increased rate of autolysis at the stationary phase of growth and do not achieve the same final optical density as the wild-type strain. Their growth is almost completely impaired at 40 degrees Celsius, in contrast to that of the wild-type strain which is unaffected at this temperature. The mutant strain is also more susceptible to oxidative stress, to osmotic stress, and is less tolerant to acidic pH. Moreover, inactivation of stkP leads to morphological changes: a significant number of cells do not have the typical ovoid shape but appear to be longer with rather oval poles, and they exhibit an apparent cell division defect. Complete loss of Thr-phosphorylation, competence is decreased (PubMed:27776484)
Resistance to molybdate
No visible phenotype under normal growth conditions (PubMed:22158466). The double mutants rpt2a and rpt2b are blocked in both male and female gametogenesis (PubMed:22158466, PubMed:21784786)
Impairs the production of deacetyl astellolides A and B and leads to the accumulation of trihydroxy confertifolin
Worms display mitochondria with an interconnected morphology, presumably due to defects in the assembly of outer membrane fission/fusion components
Runt phenotype (small plants with hooked leaves). Epinastic leaves and defect in root development. High levels of endogenous free auxin. Altered tryptophan genes regulation
Important perinatal lethality, due to defects in brain development. After 14.5 dpc, embryos display dramatic malformations of the mesencephalon and metencephalon, and especially the cerebellum. They show mild midbrain hydrocephaly by 17.5 dpc. Only one out of ten live-born pups survives more than 30 days; these mice respond normally to light, sound, smell and touch, but display severe ataxia
Defective activation of the ribosome quality control (RQC) pathway (PubMed:28757607, PubMed:28223409). Mildly defective ribosome stalling induced by RNA arrest sequences (PubMed:28223409). Sensitive to anisomycin (stalls ribosomes in the rotated state) (PubMed:28757607)
RNAi-mediated knockdown in oocytes results in inhibition of hyperpolarization-induced or swelling-induced current and in premature ovulatory contractions of gonadal sheath cells. Normal adaptive response to hypotonic swelling
Mice develop obesity when animals are fed a high-fat diet, as a result of an enhanced lipid accumulation in pre-existing adipocytes but not in other tissues
Results in a complete absence of citrate production (PubMed:26566947)
Slightly shorter body length as compared to wild-type (PubMed:27871170). Reduced calcium responses in AFD neurons upon a temperature increase from 16 to 20 degrees Celsius as compared to wild-type (PubMed:26232604). At 17 and 20 degrees Celsius displays cryophilic behavior, preferentially migrating towards colder regions (PubMed:26232604). RNAi-mediated knockdown disrupts tail tip morphogenesis resulting in retention of the pointed larval tail tip in adult males (also known as the Lep phenotype) (PubMed:21408209)
Viable with normal development, anatomy, motility, lifespan and brood size. Double knockouts with selt-1.1 are also viable with no visible phenotype
Increased content in linoleic acid and disappearance of gamma-linolenic and arachidonic acid
Exhibits hypersensitivity to salt, glucose and osmotic stress and slight hypersensitivity to abscisic acid (ABA)
Adcy8 knockout mice are fertile and seem normal. However mice reveal a tendency for both male and female to be somewhat smaller from day of life 45 and 30 respectively while food intake is normal. From there, females remain 10-15% smaller. In contrast, male transiently grew more slowly between day of life 45 and 92, after which point differences are not significant. Mice are less nervous
Cells lack polarity, move very slowly, and exhibit an elevated and temporally extended chemoattractant-mediated activation of the kinase Akt/PKB
Leads to progressive mitochondrial failure, hypersensitivity to oxidative stress, and decreased chronological life span
Impaired respiratory growth and sensitivity to 4-(N-(S-glutathionylacetyl)amino) phenylarsenoxide (GSAO)
Mutant is still able to grow and use TNT as the sole nitrogen source (PubMed:17504490). Deletion of the gene increases the HOCl sensitivity. Mutant shows no defect in survival of methylglyoxal stress (PubMed:23536188)
Deficient mice are fertile and grew normally. Ear-swelling responses induced by hapten-specific IgE are less pronounced in deficient mice, giving 35-55% of the responses of normal mice. The reduction in cutaneous responses is associated with decreased infiltration of lymphocytes, eosinophils, and basophils and decreased production of macrophage-derived chemokine and RANTES at inflammatory sites. In models of chronic contact hypersensitivity induced by repeated hapten application, CRTH2-deficient mice result in a reduction by approximately half of skin responses and low levels (63% of control) of serum IgE production
Defective in persistence phenotype shown by increased susceptibility to tuberculosis (TB) drugs rifampicin and pyrazinamide in both minimum inhibitory concentration (MIC) testing and drug exposure assays. The MICs of rifampicin and pyrazinamide decreased 4-fold and 2-fold, respectively. Reduced persistence in the mouse model of TB infection. Mutant was less able to survive and persist in the mouse lungs and spleens as shown by an about 10- to 30-fold decrease in colony forming unit (cfu) counts compared with the virulent strain
Embryo lethal in homozygous plants. Hypersensitivity to heat leading to the inability to withstand prolonged heat stress (4 days at 37 degrees Celsius), probably due to impaired heat-induced chromocentre decondensation associated with attenuated heat reactivation of various transcriptional gene silencing (TGS) loci
Leads to a defect in donor preference during mating-type switching (PubMed:27257873). Does not affect FKH1's overlapping role with FKH2 of regulation of the expression of the CLB2 cluster of genes during the G2/M phase of the mitotic cell cycle (PubMed:27257873)
Altered expression of 33 genes; 9 are down-regulated, the rest up-regulated
Disruption mutant shows a marked growth defect and premature entry into stationary phase relative to the isogenic wild-type during phosphate depletion (PubMed:25344463). Mutant shows markedly reduced survival during nutrient starvation (PubMed:25344463)
With the exception of OpS5, disables the expression of other genes associated with oosporein biosynthesis (PubMed:26305932)
Cells lacking this gene display increased rates of transcription of mutY, fabL, sspE and yfhP
Loss of 90% of Fe(2+) uptake into the cytoplasm, reduced growth rate in iron-limited medium, strain NCTC 11168; in iron-rich medium Fe(2+) uptake is not affected (PubMed:16988218). Reduced survival in human and pig epithelial cells after 3 days, strain 81-176 (PubMed:16988218). Reduced ability to colonize chick cecum, strains 81-176, ATCC 43431 and NCTC 11168 (PubMed:16988218). Outcompeted by wild-type bacteria in infection assays in piglets; the 3 different strains colonize different regions of the gut differently (PubMed:16988218)
Reduced number of dividing cells and slower rate of cell production and endoreduplication, thus affecting root meristem size and delaying postembryonic root growth (PubMed:21984726). Decreased expression of several cell cycle genes indicating a defect in cell cycle progression (PubMed:21984726). Extensive vacuolization in mitochondria (PubMed:21984726)
The pi21 allele confers an improved non-race-specific blast resistance toward Magnaporthe oryzae (PubMed:19696351). Reduced salicylic acid (SA) responses (e.g. WRKY45 expression) but increased systemic acquired response (SAR, e.g. PR1b and PBZ1 accumulation), jasmonic acid (JA, e.g. JAmyb expression) and abscisic acid (ABA, e.g. SalT expression) responses in response to M.oryzae spores (PubMed:26740780)
No visible phenotype in culture or upon infection of mice
GALNT2 knockout results in significant embryonic lethality. Surviving mice show decreased body weight, abnormal craniofacial features, and neuro-behavioral abnormalities, including deficits in coordination and impaired responses to acoustic stimuli (PubMed:32293671). Knockout mice have reduced HDL-C levels compared to wild-type littermate (PubMed:27508872)
Reduces meiotic recombination several hundred fold. Specifically affects meiosis, and does not have any detectable mitotic phenotype
Mutant cpk4-1 shows reduced ABA and salt responsiveness in seed germination
Cells fail to complete the final step of cytokinesis and form multinucleated cells when grown on a solid surface. Null mutants show excessive accumulation of F-actin around the periphery of the ventral surface. When grown in suspension, mutants lacking dwwA complete cytokinesis normally. Mutants lacking the N-terminal C2 domain fail to localize to the cell cortex
RNAi-mediated knockdown results in defects in feeding, and failed growth and development eventually leading to lethality at the late L1 to L2 stage of larval development. Morphological defects in the digestive tract, such as enlarged pharyngeal intestinal valve lumen, leading to functional defects including accumulation of ingested bacteria in the lumen of the posterior intestine and defective elimination from the anterior lumen of the intestine
Plants display elongated petioles and enhanced leaf margin serration and are able to germinate and develop in the presence of the programmed cell death (PCD)-inducing fungal toxin fumonisin B1 (FB1)
Defects characteristic of the loss of cuticle structure associated with an enhanced accumulation of cell wall-bound lipids and epicuticular waxes (PubMed:16415209, PubMed:17257167, PubMed:18952782, PubMed:26990896). Reduced expression of abscissic acid (ABA) biosynthesis genes (e.g. NCED3) in response to osmotic stress (e.g. polyethylene glycol) leading to reduced levels of ABA and high sensitivity to osmotic stress and drought, especially during seed germination and early seedling development (PubMed:21610183). Increased aerial tissue permeability to the toluidine blue (TB) dye (PubMed:18952782). Enhanced transpiration. Strong decrease in total cutin monomer load in young leaves and flowers. Reduced levels of suberin in roots (PubMed:26990896). Pleiotropic effect on growth, viability, and cell differentiation, leading to abnormalities such as long root hairs, excessively branched roots, shrinking of epidermal cells, and flattened/misshapen trichomes (PubMed:16415209). Strong increase of total lateral root lengths (TOT) on mild osmotic stress conditions (PubMed:18952782). Total immunity to the pathogenic necrotrophic fungus Botrytis cinerea accompanied by the release of a fungitoxic activity and increased expression of defense genes (PubMed:17257167)
Leads to higher level of PA accumulation
No effect on sensitivity to salicylic acid
Impairs FsC-mediated iron uptake
RNAi-mediated knockdown results in defects in nuclear migration in hyp7 hypodermal precursor cells (PubMed:27697906). RNAi-mediated knockdown in a dhc-1 (js319) mutant background results in defective nuclei migrations in larval hypodermal P-cells (PubMed:27697906)
Compromised in systemic acquired resistance (SAR) triggered by Pseudomonas syringae DC3000 avrRpt2 probably because of a reduced accumulation of glycerol-3-phosphate (G3P)
Failure of neural tube closure and death by embryonic day 14.5. Failure of cranial neural tube closure coincident with increased neuroepithelial apoptosis specifically in the hindbrain and the caudal neural tube. In addition, the number of tubulin beta-3 positive cells is significantly decreased in the embryonic hindbrain. Morphological defects in the embryonic craniofacial regions, the spinal neural tube and the limbs
Shows a pronounced survival defect at pH 2.5 not due to the nonmotile phenotype
Impairs the production of T-2 toxin and accumulates isotrichodermol and small amounts of 3,15-didecalonectrin and 3-decalonectrin (PubMed:10583973)
Abolishes the production of chaetoglobosin A (PubMed:33766309). Increases the expression of velB (PubMed:33766309). Leads to reduced amounts of spores (PubMed:33766309)
Leads to reduced growth rate and reduced conidiation and impairs appressorium formation (PubMed:27059015). Leads also to defects in response to light/ dark transitions (PubMed:27059015)
Prevents the formation of normal conidiophores (PubMed:2823119, PubMed:2152124). Fails to form any viable conidia, even though it does produce morphologically normal phialides(PubMed:2655931)
Mice have no overt phenotype but display compromised humoral and delayed-type hypersensitivity responses. They also have impaired secretion of IL17 and IL17F, higher susceptibility to Klebsiella pneumoniae and Citrobacter rodentium infection, do not develop experimentally-induced autoimmune encephalitis a mouse model of multiple sclerosis, collagen-induced arthritis a rodent model of rheumatoid arthritis and also spontaneous colitis induced by IL10 deficiency a rodent model of inflammatory bowel disease. Transgenic mice expressing Il23a ubiquitously display multiorgan inflammation and infertility, express acute phase genes, have impaired growth and dye prematurely
Mice show increased adipose mass and triacylglycerol deposition in multiple tissues. They accumulate large amounts of lipid in the heart, causing cardiac dysfunction and premature death
Slightly dwarfish, with long and narrow rosette leaves. Exhibits a delayed flowering time. Mutant displays enhanced susceptibility to the fungal pathogen G. cichoracearum
Normal growth on defined Evans agar supplemented with ammonium chloride, sodium nitrate, monosodium L-glutamate, L-glutamine, 200 mM putrescine, 50 mM cadaverine, 25 mM spermidine or 25 mM spermine as a sole nitrogen source (PubMed:28487688). No growth in complex LB medium supplemented with a mixture of 25 mM putrescine, 25 mM cadaverine, 25 mM spermidine and 25 mM spermine, inhibited growth with high concentrations of spermidine or spermine (100 mM) in the medium, but survival of the cells with only putrescine or cadaverine supplementation of the medium, although strongly delayed growth with cadaverine. Able to grow under starvation conditions on defined Evans agar supplemented with glutamate, glutamine, ammonium, nitrate or urea, decreased growth and no sporulation with putrescine, spermidine or spermine and no growth with cadaverine as a sole N-source in this medium. Intracellular accumulation of cadaverine, but not of putrescine or spermidine (PubMed:35409114)
Decreases two fold the citrulline uptake (PubMed:12949183). Leads to defective hyphal formation in solid hyphal-inducing media and exhibits less hyphal clumps when induced by N-acetylglucosamine (PubMed:12949183)
RNAi-mediated knockdown in embryos causes lethal arrest at the embryonic 3-fold stage or at the L1 larval stage with abnormal anterior morphology (PubMed:19427847). The few surviving animals lack 1 or both pairs of embryonic MS lineage-derived coelomocytes as well as the 2 post embryonic M lineage-derived coelomocytes (PubMed:19427847). RNAi-mediated knockdown in L1 larvae causes the loss of the M lineage-derived coelomocytes due to the abnormal differentiation of coelomocyte precursors M.drpa and M.dlpa into body wall muscle cells (PubMed:19427847). In 38 percent of animals, the motor neuron M4 sister survived (PubMed:20713707)
Cells lacking this gene show a delayed growth on butane and are unable to tolerate high level of 1-butanol (PubMed:11889098, PubMed:12142403). When both bdh and boh genes are inactivated, growth on butane and 1-butanol is eliminated (PubMed:11889098)
Defects cause hyperactive Ras phenotypes, probably due to diminished GPI-anchor protein production
Impairs the production of acetylaranotin and accumulates the intermediate cyclo-L-Phe-L-Phe (PubMed:23586797)
RNAi-mediated knockdown in per-expressing cells increases daytime sleep levels whereas night-time sleep levels are relatively unaffected
Mutants produce only low levels of ethylene when grown on MTA (PubMed:29133429). Deletion mutant accumulates both S-methyl-5'-thioadenosine and 5'-deoxyadenosine extracellularly (PubMed:31950558)
Leads to increased sensitivity to benomyl, diamide, and menadione, but not 4-nitroquinoline-N-oxide, cycloheximide, or fluconazole (PubMed:17046176). Increases the intracellular accumulation of 5-flucytosine and clotrimazole (PubMed:28066366)
Mutation completely abolishes the beta-hemolytic activity of A.actinomycetemcomitans
The senX3-regX3 deletion mutant shows a growth defect after infection of macrophages and is attenuated in both immunodeficient and immunocompetent mice (PubMed:12777483). Deletion of the gene leads to differential regulation of a set of genes involved in, among others, cell wall and cell processes, intermediary metabolism, respiration, virulence and transcriptional regulation (PubMed:35980355). Deletion mutant is attenuated in terms of its ability to withstand hypoxia (PubMed:35980355)
Mice are born at sub-Mendelian rate
Mutant mice show no gross abnormalities in size, viability, CNS morphology or longevity, but demonstrate enhanced performance in learning ability and memory and are more responsive to nicotine. Aging mutant mice exhibit a vacuolating neurodegeneration that is exacerbated by nicotine
Increased sensitivity to blue light leading to an enhanced phototropic bending and a faster response to gravitropic stimulus
Mice develop normally until 4 weeks of age. They show subsequent progressive growth retardation, atrophy of muscle, spleen, and thymus as well as severe apoptosis of T and B lymphocytes leading to premature death between 8-12 weeks of age. Mouse embryonic fibroblasts lacking Parl show high susceptibility to intrinsic apoptotic signals. This defect can be complemented by Parl or a soluble form of Opa1
Contains large vacuoles
Defective in chloroplast photorelocation movement, leading to damage of the photosynthetic apparatus and subsequent bleaching of leaf color and necrosis under high light conditions. Chloroplasts gathered at the bottom of cells, regardless of the light conditions
Mice present extensive liver damage from apoptosis and die as embryos. They show a marked reduction in TNF-alpha and IL1-alpha-induced NF-kappa-B activity
Slight growth delay compared to wild-type. No fibrous chromosomal DNA isolated from cells, DNA condensation is normal. Chromatin DNA is more sensitive to micrococcal nuclease. Alters gene expression levels of about 10% of the genome
Cells lacking amoA1 grow more slowly than wild-type cells, while cells lacking amoA2 grow at rates similar to wild-type
Cells lacking both P36 and P52/P36P show attenuated infection and do not form a parasitophorous vacuole within hepatocytes
Male mice are infertile with spermatozoa completely absent in the epididymis (PubMed:32674113). Male germ cells show derepression of transposable elements (TEs) and DNA hypomethylation of TEs (PubMed:32674113)
Maternal effect embryonic lethal (PubMed:21852953). RNAi-mediated knockdown results in reduced uterine cell specification (PubMed:21852953). Descendants of the ABa blastomere express lag-2 ectopically (PubMed:15935776)
Inviable cell population
Cells lacking this gene are constitutive in the expression of the trePA operon
Cells lacking this gene do not grow on methanol
Still contains stable, but U1-C-deficient U1 snRNPs. Changes the alternative splicing patterns of a large set of specific target genes. Results in an early embryonic lethality at about 5 days post-fertilization
Deficient mice have normal body weight and glucose tolerance when fed a regular chow diet, but are protected from obesity and glucose intolerance when challenged with a high-fat diet (PubMed:23744028). Knockdown of GPR83 has minimal impact on anxiety-like behaviors in female mice and a decrease in anxiety-related behaviors in male mice. In contrast, a local GPR83 knockdown in the basolateral amygdala leads to more anxiety-related behaviors in female mice (PubMed:34512237)
Insertion mutation in a CDC34 mutant background causes altered bud morphology
Strongly suppresses the egg-laying defect caused by a mutant form of egl-6. Very mild defect in egg-laying behavior when deleted in a wild-type background
Not essential. Impaired growth. Looses rod shape of cells. No teichoic acid in cell walls
Mice die during perinatal development and are the cause of the L5Jcs1 phenotype. They exhibit posterior-to-anterior transformations of the vertebral column midsection, similar to mice deficient for Hoxc8 and Hoxc9
RNAi-mediated knockdown suppresses RNAi-mediated silencing by siR-1, which are 22G-siRNAs (a class of secondary 22 nucleotide siRNAs that possess a triphosphorylated guanine residue at the 5'-end and are formed from 21U-piRNAs and 26G-siRNAs)
AgaA deletion mutant, but not agaA-nagA double mutant, can grow on N-acetyl-D-galactosamine. AgaA deletion mutant is probably able to grow on N-acetyl-D-galactosamine because NagA can substitute for the absence of AgaA. Deletion of agaA does not affect N-acetyl-D-glucosamine utilization
Reduces pathogenicity of the fungus on maize
In triple knockout plants missing MSSP1, MSSP2 and MSSP3, reduced accumulation of glucose and fructose during cold adaptation
RNAi-mediated knockdown in the intestine decreases the E.faecium-mediated protection against S. enterica infection (PubMed:35263319). RNAi-mediated knockdown reduces the expression of genes including bar-1 following E.faecium infection (PubMed:35263319). RNAi-mediated knockdown in the germline or the nervous system does not affect E.faecium-mediated protection against S.enterica infection (PubMed:35263319)
Mice have a relatively normal life span. However, they display deterioration in motor function with onset varying from 6 to 10 months as well as abnormalities in non-neuronal tissues. The prominent pathological features include limb weakness, muscular atrophy, axonal degeneration, neurofilament accumulation, an abnormal microtubule network, mitochondrial swelling and thinned myelin sheaths
Show normal fertility (PubMed:8033209). Display enlarged testes and ovaries (PubMed:8033209, PubMed:23235829). Display learning deficits and hyperactivity, in the absence of gross pathological abnormalities of the brain (PubMed:8033209). Display immature neurons with excess of long, thin growth cone filopodia and dendritic filopodia and spine protrusions with less synaptic contacts (PubMed:9144249, PubMed:11438589, PubMed:16631377, PubMed:17417632, PubMed:18539120). Show no increase in the number of dendritic filopodia-spine protrusions in response to KCL-mediated depolarization (PubMed:16631377). Display alterations in the appearance, distribution and volume of nuclear speckles (PubMed:24349419). Display enhanced metabotropic glutamate receptor-dependent long-term depression (mGluR-LTD) in the hippocampus (PubMed:11438589, PubMed:16908410, PubMed:12032354). Leads to excessive presynaptic action potential (AP) broadening in hippocampal and cortical neurons (PubMed:25561520). Show alteration in the splicing pattern of its own FMR1 mRNA in the cortex (PubMed:18653529). Alters the abundance and subcellular distribution of a subset of mRNAs in the brain (PubMed:12575950, PubMed:17417632). Display a reduction in the recruitment of certain FMR1 target mRNAs in actively translating polyribosomes at synapses (PubMed:12575950, PubMed:17507556). Display decreased delivery of specific mRNAs into dendrites in mGluR-stimulated neurons (PubMed:18539120). Display a delayed MAPB1 protein expression decline in the developing hippocampus (PubMed:15475576). Show a relief of ribosome stalling on dendritic FMR1 target mRNAs (PubMed:21784246). Display enhanced postsynaptic protein synthesis of a subset of FMR1 target mRNAs (PubMed:12581522, PubMed:16908410, PubMed:19640847, PubMed:21784246). Unable to induce postsynaptic protein synthesis of a subset of FMR1 mRNA targets in response to mGluR activation (PubMed:16908410, PubMed:17507556). Display enhanced presynaptic protein synthesis of the voltage-dependent calcium channel CACNA1B (PubMed:24709664). Display also enhanced protein synthesis of a subset of FMR1 target mRNAs in ovaries (PubMed:23235829). Display reduced postsynaptic protein synthesis of a subset of FMR1 target mRNAs (PubMed:12927206, PubMed:14614133, PubMed:19640847, PubMed:19166269, PubMed:21490210). Display reduced general protein synthesis in synapses in response to mGluR activation (PubMed:15548614). Impaired localization of Fxr2 to post-synapses (PubMed:27770568). Show brain-region specific reduction in the expression and/or localization of FAM206A/Simiate (PubMed:24349419). Display similar myelin basic protein (MBP) nexpression level in brain cerebrum than in wild-type mice (PubMed:23891804). Display an absence of nuclear foci on meiotic pachytene-stage chromosomes (PubMed:24813610). Show incomplete resolution of single-strand repair intermediates, crossing over and pairing of homologous chromosomes during meiotic prophase in a subset of spermatocytes (PubMed:24813610). Mice lacking both Fxr2 and Fmr1 display exaggerated learning deficits, characterized by prepulse inhibition of acoustic startle response and contextual fear conditioning compared with single mutant (Fxr2 or Fmr1) mice (PubMed:16675531). Impaired nuclear export of N6-methyladenosine (m6A)-containing mRNAs, resulting in the nuclear accumulation of neural differentiation-related mRNAs, which causes delayed neural progenitor differentiation (PubMed:31340148)
Impairs the synthesis of terretonin but accumulates dimethylorsellinate through the decomposition of an unstable intermediate (PubMed:23116177)
Mice are viable and fertile, but have a lower body weight than wild-type, due to a reduction in fast-twitch muscle mass. Fast-twitch muscle from mutant mice exhibits slower contraction kinetics and requires more time to achieve peak tension and to achieve half-relaxation after a contraction. Fast-twitch muscle fibers from mutant mice show a strikingly altered structure of the calcium release units in the sarcoplasmic reticulum with a strongly increased number of ryanodine receptors, plus narrower sarcoplasmic reticulum cisternae. In addition, the number of mitochondria is increased in mutant muscle. Mutant muscle fibers show smaller calcium transients upon electrical stimulation and release less Ca(2+) in response to caffeine
No growth phenotype in low, continuous light, dysregulation of expression of many genes. In a light/dark regime cells grow very slowly (PubMed:10786837, PubMed:20133618, PubMed:22512339). At medium light lowers kaiA and kaiBC expression, attenuating but not destroying circadian rhythms and affecting the expression of many genes (clock output) (PubMed:10786837, PubMed:20133618). Chromosome compaction remains rhythmic (PubMed:16707582). Loss of circadian control of gene expression; KaiA protein levels are unaffected, KaiC is constitutively phosphorylated (PubMed:16882723). Phospho-RpaA is barely detected (PubMed:23541768)
Loss of atrioventricular canal formation and cardiac looping
Cells lacking this gene lose the ability to grow on L-arabinose but not on D-xylose
Right-handed twisting of petioles when associated with SPR2 disruption
Leads to whitish colonies with longer aerial hyphae and reduced conidiation and perithecium formation, with morphologically abnormal conidia that undergo abnormal germination (PubMed:29502265). Increases the conidium autophagy (PubMed:29502265). Results in a significant higher production of deoxynivalenol (DON) but does not affect pathogenicity (PubMed:29502265). Exhibits increased resistance to osmotic and oxidative stress as well as cell-wall perturbing agents (PubMed:29502265)
Impairs the production of griseofulvin, but accumulates the intermediates norlichexanthone, griseophenone E, griseophenone F and desmethyl-dehydrogriseofulvin B (PubMed:23978092)
Plants double the number of leaves, and leaf size and plant height are reduced to about the half that of the wild-type. Some inflorescence branches are converted into vegetative shoots (PubMed:14711998, PubMed:9724697). Late flowering and excessive vegetative growth (PubMed:19337211)
Reduced sensitivity to several IAA-amino acid conjugates
Mutant mice show increased high-fat diet induced obesity, increased visceral fat depositions and exacerbated INS resistance (PubMed:24910243). In a model of systemic candidiasis, mutant mice are deficient in clearing C. albicans in kidney, liver and spleen, resulting in increased mortality (PubMed:19342668). In K/BxN serum transfer arthritis model, a well-described mouse model of inflammatory arthritis, mutant mice develop severe autoantibody-driven arthritic response characterized by increased leukocytic tissue infiltration, pannus formation and bone and cartilage destruction (PubMed:20432503). In a model of allergic pulmonary inflammation induced by dust mite D. farinae, mutant mice show impaired T helper type 2 immune response associated with markedly decreased granulocyte infiltration in bronchoalveolar fluid and decreased goblet cell metaplasia (PubMed:20817863). In a model of antigen-induced asthma following repetitive A. Alternata inhalation, mutant mice display impaired pulmonary eosinophil infiltration and overall impaired allergen-induced inflammation (PubMed:29346348)
Embryos show severe brain necrosis
Affects the production of 2-(2-(2-carboxyacetamido)propanamido)benzoic acid and downstream compounds and accumulates 2-(2-aminopropanamido)benzoic acid (PubMed:29196288)
RNAi-mediated knockdown causes an increase in Mn(2+)-mediated dopaminergic CEP neuron degeneration
No visible phenotype at birth (PubMed:23959653, PubMed:27119146, PubMed:28115524). Mice are born at the expected Mendelian rate (PubMed:23959653, PubMed:27119146). Two and six month old mutant mice display a decreased ratio between trabecular bone volume and tissue volume in tibia and femur, plus decreased connectivity density in femur and tibia (PubMed:23959653, PubMed:27119146). Osteoblast number is not affected, while osteoclast numbers are increased, suggesting that increased bone resorption is the cause for the low bone mass phenotype (PubMed:23959653). Lysine hydroxylation of skin and bone collagen alpha chains is strongly reduced (PubMed:27119146, PubMed:28115524). In contrast, prolyl 3-hydroxylation is not affected (PubMed:23959653, PubMed:27119146). Dorsal skin displays impaired packing of collagen fibrils, decreased skin tensile strength, decreased skin stiffness and increased skin fragility (PubMed:27119146, PubMed:28115524). Likewise, mice deficient for both P3h3 and P3h4 display decreased lysine hydroxylation of collagen alpha chains, but normal collagen prolyl 3-hydroxylation (PubMed:28115524)
Normal pollen development, but no pollen germination
Mutants are viable but display reduced brood size and enlarged lysosomes
Mice are viable but exhibit abnormalities of the innate immune system
Seedling lethality when homozygous due to impaired photosystem I (PSI)
Grows more slowly with a longer lag phase and decreased final density compared to wild-type. Cells are significantly smaller (PubMed:27776484, PubMed:28710862). Suppresses deletions of PBP2b (penA). Double penA-khpB or rodA-khpB deletions partially alleviate the slow growth phenotype of the single deletion (PubMed:28710862). KhpA is no longer targeted to midcell (PubMed:30842445)
Loss of 100S ribosomes. Shows no change in growth in pure culture after 13 days, however performs very poorly (about 1000-fold decrease) in competition with wild-type (PubMed:25422304). About 5-fold less virulent than wild-type upon oral or tail vein injection of BALB/c mice (PubMed:25422304). Sensitive to aminoglycoside antibiotics in stationary phase; sensitivity is suppressed by transcription and translation inhibitors or by disrupting the proton motive force (PubMed:26324267). Stationary phase cells have 5-fold higher than normal levels of ATP and NADH and accumulates higher intracellular levels of gentamicin (PubMed:26324267). Aminoglycosides such as gentamicin bind to ribosomes and interfere with translation
Defects in vein connectivity early in mutant embryo development leading to reduced complexity of cotyledon vein networks and disconnected veins, including in embryos provasculatures (PubMed:25149602). The mutant deal1-1 exhibits a bilateral symmetry breaking but no obvious defects in dorsoventrality; early leaf primordia fail to acquire bilateral symmetry and instead form ectopic lobes and sinuses (PubMed:29139551). Developmental defects of pistils, some being bent or coiled or twisted, and some showing unfused carpels with exposed ovules (PubMed:29139551). In leaves, marginal cells expressing properly polarized PIN1 are badly recruited, thus leading to misplaced auxin maxima, as well as defects in cell proliferation but not in cell expansion (PubMed:29139551). Altered spatial pattern of CUC2 (PubMed:29139551). The double mutant vcc ops exhibits a complete loss of high-complexity vascular networks (PubMed:25149602). The vcc-3 deal2-1 and vcc-3 deal3-1 double mutants show leaf asymmetry (PubMed:29139551). The vcc-3 deal2-1 deal3-1 triple mutant shows a strong leaf asymmetry (PubMed:29139551)
No visible phenotype under normal growth conditions, but mutant seedlings exhibit enhanced sensitivity of lateral root inhibition by abscisic acid (ABA), and reduced suppression of primary root growth by ABA
Pupal lethal (PubMed:24224125). Results in smaller eye, leg and wing disk, brain lobe and salivary glands (PubMed:24224125). Results in defective entry and/or progression though S phase during the cell cycle in eye imaginal disk cells (PubMed:24224125). Results in defective endoreplication in salivary glands (PubMed:24224125)
Shortened circadian period. The clock is hypersensitive to red but shows normal responses to blue light. By contrast, inhibition of hypocotyl elongation is hyposensitive to red light but hypersensitive to blue light
Development up until embryonic stage 9.5 dpc is normal. After this point, mortality rates increase rapidly with less than 5% survival at stage 12.5 dpc. The yolk sac endoderm is abnormally thin with fewer mitotic cells. In addition there are fewer blood islands in the yolk sac, associated with impaired hematopoiesis. Expression of many miRNA-regulated genes in the yolk sac is abnormal, and in particular there is marked derepression of genes involved in regulation of apoptosis and the cell cycle. miRNA biogenesis is not affected
Disruption results in low transformability, which can be rescued by the addition of excess zinc
Cells accumulate extracellular fumarate
Reduces both the basal and, to a greater degree, agonist-stimulated glycerol releases. the ADRB2-stimulated liposlysis
Cells lacking this gene do not produce mycolipanoic acids, mycolipenic (phthienoic) or mycolipodienoic acids, the major constituents of polyacyltrehaloses, but synthesize all of the other classes of lipids. The absence of the major acyl chains that anchor the surface-exposed acyltrehaloses causes a novel growth morphology
RNAi-mediated knockdown reduces viability
Animals are cryophilic and move toward lower temperatures irrespective of cultivation temperature in contrast to wild-type animals which move toward their cultivation temperature when placed on a temperature gradient. AIA and AIY interneurons display defective neurite morphology. NSM neurons display loss of or reduced expression of a number of terminal identity markers including cat-4, flp-4, bas-1, ptps-1 and mgl-1. Reduced expression of ceh-23, kal-1, C36B7.7, ser-2, unc-17 and sra-11 is observed in AIY interneurons. Preexposure to odorants fails to leave an olfactory imprint. Mean lifespan is reduced by 10% with decreased pharyngeal pumping and increased intestinal autofluorescence caused by lysosomal deposits of lipofuscin, indicative of cellular damage and aging. Formation of very few dauers in starvation conditions. No defects observed in brood size, egg number or chemotactic behavior toward volatile chemicals
In the urdA-deficient strain, the urocanate reductase activity measured in the crude extract from cells anaerobically grown on a mixture of urocanate and fumarate (or urocanate and nitrate) is about 20-fold lower than in the wild-type. This strain is not affected in its ability to grow in the presence of fumarate, but fails to grow anaerobically on urocanate
Mice exhibit a severe bile acid conjugation defect (PubMed:16618417). Display a significant reduction in both liver lipid uptake and content and show a redistribution of lipids away from the liver to other tissues (PubMed:16618416). Hepatocytes show significantly reduced long-chain fatty acids (LCFA) uptake (PubMed:16618416)
Abolished the production of penilactone A, peniphenone D and terrestric acid
Morpholino knockdown of the protein causes abnormal morphology of the proximal kidney
Defects in venation pattern in leaves and cotyledons
Abnormal floral organ and pollen development, and leaf bleaching
Cells do not produce significant amounts of rapamycin. Cells supplemented by L-pipecolate restore levels of rapamycin
Semi-dwarf plants with pale-green leaves, abnormal chloroplasts, reduced carotenoid and chlorophyll content and increased hydrogen peroxide levels
Leads to the loss of oosporein production (PubMed:26305932)
Cells lacking this gene display impaired growth (PubMed:12657046). Strains with a thyX deletion could not be obtained (PubMed:22034487)
Disruption results in severely reduced transformation frequency, but has no detectable effect on either the frequency or the location of division septa
Abolishes the production of arthrobotrisins A to D and arthrosporol A (PubMed:26422178, PubMed:27723963, PubMed:33823587). Displays significant increases in the trap formation and the nematicidal activity (PubMed:26422178). Develops far more adhesive trapping devices and traps and increases the number of captured nematodes by the traps (PubMed:33823587). Shows significantly increased ammonia levels in fungal mycelia (PubMed:33823587)
Deficient mice exhibit a significantly shorter circadian period
Accumulation of cell corpses (PubMed:26598553). Appears immunocompromised resulting in susceptibility to bacterial infection (PubMed:6857247, PubMed:1936965, PubMed:18606143). Reduced or lack of association of ppk-3 and rab-7 with the phagosomal surface (PubMed:18351800). Defective in the recruitment of lysosomes to phagosomes (PubMed:16740477). Double knockout with the P-granule component pgl-1 results in an increased number of cell corpses in the gonad as compared to the ced-1 single mutant (PubMed:26598553). Conversely, double knockout with pgl-1 or pgl-3 results in reduced somatic cell apoptosis (PubMed:27650246). Double knockout with the synthetic multivulva class B protein hpl-2 results in reduced somatic cell apoptosis at 25 degrees Celsius (PubMed:27650246). Triple knockout with hpl-2 and pgl-1 partially recovers the reduced somatic cell apoptotic cell defect in the ced-1 and hpl-2 double knockout (PubMed:27650246). Triple knockout with hpl-2 and pgl-1 and knockdown with either ced-3 or ced-4 reduces the somatic cell apoptosis defect in the ced-1, hpl-2 and pgl-1 triple knockout (PubMed:27650246). Double knockout with hpl-2 and knockdown with either pgl-1, pgl-3, glh-1 or glh-4 RNAi rescues the reduced somatic cell apoptotic cell defect in the ced-1 and hpl-2 double knockout (PubMed:27650246). Knockout with RNAi-mediated knockdown of synthetic multivulva class B proteins lin-9, lin-35, lin-37 or lin-54 results in reduced somatic cell apoptosis (PubMed:27650246)
Altered microtubule-dependent dynamics of cellulase synthase (CESA) complexes (CSCs) (PubMed:22190487, PubMed:21150290, PubMed:20616083, PubMed:22294619, PubMed:22751327, PubMed:23623553, PubMed:24368796). Reduced cellulose content, with abnormal organization of cellulose microfibrils (PubMed:20616083, PubMed:23623553). Anisotropic growth defect; abnormal cell expansion, such as reduced cell elongation but increased cell volume, leading to radially swollen epidermal cells in both primary root and dark-grown hypocotyls, as well as dwarfism (PubMed:7743935, PubMed:21150290, PubMed:20616083, PubMed:22294619, PubMed:22190487, PubMed:22427339, PubMed:24368796). Organ and cell twisting leading to alterated phyllotaxis, such as subtle right-handed torsion of the inflorescence stems and hypocotyls, and associated with altered microtubule organization and uncoupled cellulose deposition from cortical microtubules (PubMed:22294619, PubMed:23623553). Reduced fertility due to smaller gynoecia with fewer ovules, heterostyly, the inability of anthers to release pollen, and pollen defects displaying irregular or collapsed cell wall morphologies as well as altered pollen tube development (PubMed:22427339, PubMed:21150290, PubMed:20616083, PubMed:22294619). Defective anther dehiscence. Decreased number of ovules per gynoecium. Hypersensitive to the microtubule-disrupting drug oryzalin. Altered depolymerization of cortical microtubules in response to dehydration. Enhanced sensitivity to exogenous calcium leading to root growth inhibition (PubMed:22427339). The csi1 csi3 double mutants shows an enhanced cell expansion defect compared to csi1 as well as an additive reduction of cellulase synthase (CESA) complexes (CSCs) velocities (PubMed:24368796)
Inactivation of the gene leads to resistance to serogroup B phages. Disruption leads to altered WTA that lacks the alpha-GlcNAc residues. Mutant exhibits no major changes in growth kinetics, microscopic appearance or antibiotic susceptibility
Morpholino-treated larvae show a reduction in eye size and significantly fewers green cone photoreceptors compared to the wild-type (PubMed:30573563). Moderate to severe eye morphological defects, with a defective formation of the retinal structures (PubMed:27613029)
Gross morphological abnormalities causing larval arrest with associated molt defects and low levels of embryonic lethality. Cuticle function and integrity are also impaired
RNAi-mediated knockdown leads to premature cell-cycle reentry of the Z2/Z3 primordial germ cells in L1 stage larvae (PubMed:26073019). RNAi-mediated knockdown and DNA damage induced by the ribonucleotide reductase inhibitor hydroxyurea in germ cells results in impaired DNA repair, but does allow for nuclear division (PubMed:27956467). In the proliferative zone of these germ cells, nuclei do not arrest following DNA damage, but prematurely divide and are smaller compared to wild-type (PubMed:27956467)
Cells are defective in inducing cell-type-specific gene expression and exhibit defects during aggregation, including reduced chemotaxis
Grows more slowly in aerobic liquid culture and on plates, severely impaired growth in unactivated mouse bone marrow-derived macrophages and in infected mice
Knockout oocytes exhibit significant defects in germ cell development, leading to reduction in primordial germ cell number in the offspring, irrespective of the genotype of the father (PubMed:30086300). Barely affects piRNA populations (PubMed:30086300)
Decreases the gylcerol uptake in presence of ethanol
Embryonic lethality when homozygous. Embryo development arrested at very early stage (early pre-globular stage), leading to aborted shrunken seeds. Constitutive autophagy (PubMed:27545962)
Cells lacking this gene are unable to oxidize glyoxylate
Decreases translation of transcription factor fil1 (PubMed:29432178). Decreases RNA level and translation of genes involved the response to amino acid starvation (PubMed:29432178)
Knockout mice are fertile, but have enamel hypoplasia and small teeth (PubMed:30504223, PubMed:34812512). Abnormal ectopic expression of CDH1/E-cadherin in inner enamel epithelium (IEE) cells, but not in cells of the stratum intermedium (SI) at postnatal day 1 (P1) (PubMed:30504223). Inhibits the growth of clipped incisors (PubMed:30504223). Significantly reduces mRNA levels of SOX21, AMBN, ENAM, and AMELX in molars at P1 (PubMed:34812512). Develops fewer, smaller, incisors at 3 months of age in a transcription factor SP6/Epfn knockout background (PubMed:30504223). Epithelial cell invasion is inhibited and CDH1 ectopically expressed in dental epithelial cells at 3 months of age, in an SP6 knockout background (PubMed:30504223)
RNAi-mediated knockdown at the procyclic stage causes severe growth defect and a severe reduction in mRNA editing (PubMed:11893335, PubMed:20086102, PubMed:26833087, PubMed:27744351). Reduced production of guided RNAs (gRNA) and rRNAs due to a block in the processing of gRNA and rRNA precursors (PubMed:20086102, PubMed:26833087). Accumulation of unprocessed precursors for some pre-edited and never-edited mRNAs (PubMed:20086102)
No visible effect on growth on Neu5Ac at pH 7.0 and 37 degrees Celsius. Shows slight systematic growth delay at pH 6.0 and 20 degrees Celsius. No visible phenotype on glucose
Flies die from growth arrest in the first-instar larval stage
A transposon insertion in this gene eliminates the uptake of GABA and severely inhibits the utilization of GABA as a nitrogen source (PubMed:8951816). Triple deletion of gabP, putP and opuE confers resistance to the proline analog 3,4-dehydro-DL-proline (DHP), abolishes GABA utilization and prevents use of proline as a nitrogen source (PubMed:24142252)
Leads to irreversible cell damage, growth arrest and an extreme sensitivity to SDS
Embryonic lethality due impaired gastrulation (PubMed:22072575, PubMed:27870829). Mesoderm formation is disrupted, and cells do not ingress (PubMed:27870829). Instead, a single layer forms, and the embryo fails to properly establish its body plan, leading to embryonic arrest (PubMed:27870829). Conditional deletion in the developing retina leads to progressive disorganization during late retinal development: retina show progressive thinning of the photoreceptor layer and sites of cellular mislocalization (PubMed:23001562). Conditional deletion in the dorsal telencephalon leads to defects in the maintenance of the apical complex (PubMed:26802325)
Abnormal auxin responses leading to altered root physiology (e.g. elongation, meristem morphology and gravitropism) and aberrations in cotyledon number and venation. At later developmental stages, reduced apical dominance and aberrations in lateral organ positioning at inflorescence stems
Premature aging associated with a shortened life span, probably caused by mitochondrial degeneration and autophagy. 8 week old mice begin to acquire a set of aged appearance phenomena remarkably similar to those of premature aging syndrome, including prominent eyes and protruding ears. Ocular abnormalities are observed: mice develop opaque eyes and blindness, which is accompanied by cornea damage at 20 week old. The opacity of the cornea is due to debris deposition in the scar tissue outside the cornea. In addition, corneal neovascularization is observed, possibly impairing vision. An early depigmentation in the fur at around 48 week old is also observed; furthermore, hair follicle atrophy and a decreased hair density is detected. A decrease in the hair regrowth rate is also observed. Additionally, the skin of 48-week-old mice exhibits a phenotype with a noticeably thickened dermis, an expanded surface, and a significant decrease in subcutaneous adipose tissue and muscle. The trabeculae of the femur are noticeably thinner and dual energy X-ray absorptiometer (DEXA) detects a decrease in femur density after 8 week old. Mice also display a significant lordokyphosis phenotype after 12 week old; leading to a decrease in mean thoracic volume and thence pulmonary function abnormalities. Muscle degeneration is detectable at 3 week old with a progressive degeneration of muscle fibers and the magnitude of the degeneration exacerbated with age
Knockout pcd mice show hyperglutamylation of alpha- and beta-tubulins in the brain (PubMed:22170066). Knockout mice promote somatic cell reprogramming and higher litter size at birth (PubMed:29593216)
Is synthetic lethal with PLC1
Worms exhibit abnormal locomotion, unregulated contraction of the sarcomeres due to small portions of each myofibril shortening irregularly and independently from another causing rigid paralysis. This is due to poorly defined sarcomeric structure, with small islands of thin filaments interspersed within the overlap region of A bands and the H zone
Males are sterile
No difference in the levels of punicalagin in pomegranate hairy roots in a single RNAi knockdown of this gene. However, double RNAi knockdown of this gene together with UGT84A23 leads to significantly reduced levels of punicalagin and bis-hexahydroxydipheynyl glucose isomers, and to increased levels of galloyl glucosides (ether-linked gallic acid and glucose)
Small leaf size phenotype (PubMed:29702752). Abolished Gram-negative bacteria-mediated promotion of root elongation triggered by the N-acyl-homoserine lactones (AHLs) N-3-oxo-hexanoyl-homoserine lactone (3OC6-HSL) and N-3-oxo-octanoyl-homoserine lactone (3OC8-HSL) (PubMed:22206669). Insensitivity to melatonin-induced stomatal closure associated with abolished melatonin-induced H(2)O(2) production and Ca(2+) influx (PubMed:29702752). Reduced osmotic stress tolerance associated with increased reactive oxygen species (ROS) accumulation (PubMed:33924609)
Reduced secologanin levels but accumulation of 7-deoxyloganic acid
Deletion of the gene does not affect growth on glucose or galactose. Double deletion mutant kdgK1/kdgK2 loses the ability to grow on galactose
Plasmid transformation is restored
Mutants are viable and females are fully fertile. Males show premature mitochondrial aggregation and fusion in spermatocytes and spermatids, leading to an aberrant mitochondrial shell around premeiotic nuclei. Improper mitochondrial localization occurs in the testis associated with defective central astral spindles and a lack of contractile rings which leads to meiotic cytokinesis failure
Reduced levels of alpha- and beta-tubulin (PubMed:19825635). Altered development patterns and disturbed microtubules (MTs) organization (PubMed:19825635). Hypersensitivity to high NaCl salt levels (PubMed:19825635). Increased capacity to tolerate freezing temperatures upon acclimation (e.g. 7 days at 4 degrees Celsius) associated with a continuous accumulation of HY5 in cold conditions (PubMed:28412546)
Deletion of icl1 in cells growing on 0.1% propionate shows 10 and 8-fold decrease of isocitrate and methylisocitrate lyase activity, respectively
Mice are sterile due to arrest in spermatogenesis associated with a gradual loss of germ and Sertoli cells from the testis
Abnormal flower and shoot apical meristem (SAM) development with fused sepals and reduced organ numbers in all four whorls as well as flatter and smaller meristems (PubMed:15367721, PubMed:23335616). Reduced levels of gibberellins (GA) but increased content of trans-zeatin riboside (ZR) and auxin (IAA) (PubMed:26390296). Coordinated apical shift of gene expression patterns in the basal proembryo, including auxin transporter genes and resulting in apical redistribution of auxin (PubMed:20643354). Altered WUS expression from early embryogenesis (e.g. globular stage) (PubMed:15367721). The double mutant an3 han-30 exhibits severe defects in cotyledon development such as ectopic roots formation at the apical region of the embryo and associated with an abnormal expansion of PLT1 expression from the basal embryonic region to the apical region (PubMed:22669825). The double mutant pnh-2 han-2 has smaller inflorescence meristems (IM) and taller floral meristems (FM) leading to fewer petals. The double mutant han-2 jag-3 exhibits reduced petal numbers, more serrated sepals and narrower petals (PubMed:26390296)
Null mice exhibit neutropenia, characterized by absence of neutrophils. This results in growth retardation, susceptibility to bacterial infection and early lethality. Immature granulocytes and macrophage precursors accumulate in bone marrow. Mice have inner ear anomalies, as they are ataxic, circle, display head tilting behavior and do not respond to noise. In the inner ear, hair cells are disorganized in both vestibule and cochlea. Outer hair cells of the cochlea are initially improperly innervated, and just before birth, mice lose all cochlear hair cells due to apoptosis. By 5 months there is a dramatic reduction in the number of cochlear neurons
Develop normally but when mixed with wild type cells they sporulate less efficiently than the wild type. Do not show major alterations in gross histone acetylation levels
Reduction in viability and frequent wing defects
Mislocalizes ATG8 in the cytosol, when ATG11 is also deleted (PubMed:26442587)
Fishes display severe embryonic morphological and cellular abnormalities such as abnormal morphogenesis in the head and tail, pericardial edema, defect of blood cell circulation, and an increase of apoptotic cells, especially in the head and neural tube regions, at 36 hours post-fertilization
Male and female sterility. During meiosis, synapsis is uncoupled from recombination and pairing in the mutant gametes
No visible phenotype under normal growth conditions, but 25% lower levels in triterpenoids content and 15% lower levels in sterol content. Hmg1 and hmg2 double mutants are lethal during male gametophyte development
Deletion mutant displays a 2-fold increase in the doubling time when galactan is the sole carbon and energy source
Reduced number of lateral roots
Embryo defective. Arrested at one-cell zygotic stage
Mice accumulate heparan sulfate in visceral organs and the central nervous system and develop neuronal cell death and behavioral deficits (PubMed:22689975). This accumulated heparan sulfate exhibits unique non-reducing end structures with terminal N-sulfoglucosamine-3-O-sulfate residues (PubMed:22689975)
Mice display fine wrinkles on the lateral trunk which start to form 5 weeks after birth. There are no apparent epidermal differentiation defects
Knock-down of darG expression leads to increased ADP-ribosylation of genomic DNA by DarT and induction of the DNA damage response including recA, dnaB and dnaE2; darT and darG are also induced
Cells lacking this gene are auxotrophic for lipoic acid when grown in minimal medium but grow as well as the wild-type strain in the presence of lipoic acid. The requirement for lipoic acid can be bypassed by addition of both acetate and branched-chain fatty acid (BCFA) precursors. The mutant cells are devoid of lipoylated proteins
Short straight root hairs
Loss of bacteriocin sublancin 168 production, but not resistance to sublancin
Longer root hairs
Deletion of the gene does not decrease the rate of electron transfer from physiological substrates to the Nap complex, but it has a significant effect on cell energetics
Defects cause some sensibility to 6-azauracil, an inhibitor of purine and pyrimidine biosynthetic enzymes, and methylene blue, a producer of singlet oxygen. These effects are probably due to the inability to synthesize pyridoxal 5'-phosphate
'Noisette' means 'hazel nut' in French, and is due to the small size of testes in mutants
Disruption of the gene leads to overproduction of glycogen containing short external chains
Still produces ascofuranone but impairs the production of ascochlorin and leads to the accumulation of ilicicolin A epoxide
Cells lacking this gene show auxotrophy for methionine and threonine
Does not affect the prodution of trichothecenes (PubMed:12135578)
Cells are a yellow color, 40% reduction in phycocyanin and grow slowly. The C-phycocyanin beta subunit (PhcB) in this strain is missing the phycocyanobilin chromophore on position 153
No effect on processing of liberated signal peptides in vivo
For single rpoE mutant increased sensitivity to singlet oxygen when carotenoid levels are low. For double rpoE-chrR deletion mutant no effect on anaerobic photosynthetic growth. In illuminated aerobically growing cells single and double deletion is bacteriostatic
Male sterility (PubMed:8390620, PubMed:9351246). Very thin pollen wall with abnormal exine patterning (PubMed:9351246, PubMed:21813653, PubMed:21849515)
Deletion of inlB alone decreases host cell entry; the reduction varies from 99% to 37% depending on the cell line tested
Knockout mice show moderately but consistently bigger brains than wild-type animals. Cell density and thickness of upper cortical layers (II-IV) are increased, while there are no differences in neuronal density in layers V and VI (PubMed:18033766). Neurons in layer II-III show simpler morphologies, with a significant decrease in the dendritic length and the number of branches, as well as a severe reduction of dendritic spines density associated with synaptic defects. The working memory is impaired (PubMed:20510857)
Cells lacking this gene are unable to grow in minimal media and fails to establish a symbiosis with alfalfa, and these defects can be rescued by the addition of vitamin B12 (cyanocobalamin) or the lower ligand of cobalamin, 5,6-dimethylbenzimidazole (DMB)
No visible phenotype under normal growth conditions, but when grown with urea as a sole source of nitrogen, plants are chlorotic and accumulate increased levels of anthocyanin
Mice are viable but show male sterility (PubMed:22144916, PubMed:23401851). Mice display reduced body weight and partial alopecia; alopecia is caused by impaired stem cell differentiation in the epidermis, leading to a delay in initiation of anagen (PubMed:22144916). Mice lacking both Nsun2 and Trdmt1 display a complete loss of cytosine-C5 tRNA methylation, leading to development defects and impaired cellular differentiation causing lethality before P3 (PubMed:22885326). Male sterility is caused by impaired germ cell differentiation in the testis: meiotic progression of germ cells is blocked into the pachytene stage, while spermatogonial and Sertoli cells are unaffected (PubMed:23401851)
Not essential for growth, strains missing one copy or both grow slower and have a different morphology than wild-type
The pelL mutant displays a reduced virulence on potato tubers and Saintpaulia ionantha plants
Nonflagellate. Forms dense colonies without swarming in contrast to the wild-type which forms diffuse colonies with large, swarming halos. Expression of flagellins FlaA and FlaB and the hook protein FlgE greatly reduced
Embryonic lethality, leading to the birth of only 7% homozygous mutant pups, instead of the expected 25%. Only two out of eight pups were female. Crossing homozygous mice gave rise to about one sixth of the normal litter size, and many newborns died within 48 hours after birth. Homozygous newborns display no striking phenotype other than smaller bones and especially shorter long bones, and this phenotype persists into adulthood. The radius, ulna and tibia are frequently bent in newborns, but this is no longer the case in young adults
Cells lacking both prpC and prpD genes are unable to grow on propionate or cholesterol as the sole carbon source
Cells form a fewer number of larger aggregates
RNAi-mediated knockdown results in early lethality
Impaired kinase activity and reduced plant sensitivity to abscisic acid (ABA)
Decreased efficiency of the male gametophyte transmission and reduced fertility
Male sterility due to lack of tapetal programmed cell death (PCD) and degeneration, leading to defects in formation of male gametophytes
Up-regulation of nlp-29 is severely impaired in the hyp7 and vulva epidermal cells following fungal infection by D.coniospora or physical injury
Deficient mice are fertile and display elevated levels of methionine and S-adenosylmethionine in the liver. At 3 and 8 months of age, the livers at 3 and 8 months of age show evidence of fatty accumulation and fibrosis that worsen progressively
Cells form fruiting bodies with a reduction of 90% of viable spores and without SDF-2 activity. Diazepam (Valium) can mimic SDF-2 in Dictyostelium bioassay
No visible phenotype (PubMed:7635808). Slightly copper sensitive (PubMed:7635807). Decreased numbers of stationary phase cells bind to hydrophobic surfaces, cellular adhesion has altered dynamic properties; no induction of cpxR when cells bind to hydrophobic surfaces (PubMed:11830644)
Animals fail to feed or vocalize and die within 48 hours of birth. At 18 dpc, the global structure of the central nervous system is normal. However, at the cellular level, nuclear envelope abnormalities, with membranous vesicle-appearing structures in the perinuclear space, are observed in multiple areas of the central nervous system, including neurons of the spinal cord, pons, frontal cortex, and hippocampus
Constitutive knockout combined with conditional knockout of SIK3 in the haemopoietic cells results in a severe reduction in peripheral T-cells without reducing B-cell number
Leads to increased sensitivity to oxidative stress and to iron depletion (PubMed:15755917, PubMed:17056706). Reduces the virulence toward maize plantst (PubMed:15755917, PubMed:23980626). Causes a defect in colonization in planta, but not in prepenetration growth or in penetration (PubMed:17056706)
Disruption of this gene leads to the significant accumulation of D-2-HGA, and thus impairs D-2-HGA utilization
Leaf vascular tissue patterning defects: simpler leaf venation with distal non-meeting of the secondary veins and fewer higher order veins, a narrower leaf with prominent serrations, and reduced root and shoot growth. Normal early endocytic events, but disrupted cellular trafficking. Reduced vacuolar targeting resulting in expanded expression of PIN1 in leaf margins and altered expression pattern of PIN1 and ATHB8 in secondary veins
In spo-63 (loss of residues 27-255); no spores develop, no induction of sporulation-associated enzymes
Bacteria longer spread intra- or intercellularly, does not infect adjacent cells, still forms intracellular microcolonies in the host (PubMed:2644195, PubMed:2542950). Decreased adhesion to host cells (PubMed:24721572)
Mice are infertile with azoospermia. Spermatogenesis is arrested at the level of spermiogenesis
Reduced sleep (PubMed:15858564). Flies sleep for one-third of the wild-type amount (PubMed:15858564). They perform normally in a number of tasks, have preserved sleep homeostasis, but are not impaired by sleep deprivation (PubMed:15858564). They also have a reduced lifespan (PubMed:15858564). Males are able to discriminate between males and females during courtship but their courtship of females is reduced, suggesting that their perception and/or response to wild-type female pheromones is decreased (PubMed:22292044). RNAi-mediated knockdown in all neurons or specifically in the mushroom bodies of adult males, impairs their ability to discriminate between males and females (PubMed:22292044). However, knockdown in various chemosensory peripheral neurons has no effect on male sex discrimination (PubMed:22292044)
No visible phenotype under normal growth conditions, but mutant plants show enhanced sensitivity to prolonged low-temperature exposure
Impairs the production of neurosporaxanthin and leads to the accumulation of torulene
Mice exhibit spermatozoa retention in stage IX tubules and a reduction in the number of sperm in the epididymis, leading to a reduction in fertility (PubMed:15649457). Show defects in germ-cell development (PubMed:32665638)
No visible effects. When associated with heterozygote POL2A disruption; lethal, with sporophytic embryo-defective with an arrest at the globular stage during embryo development. When associated with esd7-1 mutation of POL2A; very early flowering
RNAi-mediated knockdown causes distal tip cells (DTC) to make extra turns in approximately 20 percent of animals during the last phase of gonad morphogenesis
Mutant contains unmethylated protein L11 (PubMed:15317787). Null mutant is perfectly viable (PubMed:15317787)
Embryonic lethality when homozygous. Arrest of embryo development at the torpedo stage
Does not produce lolitremanes but accumulates both simple and O-prenylated paspalanes (PubMed:22750140)
High chlorophyll fluorescence and reduced non-photochemical quenching (NPQ) caused by defects in photosynthetic electron transport. Specifically deficient in the electron carrier plastoquinone, as well as in beta-carotene and the xanthophyll lutein, and defective in membrane antioxidant tocopherol metabolism. Altered plastoglobule protein composition (PubMed:24267661). Abnormal development with albino cotyledons and paler mesophyll cells leading to yellow-green leaves due to reduced contents of carotenoids and chlorophyll, as well as changes in the numbers of chlorophyll-binding proteins of the photosynthetic complexes (PubMed:22447966, PubMed:24267661, PubMed:25882344). In bdr1-1 and bdr1-2, increased accumulation of anthocyanin under red and blue light conditions. Exposure to red light for 5 days leads to dwarf plants with pale green rosette leaves. Reduced level of D1 protein, product of psbA, one of the four core subunits of the photosystem II (PSII) (PubMed:25882344). Increased levels of chlorophyll degradation products such as chlorophyllide (Chlide) a and pheophorbide a. Stronger photosynthetic and metabolic perturbations in response to high light stress and methyl viologen (paraquat, MV), a herbicide triggering photooxidative stress, strongly affecting carbohydrate metabolism (PubMed:22447966, PubMed:24267661). However, the mutant acclimates to high light after 7 days together with a recovery of carotenoid levels and a drastic alteration in the starch-to-sucrose ratio (PubMed:24267661). Lower transcript levels of the oxidative stress response genes FSD1, CSD1, CAT1, and UTG71C1 after MV treatment (PubMed:22447966). Conditional light stress phenotype in the double mutant abc1k1 abc1k3 that displays rapid chlorosis upon high light stress and slower, but irreversible, senescence-like phenotype during moderate light stress, drought or nitrogen limitation, but not cold stress. This senescence-like phenotype is associated with the degradation of the photosystem II core and up-regulation of chlorophyll degradation. Modified prenyl-lipid composition in plastoglobules (PG) probably due to reduced VTE1 activity and loss of CCD4. Abnormal recruitment of plastid jasmonate biosynthesis enzymes in PG (PubMed:23673981)
Ookinetes fail to traverse the midgut epithelium resulting in a reduced number of oocysts in the gut epithelium of the mosquito host, A.gambiae or A.stephensi (PubMed:28559405, PubMed:29873127). Gametogenesis, and ookinete development and motility are normal (PubMed:28559405). The capacity to infect the mouse host by the few sporozoites made in the mosquito host is not affected (PubMed:28559405)
Mice are viable and fertile (PubMed:18534766). Mice however display impairment in synaptic plasticity in the CA1 area of the hippocampus (PubMed:18534766). Mice exhibit decreased neural progenitor cells in the subgranular zone of the dentate gyrus during the early postnatal period, leading to decreased volume of dentate gyrus, reduced long-term potentiation and impaired spatial learning ability in adults (PubMed:21159798)
Deletion of the gene leads to selective loss of phenolic glycolipids (PGL)
Mice were born at expected Mendelian ratio but display decreased bone mass (PubMed:15109498). Embryos and pups show a delay in mineralization of the skull with frontal, parietal, and interparietal bones of reduced size (PubMed:15109498). Mice also display a significant reduction in long bone length at one month of age (PubMed:15109498)
No visible macroscopic phenotype under normal growth condtions. Increased number of plastoglobules (lipid bodies) in chloroplasts
RNAi-mediated knockdown results in the production of additional AVM/PVM neuronal precursors
Mutants showed defects in vulval morphology and in the asymmetric division of stem cell-like epithelial cells
Reduced fertility and shorter siliques bearing a lower number of seeds compared with wild-type plants. Cytogenetic characterization of meiosis in the mutant line reveals that both male and female meiosis are defective
Flies display locomotory deficits and complete embryonic lethality. The mutant NMJ reveals a 50% loss in evoked glutamatergic transmission, and an accumulation of synaptic vesicles at active zones. They also display a 3-fold accumulation of DCVs in synaptic terminals
Egg-laying defects, defective oogenesis in 30% of mutants, reduced brood size and increased resistance to oxidative stress inducer paraquat (PubMed:20578245). Abnormal mitochondrial morphology with mitochondria appearing larger and as localized swellings and tubular extensions (PubMed:20578245, PubMed:21248201). Mitochondria also have elongated and curved cristae that are stacked with a reduced number of junctions (PubMed:20578245, PubMed:21248201). Double knockout with immt-2 results in a more reduced brood size and enhanced resistance to paraquat-induced oxidative stress as compared to the single mutant, and in addition, mutants are slower swimmers, have increased hydrogen peroxide-induced reactive oxygen species (ROS), and reduced mitochondrial mass accompanied by reduced superoxide anion oxidation (PubMed:20578245). Double knockout with chch-3 RNAi results in reduced or no brood, poor growth and withered gonads (PubMed:21248201)
A knockout mutant was shown to be weakly hemolytic on sheep blood agar, does not produce the external halo of incomplete hemolysis characteristic of L.ivanovii and does not give the typical shovel-shaped cooperative hemolytic 'CAMP-like' reaction that happens with Rhodococcus equi. Is also much less virulent for mice infected intravenously
Deletion strain produces no detectable surface pili (PubMed:16352829). Abolishes also mucoidy and algD transcription (PubMed:10476040)
No visible phenotype. Mice are fertile and healthy, display slightly reduced numbers of myeloid cells and are more sensitive to lipopolysaccharide (LPS). Mice lacking both Fps/Fes and Fer activity are viable and fertile, but produce fewer offspring than normal. They display elevated levels of circulating neutrophils, erythrocytes and platelets, while other cell counts are normal
Disruption of the cwlO gene affects neither the vegetative cell growth rate, cell morphology, motility, sporulation frequency nor the germination frequency
Embryonic death at 2.5 dpc (PubMed:18804437). Progression from embryonic 1- to 2-cell stage delayed 6-8 hours. Less than 20% of the embryos progress beyond 2-cell stage (PubMed:18804437). Embryos form unequal sized blastomeres due to smaller, dysmorphic, and displaced mitotic spindles resulting in asymmetric division (PubMed:25208553). Decrease in thickness of subcortical F-actin in zygotes, thickening of F-actin bundles in the cytoplasm and loss of F-actin cytoplasmic lattices (PubMed:25208553). Decrease in CFL1/Cofilin-1 expression in the subcortex and diffused distribution in the cytoplasm of zygotes (PubMed:25208553). Decrease in expression of the SCMC component ZBED3 in oocytes (PubMed:28992324). Oocytes exhibit greater amounts of DNA damage and show an inability to repair DNA double strand breaks (PubMed:29955025). Increase in oocyte apoptosis upon treatment with the DNA cross-linking agent cisplatin (PubMed:29955025). Increased number of oocytes in primordial and primary follicles in 4 week old mice, however this number is decreased in 16 week old mice (PubMed:29955025). 4 hour delay in reaching 50% germinal vesicle breakdown (GVB) with a 20% decrease in the number of oocytes that complete GVB. 2 hour delay in reaching 50% polar body extrusion (PBE) with a decrease of 20% in the number of oocytes that complete PBE (PubMed:29955025)
Strong reduction of seed mucilage accumulation and major decrease in rhamnogalacturonan I (RG I), associated with reduced absolute levels of rhamnose (Rha), arabinose (Ara) and galacturonic acid (GalA) but increased absolute abundance of minor sugars (e.g. galactose (Gal), xylose (Xyl), glucose (Glc) and mannose (Man)) (PubMed:30228108). The double mutant muci70-1 gaut11-3 is completely defective in seed mucilage production and exhibits a strong release of minor sugars in total mucilage extracts (PubMed:30228108). Plants missing both MUCI70 and IRX14 exhibit a severe reduction in both xylan- and pectin-related sugars in total seed mucilage extracts (PubMed:30228108)
No visible phenotype (PubMed:9056646). Mice reproduce normally, give birth to live offspring and do not display any obvious phenotypic abnormalities (PubMed:9056646)
Abolished chloroplast NADH dehydrogenase-like (NDH) complex-dependent cyclic electron transport (CET) around photosystem I (PSI) (PubMed:32978277). The double mutant crr2 kea3 enhances the kea3 single mutant phenotypes, and delays induction of CO(2) fixation after overnight dark adaptation (PubMed:32978277)
No visible phenotype under normal growth conditions (PubMed:30859592). Reduced abscisic acid (ABA)-mediated growth arrest during the post-germination stage, with stronger effect in plants lacking both JMJ30 and JMJ32 (PubMed:30859592). The double mutant missing JMJ30 and JMJ32 exhibits an early-flowering phenotype at elevated temperatures (e.g. 29 degrees Celsius), associated with increased H3K27me3 levels at the FLC locus and decreased FLC expression (PubMed:25267112). The double mutant jmj30 jmj32 has longer primary roots (PubMed:30983495). In jmj30-2 jmj32-1 double mutants, reduced brassinosteroids (BR) mediated repression of ABA-inducible genes (e.g. ABI5, ABF2, ABF3 and ABF4) (PubMed:33324437)
No visible phenotype (PubMed:19563437). No decrease in uracil phosphoribosyltransferase activity (PubMed:19563437). Loss of sensitivity to 5'-fluorouracil and 5'-fluorouridine (PubMed:21828290)
Dwarf, narrow leaf, low tillering and altered kernal color phenotypes
Greatly decreased conjugtive transfer
Morpholino knockdown of ambra1a causes impaired dorso-ventral patterning in embryos (PubMed:23348054). Morpholino knockdown of ambra1a and ambra1b results in reduced autophagy and increased apoptosis during embryogenesis (PubMed:23348054). Morpholino knockdown of ambra1a and ambra1b results in impaired locomotion, caused by abnormal myogenesis (PubMed:24922546)
Chlorotic primary leaves soon after germination and plants not viable when grown under ambient air, but normal growth under CO(2)-enriched air
Failed to produce fumihopaside A, but leads to the accumulation of the aglycone intermediate
Death between 3.5 and 6.5 dpc. Heterozygous mutant do not display gross anatomic abnormalities. They however show abnormalities in developing cartilage. Nervous system-specific gene disruption by conditional knockout results in epileptic seizure. Displays no overt neurite outgrowth phenotype (PubMed:15790563). Shows a behavioral phenotype associated with a rodent model of schizophrenia, as observed in alterations in both sensorimotor gating and psychotomimetic-induced locomotor activity
Results in normal embryogenesis but animals remain in the L1 larval stage until death 4 days later (PubMed:28626879). Results in altered histone mRNA 3' processing and ultimately levels of histone protein expression (PubMed:28626879). RNAi-mediated knockdown results in lack of adult flies since all die as pharate adults; the animals seems completely normal except for their abdomen, which is undifferentiated lacking the characteristic pigmentation and bristles (PubMed:28626879). RNAi-mediated knockdown in the eye results in a variety of phenotypes with different intensity like perturbation of normal ommatidia arrangement, small lesions in the middle of the eye, duplicated or extra bristles, and adventitious antennae like structures (PubMed:28626879). RNAi-mediated knockdown in the midthorax leads to malformed thoraces with reduced scutellum, a prominent groove at the midline indicative of defective hemithorax fusion and abnormal micro and macrochaetae (PubMed:28626879). RNAi-mediated knockdown in the wings results in the production of ectopic vein material close to the wing margin (PubMed:28626879)
Mice exhibit a significant disruption in the circadian rhythm of several important hepatic genes involved in the metabolism of lipid, cholesterol, fatty acid and bile acid
Nr4a3 homozygous knockout mice are viable and normal in appearance; however, abnormal hyperactive and partial bidirectional circling behavior is observed by 3 weeks of age in 15% of these mice. The circling behavior is interspersed with noncircling periods of feeding, grooming, and sleep (PubMed:11784868). A small percentage of adult Nr4a3 homozygotes displayes brief freezing spells with tonic posturing that are exacerbated with handling (PubMed:15456880). The overall food consumption of Nr4a3 homozygous knockout mice is higher. Moreover, Nr4a3 homozygous mice lose more body weight upon fasting but clearly consumed more food during refeeding. By the end of the fasting period, Nr4a3 homozygous mice display signs of exhaustion (PubMed:23897430). Nr4a3 homozygous leads to embryonic lethality around 8.5 dpc (PubMed:13129926)
Display normal myoblast formation during embryogenesis, but show perinatal lethality because of a deficiency during the later stages of skeletal muscle fiber formation. Show no abnormalities for smooth muscles and cardiocytes differentiation. Conditional mutant with expression abrogated in muscle cells from 15.5 or 17.5 dpc are viable, fertil and exhibit no noticeable muscle growth and reduction of myofiber diameter defects but show smaller body size and mass. Conditional mutant in muscle cells of denervated hindlimb muscles show an inhibition of the denervation-dependent reductions in mass, force and atrophy of slow fiber-type soleus muscles, without increased in satellite cell proliferation and fusion
Mice are born at a much lower rate than predicted by the Mendelian ratio. Surviving mice show a reduced body size, low survival rate and delayed osteogenesis. Adult mice display craniofacial dysmorphism such as open cranial sutures, flattened faces with shorten nasal bones and skull anomalies. Moreover, magnetic resonance imaging (MRI) of brain shows significantly enlarged brain ventricles. Adult mice show defects in spatial recognition memory in a Y-maze task assay and a significant deficiency in motor coordination in rotarod assessments. Defects are probably due to calcium overload, calcium imaging results revealing a significant overload of endoplasmic reticulum calcium in osteoblasts
Morpholino knockdown leads to a phenotype ranging in severity from weak to severe that are developmentally delayed with disturbed brain patterning, necrosis in areas of the brain, aberrant eye development, impaired somitogenesis resulting in stacked somites, perturbed yolk sac extension and posterior axis extension with a high mortality rate of 93% at 5 days post-fertilization
Can use ethanolamine (EA) as a nitrogen source but not as a carbon source. Slightly attenuated in a mouse model of infection (PubMed:7868611, PubMed:2656649). No aerobic growth on EA supplemented with cobalamin (vitamin B12) (PubMed:10464203, PubMed:16272400). A non-polar deletion mutant does not grow on EA between pH 5.5 and pH 8.5, releases increased amounts of acetaldehyde on EA plus vitamin B12 (PubMed:16585748). A deletion allows growth on acetate, suggesting BMC assembly or maintenance is impaired (PubMed:23585538)
General sensitivity to DNA damaging agents. Increased sensitivity to methyl methanesulfonate (MMS), decreased survival after UV irradiation in transition and stationary phase, decrease in transformation with chromosomal DNA requiring homologous recombination (PubMed:9141693, PubMed:11810266). Increased sensitivity to mitomycin C, H(2)O(2), and nalidixic acid; a further disA deletion suppresses H(2)O(2) sensitivity but has no effect on MMS sensitivity, suggesting radA and disA might work in the same DNA repair pathway (PubMed:25616256). Partially suppresses DNA damaging agent sensitivity of recU deletions (PubMed:11810266). Suppresses a chromosome segregation defect in ruvA and recD mutants cells, but not in recU mutant cells (PubMed:15317759)
Large decline in secologanin and monoterpene indole alkaloids (MIAs) accumulation
Impairs the synthesis of anditomin but accumulates andiconin (PubMed:25216349)
No visible phenotype under normal growth conditions or in phosphate-deficient plants. Unable to form branched root hairs in response to iron-deficient conditions
Reduced size with a curly leaf phenotype associated with an abnormal constitutive PR1 expression (PubMed:28362261, PubMed:29073135). No spontaneous lesions, but enhanced cell death independent of salicylic acid (SA) biosynthesis or reactive oxygen species (ROS) production during pathogen infection (e.g. P.syringae and F.moniliforme) (PubMed:29073135). Heightened nucleotide-binding leucine-rich repeat protein (NLR, e.g. SNC1, RPS4, RPM1 and RPS2) accumulation and enhanced resistance against virulent pathogens (PubMed:28362261). Enhanced snc1-mediated autoimmunity including stunted growth, increased expression of pathogenesis related (PR, e.g. PR1 and PR2) genes and enhanced disease resistance against the virulent oomycete pathogen H.arabidopsidis Noco2, and reduced hemi-biotrophic bacterial growth of P.syringae pv. tomato (Pst) DC3000 expressing avirulent effectors AvrRps4 and AvrRpm1 (PubMed:28362261, PubMed:29073135). Abnormal resistance to plantago asiatica mosaic virus (PlAMV, genus Potexvirus) with the absence of infection foci prior to cell-to-cell movement (PubMed:27402258). Increased oxidative bursts, mitogen-activated protein kinase activation and callose deposition in response to the pathogen-associated molecular pattern (PAMP) flg22 (PubMed:29073135)
Male mice display postprandial and fasting hyperglycemia while female mice are normoglycemic but display higher plasma triglycerides
Leads to the loss of pyrichalasin H production, but accumulates the tyrosine and phenylalanine analogs of pyrichalasin H, called magnachalasin H and cytochalasin H
Increases the intracellular accumulation of 5-flucytosine and clotrimazole (PubMed:28066366)
5-fold reduced production of the first heme precursor 5-aminolevulinic acid (ALA) and 2-fold reduction in total heme. In combination with a disruption of HEM25 or an inactivated HEM1, abrogates mitochondrial respiration
Cells lacking this gene accumulate BABR
Single mutation, decreased extracellular putrescine, in an sapBCDF operon deletion no change in resistance to antimicrobial peptide LL-37. Operon deletion has no effect on growth, but if the putrescine importer PuuP is also deleted then growth is slower
Mutant shows no defect in chemotaxis toward L-amino acids. Mutant shows also decreased chemotactic responses to TCE, chloroform and methylthiocyanate (PubMed:16233808, PubMed:9353923). Deletion of pctA, pctB and pctC abolishes chemotaxis to 5 mM histamine, but significant chemotaxis is observed at a concentration range between 500 nM and 500 uM (PubMed:30425146). The pctABC-tlpQ deletion mutant is devoid of histamine chemotaxis over the entire concentration range (50 nM to 50 mM) (PubMed:30425146). The deletion mutant does not show significant reduction in swarming or immobilization near epithelial wounds, but the pctABC triple deletion mutant shows a significant reduction in chemotaxis and immobilization along wounds of human cystic fibrosis airway epithelial cells (PubMed:27031335)
Viable and fertile (PubMed:27577095). Results in lack of localization of the tectonic-like module proteins, namely MKS1 and B9d2, to the transition zone resulting in minor defects in sensory cilia (PubMed:27577095)
Slight reduction of rosette leaf size and reduction by 50 percents in fresh weight and seed production (PubMed:26889011). The double mutant plants mmdh1 and mmdh2 have decreased germination rate, grow slowly, are small, have increased photorespiration and die before producing seeds (PubMed:20876337)
Cells lacking this gene are unable to grow in medium in which the sole nitrogen source is either indole-3-acetonitrile (IAN) or phenylpropionitrile (PPN). Their growth is also moderately reduced in medium with ammonia as the nitrogen source; one possible explanation for this phenotype is that the disruption of Psyr_0007 results in the accumulation of endogenous nitriles that can no longer be degraded and which inhibit bacterial growth
Mild growth defect on 1,2-propanediol-cyanocobalamin medium; no growth is seen in a double cobA-pduO deletion
Severe defect in the ability of slugs to orient properly towards the light
Extremely slow growth, especially during the early stage of development
Disruption of the gene inhibits EGT uptake (PubMed:36347253). Mutant is more sensitive to bleach, the primary oxidant produced by activated neutrophils (PubMed:36347253)
No visible phenotype under normal conditions, but enhanced susceptibility to methyl viologen
Sterility due to dysfunction of somatic cells. Affects the store-operated Ca(2+) (SOC) activity
RNAi-mediated knockdown causes an increase in the number of germline cells in the mitotic zone, a lack of transition zone and a defect in pachytene progression resulting in a proximal gonad devoid of nuclei (PubMed:19826475, PubMed:16319922). Causes sterility (PubMed:19826475). RNAi-mediated knockdown in adults decreases lifespan (PubMed:20624915). RNAi-mediated knockdown of isoform b in lip-1 and puf-8 double mutant causes a decrease in number of germline tumors (PubMed:22820175). RNAi-mediated knockdown causes a reduction in intestinal ilys-3 expression in response to M.nematophilum-mediated bacterial infection (PubMed:27525822)
Mutants show various developmental defects including reduced tail circulation, and smaller head, eye and body
Abolishes the production of all the sesquiterpene ester compounds
Viable (PubMed:25741726). Dorsomedial or dorsolateral mistargeting of VA1d ORN axons (PubMed:25741726). No effect on the immune response to septic injury using a mixture of Gram-positive and Gram-negative bacteria; adult flies are able induce expression of antibacterial peptide genes (Drs, AttA, DptA and Mtk) and mount a proper innate immune response (PubMed:21158756)
Knockout mutant is hypersensitive to bedaquiline (PubMed:27573104). Deletion of the gene does not affect sensitivity to capreomycin, pretomanid and rifampicin (PubMed:27573104)
Mice display a complete lack of octanoylated ghrelin in blood
Development of pronephric cysts followed by death during early larval stages, at approximately 8 dpf, as a result of severe edema that is likely to be a consequence of pronephric disease progression. Fishes develop pronephric cysts with an increased proliferative index, severely reduced brush border, and disorganized pronephric cilia manifesting impaired localized fluid flow consistent with ciliary dysfunction. Electron microscopy analysis reveal ultrastructural irregularities of the dynein arms and misalignments of the outer-doublet microtubules on the ciliary axonemes
Loss of the gene does not alter resistance to cell envelope stressors
Mice show no gross developmental abnormalities, but exhibit an increased susceptibility to LPS-induced septic shock and are more sensitive to poly(I:C) shock, suffering more severe hepatic damage than wild-type animals. In response to LPS-stimulation, bone marrow-derived dendritic cells display an increased production of pro-inflammatory cytokines, such as IL6, TNF and IL12, as well as elevated IKK and JNK activation, compared to wild-type mice. Mutant embryonic fibroblasts are more resistant to vesicular stomatitis virus (VSV)-induced cytopathic effect
Exhibits a reduced copper content and leads to cell decolorization due to lower laccase activity, when ctrC is also deleted
Sperm directional motility defects (PubMed:16998478). RNAi-mediated knockdown causes a moderate resistance to nicotine-induced paralysis and a decrease in unc-38 synaptic expression along nerve cords without affecting lev-1 cellular expression levels in muscles (PubMed:15990870)
No visible phenotype under normal growth condition, but increased length of dark-grown hypocotyls, reduced responsiveness of hypocotyls to light and increased responsiveness to brassinolide (BL)
Not essential, slightly smaller colonies on minimal agar plates at 30 degrees Celsius. Strongly reduces RNase LS activity, restores growth of an enterobacteria phage T4 dmd mutant. Altered mRNA half-life for some cellular transcripts, including an increased half-life for an internal fragment of 23S rRNA. Allele rnlA2 is due to a premature stop codon at residue 33 (PubMed:15677746). Sensitive to high concentrations of NaCl, sensitivity is eliminated in a crp or cyaA deletion mutant. Increased levels of Crp and thus increased levels of cAMP
Mutants fail to aggregate to form a multicellular organism under conditions of low cell density
Morpholino knockdown of the gene in embryos results in ciliopathic phenotypes, including a ventrally curved trunk, small eyes, otolith defects, hydrocephalus, and reversed heart looping. In the spine of mutant animals, the cilia of the central canal form normally and there are no changes in the length or number of cilia, indicating that the gene is not required for ciliary development. However, the beating movement of motile cilia is rarely observed in mutant animals
The double mutant nac050 nac052 exhibits early flowering and increased H3K4 methylation on specific genes, thus leading to their derepression (PubMed:25578968). Impaired RNA-mediated gene silencing (PubMed:26617990)
Leads to the secretion of large amounts of deacetylated MEL D
Plants are arrested during endosperm development and have altered root hair development and pollen tube elongation
Decreased embryonic viability: embryonic and postnatal survival rates of homozygous mutant mice are markedly lower. Heterozygous knockout mice show defects in autophagy, increased levels of Cnr1 receptor, elevated food intake, and obesity and insulin resistance
Mice show reduced cerebellar size and internal granular layer (IGL) thickness in early developmental stages, delayed Purkinje Cell (PC) development, with an abnormal morphology and reduced cellular density, increased caspase-8 and caspase-3 activity in PCs and higher sensitivity to Fas-mediated apoptosis
No visible phenotype under photoautotrophic conditions in continuous light or in a light/dark regime with or without 0.2% glucose (PubMed:25139948). Growth in the dark (with glucose) is more impaired than in wild type (PubMed:31767776)
Deletion of the gene abolishes all WTA glucose modifications
Knockout mice have severely reduced cardiolipin (CL) (diphosphatidylglycerol) in mitochondrial membranes
RNAi-mediated knockdown results in the aberrant secretion and processing of the aspartic protease hrg-7 with accumulation of hrg-7 in its immature uncleaved form and in the intestine
Leads to hair loss
Cells lacking this gene have a twofold decreased response to salt and ethanol stress, and a somewhat reduced response to energy stress, indicating that PhoT is a positive regulator of sigma-B activity. It acts independently of both RsbRA and RsbRB (YkoB)
Significant increase in the ability to colonize the small intestine compared to the wild-type strain. No defect in biofilm formation. Enforced DncV expression in mutant cells lacking this gene causes an enhanced inhibition of chemotaxis. The double mutants lacking both VC_A0681 and VC_A0210 or both VC_A0681 and VC_A0931 show enhanced bacterial infectivity, and the triple one (VC_A0681, VC_A0210 and VC_A0931) has the highest infectivity, which demonstrates that V-cGAPs play non-redundant roles in cGAMP degradation
Worms exhibit defects in the completion of maternal meiosis, embryonic mitosis and arrest in embryogenesis
Reduced cytosolic and mitochondrial aconitase (ACO) activities by 70 and 20 precent, respectively (PubMed:17013749, PubMed:17437406). Increased tolerance to oxidative stress mediated by paraquat, a superoxide-generating agent (PubMed:17013749). Slightly higher production of CO(2) (PubMed:25061985)
Disruption of the gene confers increased resistance to Zn(2+), associated with reduced accumulation of Zn(2+) when cells are exposed to concentrations of ZnSO(4) below the minimal inhibitory concentration (MIC) (PubMed:10713426). Mutant is approximately four-fold more tolerant to tellurite, and cell viability remains almost unchanged during prolonged exposure to the toxicant as compared with wild type (PubMed:23189244)
Strains lacking this gene are attenuated in their ability to grow in bile, but display no growth defect under normal physiological conditions. The reduced tolerance of the mutant strain to acidic bile salts is likely due to a decreased branched fatty acid content of the membrane phospholipids, which results when L.monocytogenes is deficient in lipoic acid
Knockout is lethal (PubMed:30808661). Conditional knockout mice for dopaminergic neurons show increased dopamine release, accelerated vesicle pools replenishment and enlarged releasable vesicle pools in the striatum (PubMed:29311685). Forebrain-specific conditional knockouts are viable, fertile and have normal life span. They show impaired learning an memory (PubMed:30808661)
Plants lacking both TIFY4A and TIFY4B have larger leaves and cotyledon laminae, a dome-shaped leaf curvature and shortened siliques
Results in the production of exclusively acidic sophorolipids and a complete absence of any lactonic sophorolipids
Arrest at the 1-cell stage embryo due to a cytokinesis defect characterized by a failure to form a contractile ring
Defects in feminization. Embryonic arrest
RNAi-mediated knockdown abolishes recruitment of microtubule end-binding protein EB1/ebp-2 to a wound site (PubMed:31995031). Almost completely abolishes induction of nlp-29 expression upon infection with Drechmeria coniospora, or upon wounding (PubMed:31995031). Severely compromises expression pattern and recruitment of snf-12 upon wounding (PubMed:31995031)
Strongly decreases the growth rate on ethanol or acetate medium
Impaired meiotic recombination characterized by a shortage in bivalent formation due to a mislocalization of class I crossovers (COs) and correlated with strong synapsis defects. Dwarf plants, highly branched, with small crinkled leaves, small flowers and short fruits, symptoms of fertility defects
Worms a small body size, reduced number of progeny produced and partial embryonic lethality due to defects in import of proteins into mitochondria
Deficient mice exhibit less body weight gain and an increase in intestinal contraction frequency
Leads to the production of only traces of sorbicillinol, probably resulting of chemical conversions and not of enzymatic activity (PubMed:29104566). Abolishes production of trichodimerol and dihydrotrichotetronin in darkness (PubMed:28809958). Also impacts production of paracelsin in a light dependent manner, with decreased paracelsin levels in light, but likely in an indirect way (PubMed:28809958)
Adults develop normally, however females display ovarian defects and reduced fertility likely due to the significant decrease in TORC1 activity within the germline cells (PubMed:21521741, PubMed:25512509). Ovarian defects include adherent cyst divisions due to mitotic delay, accumulation of autolysosomes resulting in reduced number of egg chambers and reduced number of eggs laid per female per day (PubMed:21521741, PubMed:25512509). Spindle defects and mitotic delay results in egg chambers often containing 16 polyploid nurse cells and no oocyte because the oocyte enters the endocycle and develops as a polyploid nurse cell (PubMed:21521741). In early meiotic germline cells, the nucleoporin Mtor is displaced from the nuclear envelope to the nucleoplasm, most notably as cysts enter the meiotic cycle beginning in R2a of the germarium (PubMed:21521741). However, there is no effect on the recruitment of Mtor or other nucleoporins (Nup107, Nup153, Mtor and FG-containing nucleoporins) to the nuclear pore complex (PubMed:21521741). In contrast, somatic tissues do not display any obvious developmental defects; there is no decrease in TORC1 activity and no accumulation of autolysosomes in the larval fat body (PubMed:25512509, PubMed:21521741, PubMed:27166823). Increasing TORC1 activity in the mutant female germline via RNAi-mediated knockdown of the GATOR1 subcomplex members Nprl2, Nprl3, Iml1 or knockdown of Tsc1 rescues the ovarian defects (PubMed:25512509). However, knockdown of Nprl2 or Nprl3 does not rescue the accumulation of autolysosomes (PubMed:27166823)
Single deletion of ramS leads to a severe delay in aerial hyphae growth (PubMed:12453210). Deletion of the ramC-ramS-ramA-ramB operon on rich medium leads to an initially bald (no aerial hyphae) phenotype; after 4 days develops a substantial aerial mycelium. Wild-type mycelium on minimal medium (PubMed:17462011, PubMed:22309453). No expression of SapB, normal expression of chaplins. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011)
RNAi-mediated knockdown in the fat body results in reduced expression of the antimicrobial peptide gene Dpt following infection with E.coli
Methionine auxotroph. Undetectable levels of folylpolyglutamate synthase activity. Increased rate of loss of mitochondrial DNA. Respiration-deficient. MET7 and FOL3 double mutant cells are not viable even in the presence of methionine and folinic acid. MET7, FOL3 and TUP1 triple disruption mutant is able to germinate on YPGA medium containing thymidylate and to grow although poorly on synthetic medium containing methionine, adenine and thymidylate. Adenine and thymidine auxotroph when grown in the presence of sulfanilamide. Becomes petite under normal growth conditions but can be maintained with a grande phenotype if the strain is TUP1 and all media are supplemented with dTMP. MET7 and GLY1 double mutant is auxotrophic for glycine when grown on glucose but prototrophic when grown on glycerol. MET7 and SER1 double mutant cannot use glycine to suppress serine auxotrophy. MET7 and SHM2 double mutant is nonviable
Plant are deficient in a variety of auxin-regulated growth processes including lateral root formation, and hypocotyl and cell elongation
Mutant can use either a gluconeogenic carbon source or glucose as efficiently as the wild-type strain (PubMed:16788182). The ATP concentrations in the mutant grown in minimal medium with glucose are similar to the wild-type level. ATP concentrations decrease by about 10% in malate minimal medium. The mleA-maeA-malS triple mutant shows a decrease in ATP concentrations by about 20% and a moderate growth defect (PubMed:23136871). NADPH overproduction is roughly halved in the deletion mutant (PubMed:33824210)
Deficient mice are viable and fertile but display multiple immunological defects, most prominently high sensitivity to infections and defective tumor surveillance. Absence of TYK2 results in increased resistance against allergic, autoimmune and inflammatory disease
Mice do not survive past 11.0-12.5 dpc, and embryos display widespread apoptosis, a rapidly disintegrating liver structure and severe defects in hematopoiesis
Progeny of mutant females display widespread morphological defects and cell death and early embryos have asynchronous mitotic divisions and tangled chromosomes
Deficient mice are sterile and their fetal oocytes are arrested at early prophase I leading to oocyte depletion at 1 week of age
Mice mount mildy augmented T-helper 1 responses and display slightly lowered parasitic burdens upon Leishmania major infection
Mutants exhibit growth retardation, hyperglycemia, insulin resistance, lipodystrophy and hepatosteatosis (PubMed:27708159). Double knockouts for KBTBD2 and PIK3R1 have increased body weight, restored fat storage and decreased blood glucose and insulin (PubMed:27708159). Adipocyte-specific knockouts accumulate PIK3R1 in white and brown adipose tissues, causing insulin resistance, moderate rather than severe hyperglycemia, sustained hyperinsulinemia without late failure of insulin production and lipodystrophy leading to ectopic lipid accumulation in the liver. Adipocyte-extrinsic insulin resistance is observed in liver and muscle. None of these abnormalities are observed in liver- or muscle-specific knockout mice. Mice with knockout in adipocytes, liver and muscle show normal growth (PubMed:32381739)
Dwarf phenotype. Severe reduction in the mechanical strength of stems and collapsed vessels. Reduced fertility
In short day conditions, reduced growth and increased oxidative stress late in the dark period
Essential for normal growth
No visible phenotype under normal growth condition, but under Mn limitation, very slow growth and unable to take up Mn
Slightly retarded growth rate and reduced starch breakdown in leaves during the night
Homozygous knockout ABHD4 mice are born at the expected Mendelian frequency, are viable and healthy, and show no overt differences in their cage behavior compared to that of wild-type littermates
Mu-active bsd2-m1 mutants are specifically disrupted C4 differentiation in bundle sheath cells with reduced levels of bundle sheath cell-specific photosynthetic enzymes and aberrant bundle sheath chloroplast structure and altered RuBisCo complex formation (PubMed:12239405). Ectopic accumulation of RuBisCo large subunit (RbcL) in mesophyll cells (PubMed:12239405). Reduced accumulation in Mu-inactivated bsd2-m1 mutants exhibiting slightly pale green and grainy leaves (due to the random presence of altered bundle sheath cell chloroplasts) associated with the loss of RuBisCo complex formation, but accumulation of chloroplast-encoded RbcL transcripts associated with polysomes in both bundle sheath and mesophyll cells (PubMed:10330470). RbcL transcription is abnormally similar in both dark-grown and light-shifted seedlings (PubMed:10330470)
RNAi-mediated knockdown disrupts tail tip morphogenesis resulting in retention of the pointed larval tail tip in adult males (also known as the Lep phenotype) (PubMed:21408209). RNAi-mediated knockdown induces nuclear and mitochondrial transcription of mitochondrial protective genes including chaperone hsp-60 as part of the mitochondrial unfolded protein response (PubMed:25773600, PubMed:25274306, PubMed:22700657). RNAi-mediated knockdown causes nuclear accumulation of transcription factor atfs-1 in intestinal cells (PubMed:22700657). RNAi-mediated knockdown results in mitochondria in intestinal cells which are abnormally elongated (PubMed:25274306). RNAi-mediated knockdown reduces oxygen consumption (PubMed:25773600). RNAi-mediated knockdown also induces the transcription of innate immunity-related genes such as lys-2, abf-2, clec-65 and clec-4 which results in resistance to P.aeruginosa-mediated infection (PubMed:25274306). RNAi-mediated knockdown abolishes transcription up-regulation in an atfs-1 (tm4919) mutant background (PubMed:22700657, PubMed:25274306, PubMed:25773600)
Flies show low mating success and reduced copulation duration. Men and female genitalia often remain inside the body, and genitalia and analia are missing in some homozygous flies. These flies are named after the famous dolls who also lack these 'features'
Strong accumulation of precondylocarpine acetate
RNAi-mediated knockdown causes severe defects in the ALA neuron in young adults (PubMed:20501595). RNAi-mediated knockdown abolishes expression of helix-loop-helix protein mbr-1 in the interneuron DVC (PubMed:22207033)
Wavy growth phenotype with altered root hairs displaying multiple tips and branches (PubMed:18539780, PubMed:24400013). Reduced microtubules catastrophe frequency and growth rates (PubMed:25159991)
Three- to fivefold reduction in levels of ICN metabolites and accumulation of indole cyanogenic glycosides
Cells lacking this gene grow normally on aerobic oleate plates, but grow relatively poorly on oleate plus nitrate plates under anaerobic conditions. The double fadD fadK deletion mutant fails to grow on fatty acids under either aerobic or anaerobic conditions, although fadD mutants grow on fatty acids under anaerobic conditions
Uncoordinated and sterile with cell proliferation defects in germ and somatic cells. Hermaphrodite gonads have fewer cells with 13% of homozygotes having only one gonad arm. Most hermaphrodite mutants contain sperm but only 20% contain oocytes that develop as far as diakinesis and those that develop exhibit abnormal karyotypes. Mutant adults contain significantly fewer D neurons and seam cells than wild type. No poly-guanine tract deletions but double mutants of chl-1 and dog-1 display increased deletion frequency when compared to dog-1 mutants
Severe developmental retardation leading to plant death
Homozygous knockout flies show a semi-lethal phenotype and exhibit defective wing morphology at 100% penetrance (PubMed:18996366). Mutant embryos show striking guidance phenotypes in ventral oblique muscle 5 (VO5) and ventral oblique muscle 6 (VO6), characterized by bypass and mistargeting of the mutant muscles toward the ventral midline. Defects in targeting of the growing ventral tips of mutant muscles toward the ventral midline are already detectable at late stage 14/early stage 15 embryos. Defects in other ventral muscles are less obvious, although ventral acute muscle 3 (VA3) occasionally show mistargeting toward the ventral midline (PubMed:18996366). Defects in number and shape of subsets of muscles are also observed, but at low frequency (PubMed:18996366). Adult knockout flies show decreased central brain size and abnormal morphology of the mushroom body, the most common pattern being early termination of one alpha-lobe. The penetrance of the impaired mushroom body development is incomplete (PubMed:25792865)
RNAi-mediated knockdown causes formation of ectopic A/PVM-like neurons
Cells lacking this gene exhibit normal cell morphology and growth rate at 37 degrees Celsius, but cannot grow at high temperature
Accumulation of upstream metabolites, such as reticuline, but reduced production of morphine
According to PubMed:17405882 most mice die between embryonic day 15.5 and the perinatal stage. Those that survive are considerably smaller than their wild-type littermates and exhibit development abnormalities including a reduction in the number of fetal microvessels in the labyrinthine zone of the placenta. However, according to PubMed:18196599, pups are viable and grossly normal at birth. During early adulthood, however, mice fail to thrive and exhibit growth retardation, bodyweight loss, enlargement of airspaces in the lung and, in some cases, lethality
Completely abolishes the production of novofumigatonin, but accumulates asnovolin J
Knockout mice are deficient in CD8-positive T cells due to increased apoptosis. This is associated with a reduction of naive to memory T cells ratio in blood and peripheral lymphoid organs
defects in axonemal inner-arm dynein
Embryonic lethal due to defects in dorsal closure
Increase in unprocessed AGRP
Normal vegetative growth and fertility. Slightly enhanced sensitivity to X-rays, leading to a slight root growth reduction after 100-Gy dose of X-ray irradiation. Delayed germination of seeds, especially upon cold and oxidative stress (e.g. by menadione, a genotoxic agent), and reduced seed longevity and storability. Increased DNA damage response in germinating seeds, probably due to accumulation of DNA damage in seeds (PubMed:20584150). Increased stable root transformation susceptibility by A.tumefaciens A208 T-DNA (PubMed:25641249)
Mice lacking Rnf152 do not show overt embryonic development defect
Premature cell death in several organs, chlorotic and curly leaves, semidwarfism, distorted siliques, premature senescence of primary inflorescences, reduced fertility and decrease in total lipid content
Loss of mcm5U (5-methoxycarbonylmethyl uridine) and ncm5U (5-carbamoylmethyl uridine) from tRNA
Mid-gestation lethality due to severe developmental delay such as vascular abnormalities in the embryo and placenta, reduced cellular proliferation and increased apoptosis (PubMed:27864380). Defects are probably due to a widespread impairment in the regulation of gene expression (PubMed:27864380). Setd5-haploinsufficient mice display altered neuronal network connectivity leading to autistic-like behaviors (PubMed:30655503, PubMed:30455454, PubMed:31515109). Haploinsufficient Setd5 cortical neurons show reduced synaptic density and neuritic outgrowtho, with corresponding decreases in network activity and synchrony by electrophysiology (PubMed:30655503). Haploinsufficient mice display several autism-like behaviors, including hyperactivity, cognitive deficit, and altered social interactions (PubMed:30455454, PubMed:31515109, PubMed:30655503)
Has low impact on expression of the sorbicillin biosynthesis gene cluster but, except for very low levels of dihydrosorbicillinol, impairs the production of sorbicillinoids (PubMed:28618182)
Disruption of the gene leads to almost full resistance to trifluoromethylthioribose (3FMTR), a toxic analog of MTR
Abolishes the production of arthrobotrisins A to D and asthrosporol A, and leads to the accumulation of 6-methylsalicylic acid, toluquinol and two new toluquinol glycosides (PubMed:28692300, PubMed:33823587). Shows substantial reduction in conidiation (PubMed:33823587). Shows significantly increased ammonia levels in fungal mycelia (PubMed:33823587)
Disruption of the gene reduces the expression of PE13 and PPE18. It allows mice to survive for significant longer, with substantially reduced lung pathology
FimA-deficient cells lack major fimbriae, resulting in strongly decreased adherence to host cells (PubMed:12593606, PubMed:17675496). Double mutants lacking both FimA and Mfa1 lack major and minor fimbriae; they fail to adhere to host cells
Decreased growth on 1,2-PD cyanocobalamin medium; no growth is seen in a double cobA-pduO deletion
Results in the cytoplasmic accumulation of the master regulator of mitochondrial biogenesis, Ppargc1a, and a reduction in known Ppargc1a target genes, which leads to an abnormal mitochondrial phenotype in the brain tissue
Leads to decreased adherence of germ tubes to plastic and epithelial cells, but not endothelial cells
Knockout mice show severe autoimmune phenotypes, with lymphocyte infiltration of multiple organs and hyperplasia in lymph nodes by 10 weeks of age
Sterile plants with abnormal formation of polyads during microsporogenesis, tetrads with more than four pools of chromosomes, after male meiosis, due to an unusual and abnormal cell division without further DNA or chromosome replication after meiosis I and II, and leading to collapsed pollen in flattened anthers (PubMed:9750346, Ref.2). Chromatin recondensation and stretching after meiosis II characterized by a dense microtubule network connecting haploid nuclei in the tetrad stage rearranged into four bipolar spindles as chromatids recondense, as if haploid nuclei entered a third meiotic division (PubMed:9451956, PubMed:21119056)
Mice laking Sfrp4 have increased trabecular bone, reduced cortical-bone thickness, and failure of bone modeling during growth, resulting in wider bones with thinner and mechanically inadequate cortexes
Decreased expression of T3SS genes and effectors. Loss of cytoxicity against human lung cell line A549, avirulent in a mouse infection model. Down-regulation of flagellar genes and up-regulation of T6SS structural genes and effectors, increased biofilm formation (PubMed:24169572). Grows less quickly at 37 degrees Celsius. Decreased susceptibility to antibiotics neomycin, streptomycin, gentamycin, spectinomycin, ciprofloxacin and ofloxacin. Increased ribosome stalling on leader peptide PA5471.1 mRNA, leads to increased expression of PA5471 and up-regulation of the MexXY efflux system (PubMed:26179141)
Retarded vegetative growth, delayed flowering and short and thick inflorescence stems and siliques
Plants show abnormal leaves altered in shape and curling
RNAi-mediated knockdown in lip-1 and puf-8 double mutant causes a decrease in number of germline tumors and restores normal microtubule organization in spermatocytes
Hypoglycosylation phenotype
Leads to a size reduction of glycans resistant to alpha-mannosidase treatment
Increased competence for naked plasmid transformation, increased levels of plasmid DNA (PubMed:24531762, PubMed:25331432). No substantial change in gene expression (PubMed:24531762, PubMed:25902012). No effect on natural cell-to-cell conjugation (PubMed:25331432). Wild-type cells outcompete deletion strains by nearly 2-fold after 12 days in rich medium. Increased sensitivity to gyrase inhibitor ciprofloxacin, increased adundance of ter-mapping DNA in immunoprecipitated TtAgo, cells are longer than wild-type and form filaments with thin DNA filaments between cells upon ciprofloxacin (a GyrA inhibitor) treatment (PubMed:32846159)
Increased cell elongation in hypocotyls and roots from seedlings grown in the dark
Sensory defects and loss of the axonemal dynein arms. Flies display defective proprioception as a result of malfunctioning Ch neurons caused by inner and outer dynein arms (IDA and ODA, respectively) defects. Males sterility due to immotile sperm
Morpholino knockdown in embryos 6 hours post-fertilization (hpf) results in reduced caspa and caspb activation following bacterial infection with E.tarda
Cannot use 4-coumarate for ubiquinone biosynthesis
No visible phenotype under normal growth conditions (PubMed:20202164). Abnormal accumulation of reactive oxygen species (ROS) (PubMed:30712008). Hypermethylation of histone H3 'Lys-4' (H3K4me3) (PubMed:30712008, PubMed:32572214). Enhanced expression of genes involved in leaf senescence (e.g. WRKY53 and SAG201) associated with H3K4me3 leading to an early leaf senescence phenotype (PubMed:30712008, PubMed:32572214). Partial sterility with abnormally short siliques and dead pollen grains leading to silique abortion (PubMed:30712008, PubMed:32572214). Male meiocytes are defective in meiotic chromosome condensation (PubMed:32572214). Slightly early flowering (PubMed:30712008). Increased H3K9me3 levels specifically in male meiocytes leading to greater number of down-regulated than up-regulated genes (PubMed:32572214). The double mutant jmj17-1 jmj16-1 has an early flowering phenotype (especially in long day conditions) (PubMed:31038749)
Hypersensitivity to a cross-linking agent
Morpholino knockdown of the protein display decreased eye size and formation of smaller mitochondria in cone ellipsoid photoreceptor cells
Deletion of the gene abolishes the modifications and effects on mono-ubiquitin and polyubiquitin chains (PubMed:32330457). It reduces bacterial survival in mouse livers 5-fold at 3 days postinfection and dramatically reduces bacterial survival 100-fold at 6 days postinfection (PubMed:32330457)
Morpholino knockdown of the protein affects brain and neuromuscular development. Morphant embryos have small heads, small or absent eyes, truncated bodies, and reduced and damaged myofibers. Motor axons fail to migrate properly to the neuromuscular junctions. The brain has abnormal morphology, the cerebellum and hindbrain are absent
When combined with mutations in HUA1 and HUA2, reduced stem elongation and alterations in production of flowers along the inflorescence. These flowers are characterized by the presence of third whorl sepal-petal-stamens and fourth whorl sepal-carpels leading to abnormal floral organ number and positioning. Over-accumulation of non-coding nuclear exososome targets (PubMed:25144737)
Disruption of the gene reduces transformation rates by two orders of magnitude. Natural transformation is undetectable in the pilB-tfpB double mutant. The tfpB-pilT mutant makes very few T4P. The pilB-tfpB-pilT triple mutant produces no detectable T4P fibers
IpdAB double deletion mutant does not grow on cholesterol, but grows as the wild-type on glycerol. In the presence of cholesterol, ipdAB double deletion mutant accumulates COCHEA-CoA. Double mutant does not survive in macrophages and displays severely depleted CoASH levels that correlate with a cholesterol-dependent toxicity
Exencephaly and skeletal abnormalities in the rib cage and cervical vertebrae but no presphenoid bone or cranial nerve defects. DEAF1 homozygous mice neonates die 100% of the time and DEAF1 heterozygous mice survived in a 2:1 ratio
No visible phenotype when grown under normal conditions, due to redundancy with MCA1. The roots are able to normally sense the hardness of the growth medium. Mca1 and mca2 double mutant shows a strong growth defect
Deletion of most of the operon (hyfBCDEFGHIJR) has no visible effect under fermentative growth conditions at pH 6.5 or 7.5, during aerobic or anaerobic glucose-limited growth at pH 6.5, or when combined with hyc mutations
Delayed seed germination, reduced seed germination potential and increased sensitivity to abscisic acid (ABA) during germination
No visible phenotype under normal growth conditions, but mutant plants have reduced lignin content and increased sugar extractability. Mutant plants show enhanced susceptibility to the bacterial blight pathogen Xanthomomas oryzae pv. oryzae (Xoo)
Not essential; grows to a higher density in stationary phase and a slight increase in susceptibility to rifamycin antibiotics. No effect on short-term intracellular survival and proliferation in human monocytes in vitro. BALB/c mice infected with mutant bacteria survived significantly longer (median survival 264 days versus 161 days for wild-type) and lost significantly less weight (PubMed:10992456). The CDC 1551 disruption in BALB/c and outbred Swiss-Webster mice showed smaller and fewer lesions and less inflammation in the lungs and spleen, and gave rabbits some degree of protection against subsequent M.bovis infection (PubMed:14977982)
Cells grow normally in both axenic medium and with bacteria. Under starvation conditions, mutants lacking gskA aggregate more quickly and form smaller mounds than wild type, fail to form slugs and take longer than wild type to reach culmination. At culmination, mutants lacking gskA form abnormal fruiting bodies characterized by an unusually large mound-like basal disk. Prestalk B (pstB) cells are formed at the expense of prespore cells, and the proportion of gskA null cells that differentiate into spores is greatly reduced when compared to wild-type cells
No effect on germination. Boi, brg1, brg2 and brg3 quadruple mutant shows a higher GA signaling resulting in a higher seed germination in the presence of paclobutrazol, precocious juvenile-to-adult phase transition and early flowering
Accumulates DPCs and exhibits gross chromosomal rearrangements
Displays higher growth rate and higher sensitivity to superoxide and heat stress, on nonfermentable carbon sources. Leads to decreased intracellular oxidation upon heat shock. Under conditions of mitochondrial perturbation by antimycin A, displays increased peroxisomal proliferation
Viable, however adults display a decrease in survival which is stronger in females than males, and both sexes display a decrease in fertility (PubMed:32750047). Loss of phosphorylation of histone H3 leading to reduced centromeric cohesion (PubMed:32750047). RNAi-mediated knockdown reduces the size of salivary gland nuclei (PubMed:32750047). Also results in a strong decrease in chromosome-bound pds5 in larval salivary glands and a significant decrease in chromatin-bound vtd in mitotic and interphase embryo cells (PubMed:32750047)
Greatly increases spontaneous and hydrogen peroxide-induced mutation frequency
A double vgrGA-vgrGB deletion inhibits the ability of RhsB to inhibits cell growth
No detectable dimeric PSII, loss of another protein that may be PsbM
RNAi-mediated knockdown causes an approximately 65% decrease in S-adenosylmethionine (SAM) levels, with similar decreases in S-adenosylhomocysteine (SAH), the product of SAM-dependent methyltransferase reactions (PubMed:22035958). Increased levels of lipids, including triacylglycerols (PubMed:22035958). Increased nuclear localization of transcription factor sbp-1 and increased expression of known target genes of sbp-1, such as the fatty-acid desaturases fat-5, fat-6 and fat-7 (PubMed:22035958)
Defects in female gametophyte development. Arrested during endosperm development
RNAi-mediated knockdown causes embryonic lethality in 5 percent of the progeny
Lethality during embryogenesis: embryos develop normally to 7.5 days post coitum (dpc), but growth is severely retarded by 8.5 dpc and embryos fail to form dorsal mesoderm lineages, including chordamesoderm and paraxial mesoderm (PubMed:11017084). Differentiation of extra-embryonic and cardiac mesoderm is not affected (PubMed:11017084). Loss of the dorsal mesoderm lineages is due to an increased apoptosis (PubMed:11017084). Conditional knockout mice lacking Kat2a in the excitatory neurons of the adult forebrain display impaired hippocampus-dependent memory consolidation as well as impaired synaptic and nuclear plasticity (PubMed:25024434). Conditional knockout mice lacking Kat2a in T lymphocytes show defects in T-cell activation, T-cell proliferation, IL2 production and Th1/Th17 regulatory T-cell differentiation (PubMed:28424240). Th2 regulatory T-cell differentiation is not affected (PubMed:28424240)
RNAi-mediated knockdown increases short term memory retention in response to repeated exposure to diacetyl, a chemical repellent
Confers low-level streptomycin resistance. Seems to be an important cause of resistance in resistant M.tuberculosis isolates
Non-photosynthetic phenotype due to the absence of photosystem I (PSI). Can grow only in vitro on sterile sucrose-containing medium. Under normal light conditions, mutant plants show severe pigment deficiency and leaf bleaching due to the accumulation of photooxidative damage. Under low light conditions, mutant plants show a light-green phenotype, very slow growth and delayed development
Embryonic and perinatal lethality with incomplete penetrance. At 17.5 dpc, 50% of the expected Mendelian rate with only 3.4% of the expected number living past 21 days after birth. The few survivors to adulthood fail to thrive and their weight is half compared to the wild-type. At 3 weeks old, kidney hypoplasia and an altered medullary morphology are observed with an increased apoptosis in the kidney inner medulla. Under osmotic stress, the transcriptional regulation of osmoprotective genes is altered in the kidney medulla
Abolishes completely the production of macrophorin A, 4'-oxomacrophorin A, 4'-oxomacrophorin D and 4'-oxomacrophorin E; and leads to the accumulation of yanuthone E, 7-deacetoxyyanuthone A, and 22-deacetylyanuthone A
Severely disrupts assembly and function of T2SS-beta, mislocalization of GspD-beta to the cell inner membrane
Cells lacking this gene have no growth defect in media containing different nitrogen sources. Total glutamine synthetase (GS) activity in culture filtrates is markedly reduced in the mutant, although activity in cell-free extracts remains normal. Virulence is unaffected in both in vitro and in vivo model systems of infection
Faster exit from L1 arrest and IIS-dependent dauer diapause
No visible phenotype when deleted in strains CCUG 37602 / M1080 / Serogroup B / Serotype 1 and 8765 / Serotype 15
Growth and pigmentation defects associated with global transcriptomic changes and accumulation of RNA quality control siRNAs
Impairs the production of griseofulvin, but accumulates the intermediates dehydrogriseofulvin and dechloro-dehydrogriseofulvi (PubMed:23978092)
Seedling lethality. Mutant plants can grow on synthetic medium supplied with thiamine
Mutant lacking this gene is completely avirulent in mice but has no detectable growth defect in nutrient-rich media (PubMed:35316134). Deletion mutant shows only a slight defect in growth in media containing riboflavin, but does not replicate in chemically defined media with FMN or FAD (PubMed:35316134)
Both male and female mice are sterile. Males do not make sperm and have much smaller testes, a characteristic of mutants with meiotic defects. Early stages of meiosis occur normally and full synapsis of homologous chromosomes (homologs) is achieved. However, crossover-specific recombination complexes do not assemble and crossing-overs fail. In spermatocytes, chromosomes fail to congress properly at the metaphase plate, leading to arrest and apoptosis before the first meiotic division. Mutant oocytes have a similar chromosomal phenotype but can undergo meiotic divisions and fertilization before arresting. During late meiotic prophase males, absence of Cdk2 and mismatch repair protein association from chromosome cores is correlated with the premature separation of bivalents at diplonema owing to lack of chiasmata
Mice die shortly after birth. Mice show an abnormal placental development; the spongiotrophoblast layer is irregular in shape and enlarged while the labyrinthine layer is reduced in size, the blood spaces within the labyrinthine are disrupted. Produces more mineralized bone nodules and deposited twice as much calcium in the matrix
Inactivation of this gene leads to an approximately 90% decrease in the total cell wall hydrolytic activity of stationary-phase cells and extraordinary resistance to cell lysis, even after 6 days of incubation at 37 degrees Celsius. Cells from domesticated laboratory strains lacking this gene show no motility changes on swarm plates; however in combination with an acetylglucosaminidase deletion (lytD, AC P39848) greatly reduced motility is seen. They also show no apparent changes in cell morphology, competence, sporulation, or germination. Cells from an undomesticated strain (3610) lacking this gene show a reduction in the rate of swarming motility
Aborted seed development (PubMed:22991160). Embryos arrested at the globular to heart stage transition and defective endosperm development with multi-nucleolated endosperm cells (PubMed:22991160)
About 20% increase in T4 progeny; the phenotype is the same in a double abpA-abpB deletion
Malformed organs, including twisted roots and shoots at the seedling stage, mainly caused by asymmetrical expansion of cells on the opposite sides of an organ. Increased dynamic actin cytoskeleton network. Hypersensitive gravitropic response, faster recycling of PIN2, and altered auxin distribution
Essential, it cannot be deleted unless additional mutations in rpoS and/or phoP are present; hns-rpoS or hns-phoP mutants grow slowly while triple mutants grow like wild-type. In a double hns-rpoS mutant 178 genes are down-regulated while 409/4529 were up-regulated compared to wild-type
Loss of expression of the adhA-yraA operon in response to formaldehyde and methylgloxal
Deletion alters the pattern of protein synthesis during both exponential growth and carbon starvation (PubMed:9642082). No longer alters host cytoskeleton; upon infection of HeLa cells microvilli are not disrupted (although some thicken), bacteria adhere to host cells but actin does not accumulate beneath them. 100-fold increased sensitivity of bacteria to human BPI. Increased bacterial cell motililty, increased secretion of flagellin gene (fliC) (PubMed:9622352). Decreased accumulation in infected HeLa cells of a phosphotyrosine protein that might be bacterial Tir, enhanced Ca(2+) efflux from infected HeLa cells (PubMed:9765944)
Early flowering (especially in long day conditions), but normal development of all organs (PubMed:31038749). Partially redundant with ELF6. Increased H3K4 methylation on specific genes, thus leading to their derepression (PubMed:25578968, PubMed:31826870). Slightly increased levels of CCA1 and LHY circadian oscillators transcription factors as well as of other clock genes such as TOC1, PRR5, PRR7, PRR9, GI, ELF3, ELF4, and LUX associated with higher H3K4me3 levels near their promoters (PubMed:31429787). Impaired systemic RDR6-dependent post-transcriptional transgene silencing (PTGS) associated with reduced production of aberrant RNAs (e.g. uncapped and antisense) (PubMed:33986281). Abnormal root meristem size as well as partial suppression of reduced root meristem size and growth vigor observed in brx mutants (PubMed:31826870). Compromised in both local and systemic defense responses to the bacterial pathogen Pseudomonas syringae Pst DC3000 avrRpt2 due to abnormal H3K4me3 enrichment and reduced expression of defense genes involved in salicylic acid (SA)- and pipecolic acid (Pip)-mediated defense pathways (e.g. PR1, FMO1, ALD1 and SARD4) (PubMed:31622519). The double mutant jmj17-1 jmj14-1 has an early flowering phenotype (especially in long day conditions) (PubMed:31038749). The triple mutant jmj17-1 jmj14-1 jmj16-1 flowers even earlier (PubMed:31038749)
Loss of function mutant is defective in the regulation of F-actin organization
Extreme defects in morphogenesis, positioning of mitotic planes and cellular organization due to dysfunction of the cortical cytoskeleton and absence of the preprophase band of microtubules. In the ton1 insertional mutant, the two highly similar genes in tandem, TON1A and TON1B are simultaneously disrupted
RNAi-mediated knockdown results in decreased cell size likely as a result of its role in the synthesis of ribosomal RNA precursors
Mice show a massive germline loss and infertility in both males and females (PubMed:30746471, PubMed:30949703). Defects in meiotic prophase progression and meiotic recombination seen in spermatocytes and oocytes (PubMed:30746471). Meiocytes fail to achieve complete synapsis and show repair of double-strand breaks without formation of crossovers (PubMed:30746471)
Reduces filamentous growth and virulence (PubMed:15643068). Disturbs polar growth of filaments (PubMed:17105762, PubMed:25985087)
Impaired meiosis, leading to maternal mutants with eggshell defects (PubMed:9362456, PubMed:16888338). Mutant females produce ventralized egg shells, with phenotypes ranging from fused dorsal appendages to fully ventralized eggs with no dorsal appendages (PubMed:16888338). Mutant flies are hypersensitive to chemical mutagens (PubMed:16888338)
Hypersensitivity to salt (NaCl) stress during seed germination and during seedling growth and development. Hypersensitivity to hydrogen peroxide H(2)O(2) and methyl viologen (MV)
Deletion of this gene does not affect growth in nitrate-containing medium under normal photorespiratory conditions. However, the mutant is unable to grow diazotrophically, caused by its inability to protect nitrogenase from O2 inhibition
Mutants show a slight growth defect, but do not show increased sensitivity to ionizing radiation or alkylating agents. Show decreased rates of survival after UV-C irradiation. Display extensive delay in the repair of DNA double-strand breaks
Late flowering under short day (SD) conditions
Mutant is deficient for transport of inosine, guanosine or adenosine
Leads to the production of pneumocandin analogs with non-hydroxylated ornithine (PubMed:25879325)
Leads to pink mycelia in young cultures which turn red in older cultures, suggesting a delayed production of aurofusarin (PubMed:21296881)
Enhanced ethylene response, but altered salt response during seed germination and plant growth leading to an increased tolerance to salt stress (PubMed:21631530). Increased susceptibility to dark and starvation, and to treatment with the TOR inhibitor (PubMed:29084871). Decreased translation activity associated with altered ribosome patterns, especially in the dark and starvation conditions, in which mRNAs distribution is altered and rRNA abnormally degraded (PubMed:29084871). Slightly early flowering time under long-day conditions (PubMed:29084871)
Mutant mice die in the late stages of gestation, exhibiting edema and severe embryonic hemorrhage
Mutant cells are unable to sporulate in isolation although they will sporulate when in the presence of wild-type cells. Cells form loose aggregates before disaggregating. After starvation, cells form wide streams that frequently break and form secondary centers before reaching the primary center and display cAMP relay defects. Cells fail to rotate. tgrB1 and tgrC1 double mutants show strain segregation in chimeras with wild-type cells. ComC, tgrC1 and tgrD1 triple mutants fail to form spores
Mice have craniofacial abnormalities as well as a cleft palate. They are smaller than heterozygous littermates, unable to feed and die within 24 hours of birth
RNAi-mediated knockdown causes no defect in the growth of the bloodstream stage form (PubMed:16507595). Knockout has no defect in the growth of the procyclic form (PubMed:16507595). Simultaneous RNAi-mediated knockdown of MCA2, MCA3 and MCA5 in the bloodstream stage form causes a growth arrest resulting from a block prior to cytokinesis; DNA replication and mitosis are normal (PubMed:16507595). Has no effect on VSG protein recycling (PubMed:16507595). Triple knockout of MCA2, MCA3 and MCA5 in the bloodstream form causes an initial slower growth rate in vitro which reaches wild-type levels after several weeks of culture (PubMed:16507595). Triple knockouts have a normal growth rate and virulence in infected mice (PubMed:16507595)
RNAi-mediated knockdown increases ethanol sedation sensitivity when first exposed to ethanol and decreases ethanol tolerance following repeated ethanol exposure
Worms exhibit olfactory imprinting to benzaldehyde and isoamylalcohol
No visible phenotype when grown under normal light conditions; due to redundancy with BCH2. Bch1 and bch2 double mutant has no visible phenotype but lower levels of beta, beta-xanthophylls and increased beta-carotene and lutein. Cyp97c1, bch1 and bch2 triple mutant is paler and smaller than wild-type
Deletions mutants are defective in the secretion of EsxA, EsxB, EsxC and EsxD
Loss of bacterial-mediated red blood cell hemagglutination, no bacterial adhesion to glycoconjugates with alpha-2-3 sialic acid termini (PubMed:11854202). No longer aggregates human platelets (PubMed:15213130). Bacteria no longer bind human fetuin. Bacteria bind less well to human platelets. Triple sspA-sspB-hsa deletion no longer causes human platelet aggregation; a single hsa deletion aggregates platelets normally. Significantly reduced binding to human glycocalicin (GP1BA, the shed form of platelet glycoprotein Ib alpha) (PubMed:19884334). No change in platelet spreading on S.gordonii (PubMed:21071690). Single mutant no longer binds to vitronectin (VTN) and fibronectin (FN1), slightly less well to salivary pellicle and makes less biofilm on salivary pellicle. Double hsa-padA deletions bind less well to human platelets than does the single padA deletion and make no biofilm on salivary pellicle (PubMed:27616700)
Null mice with induced pancreatic ductal adenocarcinomas (PDACs) exhibit attenuated pancreatic tumor growth and invasiveness, decreased cancer cell proliferation and mitogen-activated protein kinase activation. Pancreatic cancer cells isolated from the tumors of GPC1 (-/-) mice were not as invasive in response to fibroblast growth factor-2 (FGF-2) as cancer cells isolated from wild-type mice
Loss of glycosylation of the ComP protein
Cells lacking this gene are able to grow with D-glucosaminate as the sole carbon source, although the growth rate is significantly lower
Little visible phenotype, except up-regulation of nblA, a phycobilisome degradation protein (PubMed:10894737). A double rppA-rppB (nrsR-nrsS) deletion is less tolerant to growth on Ni(2+), no longer expresses nrsB (slr0793, involved in Ni(2+) resistance) in response to Ni(2+). Loss of expression of this operon. There are no growth effects, no changes in pigment concentration, no changes in PSII or nblA transcript levels seen in the double mutant (PubMed:11849552)
No visible phenotype: mice are viable, fertile and do not developmental or homeostatic phenotype in the absence of overt stress (PubMed:23835476, PubMed:24012422). However, these mice are resistant to TNF-induced necroptosis (PubMed:23835476, PubMed:24012422). At a modestly lethal dose of influenza A virus (IAV), mice do not display increased rates of mortality (PubMed:27321907, PubMed:32200799). Perinatal lethality observed in Ripk1 knockout mice is rescued in knockout mice lacking both Ripk1 and Mlkl (PubMed:27819681)
Does not impede neurosporaxanthin biosynthesis and shows a significant increase in the total carotenoid content (PubMed:16049681). Leads to increased expression of carAR and carO, but not carB (PubMed:16049681)
Loss of D-alanylgriseoluteic acid resistance
Lethal when homozygous. In hemizygous plants, male-specific transmission defect
Flies survive to adulthood. Mutant males are fertile, but mutant females are sterile due to defects in ovulation
No aldehyde-stress related phenotype; when combined with a yfkM disruption shows significantly reduced growth in the presence of formaldehye and methylglyoxal
Impaired in beta-aminobutyric acid (BABA)-induced sterility. Altered BABA-induced resistance (BABA-IR) against bacteria (e.g. P.syringae) and oomycetes (e.g. H.parasitica) associated with reduction in priming for salicylate (SA)-dependent defense responses (e.g. trailing necrosis and pathogenesis-related PR-1 gene expression) (PubMed:15722464, PubMed:22209872). Reduced primed to be primed phenotype in transgenerationally primed plants exposed to a second BABA-priming (PubMed:22209872)
Male mice are infertile, while females do not show defects. Male mice display defects in histone H2A and H2B ubiquitination in testis cells. While meiotic sex chromosome inactivation in the XY body prior to meiosis is not affected, H4K16ac is decreased, leading to defects in the replacement of histones by protamines during spermiogenesis. Mice lacking both Rnf8 and Chfr develop thymic lymphomas and chromosomes are frequently altered, due to defects in DNA damage response and defects in damage-induced activation of ATM kinase
Auxotroph for uracil and resistant to 5-FOA (5-fluoroorotic acid)
Derepresses siderophore biosynthesis in high iron concentrations (PubMed:9790585)
Altered modification (probably glycosylation) of Srr2
No morphological abnormalities. Knockout mice are viable and fertile. However, the terminal of bipolar cells do not appose to the synapse terminals in the rod photoreceptor ribbon synapses. The signal transmission from the rod photoreceptor to the rod bipolar cells is less sensitive and is delayed compared to the wild type mouse. The signal transmission from cone photoreceptors to the cone bipolar cells is also impaired. These mice show reduced visual function
Embryonic lethal or lethal at the first larval stage of development (PubMed:9043090). Embryos exhibit severe morphological defects (PubMed:9043090). RNAi-mediated knockdown results in embryonic lethality in 88% of animals (PubMed:19361491, PubMed:26015579). Knockdown also results in disrupted P granule organization and assembly in the early embryo (PubMed:26015579). Reduced survival in response to heat and oxidative stress (PubMed:24844228). Double RNAi knockdown with vbh-1 results in a high number of female offspring (PubMed:19361491)
Impaired trafficking and endocytic recycling of ABCG36/PEN3 between the trans-Golgi network and the plasma membrane in root epidermal and cap cells
Mutant mice die within 24 hours after birth. Most mice show bilateral kidney agenesis. The development of other organs seems normal. Ureteric bud attraction is impaired after 11.0 dpc. The ureteric buds are attracted close to the mesenchyme but fail to invade and branch into the mesenchyme and the kidney disappears by 14.5 dpc. The mesenchymal cells undergo apoptotic cell death at 12.5 dpc. ITGA8 is reduced at the ureteric bud/mesenchyme junction and does not exhibit basolateral localization. GDNF is not properly maintained in the mesenchyme at 11.5 dpc
No visible phenotype when grown under normal conditions; due to partial redundancy with MCA2. The roots are unable to sense a change in the hardness of the growth medium. Mca1 and mca2 double mutant shows a strong growth defect
Disruption of the gene maintains the ability of the strain to produce the pyoverdine siderophore (PubMed:18689486, PubMed:18824174). Disruption mutant cannot produce paerucumarin (PubMed:18689486)
RNAi-mediated knockdown results in 8% early larval lethality of the progeny. Surviving animals display slow growth, thin body morphology and both spermatogenesis and oogenesis are arrested at the pachytene stage of meiosis I. In addition, males have short and crumpled spicules. RNAi-mediated knockdown prevents multi-vulva induction in let60 n1046, let-23 sa62 or lin-15 n765 mutants and fluid accumulation in clr-1 e1745ts mutant
Reduced lifespan when diet is restricted, and in the presence of the oxidative stress inducer paraquat (PubMed:19783783). Increased pha-4 and cup-4 expression when diet is restricted (PubMed:19783783). RNAi-mediated knockdown reduces lifespan and resistance to the oxidative stress inducer paraquat (PubMed:19627265, PubMed:19783783). RNAi-mediated knockdown in an eat-2 mutant background rescues lifespan, but lifespan remains greater than in wild-type (PubMed:19783783)
Death before 7.5 dpc probably at the peri-implantation stage. Blastocysts display defects in mitotic progression and chromosomal segregation and increased apoptosis
Snca-deficient mice are viable and fertile, possess intact brain architecture but exhibit decreased striatal dopamin content and amphetamine sensitivity (PubMed:10707987). Simultaneous knockout of SNCA, SNCB and SNCG exhibit an age-dependent decrease in SNARE-complex assembly. Thus, synucleins are required for maintaining normal SNARE-complex assembly during aging in mice (PubMed:20798282)
Mutant is unable to grow on nitrate, but grows normally with nitrite or ammonium as the nitrogen source
Reduced formation of biofilm
Impairs hypha formation. Protects the fungus against leukocyte killing in vitro and in vivo, impedes the innate immune response to the infection, and increases fungal virulence and organ invasion in vivo
No discernible phenotype in normal conditions (PubMed:16942608, PubMed:21199889, PubMed:27956469). Altered mannitol (drought)-promoted stomatal closure (PubMed:27956469). Enhanced susceptibility to the bacterial pathogen P.syringae pv. maculicola and abnormal papilla formation, with an unusual wide halo made of vesicle-like structures upon inoculation by the fungal pathogen B.graminis hordei (PubMed:21199889). Reduced sensitivity to pathogen-associated molecular patterns (PAMPs) (e.g. bacterial elicitor flg22, bacterial transcription factor elf18, Pep1 and fungal chitin) leading to a reduced production of reactive oxygen species (ROS) and impaired induction of several plant defense genes. Increased disease susceptibility to the biotrophic oomycete H.arabidopsidis (PubMed:23170036)
Embryo sac development arrest. Unfused polar nuclei (PubMed:15634699). Pollen tube growth defective (PubMed:19237690)
Impaired behavior and decreased reproductive performance, probably due to loss of pheromone sensing. Ants show strongly decreased sensitivity to various pure semiochemicals delivered in puffs of air, and display increased levels of wandering outside of the nest. In a solitary environment, homozygous mutants also display an abnormal antennal twitching behavior: they quickly move their antennae, similar to the quick antennal movement observed during dueling among workers in the transition to gamergates. Mating and reproduction are impaired: worker dueling and the transition to gamergates in the absence of a reproductive queen or gamergates. Ants also display gross neuroanatomical defects in the antennal lobe, with a dramatic decrease in the number of odorant receptor neurons and antennal lobe glomeruli
No effect on the association with 60S pre-ribosomes, but altered rRNA processing and accumulation of 18S rRNA precursors (PubMed:25319368). Embryo and leaf developmental defects (PubMed:25319368). Severe delay in development of the first true rosette leaves and frequent fused or triple cotyledons (PubMed:25319368). Lsg1-1 and lsg1-2 double mutants are lethal, when homozygous (PubMed:25319368)
Embryonic lethality due to embryos with disorganized epidermal cells, which cause morphological and elongation defects (PubMed:15659483). The seam cells in these embryos abnormally fuse to the syncytial hypodermis during embryonic elongation and ectopically express eff-1 (PubMed:15659483). RNAi-mediated knockdown results in embryonic lethality and embryos exhibit seam cell differentiation defects as indicated by a decrease in expression of early seam cell proteins including elt-5, nhr-73 and nhr-74 (PubMed:15659483)
RNAi-mediated knockdown causes arrested development at 90-100 cells and inhibits differentiation (PubMed:12458202). The two E cell daughters (E2 cells), which form the endoderm, divide abnormally early (PubMed:12458202). Phosphorylation of the RNA Pol II large subunit C-terminal domain (CTD) is reduced significantly in embryos (PubMed:12458202). Reduces expression of a range of genes, including let-858, rps-5, hsp16.2, and pes-10, but has little or no effect on expression of cki-2 and sur-5 (PubMed:12458202). Has little or no effect on levels of the TFIID subunits taf-10 and taf-4 (PubMed:12458202)
Hypersensitive to alkaline pH (greater than pH 8.8) (PubMed:9473036). Increased accumulation and toxicity of overexpressed, misfolded periplasmic proteins (PubMed:16303867)
Plastids lose the ability to perform translation and lack plastid ribosomes
PTPN4-deficient mice are born at normal Mendelian ratio with no apparent developmental or phenotypic defects. They display normal cytokine production and T-cell effector functions (PubMed:18614237). However, they show impairment in motor learning and cerebellar long-term depression (PubMed:17953619)
Inactivation of the gene results in constitutive expression of genes of the polygalacturonate degradative pathway (pelA, pelD, pelE, ogl, kdul, kduD, kdgT, kdgK and kdgA)
Accumulates diphthine, the last intermediate in the diphthamide biosynthesis pathway. Increases the interaction of DPH5 with elongation factor 2
Leads to a reduction of protease activity and a decreased virulence in a G.mellonella infection model
No visible phenotype; due to the redundancy with PGRL1A. Pgrl1a and pgrl1b double mutant grows slowly and has pale green leaves
Leads to attenuated virulence and defective hyphal extension in a mouse model of systemic candidiasis
Hypersensitivity to glucose and sucrose. Enhanced sensitivity of plants to stress and to growth hormones including cytokinin, ethylene, abscisic acid, and auxin. Accumulation of sugars and starch in leaves, and root elongation. Cell elongation defects. Enhanced susceptibility to virulent and avirulent pathogens
Impairs the production of ascochlorin and ascofuranone, and leads to the accumulation of ilicicolin A
Mutants are sensitive to DNA-damaging agents
Produces much less cellulose, and the timing cellulose synthesis and structure of the fibers may be altered. Deletion can be complemented by the protein from S.typhimurium LT2 or E.coli, however the 'D-415' mutation in the E.coli protein does not complement (PubMed:24942809)
Decreases the association of SIR2 with NTS1, decreases rDNA stability and shortens replicative lifespan
No visible phenotype, but causes subtle changes in the central nervous system. Mice exhibit altered apical dendrite spine morphology in pyramidal neurons. Mice exhibit defasciculation of the facial branchiomotor nerve and of the ophthalmic branch of the trigeminus, with variable severity. The number of neurons in the dorsal root ganglion is higher than normal, probably due to reduced neuronal apoptosis. In mice lacking both Plxna3 and Plxna4, migrating neurons do not show the normal response to Sema3A and Sema3F and do not migrate away from these semaphorins (in vitro)
Flies show multiple mitotic defects, including multipolar spindles that result in large polyploid cells and often in delayed apoptosis. The developmental consequences of these defects include cell-autonomous and non-autonomous defects in cell-type specification and tissue architecture. Flies also display a drastic decrease in histone H3 'Ser-10' phosphorylation, suggesting that the CPC complex mediates phosphorylation of 'Ser-10' of histone H3
Defective in stomatal responses to Co(2). Showed more rapid leaf expansion under high CO(2) condition as compared with the wild type
RNAi-mediated knockdown decreases cytotoxicity in vitro and decreases virulence in a mouse model of infection (PubMed:33462434). RNAi-mediated knockdown has no effect on the germination or cell population growth of the fungus (PubMed:33462434)
No visible phenotype. Inhibition of HB29-dependent induction of stress-related target genes
The expression of a sigL-dependent gene (levD) is up-regulated two-fold in cells lacking yvyD, but the relative amount of the sigL transcript is not increased (PubMed:9852014). In cells overexpressing ppGpp synthase YwaC, deletion of this gene causes loss of 100S ribosome formation by dimerizing 70S ribosomes (PubMed:22950019)
No visible phenotype under normal growth conditions, but mutant plants have increased sensitivity to stresses induced by oxygen deprivation
Defective shoot gravitropism (PubMed:23331961, PubMed:25028496). Increased angle of inflorescence branches (PubMed:23331961)
Leads to abnormal trafficking of DRS2 from the endoplasmic reticulum to the Golgi, and decreases DRS2 protein level (PubMed:16956384, PubMed:19411703). Abnormal processing and modification of proteins in the trans-Golgi network (PubMed:16956384). Accumulation of aberrant membranous material probably derived from the Golgi (PubMed:16956384). Sensitive to cold, papuamide B (lipopeptide that permeabilizes phosphatidylserine-containing membranes), and Ro09-0198 (antifungal peptide that targets phosphatidylethanolamine in the outer leaflet of the cell membrane) (PubMed:25393116, PubMed:16956384, PubMed:22791719)
Strongly reduces the expression of dothistromin biosynthesis genes such as hexA, hexB, pksA, adhA, vbsA, dotB, ver1 and dotB, and the subsequent production of dothistromin (PubMed:25986547)
Death during early embryonic stages
Reduces sodium efflux from cells (PubMed:9430707). The rate of potassium efflux from the cell appears normal (PubMed:9430707)
Deletion results in a significant decrease in menaquinone production
Reduced sensitivity to cytokinin (mostly in shoots). Narrow vascular cylinder composed mainly of protoxylem cell files, with no apparent metaxylem or phloem. Hypersensitivity to ABA. Strong drought and salinity tolerance only in the presence of CK. Reduced cytokinin repression of several Pi starvation-responsive genes and increased sucrose sensitivity. More rapid germination, reduced requirement for light, and decreased far-red light sensitivity. Reduced sensitivity to N-isobutyl decanamide. Impaired benzyladenine (6-BA)-mediated repression of the iron uptake pathway. Impaired meristematic development in seedlings
Severely compromises the parasite in its ability to invade host cells. Inhibits secretion of the rhoptries, organelles whose discharge is coupled to active host cell penetration
Deletion of btsSR has no obvious phenotypic effect under the conditions tested
Impaired accumulation of siRNAs, reduced DNA methylation, and loss of transcriptional gene silencing at RdDM target loci. Impaired RNA polymerase V-chromatin associations (Pol V)
Enhanced susceptibility to Verticillium wilt resulting in wilting, stunting and chlorosis
Impairs the production of dothistromin but still enables the conversion of exogenous aflatoxin precursors, including norsolorinic acid, into dothistromin (PubMed:16649078)
Increased susceptibility to detergent and heat shock, slighty decreased resistance to oxidative stress. Poor growth in both human and mouse macrophage-derived cell lines. Attenuated infection in both SCID and BALB/c mice. 13-fold decreased transcription of sigB, no change in its own transcript in culture. The sigE mutant induced the up-regulation of human and mouse macrophage gene expression, which correlated with an increased innate immune response
Mutants are viable and show no difference in body weight or locomotor activity (PubMed:28096412). They are impaired in sensorimotor gating, spatial recognition memory and suppressed fear memory consolidation (PubMed:28096412). Spine density of dentate gyrus granule neurons is significantly reduced compare to wild-type animals, which is associated with decreased spine width and increased spine length (PubMed:28096412)
Reduced apical meristem dominance and length of hypocotyl, and increased cotyledon curling. Mutant plants are hypersensitive to ABA and osmotic stress
Abolishes the production of fumiquinazoline A and C but does not accumulate fumiquinazoline F (PubMed:24612080)
No obvious growth defects. No increased sensitivity to oxidative stress caused by exposure to hydrogen peroxide (in vitro)
Cells lacking this gene do not produce epsilon-rhodomycinone and accumulate 11-deoxycarminomycin and 11-deoxydaunorubicin
No visible phenotype; possibly due to the redundancy with NKX2-6. Mutant mice are viable and fertile. No obvious abnormalities in the caudal pharyngeal pouch derivatives (thymus, parathyroid glands, and thyroid gland), heart and gut. In NKX2-5 and NKX2-6 double mutants, the pharynx does not form properly and the development of the atrium is less advanced
Extreme defects in morphogenesis, positioning of mitotic division planes and cellular organization due to dysfunction of the cortical cytoskeleton and absence of the preprophase band of microtubules. In the ton1 insertional mutant, the two highly similar genes in tandem, TON1A and TON1B are simultaneously disrupted
Body weight is reduced in homozygous deficient male and female. Deficient mice lack plasmanylethanolamine desaturase activity and have dramatically lowered plasmalogen levels in their tissues
Essential for growth in fatty acid-free medium, but dispensable in medium with fatty acids. The growth in the presence of fatty acid depends on the type. Able to grow in a concentration-dependent manner in the presence of myristic acid, palmitic acid, or Tween 80 as the fatty acid sources, but unable to grow in the presence of unsaturated fatty like acids stearic acid or oleic acid. Intracellular survival in the murine macrophage line J774.16 is significantly reduced compared to wild type or heterozygous fungal cells. Required for systemic infection in mice. Impaired in its capacity to form biofilms on polysterene and silicone surfaces
Lethality at birth caused by severe defects in neurogenesis. While the brain and spinal cord of the mutants appear normal, their olfactory epithelium and sympathetic, parasympathetic and enteric ganglia are severely affected. In the olfactory epithelium, neuronal progenitors die at an early stage, whereas the non-neuronal supporting cells are present. In sympathetic ganglia, the development of neuronal precursors is arrested, preventing the generation of sympathetic neurons, without affecting glial precursor cells. Homozygous MASH1-null mice have smaller stomachs than the control, and neuroendocrine cells are mostly missing, while chief, parietal and pit cells are formed. However, the wall of the glandular stomach is much thicker, has a deeper fold structure, and the forestomach epithelium is villous compared to controls (PubMed:18173746)
Mutant mice show no signs of inflammation and have normal T-cell populations in thymus, lymph nodes and spleen
Reduced organ size, altered rosette leaf shape and increased number of coflorescences. Urydilation of miRNA 3'-ends
In zygotic mutant embryos, midgut forms primary constrictions but fails to elongate and the visceral muscle does not flatten but remains attached to the midgut epithelium. Embryos lacking maternal and zygotic mys show a delay in midgut migration. Mutant larvae present an olfactory phenotype, showing reduced response to isoamyl acetate but normal response to ethyl acetate
Reduced levels of oil seeds and delay in seed germination
Decreases growth during sulfur-limited conditions (PubMed:36455053). Simultaneous knockout of MET17 results in an inability to utilize hydrogen sulfide for methionine metabolism, and toxic accumulation of hydrogen sulfide (PubMed:36455053, PubMed:36379252)
No visible phenotype during the vegetative growth. Disrupted activities of the shoot apical meristem and/or axillary meristems after the transition to reproductive growth. Zpr3 and zpr4 double mutants exhibit homeotic transformation and ectopic meristem activity
No visible phenotype under normal growth conditions, but mutant plants exhibit hypersensitivity to drought stress
KLF15 null mice are viable, but in response to pressure overload, they develop cardiac hypertrophy and fibrosis
Significantly increases steady-state mitochondrial magnesium concentration (PubMed:25585246). Rescues the group II RNA splicing defect in the MRS2 and LPE10 deletion mutants (PubMed:25585246)
No effect on gametogenesis, but abolishes the ability of male gametes to merge with female gates. As a consequence, fertilization cannot occur, the normal life cycle is disrupted and mosquito-mediated transmission is abolished
RNAi-mediated knockdown results in increased protein aggregation in the oocytes of sperm-deficient young adult females which is not eliminated by mating (PubMed:29168500). RNAi-mediated knockdown causes a reduction in the formation of neuron cell corpses in a hyperactive mec-4 mutant background (PubMed:22157748)
RELA haploinsufficient mice show cutaneous ulceration, epidermal skin loss and a predominance of neutrophils and macrophages in the dermis and hypodermis in response to TNF treatment
Mice have a normal life-span and show no apparent abnormalities, including synaptic properties and hippocampal neuron growth. In platelets, hyperresponsive degranulation phenotype
Temperature-sensitive multivulva phenotype in a lin-15B n2245 or lin-52 n771 mutant background
Impairs the formation of preautophagosomal structures (PubMed:26442587). Blocks the maturation and subsequent localization of ATG8 to autophagic membranes (PubMed:26442587)
Knockout mice are significantly smaller at postnatal day 18 (P18), including significantly reduced weights of the liver and kidneys (PubMed:15509543, PubMed:16735444). Decreased blood glucose levels (PubMed:16735444). Decreased lumber spine, tibia, and total body bone mass density evident at 6 weeks of age, evidence of decreased density in the lumber spine as early as 3 weeks of age (PubMed:16286645). No change in overall muscle weight (PubMed:12773574). Decreased femur length, reduced cortical trabecular bone thickness (PubMed:16286645). Significantly reduced number of differentiated osteoclasts (PubMed:16968888). Reduced mitochondrial oxidative capacity in slow and intermediate muscle fiber types (PubMed:12773574). Reduced slow and intermediate program type muscle fibers in the biceps and triceps (PubMed:12773574). Decreased number of slow program type muscle fibers and NFAT activity in the soleus (PubMed:12773574). Kidney size and development is normal at P4, however by P18 kidneys show an obvious delay in maturation, displaying a decreased overall mass, poorly defined medullary rays and decreased cortical mass (PubMed:15509543). Upon examination the outer strip of the medulla and cortical regions of the kidneys are significantly decreased (PubMed:15509543). In the cortex there is a persistence of poorly developed surface glomeruli due to attenuation of mesangial cells numbers and a lack of maturation of tubules in the nephrogenic zone (PubMed:15509543). Reduced proliferation and increased apoptosis of cells within the nephrogenic zone at P18, potentially as a result of increased p27 expression (PubMed:15509543). Impaired kidney function evident by increased kidney collagen deposition, serum creatinine levels and decreased urine creatinine concentration from P4 onwards (PubMed:15509543, PubMed:16735444). Loss of AQP2 phosphorylation in response to vasopressin and decreased localization to the apical membrane of inner medullary collecting duct cells (PubMed:16735444). Most mice die between P21 and P28 as a result of progressive kidney failure (PubMed:15509543). Increased salivary osmolality despite normal electrolyte composition and protein content (PubMed:21435446). Decreased activity of amylase, peroxidase, lysozyme and sialic acid in the saliva (PubMed:21435446). Decreased number of secretory vesicles, mucosal acini cell size and protein content of serosal acini in the submandibular glands (PubMed:21435446). Decreased activity of calcineurin in the salivary glands (PubMed:21435446). Decreased thickness of the epidermal stratum spinosum, a thickened corneum and increased sloughing-off of keratinocytes in newborn mice (PubMed:19626032). Decreased thickness of the stratum spinosum is still evident at 4 weeks of age along with decreased skin elasticity (PubMed:19626032). Increased apoptosis in the supra-basal layers and the stratum spinosum of the epidermis (PubMed:19626032). Decrease in NFATc activity in basal epidermal cells and impaired differentiation of epidermal keratinocytes as shown by aberrant expression of the differentiation markers KRT14, KRT10 and IVL (PubMed:19626032). Decreased calcineurin activity in the brain and significant reduction in homosynaptic depotentiation (PubMed:10200317). Decreased calcineurin activity in T-lymphocytes and loss of T-lymphocyte proliferation in response to antigen stimulation (PubMed:8627154)
Mutants show at postnatal day 7 an increased amount of apoptotic cells in the developing cerebellum. However, adult brains do not show higher numbers of apoptotic cells in the cerebellum compared to wild-type. Astrocytes from knockout mice as well as heterozygous mice have a significant impairment in engulfment of apoptotic cells (PubMed:27170117). Reduced proliferation of primary myoblasts (Ref.10). Mutants have normal mobility and their skeletal muscles show mildly increased endomysial connective tissue. They display reduced motor activity after exercise and show slower muscle regeneration (PubMed:28498977). MEGF10 and DMD double knockout animals have pronounced fiber size variability and intracellular inclusions in the quadriceps femoris with extensive endomysial connective tissue infiltration. Mice develop muscle weakness, kyphosis and a waddling gait. At 2 months of age, they have reduced contractile force compared to wild-type mice. They display reduced motor activity after exercise and they walk shorter distances than wild-type. They have a delayed regeneration after muscle injury and an aberrant muscle fber typing and cross-sectional areas (PubMed:28498977)
Leads to clusters of growing cells that have not completed separation
Embryonic lethality between 3.5 and 9.5 dpc (PubMed:31978056). Conditional deletion in the liver depletes plasma lipids and protects mice from atherosclerosis (PubMed:33186557)
Increased expression of genes controlled by GacA/GacS (aprA, hcnA, phlA), partially suppresses a gacS deletion mutant (PubMed:15601712). Double csrA1-csrA2 deletion mutants fully suppress the requirement for GacA/GacS in control of its regulon (PubMed:15601712). Decreased expression and stability of RsmY and RsmZ sRNAs (PubMed:15601712)
Completely destroys asexual development, resulting in masses of vegetative hyphae that branched into the air and formation of white cotton-like colonies (PubMed:25530311)
Mice develop a neurological phenotype by 3 months of age, characterized by wasting, tremor and a gait ataxia secondary to a rigid thoracolumbar kyphosis (PubMed:12839988, PubMed:14998932). Recovery of synaptic transmission following synaptic depression induced by prolonged nerve stimulation is reduced (PubMed:17928447). Paired-pulse facilitation, a form of neuronal plasticity in which delivery of two stimuli within a second of each other produces an increase in the size of the second synaptic response, is enhanced (PubMed:17928447). They also display micro-ophthalmia with nuclear cataracts (PubMed:14998932). Mutant male mice are mostly infertile and exhibit testicular degeneration with increased apoptosis of postmeiotic spermatids (PubMed:11604514, PubMed:16967501). Hip1 and Hip1r double-knockout mice are dwarfed, afflicted with severe vertebral defects and die in early adulthood (PubMed:17452370)
No visible phenotype under normal growth conditions (permissive temperature of 22 degrees Celsius), but mutant plants show gametophytic male sterility due to defect in pollen tube growth at temperature of 30 degrees Celsius
No visible phenotype, but decreased uptake of L-arginine and L-lysine
Enlargment of the meristem and longer root length
Mutant mice are born at the expected Mendelian rate. They are viable and fertile, but have lower body weight than wild-type. They have normal spontaneous locomotor activity, but impaired motor skills (PubMed:9037088). Mice lacking both Kcnc3 and Kcnc1 are born at the expected Mendelian rate, but the pups do not thrive and all die about 26 days after birth when kept together with other littermates. Their failure to thrive may be due to motor problems; mutant pups survive when fed separately, but 45 days after birth their body weight is only 50 to 60 % of that of wild-type (PubMed:11517255). They appear uncoordinated and display severe ataxia, myoclonus and spontaneous whole-body muscle jerks, but display no obvious alterations in brain morphology (PubMed:11517255, PubMed:15217387, PubMed:16923152). Mutant mice are also much more sensitive to ethanol and fall sideways at ethanol concentrations that have no effect on wild-type mice (PubMed:11517255). They display increased locomotor and exploratory activity (PubMed:11517255, PubMed:15217387). Mice lacking Kcnc1 show reduced response to tremorogenic agent harmaline; mice lacking both Kcnc3 and Kcnc1 are resistant to the tremorogenic agent harmaline (PubMed:15217387)
Abolishes the production of radicicol and accumulates 14(15)-deepoxy-12(13)-dihydro-radicicol, also known as pochonin D (PubMed:19101477)
Cells partially restore cytochrome c oxidase activity in a CcdA-deficient mutant, possibly because the bacteria can no longer oxidize the 2 heme-binding thiol groups in apocytochrome c
Blocks autophagic activity by impairing the formation of autophagic bodies (PubMed:26442587)
Decreased axonal branches and decreased dendrites in motor neurons (PubMed:29061699). Decreased GAP43 mRNA levels (PubMed:29061699). Morpholino knockdown of the protein causes severe defects in motor neuron axonal outgrowth, including truncations and abnormal branching (PubMed:23063131)
No change in cytokinesis as gapA can functionally replace this protein. Null cells project numerous filopodia, show increased cell motility during growth and form multi-tipped aggregates during development and show elevated levels of F-actin that is organized in large leading edges, membrane ruffles or numerous large filopods. RgaA and gapA double mutant prevents quaternary complex formation (activated rac1A, ctxA, ctxB and either rgaA or gapA) and localization of the cortexillins to the cleavage furrow; interferes with cytokinesis to a similar extent as the simultaneous elimination of ctxA and ctxB, shows extremely large, flat and multinucleate cells and has increased cell motility and abnormal development
Cells laking this gene show a reduced growth rate and deformation on the side. Cytoplasm is detached from the cell wall and possesses a discrepancy density compared to wild-type. The content of D-arabinofuran residues (Araf) is reduced significantly
Severely reduced growth on tamarind xyloglucan and completely abolished growth on XyG oligosaccharides
No visible phenotype. Fully suppresses the rubber band uncoordinated phenotype in gain of function (gf) mutants of sup-10 but only slightly in gf mutants of sup-9 and unc-93
Deficient mice exhibit male infertility due to severely impaired spermiogenesis beginning at the round spermatid stage. Females are fertile
Animals are sterile producing no oocytes, display a protruding vulva phenotype past the young adult stage of development, and have disrupted or no alae formation. Fewer seam cells in larval stages post the L1 larval stage of development and impaired seam cell differentiation with large and irregularly shaped nuclei in seam cell-derived hyp7 cells. Defective gonadal growth and proliferation whereby gonads are thin and shortened probably due to decreased mitosis, and abnormal germ cell nuclei which are irregularly shaped and enlargened. Mis-localization of the beta-catenin homolog wrm-1 in the daughter cells of seam cells following cell division with expression equal to or stronger in the anterior daughter cells as opposed to the posterior daughter cells in 50% of mutants. Aberrant asymmetric localization of the wnt signaling component pop-1 in the nuclei of Z1 and Z4 somatic gonadal precursor cells. Increased expression of anti-apoptotic factor ced-9. RNAi-mediated knockdown results in egg-laying defective and burst vulva phenotypes
A dusA dusB dusC triple mutant exhibits a complete lack of 5,6-dihydrouridine modification in cellular tRNA, whereas each single mutant exhibits a partial reduction, compared to wild type
Shortened lifespan and reduced survival in response to heat stress. Impaired differentiation of the Y rectal cell to the PDA neuron with the Y cell remaining undifferentiated in its original rectal location. Double RNAi-mediated knockdown with lin-40 results in delayed cell cycle progression in mesodermal and endodermal embryonic lineages, but accelerated cell cycle progression in a subset of embryonic lineages (PubMed:25446273)
RNAi-mediated knockdown results in a maternal effect phenotype whereby the majority of F1 progeny of the RNAi-treated animals survive to adulthood, however 80-100% of F2 embryos arrest during embryogenesis
Mutant requires exogenous nicotinic acid for growth
Simultaneous disruption of ITR1A results in defective mating hyphae, reduces production of phosphatidylinositol and glucuronoxylomannan, reduces laccase activity, and increases expression of ITR1, ITR2, ITR3, ITR3A, ITR3B, ITR5 and ITR6 (PubMed:21398509, PubMed:23592982, PubMed:25201772). Simultaneous disruption of ITR1A impairs the ability of the fungi to traverse the blood-brain barrier and leads to attenuated virulence in a murine inhalation model of systemic infection, and the brain infection models by tail vein or intracerebral injection (PubMed:23592982, PubMed:21398509, PubMed:25201772)
Enhanced IgE-mediated, mast cell-dependent passive systemic anaphylaxis. No effect on differentiation of hematopoietic cells, including mast cells
Knockout mice develop ciliated cells with normal-appearing cilia and histology. However, ciliary beat frequency was lower in airways from knockout mice compared with control mice in presence of calcium (20% lower in the absence of stimulation, 35% lower after ATP stimulation). Knockout mice show reduced mucociliary clearance. Knockout mice do not seem to show endoplasmic reticulum stress response
Impairs the production of fusaric acid (PubMed:24389666)
Manifests the latent anticodon nuclease (prrC, ACNase)
Embryonic lethality between 9.5 and 10.5 days post coitum (dpc) (PubMed:8090202, PubMed:7773285). Abnormalities in extraembryonic trophoblast cell types; by 8.5 dpc, the ectoplacental cone (EPC) lacks diploid precursors and by 9.5-10.5 dpc, the spongiotrophoblast layer of the placenta is missing and the labyrinthine layer lacks normal highly vascularized organization (PubMed:8090202, PubMed:7773285). Unexpectedly, does not exacerbate trophoblast phenotype at 8.5 dpc when combined with simultaneous knockout of basic helix-loop-helix transcription factor HAND1 (PubMed:10611232). Conditional knockout targeted at cells expressing T-cell surface glycoprotein CD4 causes loss of body weight from day 3 to day 9 after influenza infection; 5-fold higher levels of viral hemagglutinin mRNA in lungs, by comparison with controls (PubMed:24463518). Lung-draining lymph nodes contain less than half normal level of follicular T-helper (Tfh) cells (PubMed:24463518). Development of Tfh cells and germinal center B-cells is reduced in the spleen (PubMed:24463518). Increased expression of TCF3/E47 in Tfh and naive T-cells (PubMed:24463518)
Reduced fertility, fruit length and seed set (PubMed:17600712). Reduced replum width and cell number (PubMed:25039392)
Loss of the GlcN(Ac) glycosylinositol phosphorylceramides (GIPCs) is seedling lethal. Stunted plants when regenerated from callus
Slow to respond to octanol
Abolishes botcinic acid and botcinin production
Morphological defects at birth including growth retardation, short limbs, cleft palate, sternal dysraphia, shortened intestine and cyanosis. Long bones display reduced mineralization due to delayed chondrocyte differentiation. Neonates breathe abnormally, do not suckle and die within a day after birth, probably due to insufficient respiration as a result of the cleft palate
Embryonic lethal in 10 percent of animals and slight increase in the number of males produced (PubMed:19087961). In oocytes, slight increase in metaphase and anaphase meiotic spindle length, persistence of microtubules around chromatids during anaphase and delay in spindle assembly in meiosis II (PubMed:19087961, PubMed:23918937). However, localization of spindle pole marker aspm-1 and the shape of the meiotic spindle are normal (PubMed:23918937). The second polar body has a larger size and in 16 percent of animals its extrusion fails resulting in aneuploidy (PubMed:19087961). The size of the polar body is further increased in a mei-1 (or646) mutant background (PubMed:23918937). Increases mei-1 phosphorylation in a gain of function mei-1 (ct46) and tbb-2 (sb26) mutant background (PubMed:23918937). In gain of function mei-1 (ct46) mutant background, RNAi-mediated knockdown partially rescues embryonic lethality and improves embryonic mitotic spindle morphology in terms of length and orientation (PubMed:19087961)
Embryonic lethality when homozygous (PubMed:23104832, PubMed:23734982, PubMed:23639116)
RNAi-mediated knockdown disrupts the localization of the condensin subunit smc-4 to mitotic chromosomes (PubMed:11914278). RNAi-mediated knockdown causes failure in mitotic chromosome segregation and cytokinesis, leading to aneuploidy (PubMed:11914278, PubMed:12213836)
90% decrease of all indole-3-carbonyl nitrile (ICN) derivatives and increased susceptibility to virulent Pseudomonas syringae
Reduced fertility in females: acceleration of the age-associated decline of fertility in female mice, due to progressive loss of oocytes. Males are normal and fertile
Cells lacking this gene display a retardation of CtsR-dependent gene induction as well as a delayed restoration of the repressed stage. They also show a significant delay in disaggregation of heat-generated insoluble protein aggregates
Increased sensitivity to redox-cycling compounds menadione and plumbagin, and to diamide. Loss of expression of mycothiol biosynthetic and recycling genes
Erected leaves, with reduced lamina joint adaxial and abaxial sclerenchyma cell length
Sensitive to cold and thermal stress, simultaneous disruption of dph3 suppresses the growth defect during thermal stress
No oxygen uptake activity by the cbb3-type cytochrome c oxidase complex can be detected
Affects the glycerophosphocholine metabolism but not the glycerophosphoinositol metabolism (PubMed:16141200)
Cardiomyocyte-specific double konckout for ESRRA and ESRRG are slower at gaining weight, smaller and shorter from 5 to 7 days of age compared to controls. They show decreased absolute weight of most internal organs except the heart. They have about 70% decreased plasma IGF1 levels but normal plasma growth hormone levels. At 14-15 days, mutants develop lethal dilated cardiomyopathy and heart failure
In pak-1 and pak-2 double mutants, defects in embryogenesis and L1 stage lethality. The few animals reaching adulthood have normal ventral cord commissural motoneuron axonal guidance and are relatively coordinated. In max-2 and pak-1 double mutants, DD and DC motoneuron axons fail to reach the dorsal cord (PubMed:17050621). Animals are also uncoordinated, defective in egg laying and in distal tip cell (DTC) migration, guidance and morphology, and exhibit ventral enclosure defects (PubMed:17050621, PubMed:19023419)
Mutant mice are viable and were born at the expected Mendelian ratio, but they have a mortality rate of about 20%. They show early growth retardation. Mutant animals exhibit behavioral abnormalities, including clasping when suspended by the tail, impaired both hippocampus-dependent and hippocampus-independent short-term memories and absence of acoustic prepulse inhibition. They also exhibit significantly higher levels of anxiety. They become hyperactive in response to stress or novelty, but are more sedentary than wild-type in a familiar environment. Males have a profound deficit in nest-making behavior and were aggressive when group-housed, even with littermates
Mutant mice, born at the expected Mendelian rate, show growth retardation and exencephaly by 9.5 dpc and die by 10.5 dpc
Deletion of the entire oleABCD gene cluster leads to the complete absence of nonpolar extractable products. The oleABCD deletion strain shows a significantly longer lag phase than the wild-type strain when shifted to a lower temperature
Cells lacking this gene show are defective in response to oxidative stress. Complementation with mazG restores resistance to oxidative stress
Deletion results in up-regulation of flagellar genes that code for structural and regulatory proteins, leading to the multi-flagellated phenotype, which shows motility defect
Cells do not grow in normal air but do grow on 2% CO(2), called a high-CO(2) requiring phenotype, HCR (PubMed:8491708, PubMed:22928045). Cells make aberrantly large polar bodies instead of wild-type carboxysomes, no accumulation of CcmO (PubMed:22928045, PubMed:24267892). An alternatively generated deletion mutant does not form abnormal polar bodies (PubMed:25117559)
Chronic renal failure and kidney lesions. Affects podocyte morphology and function
Mutations abolish synthesis and secretion of both EsxA and EsxB, without affecting their transcription. Mutant shows a significant reduction in the ability to establish kidney or liver abscesses in infected mice
Mutant mice showed no obvious physical or behavioral abnormalities. Some deficiency in motor learning can be observed, compared to wild type, in a motor performance and learning test on a rotating rod, but only at high rotation speed
Disruption mutant is incapable of incorporating selenium into tRNA. Disruption does not affect 2 thiouridine generation (PubMed:14594807). Mutant cannot produce geranylated RNA (PubMed:22983156)
The natural mutant mHwTx-III does not reversibly paralyze cockroaches
Causes cysteine auxotrophy
Morpholino knockdown in the embryo prevents the formation of intersegmental blood vessels (PubMed:21835952). Morpholino knockdown of loxl2a and loxl2b in the embryo results in increased expression of Sox2 in the central nervous system, particularly in the eye, hindbrain and spinal cord (PubMed:25959397). It also leads to impaired neural differentiation with morphological defects in the brain where the anterior brain is rounder than normal and the eyes present a flatter curvature (PubMed:25959397). Embryo development is also compromised (PubMed:25959397)
Leads to a defect in cell fusion trough defective membrane fusion and organization, as well as cell wall remodeling
Deletion mutant shows retarded growth at high concentrations of K(+) (PubMed:27112601). Deletion of the gene impacts the abundance of muropeptide species. The absence of YgaU leads to the activation of the Cpx pathway (PubMed:25422305)
Abolishes the production of equisetin and accumulates the intermediate trichosetin (PubMed:23614392)
Viable and fertile (PubMed:24743150, PubMed:25267631). At birth, lymphocyte populations in bone marrow, spleen and lymph nodes appear to be normal (PubMed:24743150, PubMed:25267631). Frequencies of activated peripheral T-cells are increased in older animals (PubMed:24743150, PubMed:25267631). Levels of the inflammatory cytokines CCL11, CXCL10, CCL2 and CXCL9 are significantly increased (PubMed:25267631). Tissues show signs of chronic inflammation, however this does not progress to overt autoimmune disease (PubMed:25267631)
Mice are more resistant to lethal infections by group A Streptococcus due to increased autophagy (PubMed:23093945). Macrophages show increased autophagosomes and more efficient bacterial clearance (PubMed:23093945)
Cells lacking this gene are not viable. They exhibit accumulation of diacylglycerol, disappearance of phosphatidylglycerol, and the cessation of lipoteichoic acid formation
No visible phenotype under normal growth conditions. The double mutant plants atg13a-1 and atg13b-2, or atg13a-2 and atg13b-2 are hypersensitive to nitrogen or carbon starvation and show early senescence
Knockout mice have a decreased basal prepulse startle response and an enhanced acoustic startle response (PubMed:17296554). Decreased concentration of TH and SLC6A3/DAT in dopaminergic axons and axon terminals, does not affect axon morphology (PubMed:17296554). Male mice are sterile due to immotile and structurally defective sperm (PubMed:15737930, PubMed:15737931). Sperms exhibit defective mitochondrial architecture, bent and nonmotile tails, absence of the annulus (a fibrous ring structure connecting the midpiece and the principal piece of the sperm flagellum), lower ATP consumption, impaired capacitation and defects in the removal of residual cytoplasm (PubMed:15737930, PubMed:15737931). Increased in intestinal crypt diameter, length and cell number (PubMed:30389919). Decreased apoptosis and increased maintenance of colon crypt architecture in response to intestinal barrier damage, as a result of improved Lgr5-positive intestinal stem cell-mediated regeneration (PubMed:30389919). Decrease in differentiated intestinal goblet cells (PubMed:30389919). Increase proliferation of Lgr5-positive intestinal stem cells and lysozyme-positive granular Paneth cells in the crypt base of both the small and large intestines (PubMed:30389919). Increase in Reg4-positive cells in colon epithelium and nuclear localization of CTNNB1 in cells of the intestinal crypt base (PubMed:30389919). Increased incidence of spontaneous hematopoietic malignancies, splenomegaly and a third of mice developed spontaneous neoplasia at 11 to 15 months old (PubMed:20952537). Increased number of B-linage progenitors, immature B cells and increased functional hematopoietic progenitor cells in the bone marrow of 6 to 13 week old mice, increased hematopoietic progenitor cell levels persisted in 11 to 15 month old mice (PubMed:20952537). Normal hair follicle bulge morphology but twice as many epithelial progenitor cells and an elongated tail epithelial strand (PubMed:23788729). Significantly improved dorsal skin wound repair which included an increased amount of proliferating hair follicle stem cells in the wound bed (PubMed:23788729). Decrease in apoptosis of hematopoietic progenitors in response to irradiation (PubMed:20952537). SEPTIN4 and XIAP double knockout mice show no differences in apoptosis or lymphoproliferation in hematopoietic stem and progenitor cells (PubMed:20952537). Delayed dermal wound repair and hair follicle regeneration, via increased apoptosis of hair follicle stem cells (PubMed:23788729)
Combined, RNAi-mediated down-regulation of Salivary cystatin-L and Salivary cystatin-L2 in salivary glands strongly impairs the tick's ability to feed on hosts. About 40% of the ticks cannot feed and die. The remainder show much reduced blood intake, appear unhealthy and display strongly reduced egg laying. RNAi-treated ticks show an impaired ability to suppress the host's immune response to tick salivary proteins
In males, RNAi-mediated knockdown in germ cells results in loss of male germline stem cells (GSCs) at day 14, appearance of branched fusomes and down regulation of a number of genes including Stat92E expression in adult testes (PubMed:34644293). In females, RNAi-mediated knockdown in germ cells results in a decrease in germline stem cells in the germaria (PubMed:34644293). RNAi-mediated knockdown in somatic cells or in differentiating spermatogonia does not affect GSC number in larval and adult testes or female germaria (PubMed:34644293). In the germline, simultaneous RNAi-mediated knockdown of Rtel1 and grp results in partial rescue of loss of germline stem cell (PubMed:34644293). In the germline, RNAi-mediated knockdown of Rtel1 in a lok mutant background results in partial rescue of loss of germline stem cell, including restored levels of Stat92E expression (PubMed:34644293)
Mutants have normal body morphology, but with reduced body length and width, delayed larval development and decreased roaming movements (PubMed:22022287). May exhibit defective chemotaxis tendencies (PubMed:15231740). Defective cilia structure and function (PubMed:15231740, PubMed:22022287, PubMed:26150102). This is characterized by increased accumulation and mislocalization of intraflagellar transport proteins and impaired movement of intraflagellar transport proteins along the ciliary axoneme (PubMed:15231740, PubMed:22922713, PubMed:26150102). Defective polycystin-mediated cilia signaling and mislocalized and increased accumulation of mechanosensory receptors pkd-2, osm-9 and odr-10 within cilia (PubMed:26150102). Impaired localization of the guanylyl cyclase proteins, gcy-8, gcy-18 and gcy-23, within AFD sensory neurons, with accumulation along the dendrite as well as in the finger compartment of AFD neurons (PubMed:25335890)
Arrested cell division in the G1 phase during larval development (PubMed:25562820). RNAi-mediated knockdown results in L4 stage arrest which is associated with uncoordinated movements and a protruding vulva (PubMed:10518501). Impaired cell division of P blast cells, somatic gonad precursors Z1 and Z4 and intestinal cells (PubMed:10518501). Severe defect in the proliferation of P blast cells, intestinal cells, vulva cell precursors and somatic gonad precursors (PubMed:10518501). Mesoblast M cell division is normal (PubMed:10518501). Double knockout with lin-35 rescues the cell cycle progression defect in the single cdk-4 mutants (PubMed:11684669, PubMed:25562820)
Strong reduction of female fertility, while males remain unaffected. Gametes are unable to either recognize or attach to each other
Inability of neutrophils and phagocytes to kill pathogenic bacteria including M.smegmatis, M.avium and M.tuberculosis (PubMed:26402460). Decreased survival following epicutaneous infection with methicillin-resistant S.aureus or orogastric infection with S.typhimurium in contrast to wild-type littermates which clear the infections (PubMed:26402460). Rapid development of listeriosis following L.monocytogenes infection with mutants showing increased bacterial burden and increased serum levels of inflammatory cytokines in contrast to wild-type mice which show no signs of the disease (PubMed:26831467)
Mice die within 5 to 12 hours after birth due to defective skin barrier function loosing around 2.5% of body weight per hour. Dehydratation through the skin is increased 4 folds. The outside-in barrier acquisition is also affected, the skin remaining permeable at 18.5 dpc while it is impermeable in wild-type mice. The stratum corneum is more tightly packed while other layers are unaffected. Hyperkeratosis of the skin is observed but it is not associated with defects in epidermal differentiation while the ceramide composition of the epidermis is altered with an absence of ester-bound ceramides
Mutant etiolated seedlings display reduced ethylene-response in roots and enhanced ethylene-response in coleoptiles. Mature mutant plants have increased shoot length, branches and adventitious roots at high node position on the shoot and impaired grain filling
Enhanced number of emerged lateral roots
Reduced viability at 37 degrees Celsius, death at 42 degrees Celsius (PubMed:7889935). Loss of transcription from rpoE-dependent promoters (PubMed:7889935). Increased sensitivity to outer membrane disruption (PubMed:7889934)
Disruption of the gene abolishes swarming (PubMed:11751842, PubMed:19416356). Mutant lacking this gene does not show significant decrease in CSF production, but the triple deletion mutant aprE-epr-vpr is defective in the cleavage event to release mature CSF (PubMed:17666034)
Abnormal PIP proteins (e.g. PIP1-4, PIP2-1 and PIP2-7) trafficking and subcellular localization leading to a reduced levels at the plasma membrane
Leads to reduced production of sirodesmin PL and decreased transcription of sirodesmin PL biosynthetic genes (PubMed:18023597)
Leads to slight miconazole susceptibility
Inactivation of the gene leads to biotin auxotrophy
Single gene deletion leads to slightly smaller magnetite crystals, but no other measurable phenotype (PubMed:17965152). Deletion of any 2 genes encoded in this operon (mamC, mamD, mamF and mamG) decreases crystal size regardless of the protein combination. Deletion of the operon leads to smaller magnetite crystals in irregularly spaced chains, but no other phenotype (PubMed:17965152). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Conditional knockout at the merozoite stage, does not cause any defect in schizont morphology, merozoite number and maturation initially. During the subsequent invasive cycle in host erythrocytes, merozoite replication is severely impaired due to a premature rupture of the parasitophorous vacuole and erythrocyte membranes resulting in an inefficient dispersal of released merozoites
Elongated cilia
Enlarged peroxisomes and elongated mitochondria
Disruption results in bleomycin resistance and alters the outcome of a chronic infection within the host, but does not alter sensitivity to other membrane-disrupting agents and resistance to clinically important antituberculosis drugs (PubMed:18996991). Deletion eliminates the ability of the bacterium to transport vitamin B12 and related corrinoids (PubMed:23407640)
Sensitive to sodium dodecyl sulfate
Cells lacking this gene are blocked in the monooxygenation of tylactone at position C-23 and accumulate 20-oxo-5-O-beta-mycaminosyltylactone
Slight decrease in proliferation and slight increase in doubling time during the asexual blood stage
Mice are viable and healthy, but display reduced expression of Chd4, leading to rerepression of fetal hemoglobin genes Hbg1 and Hbg2
As early as postnatal day 7, mice have already undergone significant molecular retinal changes. The molecular responses change dramatically during development and were distinct from responses to the disruption of the photoreceptor transcription factors Crx, Pde6b and Nrl. The JNK signaling cascades are specifically compromised in Rp1 defective retinas. Double heterozygotes of Rp1 and Rp1l1 exhibit abnormal outer segment morphology and reduced single rod photosensitivity and dark currents
A fliC mutant is attenuated in a murine model of infection. As the infection progresses, the number of cfu per spleen from mice infected with the mutant is significantly lower than the number from mice infected with the wild-type
Reduced proportion of the cellular volume devoted to chloroplasts leading to an abnormal chloroplasts distributions (PubMed:26862170). Inhibited far-red block of seedlings greening associated with reduced levels of chlorophyll and chlorophyll a/b-binding proteins of photosystem II (e.g. Lhcb1.2) (PubMed:26862170). Lower levels of chlorophyll, especially in plants lacking REC1, REC2, REC3 and FMT/CLU (PubMed:26862170)
Mutant is impaired for staphyloferrin B production
Disruption mutant is unable to use melibiose and raffinose as carbon sources but it can use glucose and galactose
Morpholino knockdown of the protein increases jaw cartilage disorganization, decreases the size of brain structures and the lateral area and convolution of proximal renal tubules at 4 days post-fertilization (dpf) (PubMed:28264986). Embryos with CRISPR-induced cep55l null mutations display altered craniofacial patterning and atrophy of the proximal renal tubules (PubMed:28264986)
Morpholino knockdown of the protein causes malformation in telencephalon (PubMed:26663717). Impaired neural stem/progenitor cells (NSPCs) proliferation in the telencephalon (PubMed:26663717)
Developmental and morphological defects at the vegetative stage in cotyledons and true leaves, and during the reproductive phase in flowers and siliques. Increased abortive frequency of embryos
Mutant larval wing disks show a decrease in thickness and in the content of O-glycoproteins specifically along the basal surface of the columnar epithelial cells (PubMed:18835818, PubMed:20371600). Adult mutants display blistered wings (PubMed:18835818, PubMed:20371600). Mutant larval shows down-regulation of synaptic O-linked glycosylation, integrin level and signaling via Ten-m and if. Synapses show smaller synaptic boutons, expanded activity-dependent postsynaptic pockets which affect synaptic plasticity and synaptic strength in both the pre-synaptic and post-synaptic assembly, no differences in neuromuscular junction morphology (PubMed:25253852). Simultaneous knockout of Pgant35A, restores normal synaptic strength (PubMed:25253852). RNAi-mediated knockdown in the developing wing results in a blistered phenotype (PubMed:22157008)
PPX2 deficiency leads to increased polyP levels, early bacterial growth arrest and reduced susceptibility to the first-line drug isoniazid, as well as increased bacterial survival during exposure to stress conditions and within macrophages. Mutant shows increased thickness of the cell wall and reduced drug permeability
Increased seed germination rate after high temperature fluctuation due to a reduced seed dormancy; fail to enter secondary dormancy after 3 days at 40 degrees Celsius
Reduces capacity to produce anabasine and nicotine associated with barely detectable levels of pyridine alkaloids in leaf tissues
Mice fail to breathe and die at birth. Display pronounced cell death of motoneurons in the nucleus ambiguus and induce strong alterations of rhythmogenesis in the embryonic parafacial respiratory group (e-pF or pFRG) oscillator and cranial motoneurons that control the upper airways. Mice also fail to form small smooth cells in the proximal ureter and urine flow is impaired because of functional obstruction caused by absent peristalsis in the proximal ureter that leads to hydronephrosis and hydroureter phenotypes
Mutants show profound reductions in neutrophil counts and chemotaxis as well as a diminished exocrine pancreas size
High levels of embryonic lethality and a high percentage of males among the surviving progeny (PubMed:19798442). Failure to localize syp-1 and syp-3, components of the synaptonemal complex central region, to chromosomes (PubMed:19798442). Failure to form chromosome synapses and lack of synaptonemal complex formation leading to a delay in meiotic progression (PubMed:19798442). Impaired stabilization of homologous pairing interactions (PubMed:19798442). Lack of chiasmata formation during diakinesis (PubMed:19798442). Reduced crossover frequency (PubMed:19798442). Increased rad-51 foci during pachytene indicating impaired DNA double-strand break (DSB) repair progression (PubMed:19798442). Elevated germ cell apoptosis (PubMed:19798442). Disruption of plk-2 localization to synapsed chromosomes during pachytene (PubMed:28346135)
Brain-specific, conditional knockout mice are born at the expected Mendelian frequency, but most of them die a few hours after birth. If they show no overt brain morphological abnormalities, a neuronal accumulation of SQSTM1 in foci is observed
Stay-green phenotype during dark-induced senescence
Various olfactory phenotypes, such as abnormal localization of ADCY3, shortened olfactory cilia, and reduced electrophysiological and behavioral sensitivities to odorants
Mice die at birth with numerous morphological abnormalities (PubMed:20596238). Incomplete separation of the heart ventricles with fused aorta and pulmonary arteries (PubMed:20596238). Skeletal malformations including hypoplastic sternebrae, unfused vertebral bodies and hypomineralized skull (PubMed:20596238). All mice have microphthalmia and open eyelids, with 50% of mice exhibiting omphalocele, and 40% exhibiting cleft palate, cleft lips and a tail kink (PubMed:20596238). Sox11 and Sox4 double knockout mice die in utero at 10.5 dpc (PubMed:20596238). Embryos are small and unturned with developmental defects such as failure of heart primordia fusion, a thin and undulated neural tube, failure of limb budding and somite formation, suggesting developmental arrest at 8.5 dpc (PubMed:20596238). Embryos showed reduced cell proliferation and increased cell death in the neural tube, branchial arches, somites and reduced expression of Tead2 at 9.5 dpc (PubMed:20596238). Sox4, Sox11, and Sox12 triple knockout mice show severe thinning and undulation of the neural tube (PubMed:20596238)
Mice show severe cardiovascular defects and embryonic lethality by 10 dpc. Vasculogenesis occurs normally however, angiogenesis is abnormal. Angiogenic defects are most pronounced in the yolk sac and include a complete failure to elaborate the primitive vascular scaffold into higher-order branched arteries, veins, and capillaries
Deficient mice show an altered thymic organization with altered morphology and location of mTECs (PubMed:19015306). They exhibit defective accumulation of thymic dendritic cells in the medullary region and generation of naturally ocurring T cells in the thymus (PubMed:21300913)
RNAi-mediated knockdown leads to impaired removal of the cohesin component scc-1 from kinetochores on mitotic metaphase chromosomes
Embryonic lethality ranges from 40% to 100% (PubMed:35852146). One-cell stage embryos show shorter lengths with decreased pronuclei diameter resulting in decreased embryo nuclear size (PubMed:35852146). Nascent nuclear envelopes in the non-core regions are more continuous and contain fewer holes that may contain nascent nuclear pore complexes following initiation of furrow ingression (PubMed:35852146). Two- and four-cell stage embryos contain half the normal density of nuclear pore complexes (PubMed:35852146). Reduced localization of inner ring component npp-19 and Y-complex proteins to the nuclear rim, such as npp-6/nup160, npp-15/nup133, npp-18/seh1, npp-2/nup85 and mel-28/elys (PubMed:35852146). RNAi-mediated knockdown shows reduced nuclear import and a decrease in diameter of pronuclei (PubMed:35852146)
Increased susceptibility to a number of antibiotics such as rifampicin, clofazimine, novobiocin, ethambutol and vancomycin; grows slowly in liquid culture and forms small colonies (PubMed:19564371). Severely reduced growth with cholesterol as the sole carbon source; lag phase is very long and grows much slower (PubMed:26155739). Accumulates less intracellular cholesterol (PubMed:26155739)
Reduced leaf size, root length and biomass production due to diminished expansion of epidermis and parenchyma cells
No visible phenotype (PubMed:29139551). The vcc-3 deal3-1 double mutant shows leaf asymmetry (PubMed:29139551). The vcc-3 deal2-1 deal3-1 triple mutant shows a strong leaf asymmetry (PubMed:29139551)
Increases the rate of incompatibility cell death
Morpholino knockdown results in embryos which are profoundly anemic
Embryos are anemic and die around day 12.5 post-coitum (dpc). Primitive erythrocytes are found, but definitive erythropoiesis is absent. Fetal liver myeloid progenitors, although present based on the expression of lineage specific markers, fail to respond to erythropoietin (Epo), thrombopoietin (Thpo), interleukin-3 (Il3), or granulocyte and macrophage colony-stimulating factor 1 (Csf1 and Csf2). Fetal liver BFU-E and CFU-E colonies are completely absent. However, multilineage hematopoietic stem cells (CD34(low), c-kit(pos)) can be found, and B-lymphopoiesis appears intact
No visible phenotype. Mice are viable, appear healthy, and do not display any obvious behavorial defects. Cortical neurons from mutant mice display impaired axon growth cone collapse in response to Flrt2 and a tendency towards accelerated radial migration in the developing brain
RNAi-mediated knockdown causes a resistance to nicotine-mediated paralysis and small impairment in mobility
Mice die at 10-11 dpc. They show both extraembryonic and embryonic vascular defects, and severe abnormalities in the development of the posterior trunk
Mutant is still able to grow on hemin as a sole source of iron but slower
Simultaneous disruption of erfK, ybiS, ycfS and ynhG leads to loss of covalent anchoring of the major outer membrane lipoprotein (Lpp) to the peptidoglycan. Overexpression of ynhG in this background increases meso-diaminopimelyl-3-a meso-diaminopimelyl-3 cross-links but does not restore Lpp anchoring
Conditional knockout in muscle leads to muscle atrophy and weakness. Mutant mice loose significantly more muscle mass after denervation as compared to wild-type animals and show excessive proteolysis in denervated muscle. The loss of maximal absolute force after fasting is greater in mutant mice than in controls
Organ fusion between rosette leaves and in inflorescences
Loses the ability to produce yanuthones D and E (PubMed:24684908)
Mutant animals lack methylation of 'Lys-20' of histone H4 (H4K20me) (PubMed:23028348). In a glp-1(e2141) mutant background which lacks a germline, the X-linked genes aco-1, ajm-1 and apl-1 are up-regulated (PubMed:23028348). RNAi-mediated knockdown leads to embryonic lethality in a mutant background of the dosage compensation proteins dpy-21 or dpy-28 (PubMed:23028348). Increases 'Lys-16' acetylation of histone H4 on hermaphrodite X chromosomes (PubMed:22393255). In the TOR complex 2 mutant background rict-1, suppresses the growth delay and elevated body fat index (PubMed:23884442). Causes mitotic chromosome segregation defects and chromosome bridges resulting in delayed or arrested embryonic development and embryonic lethality (PubMed:28867287)
Disorganised A and I bands in body-wall muscle structure (PubMed:7348600). Defective extension of body wall muscle connections or arms towards the ventral nerve cord (PubMed:27123983). Double knockout with madd-3 results in severe muscle arm extension defects (PubMed:27123983)
No production of mycinamicin II and accumulation of mycinamicin VI
Homozygous embryonic lethality, oogenesis defects, tissue overgrowth characterized by excessive cell proliferation and diminished apoptosis
Cells lacking this gene are not able to produce aerobactin and accumulate N-citryl-N-acetyl-N-hydroxylysine
Death at E6.5 due to defecs in cell proliferation
Deletion of the gene slows down but does not eliminate degradation of DAPG. Deletion does not alter the ability of the bacterium to colonise plants or promote plant growth
Abolishes the biosynthesis of communesins A and B
Larger leaves with an increased cell number
No effect on flowering time, due to a partial redundancy with FRL1. Frl1 and frl2 double mutants flower earlier than frl1 single mutant
Cells lacking this gene do not grow at high osmotic strength in the presence of choline, but are able to grow when the medium is supplemented with glycine betaine
Mutant mice have normal weight at birth, but display growth retardation and lower body weight during postnatal development and in adulthood. Females display normal fertility. Males have normal mating behavior, but are infertile, due to defects in spermiogenesis and acrosome formation
Lethal phenotype at the seedling cotyledon stage that are small and chlorotic, with disorganized veins, swollen root hairs, and altered epidermal cell morphology as well as leaf and shoot apical meristem defects. Altered RNA decay. These phenotypes are suppressed at low temperature
Mice lacking GILT are deficient in generating major histocompatibility complex class-II-restricted CD4(+) T-cell responses to protein antigens that contain disulfide bonds. Mice are partially protected from Listeria monocytogenes infection, they exhibit reduced bacterial replication in spleen and liver. Bacterial escape from the phagosome is impaired in the macrophages of these mice
Disruption results in a 2.5-fold reduction in surface adhesion, a 3.5-fold reduction in biofilm formation, a large reduction in curli production, a drastic decrease in csgB expression (400-fold reduction in aerobic growth) and in an approximately 3.5-fold reduction in pgaA transcript levels in comparison with wild-type. Disruption partially suppresses the reduced motility of a pdeH disruption; concomitant disruption of dosC, dgcE, dgcQ and dgcN completely restores motility, suggesting these 4 genes, together with the c-di-GMP phosphodiesterase PdeH, form a network that regulates cell motility by altering levels of c-di-GMP
RNAi-mediated knockdown results in ectopic expression of type II neuroblast lineages in larval brains
Lethal in combination with the absence of either RRP6 or its cofactor RRP47. Weak but detectable stabilization of unspliced pre-mRNAs, and stronger stabilization is detected for mRNAs with defects in 3' cleavage and polyadenylation
RNAi-mediated knockdown decreases chorismate mutase activity (PubMed:26579090). RNAi-mediated knockdown decreases cell population growth rate (PubMed:26579090). RNAi-mediated knockdown decreases antifungal activity against Fusarium oxysporum and Botrytis cinerea (PubMed:26272569)
Pab2 and pab8 double mutants show significant growth and development defects and more resistance to Turnip mosaic virus (TuMV)
Leads to resistance to oxidants such as H(2)O(2) (PubMed:25598154). Impairs apoptotic phenotype after H(2)O(2) treatment (PubMed:25598154). Leads to hyper-resistance to cell wall stress agents such as calcofluor white and Congo red (PubMed:25598154)
No effect on assembly or function of T2SS-beta
Cells lacking this gene are unable to grow in medium containing phenylalanine or tyrosine as the sole carbon sources, and accumulate homogentisate
Viable and fertile, with no obvious phenotype (PubMed:15035436, PubMed:24700158). In the salivary gland nuclei of third-instar larvae, there are increased deformities in the nuclear lamina with 1 to 7 abnormal O-shaped Lam-containing structures (PubMed:24700158). No significant decrease in adult survival, however double mutants with either Ote or MAN1 do not survive to the adult stage (PubMed:24700158). Double bocks and Ote mutants larvae have small brains, their imaginal disks are reduced in size or absent, and only 10% of second-instar larvae reach the pupal stage (PubMed:24700158). In bocks and MAN1 double mutants, pupal survival and larvae development is unaffected (PubMed:24700158)
Does not affecct the production of 2,4'-dihydroxy-3'-methoxypropiophenone or 4'-hydroxy-3'-methoxypropiophenone
Simultaneous RNAi-mediated silencing of both ARF2A and ARF2B results in severe defects in tomato fruit ripening process (PubMed:26959229, PubMed:26716451). Plants form triple cotyledons and have enhanced root branching. Tomatoes have reduced pigment accumulation, enhanced fruit firmness, low climacteric ethylene production and inability to ripen upon exogenous application of ethylene (PubMed:26716451). The fruits are either parthenocarpic or contain only a few seeds, and the time from anthesis to breaker (Br) developmental stage is significantly extended compared to wild type fruit (PubMed:26959229). Altered expression of ethylene biosynthesis, signaling and ethylene response factor (ERF) genes and genes involved in the carotenoid pathway and ripening-related cell wall metabolism. Up-regulates auxin-responsive genes (PubMed:26716451). Down-regulated expression levels of ripening regulators, including RIN, AP2a, NOR, TAGL1, ETR3, ERF1 and CNR at the red (R) fruit stage. Expression levels of hormones such as abscisates, cytokinins and salicyclic acid are altered, and levels of carotenoids phytoene, phytofluene and lycopene are reduced in red fruits. Gibberellic acid (GA) and auxin expression levels are unchanged. Compounds normally reduced upon ripening show higher levels than wild type fruit as a result of simultaneous silencing of ARF2A and ARF2B (PubMed:26959229). RNAi-mediated silencing of ARF2A results in increased frequency of polycotyledons and significantly increased lateral organ development. Lateral shoot emergence occurs at the first leaf node compared to eighth leaf node in wild type. An unusual meristem appears in the mature leaf and lateral shoot development appears below the position of the cotyledon nodes. Unusual lateral branches also appear in the stem, which is located far from the leaf node. Epiderm is split along the axis at the site of the unusual meristem. Abnormally enlarged interfascicular cambia and phloem. Altered auxin distribution, and expression of auxin transporter PIN genes and ectopic axillary shoot-related transcriptional factors (PubMed:27645097)
No visible phenotype in ethylene response; due to the redundancy with ETR1. Ers1 and etr1 double mutants display a constitutive ethylene-response phenotype
Causes a blockage in the conversion of clavines to D-lysergic acid (PubMed:16538694). Abolishes the production of the peptide alkaloids ergotamine and ergocryptine but accumulates substantial amounts agroclavine accompanied by varying amounts of elymoclavine and chanoclavine which ranged between 10 and 20 percent of the amount of agroclavine formed (PubMed:16538694). Leads also to traces of chanoclavine aldehyde (PubMed:16538694)
Delayed age-dependent and darkness-induced senescence. Increased resistance to oxidative stress
Loss of FrmA leads to increased cell-cell adhesion and results in impaired multi-cellular development, slug migration and fruiting bodies. Mutants show increased adhesion because of an increased number, persistence and mislocalization of paxillin rich cell-substrate adhesions, which is associated with decreased motility. FrmA null cells are unable to efficiently sort to the apex of mounds and form the organising center known as the tip. They also show a delayed expression of LagC
Knockout mice lacking Plppr4 are viable but show a severe alteration of synaptic transmission leading to juvenile epileptic seizures (PubMed:19766573). Excitatory transmission in CA1 pyramidal neurons is significantly increased (PubMed:19766573). It is associated with transiently reduced weight during development, a reduction in brain size and higher mortality 3 to 4 weeks after birth (PubMed:19766573). Heterozygous knockout mice, show loss of somatosensory filter function and altered resilience during stress-related behaviors (PubMed:26671989)
Increases the periodicity of transcriptional and metabolic oscillation
Does not impair growth on acetate. Disruption together with other acetoin utilization genes acuB and acuC results in poor growth and sporulation on acetoin or butanediol. Triple deletion of acuA, acuC and srtN improves the growth on acetate but it does not reach that of wild-type under low-acetate conditions
Disruption of the gene affects the morphology of the colony and impairs growth in the presence of monoolein. Cells lacking this gene are more sensitive to rifampicin and more resistant to isoniazid
No visible phenotype; growth, bacterial fitness in competition experiments, RNAP distribution, global transcript levels and transcription initiation in vitro are all unaffected
Cells grow more slowly, are rounder with less elongation, form short chains
Greatly increased sensitivity to MMS, decreased bacterial load in BALB/c mice, but bacteria still persist 100 days after peritoneal injection (PubMed:8321120). Increased sensitivity to UV light (but considerably less than expected compared to E.coli), hypersensitivity to MMS, slightly increased sensitivity to H(2)O(2). Loss of mitomycin C-induced expression from a recA promoter. 4-fold less survival in mouse macrophages, where the bacteria has to survive an extremely hostile environment (PubMed:16816190)
Essential. In depletion experiments, individual cells are elongated and/or filamented, with diminished septum formation and aberrant septal placement. The septa that do form may be immature as cytokinesis does not occur. Has no effect on FtsZ accumulation. Cells are less viable, colonies are smaller and the mutant is non-acid-fast under conditions of acetamide withdrawal
Mice are viable and healthy for up to 15 months. However, they have reduced number of mast cells and develop osteopetrosis
Deficient mice develop severe early-onset retinal degeneration associated with a disorganized outer segment, progressive thinning of the outer nuclear layer, microglia activation and non-responsive to light by 8 weeks of age
Aabolishes the production of all pyranonigrins
Cells grow more slowly under optimal conditions, and much mre slowly at 42 degrees Celsius
Z(-)/z(-) mice lacking the 'z' insert are stillborn or die immediately after birth. They did not inflate their lungs and were never seen to move spontaneously. An intramuscular nerve is formed and axons leave the nerve and branch but do not stop and arborize. AChR clusters were fewer in number, about 30% smaller in size and lower in density. Transgenic null (Tg/Agrn -/-) mice, exhibit atrophied muscle due to denervation and are smaller than normal littermates. There is impairment of locomotory behavior and half the mice die after 50 days. There is a greatly reduced number of synapses and about 30% loss of postsynaptic spines and a decrease in the length of dendrites in cortical neurons
Sterile phenotype due to male meiosis arrested at leptotene
Morpholino knockdown of the protein causes inhibition of primary neurogenesis (PubMed:29518376)
Mutant animals are largely resistant to LPS-induced lethal septic shock (PubMed:22002608, PubMed:26375259). However, they are susceptible to Burkholderia thailandensis infection, even at low bacterial doses (PubMed:26320999). During intestinal Salmonella Typhimurium infection, mutant animals display higher pathogen loads in their cecal tissues and lumen and lower levels of IL18 in cecal explants, associated with a significant reduction in cecal inflammation (PubMed:25121752). Bone-marrow-derived macrophages from knockout mice respond normally, in terms of IL1B secretion, to canonical inflammasome activators, such as ATP, monosodium urate, poly(dA:dT) double-stranded DNA, Francisella tularensis, flagellin or Pseudomonas aeruginosa, but fail to secrete IL1B in response to cholera enterotoxin subunit B. They also do not respond to live E.coli, C.rodentium and V.cholerae, with or without LPS priming (PubMed:22002608)
Dysmotile olfactory pit cilia which have a normal beat frequency but an ineffective circular beat pattern. Effect can be rescued by coinjection of mouse Rsph9 mRNA (PubMed:19200523). Embryos with CRISPR-induced rsph9 null mutations exhibit a greatly diminished olfactory and neural ciliary motility, structural defects in neural and pronephric ciliary axonemes and an impaired initiation of startle response to acoustic stimulation (PubMed:27687975)
Cells lacking this gene are blocked in the arginine deiminase pathway
Mice have lethal defects in neuronal development, including defects in activity-dependent dendritic outgrowth
Null cells show a 50% decrease of the CMF binding and a loss of CMF-induced G protein-independent gene expression
Significant increased of early and late apoptotic host cells including infected epithelial cells or dendritic cells
Deficient mice fail to develop peripheral tolerance after inoculation with antigen because of a lack of efferent regulatory T-cell development
Disruption of fadD22 abolishes the production of PPOL
Disrupted normal fertilization by sperm; sensitivity to sperm concentration and the time required to fertilize an egg is increased; the number of spermatozoa bound to zona pellucida is decreased
Loss-of-function mutation results in the arrest of root hair growth
Releases increased amounts of acetaldehyde when grown on propanediol (PubMed:16585748). Half the cells seem to form BMC aggregates with visible shells, the other half have no BMCs. Grows normally on 1,2-PD and vitamin B12 (PubMed:21239588). A double pduJ-pduK strain grows in an interrupted manner on 1,2-PD and vitamin B12; grows for a while then stops, then restarts as toxic propionaldehyde accumulates and then decreases (PubMed:18296526)
Cells have a nucleus that is cleaved by the septum or the septum divides the cell into a nucleate and anucleate compartment
Flies exhibit muscle degeneration and lethality. Flies that have reduced expression of all isoforms (due to transgenic RNA interference targeting the common C-terminal region) exhibit severe muscle degeneration in larvae and adult flies. Muscles were either ruptured, absent or the fibers were detached from their attachment sites at tendon cells. These are necrotic, not apoptotic processes
Vps25 mutant cells exhibit multivesicular body sorting defects, with large amounts of ubiquitinated proteins detected on endosomes. This leads to activation of signals (through Notch and Dpp receptors) that drive cell proliferation, non-autonomous overgrowth, loss of epithelial organization, and render cells sensitive to apoptosis. Vps25 mutant cells display accumulation of autophagosomes. Bicoid mRNA is mislocalized in developing eggs
Conditional RNAi-mediated knockdown in the eye results in aberrant compound eye morphogenesis (PubMed:21976699). Maternal RNAi-mediated knockdown results in abnormal aggregation of Golgi apparatus and disrupted cleavage furrow ingression in early embryos (PubMed:27535433)
Cells lacking this gene have a 5-fold increased spontaneous mutation frequency. A triple MutS/MutL/nth disruption has a 280-fold increased spontaneous mutation frequency
No visible phenotype. Higher nitrate concentration in xylem sap and increased cadmium sensitivity. A greater proportion of nitrate accumulates in shoots under cadmium stress
Large, dark green rosette leaves, delayed flowering, thick and long inflorescence, abnormal flower morphology and sterility in early formed flowers, but fertility in late-formed flowers. Delayed senescence and abscission. Increased seed size and weight, and extra cell division and expansion in many organs
Increased susceptibility to A.brassicicola infection
Little effect on miRNAs levels (PubMed:28463111). Plants lacking both RICE1 and RICE2 have reduced miRNAs levels and lower miRNA retained by AGO1, thus leading to the up-regulation of targeted mRNA transcripts (PubMed:28463111)
RNAi-mediated knockdown abolishes recruitment of microtubule end-binding protein EB1/ebp-2 to a wound site (PubMed:31995031). Almost completely abolishes induction of nlp-29 expression upon infection with Drechmeria coniospora (PubMed:31995031)
Deletion mutant does not exhibit a low iron growth phenotype, but has attenuated virulence compared to the wild-type strain. Deletion of both mmpS4 and mmpS5 drastically decreases synthesis and secretion of siderophores, and greatly reduces virulence in mice
Completely abolishes the production of asperphenamate and leads to the accumulation of N-benzoylphenylalaninol
Inactivation of the gene renders the cells hypersensitive to a wide range of stress conditions including high and low temperature, high osmolarity and hydrogen peroxide (PubMed:16788195). Inactivation also enhances biofilm formation (PubMed:16788195)
Abolishes the production of piperazines and suppresses the formation of sclerotia when lnbA is also disrupted
Defective cuticle phenotypes leading to curly flag leaves and organ fusion (PubMed:21954461). The double mutant pdf2-1 hdg1-1 exhibits abnormal flowers with sepaloid petals and carpelloid stamens in association with a reduced expression of APETALA 3 (AP3) in the epidermis and internal cell layers of developing flowers (PubMed:23590515). Increased cell division leading to cell overproliferation (PubMed:25564655)
Displays resistance to rice yellow mottle virus (RYMV) infection
Deletion of mpn1 decreases cell population growth at low temperature and leads to a generalized pre-mRNA splicing defect, decrease of mature U6 snRNA levels, abnormal U6 snRNA 3'-end processing, decrease levels of U4/U6 di-snRNPs
A single rdlA mutant does not form the rodlet layer on spore cell walls; disruption can be complemented by rdlA from S.tendae or S.griseus but not by any rdlB. Decreased levels of rdlB mRNA (PubMed:15228525). A double rdlA-rdlB deletion shows no effect on spore germination, growth rates, differentiation of aerial hyphae into spores or surface hydrophobicity on a number of media, but spore surface rodlets are missing and cells adhere less strongly to a polysytrene surface (PubMed:12067338). In the double rdlA-rdlB mutant chaplin proteins are still correctly localized to the cell wall of aerial hyphae (PubMed:12832396). In the double rdlA-rdlB mutant aerial hyphae development is strongly delayed under high osmolarity (10.3% sucrose or 0.5 M KCl) (PubMed:22309453)
Very low NADH-dependent hydroxypyruvate reductase activity in leaves. Under short days, slower growth and delayed bolting. Slight accumulation of metabolites with long turnover half-times that become dissimilated during the dark. Perturbated photorespiration-related gas exchange. When associated with HPR2 disruption, strong air-sensitivity and dramatic reduction in photosynthetic performance
Required for efficient BMC formation; when deleted from an artificial operon (Hoch_5815, Hoch_5812, Hoch_3341, Hoch_5816, Hoch_4425, Hoch_4426, Hoch_5814) being expressed in E.coli, a >10-fold decrease in BMC shells is seen
Long-term depletion of PKH2 in a PKH1 null mutant (Pkh depletion) induces programmed cell death. This is mediated by the lack of Pkh-dependent activation of the PKC1 downstream signaling cascade and results in accumulation of reactive oxigen species (ROS) and DNA fragmentation
RNAi-mediated knockdown causes embryonic lethality (PubMed:16785323). Causes defects in alae formation in the few surviving larvae and impairs yolk uptake by the oocytes from the pseudoceolomic cavities (PubMed:16785323). Causes an increase in the section of the excretory canal, which often has multiple lumens and abnormal whorls (PubMed:16785323)
RNAi-mediated knockdown causes a reduction in adult body length and width and a reduction in adult lifespan. The cuticle displays several defects including disruption of the lateral cuticle overlying the seam cells, abnormal constriction of the annuli, discontinuous alae and mislocalization of collagen col-19 positive fibrils. Prevents the up-regulation of a transcriptional reporter of the TGF beta-like dbl-1 pathway, RAD-SMAD
Reults in the formation of more traps in the presence of nematodes and an increased sensitivity to certain nitrogen sources as trap inducers (PubMed:25724687). Lacks cell surface adhesive materials and leads to more porous cell wall structures (PubMed:25724687). Affects the expression of many nitrogen metabolism, host-pathogen interaction and mycelia development related genes during sodium nitrate-induced trap formation (PubMed:25724687)
Deletion of 15 genes (from psrP, SP_1772 to SP_1756, includes the accessory Sec export proteins SecA2 and SecY2) and infection of female BALB/cJ mice, shows the psrP-secY2A2 region is required for lung infection and for infection to progress to blood. Mice infected intraperitoneally showed wild-type infection. Decreased adherence to lung but not pharynx or brain cells. The psrP-secY2A2 region deletion has no effect on bacterial growth rate, capsule levels, autolysis, or transformation (PubMed:18507531). In vitro significantly decreased biofilm formation is seen; the large deletion mutant (SP_1772 to SP_1756) is no more affected than the single psrP deletion (PubMed:20714350)
No observed growth phenotype (PubMed:9068658). Increased levels of degP and rpoH transcription; may induce the sigma factor E regulon (rpoE) (PubMed:10972835). Loss of about 50% of periplasmic alkaline phosphatase activity; very sensitive to tannic acid (PubMed:21317898)
Results in enhances preference and sensitivity to alcohol (PubMed:28607459). Fails to develop tolerance to repeated ethanol exposures (PubMed:28607459). Conditional RNAi-mediated knockdown in the eye results in aberrant compound eye morphogenesis, with defective cell intercalation patterns associated with altered actin dynamics (PubMed:21976699)
Embryos display defects such as small head, small eyes and dorsally bent body
Viable but sterile, with reversion of cytokinesis during early embryogenesis
Grows as well as wild-type in culture and in macrophages, double pdeA-pgpH mutants have slightly defective growth in culture and in macrophages. Single mutant secretes 2-fold more c-di-AMP, double mutant secretes about 4-fold more. Single mutant induces wild-type interferon-beta (IFN-beta) transcription by macrophages, double pdeA-pgpH mutants induces about 10-fold more IFN-beta. Double mutant is 10(3)-fold less virulent in mice, suggesting increased bacterial c-di-AMP is detrimental to growth within the host
Deletion of the gene does not impact in vitro growth, but it leads to aberrations in the cell length. Deletion enhances sensitivity to nisin and vancomycin. Also exhibits hypersensitivity to moenomycin. Mutant shows compromised bacterial virulence in the host
Severely reduced response to acetic and propionic acid
Leads to the formation of thicker hyphae, which appear less elongated and form more branched hyphae (PubMed:17981060, PubMed:19715768). Increases sensitivity to diamide and menadione but shows increased tolerance against H(2)O(2) (PubMed:17981060). Results also in increased sensitivity to cell wall integrity inhibitors such as glucanex, SDS, congo red and calcofluor white (PubMed:19715768). Affects the expression of genes involved in cell wall remodeling, protection against ROS, secondary metabolism such as gliotoxin, pyomelanin and pseurotin A, as well as genes involved in siderophore biosynthesis (PubMed:21883519). Affects also the expression of fumiquinazoline C biosynthesis cluster genes (PubMed:33705521). Does not affect the formation of conidiophores and conidia, nor the germination of aconidia (PubMed:17981060). Does not affect the virulence in a low dose murine infection model (PubMed:17981060)
Cells lacking this gene are unable to use N-acetylcadaverine as sole carbon source for growth, and display an elongated lag-phase of approximately 6 hours before growing on N-acetylputrescine. The deletion mutant strain exhibits only marginal changes in biofilm biomass in comparison to the wild-type
Deletion mutant is sensitive to multiple beta-lactams, including cefsulodin. It leads to defects in outer membrane integrity, envelope defects and elevated cell lysis
Can grow only in vitro on sucrose-containing medium under low light conditions. Mutant plants show a pale-green phenotype, very slow growth and delayed development
Homozygous mutants display growth retardation and dy as larvae and show defects in ovarian follicle cells, which enwrap the germ cell clusters in ovarioles
No visible phenotype. Exhibits hyposensitive response to abscisic acid (ABA) with defects in stomata closure, and a decreased tolerance to salt stress
Inactivation of the gene abolishes sibiromycin production
TORC1 abnormally activated in presence of rapamycin
Mice have a spectrum of laterality defects, including complex congenital heart defects associated with heterotaxy, and airway epithelia show largely immotile cilia with loss of the outer dynein arms
Loss of cADPR and NAADP synthesis
Infection with phage DMS3 inhibits biofilm formation; disrupting this gene restores biofilm formation despite DMS3 infection. Normal biofilm formation in the absence of phage infection. Loss of production of crRNA in the presence or absence of phage. Disruption of the entire Y.pestis-subtype CRISPR region disrupts crRNA production but does not alter phage resistance (possibly OLNs PA14_33350 to PA14_33310, plus the flanking CRISPR loci), indicating this CRISPR is not involved in phage resistance
Severe chlorotic phenotype during early leaf development
Drastically altered morphogenesis, growth and development, including severe dwarfism, lancet-shaped leaves, early senescence and flower sterility. Strongly modified carbohydrate metabolism leading to increased accumulation of endogenous sugars (e.g. trehalose, trehalose-6-phosphate and starch). Ethylene over-production. Up-regulation of genes involved in sugar metabolism, senescence, ethylene biosynthesis and abiotic stress. In light, hypersensitivity to sucrose and glucose during vegetative growth, with partial phenotypic reversion in the presence of high sorbitol concentrations. Altered sugar-mediated hypocotyl elongation response in the dark
Abolishes the retinal photoreceptor layer, outer nuclear layer, and outer plexiform layer in the retinal ultrastructure (PubMed:30240620). Loss of Opn1sw, Opn1mw and Rho expression in the retina (PubMed:30240620). Reduced rate of circadian photoentrainment, UVA and orange light-induced phase-shift response and Fos expression in the suprachiasmatic nuclei (SCN) in the brain (PubMed:30240620). Pde6b and Opn5 double knockout mice also show loss of retinal ultrastructures and a more severe reduction in the rate of circadian photoentrainment, light-induced phase-shift response and Fos expression in the SCN (PubMed:30240620)
16% embryonic lethality, reduced egg laying and a 0.9% increase in the number of male progeny (PubMed:23363597). Delayed progression of meiosis, which most likely results from defective disassembly of synaptonemal complex proteins, and defective chromosome structure, alignment and condensation (PubMed:23363597). RNAi-mediated knockdown results in reduced expression of the nlp-29 antimicrobial peptide following fungal infection by D.coniospora (PubMed:30036395). Worms show reduced body size and muscle function (PubMed:31767636). Worms lacking both akir-1 and ima-2 show reduced gonad size and aberrant diakinesis oocyte formation; defects are caused by impaired meiotic recombination (PubMed:30563860)
Decreases cell fitness. Causes severe growth defects and an overload of polyubiquitinated conjugates when associated with a RPT6 thermosensitive proteasome mutant
Deletion decreases hemagglutination but no decrease in fimbriation levels
Disruption mutant cannot degrade 2,4,6-TCP (PubMed:12057943, PubMed:17322325). Inactivation completely prevents removal of the chlorophenol (PubMed:17322325)
Nearly abolishes the transcription of FMAN_15221 to FMAN_15223 under PKS8-inducing condition
Not essential, cells do not produce indole
Egg chambers contain 16 polyploid nurse cells because the oocyte enters the endocycle and develops as a polyploid nurse cell
Worms exhibit defects in excretory cell development and axonal migration
Impairs production of beauvericin and attenuates virulence during infection of tomato plants (PubMed:23106229). Impairs also growth on the non-preferred nitrogen sources nitrate and nitrite (PubMed:24240057)
Lower maximum photochemical efficiency of photosystem II after high-light treatment
Knockout mice are born at the expected Mendelian rate (PubMed:16605240). White adipose-tissue specific knockdown (effective when differentiation of adipose tissue is complete) causes obesity, adipose tissue inflammation, insulin resistance in the liver and profound changes of gut microbiota composition
Defects in efflux of the auxin precursor indole-3-butyric acid (IBA) associated with developmental defects such as abnormally long root hairs, increased lateral root production and larger cotyledon expansion (PubMed:19648296, PubMed:20498067). Reduced thymidine and coumarin (e.g. scopolin) exudation in the rhizosphere (PubMed:28623273). Overaccumulation in leaves of 4-O-beta-D-glucosyl-indol-3-yl formamide (4OGlcI3F) upon Blumeria graminis conidiospore inoculation, a pathogen-inducible tryptophan-derived compound, which biosynthesis is dependent on the PEN2 metabolic pathway (PubMed:26023163). Reduced shoot fresh weight (PubMed:20088904). Less sensitive to compatible pathogens (Pseudomonas syringae pv tomato) due to accelerated cell death and lesion formation (PubMed:16415066, PubMed:16473969). Decreased hypersensitive cell death (HR) triggered by the recognition of effectors from oomycete and bacterial pathogens, thus leading to a compromised resistance to incompatible pathogen (e.g. P.syringae pv. tomato DC3000 and Hyaloperonospora arabidopsidis) (PubMed:23815470, PubMed:24889055). Increased susceptibility to the necrotrophic pathogen Plectosphaerella cucumerina (PubMed:26023163). Increased sensitivity to the root-penetrating pathogenic fungus Fusarium oxysporum (PubMed:29085068). Extensive leaf chlorosis and reduced fungal growth upon infection by the host-adapted pathogen Golovinomyces orontii associated with an hyperaccumulation of both free and total salicylic acid (SA) as well as pathogen-inducible hydrogen peroxides in leaves (PubMed:26023163). Impaired microbe-associated molecular patterns (MAMPs)-induced (e.g. flg22) callose deposition (PubMed:26023163). Hypersensitivity to root growth inhibition by IBA and 2,4-dichlorophenoxybutyric acid (2,4-DB), an analog of IBA (PubMed:19648296, PubMed:26023163, PubMed:20498067). Higher sensitivity to drought stress (PubMed:20088904). Increased sensitivity to the non adapted fungal pathogen Colletotrichum gloeosporioides and to powdery mildews (e.g. Blumeria graminis and Erysiphe pisi) probably due to the reduction of preinvasion plant defenses upon appressoria formation and leading to lesions at infection sites (PubMed:20605856, PubMed:26023163)
Infertility. Males exhibit testicular hypoplasia with lack of spermatozoa. Spermatocytes arrest at the stage of pachytene-like chromosome condensation and spermatogenesis is blocked at prophase of meiosis I. Axial elements are fully developed, but synapsis is limited. While meiotic double-stranded breaks are formed and processed, they fail to be repaired
Fish display a lack of tubulin polyglutamylation and cilia formation in olfactory placodes
Deletion of the gene leads to defects in phenolic glycolipids (PGL) and phthiocerol dimycocerosates (PDIM) production
Cells lacking this gene show normal growth on inosine as the purine source, normal hypoxanthine-guanine phosphoribosyltransferase activity, and are resistant to azaguanine
Mutants retain surface pili but have lost twitching motility (PubMed:15629932). In a mouse model of acute pneumonia, a decreased colonization of the liver is observed but not of the lung relative to the parental strain (PubMed:10377148)
No visible phenotype; due to redundancy with ICMTB. Icmta and icmtb double mutants have altered phyllotaxis, fasciated stems and development of axillary flowers
RNAi-mediated knockdown causes embryonic lethality. Embryos have impaired cleavage after fertilization and a failure to form a functional paternal microtubule-organizing center (MTOC). Due to a lack of cytokinesis, embryos become multinucleated
Down-regulation of M1 macrophage marker genes, including Il12a, Il12b, Cxcl9, Cxcl10, Cxcl11, Hif1a and Il23a, and up-regulation of M2 marker genes, including Arg1, Ym1, Msr1 and Ccl17, in M1 macrophages. In bone marrow derived macrophages, impaired induction of M1 macrophage marker gene expression and impaired phosphorylation and nuclear localization of Rela/p65 and Stat1 after LPS and IFNG stimulation and enhanced M2 macrophage marker gene expression after Il4 stimulation. Reduced number of MHC class II- and F4/80-expressing cells within the population of M1 marker-expressing macrophages
Cells lacking this gene lack cytoplasmic fumarate reductase activity, while retaining this activity in the membrane fraction
RNAi-mediated knockdown in the heart of P10 neonatal mice causes lethal cardiac dysfunction at 4 weeks (PubMed:19665976). Myocardium is disorganized with greater fibrotic regions with significant collagen deposition in the ventricular myocardium (PubMed:19665976). Mice show significant myocardial dilatation and cardiac contractile dysfunction (PubMed:19665976). Also, sarcomere organization is disordered and the sarcoplasmic reticulum membrane forms vacuoles (PubMed:19665976). Myocardium has elevated expression levels of ER stress marker Hspa5/Grp78, cleaved Casp12, Rtn4, Atl3 and Ckap4 (PubMed:19665976)
Totally abolishes the production of pestheic acid but does not affect the production iso-A82775C, another precursor of chloropupukeananes (PubMed:24302702)
Most mice do not survive beyond 16 months (PubMed:20110363). Ceramide and downstream sphingolipids are devoid of very long (C22-C24) acyl chains (PubMed:20110363). Total glycerophospholipid and cholesterol levels are unaltered, while a marked increase in C18:1 and C18:2 fatty acids in phosphatidylethanolamine, concomitant with a reduction in C18:0 and C20:4 fatty acids are observed (PubMed:20110363). Membranes display higher membrane fluidity and show morphological changes (PubMed:20110363). Mutant mice show signs of neurodegeneration characterized by the loss of myelin sheath structure stability and formation of numerous small cysts in the cerebellum. They develop hepatocarcinomas between 7 and 9 months of age
Impairs the formation of autophagosomes (PubMed:28704456). Completely blocks the movement of the ER-staining dye R18 from the ER to IM precursors (PubMed:28704456)
Lacks conidiophores and produces macroconidia at low frequencies only from intercalary phialides (PubMed:15590816). Produces markedly fewer macroconidia and microconidia in infected plants but does not affect the disease-causing ability (PubMed:15590816)
Leads to he dissociation of the cortical endoplasmic reticulum (ER) from the cell periphery and its accumulation in the cytoplasm, in particular in the vicinity of cell tips; when scs2 is also deleted (PubMed:23041194, PubMed:26877082, PubMed:29290560, PubMed:32023460). Affects contractile ring assembly and displays severe cytokinetic defects; when scs2 is also deleted (PubMed:26877082)
Accumulation of siRNAs and slight reductions of repressive epigenetic modifications (e.g. decreases in DNA methylation and H3K9me2 and increase in H3ac) at target sequences, especially in the shoot apical meristem after rosette leaves development, leading to derepression of silenced-genes (PubMed:22560611, PubMed:23675613). Stochastic silencing phenotype due to randomized RNA-directed DNA methylation (RdDM) (PubMed:23675613). Impaired gene silencing due to decondensation of chromocenters leading to the derepression of DNA-methylated genes and transposable elements (TEs); DNA and histone methylation seems normal (PubMed:22555433, PubMed:24799676, PubMed:27171427)
The isolated apoplastic sap extracted from the double mutant missing both NSH3 and ENT3 lacks the ability to catalyze the conversion of inosine in hypoxanthine; this double mutant is unable to grow on medium containing inosine as sole nitrogen source, in addition plants are more sensitive to the necrotrophic fungus Botrytis cinerea BMM but are resistant to the cytotoxic adenosine analog 2-chloro-adenosine (CADO) and to 5-fluoro-uridine
RNAi-mediated knockdown reduces the number of cgh-1-positive foci in somatic blastomeres
No visible phenotype under normal growth conditions, but mutant plant accumulate homoserine and show reduced susceptibility to the downy mildew pathogen Hyaloperonospora parasitica
No effect on protein secretion by the type III secretion system (TTSS) encoded in the locus of effacement (LEE)
Overall loss in complex colony architecture and lack of fruiting body-like structures (PubMed:18978066). Disruption of the gene results in the loss of surface repellency and alters the biofilm surface microstructure (PubMed:22571672)
Deletion of the gene completely impairs growth on DTDP or 3-sulfinopropanoyl (3SP) as the sole carbon source
Shows growth defects in acetate-supplemented medium; the phenotype is enhanced by addition of hydrogen peroxide (increased oxidative stress) and/or double knockout of ZWF1 and YHM2 (PubMed:20371607). Decreases the cytosolic NADPH/NADP(+) ratio; this effect is enhanced in the presence of hydrogen peroxide (PubMed:20371607). Ribitol-5P absent from cell (PubMed:30240188). Decreases cellular levels of ribose-5P and ribulose-5P (PubMed:30240188). Decreases cytosolic levels of citrate and oxoglutarate in the presence of hydrogen peroxide (PubMed:20371607). Double knockouts of ZWF1 and YHM2 show an increased mitochondrial NADPH/NADP(+) ratio in the presence of hydrogen peroxide (PubMed:20371607). Reactive oxygen species (ROS) levels are moderately increased following hydrogen peroxide treatment; in double knockouts of YHM2 and ZWF1 there is a larger increase (PubMed:20371607)
Disruption of stkP gene results in strong repression of competence development for genetic transformation in vitro. Strains D39 (serotype 2) and 23477 (serotype 6) lacking this gene show a greatly attenuated virulence in lung infection and bloodstream invasion in mice, but no in vitro growth defect
Not resistant to the microtubule depolymerizing drug thiabendazole (TBZ). DNA damage sensitive in response to ionizing radiation (IR), ultraviolet (UV), hydroxyurea (HU) and camptothecin (CPT)
No visible phenotype (PubMed:19367338). Mutant sensory neurons show no decrease of the inhibition of neurite outgrowth by MAG (PubMed:19367338). Compared to wild-type littermates, cultured hippocampus neurons from mutant mice display an increased number of excitatory synapses (PubMed:22325200). Likewise, mice lacking both Rtn4r and Rtn4rl2 display no visible phenotype (PubMed:19367338). Sensory neurons from mice lacking both Rtn4r and Rtn4rl2 show moderately decreased inhibition of neurite outgrowth by MAG (PubMed:19367338). Mice with a triple gene disruption that lack Rtn4r, Rtn4rl1 and Rtn4rl2 have no visible phenotype, are healthy and viable (PubMed:22406547, PubMed:22325200). Mice with a triple gene disruption that lack Rtn4r, Rtn4rl1 and Rtn4rl2 have normal brain size and grossly normal brain anatomy, but display disruption of medial brain structures, including an absence of the fasciola cinereum, corpus callosum agenesis and formation of bilateral Probst bundles indicative of the failure of callosally projecting neurons to extend across the midline (PubMed:27339102). Mice with a triple gene disruption of Rtn4r, Rtn4rl1 and Rtn4rl2 display impaired ability to stay on a rotarod and increased spontaneous locomotion (PubMed:27339102). These mice display an increased number of excitatory synapses in the apical dendritic regions of hippocampus neurons, an increase in the complexity of dendrite structure and increased total dendrite length (PubMed:22325200). One month after birth, mice with a triple gene disruption that lack Rtn4r, Rtn4rl1 and Rtn4rl2 show a significant reduction in the survival of motoneurons (PubMed:26335717). Compared to wild-type or single mutants, cerebellar granule cells from mice lacking Rtn4r, Rtn4rl1 and Rtn4rl2 show decreased myelin-mediated inhibition of neurite outgrowth, an inhibition that is strongly decreased on myelin deficient in Mag, Rtn4 and Omg (PubMed:22406547). Mice lacking both Rtn4r and Rtn4rl1 show increased axon regeneration after injury; the same effect is observed when Rtn4r, Rtn4rl1 and Rtn4rl2 are disrupted (PubMed:22406547). Combined disruption of Rtn4r, Rtn4rl1 and Ptprs further increases axon regeneration after injury (PubMed:22406547). Single gene disruption of Rtn4r, Rtn4rl1 and Rtn4rl2 and combined disruption of Rtn4r and Rtn4rl2 have no effect on axon regeneration (PubMed:22406547)
Decreased of mannosyl levels due to a reduction of glucomannan content
Abnormal glucose tolerance predominantly due to defective glucose-stimulated insulin secretion (PubMed:16024793). Mice also show defects in prostate ductal morphogenesis and secretory protein expression (PubMed:18816836)
Deficient mice are viable and fertile without any overt phenotypical or histological alterations. However, mice exhibit increased blood urea nitrogen, increased circulating creatinine, and abnormal metformin pharmacokinetics, including increased plasma and tissue metformin concentration with decreased kidney and liver metformin clearance
Essential for growth, it cannot be disrupted. It can be disrupted in a relA deletion strain (relA phosphorylates GTP to ppGpp)
Disturbed microtubule organization. Lethal embryos that consist of one or a few grossly enlarged cells that lack microtubules but not actin filaments. Failure to localize KNOLLE in mitotic cells. Cortical microtubules-free interphase cells and mitotic nuclei missing spindles. Reduced trichome size with fewer branches
Increased rosette leaves number with a curly surface leaf morphology and delayed flowering
Results in splitting or branching of epidermal hairs, supernumerary terminal branching and defective dendritic tiling (PubMed:11102376, PubMed:15479641). RNAi-mediated knockdown in neurons increases dendrite length of sensory neurons (PubMed:32022690)
Male sterile. Defective pollen wall pattern formation at early tetrad stage; delayed and reduced primexine deposition, as well as abnormal rippling of the plasma membrane and no production of spacers. Random sporopollenin deposition on the plasma membrane along the microspore wall
Single gene deletion does not form carboxysomes, and does not grow in normal air but in 2% CO(2), called a high-CO(2) requiring phenotype, HCR
At 5 dpf, knockdown results in significantly reduced auditory startle response to white noise at 600 and 800 Hz. Mutants have less developed vestibuloacoustic neurons innervating the ear bases, less organized and fewer statoacoustic neurons, show a significant delay in the development of primary motor neurons and are smaller than the wild-type counterpart
Ectopic growth in filaments and petals, distortion of integument planar growth and aberrant embryogenesis and partial lethality in ucn-1 embryos. The double mutants ucn-2 and ucnl-5 are embryonic lethal
No visible phenotype, due to the redundancy with STL1. Stl1 and stl2 double mutants are impaired in cellulose production and exhibit a stunted growth
Loss of H(2) production on minimal glucose, complex glucose and complex formate medium. Alters production of organic acids when grown on minimal glucose medium. This phenotype was not complemented by reintroduction of the ypdJ gene
Cells lacking this gene produce lowered levels of both L-propargylglycine and L-beta-ethynylserine, that are terminal alkyne-containing amino acids produced by wild-type S.cattleya
Null mice present with a phenotype resembling human microphthalmia with limb anomalies. The phenotype includes aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs. A thinned and irregular ganglion cell layer and atrophy of the anteroventral part of the retina is observed
Absence of ExsD leads to transcription of the type III secretion system (T3SS) regulon derepression
Mutants are bent and twisted at irregular angles (PubMed:11290328). Depletion leads to a strong defect in chromosome segregation (PubMed:14588250)
Reduces growth under iron limitation and increases sensitivity to hydrogen peroxide (PubMed:28367141). Decreases intracellular ferricrocin level under iron limitation (PubMed:28367141). Leads to increased abundance of siderophore biosynthetic enzymes and of hapX (PubMed:28367141). Finally, decreases the virulence in the Galleria mellonella animal model system (PubMed:28367141)
Cells lacking this gene are unable to transport mannosyl-D-glycerate
Impairs expression of hypha-specific transcripts and leads to a medium-specific impairment in hyphal development
Complete perinatal lethality, due to paralysis and inability to breathe (PubMed:23626854, PubMed:23818578). Embryos have a curved body with abnormal curvature of the vertebral spine and drooping forelimbs (PubMed:23626854, PubMed:23818578). They display multiple skeletal abnormalities involving ribs, sternum and costal cartilage, and strongly reduced formation of bone ridges at major muscle attachment sites (PubMed:23818578). They weigh about 15% less than wild-type at 18.5 dpc (PubMed:23626854). They do not move or respond to touch, but have a beating heart when dissected out of the uterus (PubMed:23626854). Their myofibers have altered morphology with centrally located nuclei, unlike wild-type, where the nuclei are located in the periphery of the myofibers (PubMed:23626854, PubMed:23818578). Sarcomeres have streaming Z-lines (PubMed:23626854). The diaphragm does not contract in response to membrane depolarization or electric stimulation (PubMed:23818578). Myotubes from mutant mice lack voltage-induced calcium release from the sarcoplasmic reticulum (PubMed:23818578)
Cells lacking this gene show a strong reduction in the growth rate on ethanol, however growth on 1-butanol or 1,2-propanediol is not influenced
RNAi-mediated knock down in procyclic and blood stream forms (strain 29-13) impairs growth following prolonged exposure to oxidative stress
Embryonic lethality (PubMed:17418408). Conditional deletion in the kidney leads to the development of renal cysts, reminiscent of hereditary leiomyomatosis and renal cell cancer (HLRCC) phenotype in human (PubMed:17418408). Renal cysts are caused by accumulation of fumarate that promotes the formation of non-enzymatic post-translational modification cysteine S-succination (S-(2-succinyl)cysteine) on proteins, such as Keap1 (PubMed:22014577)
Essential it cannot be deleted. In depletion experiments increasing amounts of phosphatidyl-myo-inositol (PI) and decreasing amounts of acylated PI mannosides (AcPIM), as well as decreased synthesis of lipomannan (LM) but not lipoarabinomannan (LAM) are observed
RNAi-mediated knock-down is mostly embryonic lethal (PubMed:23691084). Embryogenesis proceeds more slowly and embryos are osmo-sensitive (PubMed:23691084). RNAi-mediated knockdown reduces lifespan (PubMed:36173858)
Several abnormal phenotypes in the vegetative and reproductive phases including short plastochron, late flowering, small panicles, reduced meristems size, aberrant floral organ identities and loss of floral meristem determinacy (PubMed:21910771). Reduced panicles size is associated with reduced number of primary branches due to the precocious formation of spikelet meristems (PubMed:21910771)
Cannot be disrupted, suggesting it is a functional antitoxin. No visible phenotype when the parDE3 operon is deleted
Developmental defects in the gonad, germline, male tail and hermaphrodite vulva (PubMed:15238519). Increased number of germ cells arrested at the metaphase stage of mitosis during the larval stage L4; by adulthood, there are no nuclei in the distal part of the gonad and as a result, no sperm or oocytes are formed (PubMed:15238519). RNAi-mediated knockdown results in defective metaphase to anaphase transition (Mat phenotype) and embryos that arrest at the one-cell stage that display defects in the formation of the anterior-posterior axis (PubMed:11861581, PubMed:11832245)
Plants lacking ICMTA and ICMTB have altered phyllotaxis, fasciated stems and development of axillary flowers
Slight dwarf phenotype and erect leaves (PubMed:16369540). Impaired response to auxin leading to reduced epidermal cells length of the lamina joint (PubMed:19605414)
Cells produce only the non-phosphorylated variants CDA3b and CDA4b, while S.coelicolor strain A3(2) / 2377 produces D-3-phosphohydroxyasparagine-containing peptide CDA2b as the major product, along with a minor amount of D-3-hydroxyasparagine variants CDA4b and CDA3b
Mice show progressive loss of spermatogonia and male infertility (PubMed:10369865, PubMed:25503965). Spermatogenesis is blocked early in meiosis I (PubMed:10369865, PubMed:25503965). Male germ cells show derepression of transposable elements (TEs) and DNA hypomethylation of TEs (PubMed:25503965). Mice display increased depressive-like behavior whereas no behavioral abnormalities regarding locomotor activity or anxiety-like behavior are detectable and BDNF levels in the hippocampus are up-regulated (PubMed:26275923)
No visible phenotype under normal growth conditions, but mutant plants are insensitive to feedback inhibition by tryptophan
No visible phenotype in culture. Grows less well than wild-type in human monocyte-derived macrophages (MDM) over 7 days; increased human monocyte MHC class II expression, decreased interleukin 1-beta secretion from monocytes and MDM (PubMed:16177361). No growth in C57BL/6 mice over 40 days, even in mice lacking gamma interferon (PubMed:17804126)
RNAi-mediated knockdown reduces the expression of pie-1 in P2 blastomeres (PubMed:30279189). Abolishes neg-1 expression in anterior blastomeres (PubMed:26096734). RNAi-mediated knockdown in mex-6 pk440 mutant background causes a loss in plk-1 asymmetric distribution during the first embryonic cell divisions
Enzyme ligase activity totally absent. No effect on growth
Cells lacking this gene are hypersensitive to the antimicrobial peptide wrwycr
Hyposensitivity to the fungal toxin fumonisin B1 (FB1)
Mice breed normally and are fertile. Hematopoiesis at all stages of development is normal and there is no effect on globin gene expression or longevity
Deletion of the gene reduces the efficiency of growth at low concentrations of the aromatic amino acids
Not essential for cell growth
Inactivation of kdpF still leads to a functional KdpABC complex in vivo. Deletion impairs ATPase activity of the complex in vitro
Mutants show impaired utilization of both hypoxanthine and uric acid as nitrogen sources
Disruption abolishes EsxA and EsxB secretion, but not their expression (PubMed:14557536). It results in a lack of antigen specific immunogenicity and leads to attenuated virulence (PubMed:16368961). Mutants exhibit defects in bacterial growth during the acute phase of a mouse infection (PubMed:14557536). No growth in the human macrophage-like cell line THP-1, no cytotoxicity; bacteria grow within cells but do not kill them and do not spread to other host cells (PubMed:14756778)
Deletion results in the concomitant loss of motility, mucin adhesion, and the ability to synthesize flagellin
Homozygous mutants are viable and fertile, but fail to form proper IFMs and are flightless. The IFMs of these mutants display mislocalized Smn and Actn
Homozygous knockout mice lacking Slc31a2 grow normally, with no obvious developmental defects
No visible phenotype under normal growth conditions, but mutant plants exhibit a defect in somatic homologous recombination
Mice postnatally develop hydrocephalus, show impaired mucociliary clearance of the airways and are characterized by male infertility
Leads to increased resistance to UV-killing, derepression of various stress-related genes, hyperfilamentous growth, and overexpression of hypha-specific genes
Response to extracellular ATP remains the same in p2xA null strains. p2xA null cells have been reported to have compromised contractile vacuoles and defective osmoregulation, and exhibit cell swelling (PubMed:17625565). This is contradictory to other reports (PubMed:19833731). Quintuple p2xA/p2xB/p2XC/p2xd/p2xE null cells exhibit a slight delay in their osmoregulatory response, but are ultimately still capable of regulating their cell volume in water. Extracellular purinergic response to ATP persists in the quintuple null cells with no alteration in the kinetics of the response, but the magnitude of the response is lower. Responses to the calmodulin antagonist calmidazolium are reduced and intracellular calcium signaling is disrupted in quintuple null cells. The presence of copper prevents both wild type and quintuple null cells from undergoing an osmoregulatory decrease in cell volume. The quintuple null strains grow slightly slower than wild type in shaking axenic cultures
Abolishes the biosynthesis of communesins A and B and leads to the accumulation of 4-dimethylallyl tryptophan (4-DMAT)
RNAi-mediated knockdown increases lifespan by 17.8%, and reduces tyrosine aminotransferase activity by 75% thus increasing tyrosine levels (PubMed:24385923, PubMed:31043480). RNAi-mediated knockdown delays reproductive adult development in response to oxidative stress induced by the superoxide paraquat (PubMed:31043480). RNAi-mediated knockdown increases dauer formation in eak-4 mg348, eak-3 mg344, eak-5 mg337, eak-2 mg433, or eak-7 tm3188 mutant backgrounds at 25 degrees Celsius (PubMed:24385923). RNAi-mediated knockdown increases aak-2 phosphorylation, but does not impair energy production in a eak-4 mg348 mutant background (PubMed:24385923). RNAi-mediated knockdown results in a reduced lifespan in an aak-2 gt33 mutant background (PubMed:24385923). RNAi-mediated knockdown results in reduced dauer formation in an eak-4 mg348 and aak-2 gt33 mutant background (PubMed:24385923). RNAi-mediated knockdown extends the lifespan of eak-7 tm3188 mutants (PubMed:24385923). RNAi-mediated knockdown together with fah-1 RNAi rescues the impaired growth and fertility defects in the single fah-1 RNAi mutant (PubMed:18227072)
Mice are fertile but display progressive reduction in litter size despite a stable age-independent alteration of the meiotic pause, characterized by premature resumption of meiosis in about one-third of antral follicles in mutant females regardless of age. Aging mutant mice had severe reduction of fertility, manifested by an increasing number of nondeveloping early embryos upon spontaneous ovulation and massive amounts of fragmented oocytes after superovulation
Both daytime and nighttime sleep are severely reduced in both males and females. A small percentage of flies (around 9%) do not sleep at all. A moderate reduction has minimal effects on baseline sleep but markedly reduces the amount of recovery sleep after sleep deprivation. Mutants have impaired Sh-dependent K(+) current
Reduced plant growth. Increase in the size of peroxisomes and decrease in the number of peroxisomes per cell
Leads to reduced sporulation and division of phialides instead of forming a single flask-shaped cell
RNAi-mediated knockdown is larval or pupal lethal. RNAi-mediated knockdown in adults results in reduced expression of the antimicrobial peptide genes DptA and Dro in response to septic injury with Gram-negative bacteria E.coli. Adults infected with the Gram-positive bacteria M.luteus display increased expression of the antimicrobial peptide gene Drs
Abnormally low frequency of progeny
Lesion mimic (spontaneous cell death) phenotype. Expression of defense-related genes and enhanced non-race-specific resistance to rice blast fungus (M.oryzea) and to bacterial blight (X.oryzae pv oryzae). Delay in flowering time under long day (LD) conditions
Decreases alpha-mannosidase resistant glycans
Not able to initiate development when placed in starvation buffer. Defect in ability of cells to aggregate in response to starvation. They were unable to form aggregation centers and streams, possibly because of a defect in cAMP relay signaling
Impairs expression of aflR and sclerotia production (PubMed:19411623, PubMed:23994319). Prevents metabolization of host cell lipid reserves and is inhibited by oleic acid in growth assays (PubMed:19411623). Blocks the production of aflatrem and aflatoxin; and strongly decreases cyclopiazonic acid production (PubMed:16988822, PubMed:17646985). Down-regulates transcription of ps27, a polyketide synthase gene belonging to the asparasone A gene cluster (PubMed:24412484). Down-regulates five genes found within the aflavarin cluster (PubMed:26209694). Results in a reduction in transcription levels of oxidative stress response genes after exposure to hydrogen peroxide (PubMed:24951443). Alters the starch-degradation profile (PubMed:24584515)
Mice are viable and fertile, and show no visible phenotype
Increased methionine sulfoxide content after cold treatment. Increased sensitivity to oxidative stress induced by cold. Loss of cold acclimation
Adult flies display wings inflated with lymph, suffer from a bloated gut and progressive dissolution of internal tissues, have reduced fertility, show impaired fast phototactic responses, and die prematurely (PubMed:10961449). Flies display wings with fluid filled blisters approximately 22 hours after eclosion resulting from failure of dorsal and ventral cuticular wing surfaces to bond following normal migration of the epithelial cells from the wing (PubMed:16962574). Female flies are sub-viable, semi-sterile and grow smaller ovaries. Ovaries show cellular degeneration with escort cells and follicle cells often displaying clear cytoplasms, multi-lamellar bodies and multi-vesicular vacuoles containing cell debris. Ovaries have reduced levels of both extracellular matrix (ECM) collagen IV alpha chains. Reduced tissue stiffness along germaria of ovarioles, including the germline stem cell (GSC) niche and the area where the follicle stem cells reside, as well as in the follicular epithelium of early egg chambers and their interfollicular stalks, despite a largely normal distribution of major ECM components. Severely impaired oogenesis, abnormally long interfollicular stalks, significant alterations to germarium morphology and abnormalities in stem cell niche organization in aging ovaries. Impaired ability of the GSC niche to generate new cysts. Abnormal localization of matrix metalloproteinases Mmp1 and Mmp2 (PubMed:26808525)
RNAi-mediated knockdown causes arrested development at 90-100 cells and inhibits differentiation (PubMed:11566890). The two E cell daughters (E2 cells), which form the endoderm, divide abnormally early, immediately after the MS2 cells (PubMed:11566890). Phosphorylation of the RNA Pol II large subunit C-terminal domain (CTD) is reduced slightly in embryos (PubMed:11566890). Abolishes expression of taf-10, perhaps as a result of altered protein stability (PubMed:11566890). Reduces expression of a range of genes, including let-858, rps-5, hsp16.2, and pes-10, but has little or no effect on expression of cki-2 and sur-5 (PubMed:11566890)
Causes the formation of defective spore walls and a lack of trehalose biogenesis, leading to a rapid loss of spore viability and reduced tolerance to various stresses (PubMed:20966095). Leads also to delayed germtube formation and reduced hyphal branching (PubMed:20966095)
Elimination of suberin-associated ester-linked ferulate. Altered permeability and sensitivity of seeds and roots to salt stress
Mice fail to grow, experience severe epileptic seizures and die immediately or shortly after birth probably due to multiple neural and endocrine deficits (PubMed:10624962). Mice lacking both Sv2a and Sv2b display a similar phenotype (PubMed:10624962). Diaphragm motor nerve terminals from mice with only a single copy of this gene and no Sv2b have decreased binding of C.botulinum neurotoxin type A (BoNT/A, botA) and are less sensitive to the toxin (PubMed:16543415). Hippocampal neurons from young mice lacking both Sv2a and Sv2b do not bind BoNT/A, nor do they take it up (PubMed:16543415, PubMed:18815274). Hippocampal neurons from young mice lacking both Sv2a and Sv2b do not bind C.botulinum neurotoxin type E (BoNT/E), nor do they take it up (PubMed:18815274). Hippocampal neurons from young mice lacking both Sv2a and Sv2b do not bind C.botulinum neurotoxin type BoNT/D (BoNT/D, botD), nor do they take it up (PubMed:21483489). Hippocampal neurons from young mice lacking both Sv2a and Sv2b take up C.botulinum neurotoxin type C (BoNT/C) and C.botulinum neurotoxin type F (BonT/F, botF) normally (PubMed:21483489)
Deletion mutant displays reduced viability when exposed to electrophilic quinones
Read-through transcription of regulatory lncRNAs (long non-coding RNAs) (PubMed:30651569). Decreases premature pre-mRNA 3'-end formation of ssm4 (PubMed:30651569). Increases levels and cytoplasmic localization of mating and meiosis specific transcripts during vegetative growth (PubMed:30651569). Decreases heterochromatin formation at meiotic heterochromatin islands (PubMed:26942678)
Large increases in loganic acid accumulation
Embryos die pre- and perinatally with haemorrhagic hydrocephalus and calvarial defects, beginning at 13.5 dpc (PubMed:9635428, PubMed:10479458, PubMed:19668217). Mutants that survive to later stages exhibit multiple craniofacial and vertebral defects characterized by disorganized rib fusion, absence of chondrocytes proliferation and ossification (PubMed:9106663, PubMed:25808752). Show abnormal cerebellar development with an enlarged fourth ventricle roof plate at 12.5 dpc and a disorganized cerebellar rhombic lip (PubMed:19668217). Show eye formation abnormalities: the lens remains attached to the cornea, both the anterior chamber and the corneal endothelium are absent, the corneal stroma is thicker, the arrangement of mesenchyme cells are disorganized and the corneal endothelial cells do not differentiate (PubMed:10395790). Show cardiovascular defects including persistent truncus arteriosus, ventricular septal defect, coarctation of the aortic arch, and aortic and pulmonary valve dysplasia (PubMed:10479458). Show abnormal kidney and ureter development, including duplex kidneys connecting to double ureters (PubMed:10704385). Show a decrease in hedgehog-induced genes expression levels involved in endochondral ossification (PubMed:25808752). Double knockout of FOXC1 and FOXC2 genes in mice embryos die around 8-9.5 dpc and show profound abnormalities in the first and second branchial arches, the early remodeling of blood vessels, a complete absence of segmented paraxial mesoderm, and the presence of ectopic and disorganized mesonephric kidney tubules (PubMed:11562355, PubMed:15196959). Mice with conditional knockout of both FOXC1 and FOXC2 genes in adult mice show renal tubular damage with protein reabsorption droplets, tubular dilation and proteinaceous casts and show also altered expression levels for several genes involved in the differentiation of podocytes (PubMed:28223138). Display also podocyte degeneration characterized with microvillous transformation, podocyte foot process effacement and irregular thickness of the glomerular basement membrane (PubMed:28223138). Podocyte-cell-specific conditional knockout of both FOXC1 and FOXC2 genes in adult mice show reabsorption droplets, tubular dilation and proteinaceous casts (PubMed:28223138). Endothelial-specific conditional knockout mice show a significant reduction in CXCR4 expression as well as in chemokine CXCL12-induced endothelial cell migration (PubMed:18187037). Limb bud mesenchymal-specific conditional knockout mice display strong reduction in haematopoietic stem and progenitor cells, the presence of adipocytes in marrow cavities (yellow adipose marrow) instead of CXCL12-abundant reticular (CAR) cells and die around 6 weeks of age with haemorrhagic hydrocephalus and calvarial defects (PubMed:24590069). CAR cell-specific conditional knockout mice are viable and die without hydrocephalus defects, but show a reduction in haematopoietic stem and progenitor cells (HSPCs) and most marrow cavities are filled with adipocytes (PubMed:24590069). Adult widespread cell-specific conditional knockout mice show a reduction in haematopoietic stem and progenitor cells (HSPCs), with only occasional adipocytes present in marrow cavities (PubMed:24590069). Neural crest (NC)-specific conditional knockout mice die postnatally with hydrocephalus and craniofacial abnormalities comparable to those seen in conventional knockout mice; embryos display pupillary abnormalities, with impaired collagen formation in the corneal stroma and aberrant vessel growth in the normally avascular corneas (PubMed:22171010)
Reduced efficiency of intracellular multiplication of tobamoviruses (e.g. crucifer strain TMV-Cg)
Cells lacking this gene are unable to utilize acetate or acetoacetate as sole carbon source, but grow on succinate or propionate plus bicarbonate
Mutants are more sensitive to HOCl treatment than wild-type cells
Deficient female mice show reduced sexual receptivity, as measured by lordosis quotient and masculinized sexual behaviors in female mice. Display a reduced number of tyrosine hydroxylase-positive neurons in the anteroventral periventricular nucleus, a sexually dimorphic feature in rats and mice. Embryos at 16.5 dpc have reduced alpha-feto-protein levels and reduced fucosylation of alpha-feto-protein
Increased length of spikelet awns and weight of seeds. Increased sensitivity to brassinolide. Enhanced tolerance to drought, salt, cold and heat stresses
Albino lethal phenotype with severe chloroplast development defects
Deletion of the gene completely abolishes glycine betaine transport
Reduced amount long-chain fatty acid (LCFA)
RNAi-mediated knockdown increases lifespan, which is abolished on an mxl-2 or mml-1 mutant background, or by simultaneous RNAi-mediated knockdown of daf-16 or pha-4 (PubMed:24699255). RNAi-mediated knockdown causes delayed onset of polyglutamine-mediated paralysis (PubMed:24699255)
Mutants lack the final mannose subunit of the N-linked pentasaccharide
Mice heterozygous for Dmrt2 mutation exhibit no visible phenotype. Homozygotes are perinatally lethal due to signs of respiratory distress. They have rib, sternal, vertebral and skull base malformations. Expression of myogenic growth factors, such as Pax3 and Myog, the growth factor Pdgfa, cadherin Cdh2, and the filament protein Des is abnormal. Mutants lack most or all of the epithelial organization seen in wild-type somites, sclerotome and dermomyotome. Mutants have disrupted production of matrix components including laminin-1 in the dermomyotome. Arrangement of the myogenic cells of the inter-limb somites is abnormal. Myf5 activation in the epaxial domain is retarded thus having consequences in the myogenesis by delaying expression of Myog. Mutants do not have left-right defects regarding internal organs positioning. Dmrt2 and Pax3 double null mutant embryos exhibit suspended development and Myog expression is markedly decreased and its expression pattern dramatically distorted
Males are sterile, spermatids exhibit degenerated mitochondria. Reduced activation of the Drs promoter. Double mutants for ref(2)P and scny die 96 hours after egg laying (PubMed:22622177)
Disruption of the development of the vegetative shoot apex. Abnormal leaf positioning and impaired shoot apical meristem (SAM) maintenance, leading to the death of most plants prior to the end of vegetative development
No visible phenotype. Mice lacking both Fgr and Hck are normal and fertile, but show increased susceptibility to infection with Listeria monocytogenes. In addition, their polymorphonuclear leukocytes show defects in cell spreading and adhesion
Accumulation of long-chain acyl-CoA substrates and increased size of peroxisomes
Deletion of the gene does not result in growth defects for either D-galactitol or D-altritol
Combined inactivation of both glgM and ostA is lethal, potentially due to accumulation of toxic levels of ADP-glucose. Combined inactivation of otsA and glgC results in a loss of alpha-glucans and maltose-1-phosphate (M1P)
Defective in intermediate steps of nodule differentiation leading to a strong reduction in the number of infections, mainly arrested in the root epidermis, thus producing nodule primordia that initiate normally but fail to mature (small white bumps)
Reduced growth and mobility. Larval lethal
Non-invasive for a number of mammalian cell lines; avirulent by oral infection of BALB/c mice. Increased sensitivity to acridine orange and novibiocin. Decreased resistance to bile salts and SDS
Essential. Depletion leads to the accumulation of 30S precursor rRNA (PubMed:11123676), and alteration of levels of about 11% of total transcripts (PubMed:22412379, PubMed:11123676, PubMed:18363798). Increased half-life of type I toxin-antitoxin system RNAs of BsrG/SR4 and toxin BsrE mRNA (note these strains must have an essential second-site suppressor to survive) (PubMed:22229825, PubMed:26940229)
Reduces the rate of xylan degradation and growth on minimal medium with xylan
Deletion of ramR leads to loss of aerial hyphae and sporulation on rich solid medium after 4 days growth; by 5 days aerial hyphae and RamC are expressed (PubMed:12100547, PubMed:12453210). Deletion on rich medium leads to an initially bald (bld, no aerial hyphae) phenotype; after 4 days develops a substantial aerial mycelium. Wild-type mycelium on minimal medium (PubMed:17462011). No expression of SapB, normal expression of chaplins. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011)
RNAi-mediated knockdown results in sterility and a germ cell proliferation defect
Embryonically lethal (PubMed:30610177). Loss in Johnston's organ causes scolopidium abnormalities (PubMed:30610177)
Null mutant is unable to excrete L-lysine (PubMed:8971704). Deletion of lysEG decreases the extracellular accumulation of L-lysine, L-arginine and L-citrulline (PubMed:27350619)
Defects in the projection pattern of nociceptive sensory neurons to the dorsal horn of the developing spinal cord leading to reduced sensitivity to painful stimuli. They die within 3 weeks of birth. Mice lacking Drgx exhibit reduced expression of Rgmb in dorsal root ganglion sensory neurons
Auxotroph for thiamine
Mice display greatly reduced ATP levels in sperm, severely impaired sperm motility and are infertile. No alteration in testis histology, sperm counts, or sperm ultrastructure seen
Severe leaf variegation, distortion and partial sterility
When associated with VHA-a2 disruption, day-length-dependent growth retardation associated with a reduced accumulation and storage of nitrate ions in vacuoles. Increased sensitivity to zinc ions due to a lower zinc ions sequestration in vacuoles. Reduced calcium content. No effect on sensitivity to sodium ions
Embryos show a down-regulation of early pronephric markers lhx1/lim1 and pax8, and disruption of pronephric development
Deletion mutant shows a strongly reduced uptake activity of BCAAs and methionine (PubMed:16621821). Deletion of the gene results in the loss of most of the BCAA uptake activity of L.lactis, and deletion of this gene together with a second BCAA permease, encoded by brnQ, further reduced the viability of the strain (PubMed:16621821)
Impaired selenocysteine incorporation into proteins, such as SelT, SelK and SelTryp (PubMed:26586914). No defect in promastigote growth rate and in their capacity to infect host macrophages (PubMed:26586914)
Homozygous PTN knockout mice are viable and fertile and show no gross anatomical abnormalities. The hippocampal structure as well as basal excitatory synaptic transmission in the area CA1 appear normal. The skeletal structure of homozygous PTN knockout mice develops normally. However, a growth retardation of the weight-bearing bones is observed by 2 months of age. Adult homozygous PTN knockout mice are characterized by low bone formation and osteopenia, as well as resistance to immobilization-dependent bone remodeling (PubMed:11414790, PubMed:12093164). Mice show faster learning in water maze and decreased anxiety in elevated plus-maze test (PubMed:12093164). Homozygous PTN knockout mice exhibit cognitive rigidity, heightened anxiety, behavioral reticence in novel contexts and novel social interactions. Initial learning of spatial and other associative tasks, as well as vascular density in the lateral entorhinal cortex, are normal (PubMed:25000129). PTN and MDK double knockout mice are born in only one third the number expected by Mendelian segregation and 4 weeks after birth weigh about half as much as wild-type mice. Most of the female are infertile. Both male and female one-month-old mice show a defect in spontaneous locomotive activity of 50-60% of that of wild-type mice. Although the difference in activity decrease with age, the activity of 3-month-old male double knockout mice is still about 80% of that of the wild-type mice. The diestrus and proestrus periods are long and the estrus period is short. Furthermore, vaginal abnormality is found in about half of the double deficient mice (PubMed:17121547). PTN and MDK double knockout mice have a deficit of auditory response (PubMed:16619002)
Not essential, it can be deleted. RNase J remains associated with the ribosomes and polysomes
From 1 week to 12 weeks of age, progressive deterioration from mild to massive albuminuria as consequence of renal abnormalities. In kidney, severe podocyte damage, glomerular lesions with focal and segmental sclerosis, along with prominent intratubular casts and luminal dilatation. Tubular epithelial cells show degenerative changes with basement membrane thickening. Increase of apoptotic cells in kidney glomeruli and tubulointerstitium
Sensitive to nickel
Cells lacking this gene have lost the ability to utilize aminomethylphosphonate or (S)-1-aminoethylphosphonate as the sole source of phosphate for growth, but are still able to utilize the other aminoalkylphosphonates 2-aminoethyl- and 3-aminopropylphosphonate, and alkylphosphonates. They are also much more susceptible to the bacteriocidal effect of (S)-1-aminoethylphosphonate, even with phosphate or D-alanine present
Severe growth defects and collapsed xylem (PubMed:25681330). Decreased xyloglucan acetylation and decreased O-acetylation of xylan (PubMed:25681330)
Defective organ formation due to disorganized shoot, inflorescence, flower, and root meristems leading to stunted roots, few root hairs, lanceolate leaves, and a highly enlarged, disorganized shoot apex that does not produce an inflorescence (PubMed:12615938, PubMed:8392411, PubMed:10353913, PubMed:11589569, PubMed:15894610, PubMed:25518926). Altered cell division and cell differentiation in leaves (PubMed:25518926). No detectable 5-carbamoylmethyluridine (ncm5U) modified nucleosides (PubMed:20836892)
RNAi-mediated knockdown partially suppresses the sterility of spr-5 mutants (by101) and results in a slightly increased number of eggs laid as compared to the spr-5 single mutant
No defects seen in the sperm morphology and motility (PubMed:34446558). Velocity parameters such as average path velocity, straight-line velocity, and curvilinear velocity are slightly decreased in the spermatozoa (PubMed:34446558)
No impact on growth with fumarate, or on the ability to reduce Fe(3+)
Prevents arginine conversion to other amino acids
Impairs pathogenicity (PubMed:31599055). Forms pressurised appressoria but is hampered in forming penetration pores and fails to differentiate a penetration peg (PubMed:31599055)
Pachytene exit and oocyte development are accelerated (PubMed:12169634, PubMed:21901106). These are associated with the accumulation of smaller oocytes in the proximal gonadal arm, the misalignment of oocytes in multiple rows, a premature nucleolus breakdown and an abnormal mpk-1 phosphorylation after pachytene exit and in diakinesis oocytes (PubMed:12169634, PubMed:21901106). 53 percent of mutants have endomitotic oocytes (PubMed:12169634). Embryo development is arrested before morphogenesis resulting in 50 percent embryonic lethality (PubMed:12169634). In adults, but not in larvae, reduced number of germ cells in the mitotic region of the gonad (PubMed:16319922). Moderate increase in the number of apoptotic corpses in the germline which is further enhanced following gamma irradiation (PubMed:21901106). Increased egl-1 mRNA expression in response to gamma irradiation (PubMed:21901106). Increased cep-1 expression in early pachytene germ cells (PubMed:21901106). Increased life span (PubMed:20624915). Increased MAP kinase activity (PubMed:11161219). Reduced levels of mpk-1 isoform b associated with an increase in mpk-1 isoform b phosphorylation (PubMed:21901106). In lip-1 and let-23, lip-1 and sem-5, and lip-1 and mpk-1 double mutants, normal vulva induction is restored (PubMed:11161219). In lip-1 and mpk-1 double mutants, normal oocyte development and fertility are restored (PubMed:12169634). lip-1 and puf-8 double mutant produces only sperm and has abnormal mpk-1 phosphorylation in the transition zone at the permissive temperature of 20 degrees Celsius. At the restrictive temperature of 25 degrees Celsius, has proximal germline tumors with high levels of mpk-1 phosphorylation (PubMed:22820175)
Reduced basal defense leading to an increased susceptibility to the non-host bacteria such as P.syringae pv phaseolicola (Psp 1448A) (PubMed:18434605). Increased susceptibility to S.sclerotiorum strain 1980 and to the related fungus B.cinerea. Impaired SCLEROTINIA CULTURE FILTRATE ELICITOR1- (SCFE1) and flg22-dependent ethylene production (PubMed:24104566)
Pleiotropic phenotypes of delayed flowering time and seed production, reduced root growth, partially defective leaf venation, abnormal numbers of trichome branches and changed numbers of floral organs. The double mutants smd3-a and smd3-b display embryonic lethality
Embryonic lethal with severely defective embryonic morphogenesis (PubMed:9288749, PubMed:9288750, PubMed:15620652). Embryos have defective mitotic spindle orientation in the 8-cell stage ABar blastomere (PubMed:9288749, PubMed:9288750, PubMed:20126385). Furthermore, there is disrupted asymmetric distribution of the transcription factor pop-1 and the disheveled homolog dsh-2, which are required for cell fate decisions in 8-cell stage ABar blastomeres and their descendants (PubMed:12810601, PubMed:15990090). There is also abnormal distal tip cell migration along the anterior-posterior axis of the body and defective clearance of apoptotic cell corpses in embryos (PubMed:20126385, PubMed:26292279). Both double knockout with unc-5 RNAi and knockdown by RNAi in an unc-40 mutant background suppresses the migratory defect of distal tip cells in the mom-5 and unc-40 single mutants (PubMed:26292279). Double knockout with Wnt receptor cfz-2 results in enhanced CAN neuron migration defects and also rescues the ALM migration defects in the single cfz-2 knockout (PubMed:16109397). Double knockout with Wnt receptor mig-1 results in enhanced HSN neuron migration defects and also in anterior-posterior axon guidance defects of PVM and AVM touch neurons (PubMed:16516839). RNAi-mediated knockdown results in embryonic lethality, but surviving animals display morphogenesis defects and PHA phasmid neuron duplication (PubMed:15990090)
Viable, with survival to adult stages. Brain tissue shows widespread vascular malformations with localized widening of blood vessels. During embryogenesis, blood vessel connectivity between the dorsal aorta (DA), intersegmental vessels (ISVs) and posterior cardinal vein (PCV) appears normal at 72 hours post-fertilization (hpf). However, blood flow through ISVs is significantly reduced. Blood vessel pruning is increased, probably due to aberrant hemodynamics. Arterial ISVs have a slightly increased diameter, while venous ISVs have greatly reduced diameter. The DA and PCV are both significantly dilated. Endothelial cells in the DA show increased surface area and abnormal morphology in response to blood flow. In contrast, wild-type vessels respond to increased blood flow by an initial expansion phase, followed by vessel contraction. klf2a-mediated shear stress sensing is not affected
In double mutant myb3r3 myb3r5 and triple mutant myb3r1 myb3r3 myb3r5, up-regulation of many G2/M-specific genes leading to larger seeds, organs and embryos due to overproliferation and ectopic cell divisions
Knockout zebrafish are viable and fertile and display no obvious morphological defects as adults (PubMed:31173907, PubMed:31036939). However deficient zebrafish have abnormal microglial with expended lysosomes (PubMed:31036939). They also display increased bone resorption (PubMed:31173907)
Abolishes the production of botrydial and accumulates 5-hydroxy-7-(oct-2-enoyl)botrylactone, 6-beta-hydroxy-7-deoxybo-trylactone, cinbotolide B, and cinbotolide C (PubMed:27529428)
Cells lacking this gene do not grow on erythritol as sole carbon source, in contrast to wild-type
Disruption mutant shows changes in morphology, growth defects and a progressive loss of viability upon subcultivation in liquid medium. Disruption leads to an extensive change in gene expression patterns during stationary phase, with no changes during exponential growth. It also alters susceptibility to many antibiotics
Cells lacking this gene show multiple auxotrophy (Met, Thr, Lys and DAP)
Disruption of fadD28 abolishes the production of phthiocerol dimycocerosate (DIM) on the cell envelope (PubMed:10573420, PubMed:11279114). Grows normally in liquid culture, traffics into host (human and mouse) acidified compartments early after phagocytosis, suggesting it no longer arrests phagosome maturation as well as wild-type, impaired growth in mouse macrophages (PubMed:20844580)
No visible phenotype. Microscopic decrease in the calcification of hypertrophic chondrocytes at the growth plate
Mice are fertile and grossly normal. However, they show a high sensitivity to autoimmune diseases and may develop a spontaneous generalized autoimmune disorder characterized by auto-antibody production, infiltration of activated T- and B-lymphocytes into various organs and parenchymal damage
Mutant embryos appear normal and have normal heartbeat at 12.5 dpc. All are dead by 14.5 dpc
Mutant shows increased sensitivity to cefoperazone, a third-generation cephalosporin
Smaller plants (PubMed:32396196). Lower pre-mRNA splicing events and reduced production of U6 snRNA in plants lacking PFD2, PFD4 and PFD6, probably due to a reduced activity of the LSM2-8 complex (PubMed:32396196)
Abnormal retrograde transport to the Golgi apparatus with proteins missorted to the vacuole (PubMed:28404745). Sensitive to neomycin and trifluoperazine; sensitivity is suppressed by knockout of ANY1 (PubMed:28404745)
Cells with a disrupted yenA1-yenA2-chi2-yenB-yenC1-yenC2 locus are no longer pathogenic in C.zealandica larvae; chi1 was not tested
Shows significantly reduced growth but does not affect tolerance to benzoxazolinone
Malformations in 2 of the major axonal tracts interconnecting the cortical hemispheres: the corpus callosum (c.c) and the anterior commissure (a.c). Misrouted afferent and efferent cortical axon connections. Impaired migration of upper-layer neurons. Ectopic expression of Ctip2. Craniofacial abnormalities and defects in osteoblast differentiation and function
Early flowering. Loss of H2A.Z from chromatin
Mutants are resistant to aldicarb, an inhibitor of acetylcholinesterase
Embryonic lethal. Knockout embryos die at 5 to 6 dpc, before gastrulation
Triple deletion of clsA, clsB and clsC results in a complete lack of cardiolipin, regardless of growth phase or growth conditions
Methylation of 5'-GGTAAG-3' in chromosomal DNA, however BREX no longer confers phage resistance
Mutant flies show loss of both behavioral circadian rhythms and molecular oscillations of per RNA and protein
Deficient mice die at birth with cleft palate and apnea and exhibit reduced levels of glutamic acid decarboxylase and gamma-aminobutyric acid in the cerebral cortex
Cells lacking this gene show growth defect in natural and synthetic cystic fibrosis sputum
Decreased biofilm formation under static and flow growth conditions
Essential, it cannot be deleted unless rnlA is also disrupted
Worms exhibit resistance to the Cry5B toxin produced by Bacillus thuringiensis. This is thought to be due to mutants having reduced population of glycolipids which are targeted by the Cry5B protein. Mutants also have reduced brood sizes at only 12% of wild-type N2
RNAi-mediated knockdown results in slower development and shortened lifespan when exposed to mitochondrial stress
A triple mepS-mepH-mepM mutant is inviable, whereas a double mepS-mepM will grow on a nutrient-poor medium but not on a rich medium, suggesting the 3 endopeptidases are functionally redundant in vivo. Depletion experiments of the double or triple mutants lead to cell lysis, as well as significantly decreased incorporation of mDAP into peptidogylcan sacculi and increased amounts of the enzyme's substrate (Tetra-Tetra-anhydro muropeptide)
Deletion of the gene leads to a strong decrease in intracellular growth in human monocytes (PubMed:10361301, PubMed:11115108). Mutant is unable to evade phagosome lysosome fusion, but retains the pore-forming activity (PubMed:10361301, PubMed:11115108). Mutation severely impairs the translocation into host cells of multiple effector proteins, including SidA, SidB, SidC, SidD, SidE, SidG, SidH, WipA and WipB (PubMed:15661013, PubMed:18069892). Loss of this gene has an effect on the levels of IcmS (PubMed:17040490)
Disruption mutant shows selective sensitivity to arsenate. Does not affect sensitivity to antimonate [Sb(V)]
Decreased resistance to macrolides, a lincosamide, and an aminoglycoside antibiotic
Mice are viable and fertile and display no obvious phenotype, but their neurons do not display growth cone collapse in response to proBDNF (PubMed:24908487, PubMed:29909994). Cultured neurons from mutant mice display longer neurites than wild-type neurons, and the frontal cortex of 12 week old mice is hyperinnervated with fibers from tyrosine hydroxylase-positive neurons (PubMed:24908487, PubMed:29909994). Mutant mice display mildly increased spontaneous locomotor activity; contrary to wild-type, treatment with amphetamine decreases their locomotor activity. After sciatic nerve injury, 2 day old and adult mice show discreased Schwann cell apoptosis distal to the lesion (PubMed:24908487). Mutant mice show increased mortality after seizures caused by repeated treatments with the convulsant pentylenetetrazol (PTZ). Hippocampus neurons from mutant mice display increased levels of oxidative stress and increased apoptosis (PubMed:30840898). Mutant mice display subtle behavorial defects, with hyperactivity, altered acquisition of spatial memory, but a normal startle response to noise (PubMed:27457814). Heterozygous mice have normal body weight and motor skills, but combination with a mouse model for Huntington disease (HD) gives rise to increased severity of impaired motor skills (PubMed:28469074). After a cross of mice carrying a Cre construct under the control of the Tek promoter with mice carrying a floxed Nppc gene a subset of the offspring displayed behavorial defects, including hyperactivity and hanging from cage tops. A subset (11 out of 33 mice) displayed strongly reduced body weight and profound deafness, with defects in the organization of the outer and inner hair cell bundles in the organ of Corti. Analysis of the genomic DNA from deaf mice showed that in 13 cases, these mice had the Cre construct inserted into the first intron of the Sorcs2 gene, but in 21 cases, the insertion had occured in an Ig kappa locus (PubMed:28346477)
In vivo, this mutant constitutively represses glnR expression. In vitro, this mutant binds DNA more tightly than wild-type and this binding is not activated by feedback-inhibited GlnA
Flies exhibit rapid light-induced retinal degeneration
Stay-green phenotype during senescence, salt stress and oxidative stress
Mice appear generally healthy, but display complete sterility, due to defective meiosis during germ cell development. Ovaries and testes from mutant mice have strongly reduced weight relative to wild-type. Ovaries display an absence of growing follicles and oocytes. Testes show a complete lack of spermatids and spermatozoa. Synaptonemal complexes from mutant spermatocytes form normal axial elements, but lack the central element; chromosomes do not synapse properly, cross-overs are rare, and DNA repair after meiotic double-strand breaks is impaired
Homozygous semilethal and sterile. Mutant flies show accumulation of the longest isoforms of multiple-isoform miRNAs including miR-3 and miR-34
Triple knockout mice lacking Sesn1, Sesn2 and Sesn3 do not display an embryonic lethal phenotype since they are born at an expected Mendelian ratio. Moreover, they are not distinguishable from their wild-type littermates. However, their survival at 10 days is dramatically affected. This is associated with a constitutive activation of TORC1 signaling in the liver, heart and skeletal muscle during postnatal fasting, that occurs between birth and suckling
Disruption leads to an increased sensitivity to acid and fails to maintain intrabacterial pH in acid in vitro and in activated macrophages. Growth is also severely attenuated in mice
Triple mutants lacking FimC, FimD and FimE show strongly decreased interaction with host CXCR4 and impaired down-regulation of the TLR2-mediated innate immune response, resulting in strongly reduced survival of the bacteria
Embryo lethality. Reduced galacturonic acid and xylose content in cell wall. Altered cell wall porosity. Reduced vascular bundle
No longer processes NHBA (PubMed:20133713). Bacteria are more susceptible to killing in human serum and human whole blood, human complement factor C3 is no longer cleaved, increased C3b deposition on bacteria (PubMed:24367091)
Resistance to lithium due to elevation of inositol (1,4,5) trisphosphate
No fimbrae seen on bacteria, the outer membrane blebs significantly, bacterial adhesion to human oropharyngeal cells decreases about 65%, significantly reduced ear infections in chinchilla
In IL-5 deletion mice, the intestinal eosinophilia that developed in WT mice during T. spiralis infection was completely abolished, revealing the importance of IL5 for the increased production and recruitment of eosinophils to the gut during infection
Cells initiate multicellular development prematurely
Leads to increased adhesion and biofilm formation
Disruption leads to increased expression of ftsH, indicating CtsR is a transcriptional repressor
Insertion mutations in this gene partially restore antibiotic resistance to the beta-lactam antibiotic cefuroxime (CEF) in a sigM deletion mutant (PubMed:22211522)
Essential. Depletion induces juxtapositioning of inner and outer membranes and alters the architecture of the cell envelope. It causes mislocalization of outer membrane lipoproteins (PubMed:15513925). The mutant has a copper-sensitive, temperature sensitive phenotype (PubMed:1938881)
No effect on assembly of T2SS-beta, severely reduced secretion of the labile toxin exported by T2SS-beta
Loss of lovastatin biosynthesis. Accelerates degradation of lovastatin precursors
No visible phenotype under normal growth conditions, but the mutant plants die rapidly after challenges with the turnip mosaic virus (TuMV) and turnip vein clearing virus (TVCV). The double mutant erdj3b and p58ipk is male gametophytic lethal
Deficient mice are viable and fertile, but decreased body weight and length and abnormal cartilage (PubMed:21148564)
Highly heterogeneous chloroplast population with giant chloroplasts and some smaller (PubMed:25731613). Impaired chloroplast division, some green cells with one single big chloroplast (PubMed:25731613). Abnormal thylakoids (PubMed:25731613). Increased plastid volume in young leaf primordia and in the shoot apical meristem (SAM), including the central zone as well as peripheral zone of L1, the outermost layer, the peripheral zone of L2, and the peripheral zone of L3 (PubMed:29920253)
No visible phenotype at birth, but exhibit significant growth retardation at the time of weaning. Attain normal size and weight when fed normally. Exhibit hypothermia and hypoglycemia when fed high-fat, low-carbohydrate diet, leading to 50% mortality. Display strongly reduced whole-body acetate oxidation when fasting. Fasting adults exhibit hypothermia, reduced capacity to sustain running and low ATP levels
RNAi-mediated knockdown in 1-cell embryos results in mislocalization of the pronuclei and the spindle towards the anterior part of the embryo, spindle instability, and failure of asymmetric cell division in 50 percent of embryos. In addition, spindle pulling forces are increased. par-2 and par-3 mediated embryo polarity is normal. Oocytes have increased cortical grp-1 and grp-2 localization
Causes mitochondria to cluster within cells (PubMed:14617080). Reduced proportion of the cellular volume devoted to chloroplasts leading to an abnormal chloroplasts distributions (PubMed:26862170). Lower levels of chlorophyll, especially in plants lacking REC1, REC2, REC3 and FMT/CLU (PubMed:26862170)
Mutant mice are born at the expected Mendelian frequency. They display microcytic and hypochromic anemia and iron overload in spleen and liver associated with heme toxicity when kept on high-iron diet. The plasma levels of ketone bodies is normal
Abnormal root hair development (e.g. shorter with abnormal shapes) (PubMed:28751315). The double mutant scyl2a scyl2b has short root hairs and small shoots (PubMed:28751315)
Maternal-effect embryonic lethal (PubMed:23155404). RNAi-mediated knockdown results in a meiotic defect in 30% of early embryos and defective microtubule related processes during the first cell cycle in early embryogenesis (PubMed:12956950, PubMed:12956951, PubMed:12956952). In one-cell embryos, the maternal pronuclei fail to migrate and the breakdown of the pronuclear envelope is delayed (PubMed:12956950, PubMed:12956951, PubMed:12956952). The sperm pronuclear complex also exhibits a migratory defect whereby it does not move to the center of the embryo or rotate on the anterior-posterior axis leading to the assembly of a misaligned spindle at the posterior of the embryo and ingression of the cleavage furrow from the posterior cortex (PubMed:12956950, PubMed:12956951, PubMed:12956952, PubMed:17666432). Reduced microtubule growth rate in embryos (PubMed:16054029). Defective microtubule elongation in one-cell embryos resulting in short microtubules that extend from the centrosome, but do not extend to the cortex, and mitotic spindles that are 20% shorter than in wild-type one-cell embryos (PubMed:12956950, PubMed:12956951). Specifically, one-cell embryos have shorter astral and mitotic spindle microtubules (PubMed:12956952). Reduced stability of the zyg-9/tac-1 complex with reduced accumulation of zyg-9 at the centrosomes (PubMed:12956950)
Most germ cells do not exit the posterior midgut (PMG) and remain clumped together within the midgut pocket. The few germ cells that do leave the midgut early migrate normally to the gonad
Mutants are unable to grow under iron-limiting conditions
Mice are viable but display growth retardation, homeotic transformations of the axis and sterility in both males and females (PubMed:28694333). Male sterility is caused by defects in generation of elongating spermatids (PubMed:28694333)
No visible phenotype under normal growth conditions, but mutant plants mutant exhibit reduced sensitivity to high salinity during seed germination and seedling development
Cells are still able to induce low levels of internalization, but are impaired in their ability to enter epithelial cells
Mice display accelerated loss of dopaminergic neurons and impaired motor skills (PubMed:33505021). Knockout neurons show increased damage in response to insults and an accumulation of alpha-synuclein (PubMed:33505021, PubMed:35750034). The accumulation of alpha-synuclein leads to increased damage to the integrity of lysosomal membranes (PubMed:33505021, PubMed:35750034)
Mice are normal but males show severe male subfertility despite normal sperm morphology (PubMed:31056283). Subfertility is caused by defects in sperm motility: spermatozoa have a lower basal level of intracellular calcium and aberrant Ca(2+) homeostasis (PubMed:31056283)
Cells lacking this gene are unable to produce monoacylated phosphatidyl-myo-inositol dimannoside (Ac1PIM2) resulting in the accumulation of Ac1PIM1, the absence of LAM and LM-A, and the presence of LM-B
Increases cellular chitin level and decreases cellular chitosan level (PubMed:16278457, PubMed:17400891, PubMed:32071275). Swollen cell with abnormal cytokinesis (PubMed:16278457, PubMed:17400891, PubMed:32743128, PubMed:32071275). Abnormal capsular morphology: lower fiber density, short fibers, decreases capsular diameter (PubMed:32743128). Decreases extracellular vesicle secretion (PubMed:32743128). Melanization of surrounding media (PubMed:16278457, PubMed:17400891). Increases CHS5 and CHS7 RNA level (PubMed:16278457). Sensitive to: caspofungin (cell wall stress inducer), sodium dodecyl sulfate (cell wall stress inducer), Congo Red (cell wall stress inducer), Calcofluor White (cell wall stressor), caffeine, NaCl (osmotic stressor), high temperature (PubMed:16278457, PubMed:17400891, PubMed:31266771, PubMed:32071275). Intranasal inoculation with high inoculum causes rapid mortality in mouse; mortality is not due to fungal burden but to a strong hyperinflammatory response in the host driven by host neutrophils (PubMed:32071275)
Expression of unc-4 in all 6 VC motor neurons in contrast to wild-type expression which is only detected in the vulval VC neurons, leading to hyperinhibition of HSN neuron activity and egg-laying defects (PubMed:24348272). RNAi-mediated knockdown in an spr-5 mutant background suppresses progressive sterility and prevents accumulation of histone H3 'Lys-4' dimethylation (PubMed:24685137)
Mutant exhibits pathogenesis defects, including reduced virulence in mice, attenuated growth in macrophages and an inability to suppress immunostimulatory cytokines such as IL-12 (PubMed:16135231). Host (human) cells no longer produce cytokine IP-10 (CXCL10) upon infection, but continue to produce IL-1 beta (IL1B) (PubMed:26048138)
Plants display strongly reduced auxin polar transport in inflorescence stems and hypocotyls. This phenotype is probably due to altered cell differentiation and morphology (PubMed:11402186). Repression by miR165 suppresses DOF5.1 over-expression mediated upward-curling phenotype (PubMed:20807212)
Cells lacking trm141 show abolished N(3)-methylcytidine modification in tRNA(Ser) (PubMed:27354703). Cells lacking trm140 and trm141 show abolished N(3)-methylcytidine modification in tRNAs (tRNA(Ser) and tRNA(Thr)) (PubMed:27354703)
Mice infected with C.neoformans var. grubii serotype A (strain KN99) display reduced Arg1/arginase-1 expression in interstitial macrophages as well as reduced pulmonary fungal burden and eosinophilia (PubMed:35896747). Animals with a double knockout of Apoe and Tlr4, fed a Western diet for 12 weeks, have less aortic plaque formation than single Apoe knockout mice. They also show lower serum concentrations of Il1a, Ilb and Il18 (PubMed:23812099)
No visible phenotype under normal growth conditions, but mutant plants exhibit increased sensitivity to cold stress
Abscisic acid (ABA) and glucose insensitivities. More efficient germination and postgermination growth
Perinatal lethality. Mice have feeding and respiratory difficulties due to a complete cleft of the secondary palate. However, they have reduction of renal fibrogenesis. Mice lacking both PDGFA and PDGFC develop a cleft face, subepidermal blistering, deficiency of renal cortex mesenchyme, spina bifida and skeletal and vascular defects
EsxA and EsxB secretion severely reduced, but not their expression (PubMed:15687187)
Normal Mendelian ratio at birth, but none of the mutant animals survive beyond P0. Newborn mutant mice exhibit a strong defect of the soft palate, vertebral malformations in the cervical and thoracic regions of the axial skeleton and malformations in the middle ear components
Essential it cannot be disrupted
RNAi-mediated knockdown blocks ecdysone-dependent fat body cell migration into the pupal head
Mice develop paraparesis and neurodegeneration and display reactive microglia caused by defects in TGF-beta-1 signaling (PubMed:29909984). Mice are viable at six-weeks of age and immune organs and leukocyte subsets are not affected (PubMed:24739962). However, significantly increased reactive oxygen species (ROS) production is observed in primary bone marrow-derived macrophages (BMDMs) upon zymosan stimulation (PubMed:24739962). Mice are more susceptible to Toll-like receptor (TLR) ligand challenges: the macrophages and dendritic cells produce more pro-inflammatory cytokines through increased activation of MAPK and NF-kappa-B (PubMed:24550525). By two months of age, mice begin to display neurological symptoms including defects in motor control and strength and die before six months of age (PubMed:28459434, PubMed:29909984). Mice show microglial development defects (PubMed:28459434, PubMed:29909984). Mice develop progressive paraparesis associated with loss of myelin and axons in the spinal cord and brainstem (PubMed:29909984)
RNAi-mediated knockdown causes severe embryonic lethality (PubMed:10521400, PubMed:23336080). Causes a failure to duplicate centrioles resulting in the formation of monopolar spindles at the 2-cell embryonic stage (PubMed:21497766, PubMed:23336080). sas-5 protein levels are reduced in embryos (PubMed:21497766). The few surviving animals lack a vulva resulting from defects in vulva cell induction, vulva precursor cell (VPC) generation and in vulval execution linage (PubMed:10521400). Partially suppresses multivulva formation in a let-60 n1046 mutant background (PubMed:10521400)
Ectopic divisions in the ground tissue (GT) region leading to an additional layer at the root pole of mature embryos and seedlings and associated with increased numbers of cells in the circumference within each root layer. Impaired SCR expression in the quiescent center (QC). A low level of SHR moves one extra layer outward from the endodermis, correlating with ectopic divisions in the cortex. This phenotype is stronger in the double mutant jkd bib, thus resulting in roots with wider meristems and additional layers between the central stele and the epidermis as well as an increased cell number per layer leading to unclear morphological tissue distinctions; in root meristems, only a dynamic subset of layers expresses SCR, restricted to the stele-adjacent layer at the root pole, and specific to ectopic dividing tissues. In the double mutant, SHR accumulates in the expanded inner vascular tissue and in all surrounding cell layers, including epidermis, with inefficient nuclear retention. The quadruple mutant line jkd mgp nuc scr has short root meristems, lacks endodermis and miss Casparian strip
Essential, it cannot be deleted (PubMed:8454182). Cells depleted of PBP2x stop growing within a few hours after expression stops. Cells are lemon-shaped rather than ellipsoid and some are elongated (PubMed:23873916)
Impairs the production of sorbicillinol (PubMed:27107123, PubMed:28618182)
Change in bacterial surface properties resulting in lack of sliding motility, altered biofilm formation, rough colony phenotype, slower growth rate and enhanced susceptibility to antimicrobial drugs including rifampicin and erythromycin (PubMed:27825305). Loss of trehalose polyphleates (TPP) production (PubMed:32554804, PubMed:27028886)
Slight enhancement in abscisic acid-inhibited germination. Redundant with LECRKA4.1 and LECRKA4.2
Mutants usually hatch and appear normal in early L1, but become progressively paralyzed later during L1 (PubMed:17142668). Complete larval lethal, typically at late L1 or early L2 (PubMed:17142668). Abnormal bodywall and egg-laying muscle in hermaphrodites, but with no obvious abnormality of pharyngeal muscle or other cell types (PubMed:17142668). Five percent of the progeny from hlh-1, unc-120 double heterozygous parents exhibit partial absence of bodywall muscle and reduced expression of myosin myo-3 (PubMed:17142668). RNAi-mediated knockdown causes a low frequency of embryonic lethality, with embryos arresting paralyzed at the two-fold stage; increases in frequency significantly on an hlh-1 or hnd-1 mutant background (PubMed:15892873). RNAi-mediated knockdown causes those embryos that survive to hatching to become uncoordinated, dumpy larvae (PubMed:15892873). RNAi-mediated knockdown causes abnormalities in muscle, including: altered mitochondrial morphology at day 6 of adulthood, two-fold to five-fold down-regulation of transcript levels at day 7 and significant increase in the number of autophagic vesicles (PubMed:29314608). RNAi-mediated knockdown causes a reduction in average lifespan by 16% (PubMed:29314608). RNAi-mediated knockdown on a daf-2 mutant background causes a dramatic decrease in physical performance at day 18 (PubMed:29314608)
No visible phenotype under normal growth conditions, but mutant seedlings show increased sensitivity to cold and heat stresses
No visible phenotype besides impaired NDH activity
No growth phenotype in phosphate-rich medium (3.6 mM Pi), decreased phosphate uptake in phosphate-depleted medium (PubMed:15731097). Grows faster than wild-type in restricted (Sauton) phosphate-free medium, even after nutrient starvation (PubMed:20933472). Decreased growth in infected BALB/c and C57BL/6 mice for up to 5 months after infection (PubMed:15731097)
Cells lacking this gene show complete abolition of the synthesis of MK-9(II-H2) accompanied by accumulation of MK-9. They have similar growth rates than wild-type in both aerated and hypoxic culture conditions. However, mycobacterial electron transport efficiency is reduced by 3-fold in mutant cells, but mycobacteria are able to maintain ATP levels by increasing the levels of the total menaquinone in the membrane. Proton motive force (PMF) and oxidative phosphorylation are not affected
Insertion mutants are hypoinvasive in the HEp-2 cell assay
In maize kernels, mutations in SU1 result in, increased sucrose concentration, decreased concentration of amylopectin, the branched component of starch, and accumulation of the highly branched glucopolysaccharide phytoglycogen
In adult hermaphrodites, double RNAi-mediated knockdown with oma-1 results in a 20% reduction in number of eggs laid. Triple RNAi-mediated knockdown with oma-1 and oma-2 results in a 85% reduction in number of eggs laid
Decreased levels of glr-1 in the ventral nerve cord and corresponding defects in glr-1-dependent behaviors including reduced spontaneous reversal frequency and reduced responsiveness to the nose touch assay which normally induces backward locomotion. Increased levels of ubiquitinated glr-1
No visible phenotype under normal growth condition, but mutant plants show reduced sensitivity to microtubule-disrupting drugs (PubMed:19392697). Short roots with abnormal twisting (e.g. leftward skewing) in media containing microtubule-disrupting drugs (e.g. oryzalin) (PubMed:28848569)
RNAi-mediated knockdown in males results in impaired female sexual development following pairing characterized by loss of vitellaria and ovary differentiation and egg production (PubMed:35385687). Severely reduces NRPS mRNA induction in males and downregulates NRPS mRNA in females post-paring (PubMed:35385687). Also, production of beta-alanyl-tryptamine (BATT) is impaired in males (PubMed:35385687). RNAi-mediated knockdown in females has no effect on the development of the vitellaria or egg production (PubMed:35385687)
Mice are viable and fertile, exhibit normal kidney and lung function, but show a severe reduction in cardiac contractility, and are highly sensitive to severe acute lung failure (PubMed:12075344). Mutant males exhibit an absence of SLC6A19 in small intestine brush border membranes, but normal SLC6A19 expression in kidney (PubMed:19185582). Abolished sodium-dependent transport of isoleucine in intestinal rings (PubMed:19185582). Transgenic mice overexpressing ACE2 in the heart appear healthy but show conduction disturbances and ventricular arrhythmias which leads to sudden death (PubMed:12075344)
Morpholino knockdown show mild, intermediate, and severe phenotypes. Embryos with severe phenotype display a disrupted body pattern, embryos with intermediate phenotype show defects in the head and eye structures, while embryos with mild phenotype only show a twist in the terminal part of the tail. Embryos do not show important cell loss in diencephalic dopaminergic (DA) neuron clusters
Mice exhibit increased fat mass and higher plasma glucose levels compared to wild type mice. Male mice also exhibit a decrease in free fatty acids and higher blood pressure
Gametophytic lethal in homozygote plants (PubMed:22307646). Slightly shorter roots (PubMed:22307646). The double mutant syp41 syp42 have short roots (PubMed:22307646). The double mutant syp42 syp43 exhibits severe pleiotropic defects, including short roots, a large number of lateral roots, semi dwarfism and early senescence; these phenotypes are associated with defective secretory and vacuolar transport pathways (PubMed:22307646). Double mutant plants syp42 syp43 have an increased sensitivity to the powdery fungus Golovinomyces orontii with leaf chlorosis in a pathogen-inducible salicylic acid (SA) biosynthesis-dependent manner, thus revealing a biotic stress-induced and SA-dependent chloroplast dysfunction (PubMed:22307646). Plants lacking the three genes SYP41 SYP42 and SYP43 are seedling lethals (PubMed:22307646)
Normal development and viability (PubMed:16894030, PubMed:17068333). Acute sensitivity to infection by Gram-negative bacteria with failure to induce expression of antibacterial peptide genes and inability to mount a proper innate immune response (PubMed:16894030, PubMed:17068333, PubMed:24374974). Loss of cleavage and nuclear translocation of Rel (PubMed:17068333, PubMed:24374974). Increased activity of the effector caspase Drice and increased apoptosis following x-ray irradiation (PubMed:18166655). Reduced ion channel expression in Malpighian tubules (PubMed:24374974)
RNAi-mediated knockdown reduces both the longevity-extending effects and generation of reactive oxygen species when exposed to 1 microM N1-methylnicotinamide
Locomotor abnormalities beginning at 2 weeks of age (PubMed:12368912). Hypomyelination, decompaction of myelin, demyelination, axonal swelling and fiber degeneration (PubMed:12368912)
Mutants are unable to use heme as a source of iron
Double espI-eccD1 mutants abolish EsxA and EsxB secretion, but not their expression (PubMed:14557547). Disruption abolishes EsxA and EsxB secretion, but not their expression (PubMed:14557536). Results in a lack of antigen specific immunogenicity and leads to attenuated virulence (PubMed:16368961). Mutants exhibit defects in bacterial growth during the acute phase of C57BL/6 mouse infection, but survive for 140 days despite a wild-type bacterial load in the lungs at 100 days post-infection, suggesting the pathway is required for virulence (PubMed:14557536). Nearly wild-type levels of IL-12 p40 (IL12B) and TNF-alpha are produced by infected murine macrophages, while the nitric oxide response is about 50% reduced (PubMed:14557536). Mouse macrophages do not induce cGAMP production, and thus do not sense bacterial DNA correctly to induce the innate immune response (PubMed:26048137)
Male mice are infertile, their sperms exhibit disorganized mitochondrial structure and the sperm-abundance of mitochondrial proteins and activities of mitochondrial respiratory chain complex IV, and ATP levels are significantly reduced (PubMed:26265198). Epididymal sperm possess seriously disrupted midpieces, leading to a severe reduction in sperm motility and infertility (PubMed:26265198)
Results in the production of reduced, though significant, amounts of trichosetin (PubMed:28379186)
Deficient mice display reduced levels of plasma glucose, elevated plasma insulin levels, increased plasma 3-hydroxybutyrylcarnitine and increased urinary 3-hydroxyglutarate. Islets isolated from knockout mice have increased amino acid-stimulated insulin secretion and higher sensitivity to leucine-stimulated insulin secretion
Plants display an immediate onset of growth and developmental defects and reduced fertility, probably due to impaired telomeres (PubMed:19064932). In nearly all mutants, apical dominance is completely abolished, leading to multiple inflorescence bolts that are often fused (PubMed:19064932). In addition, floral phyllotaxy is perturbed and siliques develop at irregular positions on the inflorescence bolt (PubMed:19064932). Moreover, leaf size is substantially reduced, likely reflecting defects in cell proliferation (PubMed:19064932). These effects are accompanied by catastrophic loss of telomeric and subtelomeric DNA, high levels of end-to-end chromosome fusions, increased G-overhang signals, and elevated telomere recombination (PubMed:19064932). Progressive loss of telomeric DNA and gradual onset of telomere dysfunction (PubMed:25299252). Hindered re-replication of heterochromatic regions (PubMed:25299252)
Male are sterile due to disruption of sperm connecting piece formation, leading to acephalic spermatozoa in the epididymis and ejaculates
Increased size of rosette leaves, increased plant height and increased length of siliques
Deletion mutant has higher susceptibility to silver and shows an increase in copper accumulation
Changes the gray-green conidial pigment to a brown color and reduces the ornamentation of conidia (PubMed:16988817, PubMed:26972005). Reduces overall laccase activity only during sporulation, but not during vegetative growth (PubMed:16988817). Causes enhanced insect mortality compared to the parent strain in a wax moth Galleria mellonella infection model, probably through exacerbated immune response of the wax moth (PubMed:19156203)
Reduced association of NRPE1 with chromatin, leading to altered chromatin binding of the DDR complex (PubMed:19013275, PubMed:22864289). Defective in RNA-directed non-CpG DNA methylation resulting in reactivation of silenced genes and enhancers, whereas methylation of centromeric and rDNA repeats is unaffected (PubMed:15120073, PubMed:15947783, PubMed:15924141, PubMed:16741558, PubMed:19825647, PubMed:18425128). Reduced accumulation of 24-nt siRNAs and reduced DNA methylation of siRNA-directed DNA methylation (RdDM) target loci (PubMed:19204117, PubMed:22647529). Increase in CpG DNA methylation leading to abnormal maintenance of some silenced genes (PubMed:15947783). Derepression of solo retrotransposon large terminal repeats (LTRs) and of transposable elements (TE) edges accompanied by reduced cytosine methylation and transcriptional up-regulation of neighboring sequences, and associated with euchromatic histone modifications but little or no H3K9 dimethylation. By contrast, LTRs of retrotransposons that remain silent in disrupted plants despite reduced cytosine methylation lack euchromatic marks and have H3K9 dimethylation (PubMed:16724114, PubMed:23540698). Decondensation of the major pericentromeric repeats and depletion of the heterochromatic mark histone H3 lysine 9 dimethylation (H3K9me2) at chromocenters, leading to transcriptional reactivation of specific classes of pericentromeric 180-bp repeats and reduced heterochromatin (PubMed:19825650). Relieved exo-Pdsi self-silencing resulting in accumulation of dsRNA and Pdsi-derivating 21-nt mobile siRNAs which increase non-cell-autonomous silencing of endo-PDS in neighboring cells (PubMed:21771120). Increases susceptibility to the necrotrophic fungal pathogen Plectosphaerella cucumerina (PubMed:22242006)
RNAi-mediated knockdown causes the zygote to exit the spermatheca with a pinched morphology and to leave a trailing section behind. Zygotes have a fragmented chitin eggshell with an accumulation of chitin at one end of the embryo, causing polyspermy. In unfertilized oocytes, disrupts the homogenous distribution of cortical chitin synthase chs-1, pseudophosphatase egg-3 and kinase mbk-2 and causes the loss of egg-1 and egg-2 cell membrane localization resulting in their premature accumulation in cytoplasmic puncta
Homozygous mice die in utero at 11.5-12.5 dpc. At 9 months of age, heterozygous mice develop pancreatic islet lesions, from hyperplasia to insulin-producing islet cell tumors, and frequently parathyroid adenomas. Larger, more numerous tumors involving pancreatic islets, parathyroids, thyroid, adrenal cortex and pituitary are seen by 16 months. All tumors show loss of the wild-type allele
Exacerbates bordering behavior, where animals accumulate at the edges of culture media (PubMed:14555955). Enhances clumping/aggregation behavior in a G-protein coupled receptor npr-1 mutant background (PubMed:14555955). Decreases locomotion quiescence, in an npr-1 mutant background, during the sleep-like state called lethargus which occurs during molting between larval and adult stages (PubMed:23764289)
Cells lacking this gene show an absence of the cell wall-bound corynomycolic acids and of beta-(1->2) Araf linkage
Abolished the production of AF-toxin I, but not AF-toxin II (PubMed:15066029). Impairs the pathogenicity to strawberry (PubMed:15066029)
No visible phenotype when grown under long days conditions, but early flowering when grown under short days conditions
Embryonic lethality in homozygotes mice after embryonic day 9.5 (PubMed:29618611). Tamoxifen-inducible Fam210a homozygous knockout mice exhibit decreased grip strength, lean mass of all limbs, bone mineral density, bone biomechanical strength, and elevated osteoclast activity with microarchitectural deterioration of trabecular and cortical bones (PubMed:29618611)
Impairs growth in culture media with D-xylulose as the sole carbon source
Mice lacking isoform 2 are viable and males are fertile. However, females are sterile, their oocytes displaying meiotic spindle defects
Mutant mice are viable and show no overt phenotype. Drastic loss of tubulin acetylation in all tissues anlyzed, including in early embryos. In dorsal hippocampus, but not in ventral hippocampus, the dentate gyrus is slightly deformed, showing a prominent bulge in the lateral blade of the granular cell layers. In addition, the lateral ventricle appears to be dilated (PubMed:23720746). Homozygous mutant males exhibit decreased fertility (PubMed:23748901). Mature spermatozoa from cauda epididymis often show the presence of a cytoplasmic droplet attached to the annulus of the tail, indicative of impaired maturation. The flagella length is also significantly decreased in spermatozoa, especially in those cells with a cytoplasmic droplet. Spermatozoa display significantly lower motility than control sperm. However, sperm flagella display the characteristic 9 + 2 organization of axoneme microtubules (PubMed:23748901)
No formation of (E,E)-geranyllinalool and TMMTT detected
Defective in glycerol 3-phosphate uptake. Noninducible for glpK and glpD. Is able to grow at concentrations of the antibiotic fosfomycin that is not tolerated by the wild-type
Moderatley reduced growth rate during iron starvation and in iron replete conditions. Only displays 1% of wild-type conidiospore production in iron-depleted and replete conditions. Completely attenuates virulence in a mouse model of invasive pulmonary aspergillosis
Reduced crop productivity, but increased accumulation of gamma-4-aminobutyraldehyde (GAB-ald) and higher 2-acetyl-1-pyrroline (2AP) biosynthesis, which influences aroma
Strongly reduced lovastatin biosynthesis. Low levels of lovastatin are released due to complementation by other esterases
Induces an increase in the paired-pulse ratio of AMPA currents in lateral and medial perforant path-granule cell synapses
Contains lower amounts of endogenous abscisic acid and is more resistant to abscisic acid treatment during seedling establishment
Cells lacking this gene are unable to grow on propane and to degrade N-nitrosodimethylamine (NDMA)
Deficient mice are born at normal Mendelian ratios without gross abnormalities in postnatal development. However, deficient mice display significant enhancement of learning and memory accompanied by an increase in the number of hippocampal excitatory synapses in the hippocampus
Exhibits cold sensitivity, a significant increase in cells with fragmented vacuoles, internal accumulation of precursor CPY, increased glycogen accumulation, and displays elongated buds
Male mice lacking both Tnp1 and Tnp2 are completely infertile, but protamine alone are capable of histone eviction (PubMed:15163613, PubMed:15189834, PubMed:15083521). A significant proportion of Prm2 remains unprocessed (PubMed:15163613, PubMed:15189834, PubMed:15083521). Chromatin in mature spermatozoa shows defects in density (PubMed:15189834, PubMed:15083521)
Mutants have poor biofilms (decrease in biomass, surface coverage and mean thickness)
Impaired fiber initiation and elongation
Knockout mice manifest significant embryonic lethality. Growth retardation, lack of neural tube closure, and absence of limb buds are observed at embryonic day 12.5. Surviving mice show growth retardation and retinal dystrophic changes
Reduced growth. Loss of alanine aminotransferase activity and increased light sensitivity alleviated by addition of sucrose and rescued by high CO(2). Higher H(2)O(2) levels in light conditions. Greater root growth in low water potential and upon NaCl-stress
Mice display mitigated inflammatory responses and Th2 responses in house dust mite/HDM-induced asthma model
Plants exhibit a complete absence of 2-hydroxybut-3-enyl glucosinolate accumulation and a decreased resistance to generalist herbivory
Morphant embryos have curved bodies, bent tails and a marked reduction in touch-evoked escape response. Muscle structure is altered and myofibers are sparse and disordered
Strongly reduces the production of acetylaranotin (PubMed:23586797)
Cells lacking this gene have a weak reduction in swarm size
Completely abolishes the production of nectriapyrones but accumulates a demethylated analog of nectriapyrone
Mutant embryos are lethal, displaying variably enlarged cells with multiple nuclei, large vacuoles containing inclusions, abnormal organization of Golgi stacks, and cell wall defects
No obvious phenotype in growth, root and flower development, fertility, reproduction and morphology (PubMed:18267944). Reduced jasmonic acid (JA) accumulation after wounding (PubMed:18267944)
A triple bsdB-bsdC-bsdD deletion mutant no longer converts vanillin to guaiacol, the conversion stops at vanillic acid (PubMed:26658822)
Mutant mice show increased susceptibility to neonatal necrotizing enterocolitis in response to formula feeding, bacterial colonization, and asphyxia/ cold stress
Enhances the cell death defect of ced-3(n2427) mutants. Double knockout with the synthetic multivulva (synMuv) class B proteins lin-9, lin-15B, lin-35 or lin-54 results in 100% lethality during the L1 stage of larval development. Double knockout with the synMuv class B protein lin-53 results in slow larval growth
Death at P1 stage (PubMed:11688560). Newborns have either no kidneys or ureters, only one kidney or ureter, or two small kidneys (PubMed:11688560). The remnant kidneys have disorganized cortical structure, shrunken glomeruli, necrotic proximal tubules and multiple cysts (PubMed:11688560). At day 11.5, embryos have an incomplete ureteric bud outgrowth, fail to form tubules in the mesenchyme and show apoptosis of the mesenchyme (PubMed:11688560)
Homozygous animals die soon after birth due to respiratory distress. Embryos show abnormal innervation of the diaphragm, impaired synapse formation at neuromuscular junctions, and aberrant development of axon fiber tracts in the brain
Knockout mice develop bilateral calcifications in the thalamus, due to the formation of calcium phosphate deposits
The thymus of knockout mice shows a lower medullary accumulation of dendritic cells. Animals have a defective generation of naturally ocurring regulatory T cells
No visible phenotype. Atpgl1, atpgl2 and atpgl3 triple mutants produce smaller leaves and petioles
Impairs the production of ferrichrome A but does not affect the production of ferrichrome (PubMed:20070524)
Homozygous mutant females initially laid eggs but stopped after approximately one week. Many of the embryos derived from these eggs exhibited maternal-effect lethality (PubMed:31839537). The few adults from F1 progeny of homozygous mutant females appear sickly and sub-fertile. Of these, 4% display bilateral gynandromorphism a rare phenotype caused by X chromosome loss during the early embryogenesis. By contrast, embryos from homozygous mutant females displayed X chromosome bridges and second chromosome missegregation and polyploidy (PubMed:31839537)
Reduced plant height, reduced panicle length and reduced seed set
Essential for growth, it cannot be disrupted. As protein levels decrease translating ribosomes, but not individual subunits, also decrease
Disruption of the gene leads to significantly reduced bacterial growth in macrophages and in mice
Abolishes cleistothecial formation, switches to mycelial phase faster, and shows impaired switching to the yeast phase once in mycelial phase (PubMed:22841690). Attenuates virulence in mice and macrophages (PubMed:22841690)
Mice are born at the expected Mendelian frequency. They show reduced body fat and increased mortality during early adulthood with an average life span of about 5 months. Mutant mice produce poorly nutritional milk and are unable to nourish their litters leading in high pre-weaning mortality
Gametophytic lethal phenotype in homozygous plants
Cells lacking this gene are not capable of growth on cyclopentanol or cyclopentanone as a sole carbon and energy source
RNAi-mediated knockdown causes no visible phenotype (PubMed:20153198). RNAi-mediated knockdown in a glp-1(ar202) mutant background causes an increase in the number of sterile animals (PubMed:25552605). RNAi-mediated knockdown in a vab-10(e698) mutant background causes 50 percent larval lethality associated with the detachment of muscles from the epidermis (PubMed:20153198)
Decreases processing of mitochondrial precursor proteins (PubMed:25176146). Impairs mitochondrial function; increases levels of reactive oxygen species (ROS) in cells, impairs oxygen consumption and decreases the membrane potential (PubMed:25176146). Simultaneous disruption of the mitochondrial-processing peptidase subunit MAS1 or the mitochondrial peptidase OCT1 results in synthetic lethality in respiratory conditions (PubMed:25176146). Decreases processing and activity of SOD2 (PubMed:35997162)
No visible phenotype under normal growth conditions, but mutant seedlings show reduction of hypocotyls length when grown under continuous blue light and a short primary root phenotype under UV-B radiation
No visible phenotype, due to the redundancy with MRG1. Mrg1 and mrg2 double mutants are late-flowering under long-day growth conditions
Mutant mice are viable and show no overt phenotype. However, both males and females are sterile. Males fail to produce spermatozoa, and formation of primordial follicles is disrupted in females
Cells lacking this gene fail to grow on uridine as the sole source of nitrogen at room temperature
Diploid pollen grains (dyads of spores instead of tetrads) due to defective meiosis II. Abnormal spindle orientation at meiosis II
Displays defective development of CD8-positive T-cells in the thymus
Knouckout mice show reduced OCT2 tyrosine phosphorylation and reduced OCT2-mediated TEA renal secretion (PubMed:26979622). Knouckout mice are protected from oxaliplatin-induced acute sensory neuropathy (PubMed:26979622). Mice are viable, fertile, and display no apparent phenotypes. This lack of phenotype may be attributable to compensatory roles of the other SRC-family members
Deletion mutant is unable to grow in the presence of Neu5Ac, Neu5Gc or KDN
Significant reduction of fruit guaiacol emissions
Males deficient for both for Tex19.1 and Tex19.2 have impaired spermatogenesis, small testes and are infertile. They show vacuolization and seminiferous epithelium degeneration as early as P16. They have defects in meiotic chromosome synapsis, persistence of DNA double-strand breaks during meiosis, lack of post-meiotic germ cell and up-regulation of MMERVK10C retrotransposon expression. Number of females double knockout for Tex19.1 and Tex19.2 surviving 2 weeks or more is reduced compared to males. Females display normal fertility. Surviving mutants do not present gross somatic abnormalities
Mice have multiple lipid transport defects and have a protective effect against diet-induced hyperlipidemia. They have also a deregulation of CAV1 transport and localization, suggesting that the observed lipid transport defect may be the indirect result of an inability of cells to properly target and/or regulate CAV1 expression
Leads to a reduced production of hypothemycin but an increased production of 4-O-desmethylhypothemycin (PubMed:18567690)
Embryonic lethality around embryonic day 9.5 caused by arrested vasculogenesis in the yolk sac and embryo proper (PubMed:24646517, PubMed:25773539). Embryos also display abnormal neural tube closure (PubMed:25773539)
RNAi-mediated knockdown produces various phenotypes that are the result of reduced rDNA copy number (PubMed:35895823). These include a decreased number of progeny, a progressive loss of fecundity over successive generations, and a number of offspring from male knockdown mutants, exhibit a bobbed phenotype (abnormal cuticle patterns on the abdomen) which is characteristic of decreased rDNA copy number (PubMed:35895823). In addition, the offspring of knockdown mutants display reduced rDNA magnification, a process by which an X chromosome with insufficient rDNA copy number is induced to recover copy number (PubMed:35895823). RNAi-mediated knockdown in the germ line decreases the frequency of non-random sister chromatid segregation (NRSS) for both the X and Y chromosomes (PubMed:35895823)
Deletion negatively influences motility and biofilm formation
Not essential, it can be disrupted. Slightly more sensitive to UV and mitomycin C than wild-type cells
No visible phenotype, due to the redundancy with RNR2A and TSO2. Rnr2a and rnr2b double mutants have no visible phenotype
Disruption inactivates the pyruvate dehydrogenase complex and causes an increase in pyruvate concentration and acidity of the culture medium
No visible phenotype during vegetative growth
Heterozygous mice pups for SLC38A4 die shortly after birth, and only 28% of pups survive to 2 weeks. Heterozygous mice pups have a significantly reduced body and placental weight when the allele is paternally inherited while mice exhibit normal body and placental weight when the allele is inherited maternally
Slightly longer hypocotyls
Abolishes the production of 10-beta,15-alpha-dihydroxyprobotryane, botrydial, and of some of its relatives (PubMed:15986930)
Morpholino knockdown of the protein results in anomalies of the head, brain and kidney. Morphant embryos show decreased head sizes, reduced axonal numbers in the forebrain and midbrain, and disorganization in the hindbrain. As for the renal tissues, morphants show underdeveloped glomeruli with hypoplastic capillary vessels, and abnormal podocytes
RNAi-mediated knockdown in L4 larval stage, causes ectopic membrane extensions from body wall muscles
Insertion mutant shows decreased efficiency of biofilm formation. Disruption affects swarming motility
Mice homozygous for the NOL3-null allele are born normally and externally indistinguishable from littermates of other genotypes. NOL3-null mice grew to adulthood without any abnormalities in their general health and appearance under resting conditions. Under biomechanical stress, NOL3-deficient mice develop accelerated cardiomyopathy which is characterized by reduced contractile function, cardiac enlargement, and myocardial fibrosis. Likewise, under ischemia/reperfusion injury of NOL3-deficient mice have a markedly increased myocardial infarct sizes (PubMed:16505176). Double homozygous knockout mice for NOL3 and SGCD have an enhanced myofiber death and subsequent dystrophic disease (PubMed:24312627)
Pups are born at the expected Mendelian rate and appear normal during the first 14 days after birth. Starting at 14 to 17 days after birth, mice exhibit susceptibility to generalized seizures, followed by full tonic extension, which in mice often results in fatal apne. The average lifespan is 17 days; none survive more than 28 days (PubMed:17925011, PubMed:17634333). At P17 seizures are very rare and abnormal electroencephalograph activity is only present during the seizure. P17 pups have significantly less non-rapid eye movement (NREM) sleep (-23%) and significantly more waking (+21%) than wild-type siblings with no change in rapid eye movement (REM) sleep time. The decrease in NREM sleep is due to an increase in the number of waking episodes, with no change in number or duration of sleep episodes (PubMed:17925011). Auditory neurons from the medial nucleus of the trapezoid body in brain stem are hypoexcitable and fire fewer action potentials than wild-type neurons with significantly smaller threshold current amplitudes (PubMed:17634333). In the inner ear, spiral ganglion neurons display a hyperpolarized resting membrane potential, increased excitability and increased outward potassium currents; this might be because normally channels there are heterotetramers formed by KCNA2 and KCNA4, so the loss of KCNA2 changes channel characteristics (PubMed:23864368)
Necessary at multiple stages in the worm's life cycle, its disruption alters worm growth and development
RNAi-mediated knockdown in young adults results in an increased adult lifespan. At 37 degrees Celsius, levels of reactive oxygen species are reduced compared to wild-type animals. Double knockout with atad-3 RNAi results in an enhanced increase in adult lifespan as compared to the single mutants and wild-type animals
Neonatal death at least 36 hours postpartum. Loss of both Pou3f3 and Pou3f2 leads to abnormal formation of the neocortex with dramatically reduced production of layer IV-II neurons and defective migration of neurons
Abnormally branched root pattern (PubMed:12468724). Hypersensitivity to inhibition by Na(+), K(+) and Li(+) but not Cs(+) (PubMed:12468724). Abnormal PIP2-7 trafficking and subcellular localization leading to a reduced levels at the plasma membrane and abnormal accumulation in globular or lenticular structures (PubMed:25082856)
Synthetically lethal with PBP1a. Deletion of this gene with concomitant depletion of PBP1a leads to progressive reduction in cell size before ultimate lysis. Cell wall synthesis is also dramatically reduced in these cells. On the other hand, cells lacking this gene are unaffected by the depletion of PBP2a
Pale-green leaves with a reduced amount of chlorophylls a and b, and an accumulation of divinyl chlorophylls. Severe reduction of grana stacks in chloroplasts
Impaired motility and outer dynein arm defects
Disruption mutant cannot grow on TMAO or its upstream precursor trimethylamine (TMA) as a sole nitrogen source, although it can grow on dimethylamine (DMA) and monomethylamine (MMA)
Disruption mutant has reduced ability to catabolize D-xylonic acid. YjhG-yagF double mutant cannot use D-xylonate as the sole source of carbon
Arrested embryos at the transition to cotyledon stages of development (PubMed:11779812, PubMed:17993549). Biotin depletion leading to lethality; this phenotype is rescued by exogenous supply of biotin (PubMed:12644697, PubMed:23031218)
Abolishes the production of aspulvinone E in hyphae, but not in conidia
Mice show periimplantational lethality and have defects in the inner cell mass. Conditional knockout prevents the growth of ES cells while forced expression allows ES cells to proliferate without differentiation under conditions that normally do not promote self-renewal
RNAi-mediated knockdown increases lifespan and stress resistance (PubMed:25635753). RNAi-mediated knockdown results in a higher frequency of gene products that arise as a consequence of increased ribosomal frameshifting in response to osmotic stress induced by high salt concentrations in adults (PubMed:30977983). RNAi-mediated knockdown does not result in fertility defects (PubMed:33283887)
Reduced number of constricted and large chloroplasts due to a blocked plastid division (PubMed:16998069, PubMed:32005784). Accumulation of ARC5/DRP5B in the plastid outer envelope membranes (OEMs) at the midplastid constriction site in the cytoplasm (PubMed:32005784)
Deficient mice do not survive beyond midgestation, exhibiting growth retardation, pericardial sac ballooning, and neural tube disorganization (PubMed:9865700). Kif3b +/- mice exhibit schizophrenia-like phenotypes, both behaviorally and histologically. Hippocampal neurons have altered spine morphology and synapse function, and at the cellular level, they display abnormal growth cone morphology (PubMed:31746486)
Mice display an impaired ability to inactivate thrombin or degrade fibronectin in peritoneal cells
Disruption leads to a 40-fold increase in yqjH basal expression
Cells lacking this gene show an altered growth with 3-hydroxybenzoate as sole source, but growth with gentisate and other aromatic substrates (benzoate, 4-hydroxybenzoate, and protocatechuate) is the same as that of wild-type
Homozygous mutant flies are viable and fertile. Mutant embryos show reduced level of phagocytosis, but normal level of hemocytes or apoptosis. At NMJ, mutant larvae show normal patterns of synaptic proteins but increased branch length, bouton number and quantal content in basal synaptic transmission recording
Sensitises spores to SPOK1 encoded poison
Mutant is highly sensitive to HOCl (PubMed:29754824). Disruption mutant displays increased sensitivity to heat stress, but not to oxidative, UV, osmotic and pH stresses. Mutation does not affect the redox state of cytoplasmic, membrane and periplasmic proteins, but mutant shows a decreased expression of several cytoplasmic proteins (PubMed:18657513). Mutant displays overinitiation, hypermutator and filamentation phenotypes with the occurrence of anucleated cells (PubMed:21195694)
No visible phenotype and no effect on flavin metabolite profile and abundances
Deletion of the gene increases sensitivity toward salt stress
A triple pduC-pduD-pduE deletion releases no acetaldehyde when grown on propanediol
Abolishes the production of methymycin, neomethymycin and pikromycin and leads to the accumulation of their precursors
Mice are viable, are born at the expected Mendelian frequency and present no gross abnormalities. They however display a blockade in late T-cell development with defects in thymocyte selection. The number of transitional CD4(+)CD8(int) thymocytes as well as CD4(+) or CD8(+) single-positive thymocytes is lower. Thymocytes show defective positive selection, resulting in fewer mature thymocytes. Negative selection is also impaired. A greater percentage of T-cells have CD4(+)CD25(+)Foxp3(+) regulatory and CD62L(lo)CD44(hi) memory phenotypes compared to wild-type T-cells
Plants show upright attitudes and the absence of laminar joints, ligules and auricules in all the leaves including the flag leaves
Knockouts are viable and appear to be grossly normal. Mutant males and females show meiotic arrest and sterility. Males have significantly smaller testes than control males. Their testes weigh approximately 70% less than control testes. Their spermatocytes and oocytes exhibit failures in chromosomal synapsis, blockades in meiotic recombination, and increased apoptosis (PubMed:29329290). The ovaries of adult female mutant mice are much smaller than those from heterozygous littermates and are devoid of oocytes (PubMed:29329290)
No visible phenotype (PubMed:21205012). 5% of cells have a double septa, 2% of cells are very long. Double dynA-ezrA mutants have longer cells with more double septa than either deletion alone. Double dynA-floT deletions are highly elongated, filamentous and have strong defects in cell shape; cells grow very slowly with an extended lag phase. Double dynA-mreB deletions have strong cell shape defects (PubMed:23249255). Double dynA-floT deletions are less motile than single floT deletions (PubMed:26842743). Increased lipid mobility in the cell membrane. Severe decrease in growth on nisin (causes membrane pore formation) with significant membrane deformation and damage, intermediate decrease in growth on antibiotics acting on lipid II or the membrane (bacitracin and daptomycin). No effect on growth on vancomycin (blocks peptidoglycan cross-links) or gramicidin D (makes small pores). 20-50% increased susceptibility to phage phi29 and SPbeta (PubMed:26530236)
Mortal germline (Mrt) phenotype in which there is a progressive decline in fertility with each generation at 25 degrees Celsius (PubMed:28533440). RNAi-mediated knockdown in a glh-4 mutant background results in smaller P-granules and irregular cytoplasmic localization of the P-granule component pgl-3 in embryos (PubMed:21402787). Quadruple RNAi-mediated knockdown with glh-4, pgl-1 and pgl-3 results in offspring that display 27-89% sterility, abnormal oocytes and do not have embryos in the uterus (PubMed:24746798). These sterile offspring still produce sperm (PubMed:24746798). Furthermore, these offspring may have compromised P-granule integrity as there is diffuse cytoplasmic localization of the P-granule component deps-1, which may cause germ cells to initiate somatic reprogramming (PubMed:24746798). RNAi-mediated knockdown in a double ced-1 and hpl-2 mutant background rescues the reduced somatic cell apoptotic cell defect in the ced-1 and hpl-2 double knockout (PubMed:27650246)
Larva with TALEN-induced zc4h2 null mutations show abnormally pectoral flexed fins, outward positioning of eyes, continuous swimming movements and balance problems at 5 days post-fertilization (dpf) (PubMed:26056227). Also exhibited an open mouth as well as continuous jaw movements (PubMed:26056227). Display a reduction in the number of V2 interneuron precursors in the hindbrain and spinal cord at 24 hours post-fertilization (hpf). Display a reduction in the number of GABAergic interneurons in the midbrain tegmentum at 35 hpf (PubMed:26056227)
Larval lethality. Larvae lacking maternal gny present patterning and morphological defects, including the failure to form a normal head skeleton, a discontinuous cuticle and irregular body contours. Larvae lacking maternal and zygotic gny show severe reduction in cuticle deposition and a complete failure of denticle formation and melanization
Does not affect conidial pigmentation
Null mice displayed altered lipid metabolism and morphological changes in adipocyte distribution. There is reduced adipsin/CFD expression, increased number of smaller fat cells, decreased DGAT1 expression and activity, and less triglyceride storage capacity associated with delayed postprandial clearance. Mice on a high-fat diet exihibited no diet-induced up-regulation of adipsin/CFD expression nor adipocyte differentiation
Hyperpolarization-activated chloride currents are absent in glomerulosa cells of knockout mice
Leads to defects in secretion of degradative enzymes and defects in hyphal extension
Prevents the shortening of period at 27 degrees Celsius, resulting in a long period phenotype. The double mutant cry1 cry2 is impaired in blue light signaling, resulting in long-period, lower-amplitude oscillations at 12 and 17 degrees Celsius and completely abolishing rhythms at 27 degrees Celsius (PubMed:23511208). Plants show reduced root and hypocotyl elongation in an anion channels activation-dependent manner at the plasma membrane, as well a reduced anthocyanin accumulation in blue light (PubMed:8528277, PubMed:12324610, PubMed:16703358, PubMed:21511871, PubMed:21511872, PubMed:9765547). Impaired blue/UV-A wavelengths-mediated inhibition of shoot regeneration (PubMed:22681544). Impaired detection of blue/green ratio in light leading to abnormal inhibition of hypocotyl growth (PubMed:20668058). Reduced attenuating effect of high fluence rates of blue light. This phenotype is stronger in the cry1 cry2 double mutant. Slow rate of curvature at low fluence rates of blue light in cry1 cry2 (PubMed:12857830). Lower anthocyanin accumulation in the phyB cry1 double mutant exposed to far-red light. Reduced chlorophyll levels in the phyB cry1 double mutant exposed to red light. In blue light, impaired cotyledon unfolding and smaller cotyledons, longer hypocotyls and less chlorophyll (PubMed:9733523). Impaired accumulation of reactive oxygen species (ROS) in double mutant cry1 cry2 exposed to high-intensity blue light (PubMed:25728686). Altered blue-light-triggered and singlet oxygen-mediated programmed cell death (PCD) (PubMed:17075038). The double mutant cry1 cry2 exhibits a reduced impact of near-null magnetic field on flowering in lower blue light intensity and short days (PubMed:26095447). Reduced hyponastic growth (differential growth-driven upward leaf movement) in low blue light fluence (PubMed:19558423). The double mutant cry1 cry2 is hyposensitive to the strigolactone analog GR24 (PubMed:24126495). The mutant cry1 exposed to a background of red light show severely impaired stomatal opening responses to blue light. The double mutant cry1 cry2 has reduced stomatal conductance, transpiration, and photosynthesis, particularly under the high irradiance of full sunlight at midday, associated with elevated abscisic acid levels (PubMed:22147516). The cry1 mutants grown in complete darkness have premature opening of the hypocotyl hook (PubMed:22855128). Reduced expression of nuclear genes encoding photoprotective components in response to extreme high light (PubMed:22786870). Reduced shade avoidance syndrome (SAS) when exposed to blue light attenuation (PubMed:21457375). Reduced growth at warm ambient temperatures (PubMed:21265897). Down-regulated local resistance and systemic acquired resistance (SAR) to Pseudomonas syringae pv. tomato (Pst.) DC3000 under continuous light conditions, leading to pathogen proliferation (PubMed:20053798). When grown in blue light, increased growth of lateral roots and reduced sensitivity to auxin (IAA) on this phenotype (PubMed:20133010)
No visible phenotype under normal growth conditions, but mutant seedlings exhibit increased survival rate upon salt stress
Axon guidance defects. R-cell differentiation and cell fate determination are normal, but many R1-R6 axons connect abnormally to medulla instead of innervating lamina
Loss of heat shock but not acid stress response of sigma-E regulon. 10-fold decreased survival in acidified murine macrophages
Embryonic lethal. Embryos display severe developmental defects such as poorly differentiated cuticle, failure of head involution, abnormal gut looping, and defective mouth hooks and dorsal closure (PubMed:25344753, PubMed:25300303). Trichromes are absent (PubMed:25344753). Embryos have a higher sterol content (PubMed:25344753, PubMed:25300303). Embryonic lethality, defective epidermal differentiation and trichome development can be rescued by supplementing embryos with 20-hydroxyecdysone (20E), ecdysone or cholesterol (PubMed:25344753). RNAi-mediated knockdown results in larval lethality at the second instar stage, which can be rescued by supplementing larvae with 20E, ecdysone or cholesterol (PubMed:25300303)
Mice lacking Hax1 fail to survive longer than 14 weeks, due to a loss of motor coordination and activity, leading to failure to eat and drink. They display extensive apoptosis of neurons in the striatum and cerebellum, and a loss of lymphocytes in spleen, bone marrow and thymus
Very poor to no photoautotrophic growth, no O(2) evolution. No assembly of PSII monomers or dimers; the CP43-less monomeric intermediate is assembled
Pale-green sepals and carpels and decreased chlorophyll levels
No visible phenotype, but reduced level of arabinosylation of EXT3 (PubMed:24036508). Short-root-hair phenotype (PubMed:25944827). Hpat1 hpat3 double mutants have an impaired growth of pollen tubes, thereby causing a transmisson defect through the male gametophyte (PubMed:24036508, PubMed:26577059). Hpat1 hpat2 hpat3 triple mutants fail to produce detectable levels of Hyp-arabinosides, have low fertility and shorter pollen tubes (PubMed:26577059)
Grows relatively normally on bacterial plates, but is unable to grow in axenic culture due to a loss of fluid-phase endocytosis. The morphology of growing cells appears flattened, elongate, polarized and dominated by a single large lamella. Able to aggregate but not to form slugs, and does make highly aberrant fruiting bodies. Cells move unusually rapidly and have lost the ability to perform macropinocytosis. Crowns, the sites of macropinocytosis, are replaced by polarized lamellipodia. The majority of F-actin is concentrated in a single large lamella, at the leading edge of the cell. Cells lacking rasS and gefB show that the cell speed of unstimulated, bacterially-grown double mutants is around three times the speed of wild type cells; comparable with both rasS- and gefB- parents and reveal a serious defect in phagocytosis
Impairs damaging of epithelia and induction of p-MKP1/c-Fos-mediated danger responses and cytokine secretion (PubMed:27027296)
No visible phenotype when mice are kept on a vitamin A-enriched diet. Still, mutant mice have impaired vitamin A homeostasis. Four week old mice have reduced levels of retinoids in the liver, due to more rapid vitamin A turnover. When mice are kept on a vitamin A-deficient diet after weaning, they gain weight normally during the first 5 weeks, and then stop gaining weight. Their hepatic retinyl palmitate stores begin to decrease from the moment they are fed a vitamin A-deficient diet and become undetectable after 14 weeks, After this, serum retinol levels decrease rapidly and approach undetectable levels after 24 weeks on a vitamin A-deficient diet. After 23 weeks on a vitamin A-deficient diet, electroretinograms show dramatically decreased amplitudes of the a and b waves in response to light. At the same time, their eyes show impaired contact between the retinal pigment epithelium and the outer segment photoreceptors. Knockout mice exhibit memory deficits (PubMed:26030625)
Germ cells enter meiosis precociously in embryonic testes, due to strong-up-regulation of Stra8
Completely abolishes the production of asperfuranone (PubMed:19199437)
Approximately 17% arrest during embryogenesis and 56% arrest at the L1 developmental stage. Defects present in seam cell positioning and division plane. Unfertilized oocytes in hermaphrodites. Five-fold less sensitive to the inhibitory effects of emodepside or imipramine on pharyngeal pumping. Irregular defecation
kdpFABCQ deletion strains are only able to grow in the presence of K(+) concentrations above 60 uM
Gls2 and alg6 double mutant cells that transfer Man(9)GlcNAc(2) and that are unable to remove the glucose units as they lack gls2, grow at 37 degrees Celsius, but are characterized by swollen cells, displaying pear, lemon and round shapes and have, when grown at 28 degrees Celsius, a phenotype of growth and morphology almost identical to that of wild-type cells, indicating that facilitation of glycoprotein folding mediated by the interaction of calnexin and monoglucosylated oligosaccharides does not necessarily require cycles of reglucosylation and deglucosylation. The gls2 and alg6 double mutant cells grown in the absence of exogenous stress show an induction of the binding protein (BiP)-encoding mRNA. An incubation of intact gls2 and alg6 mutant cells with [(14)C]glucose for 15 minutes in the absence of 1-deoxynojirimycin (DNJ) leads to the production of protein-linked Glc(1)Man(9)GlcNAc(2), Man(9)GlcNAc(2) and Man(8)GlcNAc(2)
Plants do not accumulate reactive oxygen species during disease-resistance reactions, do not up-regulate UV-B-dependent gene expression and are impaired in abscisic acid-induced stomatal closing and in root growth and seed germination inhibitions
Cells lacking this gene do not grow on sphingomyelin as a sole carbon source anymore and replicate poorly in macrophages indicating that M.tuberculosis utilizes sphingomyelin during infection. Moreover, deletion of this gene reduces lysis of erythrocytes by twofold compared with wild-type
Reduced levels of syringyl (S) units in lignins that contain more 5-hydroxyguaiacyl units (5-OH-G), the precursors of S-units. Substitution of sinapyl (S) alcohol-derived substructures by 5-hydroxyconiferyl alcohol (5OHG)-derived moieties in fiber cell walls. No effect on hydroxycinnamic acid amides in pollen. Altered circadian dynamics of stomatal aperture (PubMed:32064655). Increased oil and anthocyanin content in mature seeds, as well as higher mucilage accumulation in the seed coat (PubMed:32354877)
Mice are born with the expected Mendelian distribution and appear normal at birth, but fail to thrive, become dehydrated and die after three to five days. They develop skin atrophy and die due to a lethal intestinal epithelial dysfunction. The colon is shortened and swollen and presents signs of acute inflammation. At the time of death, about 80% of the colonic epithelium is detached
Reduced growth, especially at high temperatures (>21 degrees Celsius), as well as warped and twisted leaves at the later rosette stage (PubMed:12897252, PubMed:23638731, PubMed:24153405). Increased resistance to thaxtomin, a phytotoxin produced by Streptomyces bacteria, due to reduced toxin uptake (PubMed:12897252). Enhanced tolerance to 1-napthylphthalamic acid (NPA), an auxin efflux transport inhibitor which blocks polar auxin transport. Increased tolerance to isoxaben (IXB), a cellulose biosynthesis inhibitor (CBI) (PubMed:23638731). In single mutants, enhanced resistance against virulent pathogens (e.g. oomycete H.arabidopsidis Noco2 and bacteria P.syringae pv. maculicola ES4326) associated with elevated reactive oxygen species (ROS) accumulation and higher expression of pathogenesis related genes PR-1 and PR-2 (PubMed:24153405). The double mutant Atpam16-1 Atpam16l is lethal (PubMed:24153405)
A small proportion of anucleate cells, disrupts nucleoid positioning, leads to premature separation of sister replication forks
No visible phenotype. Does not affect growth on ethanol, glycerol or acetate as a sole carbon source. Does not result in phenotypes related to possible secretion of ammonia. Grows normally on media with low concentrations of ethanol. No effect when screening for allylalcohol and n-propanol toxicity. AlcA and alcS double mutant has no difference in phenotype from alcA single mutant. FacA and alcS double mutant does not differ from a single facA mutant in its ability to grow on a medium with glycerol as a carbon source either alone or in presence of ethanol
Defects in venation pattern in leaves and cotyledons, altered phyllotaxy of vegetative leaves, short roots, delay in leaf initiation and reduced apical dominance
Homozygous KDM5B-null mice are subviable, exhibit vertebral patterning defects, and manifest numerous behavioral abnormalities including increased anxiety, less sociability, and reduced long-term memory compared with that of wild-types. Heterozygous mice appear normal
None observed
Leads to the accumulation of pyranonigrin J
Mice lack both CD4 and CD8 positive mature T-lymphocytes. Displays a complete block in B-Cell development at the pro-B cell stage in the absence of both SYK and ZAP70
Homozygotes deficient mice are deficient in catecholamines, and usually die around embryonic day 11.5-15.5 due to cardiac failure (PubMed:7715703). Increased number of persisting retinal hyaloid vessels due to loss of hyaloid vessel regression at P8 (PubMed:30936473)
Mutants are deaf and show deficits in balance and coordination that become severe at about P14 and exhibit hyperactivity by 5-6 weeks
Homozygous mutants are lethal, seeds failing to germinate or arrested seedlings in early growth (PubMed:24179128). Loss of mitochondrial complex I and low levels of a 650-kDa assembly intermediate associated with a reduced mitochondrial translation activity (PubMed:24179128). Heterozygous plants display delayed bolting and flowering, with small and highly branched inflorescences; they also have sporophytic defects in female and male gametophyte development (PubMed:24179128)
Pleiotropic phenotype with diverse growth defects and early flowering
Mutant shows a lack of methylthiolation of protein uS12 and a decrease in transcription of a subset of genes
A combined deletion of the OSW7 and SHE10 has reduced dityrosine incorporation in the outer spore wall
Deletion of the gene abolishes growth by L-tartrate fermentation
The majority of deficient mice die in midgestation from 10.5 dpc to 12.5 dpc. The mutant embryos exhibit open brain, spinal bifida, microphthalmia, and polydactyly. Inactivation of the protein results also in short and stumpy cilia with an abnormal accumulation of ciliary proteins and defects in Sonic hedgehog signaling
About 80% of the mutant mice die of a seizure-like syndrome between postnatal days 19 and 25; the remaining 20% survive up to 8 weeks of age. No gross abnormalities in tissues analyzed, including heart, lung, spleen, kidney, thymus, liver, intestine, testis, eyes, and muscle. In the CA1 region of the hippocampus, no substantial difference in the dendritic complexity or in the number or size of dendritic spines and normal density of synapses in mutant animals compared to wild-type
Abolishes palmitoylation of ras1 during vegetative growth (PubMed:23843742). Delays mitotic entry (PubMed:23843742)
No visible phenotype during growth under continuous high light (250 umol photons m(-2) sec(-1))
Enlarged thyroid follicles, reduced extension of the thyroid epithelium, and increased levels of Tg/thyroglobulin in the thyroid follicles which fails to assemble into multilayers. Lysosomes are enlarged and CTSK/cathepsin K is absent from the thyroid follicle lumen and mis-localizes to the apical membrane of thyroid epithelial cells
RNAi-mediated knockdown prevents Mn(2+)-induced dopaminergic CEP neuron degeneration (PubMed:23721876). RNAi-mediated knockdown targeted to neurons results in increased total time in sleep bouts (PubMed:29523076)
Viable and fertile. Wings are slightly shorter with a decreased distance between cross-veins
Mutant mice exhibit impaired host defense and NLRP3-dependent inflammatory responses. During LPS-induced sepsis, knockout animals show 60 to 75% reduction in IL1B and IL-18 serum levels compared to wild-type mice. Orogastric challenge with Listeria monocytogenes leads to higher bacterial burdens, discernible weight loss, and 50 to 80% fewer leukocytes expressing active CASP1 in mesenteric lymph nodes compared to wild-type counterparts
Leads to multivesicular bodies sorting defects
In cpm2 and hebiba mutants, impaired jasmonic acid biosynthesis. Flower morphological abnormalities and early flowering. Slight increased susceptibility to incompatible strains of the blast fungus Magnaporthe grisea with higher hyphal growth and impaired phytoalexins (e.g. sakuranetin) production (PubMed:23347338). However, normal sensitivity to compatible strains of M.grisea (PubMed:23347338, PubMed:18786507). Impaired jasmonic acid accumulation in response to wounding (PubMed:18786507, PubMed:23347338, PubMed:14605232). In cpm2 and hebiba mutants, inversed response to light characterized by long-coleoptile phenotype under continuous white (WL), red (RL), far-red (FR) and blue (BL) lights due to impaired photoinhibition of coleoptile elongation, and short-coleoptile in darkness (PubMed:14605232, PubMed:23347338, PubMed:19184094). In the dark, long mesocotyl and short coleoptile associated with protochlorophyllides accumulation (PubMed:14605232, PubMed:15570396). In continuous far red (FRc) light: short mesocotyl and long coleoptile associated with a less pronounced reduction of phyA levels and no shift of the ratio between phyA' and phyA'' and abnormal induction of Pchlide(655) accumulation (PubMed:15570396). Delayed photodestruction of phyA upon activation by RL and FR lights (PubMed:19184094). In etiolated seedlings, higher levels of abscisic acid (ABA) but reduced levels of auxin indolyl-3-acetic acid (IAA) compensed by a strongly enhanced sensitivity to auxin on growth stimulation. Adult mutant plants exhibit excessive light green leaf growth, not erected but hanging downwards and even creeping along the soil. Impaired accumulation of basal O-phytodienoic acid (OPDA) and apical JA in response to red light and wounding. Altered induction of OPR by red light (PubMed:14605232). Reduced male fertility leading to almost sterility with only a few fertile seeds in each panicle (PubMed:14605232, PubMed:23347338). Abnormal flower development characterized by sterile long lemmas, and sometimes elongated palea with additional bract-like organs between the lemma and palea as well as additional anthers and pistils (PubMed:23347338). Early flowering time (heading) (PubMed:14605232, PubMed:23347338). All these symptoms are rescued by exogenous methyl jasmonate (PubMed:14605232, PubMed:19184094). Impaired in Pseudomonas fluorescens WCS374r-mediated induced systemic resistance (ISR) against M.oryzae (PubMed:18945932). Reduced levels of PAL and lignin. Altered riboflavin-induced resistance to Rhizoctonia solani (PubMed:19729221). Reduced sensitivity to salt (NaCl) stress due to a better scavenging of reactive oxygen species (ROS), thus enhancing antioxidative power; lower accumulate of Na(+) ions in shoots but not in roots (PubMed:25873666). Increased sensitivity to the root feeder insect rice water weevil Lissorhoptrus oryzophilus (PubMed:25627217). Severe susceptibility to the root hemiparasite witchweed Striga hermonthica (PubMed:26025049)
Mutant produces only a trace of menaquinone
Embryonic lethality at 10.5-11.5 dpc. Embryos show severe vascular defects in embryo, yolk sac and placenta. Capillaries are abnormally dilated in embryos and yolk sacs and cannot be remodeled into large blood vessels or intricate networks. The embryonic vessels fail to invade the labyrinthine layer of placenta, which impair the embryonic-maternal vascular connection. Defects are not caused by the extraembryonic tissues. Impaired H3K36me3, but not H3K36me2 or H3K36me1
Seedling lethality when homozygous. Pale green and slow growing phenotype when grown on MS medium supplemented with 2% sucrose
Knockout mice for Ubr3 in a B6-enriched background exhibited neonatal lethality associated with suckling impairment, but can be partially rescued if the litter size is reduced. Survived adult knockout mice for Ubr3 had female-specific behavioral anosmia (decreased sense of smell)
Transformation deficient (PubMed:8196543). Loss of expression of at least 165 genes (PubMed:11918817, PubMed:11948146)
Not essential, it can be disrupted. Cell survival is unaffected by several DNA damaging agents
Increase in susceptibility to 4-hydroxy-2-nonenal, paraquat and heat shock and a reduced lifespan
Impairs the production of monodictyphenone, but still enables the synthesis of intermediates until emodin
Displays no obvious abnormalities, have a reduced capacity to generate force during isometric contractions in skeletal muscle
Cells proliferate more rapidly than wild type cells and exhibit supernumerary centrosomes and a cytokinesis defect. They also produce fewer spores at culmination. Form large fruiting bodies with large spore heads
Lateral organs with serrated margins. Irregular shape of floral organs. The double mutant han-2 jag-3 exhibits reduced petal numbers, more serrated sepals and narrower petals (PubMed:26390296)
Premature occurrence of endoreplication during organ development leading to an increased DNA content in hypocotyls and trichomes associated with an increased branching of trichomes (e.g. four to five branches). Reduced accumulation of CYCA2-3 during the S phase leading to a premature exit from the cell cycle, thus triggering the onset of the endocycle. Increased tolerance towards ultraviolet B light (UVB), probably due to the enhanced polyploidization. Considerably larger average cell area in the leaf adaxial epidermis leading to fewer but larger epidermal cells
Plants display altered patterning in the developing root meristem (PubMed:11893337). Larger variation of root tip angles during the dynamic root gravitropic response (PubMed:31299202). Deeper root system architecture (RSA) (PubMed:31299202)
No visible phenotype. The glutamate and glutamine levels were unaffected
Disruption causes the rapid degradation of pigments and salt-sensitive phenotype at alkaline pH
Down-regulation of SS4 during the light period of both short and long day conditions. Deformity of the chloroplasts and their contained starch granules, with an increased number of starch granules per chloroplast
Conditionally lethal, cells are unable to grow at 30 degrees Celsius and less, grow poorly at 37 degrees Celsius, but do grow at 42 degrees Celsius
Inactivation of this gene leads to a strong resistance to ETH
Cells lacking this gene are defective in beta-diglucosyl-DAG and are smaller than wild-type. Diacylglycerol (DAG) is the anchor of the LTA in the mutant
RNAi-mediated knockdown does not affect embryonic or larval development
The inner nuclear and inner plexiform layers in the retina are disorganised at postnatal day 20 (P20). AII amacrine cell populations are randomly distributed or pulled into clumps and rod bipolar show fasciculated dendrites
Reduced levels of proteins with asymmetrically dimethylated arginines. Altered leaf morphology and development (curled leaves), multiple rosettes with an increased number of leaves, delayed flowering, disturbed inflorescence morphology, increased sterility
Disruption of the gene prevents the efficient use of AIRs as a source of thiamine
No effect on chemoheterotrophic growth, and no defects in the production of photosynthetic pigments. When oxygen levels are reduced during chemoheterotrophic growth, mutant cells respond more rapidly than wild-type and display faster accumulation of carotenoids and bacteriochlorophylls
Leads to the accumulation of isotrichodermin, a trichothecene pathway intermediate (PubMed:9435078)
Decreases cleavage of the sde2 propeptide; simultaneous knockout of ubp5 abolishes cleavage (PubMed:28947618). Simultaneous knockout of ubp5 leads to abnormal splicing of introns featuring long spacing between the branchpoint and 3'-splice site (PubMed:36095128, PubMed:28947618). Simultaneous knockout of ubp5 leads to a growth defect and thermal stress sensitivity (PubMed:28947618)
Plants unable to grow photoautotrophically, no detectable PSII activity although under low light (10 umol photons/m(2)/s) on a carbon source plants are green
The lack of CFH alters the microarchitecture of bone and affects osteoblast and osteoclast dynamics
Cells lacking this gene are defective in aerobic degradation of propanediol and display no propanediol dehydratase activity. A triple pduC-pduD-pduE deletion releases no acetaldehyde when grown on propanediol (PubMed:16585748)
Leads to an increase in cellular ceramide levels and a decrease in complex sphingolipid levels (PubMed:36897280). Mildly decreases cellular phytosphingosine (PHS) levels, with no increase in dihydrosphingosine (DHS) levels (PubMed:36897280). Sensitive to Auroebasidin A (IPC synthase inhibitor) (PubMed:36897280). Simultaneous knockout of NVJ2 to leads to myriocin sensitivity (sphingosine biosynthesis inhibitor) (PubMed:36897280). Simultaneous knockout of SUR2 leads to a growth defect (PubMed:36897280)
Cell shape does not change, cells start autolysing earlier. Neither PBP2b (penA) nor rodA can be deleted when this gene is absent
Deletion results in tRNA having 5-hydroxyuridine (ho5U34) instead of cmo5U34
Cells lacking this gene lose IgM-cleaving activity and show an increase of surface-bound IgM antigen. They are also significantly attenuated in survival in blood of a piglet vaccinated once with a bacterin, in comparison to the wild-type
No visible impact on ceramide and glucosylceramide species with C(14) to C(28) fatty acids (PubMed:21883234). The double mutant loh1 loh3 is embryonically lethal (PubMed:21883234, PubMed:21666002). Rare viable loh1 loh3 seedlings have a complete absence of very-long-chain fatty acid (VLCFA) in sphingolipids and exhibit strong dwarf phenotype and altered lateral root outgrowth associated with disrupted early endosomes and an impaired polar auxin transport due to abnormal localization of auxin transporters in the plasma membrane; these phenotypes are in part restored by external auxin (NAA) (PubMed:21666002). Better resistance to submergence under light conditions, but increased sensitivity to dark submergence associated with declined levels of unsaturated very-long-chain (VLC) ceramide species (22:1, 24:1 and 26:1) (PubMed:25822663). The double mutant loh1 loh3, lacking (VLC) ceramides, have an impaired tolerance to both dark and light submergences (PubMed:25822663)
Sensitive to K28 protein encoded by the M28 virus (PubMed:36800387). Cells lacking all 10 proteins of the DUP240 multigene family show no obvious alterations in mating, sporulation and cell growth (PubMed:12101299)
Morpholino knockdown of the protein causes inhibition of neuronal differentiation and an accumulation of neuronal progenitor cells in the anterior neural plate
No visible phenotype; due to the redundancy with NRPB9B. No effect on methylation at RdDM target sites. Nrpb9a and nrpb9b double mutants are embryo lethal
In a double flaA-flaB deletion, cells grow faster and are non-motile, flagellar filaments are non-existent (PubMed:27353476)
The mia1-1, mia1-2, mia1-3 and mia1-4 mutants do not express the protein in the axoneme and display slightly jerky, slow swimming phenotypes, reduced flagellar beat frequencies and defective phototaxis
No visible phenotype under normal growth conditions, but mutant plants exhibit sensitivity to UV-B and decreased DNA repair activity following UV-B treatment
Deletion mutant is manganese sensitive and accumulates high levels of intracellular manganese. Effects are exacerbated in a mneP-mneS double mutant
Abnormal general transcriptome profiling (PubMed:26571494). Reduced ethylene sensitivity (PubMed:27694846)
Morpholino knockdown of the protein results in defects in semicircular canal formation inner ear (PubMed:24067352)
Pigmented seeds. Distorted seedlings with elongated hypocotyl and curled cotyledons. Presence of trichomes and accumulation of anthocyanins on cotyledons. Unusual pattern of storage product accumulation in seedlings
Cells lacking this gene show no changes in gene induction following hypoxia, or exposure to NO or CO (PubMed:18474359). Another publication shows a slightly reduced response to CO (PubMed:18400743). Cells lacking both this gene and DevS (DosS) have no response to hypoxia, or exposure to NO or CO showing both proteins are required for the hypoxic, NO and CO responses (PubMed:15033981). 30% decreased induction of the DevR (DosR) regulon during anaerobic growth, 50% decreased induction of the DevR regulon upon exposure to NO during aerobic growth (PubMed:19487478)
Conditional knockout in male germ cells results in infertility, abnormal sperm morphology, significantly reduced sperm count and sperm mobility
Mice lacking PACS1 have reduced numbers of B-cell progenitors in the bone marrow starting at the pre-B cell stage, normal numbers of developing T-cell subpopulations in the thymus, and a reduction in splenic follicular B cells. ER Ca2+ efflux in PACS1-deficient lymphocytes is defective after antigen receptor stimulation, while ER stress and sensitivity to oxidative stress are increased. B cells have reduced IP3R expression, and show spontaneous loss of quiescence evidenced by increased proliferation and apoptosis in lymphocyte-replete environments in vivo
Early seeds germination on imbibition without stratification, and reduced abscisic acid (ABA)-mediated inhibition of stratified seeds germination (PubMed:26334616). Pollen grains of the double mutant abcg9 abcg31 shrivel up and collapse upon exposure to dry air, and exhibit an immature coat containing reduced levels of steryl glycosides, thus leading to a low viability (PubMed:24474628)
60% of embryos die 7 days post-fertilization (PubMed:32075961). Embryos have cardiac developmental defects including a lack of cardiac looping and atrio-ventricular conduction defects with dysynchronous beating rhythms (PubMed:32075961). Increase in RTN4 protein expression levels (PubMed:32075961). Morpholino knockdown causes apparent sarcoplasmic reticulum membrane vacuolization in ventricular tissue along with structural discontinuity between sarcomeres (PubMed:32075961)
Cells lacking this gene are shown to be highly attenuated in a mouse tuberculosis model (PubMed:14569030). Required for growth on cholesterol (PubMed:21980284)
No magnetic response, no magnetosomes, no iron crystals of any sort. MamC is mislocalized in a few punctate spots throughout the cell (PubMed:24816605). No magnetic response at 30 degrees Celsius, a weak response at lower temperature. At 30 degrees Celsius magnetosome vesicles are smaller, sometimes align in a chain with the filament, only a few have very small crystals. Other, possibly precursor magnetosome vesicles are visible. MamC and MamI mislocalized to 1 to a few patches in most cells (PubMed:27286560). Deletion of 3 consecutive genes (mamJ, mamK, mamL) leads to cells devoid of magnetosomes or a magnetic response (PubMed:22043287). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Deletion of icaB leads to shedding of the PIA polymer from the cell surface to the culture filtrate, and an inability to support biofilm formation. Deacetylated PIA is not observed in the mutant strains. Furthermore, these strains are unable to form biofilms, show significantly higher sensitivity to the effects of antibacterial peptides, their adhesion to epithelial cells is significantly lower than that of the wild-type, their phagocytosis by human neutrophils is highly increased, and their persistence is significantly impaired in a murine model of device-related infection
Mice exhibit decreased osteoblast proliferation, developing low bone mass postnatally. Also display persistent embryonic eye vascularization due to a failure of macrophage-induced endothelial cell apoptosis. Mutant animals exhibit a loss of middle phalanx ossification at 18.5 dpc. LRP5 and LRP6 double null mutants are more severely affected. Embryos arrest prior to mid-gestation
Leads to a strong increase of dihydroxynaphthalene (DHN)-melanin production (PubMed:30914505). Results in about 3-fold less glucosamine and a lower level of alpha-linked mannose within the cell wall (PubMed:30914505). Does not affect virulence (PubMed:30914505)
Dwarf phenotype, decreased levels of xylose, ferulic acid and coumaric acid in leaves, and increased saccharification efficiency
Mice show a high incidence of inflammatory lesions in preputial glands. Cells around the lesions showed resistance to apoptosis
RNAi-mediated knockdown from larval stage L1 results in decreased 21U-RNA expression and disrupted distribution of prde-1 foci within the nuclei of germ cells
Delayed secondary cell wall (SCW) formation during tracheary element (TE) differentiation
RNAi-mediated knockdown in L1 larvae results in sterility (PubMed:33283887). RNAi-mediated knockdown in adults results in reduced egg-laying (PubMed:33289480). RNAi-mediated knockdown from day 0 of adulthood or in the germline does not affect lifespan (PubMed:33289480). RNAi-mediated knockdown in somatic tissues reduces lifespan by 10% and reduces body length and results in morphological defects in the gonad leading to the production of no oocytes (PubMed:33289480). RNAi-mediated knockdown increases resistance to heat stress and increases the speed of locomotion (PubMed:33289480). RNAi-mediated knockdown disrupts the localization of the germline-specific protein gld-1, results in collagen deposition and increases cuticle permeability (PubMed:33289480). RNAi-mediated knockdown reduces the methylation of cytosine to 5-methylcytosine (m5C) in 26S rRNA (PubMed:33289480). RNAi-mediated knockdown does not affect the methylation of cytosine 2381 to 5-methylcytosine (m5C2381) in 26S rRNA (PubMed:33289480)
Derepresses filamentous growth and decreases virulence and resistance to cell wall and osmotic stress
Accumulation of D-glutamate in heart. Mice develop normally and do not display any visible phenotype under normal conditions
Defective in protein import into chloroplasts during early developmental stages
RNAi-mediated knockdown leads to a shorter polyadenylation tail in neg-1 mRNA in embryos
Deletion of the gene does not affect the growth of MR-1 in batch cultures, but it leads to a strong reduction of c-di-GMP production (PubMed:33637573). It also results in impaired biofilm formation and decreased current generation during growth on electrode surfaces (PubMed:33637573)
Retina-specific gene disruption leads to decreased light response in rod photoreceptor cells and mislocalization of alpha-transducin from the outer segment to the inner part of rod photoreceptors
Mice with a conditional deletion in the liver display improved hyperlipidemia and insulin resistance: mice show elevated energy expenditure and are resistant to diet-induced obesity and glucose intolerance (PubMed:22863805). Increased stability of Hmgcr, Insig1 and Insig2 and suppression of the SREBP pathway and novo lipid biosynthesis (PubMed:22863805)
Deletion of the gene impacts growth in iron-depleted media. Mutant is partially impaired for staphyloferrin B secretion
No visible phenotype and no significant change in monosaccharide composition of the cell walls
Leads to a severe decrease in conidiation and virulence when ERG5B is also deleted (PubMed:23442154). The absence of both ERG5A and ERG5B seems not to affect the ergosterol production (PubMed:24785759)
Mice are viable and fertile but show increased cellular dNTP concentrations and impaired ability to restrict retroviral replication in lymphocytes, macrophages and dendritic cells (PubMed:23972988). Mice also display interferon (IFN)-beta-dependent transcriptional up-regulation of type I IFN-inducible genes in various cell types indicative of spontaneous IFN production (PubMed:23972988, PubMed:23872947). In addition, the replication of mouse cytomegalovirus is significantly enhanced in mutant mice (PubMed:31548683)
Unable to ferment 1,2-PD, impaired for aerobic growth on this compound
Homozygous knockout fishs lacking minar2 are viable, and the body length and body weight of adults are normal compare to the wild-type. Fishs show hearing loss
Temperature-sensitive with 38% embryonic lethality at 25 degrees Celsius (PubMed:15649460). A large proportion of surviving animals are sterile. Surviving animals also have gonad developmental defects such as defective gonadal arm growth and as a result irregular distal tip cell migration, and 24% of animals had a protruding vulva phenotype (PubMed:15649460). Reduced brood size (PubMed:15328017). Double knockout with lin-35 results in 43% embryonic lethality (PubMed:15328017). Surviving animals develop slowly, are small, sterile and display male and female gonad developmental defects characterized by shorter gonadal arms, fewer germ cells, an everted vulva phenotype, and failed formation of sheath and spermathecal cells (PubMed:15328017). RNAi-mediated knockdown of lin-35 or hpl-2 results in larval arrest at 25 degrees Celsius in an xpn-1 mutant background (PubMed:15649460)
Eliminates more than 99.5% of aspercryptin production (PubMed:26563584)
Pale green phenotype. Abnormal plastids, highly vacuolated and without internal membrane structures like thylakoids
Hyposensitive hypocotyl phenotype under continuous far red (cFR) light and a delayed flowering phenotype under long-day conditions
In both embryo and larva, results in irregularly shaped salivary glands with bulges of variable sizes, leading to greater distances between neighboring nuclei and decreased apical secretion
Worms exhibit abnormal vulva, gonad and male tail development and disruption in embryonic proliferation. Subcellular defects include a lack of microtubule cytoskeleton and excessive chromosomes in oocyte nuclei. Many embryos show a lethal phenotype arrested at the bean stage just prior to the beginning of morphogenesis
RNAi-mediated knockdown in larvae results in reduced survival following infection with the pathogenic bacterium P.luminescens. RNAi-mediated knockdown in a glp-1 e2141 mutant background (in which germ cells are deleted) rescues the increased lifespan phenotype of the glp-1 mutant
In bzr1-1D, weak dwarf phenotype with reduced hypocotyl and petiole lengths and dark green curled leaves when light-grown. Increased cell elongation in the dark. Hypersensitive to brassinosteroid (BR)
Impaired pyruvate uptake
Mutant grows well with sulfate, but is unable to utilize ethanesulfonate as a sulfur source
Loss of zygotic expression results in morphologically normal embryos that hatch as 1st instar larvae. These larvae survive for several days but do not increase in size. Loss of maternal expression causes arrest prior to the cellular blastoderm stage and embryos display abnormal nuclear morphology. Those that escape this early arrest proceed through the blastoderm stage and gastrulate normally, but then almost always arrest during germband retraction with head defects and incomplete dorsal closure
Deletion of the gene increases the HOCl sensitivity. Mutant is more sensitive to methylglyoxal treatment
No visible phenotype. Simultaneous deletion of pgpC and pgpA increases phosphatidylglycerophosphate (PGP) levels almost hundredfold relative to wild-type. In constrast, simultaneous deletion of pgpC and pgpB leads to a twofold increase of PGP levels. Lethal when combined with deletion of both pgpA and pgpB
Traditional knockout mutant with dprE1 disruption could not be achieved, suggesting this gene is essential (PubMed:24517327). Conditional knock-down mutant of dprE1 show that down-regulation of DprE1 results in rapid in vitro growth arrest, swelling of the bacteria, cell wall damage, stop of cell division or lysis, decreased survival in macrophages and virulence attenuation (PubMed:24517327). Cells lacking this gene display impaired growth (PubMed:12657046)
Sterility due to failure of both male and female gametophyte development
Impairs the production of sorbicillinol (PubMed:29104566). Abolishes production of trichodimerol and dihydrotrichotetronin in darkness, while trichodimerol stays still detectable in light (PubMed:28809958). Also impacts production of paracelsin in a light dependent manner, with decreased paracelsin levels in light, but likely in an indirect way (PubMed:28809958)
Reduces significantly appressorium formation and virulence
In the double mutant tga9 tga10, reduced male fertility due to defects in male gametogenesis, with early steps in anther development blocked in adaxial lobes and later steps affected in abaxial lobes. Microspore development in abaxial anther lobes leads to the production of inviable pollen grains contained within nondehiscent anthers. In addition, multiple defects in the anther dehiscence program are observed, including abnormal stability and lignification of the middle layer and defects in septum and stomium function. Reduced SPL levels in anthers (PubMed:20805327). Increased sensitivity to flg22 treatment associated with a lack of chloroplastic H(2)O(2)-responsive genes; this phenotype is enhanced in the double mutant tga9 tga10 (PubMed:27717447)
Embryonic lethal (PubMed:27035939). RNAi-mediated knockdown in male germ cells, spermatogonia and surrounding somatic cells results in increased spermatogonia proliferation, failure to complete developmental programs of meiosis and differentiation and ultimately leads to complete male sterility (PubMed:27035939). RNAi-mediated knockdown in female germline results in defective oogenesis (PubMed:24244416)
Phox1, phox3 and phox4 triple mutants and phox1, phox2, phox3 and phox4 quadruple mutants show a 70% reduction in root hair growth (PubMed:28096376)
Leads to complete loss of production of austin
Imairs the production of monacolin K and leads to the accumulation of the monacolin J intermediate (PubMed:19693441)
Double knockouts for KBTBD2 and PIK3R1 have increased body weight, normal fat storage, blood glucose and insulin levels
Loses conidial pigments and exhibits autolytic phenotype (PubMed:19850144)
Recessive embryonic lethality (PubMed:18936247). Hemizygous mutants are viable and survive through embryogenesis, but are either lethal at the larval stage of development or sterile (PubMed:18936247). The oocytes of sterile mutants have extra chromosomes and prematurely exit the prophase stage of meiosis which results in endomitosis (PubMed:18936247). RNAi-mediated knockdown results in embryonic lethality (PubMed:18765790, PubMed:18936247). RNA-mediated knockdown results in defective cell division characterized by irregular chromosome alignment and segregation, longer spindles during chromatid separation, premature spindle pole separation, defective formation of kinetochore-microtubule attachments and chromatin bridge formation during the anaphase stage of mitosis (PubMed:18765790, PubMed:18936247, PubMed:24231804)
Its absence causes arrest of embryo development at the peri-implantation stage. Blastocysts without Cops2 fail to outgrow in culture and exhibit a cell proliferation defect in inner cell mass, accompanied by a slight decrease in Oct4. In addition, lack of Cops2 disrupts the CSN complex and results in a drastic increase in cyclin E. It also induces elevated levels of p53 and p21, which may contribute to premature cell cycle arrest of the mutant
Deletion mutant cannot grow in minimal medium
Exhibits short branched root hairs
No visible phenotype; due to the redundancy with GLDP2. Gldp1 and gldp2 double mutants have a seedling development arrested at the cotyledon stage even under nonphotorespiratory conditions
Cells lacking this gene are unable to grow on phenol, acetone and methylethylketone (2-butanone)
Embryonic lethality when homozygous in non-permissive genetic background (cv. Wisconsin 22) or albino seedlings in permissive background (cv. B73)
Reduced rRNA transcription which results in larval reduced growth (PubMed:29065309). RNAi-mediated knockdown in the fat body results in the mislocalization of nclb from the nucleolus to the nucleoplasm (PubMed:29065309)
Plants show defects in chloroplast biogenesis and a dwarf and albino phenotype. The amount of monogalactosyldiacylglycerol was reduced by 98% in the mutant leaves, indicating that MGD2 or MGD3 cannot compensate for loss of MGD1 function
Deregulated expression of glutaredoxins GRX480, GRXS13 and thioredoxin TRX-h5 leading to enhanced susceptibility to fungal infection (e.g. B.cinerea and A.brassicicola). Altered RNA polymerase II occupancy and histone H3 lysine tri-methylation (H3K36me3) of target genes. Insensitivity to abscisic acid (ABA) and to the ethylene precursor 1-aminocyclopropane-1-carboxylic acid (ACC). Delayed flowering
Results in the loss of zearalenone production but still produces beta-zearalenonol (PubMed:16262793, PubMed:16517624, PubMed:16751498)
Mutant mice are born at the expected Mendelian rate and have normal development. They display substantial reduction of serum calcidiol levels
No visible phenotype under normal growth conditions (PubMed:18443413, PubMed:22826500). Mutant plants display enhanced resistance to the bacterial pathogen P.syringae pv. tomato DC3000 (PubMed:22826500)
Reduced DNA synthesis rate even in the absence of ionizing radiation (IR) (PubMed:19303848). Cells lacking this gene have a reduced capacity to survive IR (from 90% survival to <10(-7)), DNA repair following IR is slow (PubMed:20451472, PubMed:19303848). Single recA mutants rarely reconstitutes the whole genome following IR, and their DNA is not degraded post-IR (PubMed:19303848). A double recA-ddrB disruption shows no signs of DNA repair 24 hours after IR (PubMed:20451472). Double recA-radA deletion mutants have a more severe effect than either mutation alone after IR (PubMed:19303848)
RNAi-mediated knockdown causes severe embryonic lethality (PubMed:10521400). In mutants, during the first embryonic divisions, P1 cell initiates division prior to AB cell, spindles appear abnormal or collapse during anaphase and chromatin bridges and supernumerary centrosomes are often detected (PubMed:14724126). In addition, RNAi-mediated knockdown causes a partial defect in centriole duplication during the first embryonic divisions where 24% of spindles are monopolar and 47% have asymmetric spindles, a decrease in the spindle protein sas-5 levels and occasional bridging of chromatin with no obvious defects in cell cycle progression or mitotic exit (PubMed:21497766). The few surviving animals of RNAi-mediated knockdown lack a vulva resulting from defects in vulva cell induction, vulva precursor cell (VPC) generation and in vulval execution lineage, and are slightly uncoordinated (PubMed:10521400). In L4 larvae mutants, somatic mpk-1/ERK phosphorylation is also severely reduced (PubMed:14724126). In intestinal epithelial cells, RNAi-mediated knockdown causes an accumulation of SNARE proteins including snb-1, snap-29 and syx-4 (PubMed:24192838). RNAi-mediated knockdown at the L1 larval stage in the exocyst component exoc-8 (ok2523) mutant background results in lethality (PubMed:24192838)
Early flowering, reduced plant size and defects in floral morphology in whorls 1-3, but fully fertile flowers (PubMed:12750345, PubMed:16716192). Growth defects due to extra shoot apical meristem (SAM) formation (PubMed:23134555)
Leads to disappearance of all compounds harboring a gamma-butyrolactone ring or containing a carboxylic acid at C-11, but accumulates ustusolate A
Deformity in the gonadal arm (PubMed:11703940). Defective distal tip cell migration (PubMed:11703939, PubMed:11703940, PubMed:15247908, PubMed:26292279). Defective cell corpse engulfment with an increased number of cell corpses (PubMed:11703939, PubMed:11703940, PubMed:11146658, PubMed:15620647). Absent actin 'halos' around early apoptotic corpses, which is likely indicative of defective actin reorganization around the apoptotic cell (PubMed:15744306). Double knockout in an unc-5 or unc-40 mutant background suppresses the distal tip cell migratory defect in the respective single mutants (PubMed:26292279)
Viable but small with slow grow and uncoordinated movements (PubMed:10931870, PubMed:21029864). Synaptic vesicles at neuromuscular synapses are reduced, arranged linearly and are dissociated from the synaptic active zone (PubMed:10931870). Several defects in vesicle recycling including accumulation of endocytic pits at the neuromuscular junctions and accumulation of coated vesicles predominantly at synapses of neurons but also near the Golgi in cell bodies of neurons, muscles, hypodermis and gonadal sheath cells (PubMed:10931870). Accumulation of endosome-like compartments in cholinergic and GABA neurons and diffused snb-1/synaptobrevin distribution along the ventral nerve cord (PubMed:10931870). Neurotransmission defects characterized by reduced endogenous frequency of synaptic vesicle fusion, a reduced evoked current amplitude after one stimulation and a faster decline in evoked response caused by multiple responses (PubMed:14622579). Resistant to paralysis induced by Aldicar, an acetylcholinesterase inhibitor which causes acetylcholine accumulation (PubMed:14622579)
No visible phenotype under normal growth conditions, but mutant plants exhibit severe editing defects in mitochondrial transcripts
Results in faster growth and increased resistances to heat and UV stress (PubMed:34863012). Leads also to increased virulence using S.furcifera as the insect host (PubMed:34863012)
Adults display various phenotypes that appear to be the result of mitochondrial abnormalities and/or mitochondrial dysfunction (PubMed:16672980, PubMed:16672981, PubMed:18799731, PubMed:18443288, PubMed:24901221, PubMed:27906179, PubMed:30772175). In various tissues including the indirect flight muscles (IFM), thoracic muscles, sperm, cardiomyocytes and neurons including the dopaminergic (DA) neurons, mitochondria display abnormalities such as swelling, loss of cristae, fragmentation, aggregation and/or mitochondrial disorganization, and they are dysfunctional resulting in defects such as mitochondrial depolarization, increased reactive oxygen species (ROS) production, reduced ATP, decreased mitochondrial DNA and reduced mitochondrial protein levels (PubMed:16672980, PubMed:16672981, PubMed:18443288, PubMed:18799731, PubMed:24901221, PubMed:27906179, PubMed:23509287). As a result adults are reduced in size, display reduced survival and decreased fertility (PubMed:16672980, PubMed:16672981, PubMed:18799731). They also exhibit age-dependent and progressive degradation of the IFM and DA neurons, especially in the protocerebral posterior lateral 1 (PPL1) cluster, which likely contribute to the observed locomotive defects, down-turned rigid wings and crushed thorax phenotypes (PubMed:16672980, PubMed:18443288, PubMed:24901221, PubMed:27906179). Also affects non-motor behaviors such as reduced learning, intermediate-term memory and irregular circadian rhythms under constant darkness, likely as a result of the neurodegradation (PubMed:28435104). On the surface of mitochondria enriched with a deleterious mutation, negative regulation of larp-mediated protein synthesis is reduced, and as a consequence the transmission of the deleterious mtDNA mutation to the mature oocyte is more random compared to control oocytes which display decreased inheritance of the mutation (PubMed:30772175). RNAi-mediated knockdown increases the net velocity of anterograde mitochondrial transport in motor neurons, whereas retrograde transport is largely unaffected (PubMed:22396657). Double knockout of Pink1 and park display no increase in the severity of their phenotypes compared to single mutants (PubMed:16672980). However, expression of park in Pink1 mutants markedly rescues most of the Pink1 mutant phenotypes, whereas expression of Pink1 in park mutants fails to rescue the defective thorax and abnormal wing position (PubMed:16672980). Double knockout of Pink1 and Drp1 severely disrupts mitochondrial fusion resulting in mitochondrial aggregates and long threads of mitochondrial tubules (PubMed:18443288). Double knockdown with Paris, improves climbing performance defects and rescues decreased mRNA levels of srl, ewg and TFAM, observed in Pink1 mutants (PubMed:32138754)
Leads to complete abolishment of isoquinoline alkaloid production but accumulates a series of benzyl pyrroles, including fumipyrrole
Reduces the autophagy flux induced by nitrogen starvation as well as the flux of the cytoplasm-to-vacuole targeting (cvt) pathway (PubMed:26565778)
Impairs ER stress-induced ER-phagy
Mice develop goitrous congenital hypothyroidism, with enlarged thyroid gland and severely reduced T4 than T3 in the serum and thyroid gland (PubMed:30333321, PubMed:35788623). Animals fed a low iodine diet show more severe growth failure than those fed a normal diet (PubMed:35788623). Develop distal renal tubular acidosis, manifested by metabolic acidosis and alkaline urine pH and in the stomach, stimulated acid secretion is significantly impaired (PubMed:19723628)
None seen
Stationary phase cells lose resistance to killing by endoribonuclease MazF
Reduced size of roots and shoot lateral organs. Accelerated vegetative phase change. Increased adaxial trichome density. Disruption of phyllotaxis of the inflorescence. Reduced fertility. Reduced levels of several miRNAs and increased levels of their targeted transcripts
Cell numbers are significantly reduced in most of the organs. Cell cycle reactivation is delayed in germinating seeds, and a premature switch from mitosis to endoreduplication occurs. Furthermore, a partial loss of root quiescent center (QC) identity is observed
cells exhibit a defect in completing cytokinesis when grown in suspension, suggesting difficulties in regulating cytoskeletal organization required for cytokinesis, although karyokinesis is normal
No visible phenotype under normal growth conditions, but the double mutant plants chr11-1 and chr17-1 are very small and display early flowering and sterility (PubMed:22694359). Premature decline of expression of HSA32, HSP18.2, HSP21, HSP22 and HSP101 after HS in the double mutant plants chr11-1 and chr17-1 (PubMed:27680998)
Deletion of this gene results in phthiocerol dimycocerosates (DIM) deficiency and decreases the ability of the bacteria to infect macrophages
Lethal without exogenous carbon sources. Decrease of total chlorophyll content as well as a decrease in the chlorophyll a:b ratio. Unequally expanded grana thylakoids. Altered expression profiles of plastid genes
RNAi-mediated knockdown in the susceptible strain G3 infected with P.berghei does not affect the numbers of live oocysts and melanized ookinetes in the midgut; however, severely reduces ookinete melanization in a CTL4 RNAi-mediated knockdown background (PubMed:33520733). Simultaneous RNAi-mediated knockdown of SRPN2 and CLIPB10 in female, partially reduces the formation of abdominal melanotic tumors caused by SRPN2 RNAi-mediated knockdown (PubMed:33520733)
Abolishes the production of xenoacremones A, B and C
Slight reduction of shoot length and 2-fold reduction of seed set
Leads to defects in hemoglobin utilization as sole source of iron and decreased virulence on a mouse model of systemic candidiasis
Phytosphingosine (PHS) absent from cell, with an increase in dihydrosphingosine (DHS) (PubMed:36897280). Leads to abnormal cellular complex sphingolipid levels (PubMed:36897280). Simultaneous knockout of SVF1 leads to a growth defect (PubMed:36897280)
Morphant embryos display defective craniofacial patterning, microcephaly, a marked disorganization of axonal patterning in the head, reduced number of axon tracts crossing the dorsal midline, and increased cell death
Mice are completely infertile because of deformed sperm characterized by a bent head wrapped around by the neck and the middle piece of the tail. Lack of Spem1 causes failure of the cytoplasm to become loose and detach from the head and the neck region of the developing spermatozoa
Temperature-dependent increase in lifespan with a modest increase at 20 degrees Celsius and a 30% increase in mean lifespan at 25 degrees Celsius compared to wild-type animals (PubMed:26828939). Reduced fertility with no sperm produced in the spermatheca, accumulation of a sex-determination protein tra-2 in the intestine, no embryos in the uterus, and an increase in the development time to adulthood as evidenced by an expansion of the proximal oocytes at a young adult stage (PubMed:17050737, PubMed:26828939). Reduced ubiquitin-proteasome system function (UBS), particularly in dorsorectal neurons (PubMed:20453865, PubMed:26828939). Enhanced protein stability and increased resistance to protostasis in response to thermal stress and oxidative stress induced by tert-butyl hydroperoxide (PubMed:26828939). Irregular autophagy-lysosome pathway function with increased autophagy coupled with fewer intestinal lysosomes and reduced lysosomal function (PubMed:26828939). RNAi-mediated knockdown of skn-1 or elt-2 in the null mutant results in animals which are smaller and that developmentally arrest before adulthood (PubMed:26828939). RNAi-mediated knockdown results in reduced egg laying, abnormal gonad morphology with expansion of the proximal gonad greater than that of wild-type animals, and defective degradation of polyubiquitinated proteins and leads to an accumulation of these proteins (PubMed:17050737). Also results in delayed removal of paternal mitochondria until 4-fold stage of embryonic development (PubMed:22105480)
Grows significantly slower than wild-type, 30-50% reduction in functional PSII, decreased chlorophyll content, significantly reduced replacement of photodamaged D1 (psbA) (PubMed:18550538). Grows poorly on low light (40-50 umol photon/m(2)/s) and not on higher light, reduced chlorophyll, increased levels of unassembled D1, substantially reduced levels of chlorophyll precursors (PubMed:30061392)
RNAi-mediated knockdown results in not severe delays of border cell migrations in stage 10 egg chambers (PubMed:25308079). Simultaneous RNAi-mediated knockdown of GMF and flr results in an accumulation of F-actin in follicular epithelium of developing egg chambers, border cell migration delays, and in deformation of bristles in the thorax (PubMed:25308079). Simultaneous RNAi-mediated knockdown in border cells of GMF and flr enhances the accumulation of F-actin foci (PubMed:25308079)
RNAi-mediated knockdown results in 60% larval lethality (PubMed:15282156). Surviving animals display uncoordinated locomotion, withered tail morphology, and defects in both CAN neuronal cell migration and axon guidance (PubMed:15282156)
Mice exhibit elevated susceptibility to UV-induced skin carcinogenesis and enhanced rates of spontaneous tumor formation, particularly for lung and mammary adenocarcinomas. DDB2 is haploinsufficient as a tumor suppressor. The spleens of these animals are enlarged due to enhanced lymphoid proliferation while the testes are also enlarged due to reduced rates of apoptosis of testicular germ cells. Fibroblasts from these animals are resistant to p53-dependent apoptosis induced by UV treatment
Mutants are born with the expected Mendelian frequency and show no differences in fertility, gross morphology or body weight (PubMed:28323137). Secondary ossification centers in knee epiphyses are smaller and growth plate maturation is disturbed, but total bone length is normal. Central proliferative and hypertrophic zones are enlarged with higher extracellular matrix volume and rounded chondrocyte morphology at postnatal days P10 and P22 (PubMed:28323137)
Deficient mice are viable and fertile with no obvious abnormalities in size, weight, skeletal development, ossification, or the occurrence of joint disease
Cells accumulate 5'-hydroxyaverantin
No visible phenotype. Fei1 and fei2 double mutants exhibit disrupted anisotropic expansion (e.g. during hypocotyl elongation), impaired synthesis of cell wall polymers, and abnormal cellulose biosynthesis
Deletion mutant does not grow on N-acetyl-D-galactosamine or D-galactosamine
Cells lacking this gene grow more slowly, but also reach a lower cell density than the wild-type. The ability of the mutant to establish an effective root nodule symbiosis with soybean plants is not affected
Simultaneous disruption of the mitochondrial presequence protease CYM1 results in synthetic lethality in respiratory conditions
Abolishes adhesion and invasive growth
A reduction in the expression of purB leads to a reduction in the efficiency of infection by a Vibrio phage
Deletion of the gene triggers a stress response under physiological conditions that results in the up-regulation of a number of gene products, including sigE, and a subset that are regulated by SigE (PubMed:20061478). Deletion mutant shows attenuated virulence in a mouse model of infection (PubMed:18479146)
Cells lack CadA activity (lysine decarboxylase)
Cells lacking this gene may lead to an altered expression of abgT
Moderate changes in the mitochondrial morphology
Produces fumonisins that lack one of the tricarballylic ester functions (PubMed:17147424)
Mutant males exhibit bisexual behavior; they court females but are behaviorally sterile so fail to mate and they exhibit vigorous courtship with other fru mutant males
Leads to the accumulation of aspulvinone E and butyrolactone II
Cells lacking this gene have a greatly increased sensitivity to DNA damaging agents, 25-fold decreased plasmid transformation and only slightly reduced chromosomal DNA transformation (PubMed:10692371). They form anucleate cells 100-times more frequently than wild-type cells during normal growth (PubMed:18684995). DNA damaging agent sensitivity is partially suppressed by disruption of radA and fin (also called sms and subA respectively) (PubMed:11810266)
Cells grow normally under all light regimes tested; it is dispensable for photoautotrophic growth. The deletion strain is more tolerant to photoinhibition, while isolated PSII complex contains less PsbK and Ycf12 than wild-type and also has reduced oxygen-evolving capacity
Completely abolishes the production of herqueinone
Embryonic lethal. Partial deficiencies disrupt megakaryocyte maturation, platelet shedding and provoke neutrophilic autoinflammatory disease
Plants have a bushy phenotype with crinkled leaves and retarded vascularization
PknA depletion in M.tuberculosis results in cell death and aberrant cell morphology, and leads to complete clearance of the pathogen from the host tissues using the murine infection model
Plants lacking both CGR2 and CGR3 (cgr2-1 cgr3-1) exihibit severe defects in plant growth and development (e.g. shorter hypocotyl and primary root length due to reduced cell elongation, and abnormal pollen tube elongation), as well as reduced levels of pectin methylesterification associated with decreased microsomal pectin methyltransferase activity. The double mutant cgr2-1 cgr3-1 also lacks uronic acids and methyl ester (PubMed:25704846). Reduced HG methylesterification in cgr2-1 cgr3-1 double mutant results in thin but dense leaf mesophyll that limits CO(2) diffusion to chloroplasts and reduces leaf area, thus impairing photosynthesis efficiency and carbon (C) partitioning (PubMed:27208234)
Mutant worms are morphologically similar to the wild-type but exhibit mild swimming defects and are lethargic with their movement being interrupted by frequent pauses when crawling on a food-free environment (PubMed:24212673). On the same environment, in other occasions they display decreased rates of spontaneous reversal and steering, and slightly increased average speed (PubMed:23950710). Homozygotes are fully resistant to monepantel but heterozygotes are partially affected by the drug with reduced fertility and slightly impaired movement
Over-methylated genomic DNA. Increased shoot branching and reduced transcription of FLC leading to early flowering, associated with a decrease in the acetylation level in histone H3 and H4 of FLC chromatin
Formation of aberrant N-glycan structures
Deletion mutant is only marginally affected in medium that contains only free amino acids as a source of amino acids. Mutant shows almost no change in serine and L-threonine uptake, but shows a strong decrease in L-alanine uptake. SerP1/serP2 double mutant is completely devoid of uptake activity of either L-serine, L-threonine or L-alanine
No visible phenotype. Increased sensitivity to salt stress
Mutants produce anucleate cells and show defects in nucleoid structure and in chromosome partitioning
Increased nodulation in plants infected by S.meliloti expressing modified inefficient Nod factors (e.g. nodF nodL) or in the mutant lyk3-4 infected by wild-type S.meliloti
Impairs the resistance to itraconazole of the azole-resistant strain TIMM20092
Absence of entire pollen aperture, leading to male sterility
Defective embryo arrested at cotyledon stage (PubMed:15266054). Hypersensitivity to salt (NaCl) stress leading to reduced roots and shoots growth and altered germination, and associated with altered sodium (Na) homeostasis and over-accumulation of reactive oxygen species (ROS). Hypersensitivity to hydrogen peroxide H(2)O(2) and methyl viologen (MV) (PubMed:24009530)
No visible phenotype when grown under normal conditions. Strong reduction of aluminum-activated citrate release and small decrease in aluminum tolerance
Reduces the number of conidia, and decreased and delayed mRNA accumulation of the key asexual regulatory genes brlA, abaA and vosA during asexual spore formation (PubMed:23049895). Down-regulates genes associated with spore maturation and up-regulates certain development-associated genes (PubMed:24391470). Results in elevated accumulation of beta-glucan in asexual spores (PubMed:25960370)
No effect on extracellular glucosyltransferase activity, nor on growth characteristics
Cells lacking this gene cannot grow on either mannitol or glucitol as sole carbon source
No visible phenotype under physiological conditions; due to the redundancy with ST3GAL3. Simultaneous knockdown of ST3GAL2 and ST3GAL3 results in markedly fewer offspring and impaired nervous system function at weaning (PubMed:22735313). Knockout mice show reduced nerve injury-induced neuropathic pain in response to noxious stimuli (hyperalgesia) and to normally innocuous stimuli (allodynia) (PubMed:32030804)
Cells lacking this gene lose the ability to grow on arginine as the nitrogen source. The disruption of this gene also impairs ornithine catabolism
Mutant still produces endophenazine A, but does not produce FNQ I
Deletion of the gene affects the overall stability of the cytoplasmic sorting platform (PubMed:28283062). Disruption mutant is defective in its ability to enter cultured epithelial cells (PubMed:8045880)
Spontaneous sporadic apoptotic death. Higher sensitivity toward endotoxin challenge. Abrogated TNF-alpha-induced NF-kappa-B activation and reduced induction of NF-kappa-B-regulated genes. Impaired TNF-alpha-induced I-kappa-B-alpha degradation and nuclear translocation of p65 in RTECs. Reduced expression of LMP2
Exhibits significantly increased sensitivity to amine fungicides, including tridemorph, fenpropidin and spiroxamine, but not to non-amine fungicides
No effect on Pi accumulation, due to the redundancy with SPX2. Spx1 and spx2 double mutants have an increased root-to-shoot growth ratio and a reduced rot hair size when grown in Pi-sufficient conditions
Cells lacking this gene grow normally, suggesting there is a second functional gene with valine-tRNA synthetase activity in B.subtilis
Enhanced low sulfur tolerance with higher rate of sulfate uptake at low sulfate levels. Improved tolerance to heavy metal (e.g. CdCl(2)) and oxidative stress (e.g. paraquat)
Inhibition of pollen germination and retarded pollen tube growth
Mutant is nonmotile. It has an intact but paralyzed flagellum, and shows a decrease in virulence
Mutants display an overdeveloped neuromuscular junction (NMJ), with the number of boutons greatly increased
Depletion results in lemon-shaped cells that possess defects in the integrity of the cell wall
Formation of an incomplete shoot apical meristem (SAM), abnormal vegetative development with alteration of adaxial/abaxial polarity in both coleoptiles and the first leaves. Abnormal spikelet morphology with disruption of organ identity and lemma polarity
Kockout mice have an increase in white adipose tissue mass in both sexes and a decrease in heart mass only in males but no difference in the mass of other organs (PubMed:35882232). Upon treadmill exercise to exhaustion, mutants fatigue earlier than wild types running 20% less distance (PubMed:35882232)
Mice show a loss in TLR7- and TLR9-mediated IFN-alpha production in plasmacytoid dendritic cells demonstrating an important role in innate immune response
Reduced ability to form viable colonies on glucose medium after acute treatment with hydrogen peroxide or chronic exposure to carbonyl cyanide m-chlorophenylhydrazone (CCCP) (PubMed:24648523). Cells are resistant to rapamycin and display reduced TOR signaling (PubMed:27325672). Oxidative-stress response is impaired (PubMed:27325672)
No visible phenotype and no alteration of the sugar composition of cell wall polysaccharides, but accumulation of free L-fucose
Mice display hypomyelination with shorter, thinner myelin sheaths and show breeding and motor coordination deficits (PubMed:31522887). Oligodendrocytes have thinner and more numerous branches in proximal processes (PubMed:31522887). Fewer microtubules are nucleated from Golgi outposts and these are no longer arranged in parallel bundles with their growing plus-ends distal, but show random polarity (PubMed:31522887)
Reduced omega-7 fatty acids accumulation in the endosperm. The endosperm oil of double mutant aad2-3 aad3-3 lacks omega-7 fatty acids
Loss of growth using exogenous gamma-glutamyl peptides as amino acid sources
Leads to sensitivity to calcofluor white and SDS, as well as to thermosensitivity
Increased leaves, flowers and seeds methionine content, and leaf and root S-methylmethionine content under conditions of sulfate starvation. Reduced MGL-mediated isoleucine biosynthesis from methionine
No visible phenotype under normal growht conditions, but the double mutant seedlings rhd6-3 and rsl1-1 do not develop root hairs
Mutant grows very slowly on xanthosine
Mice are viable and fertile but show posterior transformations of the axial skeleton and premature senescence of mouse embryonic fibroblast associated with derepression of Hox cluster genes and Cdkn2a genes, respectively. Mice lacking Phc2 and Phc1 die at an early gestational stage. Mice mutant for Phc1 and/or Phc2 demonstrate that Phc1 and Phc2 mutations affect synergistically the survival of embryos in a gene dosage-dependent manner and thus show functional redundancy of Phc1 and Phc2
Enhanced tolerance to UV-B stress but not osmotic stress. Impaired PR-1 accumulation in response to UV-B
A double cydA/cydB deletion shows increased sensitivity to reductant (beta-mercapoethanol)
Reduced size of various organs due to decreased cell size, increased cell number, and abnormal cell arrangement and microtubule orientation (PubMed:24486766). Brassinosteroid (BR) loss-of-function phenotype with semidwarf plants, reduced length of internodes, erect leaves, up-regulation of BR biosynthetic genes and decreased sensitivity to BR (PubMed:28100707)
Produces thick white aerial hyphae but impairs sporulation (PubMed:20495056). Affects the expression of genes involved in central carbon metabolism including glycolysis, the TCA cycle, and amino acid synthesis (PubMed:20495056). Decreases pathogenicity after inoculation of detached wheat leaves (PubMed:20495056)
Predominant presence of unprocessed hybrid N-glycans (PubMed:16460512). Reduced levels of glycoprotein N-glycans (PubMed:21478158). Increased sensitivity to salt stress (PubMed:18408158)
Lacks carotenoids in the dark and exhibits delayed greening when exposed to light
Impaired cotyledon greening during germination. Seeds are deficient in the phytochrome A (phyA)-mediated very-low-fluence response of germination. Mature plants appear normal
Pupal lethal (PubMed:20194640). Larval neuromuscular junctions (NMJ) display an increase in synaptic bouton number and synaptic area (PubMed:20194640). In Garland cells endosome trafficking is impaired (PubMed:20194640). Early and late endosomes are unable to progress into mature degradative endosomes and lysosomes resulting in enlarged endosomal compartments (PubMed:20194640). In larvae, starvation-induced autophagosomes are significantly decreased in size (PubMed:22493244). However, autophagosomes are able to form and can mature via fusion with endosomes and lysosomes (PubMed:22493244)
RNAi-mediated knockdown results in thinning or even complete loss of commissural axons in embryonic nerve cords
Strong reduction in seed phytic acid with a molar equivalent increase in inorganic phosphate. Strong increase in myo-inositol levels in seeds
50% decrease in biofilm
The majority of pups die within 48h after birth even if there is no major phenotypic differences at birth. Mice reveal a lack of milk in their stomach and show a dramatic loss of mature olfactory sensory neurons
Mice are viable and display no differences in size and body weight (PubMed:26603179). Show acanthosis, hyperkeratosis and scaling of the stratum corneum in plantar skin (PubMed:26603179). Increase in the number of epidermal cell layers and a decrease in the abundance of cytoplasmic keratin filament bundles in suprabasal cells (PubMed:24751727). Large keratohyalin granules of various shapes are evident in the upper suprabasal cells (PubMed:24751727). KRT2 aggregates form in the cytoplasm of keratinocytes (PubMed:24751727). Show no epidermal aberrations of the footpads (PubMed:26603179). Double knockout mice of KRT10 and KRT2 are viable and display no differences in size and body weight (PubMed:26603179). Show a more severe epidermis phenotype as in single KRT10 knockout mice (PubMed:24751727, PubMed:26603179)
Leads to the accumulation of the 2-alkyl salicyl alcohols
Disruption abolishes biosynthesis of both albaflavenone and the albaflavenols, but not epi-isozizaene
Short hypocotyls. Increased sensitivity to osmotic stress (e.g. mannitol), but reduced sensitivity to abscisic acid (ABA) associated with lower levels of abiotic stress-related gene expression but higher ABA biosynthesis genes levels
Seedling lethal. Albino seedlings with yellow and translucent (glassy) lateral organs when grown heterotrophically
Hypersensitive to auxin-mediated induction of lateral roots, within the epidermis and/or cortex, attenuating basipetally transported auxin and graviresponsiveness. Enhanced sensitivity to glucose. Abnormal roots architecture. Enhanced susceptibility to necrotrophic and vascular pathogenic fungi, such as Plectosphaerella cucumerina associated with a disturbed expression of genes involved in cell wall metabolism (e.g. lower xylose content in cell walls)
Decreased DNA methylation primarily at CpG sites in genic regions, as well as repeated sequences in heterochromatic regions. Released transcriptional silencing at heterochromatin regions. Ectopic CpHpH methylation in the 5S rRNA genes against a background of CpG hypomethylation
Viable, but defective in sporulation, white color. Strong induction of disulfide reductase (trxB) and thioredoxin-2 (trxC) that is not further induced by diamide. Acts as a SigR constitutive mutant. A double sigR-rsrA mutant sporulates normally but is more sensitive to diamide
Mutants are unable to colonize mice
No growth on non-fermentable carbon sources like glycerol and lactate and sensitivity to calcofluor white
Deletion mutant loses viability in stationary phase when grown in acidic medium with nitrite. Mutant is sensitive to cadaverine and putrescine but not to spermine or spermidine at pH 9
Increased life span and resistance to UV irradiation and high temperatures
Disruption of this gene abolishes the production of both 2,4-dimethyl-2-eicosenoic acid, a polymethyl-branched fatty acid (PMB-FA), and lipooligosaccharides (LOS). Complementation of the mutant with the wild-type gene fully restores the phenotype
Leads to the accumulation of pyranonigrin H
Deletion of the gene increases swimming motility and early biofilm formation
Gynoecia with aberrant style morphology. The double mutant sty1-1 and sty2-1 has a reduction in the amount of stylar and stigmatic tissues and decreased proliferation of stylar xylem, as well as shorter siliques and rosette and cauline leaves with a higher degree of serration. Hypersensitive to 1-N-naphthylphtalamic acid (NPA), but restored by exogenous application of auxin
Homozygous mice display severe seizures and premature death on postnatal day 15 (PubMed:16921370). Mice show severe motor deficits, including irregularity of stride length during locomotion, impaired motor reflexes in grasping and mild tremor in limbs when immobile, consistent with cerebellar dysfunction (PubMed:16921370). Heterozygous mice exhibit autistic-like behavior, characterized by hyperactivity, stereotyped behaviors, social interaction deficits and impaired context-dependent spatial memory (PubMed:22914087). Defects are caused by caused by impaired GABAergic neurotransmission (PubMed:22914087). Conditional knockout in forebrain GABAergic neurons leads to premature death caused by generalized tonic-clonic seizures in heterozygous mice (PubMed:22908258)
Impairs the production of griseofulvin (PubMed:20534346, PubMed:23978092)
Mutant has negligible hydrogenase activity and is severely impaired in urease activity
Mice show an apparently normal embryonic development except pale phenotype, but show a reduced birth rate (PubMed:25613378). Postnatal growth is severely retarded with macrocytic anemia, B lymphocytopenia, lactic acidosis and bloated stomach, causing lethality within 4 weeks (PubMed:25613378). Mice develop anemia in a cell-autonomous manner by maturation arrest of erythroid precursors with increased reactive oxygen species and premature deaths (PubMed:25613378). B-lymphocyte development is also affected: splenocytes show a reduction in maximal respiration capacity and cellular ATP levels as well as an increase in cell death accompanying mitochondrial permeability transition pore opening (PubMed:25613378). Cells display impaired mitochondrial uncoupling (PubMed:31341297). Cells show impaired autophagy, leading to accumulation of aberrant mitochondria (PubMed:31618756). Mice lacking Slc25a4/Ant1 and Slc25a5/Ant2 in liver still have mitochondrial permeability transition pore (mPTP) activity, although more Ca(2+) is required to activate the mPTP (PubMed:14749836). Deletion of Slc25a4/Ant1, Slc25a5/Ant2 and Slc25a31/Ant4 in liver completely inhibits mPTP (PubMed:31489369). Mice lacking Slc25a4/Ant1, Slc25a5/Ant2, Slc25a31/Ant4 and Ppif lack Ca(2+)-induced mPTP formation (PubMed:31489369)
Tonsl deficiency causes growth deficits, vertebral abnormalities, reduced neutrophil numbers, and death at early stages of larvae development
Reduced DNA methylation (e.g. CHG cytosine) at least on FWA, QQS and SDC loci
Impairs gliotoxin oxidation, leading to unchecked methylation and subsequent significant S-adenosylmethionine (SAM) depletion and S-adenosylhomocysteine (SAH) overproduction which in turn significantly contributes to hypersensitivity to gliotoxin of gliT-deficient A.fumigatus (PubMed:26150413). Results in altered expression of over 200 genes involved in many functions (PubMed:25311525)
Mice are sterile due to profound impairment in motility and morphology of spermatozoa
None seen. An isbD overproducing strain cannot be made in the absence of the sibD gene
Adults show increased sensitivity to cisplatin, sodium arsenite and zinc. RNAi-mediated knockdown results in induction of the unfolded protein response
Mutant flies exhibit impaired homeostatic modulation of presynaptic neurotransmitter release and altered baseline neurotransmitter release transmission
RNAi-mediated depletion in the ependymal cilia results in a near complete central pair apparatus loss and alters the ciliary beat pattern from planar to rotational (PubMed:30383886). Multiple radial spokes proteins, including those in the head, are markedly down-regulated in the cilia (PubMed:30383886)
Double RNAi-mediated knockdown with dcap-1 reduces survival at 20 degrees Celsius
Mutant cannot degrade vanillate or syringate, but it can degrade protocatechuate and 3-O-methylgallate (PubMed:9501423). Mutant shows O-demethylation activity toward both vanillate and syringate in the presence of tetrahydrofolate, indicating that ligH is not directly involved in the O demethylation of vanillate and syringate (PubMed:15090517)
Shows no growth on L-arabinose and strong grwoth reduction on arabinan and arabinogalactan
Impairs the expression of the terrein gene cluster and subsequent production of terrein (PubMed:24816227, PubMed:25852654)
Mutant does not grow under low concentrations of nitrate (PubMed:16594065). Mutant is totally defective in nitrate uptake but shows significant nitrite uptake (PubMed:9006953)
RNAi-mediated knockdown in the whole body or the digestive system and reproductive tract is lethal (PubMed:22157008). RNAi-mediated knockdowin in hemocytes, epiderm, endoderm, mesoderm, respiratory system or nervous system causes no defect (PubMed:22157008)
Embryo lethality. Germination-defective agravitropic seedlings with severely defective root, shoot, and hypocotyl and a vitreous appearance throughout (PubMed:12034904). Defective Cell Walls (PubMed:18256186)
Sensory neuron cilia are longer, not correctly aligned in the amphid channel, more dispersed, misdirected and sometimes turned back towards the transition zone. Abnormal localization of kap-1 along the full cilia length. Abnormal accumulation in the middle of cilia and in the distal segment and reduced speed along the cilium axoneme of components of the IFT machinery kap-1, osm-3, xbx-1, che-11 and osm-5. In a kap-1 mutant background, 30 percent of mutants have branched cilia. In a kap-1 and osm-3 double mutant background, loss of cilia formation
Mice are born at the expected Mendelian rate
Double morpholino knockdown of both glcea and glceb results in dorsalized embryos, with reduced ventral tail fin, kinked tail and an enlarged heart cavity. In severe cases there is significant shortening of the body and tail coiling. Epimerase activity is reduced. Expression of the dorsalizing factor chordin is expanded, whereas expression of bmp2b is reduced, notably in the tail. Expression of gata1 in blood islets is also reduced
Disorganised deposition of Casparian strips
Stronger growth defect in iron-deficient conditions
Viable with no gross defects. Vestibular evoked potentials (VsEPs) are highly abnormal suggesting impaired function of the balance organ, although mice do not display any obvious imbalance behaviors
Loss of amidase activity on MSmB, no production of the mercapturic acid product AcCys-mB. Limited degradation of MS-RifSV, a rifamycin S MSH conjugate. Increased sensitivity to streptomycin, slight increase in sensitivity to rifamycin but no other antibiotics tested. Increased sensitivity to iodoacetamide, N-ethylmalemide (NEM) and redox cycling (oxidant) agents known to conjugate with MSH such as menadione and plumbagin, but not other oxidants
Required for optimal growth
Abnormal, small, and pale green rosette leaves (PubMed:24329537, PubMed:26494759). Low contents in chlorophylls, carotenoids and photosynthetic proteins in leaves. Impaired photosynthetic performance. Increased resistance to salt and flagellin treatment (PubMed:24329537). Increased sensitivity to de-etiolation (PubMed:26494759)
Impaired abscisic acid- (ABA)-, salicylic acid- (SA)- and jasmonic acid- (MeJA)-induced leaf senescence in detached leaves
Mutant animals develop ventrally curved bodies visible at the end of 1 dpf, followed by bilateral kidney cysts in the glomerular-tubular region detectable at 2 dpf. Cilia in the anterior pronephric ducts are already visibly defective at 1 dpf and by 5 dpf, cilia are completely absent from these ducts. On the other hand, cilia from the posterior pronephric ducts remain unaffected. Cilia biogenesis is also defective in the retina, with the outer segments of photoreceptor cells having modified cilia. No visible cilia in the lateral line organ. Pericardial edema is also observed at 5 dpf (PubMed:22102889). Morpholino knockdown in embryos results in laterality defects, a significant reduction or loss of Kupffer's vesicle cilia, and reduction or loss of ptc1 and myod expression (PubMed:19464178). A subset of embryos display shortened body axes and partial or full cyclopia while another subset have severe gastrulation defects (PubMed:19464178)
Cell length is reduced
No obvious developmental defects under normal growth conditions. Simultaneous knockdown of MKK1 and MKK2 results in dwarf and small plants exhibiting a seedling-lethality phenotype
Results in a progressing reduction in egg laying accompanied by a decrease in number of germline stem cells (GSCs) (PubMed:29887366). In the ovaries, results in an increase of Rga pre-mRNA (PubMed:29887366). Results in a decrease in the levels and stability of mRNA and INE-1-containing pre-RNA (PubMed:31730657). Might reduce levels of DIP1 sumoylation (PubMed:31730657). RNAi-mediated knockdown in the germline results in loss of GSCs (PubMed:29887366)
No visible phenotype under normal growth conditions, but mutant seedlings are hyposensitive to growth inhibition mediated by abscisic acid (ABA), and show decreased resistance to dehydration stress
Strong constitutive freezing tolerance. Altered vascular apparatus morphology, and reduced xylan acetylation and secondary wall thickening. Reduced rosette-leaf growth and inflorescence size
Complete loss of response to the chitin elicitor, including loss of MAPK activation, generation of reactive oxygen species, and transcriptional activation. Impaired chitin-mediated resistance against biotic and abiotic stresses such as tolerance to salinity, heavy-metal stresses, and Botrytis cinerea infection. Reduced resistance to incompatible fungi such as Erysiphe cichoracearum and Alternaria brassicicola. Enhanced susceptibility to Pseudomonas syringae pv. tomato DC3000 associated with peptidoglycan insensitivity. Impaired chitin-induced phosphorylation of PBL27 (PubMed:24750441)
Mice have fewer dendritic cells in lymphoid organs and impaired migration of dendritic cells is seen
Viable with no morphological, mobility or chemosensory response defects (PubMed:30230472). Results in defective hygrotaxis behavior which might be related to increased desiccation resistance and overall longer lifespan (PubMed:30230472)
Impairs autolysis
Deletion affects Esx protein secretion and the production of cytokines during bloodstream infection and also impacts the ability of staphylococci to establish infectious lesions and to manipulate cellular immune responses of the host
Mutant mice have a pleiotropic phenotype that includes the absence of yellow hair pigment, curly hair and whiskers, abnormal craniofacial patterning, reduced embryonic viability due to mispatterning of the left-right body axis and age-dependent spongiform neurodegeneration. Many months before onset of vacuolation, mitochondrial complex IV expression and activity is significantly reduced in mutant brains and oxidative stress is increased. A global reduction of ubiquitinated proteins in the brain is observed. At 1 month of age, null mutant mouse brains have less ubiquitinated TSG101, while adult mutant brains contain more ubiquitinated and insoluble TSG101 than wild type. At 1 month of age, significant increase in EGFR levels in the brains of null mutant mice relative to wild-type mice, suggesting an impaired trafficking to the lysosome for degradation
Cells lacking this gene do not replicate in minimal media with 2-ethyl hexyl sulfate as the sole sulfur source, in contrast to wild-type
Reduces ethyl acetate production by at least 50%
Hypersensitivity to C/N conditions during post-germinative growth
Loss of Protein-histidine methylation (PubMed:24865971). Impaired early rRNA processing, resulting in a deficiency of 60S subunits and translation initiation defects (PubMed:24865971). A haploid deletion mutant leads to hypersensitivity to echinocandin-like antifungal lipopeptide caspofungin, a 1,3-beta-glucan synthase inhibitor. Deletion confers sensitivity to the synthetic tripeptide arsenical 4-(N-(S-glutathionylacetyl)amino) phenylarsenoxide (GSAO) (PubMed:15166135)
No visible phenotype in growth, no change in cell wall-anchoring of InlA, no effect on bacterial growth within host cells nor on virulence in a mouse infection model (PubMed:15028680). Loss of cell wall-anchoring of Hbp2 (SvpA); Hbp2 is still secreted and runs with an apparent lower molecular weight in gels (PubMed:15028680). A double srtA-srtB deletion mutant has no cell wall-anchored proteins (PubMed:15028680). No cell wall anchoring of Hbp1 or Hbp2 (SvpA) (PubMed:16247833). Does not impair iron transport (PubMed:15661014, PubMed:16430693). Decreased binding and uptake of hemin at low (0.5 uM and 5 uM) but not high hemin concentrations (at 50 uM no effect is seen) (PubMed:21545655)
Disruption of the gene leads to growth defects and attenuates the virulence of Mtb (PubMed:18172199, PubMed:19011036). Disruption of the gene enhances host innate immune responses, compromises the intracellular survival of Mtb in macrophages, and increases its susceptibility to lysozyme. It prolongs survival and reduces lung immunopathology of infected mice (PubMed:18172199). Disruption leads to earlier and significantly higher levels of key pro-inflammatory cytokines and chemokines (PubMed:21947769). Mutant induces enhanced levels of the key Th1-inducing cytokine IL-12, as well as other pro-inflammatory cytokines (IL-23, IL-6, TNF-alpha, IL-1beta, and IL-18) in DCs via MyD88- and TLR2/9-dependent pathways (PubMed:24659689). Infection with the hip1 mutant also induces higher levels of MHC class II and costimulatory molecules CD40 and CD86 (PubMed:24659689). At low pH, mutants are hypersensitive to antibiotics, sodium dodecyl sulfate, heat shock, and reactive oxygen and nitrogen intermediates (PubMed:19011036). GroEL2 remains uncleaved in the hip1 mutant (PubMed:24830429)
Mutants grow slowly and show uncoordinated or lethargic movements (PubMed:12221132, PubMed:12684004). Increased lifespan (PubMed:19279398). Body is small and slender with a transparent appearance resulting from a thinner cuticle (PubMed:12221132, PubMed:12684004). Reduced number of progeny associated with a retention of late stage embryos in the uterus, a reduced sperm count which appears smaller and smoother and with smaller pseudopods (PubMed:12221132, PubMed:12684004). In addition, serotonin-induced egg laying is delayed (PubMed:12221132, PubMed:12684004). Increased susceptibility to nicotine-mediated paralysis (PubMed:15990870). Impaired CO2 avoidance (PubMed:18524955). Increased number of puncta positive for autophagy marker LGG-1 (PubMed:19279398). Impaired coelomocyte endocytosis, intestinal apical endocytosis and recycling of synaptic vesicles at synapses (PubMed:20803083, PubMed:21345307)
Inactivation of glgM affects the production of extracellular alpha-glucan (two-fold reduction), but not that of intracellular glycogen and 6-O-methylglucosyl lipopolysaccharides (MGLP) (PubMed:18808383, PubMed:27513637). Cells lacking this gene are also impaired in their ability to persist in both the spleen and the lungs of mice (PubMed:18808383). Combined inactivation of both glgM and ostA is lethal, potentially due to accumulation of toxic levels of ADP-glucose (PubMed:27513637). Combined inactivation of both glgM and treS results in absence of alpha-glucan (PubMed:27513637)
Embryonic lethal with anterior-posterior axis formation defects in embryos from 6.7 dpc on until cessation of development at latest in 10 dpc
No visible phenotype under normal growth conditions. Leaves of well-watered mutant plants have increased relative water content due to decreased stomata opening
Mice display balance defects being unable to orient themselves with respect to the gravitational force. This is associated with a defect in otoconia biogenesis in the inner ear
Cells grow much more slowly at 15 degrees Celsius
RNAi-mediated knockdown causes an arrest at the L1 developmental stage (PubMed:19716386). RNAi-mediated knockdown in ASEL neuron results in a severe reduction in Ca(2+) signal in ASEL neuron and in chemotaxis in response to high salt concentrations (PubMed:24013594)
Impaired pollen development and partial male-sterile phenotype
Mild sensitivity to cumene hydroperoxide (CHP) as indicated by growth inhibition assay. No effect on growth after NaOCl treatment
Deficient mice are viable and fertile however they have a specific defect in interleukin-7 (IL7)-driven growth of pre-B cells, as well as IL3-dependent growth of bone marrow-derived mast cells. Triple knockout mice PIM1/PIM2/PIM3 are viable and fertile too, but their body size is reduced at birth and throughout postnatal life due to a reduction in the number of cells rather than cell size
Decreases nucleosomal density (PubMed:25406467, PubMed:19683497). Increases HTA1 RNA level; simultaneous disruption RTT109 alleviates the effect (PubMed:22156209, PubMed:19683497)
No visible phenotype at the levels of the whole plant or chloroplast ultrastructure; due to the redundancy with PORC. Porb and porc double mutants have a seedling-lethal pale-yellow xantha phenotype at the cotyledon stage, contain only small amounts of Chla, and possess chloroplasts with mostly unstacked thylakoid membranes
Decreases the percentage of cells having vacuolar ATG8, impairs ATG9 recycling between the PAS and the cytoplasmic pool, and reduces autophagy by about 60%
Abolishes the production of cercosporin (PubMed:17462021, PubMed:26938470). Leads to yellow-brown mycelia with significant export of colored compounds into the agar (PubMed:26938470)
When associated with disruption in NAC056/NARS1, abnormally shaped seeds, defect in embryogenesis arrested at the torpedo-shaped embryo stage, markedly delayed integuments degeneration, and delay of silique senescence
No visible phenotype under normal growth conditions, but the accumuluation of N-(4-oxoglutarate)-L-cysteinylglycine (deaminated glutathione) in mutant plants is up to 70-fold higher than in the wild type
Mutant lacking this gene is impaired in its ability to grow in metal devoid environments (PubMed:24430377). Mutant lacking znuABC and zupT exhibits a severe growth defect in zinc devoid media, is hypersensitive to oxidative stress and contains reduced levels of intracellular free zinc (PubMed:24430377)
RNAi-mediated knockdown results in the reduced plasma membrane localization and intracellular accumulation of the tyrosine kinase receptor let-23 in vulval precursor cells
A single chpA disruption and double chpA-chpD knockout have no phenotype; a quadruple chpA-chpC-chpD-chpH knockout has delayed aerial hyphae formation and sporulation. A quintuple chpA-chpB-chpC-chpD-chpH knockout has a longer delay in aerial hyphae formation and an almost complete lack of sporulation. The quintuple knockout still expresses ChpE, ChpF and ChpG (PubMed:12832397). Quintuple knockout chpA-chpB-chpC-chpD-chpH has strongly delayed aerial hyphae formation, makes many fewer aerial hyphae but no effect on viability of the spores produced. Further deletion of chpE leads to more severe effects, and on rich media few aerial hyphae are produced after prolonged growth. Those few hyphae do differentiate into spores and have a rodlet layer (PubMed:12832396). Deletion of all 8 chaplin genes on minimal medium leads to severely disrupted aerial hyphae that collapse on the colony surface and are not hydrophobic. A few spore chains can still be made, but they have neither rodlets or amyloid-like fibers. rdlA and rdlB mRNA are down-regulated (PubMed:15228525, PubMed:17462011). Deletion of all 8 chaplin genes on rich medium leads to a reduced abundance of aerial hyphae without rodlets and occasional spore chains on surface hyphae. A complete chaplin-negative plus ram-negative strain (deletion of ramR or the ramC-ramS-ramA-ramB operon) leads to the complete loss of robust aerial hyphae (PubMed:17462011). Deletion of the 3 long chaplins (ChpA, ChpB, ChpC) results in a 24 hour delay in aerial hyphae formation, while rodlets are about 1.5-fold longer than wild-type (PubMed:22296345). Deletion of all 8 chaplin genes significantly reduces cellular attachment to a hydrophobic substrate; thin fibrils instead of fimbrae are detected. The long chaplins (ChpA, ChpB and ChpC, as seen by near wild-type attachment of the hextuple chpA-chpB-chpC-chpD-chpE-chpH knockout) are not essential but may contribute to cellular attachment (PubMed:19682261)
Loss-of-function mutant atIpk2beta-1 (T-DNA insertion) is fully complemented by AtIPK2alpha in tissue but not in seeds, leading to the generation of phytate-free seeds. Increased sensitivity to 6% glucose during seedling development and decreased germination in response to the gibberellin biosynthesis inhibitor paclobutrazol (PAC) (PubMed:29216370)
A non-polar disruption of this gene is no longer virulent in mouse infection
TnrA mutant is impaired in its ability to utilize allantoin, gamma-aminobutyrate, isoleucine, nitrate, urea and valine as nitrogen sources. During nitrogen-limited growth, transcription of the nrgAB, nasB, gabP, and ure genes is significantly reduced in the tnrA mutant. In contrast, the level of glnRA expression is 4-fold higher in the tnrA mutant than in wild-type cells during nitrogen restriction
Abnormal localization of ASH1 protein to daughter cell, with protein mislocalized to mother and daughter (PubMed:15082763). Decreases HO mRNA level (PubMed:15082763)
Mutants have a very sever defect in controlling bacterial replication
Slower growth and dwarfism. Albino phenotype in aging leaves. Decreased number of chloroplasts, but normal lamellar structure retained. Absence of phylloquinone and 97% decrease in the content of plastoquinone
COL8A1(-)/COL8A2(-) mice exhibit decreased proliferation of measngial cells, reduced phosphorylation of ERK1/2 and increased p27(KIP1) expression. Diabetic COL8A1(-)/COL8A2(-) mice reveal reduced mesangial expansion and cellularity and extracellular matrix expansion
Lethal during late gestation. Embryos show a retarded development and defects in vasculogenesis and angiogenesis
Eearly flowering (PubMed:23284292). Decreased TATA-binding protein (TBP) levels lower Ser5P Pol II levels near the transcription start sites (TSSs) of target genes and of Pol II at the genes 3'-ends thus affecting the transition from transcription initiation to transcription elongation (PubMed:23284292). Significantly reduced trimethylated 'Lys-4' of histone H3 (H3K4me3) levels at the 5'-ends of WRKY70 and LTP7 genes leading to reduced transcript accumulation (PubMed:23284292)
No visible phenotype under normal growth conditions. Small delay in floral organ shedding
RNAi-mediated knockdown perturbs mitochondrial distribution and dynamics
Mutant shows a partial reduction in acetate uptake
Impairs glutathione reductase activity
Deletion mutants are more sensitive to viral infections with a dramatically increased viral load
Longer roots
Production of amylose-free starch
Death at 6 to 7 weeks of age from renal failure. Mice show defects in epithelial foot processes, accompanied by mesangial cell hyperplasia and extracellular matrix deposition
Decreased accumulation of ASK7/BIN2 at the plasma membrane and impaired polarization of ASK7/BIN2 in asymmetric cell division (ACD) precursors thus leading to its nuclear localization in the meristemoids
No visible phenotype under normal growth conditions, but mutant plants exhibit increased sensitivity to salt stress
No growth phenotype, retains a magnetic response. Magnetosome vesicles are slightly bigger than wild-type while magnetite crystals are equal in number but have a much wider size range
No visible phenotype during normal growth, BREX no longer confers phage resistance
Increased tolerance to aluminum
Impairs the production of oxopyrrolidines A and B
Leads to thermosensitive growth, enhanced caffeine and caspofungin sensitivity, and alterations of cell surfaces. Leads also to a decreased pathogenicity in mice through displaying a greater susceptibility to nitric oxide (NO), a reduced inhibitory effect on macrophage NO production, and an increased capacity of macrophage stimulation by cell wall extracts
Small plants, altered leaf shape and early flowering. Plants lacking RCD1 show enhanced resistance to methyl viologen, tolerance to freezing and supplementary UV-B irradiation, reduced sensitivity to abscisic acid, ethylene and jasmonate, increased sensitivity to ozone and up-regulation of reactive oxygen species scavenging enzymes
Trichome formation on inflorescence stems and pedicels
Highly sensitive to osmotic conditions in low-salt medium and also thermosensitive under low-salt conditions. Shows pronounced filamentation at 42 degree Celsius under low osmolarity, but not at 30 or 37 degrees. Growth in low-salt medium is severely restricted at 30 degrees and no growth is observed at 37 and 42 degree Celsius. Shows increased eDNA production. Produces 100-fold more outer-membrane vesicles making the organism more resistant to toxins, and enhancing survival under stress. Higher sensitivity to ultra high pressure than wild-type counterparts (PubMed:16597971). Strongly represses cell swarming but no effect on cell swimming (PubMed:17122336)
Susceptibility to heat and cold stress
Lead to sensitivity to camptothecin and DNA damaging agents
Large increases in loganin accumulation
Mice lacking Kcnq2 present no overt phenotype, but die a few hours after birth of pulmonary atelectasis which is not due to the status of epileptic seizures
Decreased growth rate; growth is almost completely restored in a triple relA-yjbM-ywaC mutant (PubMed:18067544)
Mice show disrupted cell identity in the ventrotemporal area of the retina and aberrant morphogenesis of the optic chiasm. Their kidneys remain fused, have a disorganised ureteric tree and fail to ascend to a lumbar position
RNAi-mediated knockdown in the bloodstream form abolishes cell population growth
Male sterility because of postnatal spermatogenic defects due to demethylation and subsequent derepression of transposable elements. Piwi-associated small RNA profiles are altered, piRNPs accepting the entry of abundant cellular transcripts into the piRNA pathway and accumulating piRNAs with a profile that is drastically different from wild-type. Piwi proteins are delocalized from the nucleus to the cytoplasm
Embryonic lethality at 5.5-6.5 dpc, showing defects in the visceral endoderm (PubMed:18974783, PubMed:19850877). Heterozygous knockout mice appear normal at birth but develop kidney cysts and solid tumors as they age, probably caused by activation of the mTOR pathway (PubMed:19850877). Conditional deletion in kidney leads to development of polycystic kidneys and renal neoplasia, caused by activation of the mTOR pathway (PubMed:18182616, PubMed:18974783). Conditional deletion in heart causes cardiac hypertrophy with deregulated energy homeostasis leading to dilated cardiomyopathy: defects are caused by mTORC1 up-regulation (PubMed:24908670). Conditional deletion in adipose tissue leads to browning of white adipose tissue (WAT) caused by deregulation of mTORC1 that relieves cytoplasmic retention of Tfe3, leading to direct induction of the Ppargc1b/PGC-1 transcriptional coactivators, drivers of mitochondrial biogenesis and the browning program (PubMed:27913603)
No visible phenotype on standard chow, excepting a lower urinary flow rate (PubMed:16025300). Mice appear normal and are fertile (PubMed:24368895). When kept on a low phosphate diet, both wild-type and mutant mice show strongly reduced urinary phosphate secretion. Still, mutant mice display higher fractional urinary phosphate secretion relative to wild-type, leading to reduced inorganic phosphate levels in blood plasma. The impaired phosphate homeostasis seems to be due to indirect effects on the expression of other transporters, such as SLC34A1 and AQP2 (PubMed:16025300). Principal cells from kidney collecting duct are hyperpolarized, display reduced potassium conductance and strongly reduced quinidine-sensitive potassium channel activity (PubMed:16847696). Besides, collecting ducts from mutant mouse kidney display a larger diameter relative to wild-type (PubMed:16847696)
Impairs the production of phomasetin
Defective embryos with development arrested after the globular stage, at the transition to the heart stage
No visible phenotype in most cases: most mice are viable and fertile. A low percentage of mice show exencephaly
Sterile. Defective chemotaxis with 86% of mutants exhibiting reduced tracking to the chemoattractant ammonium chloride
Plants have pleiotropic developmental abnormalities including embryo development blocked at the early globular stage
Impaired formation of the tetrasaccharide present at 'Asn-532' of S-layer glycoprotein Csg with formation of a tetrasaccharide that is not sulfated. No effect on 'Asn-47' and 'Asn-117' glycosylation of S-layer glycoprotein Csg
Abnormal vacuolar trafficking of soluble cargo proteins, and premature termination of the shoot apical meristem and of floral meristems leading to short siliques and abscission defect (PubMed:23771894, PubMed:25763490). Plant missing both AGD5 and MTV1 are severely dwarfed and have altered subcellular distribution of clathrin-coated vesicle (CCV) cargo exported from the trans-Golgi network (TGN) (PubMed:23771894). Floral organs remain attached to the plant body after the shedding of mature seeds, including abnormal petal breakstrength (pBS) (PubMed:23963677, PubMed:19429787, PubMed:20081191, PubMed:20230490). Ectopic enlargement of abscission zone (AZ) cells during shedding (PubMed:23963677). Impaired floral organ shedding associated with defects in the structure of the Golgi apparatus and extensive accumulation of vesicles adjacent to the cell walls in abscission zone regions (PubMed:19429787, PubMed:20081191, PubMed:20230490). Rescued by SOBIR1/EVR disruption, leading to premature shedding of floral organs and enlarge abscission zones (PubMed:20081191). Rescued by SERK1 disruption, leading to normal Golgi apparatus and endosome, as well as correct floral organ shedding (PubMed:20230490)
RNAi-mediated knockdown results in the accumulation of cytoplasmic aggregates containing the P-granule component pgl-3 (PubMed:24140420). RNAi-mediated knockdown results in the disrupted formation of P-granules in an atg-18 autophagy mutant background (PubMed:19167332)
Deletion of the gene causes significant reduction in GABA chemotaxis and reduces root colonization
Mice show growth retardation, higher mortality (4 weeks after birth) and display hydrocephalus as well as female infertility. Female infertility is probably caused by fallopian tube obstruction. Phenotypes are due to abnormally elongated cilia that cannot generate proper fluid flow
Seedling lethality when homozygous (PubMed:25438943, PubMed:25699591). Degenerated root surface structures and vacuoles with altered morphology (PubMed:25699591). Accumulation of ubiquitinated membrane-associated proteins (PubMed:25699591). Hypersensitivity to abscisic acid (ABA) due to impaired targeting of ABA receptors (e.g. PYL4 and PYR1) for vacuolar degradation, thus leading to their accumulation and an enhanced response to ABA (PubMed:27495812)
No visible phenotype under normal growth conditions, but flowers of the double mutants wih1-1 and wih2-1 have defect in megasporgogenesis. Doubl mutant plants display retarded growth, and twisted leaves, siliques and roots
RNAi-mediated knockdown results in disrupted alae formation in L1 and dauer stage larvae with alae often present on only one side of the larvae
Impaired perceptions of sweet, bitter and umami compounds. Mice are viable and fertile, with no visible morphological abnormalities in their taste buds or any altered expression of taste-related marker genes. They do however display a loss of both preference for sweet and umami compounds and for avoidance of bitter compounds. Perceptions of sour and salty tastes are unaffected. Reduced voltage-gated currents in type II cells and taste-evoked ATP release from taste buds without affecting the excitability of taste cells by taste stimuli. Elderly males and females do not show defects in spatial learning and memory retrieving
Mice show hydrocephalus and the tracheal and ependymal cell cilia show clockwise rotation motion instead of planar beating (PubMed:32203505). All three types of radial spoke heads (RS1, RS2 and RS3) are missing in the tracheal cilia (PubMed:32203505)
Mutant mice are viable and fertile, but display defects in glucose and lipid homeostasis. The precise phenotype may depend on experimental details and genetic background. Mutant mice have normal body weight, but increased plasma glucose and insulin levels (PubMed:17268472). Mutant male mice, but not female mice, display increased body weight gain on standard chow, in spite of similar food intake as wild-type (PubMed:17327425). Mutant mice display increased body weight, both on standard chow and on high fat and high sucrose diet (PubMed:24742672). Male mice have increased total body fat mass after 15 weeks, and have increased weights of both white and brown adipose tissue (PubMed:17327425, PubMed:24742672). Mutant mice have impaired glucose tolerance (PubMed:24742672). Male mice have decreased glucose tolerance, but no significant change in the insulin response (PubMed:17327425). Female mice display increased fasting glucose levels, but unchanged fasting insulin levels (PubMed:17327425). Male and female mice display increased levels of liver triglycerides relative to wild-type (PubMed:17327425, PubMed:24742672). Male mice display decreased locomotor activity and decreased energy expenditure relative to wild-type (PubMed:17327425). Mutant mice display normal revascularization after chronic limb ischemia caused by severing of blood vessels (PubMed:24742672). Hepatocytes from mice lacking both Adipor1 and Adipor2 show loss of adiponectin binding and lack of adiponectin-mediated activation of AMPK and Ppara (PubMed:17268472). Mice lacking both Adipor1 and Adipor2 display elevated glucose and insulin levels in blood plasma, indicative of glucose intolerance and insulin resistance (PubMed:17268472)
Reduced growth rate, dwarf phenotype and delayed flowering
Abolishes growth and conidial germination when propionate is the sole carbon source. Reduces growth rate and numbers of germinating conidia on butyrate, ethanol, citrate and Tween 20. Leads also to delayed conidial pigmentation when grown on non-fermentable carbon compounds as the sole carbon source. Results in decreased tolerance to osmotic stress, shows reduced in vitro antagonism against Botryotinia fuckeliana, and delays root colonization
Cells show an absence of normal peroxisomes
Cells lacking this gene are unable to grow in minimal medium. Addition of lipoic acid only partially restores growth of the mutant strain but the double mutant strain lacking both lipL and lplJ fails to grow in minimal medium containing lipoic acid. Moreover, the lipL mutant cells grow as well as wild-type in minimal medium supplemented with acetate and BCFA precursors
Conditional knockout mice lacking Cldn8 in the collecting duct of kidney show hypotension, hypokalemia, and metabolic alkalosis (PubMed:25831548)
Larvae display reduced nociceptive rolling behavior due to impaired activation of second-order neurons (SONs) in the nociceptive pathway and reduced the synaptic contact between nociceptors and their SONs
Death during embryogenesis. Embryos arrest after gastrulation at E7.5, with a marked increase in mitotic and apoptotic cells. Heterozygous mice are viable but show increased liver and lung cancers in elderly mice. Defects in heterozygous mice are associated with progressive cell cycle delays, increased spindle irregularities and accelerated hepatocellular carcinogenesis, probably due to increased centrosomal amplification, multipolar spindle formation and aneuploidy. The incidence of spontaneous
Larvae mutants are insensitive to touch and have defects in larval locomotion. Adult mutants show defects in motility and coordination and are deaf; lack antenna oscillations and mechanical amplification of stimulus-induced antennal vibrations. Mutant males can mate but are sterile because of amotile sperm; tail axonemes lacked the inner dynein arms
Multivesicular body sorting defects, with large amounts of ubiquitinated proteins detected on endosomes (PubMed:19132102). Bicoid mRNA is mislocalized in developing eggs (PubMed:17268469)
Deficient mice show normal organogenesis and fertility. The loss of core 2 O-glycans on leukocytes is associated with leukocytosis and impaired neutrophil recruitment at the inflammatory site, while lymphocyte homing to peripheral lymphoid organs is not affected
Null mutants are viable, but grow more slowly than wild-type cells at 30 degrees Celsius. They are cold-sensitive, failing to grow at 12 degrees Celsius. They display flocculent growth in liquid media and they show abnormal cell morphologies, for example, a significant fraction of the cells are greatly enlarged. Deletion mutant is sensitive to the DNA synthesis inhibitor hydroxyurea (HU) and UV irradiation
Abnormal linear element formation (PubMed:33825974, PubMed:23395004). Abnormal sporulation (PubMed:33825974)
Delayed seeds germination resulting from an altered mucilage composition. No visible growth defects; probably due to partial redundancy with BXL2. Bxl1 and bxl2 double mutants have shortened siliques and curled leaf edges
No difference in growth in culture up to 120 days. Increased sensitivity to 10 and 20 mM H(2)O(2), no difference in response to growth at 53 degrees Celsius, pH 4.0, 10% ethanol or 0.05% sodium dodecyl sulfate (surface stress). No detectable difference in spleen or lungs of infected BALB/c mice during 15 weeks growth
Morphogenetic defects in which the ventral nerve cord is greatly elongated and the brain hemispheres are misshapen
Null animals show poor overall growth and reduced total brain volume, although the relative volume of certain regions is increased. Mutant mice demonstrate impaired hippocampal-dependent spatial memory, increased spontaneous repetitive stereotypic motor movements and decreased anxiety-like behavior compared to controls
Homozygous embryonic female lethality. Hemizygous embryonic male lethality. Mutant embryos fail to form the midgut due to the failure of endoderm migration. Consequently, the yolk is left as an unenclosed mass that moves to ectopic locations as development progresses causing a variety of terminal phenotypes
Abnormal localization of atg43 to the outer mitochondrial membrane leading to abnormal mitophagy during nitrogen starvation (PubMed:33138913). Leads to extremely slow growth at various temperatures and delayed commitment to mitosis (PubMed:21270388, PubMed:33138913)
Open-husk phenotype after pollination and malformed seeds with low fertility (PubMed:18266905, PubMed:23621526, PubMed:24947835). Increased susceptibility to infection by the rice blast fungus Magnaporthe oryzae (PubMed:23832371)
Delay in flowering time. Plants loose R gene resistance mediated by RPP2, RPP4, RPP5 and RPP7, and show reduced response to auxin, jasmonate and coronatine, and enhanced tolerance to heat shock
Neonatal lethality. A germline-specific conditional knockout produces females that are normal in growth and morphology but display much reduced fecundity in terms of the frequency of successful pregnancy per mating and the litter size. No 5hmC signal is detected in the late male pronuclei of zygotes collected from the conditional knockout females mated with wild-type males. In contrast, deletion of Tet3 from the male germ cells does not seem to affect the change in 5hmC and 5mC
Reduced accumulation of catharanthine and vindoline, but accumulation of 16S- and 16R-deshydroxymethylstemmadenine (16S/16R-DHS) and, to some extent, of akuammicine
Cells show lethality and the dolichyldiphosphatase domain alone can rescue the lethal phenotype, but the growth rate of these cells is slower than in wild-type cells. Cells containing wild-type palmitoyl-protein thioesterase (PPT) and inactivated dolichyldiphosphatase reverse the growth retardation phenotype. Cells containing no functional copy of palmitoyl-protein thioesterase are viable, but abnormally sensitive to sodium orthovanadate and elevated external pH. These sensitivities are reversed when the cells are transformed with plasmid containing wild-type PPT and an inactivating mutation in the dolichyldiphosphatase domain
No visible effect on rifampicin resistance
Sperm with reduced motility (47%) and forward progression and increased flagellar structural bending defects. However, normal fertility is maintained
Strongly reduced number polylactosamine structures on N-glycans in immunological tissues. B-cells and T-cells proliferate show hyperproliferation (PubMed:17890318). Mice also display defective accessory olfactory bulb innervation (PubMed:23006775). Impaired sexual behaviour. While female mice are fertile, males show a reduced rate of reproduction. Defects cannot be attributed to any physical defect in their reproductive organs, suggesting that the phenotype observed may result from an impaired sexual response to female mating partners
Cells lacking this gene display growth defects, absence of Kdo transferase activity, and accumulate massive amounts of lipid IV(A)
Cells lacking this gene reveal a loss of rod shape, irregular septation, multicompartmentalized cells, and thickened cell walls. It also induces a decrease in isoprene production
Long circadian-period phenotype under free-running conditions
Early-flowering phenotype at elevated temperatures (e.g. 29 degrees Celsius) but not at room temperature (e.g. 22 degrees Celsius)
Inactivation of glgC reduces by half the extracellular (capsular) alpha-D-glucan and intracellular glycogen contents (PubMed:18808383, PubMed:27513637). Cells lacking this gene are not affected in their multiplication or persistence in the BALB/c mouse infection model (PubMed:18808383). Combined inactivation of both glgC and treS results in a complete absence of maltose-1-phosphate (M1P) and alpha-glucan, whereas combined inactivation of both glgC and otsA results only in a complete absence of alpha-glucan (PubMed:27513637)
Leads to the complete abolishment of all products
Strong red Pchlide fluorescence after 3.5-4 days of growth in the dark, and cell death after subsequent illumination. Conditional seedling lethal phenotype related to defects in import and assembly of NADPH:protochlorophyllide (Pchlide) oxidoreductase A; excess Pchlide accumulated in the dark operates as photosensitizer and provokes cell death during greening
Flies display impaired deposition of pigment granules (PubMed:10549280). Member of the 'granule group' of eye color genes as mutants affect deposition in pigment granules of two types of pigments, the ommochromes and drosopterins (PubMed:10549280). RNAi-mediated knockdown results in late endosome fragmentation (PubMed:27253064)
Resistance to sordarin and zymocin
Lethal when homozygous. In hemizygous plants, male gametophytic mutants characterized by very short pollen tubes. Male-specific transmission defect
Displays significantly decreased fungal growth on nutrient-rich media, while no significant difference in fungal growth was observed on nutrient-deficient medium (PubMed:36547594). Displays also distinct fungal colonies with different morphology with much less dense and thick aerial mycelia (PubMed:36547594). Leads to a 204.4% increase in conidial formation and a 7.6% increased germination rate (PubMed:36547594). Shows slightly decreased trap formationand exhibits significantly decreased nematicidal activity (PubMed:36547594). Leads to dramatic up-regulation of all of the genes in the SEC cluster responsible for the anthrobotrisin biosynthesis and down-regulation of the genes involved in period circadian and actin-related proteins (PubMed:36547594). Shows significantly increased resistances to several chemical stressors, including cell-wall-perturbing agents (SDS and Congo red), osmotic agents (NaCl and sorbitol), and the oxidant H(2)O(2) (PubMed:36547594). Does not lead to any change in metabolic profile of A.oligospora grown on PDB (PubMed:33823587)
It was not possible to obtain a strain in which the dacZ gene was deleted in standard growth conditions, indicating that dacZ is an essential gene
Deletion results in a large increase in the production of extracellular and intracellular hemolysin (PubMed:1956303). At low osmolarity minor changes in overall translation, at 0.4 M NaCl expression of about 25 proteins altered, including decreased OmpA, crr and AhpC (in strain 5K, not a K12 derivative) (PubMed:10322001). At 0.3 M NaCl in strain W3110 up-regulation of 113 genes and down-regulation of 8 genes was observed; a double cnu-hha deletion up-regulated 134 and down-regulated 5 genes, most of which are thought to have been acquired horizontally and are also up-regulated in double hns-stpA deletions (PubMed:23543115). However there are only 12 genes that were commonly up-regulated in the hha and cnu-hha deletions (PubMed:23543115). Represses the production of persister cells (PubMed:19909729). Deletion of hha and tomB (ybaJ), in the presence of a conjugative plasmid (R1drd19), decreases biofilm formation, cell aggregation and increases motility via flagella and motility gene expression (PubMed:16317765)
Mutant animals exhibit muscle hypertrophy
Cells lacking this gene show a non-mucoid phenotype
Morpholino knockdown of the protein results in heart folding defects, reduced hematopoiesis and small eyes
Cells lacking this gene show severely retarded growth in vitro, and display no PDH activity. They are also more sensitive to nitrosative stress caused by NaNO(2), and to macrophage-induced killing in vitro. They also show at least 20-fold reduction in survival in a mouse tuberculosis model, and are unable to cause disease in a guinea pig model of tuberculosis infection. Disruption of dlaT leads to high up-regulation of the expression of the bkdABC operon
Loss of neural tissue volume: neuronal cell death is associated with impaired autophagic degradation
Disruption mutant cannot grow at all in the absence of L-proline
Ivory phenotype seedling under heat stress (30 degrees Celsius). Decrease in transcript levels of class I genes, but enhanced expression of class III genes (e.g. accD, rpoB and clpP) after heat shock
Mice show normal periodicity of wheel-running rhythms with compromised organization of daily activities: mice do not display significant difference from their wild-type littermates in both the free-running period in constant darkness (DD) and activity onset in 12 hours of light/12 hours of darkness (LD). However, an alteration in the daily activities is observed: while wild-type mice show 2 peaks of activity during the active period, the late night activity is eliminated in Fbxl21-deficient mice. Mice lacking both Fbxl3 and Fbxl21 show an attenuated phenotype in behavioral rhythm compared to Fbxl3-deficient mice; however, they exhibit unstable behavioral rhythms, sometimes eliciting arrhythmicity
No visible phenotype under normal growth conditions, but mutant plants cannot survive when grown under heat conditions (42 degres Celsius during the day and 35 degres Celsius during the night) (PubMed:26280413). Reduced plant height and reduced panicle length (PubMed:29692796)
Discrete defect in the ellipsoid body
Plant have an enhanced hypocotyl elongation in far-red light, and accumulates protoporphyrin IX
Cells show an accumulation of 4-androstene-3,17-dione (AD) in the cholesterol degradation process
Double lpp-ompA mutants are spherical and only grow in the presence of electrolytes such as 30 mM Mg(2+), and are sensitive to hydrophobic antibiotics and detergents. The peptidoglycan layer is no longer attached to the cell outer membrane which undergoes abundant blebbing
Cells are shorter in a single mutant, while triple envC-nlpD-mepM disruptions have defects in septation and cell separation and form long filaments (15-fold longer) and further yet by the quadruple disruption mutant (envC-nlpD-mepM-ygeR, over 21-fold longer). Quadruple mutants are less sensitive to ampicillin lysis (PubMed:19525345). A triple mepS-mepH-mepM mutant is inviable, whereas a double mepS-mepM will grow on a nutrient-poor medium but not on a rich medium, suggesting the 3 endopeptidases are functionally redundant in vivo. Depletion experiments of the double or triple mutants lead to cell lysis, as well as significantly decreased incorporation of mDAP into peptidogylcan sacculi and increased amounts of the enzyme's substrate (Tetra-Tetra-anhydro muropeptide) (PubMed:23062283)
Mutants grown in rich medium show severe defects in chromosome segregation and cell division
Defective in root hair formation and accumulates cyanide in root tissues. No effects on growth
Decreased, but not completely blocked de novo methylation. Probably due to a partial redundancy with CLSY2
Mutants show normal development of germinal center B cells when infected by influenza virus
Fewer and shorter root hairs
Mice display lower levels of plasma triglycerides and free fatty acids and show smaller lipid droplets in hepatocytes (PubMed:17646209, PubMed:19187774). Mice are resistant to high-fat diet-induced obesity and are protected against hepatic steatosis (PubMed:17646209). Mice also show decreased very-low-density lipoprotein (VLDL)-triacylglycerol secretion and reduced VLDL size (PubMed:19187774)
Smaller and yellowish rosette leaves. Enhanced sensitivity to abscisic acid (ABA) in growth inhibition and seed germination. Accumulation of ABA in leaves. Enhanced tolerance to drought with lower stomatal conductance
Cells lacking this gene show undetectable in vivo beta-oxidation levels, and are unable to grow on oleate or decanoate as a sole carbon and energy source, in contrast to the wild-type parent strain
Completely abolishes the production of myceliothermophin E, but leads to the accumulation of its C18 keto acyclic precursor
Stay-green phenotype during leaf senescence. Delayed chlorophyll breakdown during developmental senescence
Mice are fertile and healthy. They display a normal thymus, spleen and lymph node development, and normal CD4(+) and CD8(+) T-cell development. They also show normal development of natural killer T-cells, B-cells, and conventional and plasmacytoid dendritic cells. They however show defects in T-helper 17 cells (Th17) differentiation and are resistant to experimental autoimmune encephalomyelitis. Loss of follicular T-helper cells (TfH), as well as less production of antibodies with switched isotypes in B-cells is also observed
Mice show a defect in frequency of respiratory rhythm with a fatal apnea at birth due to lack of neurons from the preBoetC region. They displayed renal dysgenesis with abnormal podocyte differentiation as well as tubular apoptosis. They show altered actin-dependent macrophage morphology. They show a reduced number of cells expressing insulin and glucagon. Embryos also lack the abducens nerve which normaly innervates the lateral rectus muscle that is involved in eye movement (PubMed:27181683)
Reduces transcription of TRI4 and TRI5 and does not produce trichothecenes but accumulates low levels of the trichothecene precursor trichodiene (PubMed:7646028)
Mice develop normally with no gross abnormalities. However, they display marked sensitivity to doxorubicin cardiotoxicity with increased number of cardiomyocytes apoptosis. Analysis of hearts from knockout mice reveal vacuolization and edema of cardiomaycytes
Increased sensitivity to methyl methanesulfonate, mitomycin C, phleomycin (PubMed:1327967, PubMed:12446634). Has a modest defect in RecA-mediated conjugational DNA recombination; double radA-radD mutants have wild-type levels (PubMed:25425430, PubMed:12446634). 10- to 1000-fold decrease in survival after ionising irradiation (IR) (PubMed:25049088, PubMed:25425430). Double radA-radD deletions have nearly 10(6)-fold lower survival against IR and the double mutant is more severely affected by UV radiation than either of the single mutants alone. The single mutation is more sensitive to dsDNA breaks induced by ciprofloxacin (CFX), the double radA-radD mutant is inviable upon CFX treatment; the SOS response is slightly induced in the single and more induced in the double mutant (PubMed:25425430). Another group showed very slight sensitivity to CFX, UV and azidothymidine (AZT) in single deletion mutants, a radA-recG deletion is extremely sensitive to CFX and AZT, less so to UV. The SOS response is induced in the radA-recG double mutant, indicating spontaneous DNA damage. AZT sensitivity is suppressed by further recA or recF deletions, suggesting AZT-induced DNA gaps are processed into lethal intermediates in a RecA-dependent fashion mediated by RecF. RuvAB suppresses UV, CFX and AZT sensitivity to vaarying degrees. Similarly, radA-uvrD double deletions are also more sensitive to UV, CFX and AZT. Adding a recF mutation almost completely suppresses AZT and partially suppresses UV and CFX sensitivity, suggesting RadA processes a class of intermediates that accumulates in uvrD mutants (PubMed:25484163)
No growth phenotype in phosphate-rich medium (3.6 mM Pi) (PubMed:15731097). In restricted medium (Sauton) grows better than wild-type even after nutrient starvation (PubMed:20933472). Decreased phosphate uptake in phosphate-depleted medium (PubMed:15731097). Decreased growth in infected BALB/c and C57BL/6 mice for up to 5 months after infection (PubMed:15731097)
Knockout in the rectal epithelial Y cell results in impaired formation of the PDA motor neuron (PubMed:31386623). Knockout in Pn lineages (the precursor cells of the ventral epidermis of newly hatched animals) results in the defective formation of ventral cord motor neurons (PubMed:31386623)
Albino and pale green (apg) phenotype and early seedling growth arrest
Loss of binding to telomers and subtelomeric repeat regions (TAREs) and promoters of var genes
Viable with no gross morpholgical defects (PubMed:25008349, PubMed:26247047). At 6-7 weeks of age teeth have an opaque, chalky appearance, with reduced enamel thickness at occlusal surfaces (PubMed:25008349, PubMed:26247047). Body weight is reduced, probably due to problems with chewing hard foods (PubMed:25008349). Enamel formation is abnormal from the maturation stage onwards with significantly reduced mineral density and retention of proteinaceous material in the enamel matrix (PubMed:25008349, PubMed:26247047). Tooth enamel hardness is ten times lower than wild type (PubMed:26247047). Attachment of ameloblasts to the enamel layer may be weakened (PubMed:26247047). The calcium transporter SLC24A4 fails to localize to the distal ameloblast membrane (PubMed:26247047). In maturation stage ameloblasts expression levels of amelogenin appear to be reduced, although abnormally high amelogenin levels are found in the extracellular enamel matrix (PubMed:25008349, PubMed:26247047)
Plants exhibit developed naked, pin-shaped inflorescences and abnormalities in the number, size, shape, and position of lateral organs
Shorter primary roots, fewer secondary roots and an altered root gravitropic response. Accumulation of storage protein globulin 12S in dry seeds
Mutant produces lower levels of exotoxin A (PubMed:8843437). Mutant also produces significantly more pyocyanine than its parent strain (PubMed:16803594)
Compressed root wave phenotype on tilted agar surfaces. Reduced accumulation of tryptophan, but increased levels of auxin
RNAi-mediated knockdown of the protein increases longevity and causes a delayed and extended reproductive life span without increasing total progeny. Animals show increased levels of tryptophan, reduced sensitivity to proteotoxic aggregates of alpha-synuclein and reduced age-related decline of motility. A double knockdown of tdo-2 together with an enzyme downstream in the kynurenine pathway, kmo-1, flu-2, afmd-1 or haao-1, causes an increase in motility and tryptophan levels and suppresses the proteotoxicity similarly to knock-down of tdo-2 alone. RNAi-mediated knockdown in a tph-1 deletion background, which is necessary for synthesis of serotonin from trypotophan, shows increased motility, but variable suppression of proteotoxicity. RNAi-mediated knockdown in a mutant background for daf-16, which functions in the IIS pathway, shows suppression of proteotoxicity and only a small increase in median, but not mean life span. RNAi-mediated knockdown in a mutant background for hsf-1, which also functions in the IIS pathway, shows suppression of proteotoxicity and a small increase in life span. RNAi-mediated knockdown in a mutant background for hif-1, which functions in the hypoxia stress response pathway, shows an increase in median, but not mean life span that is lower than for the tdo-2 knockdown alone. RNAi-mediated knockdown in a mutant background for eat-2, which is used as a model for dietary restriction, shows suppression of proteotoxicity and an increase in life span
Null cells show defects in spatial regulation of the cell attachment at the leading edge. They also have extended chemoattractant-mediated rap1 activation kinetics and decreased myosin II assembly
Progressive degeneration of the adult nervous system, associated with apoptotic cell death, glial hyperwrapping, and neuronal apoptosis. Also, vacuolization in the neuropil
RNAi-mediated knockdown resulted in de-repression of unc-129 expression in ventral body wall muscle (BWM)
Absence of sarm1 provides a level of protection against axon degeneration (PubMed:32001778). Schwann cells are protected from chemotoxicity by delaying axon degeneration (PubMed:32001778). Absence of Sarm1 does not promote axon resealing (PubMed:32728661)
Knockout mice show decreased inflammatory response when exposed to infection of injury, which can lead to lower inflammation-induced mortality. Display normal development of the immune system
Deletion leads to transcriptional alteration of multiple genes including a large number of genes involved in metal transport, such as the feoAB operon involved in ferrous iron uptake and the mgtE and mgtA operons involved in Mg(2+) transport
Decreased frequency of reversals, suppression of hyperreversal phenotype of cni-1 mutants, decreased tactile response and increased osmotic avoidance (PubMed:24094107). Overall, display increased omega turn frequency following reversals, however deletion in AIB interneurons specifically results in decreased omega turn frequency (PubMed:27223098). Decreased nose touch responses (PubMed:27223098)
Slower than wild-type growth. Transient accumulation of the 30S rRNA precursor occurs; 90% of 16S rRNA is correctly processed while an extended version of 23S rRNA accumulates in the ribosome. Half-life of a number of RNase III processed transcripts increases. In the absence of era and rnc there is a defect in chromosome partitioning. In strain HT115, loss of immunity against a plasmid with homology to CRISPR spacer sequences (PubMed:23535272)
Viable, but has defects in the male-specific genital sensilla (simple sense organs) known as rays (PubMed:19211678). Defects in the migration and axon extension of the hermaphrodite specific neurons (HSN) during embryogenesis (PubMed:19211678). Ubiquitin-modified histone H2A is not detected in mutants (PubMed:19211678). RNAi-mediated knockdown in a lin-15 mutant background causes a multiple vulva (Muv) phenotype (PubMed:19211678)
Completely abolishes the production of fumagillin but leads to the accumulation of the intermediate 6-demethoxyfumagillin (PubMed:24082142, PubMed:24568283)
Mutants succumb to Staphylococcus aureus infection within 5 days
The rfc1-1 EMS mutants show reduced plant growth and organ size, and early flowering (PubMed:20639449). The rfc1-2 T-DNA mutants have normal vegetative growth, but have greatly reduced fertility due to a meiotic defect and produce short seed pods with very few seeds (PubMed:23144629). The rfc1-3 T-DNA mutant is embryonic lethal when homozygous (PubMed:23144629)
Longer primary root and NaCl and ABA insensitivity
E9.5 embryos are still viable but die thereafter. Mutant embryos are runted, have exhibit enlarged pericardial sacs, and defects in neural tube development. There is a complete absence of cilia in E9.5 embryos. Sonic hedgehog (SHH) signaling is severely disrupted with down-regulation of PTCH1 and GLI1
Cells are unable to colonize the gastric mucosa of mice
RNAi-mediated knockdown in daf-2, isp-1, or clk-1 mutant backgrounds suppresses their increased lifespan phenotype
In combination with transgenic IL36A exacerbates skin abnormalities (acanthosis, hyperkeratosis, presence of a mixed inflammatory cell infiltrate and increased cytokine and chemokine expression)
Abbolishes the production of asterriquinone CT5
RNAi-mediated knockdown causes larval lethality at the L1 stage (PubMed:11441002). RNAi-mediated knockdown at the L1 larval stage causes reduced growth rate (PubMed:19741196). The progeny of the few that reach adulthood is arrested at the L1 larval stage (PubMed:19741196). Rhythmic defecation behavior is altered; the defecation cycle period is extended and animals have a slight arrhythmia (PubMed:19741196). In the intestinal epithelium, pH oscillates once per cycle as in the wild-type, but the oscillations are diminished in amplitude and cells are relatively acidic (PubMed:19741196). Also, luminal pH oscillations are reduced (PubMed:19741196). RNAi-mediated knockdown at the L2 larval stage causes a reduction of whole body fat mass in young adults (PubMed:19741196). In some animals, the lumen appears swollen, with a reduction of the cytoplasmic contents of intestinal cells (PubMed:19741196). Defect in nutrient absorption (PubMed:19741196)
Viable but females are sterile and produce eggs with a ventralized phenotype where the dorsal respiratory appendages are fused (PubMed:23121330, PubMed:22976300). Reduced levels of grk protein in the oocyte cytoplasm and very low levels in follicle cells and in the extracellular space separating the oocyte from the follicular epithelium but no effect on grk transcription (PubMed:23121330). Increased incidence of DNA double-strand breaks in mutant germaria (PubMed:22976300). Reduced body size and weight and reduced cell size and number with mutants showing signs of starvation under normal feeding conditions and disturbed fat metabolism marked by elevated levels of stored fat (PubMed:26274446). Reduced phosphorylation levels of Akt1, Thor/4E-BP and S6k (PubMed:26274446). Accumulation of insulin-like peptide Ilp5 in larval brains is reduced to levels comparable to starved control animals (PubMed:26274446)
Extreme constitutive ethylene response in air associated with a partial loss of ethylene-inducible gene expression and an increased ethylene production. Mitochondrial swelling, decreased meristematic cell production, increased cell division time and reduced cell expansion rates, leading to severe growth retardation. Reduced sensitivity to salt stress and defective in H(2)O(2)-induced nitric oxide (NO) accumulation, light-induced NO in cotyledons, abscisic acid (ABA)-induced NO accumulation and stomatal closure, and in auxin-induced lateral root formation
Mutants grow slowly at low temperatures and show partial mislocalization of nuclear antigens
Hyperreversal phenotype with considerably shorter average forward time than wild-type and a corresponding increase in frequency of reversals. Increased anterograde transport of glr-1 with corresponding increases in synaptic glr-1 expression and glr-1-mediated currents. Altered pattern of glr-1 glycosylation, indicative of increased export from the endoplasmic reticulum
Lethality around pupal formation with rare escapers with a delayed eclosion time (PubMed:24615015). Reduced size of neuroblasts and ganglion mother cells with no effect on cell size in wing imaginal disks (PubMed:24615015). Grossly reduced mushroom bodies with degeneration of Kenyon cells (PubMed:15375215)
Does not produce T-2 toxin, but accumulates 4,15-diacetoxyscirpenol, presumably by 3-deacetylation of 3,4,15-diacetoxyscirpenol (PubMed:11352533)
Post-transcriptional gene silencing deficiency and developmental defects, including reduced stature, leaf serration and early flowering (PubMed:26842463). Smd1a and smd2b double mutants are embryo lethal (PubMed:26842463)
No visible phenotype. Knockout mice display normal locomotor activity rhythms and normal behavioral responses to light. Animals show reduction liver PER1 peak levels, but no change in the expression of other core clock genes
Sensitive to high temperature (PubMed:27866167). Normal cellular melanin level (PubMed:25972480). Increases SSA2 mRNA level (PubMed:27866167). Mildly decreases virulence in a mouse intratracheal infection model (PubMed:25972480)
Sensitivity to 6-azauracil (6AU) and mycophenolic acid (MPA)
Severe growth defects due to a limitation in the electron flow from PSII
No visible phenotype, but increased tolerance to an excess of zinc
No visible phenotype, and the mice are fertile. Mice have reduced CTTN phosphorylation. Mice lacking both Fps/Fes and Fer activity are viable and fertile, but produce slightly fewer pups per litter than normal. They display elevated levels of circulating neutrophils, erythrocytes and platelets, while other cell counts are normal
Mice are viable and display normal fertility but show defective biogenesis of antisense piRNAs and activation of transposons. Reduced sequences generated by Piwil2 slicing, impaired biogenesis of Piwil4 piRNAs and derepressed LINE1 retrotransposons
Knockout animals display left-right asymmetry abnormalities, including situs inversus totalis. Nodal cilia rotational speed is reduced compared to heterozyous littermates. Mutant males also exhibit asthenospermia and are infertile
Mutant embryos are detected at the expected Mendelian rate, but there is about 50% perinatal lethality. This is mostly due to suckling defects, possibly because the neonates cannot find a nipple. Surviving mice are smaller, and they have shorter snouts and more widely spaced eyes than wild-type. A small percentage of the embryos and neonates display frontal hematomas. Besides, a small percentage of the embryos display exencephaly (PubMed:11087877). These mice display also deformity of the rib cage with sterno-distal rib fusions, shorter, crooked sternebrae, delayed vertebral calcification and closure of the thoracic spine (PubMed:21569876). Their small size is due to growth defects of limbs and vertebrae (PubMed:21569876). Mutant mice display decreased bone mass, as well as defects in proliferation and osteoblastic differentiation of bone marrow mesenchymal stem cells (PubMed:21569876). A spontaneous variant (the Malaga variant) that appeared among the descendants of the original knockout mice shows almost complete perinatal viability, but the mice still present small size, shorter snouts, wider-spaced eyes and reduced brain volume (PubMed:17656621). Compared to wild-type, the Malaga variants display smaller olfactory bulbs, and generally a smaller brain with slightly decreased thickness of the brain cortex and subtle defects in cortex development (PubMed:17656621). The hippocampus appears normal at birth, but displays a reduced number of cell divisions in adult dentate gyrus, both under normal conditions and when mice are exposed to a stimulating environment that promotes neurogenesis (PubMed:18708146). Compared to wild-type, the newly formed hippocampus cells show reduced survival (PubMed:18708146). Newly formed granule cells display defects in their maturation (PubMed:18708146). Mutant mice present subtle myelination defects in the brain cortex (PubMed:25226845). Mutant mice display minor defects in somesthesis, olfaction, grasping and keeping their equilibrium, and show decreased sensitivity to pain caused by heat (PubMed:19689455). Mutant mice do not display allodynia and hyperalgesia after nerve injury and are protected against demyelination after nerve injury (PubMed:15195086). Mutant mice display increased Schwann cell apoptosis in sciatic nerve, but this still leaves the majority of Schwann cells intact and does not cause any visible effect on movement (PubMed:11087877). Mutant mice display decreased exploration in the open field and increased anxiety-like responses to novelty; they also show subtle deficits in spatial learning and memory (PubMed:19689455). Mutant mice show blunted responses to bacterial lipopolysaccharide (LPS) and show reduced acute inflammation in response to LPS (PubMed:21821728). Mutant mice show decreased migration of fibroblasts to sites of lung injury, decreased injury-induced vascular leak, and are protected against the development of lung fibrosis after bleomycin treatment (PubMed:18066075). Mutant mice have reduced levels of proliferating epithelial cells in their intestinal crypts, and the cells do not migrate normally from the bottom of the crypts up into the villi (PubMed:23478264). Mutant mice show impaired repair after wounding of the intestinal mucosa (PubMed:23478264).Mutant mice have less body weight, but increased brown and white adipose tissue (PubMed:20358347). Contrary to wild-type, mutant mice do not increase their food consumption on a high fat diet and do not gain weight on a high fat diet (PubMed:20358347). Mice deficient in both Lpar1 and Lpar2 have the same phenotype as mice lacking Lpar1, excepting a higher incidence of frontal hematomas and slightly higher perinatal lethality (PubMed:12215548)
Leads to decreased resistance to hydrogen peroxide, 4-nitroquinoline-N-oxide (4-NQO), benomyl, and cadmium chloride (PubMed:17046176)
Disruption of the gene abolishes the production of phthiocerol dimycocerosate (DIM A) and of phthiodiolone dimycocerosate (DIM B). Mutant can still produce mycoside B
Sensitive to methyl methanesulfonate (MMS, causes DNA breaks), hydroxyurea (HU, ribonucleotide reductase inhibitor), thiabendazole (TBZ), sirolimus (TORC1 inhibitor), and cold
Viable. Reduction (50 percent) in the frequency of motoneuron axon regeneration in young adults but not in L4 larvae
Loss of DNA conjugation when disrupted in recipient strain; strain still secretes EsxB (PubMed:18554329)
Endosperm development arrest and impaired polar nuclei fusion
Cells lacking this gene produce less than 5% of methymycin, neomethymycin and pikromycin
Abolishes trehalose biosynthesis
Elevated perinatal mortality (PubMed:19234441). Mice have normal body weight at birth, but show growth retardation from day 2 onwards, resulting in a weight reduction of 30-40% after 6 weeks, both in males and females (PubMed:19234441). In addition, animals display reduced nose to anus length (PubMed:19234441). Fat mass is reduced by 60% in males and by 23% in females (PubMed:19234441). Lean body mass is reduced by 26% in males and 19% in females (PubMed:19234441). White adipose tissue decreases more and more over time, while brown adipose tissue is not affected (PubMed:19234441). Serum leptin levels are decreased, while serum levels of adiponectin are increased (PubMed:19234441). Mice exhibit significant hyperphagia after correction for body weight (PubMed:19234441). They show increased oxygen consumption, carbon dioxide production and heat generation, indicating increased energy expenditure, in spite of reduced spontaneous locomotor activity (PubMed:19234441). Plasma adrenaline concentrations are significantly increased (PubMed:19234441). Overall glucose metabolism appears normal (PubMed:19234441). Conditional deletion in the adult affects body composition and metabolism, and causes a small reduction in food intake and weight gain (PubMed:23300482). Mice with conditional deletion in dopaminergic neurons show abnormal dopamine signaling pathways, including impaired dopamine receptor type 2 (D2R) and type 3 (D3R) signaling and the related locomotion function (PubMed:23817550). Deficient mice show increased N(6)-methyladenosine (m6A) in a subset of mRNAs important for neuronal signaling, including many in the dopaminergic signaling pathway (PubMed:23817550). Knockout cells show strongly increased levels of N(6),2'-O-dimethyladenosine cap (m6A(m)) mRNAs (PubMed:28002401)
Embryo defective. Developmental arrest of the embryo at the preglobular stage
Abolishes the production of 15-deoxyoxalicine B and accumulates decaturin A
Impaired parasite growth under conditions of restricted arginine availability (PubMed:28205520). Does not cause toxoplasmosis in mice (PubMed:28205520)
Extends the life span
Conditional knockout at the ring stage has no effect on parasite development during the first cycle and merozoites egress normally from host erythrocytes. However, these merozoites are unable to reinvade new erythrocytes (PubMed:31492901, PubMed:32179747). Impaired rhoptry secretion during merozoite invasion of host erythrocytes (PubMed:31492901, PubMed:32179747). Increases the spatial segregation between rhoptry neck protein RON4 and bulb protein RAP1, and impairs RAP1 processing (PubMed:32179747). No effect on rhoptry morphology (PubMed:31492901, PubMed:32179747). Microneme secretion is not affected (PubMed:31492901)
Expresses approximately normal numbers of F pili that are unusually long, remains plasmid transfer proficient, displays increased resistance to F-pilus-specific phage (PubMed:1355084). Resistant to phage R17 and M13, conjugates at lower efficiency (about 10% of wild-type), resistant to CdiA-CT toxin (PubMed:24889811)
Males show spermatogenesis defects due to demethylation and subsequent derepression of transposable elements. Meiotic-progression is impaired during early prophase of meiosis I, followed by a marked and progressive loss of germ cells with age
Mice are smaller and half of them develop fatal hydrocephalus between 3 to 15 weeks of age. They display subtle alterations in glucose homeostasis with an enhanced response to insulin which causes hypoglycemia. Pancreatic islets become progressively larger
Cells lacking this gene form less than the normal amount of malonic semialdehyde because a portion of the 3-carbon intermediate is diverted out of the Rut pathway (PubMed:20400551). It was shown later that defects could be due to polarity of the lesion on one or more of the downstream genes (PubMed:33839153)
Knockouts generated by CRISPR-Cas9-mediated gene editing strongly inhibited the peripheral induction of the mitochondrial unfolded protein response
Mutant shows a significant reduction in the level of Ndk
Cells lacking this gene have increased lysozyme resistance, which is important for escape from the host innate immune response. The lysozyme resistance is OatA-independent, but is dependent on PgdA, and an increased N-deacetylation of the peptidoglycan is observed in these cells. The phenotype is suppressed by the concomitant deletion of gpsB and pbpA1
Viable, but paralyzed. Double knockout with madd-3 results in lethality. Triple knockout with madd-3, and either cebp-1, dlk-1, mak-2, pmk-3 or sek-3 results in paralysis (as in the unc-54 single knockout), and suppresses the lethality phenotype in the double madd-3 and unc-54 mutant
Cells lacking taf6 are not viable
Leads to predominant production of large tuberculate spores with spores severe viability defects (PubMed:18791067)
Resistant to oxidative and heat stress. At increased temperatures, there is increased longevity and an increased propensity of larvae to form dauer. At decreased temperatures, lifespan is shorter. Defective chemotaxis in response to toxins
Increased resistance against glycopeptide antibiotics, especially teicoplanin
Deletion decreases survival upon exposure to K1 killer toxin
Decreased survival under anaerobic conditions
Disruption of the gene leads to significant growth retardation on both vanillate and syringate
Impairs the production of fumonisins but does not affect maize ear rot and ear infection (PubMed:10413619, PubMed:12423021, PubMed:15137825)
Survival of touch neurons and several pharyngeal cells is not affected during development and no extra pharyngeal cells caused by impaired apoptosis are produced (PubMed:23505386). Basal and ionizing radiation-induced germline apoptosis are normal (PubMed:23505386). In a ced-3 n2427 mutant background, more animals have the M4 sister cell that survives (PubMed:23505386). In a csp-3 n4872, csp-2 n4871 and ced-3 n3692 mutant background where the canonical apoptotic pathway is impaired, 16 percent of animals have still 1 or more cell corpses that are morphologically apoptotic and are internalized by engulfing cells (PubMed:23505386). In addition, apoptosis of the male linker cell occurs normally (PubMed:23505386). RNAi-mediated knockdown causes a 50 percent inhibition of Mn(2+)-induced dopaminergic CEP neuron degeneration (PubMed:23721876)
Morpholino-injected embryos have a thin yolk sac, bent tail, and show a marked decrease of erythrocyte production
Abnormal spore maturation in presence of cw27-encoded poison (PubMed:28631610). Sensitises cells to cw27-encoded poison; simultaneous disruption of cw9 enhances sensitivity (PubMed:28631610)
Deletion mutant is attenuated in vivo during murine tuberculosis, specifically during the chronic steps of infection. On day 28 post infection, shows a slight reduction of the bacterial burden. On day 70, shows a strong reduction of the bacterial burden. Mice infected with the mutant show smaller, non-confluent tubercules. Mutant shows impaired ability to survive and multiply within murine macrophages. It is unable to inhibit phago-lysosome fusion in THP-1 cells
No visible effect on transformation or growth in the presence or absence of mitomycin C (in strain KA797), on plasmid conjugation (in strain PC4020), on nucleotide excision repair, survival of UV damage or DNA recombination (PubMed:16978360)
Mice lacking Tp73 display a runting phenotype and high rates of mortality due to massive gastrointestinal hemorrhages or intracranial bleeding. The gastrointestinal tract suffers loss of enterocytes and excessive mucosecretions in the duodenum, ileum and cecum. Survivors exhibit hippocampal dysgenesis, hydrocephalus, chronic infections and inflammation, as well as abnormalities in pheromone sensory pathways
Cells exhibit poorly methylated receptors, are tumbly and have a decreased sensitivity to attractants
Embryo defective (PubMed:15266054). Reduced stature, early flowering and altered leaf morphology (PubMed:17008405)
Disruption confers resistance to cellular contact-dependent growth inhibition (CDI) CdiA of E.coli strain MHI813, but not to several other tested CdiA toxins
Leads to hypersensitivity to valproic acid
Leads to the accumulation of deacetylated calonectrins (PubMed:8593041)
No visible vegetative growth phenotype. Very large reduction in alpha, omega-bifunctional C22 to C24 saturated suberin components in seeds. No effect on seed coat permeability
Shrunken non viable seeds due to arrested embryo development when homozygous (PubMed:16183838). Alteration in cuticular waxes with elevated amounts of cutin monomers in leaves (PubMed:16183838, PubMed:19625635). Susceptibility to the obligate biotrophic fungus E.cichoracearum and increased resistance to the necrotrophic fungi B.cinerea and A.brassicicola (PubMed:19625635)
No difference in growth at 37 or 15 degrees Celsius (PubMed:16352840), decreased growth at 16 degrees Celsius (PubMed:23175651). The presence of CshA or CshB is essential for viability; in a cshA disruption mutant further depletion of cshB stops growth after 1 cell duplication (PubMed:16352840). Others show a quadruple disruption of all RNA helicases (cshA, cshB, deaD, yfmL) was not lethal at 37 degrees Celsius, although both 50S and 70S ribosomes are decreased, but growth stops at 16 degrees (PubMed:23175651). A double cshB-cspB disruption mutant cannot be made. A double cshB-cspD mutant grows slowly at 15 degrees Celsius (PubMed:16352840). Decreased amounts of 70S ribosomes (PubMed:23175651)
Sensitive to dithiothreitol-induced ER stress (PubMed:27611567). Abnormal sexual reproduction; decreases pheromone MFalpha1 expression and abolishes hyphal elongation (PubMed:27611567)
Cells lacking this gene are defective for growth on erythritol or on L-threitol
Leads to sensitivity to camptothecin and DNA-damaging agents
Cells lacking this gene are not auxotrophic for riboflavin and grow at wild-type rates in both rich and minimal media. But simultaneous disruption of ribH1 and ribH2 is lethal
Dwarfing, early senescence, and sterility. 65% lower levels in triterpenoids content and 50% lower levels in sterol content. Hmg1 and hmg2 double mutants are lethal during male gametophyte development
Deficient mice are viable, do not exhibit cardiac defects or embryonic lethality, and are generally normal and fertile (PubMed:22664872, PubMed:22406534). Deficient mice have decreased levels of sphingosine 1-phosphate (S1P) and dihydro-S1P in blood, accompanied by increases in very long chain ceramide species, and have defective lymphocyte trafficking (PubMed:22664872, PubMed:22406534, PubMed:23180825). S1P levels are increased in lymph from deficient mice as well as in specific tissues, including lymph nodes, and interstitial fluid (PubMed:23180825). Moreover, these mice have aberrant lymphatic sinus that appeared collapsed, with reduced numbers of lymphocytes (PubMed:23180825). Mice display marked accumulation of mature T-cells in thymus and decreased numbers of peripheral T-cells in blood and secondary lymphoid organs (PubMed:22406534, PubMed:34260944). Mature recirculating B-cells are reduced in frequency in the bone marrow as well as in blood and secondary lymphoid organs (PubMed:22406534). Mice do not show defects in S1P release from blood cells (PubMed:22406534). Knockout mice are protected against experimental autoimmune encephalomyelitis (PubMed:34260944). Mutants also show a profound hearing impairment, characterized by a progressive degeneration of sensory hair cells in the organ of Corti (PubMed:25356849, PubMed:30973865). Hearing loss is caused by a decline in the endocochlear potential (PubMed:25356849). Conditional deletion in the cochlea causes early onset progressive hearing loss (PubMed:25356849). In contrast, hearing impairment is not observed in mice with targeted deletion in red blood cells, platelets, lymphatic or vascular endothelial cells (PubMed:25356849)
Knockout mice are infertile. Infertility could not be rescued by SOHLH1 or SOHLH2 transgene expression due to a lack of expression of either genes in rescued animals
Mice are viable and fertile, and show normal placenta and embryonic weights
Mutant mice show impaired learning ability and memory functions associated with decreased accumulation of polyamines in the brain
Strains lacking psmA1 gene alone display relatively normal growth rate and overall cell yield, but they are more sensitive to growth on organic versus inorganic nitrogen sources and hypo-osmotic stress, and they show limited growth in the presence of L-canavanine. Abolition of alpha1 subunit synthesis also has a severe impact on the ability of cells to withstand thermal stress. Moreover, depletion of psmA1 and psmA2 together renders the cells inviable
No visible phenotype under normal growth conditions, but mutant plants do not accumulate 7-O-rhamnosylated flavonols (PubMed:17314094, PubMed:24251900, PubMed:26742840). Increased concentrations of auxin precursors and auxin metabolites (PubMed:26742840)
Dwarf plants and pale green leaf phenotype
No macroscopic phenotype, probably due to functional redundancy (PubMed:12417707, PubMed:14688293). Slight differences in polypeptide accumulation in seeds with an increased amount of propolypeptide forms of legumin-type globulins (PubMed:12417707). In plants lacking all vacuolar-processing enzyme isozymes (e.g. alpha, beta, gamma and delta) shift of storage protein accumulation from normally processed polypeptides to a finite number of prominent alternatively processed polypeptides cleaved at sites other than the conserved Asn residues targeted by VPE (PubMed:14688293)
No visible phenotype under normal growth conditions, but the mutant plants lack editing of the ndhD-1 site
Cells lacking this gene do not accumulate increased amounts of glycogen in the presence of trehalose and show only a small effect in alpha-glucan (PubMed:20118231, PubMed:27513637). Combined inactivation of treS with glgB or glgC completely blocks alpha-glucan production (PubMed:27513637)
Dwarf plants with reduced roots and leaves growth (PubMed:19706780). Reduced sensitivity of seedlings to glucose repression of development (PubMed:19706780)
Leads to hypersensitivity to DNA interstrand cross-linking (ICL) agents mitomycin C (MMC) and cisplatin, in response to both chronic and acute exposures
RNAi-mediated knockdown targeted to the intestine, but not to neurons, hypodermis, muscle or germline, reduced the resistance to infection by the Gram-positive bacterium P.aeruginosa strain PA14 (PubMed:34804026). Reduces expression of pmk-1 pathway dependent genes, such as systemic stress signaling mediator sysm-1 and infection response gene irg-4 (PubMed:34804026)
Defects are a cause of reduced expression of Hh target genes in the ventral neural tube, similar to the phenotype seen in zebrafish mutants known to affect Hh signaling (PubMed:15115751, PubMed:15198976). Reduced cilium number in pronephric duct and Kupffer's vesicle (PubMed:19852954). Defects in left/right asymmetry, characterized by abnormal heart location on right or center of body (PubMed:19852954)
Does not survive in murine macrophages, although it can invade epithelial cells. The SpiC protein is not exported into host macrophage cells
Worms exhibit defects in distal cell tip migration during gonadogenesis, reduced microtubule growth rate in embryos, and larvae arrest and lethality
No visible phenotype. Mice were born at the expected Mendelian ratio and are normal. They however show very high levels of 3-hydroxyanthranilate compared to wild-type mice
In mutant, only a small amount of YscC/SctC is properly targeted to the outer membrane (PubMed:9427408, PubMed:15292137). Mutant is Ca(2+) independent for growth at 37 degrees Celsius and secretes smaller amounts of Yop proteins (PubMed:7635810)
Knockout mice are born at Mendelian ratio and are fertile. Although brain histology does not identify major differences in cerebellar or cerebral cortex architecture, a mild, but significant 10% decrease in the brain weight was identified associated with a reduced cortical thickness in homozygous mutant mice at postnatal day 21 (PubMed:33257696). At 14.5 dpc, neural progenitors show a decrease of about one third in intracellular free Ca(2+) levels compared to wild-type progenitors (PubMed:33257696)
Stabilizes opaque cells at higher temperatures
Increases penicillin production, probably by relieving the competition for the precursor phenylacetate by the catabolic homogentisate pathway and the penicillin biosynthetic pathway
Embryo lethality. Embryo development limited to the formation of a few giant cells lacking microtubules but not actin filaments, each with one to several nuclei. Failure to localize KNOLLE in mitotic cells. Presence of abnormal endosperm with giant polyploid nuclei
Required for growth on defined medium, and on defined medium supplemented with nictotinic acid
Does not alter the yield of aspercryptin significantly (PubMed:26563584)
Leads to decreased virulence and forms abnormal hyphae in mice. Shows defects in forming hyphae and invading low concentrations of agar but can invade well in higher agar concentrations
Mice display hypothyroidism and lethal heart abnormalities that may be due to altered autolysosomes processing
Reduced aerial organs mainly due to changes in cell number and the duration of organ growth. When associated with ORS1 disruption, reduction in organ size
Cells lacking this gene display a high decrease in the level of ct(6)A modification in tRNAs, and show the t(6)A modification instead. They also exhibit a fitness defect, are unable to swim, and are more resistant to the norfloxacin antibiotic than the wild-type
Results in attenuated keratomycosis
Smaller root meristem size and fewer root meristematic cortex cells, associated with shorter roots and a slighty reduced sensitivity to RGF1 (PubMed:27229311). Quintuple mutants rgi1 rgi2 rgi3 rgi4 rgi5 display a consistent short primary root phenotype with a small size of meristem associated with a total insensitivity to RGF1 and undetectable levels of PLT1 and PLT2 (PubMed:27229312)
Mice are normal at birth as well as during growth. Mammary glands exhibit an increase in ductal and alveolar structures as well as more cyclin-D1 positive cells in mid-pregnancy. In the basal layer of epidermis, the number of cyclin-D1 positive cells is also higher. No lymphoid malignancy is observed. Kidney cells lacking Nit1 exhibit round and compact shapes, loss of lobular structure, higher cell density with increased S and G2/M cell populations. Cyclin D1 expression is increased, whereas differences in the other cell cycle-associated proteins appeared minimal. T-cells lacking NIT-1 display enhanced proliferation, elevated activation marker expression, accelerated cell cycle progression and aberrant expression of some cell cycle proteins
Does not develop perithecia and sexual ascospores, and lacks conidiophores and phialides (PubMed:20879840). Greatly reduces pathogenicity on wheat heads and production of secondary metabolites such as deoxynivalenol (DON) and 15-acetyldeoxynivalenol (15ADON) (PubMed:20879840). Leads to up-regulation of cell-cycle genes which promoters are highly enriched in StuA-response elements (StRE) (PubMed:20879840)
No magnetic response, fewer, smaller magnetosomes which do not contain magnetite. MamC localizes at mid cell in a short chain (PubMed:24816605). Magnetosome vesicles are approximately wild-type in size, shape and chain-like alignment, but there are many fewer vesicles, only a few have crystals (PubMed:27286560). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Leads to pfkB-specific transcript up-regulation
Fails to produce pneumocandins or any new compound that might correspond to a deacylated peptide core or free dimethylmyristic acid (PubMed:27494047)
Low level of embryonic lethality (< 15 percent) which is suppressed by simultaneous RNAi-mediated knockdown of max-2 (PubMed:19797046). In pak-1 and pak-2 double mutants, defects in embryogenesis and L1 stage lethality. The few animals reaching adulthood are smaller but have normal ventral cord commissural motoneuron axonal guidance and are relatively coordinated (PubMed:17050621, PubMed:19797046)
Embryo defective arrested at the cotyledon stage (PubMed:15266054). Deficient in N-glycosylation, altered in cytokinesis and cell wall architecture during embryogenesis. Mutants vtc1 and hsn1 with reduced enzyme activity show reduced root length and leaf cell size, reduced accumulation of ascorbate, increased sensitivity to ozone, UV-B and oxidative stresses, increased levels of abscisic acid (ABA), salicylic acid (SA) and resistance to virulent pathogens and root growth inhibition in the presence of NH(4)(+)
Constitutive reduction of stomatal opening and decreased wilting under water stress conditions resulting in abnormally turgid and green leaves as well as an enhanced tolerance to drought, and associated with an altered expression of some genes (e.g. ERD10, ERD13, NHL3, SYP122, VPEgamma, ERF and ZAT genes) mainly involved in response to stress. Normal stomatal closure in the dark and upon abscisic acid (ABA) exposure
Mutant does not secrete Yop proteins
Cells lacking this gene show an attenuated growth due to a defect in de novo fatty acid biosynthesis. Siderophore secretion and quorum-sensing signaling, particularly in the rhl and Pseudomonas quinolone signal (PQS) systems, is significantly muted in the absence of fabY (PubMed:22753059). In vitro, the deletion of fabY results in an increased susceptibility to a number of antibiotics, including vancomycin and cephalosporins. The antibiotic susceptibility is influenced by changes in membrane lipid composition which lack a single secondary lauroyl group, resulting in hypoacylated lipid A (PubMed:24145528)
Not essential, no change in sensitivity to reductant (beta-mercaptoethanol)
No visible phenotype under normal growth conditions (PubMed:28388946). The double mutants aip1 and aip3 exhibit a lethal phenotype; they fail to develop adult organs, are chlorotic and die (PubMed:28388946)
Reduced fertility
Reduced ginsenoside production. Strong up-regulation of squalene epoxidase 2 (SQE2) and cycloartenol synthase (OSCPNX1) expression resulting in an enhanced accumulation of phytosterol (campesterol, stigmasterol and sitosterol)
Mutant is sensitive to 2-nitroimidazole
Mice are viable and fertile, and are protected against toxic shock caused by bacterial lipopolysaccharide (LPS). IFNAR1 'Lys-63'-linked ubiquitination and IFNAR1 internalization are increased
No effect on KinC activity, a double floT-floA deletion decreases the number of proteins in the DRM, blocks the ability of KinC to stimulate biofilm formation (PubMed:20713508). Single floA deletion has no change in FloT localization. Double floA-floT mutants have marked defects in cell morphology, motility, and transformation efficiency (PubMed:22753055). Single floA deletion sporulates less well. Double floA-floT deletion makes no biofilm, has greatly reduced FtsH, sporulates less than either single mutant (PubMed:22882210). Single mutation has a decrease in membrane fluidity, 25% decrease in protein secretion, double floT-floA deletion a stronger decrease in membrane fluidity and 35% decrease in protein secretion (PubMed:23651456). Double floA-floT deletion has reduced oligomerization of KinC (PubMed:26297017). Double floA-floT deletion cells are somewhat elongated, the site of cell wall synthesis is affected, increasing at division septa. The speed of MreB movement around the cell is significantly decreased in rich medium (PubMed:32662773)
Mutant is metabolically inactive when succinate is used as sole carbon source. Does not affect growth on glucose, fructose, maltose and glycerol (PubMed:23278959). Deletion mutant shows altered cellular bicarbonate incorporation in the presence of NaCl and impaired growth at alkaline pH (PubMed:21070944)
Suppression of necrotic cell death (PubMed:16005300). RNAi-mediated knockdown results in increased germ cell corpse number due to delayed clearance of dying or dead cells, impaired phagosome maturation at a late stage and impaired acidification of phagosomes containing cell corpses (PubMed:35929733)
Viable (PubMed:29892014). Loss of daughter centrioles and asymmetrical mother centriole-derived basal body results in defective nine-fold symmetry of cilia in neurosensory organs and therefore motor coordination defects (PubMed:29892014, PubMed:33704067). Plp-associated structures are also disorganized but ciliary structures are still present in the scolopale rods (PubMed:29892014). Males are fertile, whereas female are sterile (PubMed:29892014). Results in failure to duplicate centrosomes in embryos and diploid larval tissues (PubMed:29892014)
Cells lacking this gene produce lipid A that lacks any detectable GalA. Inactivation of this gene also results in a product that is affected in the addition of GalA to all positions in the LPS core oligosaccharide, possibly by acting as a less than an optimal substrate for RgtA, RgtB and RgtC. The mutant strains are more susceptible to deoxycholic acid and to the polycationic antimicrobial peptide PmxB when compared with the parent strain
Absence of cortical granules exocytosis during post-fertilization. Multiple capacitated sperm binding to eggs and two-cell embryos are not prevented. Post-fertilization cleavage of ZP2 does not occur
No visible phenotype under normal growth conditions, but mutant plants show increased tolerance to arsenite and cadmium
Increased mortality rate and increased body levels of Mn(2+) when Mn(2+) levels are high in the environment (PubMed:19924247, PubMed:19785996). Reduced survival rate in response to infection mediated by pathogenic bacterium S.aureus (PubMed:19785996). Iron levels are low, independently of Mn(2+) levels (PubMed:19924247). RNAi-mediated knockdown partially prevents CEP neuron death mediated by the neurotoxin 6-hydroxy dopamine (6-OHDA) but not when mediated by high levels of Mn(2+) (PubMed:19801673)
Embryos exhibit smaller eyes, a reduced brain and visceral skeleton, shortened fins and a lack of expansion of liver and gut, and die on day 6 of development
Deletion increases biofilm formation after 8 hours and decreases biofilm formation after 24 hours
Increase in the number of differentiating germ cells
Knockout mice die immediately after birth. 20.5 dpc embryos display an impaired development of brown adipose tissue
AHR knockdown in the retina results in reduced electroretinogram responses, thinning of the outer segment, and degeneration of photoreceptors
Nod(-) phenotype characterized by absence of response to Nod factors (e.g. no rapid calcium flux, no calcium spiking, absence of early nodulin gene expression, and no root hair deformation) (PubMed:12753588). In the nfp-1 mutant, there is impaired nodulation response to S.meliloti, with no root hair curling or infection thread formation and no Nod factor-induced root hair deformation (PubMed:16844829). There are smaller nodules with an aberrant infection zone that contains more cell layers with smaller cells in the central tissue. Infection threads enter the cells, but the release of the bacteria is hampered, and the few released bacteria fail to develop into mature symbiosomes (PubMed:25351493). Increased susceptibility to the root oomycete A.euteiches and to the fungus C.trifolii (PubMed:23432463)
Viable with no gross coordination or gravitaxis defects. Males are sterile with complete absence of mature spermatozoa, while female fertility is unaffected. In developing spermatids, axonemes fail to elongate normally and sperm individualization is disrupted. Tubulin glycylation of spermatid axonemes is abnormal. Hearing is moderately impaired
Lethality; mice die just before birth
Absence of silencing in adjacent cells or tissues. Decrease in transgene silencing when combined with eri-1
Cells lacking this gene grow normally in both LB and SG media, and no difference in sporulation frequency can be observed
Increases the production of DHMBA completely loses the yellow color and instead produces red pigments (PubMed:23001671). Impairs sexual development and produces very few colorless but fertile sexual fruit bodies (cleistothecia) after 7 days of sexual growth (PubMed:23001671)
Mutants accumulate ring-1,2-dihydroxy-1,2-dihydrophenylacetyl lactone and are unable to use phenylacetate as a carbon source
Deletion causes hypervirulence during the chronic phase of infection in BALB/c mice. Mutant displays increased resistance to acidified nitrite stress. Does not affect sensitivity to ethambutol
Mutant fish survive to adulthood without overt developmental abnormalities. Upon treatment with L-thyroxine, the mutant fish eyes fail to produce any vitamin A2 and their photoreceptors fail to undergo a red-shift in sensitivity
Decreases the resistance to vancomycin about 2-fold
Loss of both zygotic and maternal expression causes defects in embryonic elongation and P-cell migration, loss of only maternal expression results in abnormal early cleavages, loss of only zygotic expression results in sterility
Mice display no particular phenotype (PubMed:10624962). Single knockout mice survive significantly longer than wild-type mice upon exposure to C.botulinum neurotoxin type A (BoNT/A, botA) (PubMed:16543415). Mice lacking both Sv2a and Sv2b experience severe epileptic seizures and die immediately or shortly after birth similarly to mice lacking only Sv2a (PubMed:10624962). Single knockout mice bind reduced amounts of BoNT/A than wild-type mice (PubMed:16543415). Single knockout mice are significantly more resistant to C.botulinum neurotoxin type E (BoNT/E) than wild-type mice (PubMed:18815274). In single knockout mice, synaptobrevin (VAMP, the target of C.botulinum neurotoxin type D, BoNT/D) is degraded by BoNT/D, and hippocampal neurons bind BoNT/D (PubMed:21483489). Hippocampal neurons from young mice lacking both Sv2a and Sv2b do not bind BoNT/A, nor do they take it up (PubMed:16543415, PubMed:18815274). Hippocampal neurons from young mice lacking both Sv2a and Sv2b do not bind C.botulinum neurotoxin type E (BoNT/E), nor do they take it up (PubMed:18815274). Hippocampal neurons from young mice lacking both Sv2a and Sv2b do not bind C.botulinum neurotoxin type D (BoNT/D, botD), nor do they take it up (PubMed:21483489). Hippocampal neurons from young mice lacking both Sv2a and Sv2b take up C.botulinum neurotoxin type C (BoNT/C) and C.botulinum neurotoxin type F (BonT/F, botF) normally (PubMed:21483489)
Eesults in loss of 7-hydroxydehydroaustin and accumulates a new product, 1,2-dihydro-dehydroaustin
Embryos display several alterations during development including perturbed intravesicular fluid flow in Kuppfer's vesicle, convergent extension defects and randomization of laterality of organs
Plants missing both WAPL1 and WAPL2 have relatively normal growth (slightly slower) and development but exhibit a significant reduction in male and female fertility (aborted pollen and ovules prior to fertilization and embryo defects in fertilized seed), due to blocked removal of cohesin from chromosomes during meiotic prophase (late zygotene/pachytene stage) resulting in chromosome bridges, broken chromosomes and uneven chromosome segregation, and leading to shorter siliques containing fewer seeds; this double mutant restores pollen viablitity to pollen-lethal ctf7 mutation (PubMed:25033056, PubMed:26813623). During mitosis, abnormal chromosome segregation but normal cohesin release (PubMed:25033056)
No visible phenotype when grown under standard conditions, but developmental retardation and lethality when grown in presence of methylglyoxal or D-lactate
No visible phenotype (PubMed:23613767). Tmk2 and tmk4 double mutants, tmk3 and tmk4 double mutants and tmk2, tmk3 and tmk4 triple mutants have no visible phenotypes (PubMed:23613767). Tmk1 and tmk4 double mutants, tmk1, tmk2 and tmk4 triple mutants and tmk1, tmk3 and tmk4 triple mutants have a severe reduction in organ size, a substantial delay in growth and development, and a decrease in fertility (PubMed:23613767). Tmk1, tmk2, tmk3 and tmk4 quadruple mutants are embryo lethal (PubMed:23613767, PubMed:24578577)
Pleiotropic phenotypes, including reduction of leaf size, dwarfing, small flowers and an irregular wax layer. The abnormal wax layer is associated with higher water loss and rapid chlorophyll leaching due to an increased cuticle permeability. Increased phytoceramides levels and decreased long chain bases. Increased sensitivity to salt stress. Increased susceptibility to the pathogenic bacteria P.syringae with reduced pathogenesis-related (PR) genes induction. Reduced sensitivity to abscisic acid (ABA) leading to impaired stomatal closure regulation. Increased sensitivity to the fungal toxin fumonisin B1 (FB1)-induced cell death
No visible phenotype under normal growth conditions, but the double mutants lpcat1 and lpcat2-2 show increased contents of very-long-chain fatty acids and decreased polyunsaturated fatty acids in seed triacylglycerols
In a mouse infection model, tachyzoite growth, conversion to bradyzoites and cyst formation are normal 4 weeks post-infection (PubMed:23291621). However, cysts are smaller and their capacity to cause oral infection in a mouse host is reduced which is probably due to their increased susceptibility to the conditions in the host digestive system (PubMed:23291621)
Mutant is unable to grow on inosine as a sole purine source
Mutants are defective in the secretion of EsxN, PPE41 and PE_PGRS proteins (PubMed:22340629, PubMed:22925462). Mutant is highly sensitive to detergents and hydrophilic antibiotics such as ampicillin, vancomycin and bacitracin (PubMed:22340629). Virulence is attenuated both in macrophages and in the severe combined immune-deficient mouse infection model (PubMed:22340629)
Worms either arrest during embryonic development, or show vulval eversion at the L4 stage and burst at the vulva during the L4-to-adult molt. Those who survive to the adult stage display severe defects in terminal differentiation of seam cells, vulva and male tail
Single deletion, grows on D-serine or D-serine plus glycerol but not D-alanine. A double dsdX-cycA deletion grows in D-serine plus glycerol, but not D-serine or D-alanine alone, growth on D-serine (but not D-alanine) is restored by dsdX (PubMed:16952954). Mutant exhibits increased resistance to D-cycloserine when grown in a minimal medium, but no change in D-cycloserine sensitivity compared to its parental strain when grown in a complex medium or human urine (PubMed:23316042)
Partial embryonic lethality and patterning defects. Surviving mice show hopping gait, polydactyly, hydrocephalus, and male sterility. Impaired hedgehog signaling. Primary cilia are not reduced in number and their length is normal (PubMed:25340710). Mice exhibit defective cilia structure, including abnormal positioning and number of ciliary microtubule doublets, abnormal localization of IFT complex B components and significantly reduced ciliary tip accumulation of proteins GLI2 and GLI3 (PubMed:28264835)
Increased small pavement cell (non-stomatal) and stomatal cell density. Inversion in CO(2) control of stomatal development resulting in an increased number of stomata at elevated CO(2) concentration
RNAi-mediated knockdown results in pupal lethality. The abdominal epidermis is soft and transparent whereas the head and thorax appear normal
No difference in the levels of punicalagin in pomegranate hairy roots in a single RNAi knockdown of this gene. However, double RNAi knockdown of this gene together with UGT84A24 leads to significantly reduced levels of punicalagin and bis-hexahydroxydipheynyl glucose isomers, and to increased levels of galloyl glucosides (ether-linked gallic acid and glucose)
Late flowering under long day (LD) conditions, but early heading under short day (SD) conditions (PubMed:33740293). Enhanced sensitivity to salinity, osmotic, and drought stresses (PubMed:35512208)
Cannot be disrupted, suggesting it is a functional antitoxin. No visible phenotype when the relBE4 operon is deleted
Worms exhibit a trail of old cuticle that remains attached to the posterior part of the body
Plants show reduced gravitropism, auxin-resistant root growth and AUX1 accumulation in the endoplasmic reticulum
Deficient mice are viable and have normal fertility
Cells lacking this gene are non-motile and non-flagellated. The flagellins of the mutant have larger molecular weights than their wild-type counterparts, as expected if they retain their 11- to 12-amino-acid leader peptide
Strains missing this gene do not produce hydrogenase; addition of Ni(2+) to cell cultures does not compensate this loss of function. Interestingly higher than usual urease activity was produced in this strain; this effect was increased by increasing amount of Ni(2+) in cell cultures
Mutant is not able to utilize sulfate, sulfite and ethanesulfonate for cysteine biosynthesis
Embryo lethal (Ref.9). Delayed embryogenesis and albino embryos, with seedling development blocked in the cotyledon stage (PubMed:19525416). Under heterotrophic growth conditions, seedlings develop into small albino to virescent seedlings (PubMed:19525416)
Disruption mutant does not produce fosfomycin
Delayed bolting (PubMed:29504210). Increased resistance to potyviruses such as clover yellow vein virus (ClYVV) and turnip mosaic virus (TuMV) (PubMed:29504210, PubMed:30784179)
Mutants with mutations in the RAD7, RAD14, RAD16, and RAD23 genes show partial incision defectiveness
Cells lacking this gene do not grow on L-arabinose as a sole carbon source but grow on D-galactose, D-xylose or D-glucose at the same growth rate as the wild-type strain
Abolishes the production of botrydial and accumulates high levels of the biosynthetic intermediate beta-acetoxy-15-alpha--hydroxyprobotryane and small amounts of botcinin A (PubMed:27529428)
Leads to increased sensitivity to caspofungin, Congo red, calcofluor white, and zymolyase
Reduced seeds size and delayed germination
Complete absence of iridophores (PubMed:29078341, PubMed:29317532). Fishes do not survive past 6 days post-fertilization (dpf), possibly because the swim bladder cannot fill with air (PubMed:29317532)
Reduced inhibition of hypocotyl elongation in continuous far-red light (FRc), associated with a strongly attenuated disappearance of XTH15/XTR7 transcripts
RNAi-mediated knockdown results in sterility, slow development, reduced body size, severe paralysis and reduced pharyngeal pumping
No visible phenotype when grown under normal conditions. Lack of aluminum-activated malate release and shorter roots when submitted to aluminum stress
Impairs cytosolic iron-sulfur (Fe-S) cluster assembly and decreases cytosolic tRNA thiolation
Loss of the GlcN(Ac) glycosylinositol phosphorylceramides (GIPCs) leading to a reduced sensitivity to abiotic stress (e.g. abscisic acid and salt) on seed germination. Reduced HexNAc-GIPC content. Slightly larger seeds with more seed storage lipids and proteins and larger seed coat cells
Embryonic lethality: embryos progress normally to the late egg cylinder stage at approximately 6.5 days post coitus (dpc), but development is arrested before 7.5 dpc (PubMed:9087432, PubMed:9501099). Mutant embryos fail to form a primitive streak and lack detectable mesoderm (PubMed:9087432). Homozygous embryos suffer from anemia as a result of abnormal fetal liver erythropoiesis (PubMed:9501099). No defect in globin gene expression are detected; abnormal red cell production being the result of a defect in the fetal liver microenvironment specific for erythroid cells (PubMed:9501099). Mice lacking both Nfe2l1 and Nfe2l2 die early between embryonic days 9 and 10 and exhibit extensive apoptosis due to marked oxidative stress in cells that is indicated by elevated intracellular reactive oxygen species levels and cell death (PubMed:12968018). Conditional knockout mice lacking Nfe2l1 in the liver do not show any liver damage when they are maintained in an unstressed condition (PubMed:15738389). In oxidative stress condition, they develop hepatic cancer following steatosis, apoptosis, necrosis, inflammation, and fibrosis (PubMed:15738389). Hepatocyte-specific deletion causes liver damage resembling the human disease non-alcoholic steatohepatitis (PubMed:18826952). Liver of conditional knockout mice lacking Nfe2l1 show massive hepatic cholesterol accumulation and damage due to inability to mediate response to cholesterol excess (PubMed:29149604). Conditional knockout mice lacking Nfe2l1 in the brain show proteasome impairment and progressive degeneration in cortical neurons (PubMed:21554501, PubMed:21536885)
Mice are viable and do not show any developmental defect up to 20 months of age. They have normal T-cell development and normal T- and B-cell responses
Mice have a normal life-span and show no apparent abnormalities. Females display normal fertility but males are infertile due to a lack of acrosome in their spermatozoa
Induces retarded body growth and impaired starvation resistance. Mutants have highly down-regulated DNA and protein synthesis-related genes and up-regulated stress-responsible genes
Has a decreased hyphal growth rate and is highly sensitive to SDS and fluconazole
Reduces the production of PR-toxin and leads to a large increase in mycophenolic acid production (PubMed:24239699)
Results in an almost complete loss of mitochondrial phosphatidylserine decarboxylase activity
Accumulation of wg in the Golgi, preventing wg from being secreted from the cells
Knockout mice are hypertensive
Mutants accumulate unmodified prolipoprotein due to a defect in the activity of prolipoprotein glyceryl transferase
Diffuse renal cyst development with tubulointerstitial nephropathy and disruption of tubular basement membranes in essentially normal-sized kidneys. Retinal lesions characterized by slow-onset loss of photoreceptors
Null mutant is very sensitive to manganese (PubMed:27748968, PubMed:10760146). Mutant also displays increased sensitivity to cadmium (PubMed:10760146)
Disruption of the gene decreases growth in the liver, but not in the lungs or spleen
Cells lacking this gene are auxotrophic for glycerol
Deletion of the gene abolishes gamma-butyrobetaine formation and increases L-carnitine production under anaerobic and aerobic conditions
Cells lacking this gene produce 4,4'-diapolycopene dialdehyde in addition to the 4,4'-diapophytoene precursor
Male sterility, when homozygous. Deformed and non-viable pollen grains
No visible phenotype under normal growth condition, but enhanced tolerance to heat stress and increased sensitivity to salt stress
Cells lacking this gene loss the p-aminobenzoyl-glutamate utilization phenotype
Knockout embryos are arrested at the eight- to sixteen-cell stage before compaction causing preimplantation-stage mortality (PubMed:30111536). Mutant embryos are morphologically normal up to the eight-cell stage but they do not compact, fail to develop into blastocysts and die at the morula stage (PubMed:30111536). Oocyte-specific knockout females are infertile (PubMed:30283081, PubMed:31000741). The ovaries of 8-week-old females are significantly smaller than those of wild-type females and are devoid of follicles containing more than two layers of granulosa cells and corpora lutea. The ovaries are deficient in follicles beyond the secondary follicle stage and contained fewer primordial follicles than the control ovaries. At 5 months of age, oocytes disappear in the ovaries and only primordial and primary follicles are seen in the mutant ovaries (PubMed:30283081). Oocyte-specific maternal knockout embryos display arrest at the two-cell stage (PubMed:31000741). Conditional knockout females under the control of progesterone receptor fail to undergo decidualization (PubMed:35932979)
Deletion mutant produces desulfo-A47934 but not A47934
Mutant exhibits reduced microcolony formation and greatly enhanced flagellar motility. Biofilms from the mutant strain are less able to resist acid and peroxide stresses
Single gene deletion, loss of magnetic response, about 35% iron content. Forms magnetosome chains without magnetosome crystals (PubMed:20674739). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Die during early embryonic development. Embryos show growth delay, failed to form normal trophectoderm and to expand the inner cell mass
Impairs the production of sterigmatocystin and leads to the accumulation of averufin
Females exhibit severely reduced fecundity. Defects in germline cyst development and result in ventralized eggs as a result of reduced Grk expression. Increase in the transcript levels of two retrotransposable elements, Het-A and Tart
Knockout mutant is impaired in long-term survival at stationary phase and does not persist during macrophage infection
Viable (PubMed:28017724). During development, results in delayed egg eclosion, reduced glycogen levels and extension of the third instar larval period but without change of the duration of the pupal period or final size of organ (PubMed:28017724). In the adult, results in defects in locomotor activity (PubMed:28017724). Results in disregulation of both glycolysis and the citric acid cycle (TCA) including accumulation of Succinyl-CoA and succinate, and reduction of GABA (PubMed:28017724)
Results in abnormal expansion of type II neuroblasts and in ectopic expression of pnt and grh (PubMed:28245922, PubMed:20152183). Simultaneous RNAi-mediated knockdown of N partially restores normal neuroblast numbers and prevents loss of pnt expression (PubMed:27151950). Simultaneous RNAi-mediated knockdown of erm with either HDAC3 or members of the Brm-associated protein (BAP) chromatin-remodeling complex brm and Snr1 further increases the number of type II neuroblasts compared with the single knockdown (PubMed:24618901). Simultaneous RNAi-mediated knockdown of both erm and the ETS protein pnt restores normal neuroblast numbers (PubMed:28899667). RNAi-mediated knockdown in lamina neurons and their precursor cells, results in defective targeting of R8 neurons, with 45% of them terminating in medulla layers other than the correct M3 layer (PubMed:29513217). RNAi-mediated knockdown in L3 neurons, reduces expression of NetB in L3 neurons, L3 somas and the developing M3 layer (PubMed:29513217)
Loss of heparin protection against bacterial killing by bactericidal antibodies (tested in an unencapsulated Y2220 siaD deletion) (PubMed:20133713). 2.8 (strain MC58) to 4.1 fold (strain UK013) decrease of binding to human cells depending on the bacterial strain (PubMed:27780200). Loss of binding of bacteria to 61 glycans, with an increase of binding to 41 others (in an unencapsulated MC58 siaD deletion strain); thus NHBA may mask binding of some glycans (PubMed:29695781)
RNAi-mediated knockdown of gsr-1 in mutants lacking trxr-1 causes an arrest during larval molting characterized by a partial detachment of the old cuticle and an impaired ability to reduce cuticle components. Also results in growth arrest during the postdauer molt (PubMed:21199936). RNAi-mediated knockdown causes a severe loss of viability upon arsenite treatment (PubMed:23593298)
Reduces sporulation capacities on nitrate-containing medium (PubMed:16002655). Results in the abundant formation of conidiophores (PubMed:22970834). Leads to a reduction of gliotoxin production (PubMed:23087369). Decreases the production of fumagillin, fumitremorgin G, fumigaclavine C and Glionitrin A (PubMed:24116213). Reduces also protease activity (PubMed:23087369)
Has a rough-dry colony morphology. About 50% lipooligosaccharide (LOS) biosynthesis, with LOS-III and LOS-IV being most affected. Decreased expression of a number of genes involved in LOS synthesis, such as mmar_2326, mmar_2327, mmar_2354 and papA3 (mmar_2355)
Hypersensitive to abscisic acid (ABA) leading to improved tolerance to both drought and freezing, as well as impaired seed germination in the presence of ABA
Disruption of the gene results in a complete loss of ribose 1,5-bisphosphate generation from uridine
Homozygous null embryos contain no primordial germ cells. They also lack an allantois, an extraembryonic mesodermal tissue derived from precursors in the proximal epiblast
A double ompR-envZ deletion invades HeLa cells less well than the single mutant, has a limited ability to multiply in host cells and does not cause keratoconjunctivitis in guinea pigs (PubMed:2121709). A double ompR-envZ deletion has a lowered rate of infection of HeLa cells. Bacteria are seriously impaired in their ability to spread between host cells. The double deletion strain expresses very low amounts of OmpC and no OmpF (PubMed:8359885)
Drastic decrease in chiasma formation at metaphase I associated with an absence of synapsis in prophase, due to the inability to make double-strand breaks (DSB)
RNAi-mediated knockdown results in the heme accumulation in the intestine under low heme conditions (PubMed:28581477). Simultaneous RNAi-mediated knockdown with hrg-7 results in defective heme deficiency sensing (PubMed:28581477)
Cells lacking this gene show a constitutive but glucose-repressible expression of the entire gol operon
Leads to attenuated virulence in a mouse model for pulmonary infection and an infection model based on embryonated eggs
Is able to grow on methanol in a batch culture experiment, but its growth is greatly inhibited and a toxic level of formate accumulates in the medium. Formate is not detected in the medium in a methanol-limited chemostat culture but deletion mutant shows only one-fourth of the growth yield of the wild-type
Decreased fungal colonization and impaired arbuscular mycorrhiza (AM) development during AM symbiosis with AM fungi (e.g. Glomeromycota intraradices)
Multiple developmental defects at 24 hpf (hours post fertilization) including smaller head and eyes, smaller brain ventricle, and curved notochord
Early postnatal lethal phenotype characterized by a lack of the exocrine pancreas, however, islet-like endocrine cell clusters are formed. A redirection of pancreatic precursors to intestinal fates is seen. At 16.5 dpc embryos show reduced size of cerebellar primordium and cerebellar aplasia
No visible growth phenotype, decreased energy transfer to photosystem I. Decreased accumulation of phycocyanin (PC), but no major effects on the phycobilisome supercomplex. A double cpcG1/cpcG2 deletion has even less PC (PubMed:16049785, PubMed:17468217). No change in state 2 to state 1 transitions (i.e. energy transfer to PSII) (PubMed:19152018)
Simultaneous knockout of tal-1A, tal-2A, tal-3A and tal-AA is embryonic lethal (PubMed:17439302, PubMed:17486114). In embryos chitin secretion and formation of the cuticular exoskeleton appears to be normal (PubMed:17439302, PubMed:17486114). However embryos display a loss of denticle belts and dorsal hairs (PubMed:17439302, PubMed:17486114). Segment-specific epidermal sensory organs are present and segments form normally (PubMed:17439302). The cephalopharyngeal skeleton is lost, and the head skeleton and posterior spiracles are deformed (PubMed:17439302). In the developing leg, tarsal constriction occurs but the tarsal fold does not form (PubMed:17439302). The tracheal system is abnormal displaying a loss of network integrity, an irregular tube diameter and the absence of taenidial folds (PubMed:17439302, PubMed:17486114). Cell packing is not affected, but there is no accumulation of F-actin at the sites of denticle differentiation or formation of F-actin bundles during taenidial development and tracheal tube dilation (stages 14 and 16) (PubMed:17486114). Other F-actin based developmental processes such as filopodia formation of tracheal tip cells, dorsal closure, mitosis or tight packing of denticle cells are unaffected (PubMed:17486114). Denticle and tracheal defects can be rescued by ectopic expression of any one of the four tal peptides (tal-1A, tal-2A, tal-3A and tal-AA) (PubMed:17486114)
Pleiotropic defects in the development of floral organs, cotyledons and leaves, especially in the number of organs produced. Loss of function induces an apical-to-basal shift in PIN1 polar targeting at the inflorescence apex, accompanied by defective organogenesis
Simultaneous knockout of B9d2 and tctn is viable and does not show sensory behavioral defects (PubMed:27646273). Males produce motile sperm and show only slightly reduced fertility (PubMed:27646273). Sperm flagella show weakly ultrastructural defects including broken and disorganised structure (PubMed:27646273). Length of the transition zone is decreased and recruitment of the tectonic-like complex compromised (PubMed:27646273)
Embryonic lethality due to embryo development arrest at early globular stage
RNAi-mediated knockdown in males, severely impairs vitellaria and ovary development in females resulting in a severe reduction in egg production (PubMed:35385687). Also, production of beta-alanyl-tryptamine (BATT) is impaired (PubMed:35385687)
Oogenesis arrests at early stages. This arrest is accompanied by reduced proliferation of somatic cells required for egg chamber formation, and by apoptosis in both germ and somatic cell populations
Cells grow faster and are about 55% less motile in a swarming assay, flagellar filaments are severely shortened (PubMed:27353476). Decreased levels of flagellins FlaA and FlaB but not FlaC accumulate; 3-fold more flaA and 4-fold less flaB mRNA accumulate in mid-log phase (PubMed:27353476). In double csrA-fliW deletions, flagellin levels are slightly lower than wild-type (PubMed:27353476)
RNAi-mediated knockdown increases sensitivity to paraquat, and reduces lifespan at 25 degrees Celsius, but not at 20 degrees Celsius (PubMed:19553937). Causes reduced ability of dietary restriction to extend lifespan (PubMed:24805825, PubMed:19553937). Abolishes lifespan extension completely on an eat-2 mutant background, independent of whether knockdown is ubiquitous, or targeted only to the intestine (PubMed:24805825, PubMed:19553937). Does not suppress extended lifespans of isp-1 or daf-2 mutants (PubMed:19553937). Hypersensitive to bacterial pore-forming toxin (PubMed:20209166)
Embryo lethality. Embryo development limited to the formation of a few giant cells lacking microtubules but not actin filaments. Failure to localize KNOLLE in mitotic cells
Reduced fertility. Increased homeologous recombination frequency
Mice survive to adulthood and show biomineralization defects, suc as severe amelogenesis imperfecta (AI). In addition, mice are severely hypophosphatemic and develop notable lesions in both dentin and bone
Suppresses a pbp2b (penA) deletion, grows slowly and is smaller than wild-type; about 50% of the volume of wild-type cells. Increased accumulation of FtsA and FtsZ proteins. Significant up-regulation of genes of the WalRK regulon. Also partially suppresses deletions in other genes involved in peripheral PG synthesis; gpsB, mreCD, rodA and rodZ but not cozE or mltG. Slight increase in net phosphorylation (by StpK/PhpP) of DivIA, slight decrease in phosphorylation of MapZ/StpK. Double khpA-khpB deletions have the same phenotypes
Nuclear migration defects in hyp7 hypodermal precursor cells
Reduced fecundity and impaired preimplantation embryo development with a high incidence of aneuploidy due to abnormal spindle assembly, chromosomal misalignment and spindle assembly checkpoint inactivation (PubMed:19376971). Loss of cytoplasmic lattices and aberrant organelle distribution in oocytes (PubMed:31575650). Increase in abnormal embryonic structure and loss of the embryo following compromised post-implantation embryo development (PubMed:29125140). Knockout mice show normal brain structure and weight (PubMed:33115731). Increased DNA double-strand breaks in hippocampus neural stem cells at P1 to 1 year of age (PubMed:33115731). Reduced hippocampal neural stem cell proliferation from P7 to P60 (PubMed:33115731). Reduced differentiation of neurons and dendritic spines formation in the dentate gyrus from P13 to P66 (PubMed:33115731). Impaired hippocampus-dependent spatial learning, memory and anxiety from 2 months to 1 year of age (PubMed:33115731)
Impaired accumulation of non-fluorescent dioxobilin-type chlorophyll catabolites (NDCCs) compensated by higher amounts of non-fluorescent chlorophyll catabolites (NCCs) in senescing leaves
Mutant pups die within a week after birth. They exhibit severe osteopenia as early as 18.5 dpc, with a 50% decrease in mineralized bone. Osteoblast numbers are not altered. The number, the relative surface covered by osteoclasts and the mean osteoclast surface are increased 3-fold, 5-fold and 2-fold, respectively. Bone resorption activity is increased. This phenotype is due to hypoxia in long bones resulting from placental defects
Viable and grossly normal. Mice exhibit prominent behavioral abnormalities, including locomotor hyperactivity, reduced anxiety, and decreased depression-like behavior
Several developmental defects, including defects in flower and leaf morphology (petal development), delayed flowering time and root growth. Hypersensitivity to glucose (Glc) and to abscisic acid (ABA) during early seedling growth, accompanied with an enhanced ability to accumulate ABA in response to Glc. DNA methylation establishment and maintenance defects. Altered alternative splicing pattern of several related SR genes
The cerebral cortex in the embryonic brain is a little thinner and the distribution of neurons is more disordered than that found in the wild-type littermates
RNAi-mediated knockdown impairs mitochondrial complex I assembly. Reduced body size, reduced fat content, fewer embryos and an extended egg laying period. These phenotypes are exacerbated when nuaf-3 is simultaneously knocked down
Absence of malonylated anthocyanins
Null cells show a motility defect; migration speed of vegetative cells is reduced to 73% of that of the wild-type, an aggregation ability at lower cell density and an ability to initiate and finish aggregation rapidly. Have altered cAR1 expression
Display directionality defects during chemotaxis and increased motility (PubMed:20493808)
Cells cannot grow on acetate and have lost the resistance to high levels of acetate, a characteristic of wild-type A.aceti
RNAi-mediated knockdown in females mated to wild-type males results in laying of fewer eggs due to impaired sperm retention and increased sperm displacement by rival ejaculates (PubMed:24395329). Females also show a reduced hatch rate and only 20% of their progeny reach the adult stage (PubMed:24395329). Unhatched eggs are fertilized but contain a clear polar body rosette instead of an embryo, suggesting that the eggs activate and complete meiosis but then embryogenesis is arrested (PubMed:24395329). Wild-type females mated to males that undergo RNAi-mediated knockdown, display a slight reduction in fertility but lay the same number of eggs and have the same hatch rate as those mated to wild-type males (PubMed:24395329). RNAi-mediated knockdown in the dorsal paired medial neurons impairs middle-term memory (MTM), but has no effect on long-term memory (LTM) formation, normal aversion learning and anesthesia-resistant memory (ARM) (PubMed:27629706). RNAi-mediated knockdown in all mushroom body neurons has no effect on learning, ARM and LTM (PubMed:27629706). However, simultaneous knockdown with Nep3 does impair LTM, and simultaneous knockdown with both Nep3 and Nep4 results in a further reduction in LTM formation (PubMed:27629706). Simultaneous knockdown with only Nep4 has no effect on LTM formation (PubMed:27629706)
Increased DNA replication initiation rate. Reduced growth rate
Mutants are resistant to proline-rich antimicrobial peptides of eukaryotic origin
Mice show deficits in spike-timing-dependent long-term potentiation, exhibit decreased memory in amygdala-dependent fear conditioning and fail to recognize danger in innately aversive environments
Loss-of-function mutation clca-1 leads to an altered nitrate content and hypersensitivity to chlorate
No visible phenotype. Myb24 and myb57 double mutant has petals that grew to a final height parallel to the pistil. Myb21 and myb24 double mutant is partially sterile and has petals that just grew out of the sepals but ended at a lower level than the stigma. Myb21, myb24 and myb57 triple mutant has a strongly reduced fertility and an arrested growth of the petals that never grew out of the sepals. Myb24 and myb108 double mutant has a reduced fertility and a greatly reduced seed set
Pleiotropic phenotype, including early flowering, increased petiole length and leaf lamina folding toward the abaxial surface in an asymmetrical manner relative to the primary vein. Hypersensitivity to 2,4-dichlorophenoxyacetic acid and paclobutrazol
Mice exhibit normal T-cell, B-cell, and phagocytic cell profiles in the spleen and Ly6G(+)neutrophils in peripheral blood but macrophages show impaired killing activities (PubMed:21551061). Infection of Gbp1-/- mice results in severe listeriosis or M. bovis BCG-induced morbidity owing to massively increased bacterial replication in the target organs, whereas wild-type mice can control the infection (PubMed:21551061)
Death in mid to late embryogenesis with large anterior and dorsal holes
Early senescence phenotype (PubMed:21645148, PubMed:19773385, PubMed:24368788). Defects in autophagosome formation. Enhanced resistance to powdery mildew (Golovinomyces cichoracearum) and mildew-induced cell death. Constitutive expression of defense-related genes (PubMed:21645148). Increased number of peroxisomes and accumulation of peroxisomal proteins (PubMed:24368788). Reduced sensitivity to programmed cell death (PCD) induced by both hydroxyurea and the bacterial avirulent factor avrRpm1 (PubMed:24285797)
Delayed growth and development. Late flowering and increased sensitivity to salt stress
Morphological defects in the follicular epithelium where cells in the anterior part of the epithelium stay cuboidal and fail to stretch (PubMed:23266957). RNAi-mediated knockdown in eye and wing imaginal disks results in tissue overgrowth (PubMed:22075147, PubMed:22075148). It also gives rise to transcriptional up-regulation of a number of targets of the Hippo/SWH pathway (PubMed:22075147). RNAi-mediated knockdown in wing imaginal disks results in strong elevation of yki activity (PubMed:22075148). RNAi-mediated knockdown in the adult posterior midgut results in an increased number of intestinal stem cells (PubMed:25160975). RNAi-mediated knockdown in the embryo results in disordered migration of primordial germ cells out of the gut epithelium, their dispersal within the embryo and embryonic death (PubMed:25589578)
Intermediate magnetic response, few large magnetosomes with magnetite, makes many very small, irregular hematite crystals. Near wild-type localization of MamC (PubMed:24816605). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
RNAi-mediated knockdown increases the proportion of aged worms with fragmented mitochondria from 5% to 59% and causes a 30% decrease in cellular ATP levels at day 8 in adult (PubMed:32350153). RNAi-mediated knockdown decreases survival upon infection with P.aeruginosa (PubMed:20133860, PubMed:28662060). RNAi-mediated knockdown reduces induction of expression of infection response gene, irg-1, in response to P.aeruginosa (PubMed:26876169, PubMed:20133860)
Homozygous Knockout females fish for SLC39A9 show significant reductions in fecundity, embryo viability, and growth of their offspring. Furthermore, a high proportion of eggs fail to undergo normal chorion elevation during activation
Right-handed twisting of petioles. Enhanced twisting when associated with SP2L disruption
Lethal at the first instar larval stage (PubMed:31869331). RNAi-mediated knockdown in salivary glands reduces phosphatidylserine (PS) levels and depletes Akt1 from the plasma membrane contributing to cell growth defects probably by affecting the insulin pathway; causes a shift from phospholipid synthesis to neutral lipid synthesis, which results in ectopic lipid accumulation in third instar larval salivary glands; reduces mitochondrial PS levels thereby impairing mitochondrial protein import and mitochondrial integrity (PubMed:31869331)
Worms lacking both symn-2 and mec-8 die during late embryogenesis. Lethality is probably due to defects in alternative splicing regulation
Defects are the cause of a phenotype related to primary ciliary dyskinesia (PCD). Embryos display heart-looping defects at 36 hours post-fertilization and bilateral or lack of spaw expression at the left lateral plate mesoderm in 14 somite embryos, consistent with compromised fluid flow at the Kupffer's vesicle due to impaired ciliary motility
Null mice have hearing impairments with stria vascularis (SV) in these mice exhibiting atrophy and disorganized marginal cells resulting in significantly smaller endocochlear potentials (EPs). These decreased EPs, together with abnormal KCNQ1 expression patterns, increase with age. There is a decrease in plasma, liver, and macrophage sphingomyelin (59%, 45%, and 54%, respectively) and a dramatic increase in glycosphingolipids. No change in ceramide, total cholesterol, phospholipids nor triglycerides levels. Diminished macrophage MAP kinase and NFKB1 activation is observed. Atherosclerosis in SMS1(-/-)/LDLR(-/-) mice is significantly decreased
Enlarged starch grains in endosperm, spherical starch grains in pollen, decreased number of chloroplasts in leaves, enlarged chloroplasts with increased number of starch granules in leaves, reduced number of total panicles and slight reduction of seed weight
Destabilization of ComFA (PubMed:17630974)
Impaired photoautotrophy (PubMed:23027666). Seedling lethal (PubMed:23027666). High chlorophyll fluorescence phenotype and severely affected photosystem II (PSII) subunits accumulation associated with a drastically decreased synthesis of the reaction center protein D1 due to a reduced translation initiation (ribosomal loading) of the corresponding psbA mRNA (PubMed:23027666). Plants lacking both HCF173 and HCF244 display stronger PSII defects (PubMed:23027666)
Loss of the ability to utilize both D- and L-stereoisomers of alanine as sole sources of carbon, nitrogen and energy for growth (PubMed:13292). A double dtd-dadA deletion mutant has a pronounced growth defect in the presence of D-tyrosine (PubMed:10383414)
Decreased nitrate content in root phloem exudates. Enhanced root-to shoot nitrate transport and plant growth under high nitrate conditions
Mice are viable and fertile and show no obvious abnormal behavior. The corpus callosum, the main axon tract connecting the left and right cerebral hemispheres, is not formed in a significant fraction of newborns. This is associated with defects in guidance of callosal axons across the midline
Defects cause embryonic stem cell lethality, abnormal embryonic development and sensitivity to ionizing radiation
Morpholino-injected embryos show heart function anomalies detectable after 48 hpf. Heart defects initially manifest as pericardial edema, changed heart rate and reduced blood circulation, and later result in ventricular failure and blood circulation block
Dwarf phenotype with early flowering under long day (LD) conditions. Defect in floret development
Impairs the production of fusaric acid (PubMed:24389666, PubMed:26662839)
Fails to produce F9775 A and B, but accumulates gerfelin and continues to yield orsellinic acid (PubMed:20174687)
Sensitive to methyl methanesulfonate (MMS, causes DNA breaks), thiabendazole (TBZ), sirolimus (TORC1 inhibitor), thermal stress, and cold (PubMed:28775286). Abnormal septation during thermal stress (PubMed:28775286). Global protein levels are unaffected (PubMed:28775286)
Impairs the production of the three C-8 esterified compounds T-2 toxin, 8-propionyl-neosolaniol (P-NEO) and 8-isobutyryl-neosolaniol (B-NEO), and accumulates the C-8-hydroxylated compound neosolaniol (NEO) along with secondary levels of 4,15-diacetoxyscirpenol (DAS) (PubMed:14532047)
No change observed, indicating that it could be not necessary for the Ara4N addition to lipid A and polymyxin resistance
Heterozygotes fail to form cohesive and stratified epithelium in their optic vesicles. Average somite angle is increased by 30% and the posterior central nervous system displays a gain of Rohon-Beard sensory neurons. Defects are the result of decreased Hh/shh-signaling demonstrated by the reduced expression of the Hh/shh target gene ptch2
Cells lacking this gene are unable to decarboxylate gallic acid and protocatechuic acid
Not essential for growth in the absence of DNA damage. 320-fold reduction in NHEJ on blunt-ended DSB, with a loss of nucleotide insertions. 100-fold less efficient repair of 5'-overhang DSBs with little nucleotide insertion. Upon deletion, the fidelity of DNA repair depends on the form of the DSB; for blunt-ends fidelity is very low, for 5'-overhangs remains 50% faithful, for 3'-overhangs repair is fully faithful. NHEJ on blunt-ended plasmid is 24-fold further decreased in a triple ligC1-ligC2-ligD deletion. In quadruple ligB-ligC1-ligC2-ligD deletions NHEJ on blunt and 5'-overhangs is 0.22 and 0.12% of wild-type respectively; only 4-fold decrease in 3'-overhang NHEJ. 100-fold decrease in viability when exposed to ionizing radiation in late and stationary phase; 1000-fold decrease in a double ligD-ku deletion. Decreased resistance to desiccation-induced DSBs. Mycobacterium phage Omega and Corndog are unable to infect a deletion strain. Loss of NHEJ on incompatible 3'-chromosomal overhangs, partial reduction in single-strand annealing DSB repair
Leads to a clear mislocalization of both MLS1 and MLS2 to the cytosol
Reduced height and weight of senescent plants due to reduced lignin content
Sepia eye color, due to defects in 2-amino-6-acetyl-3,7,8,9-tetrahydro-3H-pyrimido(4,5-b)[1,4]diazepin-4-one (pyrimidodiazepine or PDA) synthesis, a key intermediate in red eye pigment drosopterin biosynthesis
No cleavage of signal peptides
Deficient mice spontaneously develop calcification and elastic fiber abnormalities in blood vessels and Bruch's membrane in the eye, whereas no clear changes were seen in the extracellular matrix of the skin. Calcification of blood vessels is most prominent in small arteries in the cortex of the kidney, but in old mice, it occurrs also in other organs and in the aorta and vena cava (PubMed:15888484). Mice have reduced inorganic pyrophosphate (PPi) plasma levels, a strong inhibitor of mineralization (PubMed:24277820)
Cells are unable to sporulate when in pure population although they will sporulate when in chimerae with wild-type cells. Cells form loose aggregate before disaggregating. Cells aggregate and disperse repeatedly. After starvation, cells completely fail to stream and display cAMP relay defects. Fail to rotate. comC-/tgrC1-/tgrD1- triple mutants fail to form spores
Strains insertionally inactivated in the sigM gene form aberrantly shaped cells that swell and lyse in medium containing high levels of different salts (PubMed:10216858). 70-fold increased sensitivity to the beta-lactam antibiotic cefuroxime (CEF), double sigM-sigX mutants have 130-fold increased sensitivity to CEF (PubMed:22211522). Also sensitive to other antibiotics (PubMed:22211522)
RNAi-mediated knockdown results in 79% embryonic lethality and 19% larval lethality. Abnormal localization of epidermal structural protein pat-12 during embryogenesis
Mice exhibit disorganization and disruption of the apical junctional complex, resulting in hyper-proliferation of neuroblasts and brain dysplasia. Loss of Lgl1 in mice results in formation of neuroepithelial rosette-like structures, similar to the neuroblastic rosettes in human primitive neuroectodermal tumors. The newborn Lgl1(-/-) pups develop severe hydrocephalus and die neonatally. Due to the loss of mitotic spindle orientation, a large proportion of Lgl1(-/-) neural progenitor cells fails to exit the cell cycle and differentiate, and, instead, continues to proliferate and dies by apoptosis. Dividing Lgl1(-/-) cells are unable to asymmetrically localize the Notch inhibitor Numb, and the resulting failure of asymmetric cell divisions may be responsible for the hyperproliferation and the lack of differentiation
RNAi-mediated knockdown in 5-HT1B+ neurons leads to dis-inhibition of male aggressive behavior
High rate of neonatal mortality. Embryonic growth or birth weight are not effected, while lipid accumulation is severely reduced in brown adipose neonates at 24 hours of age. Mice weigh significantly less than controls from postnatal day 5 onward. Adult mice are lean, with significant reductions in brown and white adipose tissues, and in the percentage of body fat. Mice are also resistant to weight gains and obesity when maintained on high-fat diets
Disruption of this gene completely abolishes the presence of m(5)s(2)U in tRNAs, although its precursor, 5-methyluridine (ribothymidine) is present; other nucleoside modifications remain unchanged (PubMed:19037260). These deletion mutants exhibit a temperature-sensitive phenotype similar to the ttuA and ttuB deletion mutants, they are unable to grow above 80 degrees Celsius (PubMed:19037260). They are also unable to synthesize thiamine and molybdenum cofactor (PubMed:19037260). No TtuB-protein conjugate is formed and only free TtuB is detected in the ttuC deletion strain (PubMed:22467871)
Reduces longevity and female fertility, but increases resistance to oxidative stress and UV irradiation-induced pupal lethality (PubMed:23593018). Double knockouts for DJ-1beta and Daxx restore normal number of dopaminergic neurons, locomotor activity and sensitivity to oxidative stress and UV-induced damage (PubMed:23593018). RNAi-mediated knockdown results in increased resistance to oxidative stress (PubMed:23593018)
Deletion mutants grow faster and have higher viabilities in rich media, but have lower viabilities than the wild type in the late stationary phase
Mutant is highly sensitive to killing by tert-butyl hydroperoxide (t-BHP) and H(2)O(2)
Flies exhibit disappearance of the follicular cells of the ovary and abnormalities of the associated germline derivatives, leading to failure of egg production
Homozygous deficient mice developed more lung tumors during 1-2 years than heterozygous or wild-type mice
RNAi-mediated knockdown results in sterility in 20% of animals (PubMed:15811859). Sterile animals have severe oogenesis defects and partially differentiated germ cells accumulate in the proximal arm of the gonad (PubMed:15811859). Furthermore, germ nuclei in the distal region of the gonad are enlarged, and their nucleoli are misshapen (PubMed:15811859). Sterile animals also have mitotic defects whereby pairs of chromosome bridge, which is indicative of a defect in coordination between endoreduplication and the nuclear division cycle (PubMed:15811859)
No visible phenotype. T-cell development, selection and activation in vivo appear to occur normally in knockout mice
Reduced colonization of the roots by the mutualistic fungus Piriformospora indica
100-fold increase in expression of bacterial lipoprotein FTN_1103, increased stimulation of interleukin-6 (Il6) production in a Tlr2-dependent fashion by C57BL/6 mouse bone marrow-derived macrophages. In mice nearly 10(4)-fold less virulent than wild-type bacteria. A double cas9-FTN_1103 disruption significantly decreases Il6 production. Mice immunized with this gene deleted were protected against subsequent infection with wild-type bacteria
Mutant are aconidial, female sterile, have reduced growth rates and form hyphae that coil in a counterclockwise direction, opposite to that of the wild-type
Partial loss of methylation and silencing of RdDM targets, probably due to the redundancy with NRPE5B
Mice lacking both Kcnc3 and Kcnc1 are born at the expected Mendelian rate, but the pups do not thrive and all die about 26 days after birth when kept together with other littermates. Their failure to thrive may be due to motor problems; mutant pups survive when fed separately, but 45 days after birth their body weight is only 50 to 60 % of that of wild-type (PubMed:11517255). They appear uncoordinated and display severe ataxia, myoclonus and spontaneous whole-body muscle jerks, but display no obvious alterations in brain morphology (PubMed:11517255, PubMed:15217387, PubMed:16923152). Mice lacking only Kcnc3 still display ataxic gait and decreased motor skill, but to a lesser degree than mice lacking both Kcnc3 and Kcnc1 (PubMed:16923152, PubMed:18448641). Purkinje cell-specific expression of Kcnc3 restores normal motor skills (PubMed:18448641). Mutant mice are also much more sensitive to ethanol and fall sideways at ethanol concentrations that have no effect on wild-type mice (PubMed:11517255). They display increased locomotor and exploratory activity (PubMed:11517255, PubMed:15217387). Mice lacking Kcnc3 or both Kcnc3 and Kcnc1 are resistant to the tremorogenic agent harmaline (PubMed:15217387)
Increased resistance to the base analog 8-azahypoxanthine
Hypersensitivity to cytokinins
Homozygous null mutants die in utero some time between 12.5 and 14.5 dpc. 12.5 dpc embryos have a smaller body size and hemorrhage in the head. Heterozygous mutants are fertile and show no abnormalities in growth and development, cardiomyocytes exhibit significantly reduced contractility
Abnormal distribution of male-derived sperm in the hermaphrodite uterus following mating, with sperm accumulating at the spermathecal-uterine valve 1 hour following mating
Cells lacking this gene accumulate coproporphyrinogen III under anaerobic conditions
Complete sterility of male and female gametophytes due to altered meiosis (PubMed:30589140, PubMed:31266799). Striking reduction in the number of meiotic crossovers (PubMed:30589140, PubMed:31266799)
Embryonic lethality (PubMed:23708998, PubMed:27523608). Specific deletion in immune cells leads to acute systemic inflammation characterized by rapid weight loss, increased levels of pro-inflammatory cytokines in serum, neutrophilia with all the hallmarks of emergency granulopoiesis (PubMed:27523608). Specific deletion in T- or B-cells generates healthy mice with no overt inflammatory phenotypes (PubMed:27523608). In contrast, specific deletion in myeloid cells results in a strong inflammatory phenotype, characterized by chronic inflammation and autoimmunity, caused by sterile autoactivation of inflammatory pathways (PubMed:27523608)
Semi-dwarf, with reduced male fertility and shorter panicles with arrested branches and abnormal spikelets
RNAi-mediated knockdown results in sterility
Mice show a metabolic phenotype of significantly reduced adipose tissue mass, higher circulating triglyceride levels, glucose intolerance, and hyperinsulinemia, consistent with a lipodystrophy. Cells from various tissues, including lung epithelium, intestinal smooth muscle, skeletal muscle, and endothelial cells showed no detectable caveolae cells
Mosquito salivary gland sporozoites have a reduced ability to infect BALB/c mice (PubMed:20527960). Parasite load in the liver of C57BL/6 mouse infected with knockout sporozoites gives mixed effects; in some cases, the parasite load in the liver is not affected and in other cases, it is reduced (PubMed:28642498). In infected BALB/c mice, causes no differences in blood parasitemia levels and in the onset of morbidity (PubMed:19218089). Severe reduction in ornithine production during murine erythrocyte infection (PubMed:19218089)
USP20-deletion mice produce decreased type I IFNs and proinflammatory cytokines and exhibit increased susceptibility to lethal viral infection compared with WT mice
Mutant mice are smaller than wild-type littermates, and most die during the second week after birth. They exhibit impaired motor coordination and balance, head bobbing and tilting, and spinning during perionds of hyperactivity. Mutant mice display a strongly reduced number of neurons in the dorsal root ganglion, trigeminal ganglion, mesencephalic trigeminal nucleus, vestibular ganglion and nodose ganglion. Cell death of vestibular ganglion neurons is strongly increased 14 days after birth. The number of facial motor neurons and sympathetic superior cervical ganglion neurons are not decreased. Mutant mice display defects in the innervation of the inner ear, but respond to auditory stimuli. Tne inner ear from mutant mice has fewer nerve fibers that enter the sacculus, utricle and ampulla of the semicircular ducts, and axons fail to contact their target cells and terminate in the connective tissue adjacent to the sensory epithelia of the sacculus
Mutants display an increased body growth rate during larval development and male tail morphological defects characterized by thickening of the male rays, with rays 5 and 6 the most severely affected in most cases. RNAi-mediated knockdown results in increased body length
Essential for photosynthetic CO(2) fixation, cells do not grow in normal air, but will grow in 5% CO(2), called a high-CO(2) requiring phenotype, HCR (PubMed:1584776). Cells do not grow in 2% CO(2), and grow more slowly than wild-type at 5% CO(2). 70% reduction in the efficiency of RuBisCO carboxylation activity from isolated carboxysomes; there is probably considerable oxygenation of the substrate (PubMed:24585024)
Morpholino knockdown of the protein leads to various development defects, including smaller eye, abnormal head shape, malformations of the jaw, cardiac edema and a delayed yolk sac resorption (PubMed:23073385). Most animals die by 1 week of age (PubMed:23073385)
No visible phenotype under normal growth condition, but reduced epidermal fluorescence due to reduced content of sinapoylmalate and hyper-fluorescence of trichomes due to accumulation of sinapic acid-derived polyketide
Leaves have a reduced capacity for cold acclimation, appear water-soaked, leak electrolytes, and accumulate reactive oxygen species constitutively. Sugar-sensitive germination, delayed growth, modified respiration pathway, and altered stress responses
Plants are late-flowering
Severe dwarfing and seedling lethality. Collapsed xylem vessels. Reduced glucuronoxylan and homogalacturonan content in cell wall
Null mice are viable and fertile, but have enhanced coagulation resulting in decreased bleeding times. The observed enhanced platelet activation mediates the accelerated angiogenic switch. Also enhanced fibrinolysis. Animals are unprotected against Candida fungal infection. Also shows larger tumor volume in cancerous state, an excessive stimulation of tumor angiogenesis, a suppression of tumor immune respons and an increased tumor growth and metastatic spread
Essential, it cannot be deleted. Upon depletion cells grow very slowly while aconitase and succinate dehydrogenase, both of which contain Fe-S clusters, have decreased activity. Upon depletion no change in reactive oxygen species is observed, while a modified bacillibactin (BB), an endogenous siderophore, is produced
Reduced plastidial pyruvate kinase activity and altered seed oil content leading to wrinkled seeds, retarded embryo elongation and reduced seed germination
OXPHOS incompetent because of a profound and specific reduction of complex II activity
No obvious phenotype at birth, but mutant mice are prone to sudden death from seizures. When fed ad libitum, adult mice display higher body weight and increased adiposity compared to wild-type littermates. No difference in body weight is found when they receive the same amount of food as their wild-type littermates, indicating that the increased body weight is due to altered feeding behavior. Overweight older mice develop insulin resistance and impaired glucose tolerance. Young mice exhibit insulin resistance, but normal glucose tolerance, due to increased insulin levels in the blood. Insulin resistance is reversed when Htr2c expression is restored in pro-opiomelacortin neurons. Mutant mice display impaired activation of pro-opiomelacortin neurons in the paraventricular nucleus of the hypothalamus, leading to decreased release of CRH and corticosterone. Likewise, they exhibit blunted behavorial responses to anxiogenic environments and stress
Increased sensitivity to the acetylcholine esterase inhibitor Aldicarb, which results in accelerated paralysis likely due to enhanced acetylcholine release by ventral cord neurons and enhanced depolarization of muscles on one side of the body (PubMed:18614679). Increased locomotion and body curvature (deeper bends) in response to induced GABA release of GABAergic motor neurons, which in wild-type animals results in acute body relaxation (PubMed:21613582). Double knockout with gbb-1 also results in increased sensitivity to Aldicarb and accelerated paralysis, but in addition results in irregular locomotory behavior characterized by increased speed of locomotion, decreased turning frequency, reduced rate of reversals, and an increased maximal distance covered in a 40 second interval (PubMed:18614679). Double knockout with the muscarinic acetylcholine receptor gar-2 results in a slight increase in sensitivity to Aldicarb and accelerated paralysis 50 minutes following exposure to Aldicarb as compared to the gar-2 and gbb-2 single mutants (PubMed:18614679). Double knockout with the GABA(A) receptor unc-49 results in body elongation defects in response to induced GABA release of GABAergic motor neurons (PubMed:21613582)
Homozygous knockout mice lacking Slc30a10 are born at expected Mendelian ratios and do not display overt phenotype until postnatal day 16 to 18 (PubMed:28461334). After weaning they fail to gain weight, are smaller, and die prematurely (PubMed:28461334). Manganese levels are elevated in the tested tissues including brain, liver, blood and thyroid and manganese toxicity induces an hypothyroidism phenotype (PubMed:28461334)
Impairs ATG17 localization to the preautophagosomal structure (PubMed:24793651). Still forms preautophagosomal structures (PAS) in proximity to the vacuolar membrane (PubMed:26442587)
Reduced response to phytosulfokine (PSK) in roots (PubMed:25062973). Small rosettes and dwarf plants as well as early senescence of older leaves (PubMed:25062973). Reduced fertility, premature senescence and severe dwarfism in psi2-1 psi3-1 plants due to reduced cell growth and proliferation as well as premature leaf growth arrest (PubMed:25062973). Plants missing both PSI1 and PSI3 are dwarf and contain reduced starch levels; these phenotypes are partially rescued by sucrose (PubMed:25062973)
Adults exhibit increased cardiac mass, larger cardiomyocytes, higher ejection fractions (the amount of blood pumped out of the ventricles with each contraction) and reduced sodium/potassium-transporting ATPase (NKA) activity in a mixed strain background of C57BL/6 and 129/SvJ (PubMed:15563542). Decreased cardiac contractile function and increased NKA activity in a congenic C57BL/6 background (PubMed:18065526). Increased glutathionylation of the NKA beta subunit ATP1B1 (PubMed:21454534). Decreased excitability of neurons which secrete gonadotropin-releasing hormone and delayed female puberty (PubMed:19187398)
Abolishes the biosynthesis of communesins A and B and leads to the accumulation of desmethyl versions of communesins A and B, including communesin C
Mice display low blood pressure (hypotension), elevated serum potassium, anemia, urine concentration defects and gross renal structural defects (PubMed:8642790, PubMed:9231832, PubMed:11723129, PubMed:12777443). Male mice also have reduced fertility: sperm show defects in transport within the oviducts and in binding to zonae pellucidae (PubMed:7753170, PubMed:9482924). Mice also show impaired metabolism, characterized by increased energy expenditure, reduced fat mass and improved glucose clearance (PubMed:18443281). Expression of isoform Somatic in testis in knockout mice does not restore male fertility (PubMed:10831599). In contrast, expression of isoform Testis-specific in the sperm of knockout mice only restores fertility without curing other defects (PubMed:9664078). Isoform Testis-specific can substitute for isoform Somatic for normal kidney structure but not for normal blood pressure when expressed in vascular cells of knockout mice (PubMed:11723129, PubMed:12777443, PubMed:16270063)
Mice lacking somatic isoform display normal male fertility
Early flowering (PubMed:18950478). Altered fruit development (PubMed:22946675). Siliques with narrow replum (PubMed:22946675). Reduced number of lateral roots (PubMed:22946675)
Abnormal mitochondrial morphology, functionality and distribution (PubMed:23370715). Reduced sensitivity to isoxaben (an herbicide inhibiting cellulose synthesis and altering the cell wall) and to waving-inducing oxylipins such as 9-hydroxyoctadecatrienoic acid and derivatives (9-HOT, 2-HOE, 13-HOT, 13-HOD, 13-KOD, 12,13-KHOD, 9-HOT, 9-HOD, 9-KOT, 9-KOD and 9,10-KHOE) treatment leading to an altered root development (e.g. increased numbers of lateral roots, disrupted callose accumulation and altered root waving); 9-HOT is a potent inducer of root waving and an endogenous modulator of lateral root formation (PubMed:17369372, PubMed:23370715, PubMed:26417008). Enhanced susceptibility to pathogenic bacteria (e.g. Pseudomonas syringae pv tomato) both avirulent (e.g. Pst DC3000 avrRPM1) and virulent (e.g. Pst DC3000) strains associated with reduced and delayed expression of salicylic acid (SA)-responding pathogenesis-related genes (e.g. PR1, PR2 and PR4) and of 9-HOT-responsive genes (e.g. PER71, PIF3, CYP71A12 and GLP9); these phenotypes are associated with reduced callose deposition upon infection (PubMed:17369372, PubMed:23370715, PubMed:26417008). Increased susceptibility to the obligate biotrophic pathogenic fungus Golovinomyces cichoracearum (PubMed:26417008). Defective in 9-lipoxygenase (9-LOX)-derived oxylipin synthesis, but normal responses to brassinosteroids (BRs) (PubMed:26417008)
90% and 80% reduction in molybdate content in shoots and roots respectively. Reduced growth of roots and shoots under conditions of limited molybdate supply. 9-fold reduction in molybdate content in leaf vacuoles. Decreased nitrate reductase activity due to a reduced molybdate uptake
Plants missing both JMJ20 and JMJ22 exhibit reduced seed germination efficiency during PHYB activation after red light (R)-pulse treatment due to an impaired H4R3me2 removal-dependent derepression of GA3ox1 and GA3ox2 causing lower endogenous gibberellic acid (GA) biosynthesis
Plants lacking myb10 and myb72 fail to induce transcript accumulation of the nicotianamine synthase genes NAS4 and NAS2 in iron ions (Fe) deficiency, and exhibits nickel (Ni) and zinc (Zn) sensitivity
Very slow growth and absence of expansion of cotyledons or development of normal leaves or floral organs. Short root with an excess of abnormal root hairs. Extremely rare production of some photosynthetic tissue
Die as late third-instar larvae. Mitotic neuroblasts in larval brains exhibit high levels of aneuploidy: chromosome alignment is compromised during spindle formation, many chromosomes display persistent mono-orientation which leads to aneuploidy during anaphase. Chromosome behavior is also disrupted during both meiotic divisions in spermatocytes: the entire chromosome complement often moves to only one spindle pole
Morpholino knockdown of the protein causes nephrosis phenotype of periorbital edema and total body edema in 54% of embryos at 120 hpf. The glomerular structures are altered, with podocyte foot process effacement and disorganization, rarefaction of slit membranes, and disorganization of the glomerular basement membranes
Deletion significantly reduces target tissue survival during calcium-daptomycin treatment and increases susceptibility to host defense cationic antimicrobial peptides
AGBL2 and AGBL3 double knockout mutant mice are viable and display no obvious phenotypic alterations. Show an increase in tubulin and MYLK polyglutamylation in sperm
Mice develop and grow normally but show infertility in both sexes. Gametogenesis is affected with germ cells that do not progress beyond early meiotic prophase, with subsequent germ cell loss in both males and females
Reduces the SdhB protein level resulting in an approximate 50% reduction in SDH enzymatic activity
The mutant is unable to use hemin as an iron source but retains the ability to use ferric chloride and the siderophore 2,3-DHBA. Exhibits an accelerated loss of viability after 144 hours of culture in low-iron minimal medium. Exhibits significant attenuation in murine macrophages and is unable to maintain a chronic spleen infection in mice
Loss of resistance to antitubercular drug BTZ043, but still resistant to PA-824
Mice die of white blood cells proliferation that accumulate in the bone marrow and interfere with the production of normal blood cells
Strongly reduces the production of patulin and leads to the production of a distinct dark-red pigment
Disruption mutant has reduced ability to catabolize D-xylonic acid. YjhH-yagE double mutant cannot use D-xylonate as the sole source of carbon
Appears essential for growth, since no null mutants can be obtained. Conditional depletion of this gene leads to very elongated cells, 1.5 to 1.75 times wider than wild-type, displaying an unusual distribution of the DNA, which appears to be located around the periphery of the cell rather than throughout the cytoplasm. The TsaE depletion phenotype is suppressed by overexpressing the response regulator RstA
Deletion causes substantial alterations in cell envelope structure, and a significant defect in resistance to solvent and shear stresses. Mutants shed exterior layers of the cellular envelope (PubMed:16946272). Deletion mutants show a significant decrease of the UV resistance, especially under desiccation conditions (PubMed:26909071). Deletions mutants show large disruptions in the OM, but the S-layer is unchanged compared to wild-type cells (PubMed:35943982)
Mildly fast-growing seedlings regardless of the presence of an exogenous carbon source, accompanied by a better beta-oxidation and mobilization of seed storage oils
Loss of staphylolytic activity (lysis of heat-killed S.aureus)
Normal vegetative growth but fertility defects leading to reduced seed number per silique, due to abortion of male and female gametophytes characterized by abnormal tetrahedral structure becoming either asymmetric tetrads or polyads containing more than four products, because of impaired class I crossover (CO) formation during meiosis
Deletion mutant is not able to colonize the stomach in mice (PubMed:12933888). It shows also a significant loss of viability upon exposure to nitric oxide (PubMed:26082024)
No visible effect on senescence
In vitro, loss of sadA does not affect cell aggregation, biofilm formation and adhesion to epithelial cells. Disruption does not affect the course of infection
Requires p-aminobenzoic acid for growth
RNAi-mediated knockdown inhibits expression of hsp-60 when adults are exposed to conditions causing mitochondrial unfolded protein stress
Deletion of the gene increases the expression of the ComA-dependent genes rapA and rapC itself
Cilia absent or reduced, virtually no cilia of the normal 5 uM mean length
High embryonic lethality. Hermaphrodite animals are partially fertile and those that produce sperm and oocytes have reduced brood sizes and display smaller germlines. Hermaphrodite gld-4 and gld-2 double mutants are fully sterile and display either an earlier meiotic arrest than gld-2 single mutant or a failure to commit to meiotic progression and a return to mitosis
Cells die quickly
Morpholino knockdown of the protein results in ventral body curvature, hydrocephalus, and cystic kidneys
About one-third of zygotic mutants survived to adulthood. They do not exhibit any loss of methylation imprints at ICRs in the brain and liver at 12.5 dpc (PubMed:30602440). Double zygotic mutations of ZFP57 and ZNF445 are embryonically lethal and embryos show no gross morphological abnormalities but significant reduction in size and weight at 11.5 dpc, a phenotype more pronounced than in ZFP57 mutant mice with a more severe loss of impinting (PubMed:30602440)
Decreased protein levels of DRM complex components including lin-37, lin-52 and lin-54 (PubMed:17075059). Double knockout with the programmed cell death regulator mcd-1 results in 100% lethality during the L1 stage of larval development (PubMed:17237514). RNAi-mediated knockdown in a ced-1 mutant background results in reduced somatic cell apoptosis (PubMed:27650246)
Marked reduction in binding of the eIF-3 core complex to 40S ribosomes
Mice lacking Pcdp1 have several phenotypes associated with primary ciliary diskinesia, including hydrocephalus, male infertility and respiratory abnormalities. Hydrocephalus is observed on the B6 background but not on the 129 background. Male infertility is observed on both backgrounds and is due to an absence of mature spermatozoa in the seminiferous tubules
No visible phenotype. Not essential for normal resistance to microbial infections. Grancalcin-deficient neutrophils exhibit decreased adhesion to fibronectin, and a strongly reduced number of focal adhesion complexes
Mice are either sterile or produce few small litters. In these mice, fewer eggs become activated and the Ca(2+) transients associated with fertilization are absent or delayed. Sperm are unable to initiate the acrosome reaction
Mice were born at non-Mendelian rates and develop morphological, such as craniofacial abnormalities, snout deviation due to altered nasal bone development and incomplete fusion of the frontal bone suture (PubMed:32217665). Mice display reduced body size and evidence of metabolic defects (PubMed:35033535). Mice also show behavioral abnormalities (PubMed:32217665). Deletion in embryonic stem cells (ESCs) results in a decrease in global translation rate, spontaneous loss of pluripotency and compromised differentiation potential (PubMed:32783360, PubMed:32217665). Cells show abolished level of N6-methylation of adenine(1832) in 18S rRNA (PubMed:35033535)
Mice show severe muscle weakness and postnatal growth retardation. Skeletal muscles show the presence of nemaline bodies and have disorganized sarcomeric structures. Muscle atrophy is specific to the fast fibers
Male mice are sterile with complete azoospermia and reduced testis size, show impaired spermatogenesis, spermatocytes display meiotic arrest at around the zygotene to pachytene stage with incomplete homologous synapsis which is accompanied by defective DNA double-strand breaks repair (PubMed:31453335, PubMed:32374261, PubMed:32352380, PubMed:32744506). Fertility of females is normal up to mid-adulthood (5 to 6 months of age), at 3 and 6 months, ovaries exhibit healthy ovarian morphologies, however ovaries are devoid of follicles at around 8 months of age, and accordingly female mice become infertile (PubMed:31453335, PubMed:32744506). Female germ cells exhibit a successful but delayed meiosis prophase I progression (PubMed:31453335)
Albino seeds that germinate poorly and die soon after germination
Disruption of the metY gene is not enough to lead to methionine auxotrophy, but the metB-metY double mutant is unable to grow on a minimal medium lacking supplemental methionine (PubMed:11844756). Deletion of the gene results in methionine auxotrophy on methanethiol or dimethyldisulfide as sole sulfur source (PubMed:20798582)
Increased mortality induced by B.thuringiensis pore-forming toxins Cry21A and Cry21B (PubMed:20011506). Increased mortality and sensitivity to paralysis induced by enteropathogenic E.coli infection (PubMed:16091039). Increased mortality upon heat stress (PubMed:12686697). RNAi-mediated knockdown causes an enhanced resistance to polyglutamine or amyloid-beta-mediated paralysis and an increase in adult life span
High chlorophyll fluorescence and deficiency in the accumulation of the cytochrome b6f complex subunits. Dwarf due to very slow growth and pale green leaves
RNAi-mediated knockdown causes a growth arrest between gastrulation and the 2-fold stage and an increase in number of apoptotic cell corpses at the comma and 1.5-fold stages (PubMed:12527374, PubMed:16024786, PubMed:20226672). The few hermaphrodite animals reaching adulthood have gonadal defects characterized by the formation of a straight gonad resulting from defects in distal tip cells migration during the first and second turns (PubMed:16251208, PubMed:16024786)
Mutant mice are severely deaf, with preserved otoacoustic emissions. They have malformed cochleae with fasciculation defects in axons of spiral ganglion neurons. Type I neurons show impaired synapses with inner hair cells and type II neurons display aberrant projections through the cochlear sensory epithelium
Leads to the accumulation of erburicol
Death at birth due to severe motor deficits including respiratory failure
Mice lacking isoform 2 die within 2 weeks after birth
Lighter pigmentation of the body (PubMed:31118901). Females have higher levels of short chain short chain hydrocarbons (CHC) relative to long chain CHCs compared to wild type females (PubMed:31118901)
Conditional knockout (KO) in the forebrain neurons results in reduced complex I activity, altered brain energy metabolism, increased locomotor activity with impaired motor coordination, balance and stereotyped behavior, neuroinflammation in cortex and hippocampus, and neuronal death in hippocampus (PubMed:33148885). Conditional KO in skeletal muscle results in development of a progressive myopathy resulting in premature death, muscle degeneration accompanied by increased mitochondrial proliferation and serum lactic acidosis and a decrease in complex I activity, assembly and expression in muscle (PubMed:31916679)
Oogenesis defects similar to defects due to hyperactive Ras-MAPK signaling. Increased mRNA levels of several components of the MAPK-signaling pathway
RNAi-mediated knockdown is often lethal at the pupal stage, with flies displaying small black or brown spots prior to death. A small percentage of adults survive when grown at 23 degrees Celsius to preclude pupal lethality. These adult escapers (then kept at 29 degrees Celsius) do not display melanotic areas until several hours after eclosion. These melanotic regions or spots are predominately in air-exposed parts of the body, such as those close to the cuticle, and the thoracic and abdominal spiracles. In the tracheae melanization occurs only in the trunk closest to the spiracle. The ptilinal suture and the surrounding area between the eyes also display various amounts of melanization. Around half display reduced pigmentation of their abdomen, and this often occurred in adults that had large melanotic areas. After septic injury, flies display impaired melanization at the wound site, and in their hemolymph there is an overall reduction in the protein level of PPO1 and no significant activity of PO
Cells lacking this gene are unable to grow on dimethyl sulfide (DMS), dimethylsulfone (DMSO2) and diethyl sulphone (DESO2)
Increased sensitivity to salt stress
Cells have about 30% less PSII and a minor uncoupling of the antenna
Embryonic lethality shortly after implantation, due to trophoblast defects, absence of a functional placenta, failure of limb bud formation, plus defects in lung branching and heart development
Essential, it cannot be deleted unless the downstream gene for cognate toxin socB is also deleted. In depletion experiments the half-life of SocB is 19 minutes in the absence of SocA and about 2 minutes in its presence
Nearly complete perinatal lethality within minutes after birth, due to lung hypoplasia (PubMed:19686689). About 4% survive for more than 30 days (PubMed:19686689). Combined disruption of Wnt2 and Wnt2b leads to lung agenesis and loss of trachea development (PubMed:19686689). In contrast, development of liver, stomach, intestine, pancreas and kidneys appears grossly normal (PubMed:19686689)
Leads to deformed and non-melanized appressoria that are unable to penetrate plant surface due to the impaired cell wall integrity (PubMed:22321443). Shows abnormal hyphae as a result of altered chitin synthesis (PubMed:22321443). Leads to sensitivity to H(2)O(2) (PubMed:22321443)
Knockout cells show deficiencies in cell multiplication and ciliary functions. Mutants move with greatly reduced velocities, have disturbed waveform of beating cilia and have stiffer cilia (PubMed:25694453). Mutant cilia lack an adjacent portion of the radial spoke 3 stem region (PubMed:25694453)
Morpholino-mediated knockdown of the gene results in embryos with reduced body length, microcephaly, retrognathia and heart edema
Mice homozygous for a knockout allele exhibit abnormal mesoderm development, disorganized extraembryonic tissue, lack of amnion and chorion formation, decreased embryo size and lethality at around 7.5 dpc (PubMed:20436477). Conditional knockout in the liver decreases the sensitivity of mice to Fas-induced hepatocellular apoptosis and prevents the recruitment of tBID to liver mitochondria (PubMed:20436477). Conditional knockout in skeletal muscle results in increased mitochondrial mass and metabolism granting protection against diet-induced obesity (PubMed:26876167)
Homozygous knockout mice for Tmem70 are embryonically lethal at about 9.5 days post coitum and exhibit profound growth retardation (PubMed:28173120). Embryos exhibit delayed development of the cardiovascular system and a disturbed heart mitochondrial ultrastructure, with concentric or irregular cristae structures (PubMed:28173120)
No visible phenotype, but delayed leaf senescence (PubMed:16640597, PubMed:22184656). No visible phenotype under normal growth conditions, but mutant leaves show a stay-green phenotype and deficiency in chlorophyll degradation during extended darkness
The morphology of the retina is not affected when mice are kept in constant darkness. When mice are exposed to alternating 12 hour light and dark cycles, the rod photoreceptor outer segments are about 25% shorter than in wild-type, and the photoreceptor outer segments appear somewhat disordered (PubMed:9333241). After one year exposure to alternating 12 hour light and dark cycles, there are clear signs of photoreceptor degeneration with about 50% reduction in the number of photoreceptor nuclei in the outer layer of the retina (PubMed:16421323). Rod photoreceptor cells show normal flash sensitivity, but display prolonged RHO signaling, due to a strongly decreased rate of deactivation (PubMed:9333241, PubMed:16421323)
Mutants are viable but display reduced brood size and enlarged lysosomes (PubMed:21613545). Egg-laying defect, slow, but coordinated locomotion, and reduced levels of unprocessed and processed cargo in the motor neuron axon of the dorsal nerve cord (PubMed:27191843)
Slight increase in the length of hypocotyls, cotyledons and primary leaves
In the embryo trachea, dorsal trunk airways are tortuous (PubMed:20935638). Failure to secrete verm/vermiform into the growing tracheal tubes, diffused luminal chitin and tube overelongation (PubMed:20935638). Septate junction permeability is impaired, septate junctions proteins Nrx-IV/Nrx and Cora are abnormally spread basolaterally and strong reduction in paracellular septa (PubMed:20935638). Adherens junctions are normal (PubMed:20935638). Levels of ferritins Fer1 and Fer2 are normal (PubMed:20935638)
Leads to small cell wall defects but displays a severe attenuation of virulence in a murine infection model
Reduced Rab3 and Madd levels in distal axons of hippocampal neurons
Leads to the accumulation of the unprenylated derivatives violaceoid C and violaceoid A
RNAi-mediated knockdown at the L4 larval stage results in less than 10% embryonic lethality in offspring and surviving adults are sterile (PubMed:30336114). Double RNAi-mediated knockdown with hmg-4 at the L4 larval stage results in 60% embryonic lethality in offspring (PubMed:30336114). Double RNAi-mediated knockdown with hmg-4 in embryos results in defective cell cycle initiation, duration and completion and in failed development of the anterior pharynx (PubMed:30336114)
Lacks 2-isopropylmalate synthase activity, no longer grows in the absence of leucine, increased lysine formation when the appropriate leucine concentration is supplied
No production of msDNA. No other visible effect on growth, morphogenesis, fruiting body formation, spore germination or cell motility
ABCG36/PEN3 retention and accumulation in the endoplasmic reticulum associated with an increased sensitivity to the root-penetrating pathogenic fungus Fusarium oxysporum
Viable. Fertility is significantly reduced
Mutant is unable to grow on aspartate but can grow on other carbon and nitrogen sources. Mutant is unable to fix nitrogen within nodules formed on alfalfa
Leads to respiratory growth defect and increases frequency of mitochondrial genome loss
Cells lacking this gene accumulate protomycinolide IV and mycinamicin VIII
Early flowering and senescence, as well as reduced shoot biomass. Short primary root with reduced lateral root formation and short root hairs. Enhanced sensitivity to the fungal nectroph, Botrytis cinerea and to the virulent bacterial pathogen Pseudomonas syringae pv. tomato, but normal resistance to an avirulent P.syringae strain
RNAi-mediated knockdown in larvae does not result in any obvious developmental defects and animals are able to reach the adult gravid stage and lay eggs (PubMed:24836561). However, 80% of the eggs laid fail to hatch, and the animals that hatch do not survive beyond the L1 larval stage (PubMed:24836561). RNAi-mediated knockdown in larvae results in the heme accumulation in the intestine under low heme conditions (PubMed:28581477). RNAi-mediated knockdown in larvae results in an accumulation of vitamin B12 in the intestine and defective vitamin B12 transport from mother to dead embryos (PubMed:29562169). Furthermore, embryos of RNAi-treated mothers also have defects in vitamin B12 metabolism and have reduced levels of methionine and S-adenosylmethionine (PubMed:29562169). Double RNAi-mediated knockdown with hrg-7 in larvae results in defective heme sensing (PubMed:28581477)
Prenatal lethality, probably caused by severe liver hypoplasia (PubMed:30635284). 16.5 dpc mutant embryos also show defects in definitive erythropoiesis (PubMed:30635284). Conditional knockout mice lacking Cdk5rap3 in hepatocytes causes lethality after weaning -specific Cdk5rap3 display liver hypoplasia and die after weaning (PubMed:30635284)
Embryos arrest development shortly after the midblastula transition. During cleavage (2-, 64-, and 1,000-cell-stage embryos) all blastomeres of mutant embryos contain morphologically abnormal nuclei that appeared fragmented in formation of multiple micronuclei
Deletion mutant mice display increased susceptibility to Staphylococcus aureus pulmonary infection
RNAi-mediated knockdown results in impaired inhibition of oocyte maturation and ovulation in the presence of reduced numbers of self-derived sperm (PubMed:12533508). As a result, hermaphrodites lay increased numbers of unfertilized oocytes (PubMed:12533508). Reduced sheath cell contraction rate in somatic cells (PubMed:12533508)
Animals deficient for isoforms 1-7 exhibit self-injourious repetitive grooming and deficits in social interaction. They show defects at striatal synapses and cortico-striatal circuits with an increase in striatal volume, dendritic length, and surface area and a decrease of spine density, length and thickness of PSD. They seem to have an altered molecular composition of postsynaptic machinery in the striatum (PubMed:21423165). In contrast, animals deficient for isoforms 1 and 2 exhibit a normal initiation of social interaction with a perturbed recognition of social novelty (PubMed:21423165). In PubMed:21558424, animals deficient for isoforms 1 and 2 show abnormal social behaviors, communication patterns, repetitive behaviors, learning and memory. In CA1 hippocampus, the synaptic plasticity is impaired with longer dendritic spines, decreased spine density and deficient long-term potentiation. The expression of specific synaptic scaffolding proteins and receptor subunits are altered. Animals deficient for isoforms 1-5 exhibit self-injourious repetitive grooming, brain-region-specific up-regulation of ionotropic glutamate receptors and increased levels of SHANK2 (PubMed:22699619). Animals deficient for predominant isoforms containing exon 21 exhibit motor-coordination deficits, hypersensitivity to heat, novelty avoidance, altered locomotor response to novelty and minimal social abnormalities. They show a decrease in NMDA-AMPA excitatory postsynaptic current ratio in hippocampal CA1, reduced long-term potentiation and deficits in hippocampus-dependent spatial learning and memory (PubMed:24259569)
Rod or cone-specific conditional knockout of Elovl4 results in a decrease in very long chain (C30-C34) polyunsaturated fatty acids in the retina, but has no effect on photoreceptors survival, phototransduction, synaptic transmission or visual behavior
Defects in efflux of the auxin precursor indole-3-butyric acid (IBA) associated with developmental defects such as abnormally long root hairs and increased lateral root production (PubMed:20498067). Strongly reduced coumarin (e.g. highly oxygenated compounds scopoletin, dihydroxyscopoletin, esculetin, fraxin, fraxetin and esculin) exudation in the rhizosphere, especially in iron (Fe) deficient conditions (PubMed:28623273, PubMed:24015802). Hypersensitivity to iron (Fe) deficiency (PubMed:24015802). Increased sensitivity to the auxinic herbicides 2,4-dichlorophenoxyacetic acid (2,4-D), 4-(2,4-dichlorophenoxy)butyric acid (2,4-DB) and 2-naphthoxyacetic acid (2-NOA), but normal responses to the endogenous auxins indole-3-acetic acid (IAA), phenylacetic acid (PAA) and indole-butyric acid (IBA) (PubMed:16877699, PubMed:20498067). Hypersensitivity to polar auxin transport inhibitors including napthylphthalamic acid (NPA), 1-naphthoxyacetic acid (1-NOA), 2-(1-pyrenoyl)benzoic acid (PBA) and 2,3,5-triiodobenzoic acid (TIBA) (PubMed:16877699, PubMed:20498067)
No visible phenotype; flies are viable and fertile with no obvious developmental abnormalities
Decrease of translation termination efficacy and an increase in mRNAs half-lives and longer mRNA poly(A) tails
When starved, cells fail to turn off expression of the growth-phase gene cprD and to turn on expression of the adenylyl cyclase gene, resulting in an undetectable level of cAMP and a strong reduction of the cAMP-relay response. They join streams of aggregating cells but with less efficiency than wild-type cells and show a dramatically reduced rate of sporulation. In the migratory slug, they are almost exclusively located in the posterior region and many cells are found in the slime trail that is left behind the slug. When the fruiting body is formed, most cells are found in the basal disks while a minor part is located in the mature spores and stalks. Starved mutant cells are elongated laterally and form one large laemllipodium along the front side arc of the cell. They have a keratocyte-like behavior, moving persistently without changing directions over long distances
Sensitive to radiation, filamentous growth after transient inhibition of DNA synthesis, little effect on conjugal recombination in wild-type strains (PubMed:6374379). Increased sensitivity to mitomycin and UV light (PubMed:2693946, PubMed:2164626). Suppresses lethality in recB-recC and dnaB temperature-sensitive mutants (PubMed:9814711)
Does not produce lolitrem B and terpendole C, but accumulates lolitrem E and two other paspalanes, IDT522 and IDT538 (PubMed:22750140)
RNAi-mediated knockdown prevents the release of sld-5 and psf-1 from chromatin prior to prophase in early embryos
64% of embryos arrest in between late gastrulation and epidermal morphogenesis with failures in embryogenesis occurring during late gastrulation, epidermal enclosure and elongation. RNAi-mediated knockdown results in arrest in 29% of embryos which display a range of embryonic abnormalities including increased bulge formation (humpback phenotype), epidermal enclosure defects where the ventral cleft fails to close during embryogenesis, impeded or inhibited ventral neuroblast cell migration and irregular cell shape and positioning. Knockdown also results in failure of the catenin-cadherin complex, specifically the cadherin protein, hmr-1 to localize to adherens junctions, but to accumulate along the basolateral membrane of the cell
Bip1 and bip2 double mutation affects the fusion of polar nuclei during female gametophyte development (PubMed:20080634). Bip1 and bip2 double mutation affects pollen tube growth and length (PubMed:24486762). Bip1, bip2 and bip3 triple mutation is pollen lethal (PubMed:24486762). Bip1, bip2 and bip3 triple mutation affects female gametophyte development during the early stages (PubMed:26186593)
In cv. Columbia, altered ratio of endogenous nitrile to isothiocyanate hydrolysis products
Mice are viable and fertile but display a loss of coordination of limb movement which phenocopies the one of Epha4 mutant mice
RNAi-mediated knockdown in the adult wing results in the development of wing margin bristles (PubMed:26169834). RNAi-mediated knockdown in the posterior compartment of the wing reduces accumulation of arm, resulting in reduced expression of sens and wg (PubMed:26169834). RNAi-mediated knockdown in larval wing or eye imaginal disks results in decreased rl protein levels (PubMed:27552662)
Altered structural conformation of the ribosome in close proximity to cytosine 2278 (m5C2278) in 25S rRNA, leading to impaired translational fidelity, and promote recruitment of a distinct subset of oxidative stress-responsive mRNAs into polysomes
Knockout mice show a decrease in miniature inhibitory postsynaptic currents frequency, but not amplitude, in CA1 pyramidal neurons (PubMed:31601770). Mice show impaired acquisition of contextual fear memory without affecting auditory fear learning or anxiety (PubMed:29199957). Decreased long-term potentiation of hippocampal glutamatergic synapses (PubMed:29199957)
Worms have strong elongation defects (PubMed:9531567). RNAi-mediated knockdown results in failure of cadherin protein hmr-1 to localize to adherens junctions, but results in its accumulation along the basolateral membrane of the cell (PubMed:26412237)
Cells lacking this gene are unable to produce rapamycin
Homozygous knockout mice display no overt phenotype (PubMed:29401619). Reduced levels of sphingosine, dihydrosphingosine, sphingosine-1-phosphate and dihydrosphingosine -1-phosphate are observed in plasma, erythrocytes and platelets (PubMed:29401619)
Double-knockout with abo1 exacerbates the sensitivity of the abo1-knockout to methyl methanesulfonate (DNA damaging agent)
Mice are viable and fertile, but show a decreased mass of skeletal muscle and adipose tissue. They have exocrine pancreatic insufficiency with impaired stimulus-secretion coupling and increased susceptibiliy to pancreatic injury. UBR1 and UBR2 double knockout embryos die at midgestation, with defects in neurogenesis and cardiovascular development. These defects included reduced proliferation as well as precocious migration and differentiation of neural progenitor cells
Deletion mutant shows a significant growth defect in medium that contains only free amino acids as a source of amino acids. Mutant shows a strong decrease in L-serine uptake and cannot transport L-threonine. Can still transport L-alanine. SerP1/serP2 double mutant is completely devoid of uptake activity of either L-serine, L-threonine or L-alanine
Slower germination and root growth, delayed growth and flowering
Mice do not thrive after weaning when kept on a vitamin C-less diet. They develop scurvy, have reduced bone mineral density and brittle bones. Hepatocytes exhibit accumulation of lipid droplets. Mice display increased mortality after about 3 months, and their life span is shorter than normal
Reduced heat-induced fold reduction of mRNAs and impaired attachment of XNR4 to polysomes
Plants display reduced cellulose synthesis affecting microtubule orientation, general cell size, hypocotyl growth and seeds production. Partially redundant with CESA6
RNAi-mediated knockdown suppresses the growth delay and elevated body fat index of the TOR complex 2 mutant rict-1 (PubMed:23884442). Results in disruption of the invariant transdifferentiation of the Y rectal cell to the PDA motor neuron (PubMed:25124442)
Cells lacking this gene display a high decrease in the level of ct(6)A modification in tRNAs, and show the t(6)A modification instead. They also show no defects in motility, fitness or antibiotic sensitivity, in contrast to csdA mutants
RNAi-mediated knockdown causes sterility characterized by a lack of oocytes. In a ksr-1 n2526 mutant background, causes larval lethality
Cells lacking this gene still synthesize lipomannan (LM) and lipoarabinomannan (LAM)
Embryonic lethal whereby embryos arrest at the three-fold stage of embryogenesis. Embryos initially develop normally until the late comma stage where a delay in the elongation process culminates in severe morphological defects. RNAi-mediated knockdown results in 98% egg-laying defective mutants with muscles lacking the egg-laying muscle specific protein egl-15. In addition, mutants also exhibit a multiple vulvae phenotype with animals having two or three vulvae. Double knockdown with let-381, sys-1, hlh-1 or fozi-1 results in no sex myoblast production
No visible phenotype under normal growth conditions, but roots of mutant plants are impaired in the interaction with both rhizobia and the arbuscular mycorrhiza (AM) fungus Glomus intraradices. Stunted growth when grown in nitrogen-limiting conditions and in presence of Sinorhizobium meliloti
Sterility. Chromosome paring defects during meiosis
Aolishes the production of ergovaline and its stereoisomer ergovalinine but accumulates lysergic acid and its C-8 stereoisomer (PubMed:17308187)
In stems, defect in cell elongation resulting in dwarf and bushy plants with altered mechanical properties, as well as little to no secondary cell walls in fibers, including xylary and interfascicular fibers; these symptoms are partly reversed by continuous light conditions. At the flowering stage, red, dry and bent downwards stem apices. General repression of indole metabolism, including tryptophan, neoglucobrassicin and auxin (indole-3-acetic acid). Broad-spectrum resistance to vascular pathogens, including the bacteria Ralstonia solanacearum and Xanthomonas campestris pv. campestris, and the fungi Verticillium dahliae and Verticillium albo-atrum in a salicylic-acid- (SA-) dependent manner. SA accumulation in roots
Slow growth and bleached leaf phenotype when grown under ambient air, but normal growth under CO(2)-enriched air (PubMed:17616510, PubMed:28202596). Thicker leaves due to enlarged mesophyll cells when grown in ambient air and associated with altered thylakoid membrane assembly and starch granule ultrastructure; these phenotypes are partly reversed when grown in 1 percent CO(2) atmosphere (PubMed:28202596). Highly prevents lipoylation of the H-protein subunit of the glycine decarboxylase (GDC) in leaves, but has only a limited effect on the lipoylation of the E2 subunits of pyruvate dehydrogenase (PDH) and alpha-ketoacid dehydrogenase (KGDH) complexes in leaves and even no effect in roots (PubMed:17616510, PubMed:28202596). Depleted 3-hydroxytetradecanoic acid levels (PubMed:28202596)
Mice are healthy at birth, but develop neuronal abnormalities, infiltration of bone marrow by macrophages and multinucleated giant cells, and splenomegaly caused by extramedullary hematopoiesis. Autofluorescent storage material is present in many cell types, particularly reticuloendothelial cells and neurons
RNAi-mediated knockdown in adults has no effect on their F1 progeny, but increases the frequency of posterior morphological abnormalities on a homeobox nob-1 mutant background (PubMed:10781051). However, RNAi-mediated knockdown in L1 larvae causes defects in tail tip morphogenesis, which are exacerbated on a nob-1 mutant background (PubMed:21408209)
Leads to elevated expression of BEA1, BEA2 and BEA3 (PubMed:27750383)
Gametophyte lethality
Deletion mice have an enhanced response to agricultural dust as evidenced by an exacerbated increase in infiltrating immune cells and lung pathology as compared to wild-type controls (PubMed:35525330). In addition, T-gondii-infected mice display a significant defect of the epithelial barrier and an increase in macromolecular permeability when compared to wild-type mice (PubMed:33912578)
Leads to methionine and adenine auxotrophy
Increased length of hypocotyls under dark-grown conditions. Altered actin arrays in hypocotyl cells. Enhanced freezing tolerance associated with enhanced cold induction of cold-responsive C-repeat-binding factor (CBF) target genes in the double mutant lacking both GRF6 and GRF8, probably due to the suppression of ubiquitin-mediated degradation DREB1A and DREB1B degradation by the 26S proteasome pathway (PubMed:28344081, PubMed:31297122). Increased sensitivity to cold in plants lacking both B1L and GRF6 (PubMed:31297122). But enhanced freezing tolerance in the triple mutant lacking B1L, GRF6 and GRF8 (PubMed:31297122)
Mice are viable through adulthood. In their spleen the level of chondroitin 6'-sulfate is almost undetectable. In the spleen of 5-6 week-old mice, the number of CD62L(+)CD44(low) T-lymphocytes corresponding to naive T-lymphocytes is significantly decreased, whereas those in other secondary lymphoid organs are unchanged
Loss of expression of OmpC and OmpF under low and high osmolarity. No longer agglutinates with Vi antiserum, agglutinates with 09 antiserum without boiling, indicating the Vi polysaccharide is not masking the lipopolysaccharide antigen
Shorter hypocotyls and abnormal roots architecture; more auxin-induced lateral roots. Enhanced susceptibility to necrotrophic and vascular pathogenic fungi, such as Alternaria brassicicola, Plectosphaerella cucumerina and Fusarium oxysporum associated with a disturbed expression of genes involved in cell wall metabolism. Longer and wider primary roots with faster growth. Severely compromised root waving and abnormal root skewing response. Hypersensitivity to ethylene (ACC)
Increased in resistance against glycopeptide antibiotics, especially teicoplanin. The resistance phenotype is lowered by several folds in strains carrying mutations in the rsbU gene which codes for a positive regulator of sigma-B
Defective in chemotactic responses to attractants and repellents and in osmotic and mechanosensory avoidance
Decreases electron flow through the mitochondrial respiratory chain complex III (PubMed:32518190). Increases level of depolarized mitochondria (PubMed:32518190). Abnormal cell wall structure resulting in abnormal capsule attachment (PubMed:32518190). Sensitive to iron starvation (PubMed:32518190). Abolishes cell population growth on non-fermentable carbon sources (glycerol, lactate, and succinate) (PubMed:32518190). Decreases cell population growth (PubMed:32518190). Decreases virulence in a mouse intranasal model of infection (PubMed:32518190)
Morpholino knockdown results in seizure-like behavior and decreases locomotor function (PubMed:27545681)
Disrupted chloroplast ultrastructure
Morpholino knockdown of the protein impairs normal embryonic development of intersegmental vessels (ISV) (PubMed:21520329, PubMed:27484901). Morpholino knockdown of the protein causes malformation of the glomerular tufts and a reduction in the number of podocytes per glomerular tuft, and causes pericardial edema in many cases, probably due to impaired function of the glomerular filtration barrier (PubMed:28814510). Morpholino knockdown of the protein causes loss of the parachordal chain in the developing vasculature and absence of laterally projecting motor axons at the level of the horizontal myoseptum (PubMed:27484901)
Absolutely required for BMC formation; when deleted from an artificial operon (Hoch_5815, Hoch_5812, Hoch_3341, Hoch_5816, Hoch_4425, Hoch_4426, Hoch_5814) being expressed in E.coli, no BMC shells are made
No longer acetylates bL12
Pronounced larval developmental delay and death at the pupal stage with delayed and reduced ecdysone-induced transcription, developmental of melanotic nodules and up-regulation of stress-induced genes (PubMed:21288872). RNAi-mediated knockdown results in lethality at the late pupal stage (PubMed:20626565). RNAi-mediated knockdown in the central nervous system results in a hyperactive phenotype, sleep loss in adult females, a significant expansion in synaptic bouton number in the larval neuromuscular junction (NMJ), increased larval NMJ axonal length and branching, and misregulation of genes known to be involved in these processes with a marked increase in Hsc70-3 and Syb mRNA levels and a marked decrease in qvr/sss mRNA levels (PubMed:20626565). RNAi-mediated knockdown in hemocytes results in reduced hemocyte numbers and hemocyte aggregation (PubMed:21288872)
Mutant mice had significantly lower embryo implantation rate associated with lower litter size (PubMed:28974690). On a standard diet, they developed symptoms of the glucose and galactose malabsorption and died within 2 days after weaning, a phenotype reminiscent of GGM syndrome in humans (PubMed:22124465). Weaned mice survived and were fertile when maintained on a glucose and galactose free diet (PubMed:22124465)
Deletion mutants display a reduced cytotoxicity toward macrophages
Impairs the repression of siderophore biosynthesis and utilization genes in the presence of abundant iron and thus produces siderophores even under iron-replete conditions (PubMed:23980626)
RNAi-mediated knockdown causes no obvious effect on embryonic development (PubMed:12527374). Animals have a slight decrease in unc-5 tyrosine phosphorylation (PubMed:16024786)
Infertile male mice with oligospermia and globozoospermia
Leads to reduced virulence on etiolated soybean hypocotyls
Increases efficiency of DNA conjugation when disrupted in donor strain (PubMed:15314236)
Not required for induction of, or recovery from, contact-dependent growth inhibition (CDI)
RNAi-mediated knockdown in a gap-1 mutant background causes a hyperinduction of the vulva in 60 percent of animals (PubMed:10949028). In addition, suppresses the slow germline development of clk-1 mutants (PubMed:14657502)
Defective embryo arrested at cotyledon stage (PubMed:15266054, PubMed:29463724). Heterozygous mutants produce some yellowish seeds with developmentally retarded or abnormally shaped embryos. Conditional dexamethasone (DEX)-inducible mutants exhibit altered vacuolar morphology showing fragmented round vacuoles (PubMed:29463724)
Impairs the production of SQS1 and accumulates a compound corresponding to the squalestatin core and in which the tetraketide sidechain is missing
MYO3A single knockout mice do not exhibit early hearing impairment whereas mice with a double knockout of MYO3A and MYO3B are profoundly deaf at 1 month of age. Cochlear hair bundles have abnormally long stereocilia and show dynamic shape defects during development
No effect on phosphonate metabolism in B strains
When both HMG1 and HMG2 are deleted, cells are unable to undergo spore germination and vegetative growth
Mice appear grossly normal, but females are anestrous and infertile with an uterus weight that is roughly 30% of that of wild-type. Ovaries contain normal numbers of follicles, but lack corpora lutea. Serum progesterone levels are strongly reduced; estradiol levels are normal. The level of luteinizing hormone (LHB) in the pituitary is strongly reduced in males and not detectable in females (PubMed:8703054). Responses to ischemia and hypoxia are blunted, leading to reduced tissue damage in response to ischemia and increased survival (PubMed:11100120). Liver regeneration is impaired after partial hepatectomy, due to impaired mitotic progress and reduced proliferation of hepatocytes (PubMed:15265859). Untreated mutant mice do not display an increased tendency to develop tumors, but develop tumors earlier than wild-type when treated first with a tumor initiator, and then with a tumor promoter (PubMed:15958557). Mice lack daily rhythmicity in the expression of the core-clock gene BMAL1 and display a reduced and altered locomotor activity and altered temperature regulation (PubMed:29138967)
Mice were born at the normal Mendelian ratio without obvious anatomical defects but display impaired innate immunity (PubMed:16862125, PubMed:17187069). In response to C.albicans infection, mice develop fungal infections, many of which target the central nervous system (CNS) (PubMed:26679537). All mice die within 5 days after infection by C.albicans whereas more than half of the control mice survive for more than 12 days (PubMed:16862125). Impaired zymosan-induced cytokine production (PubMed:16862125). No defects in adaptive immunity (PubMed:16862125). Mice show impaired recruitment of neutrophils in CNS after infection by C.albicans, an immune cell critical for antifungal host defense (PubMed:26679537). Mice are susceptible to pulmonary infection with C.neoformans and show decreased Th17-related immune response (PubMed:24470469). Mice are highly susceptible to phaeohyphomycosis following E.spinifera infection and show impaired antifungal immunity, characterized by reduced cytokine production and neutrophil recruitment (PubMed:29080677). Mice are susceptible to A.fumigatus and P.pneumonia infection (PubMed:25621893, PubMed:32548948). Mice are more susceptible to colitis and have an increased load of gut-resident fungi (mycobiota), causing gut fungal dysbiosis (PubMed:23732773, PubMed:27158904). Mice are unable to induce an efficient IgG antibody response against disseminated C.albicans infection (PubMed:33548172). Following infection by L.monocytogenes, mice fail to clear infection and show altered cytokine production (PubMed:17187069)
Worms are viable and fertile but display molting defect. Longitudinal ridges termed alae, which are cuticular structures secreted by lateral hypodermal seam cells, are poorly distinct or interrupted. Died as a 'bag of worms' after degeneration of the proximal gonad, or alternatively, as a result of a burst vulva
Loss of fimbriae on the cell surface, loss of adherence to saliva-coated hydroxyapatite beads (SAH), an in vitro tooth model
Impaired transmembrane tail-anchored protein localization, characterized by mislocalization of PEX15 to the mitochondrion outer membrane
Mutant males are sterile (PubMed:34714330). Spermatozoa from mutant mice showed abnormal head shapes with an abnormal swollen acrosome morphology and impaired acrosome reaction (PubMed:34714330)
Reduced sensitivity to abscisic acid (ABA) leading to impaired ABA-mediated reduction of seed germination (PubMed:26474641). Abrogated induction of DHU1 in response to UV-B (PubMed:28735869). The double mutant shw1 hy5 has altered root growth, hypocotyl length and hook angle similar to the single mutant shw1 in the darkness and far red light (FR), but shorter hypocotyl in WL, red light (RL) and blue light (BL) (PubMed:26474641). In addition, shw1 hy5 is recued for gravitropic root growth defect observed in hy5 single mutant (PubMed:26474641). The double mutant dhu1-1 hy5-215 phenotype resemble that of the single mutant hy5-215 (PubMed:28735869)
Cells lacking this gene have an increased sensitivity to DNA damaging agents, 100-fold decreased plasmid transformation and 4-fold reduced chromosomal DNA transformation. Sensitivity increases in the presence of mutated AddAB nuclease
Highly sensible to fluoride. Growth is inhibited at more than a 300-fold lower fluoride concentration than in the wild-type. Has increased intracellular fluoride concentrations
Embryonic lethality prior to 6.5 dpc with death of inner mass cells. Embryos implant but die shortly after
Mutants are 97% viable. However, the Rho GTPase-activating protein, pac-1, does not localize to adherens junctions
Brains from knockout mice show neurons in layer II-III with a significant decrease in the dendritic length and the number of branches, as well as a severe reduction of dendritic spines density
Mice exhibit early embryonic lethality between 9.5 and 11.5 dpc (PubMed:16022389). Mice show retarded development of embryonic ectoderm at 6.5 dpc and growth retardation beginning at 7.5 dpc (PubMed:16022389)
Inactivation of the gene leads to a significant growth defect on D-lysine and a relatively minor growth defect on L-lysine (PubMed:31064836). Deletion mutant shows an increased concentration of intracellular 2-aminoadipate (PubMed:31064836)
Has 2 short flagella probably composed of flagellin B (flaB)
Morpholino knockdown of the protein results in increased incidence of agomphosis (absence of teeth)
Embryonic lethality in the first cell divisions
Plants are indistinguishable from that of wild-type at 16 degrees Celsius, however they generate a weak phenotype of pointed leaves at 22 degrees Celsius which become narrower at 26 degrees Celsius. In the leaves of plants grown at 26 degrees Celsius, the xylems are located on the adaxial sides and the phloems are on the abaxial sides, similar to those in the wild-type. Plants with double mutations in this protein and in RH10 or AS1 protein have abaxialized filamentous and trumpet-like leaves with loss of the adaxial domain at high temperatures. In double mutants, shapes of epidermal cells of the filamentous leaves are simple and rectangular, similar to those of a petiole, but different from those of flat leaves of wild-type plants. The filamentous leaves of the double mutant at 26 degrees Celsius show primitive or no vascular tissue without apparent xylem cells inside the bundle sheath, suggesting defects in differentiation of xylem cells on the adaxial side
Mice show abnormal diurnal rhythms of activity, body temperature and metabolic rate
Shows no aggregation
Reduced seed dormancy and increased germination rate of freshly harvested seeds (PubMed:19150360, PubMed:21799800). Early flowering (PubMed:19150360)
No decrease in oil content
No visible phenotype during recovery from stationary phase or sporulation efficiency
Mutants show increased autolysis, reduced levels of surface-assembled type IV pili, twitching motility and diminished production of type III secreted effector
Impairs the elongation of beta-mannose chains on the acid-labile fraction of cell wall phosphopeptidomannan
Suppresses the lethality of LCD1 and RAD53 mutations. Leads to resistance to the chemicals that inhibit nucleotide metabolism and increases dNTP levels in the presence of hydroxyurea
Cells lacking this gene require arginine and lysine for growth
Cells do not produce hydrogenase or urease; addition of Ni(2+) to cell cultures compensates only poorly for this loss of function. Normal amounts of apourease are produced by the cells
Constitutive RPW8-mediated HR-like cell death characterized by salicylic acid (SA) accumulation, enhanced transcription of RPW8 and RPW8-dependent spontaneous HR-like cell death (SHL) in leaf tissues. Reduced plant stature. Sphingolipid (e.g. ceramides and hydroxyceramides) accumulation associated with a reduced inositol-phosphorylceramide synthase (IPCS) activity
Leads to a swollen morphology and a cytokinesis defect preceding lysis of cells (PubMed:20070524)
Deletion increases biofilm formation
Increases frequency of mitochondrial genome loss and leads to altered mitochondrial morphology. Moderately reduces mitochondrial membrane potential and import efficiency of preproteins that are transported into or across the inner membrane via TIM23 complex. Impairs precursor protein import via the MIA pathway. 60-70% of mitochondria exhibit an increased inner membrane surface and stacks of lamellar cristae disconnected from the inner boundary membrane
Grows slightly more slowly; 30% reduction in staphylolytic activity, increased production of lectin PA-IL, blue-green pigment pyocyanine and HCN (PubMed:11673439). Increases levels of autoinducers 3-oxo-C12-HSL (3-oxo-N-(tetrahydro-2-oxo-3-furanyl)-dodecanamide) and C4-HSL (N-butanoylhomoserine lactone) in early log phase which becomes nearly wild-type (3-oxo-C12-HSL) or 2-fold greater (C4-HSL) by late log phase (PubMed:11673439). Loss of swarming mobility and rhamnolipid production, loss of sRNA RsmZ expression, decreased lipase, increases synthesis of pyocyanine and HCN (PubMed:15126453). Loss of swarming mobility, overproduction of pyocyanine, reduction in lipase biosynthesis (PubMed:16359708)
Mice fail to avoid cycloheximide at low concentrations and show a lack of cycloheximide-induced action potentials in a principal nerve innervating taste receptor cells of the tongue
Lack of this gene leads to loss of visible red pigments in pericarp of the seeds, glumes and mature leaves, all of which are white as a result (Ref.4, PubMed:20083611, PubMed:30911880). Leads to loss of flavan-4-ols production in developing seeds and loss of 3-deoxyanthocyanidins (3-DAs) in seeds at 24 days after anthesis (daa) (Ref.4). A variegated pigmentation phenotype in seed pericarp and leaves is produced by an insertion of a transposon called candystripe1 (cs1) into this gene. Spontaneous excision of the transposon restores normal function of this gene (PubMed:10611384, Ref.4, PubMed:16429259, Ref.3, PubMed:20083611). Cs1 causes variability in pigmentation of the mesocotyls in repsonse to C.heterostrophus, although this fungus is not pathogenic to sorghum (Ref.3). Plants display severe symptoms typical of anthracnose disease after being infected with the pathogenic C.sublineolum fungus. Pigmented lesions appear 4 days post inoculation (dpi) of the fungus at the sites of primary infection. The lesions progress and eventually coalesce leading to necrosis of the infected leaves. Acervuli appear in the lesions at this stage (PubMed:20083611)
Cells lacking this gene lose the ability to grow on C1 (methanol and methylamine) and C2 (ethanol and ethylamine) compounds, and also on beta-hydroxybutyrate, but they grow normally on pyruvate. Growth on C1 and C2 compounds is restored by addition of glyoxylate or glycolate, indicating that these mutants are unable to convert acetyl-CoA into glyoxylate
Impairs the production of discoidol and discodiene, and leads to delayed multicellular development
Increased sensitivity to cumene hydroperoxide but not H(2)O(2) (PubMed:10400584). Increased sensitivity to the oxidant diamide (PubMed:14617153)
Mice exhibit nude skin phenotype and acute thymic atrophy with a severe early block in thymic epithelial cells (TECs) differentiation. A more severe deterioration seen in medullary thymic epithelial cells (mTECs) than in cortical thymic epithelial cells (cTECs)
Mice survive to birth; however, most of them die before weaning. Axial skeletal alterations that are characteristic of posterior transformations are observed: ectopic ribs that associate with the seventh cervical vertebra (C7) are frequently observed. Consistent with this malformation, sternums are shifted anteriorly. The odontoid process, which is normally a characteristic of the second cervical vertebra (C2), is frequently associated with the first cervical vertebra (C1)
Conditional knockout mice show defects in phosphatidylserine exposure following apoptosis, leading to defects in engulfment of apoptotic cells (PubMed:23845944, PubMed:29440417). Mice on the MRL background develop a lupus-like autoimmune disease caused by impaired clearance of apoptotic lymphocytes and aged neutrophils (PubMed:29440417). Male mice are infertile due to reduced sperm counts in their epididymides: defects are caused by inefficient clearance of apoptotic germ cells by Sertoli cells in testes (PubMed:31712393)
Weak growth, small inflorescences and rosettes, slender stems, and short and retarded primary root growth leading to dwarf plants (PubMed:24513716, PubMed:24778257, PubMed:28398838). Impaired translocation of trans-zeatin (tZ)-type cytokinins (CK) from roots to shoots (acropetal), thereby affecting the plant growth and development and leading to a reduced cytokinin content in xylem sap (PubMed:24513716, PubMed:24778257). Defective in sterol (e.g. 24-methylene cholesterol and sitosterol) composition (PubMed:24112720). Vascular patterning defects in cotyledons and the floral stem, with a stronger phenotype in plant missing also ABCG9 and ABCG11 (PubMed:24112720). Altered responses to oxidative stress (e.g. hydrogen peroxide H(2)O(2)) (PubMed:27550996). Suppression of the SNC1-mediated defense response due to a deficiency of tZ-type CK in the shoot (PubMed:28398838)
Defective hindbrain central artery development due to impaired migration and proliferation of central artery cells (PubMed:29757409). Activation of the MAPK and PI3K/AKT pathways is inhibited (PubMed:29757409). Hindbrain arterial and venous network identities are not affected and there is no effect on the Notch or VEGF pathways (PubMed:29757409). Decreased courtship behaviors and reduced spawning success (PubMed:32467166). Reduced levels of gnrh3 in the hypothalamus and telencephalon and reduced levels of oxt and avp in the telencephalon (PubMed:32467166). Reduced levels of lhb, cga, fshb and gnrhr2 in the pituitary (PubMed:32467166). Simultaneous knockout of Scg2a and Scg2b results in greatly reduced ovulation in females (PubMed:32467166). Morpholino knockdown results in defective central artery development (PubMed:29757409)
The PA1225 gene, encoding a quinone oxidoreductase, is the most highly up-regulated gene in cells lacking NmoR
Simultaneous knockout of ubp15 abolishes cleavage of the sde2 propeptide (PubMed:28947618). Simultaneous knockout of ubp15 leads to abnormal splicing of introns featuring long spacing between the branchpoint and 3'-splice site (PubMed:36095128, PubMed:28947618). Simultaneous knockout of ubp15 leads to a growth defect and thermal stress sensitivity (PubMed:28947618)
RNAi-mediated knockdown in the prothoracic gland (PG) delays the onset of pupariation by prolonging the L3 larval stage. In addition, pupal size and, to a lesser extent, PG cell size are increased
Mice show diminished behavioral and nerve responses to bitter, sweet and umami tastes
Deletion affects cell size and cell wall composition, increases survival during persistent infection in mice, and increases resistance to acidic pH, hypoxia, oxidative and stationary-phase stresses in vitro
Knockout mice do not show morphological defects
No visible phenotype under normal growth conditions, but roots of mutant plants are impaired in the interaction with both rhizobia and the arbuscular mycorrhiza (AM) fungus Glomus intraradices (PubMed:19074278, PubMed:27020747). Stunted growth when grown in nitrogen-limiting conditions and in presence of Mesorhizobium loti (PubMed:19074278)
Defects in the cell polarization of neuroblasts Q cells
Cells are hypersensitive to immunosuppressant drugs FK506 and cyclosporin A (CsA) due to the inhibition of calcineurin phosphatase activity by the receptor-drug complexes and is dependent on calcineurin for vegetative growth. It confers a slow growth phenotype which is partially suppressed by exogenously added Ca(2+) and exacerbated by EGTA. Simultaneous disruption of CNA1 and CNA2 or CNB1 is lethal in FKS1-1. Disruption of FPR1 or CPR1 results in the loss of hypersensitivity. Overexpression of CNA1 or CNA2, in conjunction with CNB1, results in a significant decrease in hypersensitivity to FK506 and CsA. FKS1-8 mutant is sensitive to FK506 and cyclosporin A, has increased tendency to lyse and exhibits slow growth that is improved by the addition of osmotic stabilizing agents. It is more sensitive to the drugs when grown on galactose compared to dextrose. ETG1-1 mutant is resistant to the cell wall active echinocandins, which are inhibitors of 1,3-beta-D-glucan synthase. ETG1-4 mutant is hypersensitive to the chitin synthase inhibitor nikkomycin Z. Deletion of FKS1 leads to hypersensitivity to echinocandin-like antifungal lipopeptide caspofungin, a 1,3-beta-glucan synthase inhibitor. Deletion mutant also displays a 30% reduction in 1,3-beta-glucan and 15% reduction in alkali-insoluble 1,6-beta-glucan compared to wild-type. Increases cellular chitin level (PubMed:17142567). Increases chitin chain length (PubMed:17142567)
Mice accumulate significant amounts of heparan sulfate, which exhibits glucuronate-2-O-sulfated non-reducing ends, particularly in brain and kidney
Cells lacking this gene are unable to produce aeruginoside 126A and B
Leads to sensitivity to a range of drugs including doxorubicin, camptothecin, cycloheximide, and bleomycine, hydroxyurea, and fluconazole
RNAi plants show the formation of spontaneous disease-like nectrotic lesions leading to premature cell death. The defective plants also display a strong reduction in protein synthesis, the induction of autophagy and nitrogen mobilization
Defects in innate immunity. Death within 7 days of herpes simplex virus 1 (HSV-1) infection. In addition, mice show a remarkable reduction in cytotoxic T-cell responses after plasmid DNA vaccination. Cells fail to induce type I interferon production in response to dsDNA and infection with herpes simplex virus 1 (HSV-1) and L.monocytogenes that deliver DNA to the host cytosol
Produces only albino pseudothecia (PubMed:25080135). reduces tolerance to oxidative and thermal stresses (PubMed:25080135). Leads to increased expression of VOS1 (PubMed:25080135)
Plants are dwarf with faint pale-green leaves, decreased amount of ferredoxin and impaired photosystem I accumulation
Loss of movement due to severe or complete loss of muscle contraction near the anus resulting in partial paralysis of the tail region (PubMed:16613841). RNAi-mediated knockdown results in a shortened lifespan, prevents transcription factor hlh-30 nuclear translocation during S.aureus infection and reduces survival following infection (PubMed:27184844)
Morpholino knockdown of the protein produces embryos with a curly tail morphology and impaired swimming, suggesting dysfunction of neural circuits (PubMed:26168012). Spinal motor neurons have shortened axon tracts due to degeneration of neuronal processes (PubMed:27543974). Mitochondria in knockdown embryos show incomplete fission, abnormal aggregation and abnormal cell localization (PubMed:26168012, PubMed:27543974)
Randomization of left-right asymmetry, including heart and visceral organs
No visible phenotype under basal conditions (PubMed:22863753). Mutant mice show an enhanced response to lipopolysaccharide (LPS)-induced endotoxic shock (PubMed:22863753). Herpes simplex virus 1-infected knockout mice exhibit enhanced innate immunity and reduced morbidity and viral load compared to wild-type animals (PubMed:24560620). Mutant mice are hyper-susceptible to colitis-associated colorectal tumorigenesis (PubMed:27951586)
Morpholino knockdown results in dose-dependent lethality, severe developmental and growth retardation, marked bradycardia and pericardial effusions, and generalized edema
No visible phenotype under normal growth conditions, but plants are resistant to 2,4-DB
Mice display an absence of interferon (IFN)-producing cells and show impaired IFN production in response to viral infection (PubMed:12461077). Complete absence of plasmacytoid dendritic cells (pDCs) and conventional CD8(+)-expressing dendritic cells (cDCs) (PubMed:12393690, PubMed:12538667, PubMed:23382217). Mice display reduced autoimmunity (PubMed:23382217)
Cells are viable but display a severe growth defect and a delayed developmental cycle. In this mutant, phagocytosis drops by 60%, the protein transport between the TGN and lysosomes is probably defective and the contractile vacuole is lost
56 percent of embryos fail to hatch and are arrested at various stages between the bean stage and the four-fold stage (PubMed:20148972). 30 percent of L1 larvae fail to reach adulthood (PubMed:20148972). Embryos from the bean stage through to hatching have abnormally enlarged gut granules which fail to acidify (PubMed:20148972). Their size and number decreases at the L1 larval stage (PubMed:20148972). Normal gut granules in L2 larvae and adults (PubMed:20148972). Lysosomes in intestinal cells are mislocalized. 7 percent of embryos lack attachment of the anterior pharynx to the buccal cavity (PubMed:20148972). Exposure to hypertonic conditions reduces the number of vacuoles in mutant larvae (PubMed:20148972). Resistance to 5-fluorouracil (5-FU)-mediated toxicity (PubMed:19645718, PubMed:24262006)
RNAi-mediated knockdown results in embryonic lethality (PubMed:30921322). This is rescued by RNAi-mediated knockdown of rsd-6, and nrde-2 (PubMed:30921322). RNAi-mediated knockdown at the larval L1 stage causes a weak but significant decrease in expression of lin-39 (PubMed:24885717). Knockdown in mothers caused lower levels of lin-39 expression in the P blastomere of embryos (PubMed:24885717). Knockdown in L1 stage larvae, in a lin-39 mutant background, causes abnormal fusion of vulval precursor cells at larval stage L2 (PubMed:24885717)
RNAi-mediated knockdown results in the precocious onset of tail tip retraction resulting in over-retracted and shortened adult male tails (also known as the Ore phenotype) (PubMed:26811380, PubMed:30956008). RNAi-mediated knockdown results in increased expression of dmd-3
Mutant worms (tm3673) exhibit decreased egg-laying capacity with smaller brood size and lower hatching rates at 25 degrees Celsius. Worms do not show any change in physical appearance
Mistargeting of VA1d ORN axons to a medial position (PubMed:25741726). No effect on the immune response to septic injury using a mixture of Gram-positive and Gram-negative bacteria; adults are able induce expression of antibacterial peptide genes (Drs, AttA, DptA and Mtk) and mount a proper innate immune response (PubMed:21158756). RNAi-mediated knockdown results in adults that are acutely sensitive to the vesicular stomatitis virus (vsv) (PubMed:22464169). Following infection with vsv adult survival is decreased, and adults show a dramatic increase in viral RNA production 6 days post vsv infection and viral replication 9 days post infection (PubMed:22464169). Reduced autophagy in adult fat body cells following vsv infection (PubMed:22464169). Starvation-induced autophagy is not affected (PubMed:22464169)
Male subfertility. Sperm show an impaired ability to penetrate the zona pellucida and abnormal motility characterized by frequent stalling in the anti-hook position with the flagellum and hook of the sperm head pointing in opposite directions. Sperm flagella lack outer microtubule doublet 4 in 63% of mutants while doublet 7 is missing in 14.8% of mutants. A small number of mutants have multiple doublets missing but these are relatively rare: the 4th and 7th doublets are missing in 1.6% of mutants; the 4th, 5th and 7th doublets are missing in 3.7%; the 4th, 5th and 6th doublets are missing in 1.23%; and the 4th, 5th, 6th and 7th doublets are missing in 1.23%
Loss of notochord cells and posterior structures. Disrupts left-right development
Death as late embryos with morphological defects that resemble those of animals with mutations in genes of the ecdysone-inducible regulatory circuit. Amidated peptides are largely absent but peptide precursors, a nonamidated neuropeptide, nonpeptide transmitters, and other peptide biosynthetic enzymes are detected
Single deletion is viable, and shows no effects on glucose uptake
No visible phenotype under normal growth conditions (PubMed:20202164, PubMed:22555401, PubMed:25009544). Increased sensitivity to salt (PubMed:25009544)
Hypersensitivity to ABA, and strong drought and salinity tolerance. Slightly reduced sensitivity to cytokinin. More rapid germination, reduced requirement for light, and decreased far-red light sensitivity. Reduced sensitivity to N-isobutyl decanamide. Defects in procambium proliferation and absence of secondary growth. Enhanced freezing tolerance. Impaired meristematic development in seedlings. Disturbed cytokinin-mediated flower development abnormality
Sensitive to cumene hydroperoxide (CHP) as indicated by growth inhibition assay. No effect on growth after NaOCl treatment
No obvious growth difference under standard greenhouse conditions. Altered sulfur metabolism. Reduced growth in high osmotic pressure (mannitol) and in response to abscisic acid (ABA), but enhanced growth and fitness in high salt (NaCl) condition. Abnormal steady state levels of SUMO conjugates in various conditions
Abolishes the formation of aculene A and accumulates asperculane C as a major product and 14-prolyl asperculane C as a minor product
Unable to grow on N-acetyl-Ala-Ala-Ala as a nitrogen source
Inhibition of cell growth. Defects in processing of the rRNA components of the 60S ribosomal subunit and accumulation of the corresponding polyadenylated pre-rRNAs. Some delay in the maturation of the 35S primary transcript and 32S pre-rRNA. Delay in 20S pre-rRNA formation and a severe delay in mature 25S and 5.8S rRNA formation, with accumulation of the 35S, 32S, 27S, 26S and 7S pre-rRNAs and a 5' extended form of the 25S rRNA. Complete loss of synthesis of the mature 25S rRNA. Appearance at a low level of aberrant 23S species. Shorter 18S and 5.8S rRNA at the 5' end. Imbalance in the 40S:60S ratio and defects in progression beyond the 27S stage of 25S rRNA maturation during 60S biogenesis. Decreased ribosomes and polysomes and presence of halfmers
Cells lacking this gene accumulate a 6-hydroxy-2,4,5-triaminopyrimidine derivative
Embryonic lethality when homozygous, due to arrest of the embryo sac development soon after fertilization
Decreases COQ3 O-methyltransferase activity
No visible phenotype under normal growth conditions, but mutant plants show increased tolerance to freezing
Severely constipated due to absent or weak anterior body muscle (aBOC) and intestinal contractions during the defecation cycle (PubMed:11804572, PubMed:2323555). Reduced uptake and accumulation of triglycerides (PubMed:25849533). Locomotion defects characterized by mild body thrashing (PubMed:11804572). Partially resistant to paralysis induced by acetylcholine esterase inhibitor aldicarb (PubMed:2323555, PubMed:19028454). Reduced enrichment of unc-13 at presynaptic active sites of neuromuscular junctions (PubMed:11804572)
RNAi-mediated knockdown causes moderately abnormal vulval development (PubMed:18700817). RNAi-mediated knockdown causes defects in octanol response (PubMed:21549604)
High chlorophyll fluorescence (hcf) phenotype and plant death at seedling stage when homozygous
Seedling lethality when homozygous. Increased callose deposition and accumulation of reactive oxygen species in roots
Larvae are able to survive on maternal contribution until the third larval stage but they fail to initiate the rapid growth phase and die
Cells lacking this gene lose the ability to grow on L-talarate as carbon source, and are impaired in the ability to utilize galactarate as carbon source
RNAi-mediated knockdown leads to disorganized chromosome morphology, causes DNA bridges in mitosis and leads to chromosome segregation defects in mitosis and meiosis
Loss of expression of the SigW regulon (PubMed:17020587)
Defects in phyllotaxis and plant architecture. Morphological abnormalities of several organs (PubMed:12215507). Defects in cellular development and organization of both the shoot and the root meristem (PubMed:20228247)
No visible phenotype under normal growth conditions, but the double mutant plants mmdh1 and mmdh2 have decreased germination rate, grow slowly, are small, have increased photorespiration and die before producing seeds
Females display a defect in the formation of primordial follicles leading to infertility. Although embryonic gonadogenesis appeared normal, primordial follicles were not formed at birth, and massive depletion of oocytes resulted in shrunken ovaries and female sterility. Null females do not express ZP1, ZP2 or ZP3. Since its expression is oocyte-specific in females, Figla is a plausible candidate gene for primary ovarian failure in otherwise phenotypically normal women. The gene for Figla null males have normal fertility
RNAi-mediated knockdown results in viable animals, with progeny that have nuclear migration defects in the hyp7 hypodermal precursor cells at the L1 stage of larval development (PubMed:20005871). RNAi-mediated knockdown results in increased germ cell apoptosis, but does not affect somatic cell death (PubMed:24030151). RNAi-mediated knockdown results in reduced mett-10 accumulation in nuclei (PubMed:19752194). RNAi-mediated knockdown prevents fbf-2 localization to P-granules (PubMed:27864381). Furthermore, RNAi-mediated knockdown in a fbf-2 loss of function background results in sterility and masculinization of the germline where only sperm, and not oocytes, are produced (PubMed:27864381). RNAi-mediated knockdown in a dhc-1 loss of function (or195) mutant background results in failed homologous chromosome pairing during meiosis (PubMed:26483555). RNAi-mediated knockdown in a glp-1 gain of function sensitized mutant background results in disrupted meiotic and mitotic processes (PubMed:19752194). This in turn results in polyploid nuclei, that are larger in size and contain more DNA as compared to wild-type (PubMed:19752194). In addition, many oocytes from these animals also contain unpaired chromosomes (PubMed:19752194)
Slightly reduced gravitropic response
Mutant shows reduced amount of cadaverine in the medium
Abnormal amyloplast sedimentation and gravitropism in both inflorescence stems and hypocotyls with elongated stems in a zigzag fashion, due to narrower angles in internodes mediated by aberrant cell shapes (PubMed:9210330, PubMed:11826297, PubMed:11826298, PubMed:15797025). Reduced formation of vacuolar membrane 'bulbs' (PubMed:21645145). Altered transport of proteins to the lytic vacuole (PubMed:17360696). Small and wrinkled rosette leaves. Fragmentation and vesiculation of vacuoles mostly in cortex cells of the inflorescence stem in comparison to endodermal cells
Deficient mice exhibit loss of coordinated movements and abnormal gait
Early embryonic lethality before 7.5 dpc, accompanied by accumulation of p53 and widespread apoptosis
Delayed senescence (PubMed:29659022). Reduced expression of genes involved in the degradation of starch and the accumulation of mono- and disaccharides (e.g. AMY1, SFP1 and SWEET15) as well as of genes implicated in chloroplast protein degradation and in the catabolism of lysine, phytol and free fatty acids (e.g. CV, LKR/SDH and PES1) (PubMed:29659022)
Deletion of the gene leads to a ceramide molecule with a mass reduction of 16 Da corresponding to the loss of a hydroxyl group
RNAi-mediated knockdown results in an arrest at an early larval stage. In adults, causes a 80 percent reduction in progeny size and a 50 percent increase in eIF2alpha phosphorylation
Knockout mice show hypoglutamylation of KLF4 resulting in KLF4 proteasome-mediated degradation in early-stage embryos and impaired early embryonic development
A double rhsA-rhsIA deletion is outcompeted by wild-type cells, restoration of rhsIA restores normal growth in competition experiments. Restoration of growth requires the RhsA-specific immunity protein, rhsIB does not restore growth
Small and stunted plant phenotype when grown on 12/12 hour photoperiod light. No visible phenotype when grown under short or long day light (8/16 hours or 16/8 hours of light/dark)
Strains lacking psmB gene are inviable
Homozygous knockout mice are viable, fertile and born in Mendelian ratios. Echocardiographic analysis reveals progressive aortic valve disease, without dysfunction in any of other valves. Valve defects range from aortic regurgitation to severe aortic valve stenosis, or a combination of both. Dysfunctional aortic valves show thickening of the commissures with reduced opening of the valve, occasionally in a 'fish mouth' pattern with only 2 visible commissures, reminiscent of fused bicuspid aortic valves in humans. The extracellular matrix is disorganized throughout the aortic valve leaflets, with significant thickening at the hinge region of the leaflets and increased collagen deposition covering the raphe. There is no evidence of valve calcification
Abcg4 deficiency does not significantly affect the levels of sterols in the brain except for brain lathosterol levels, which are slightly elevated (PubMed:18039927). Abcg1/Abcg4 double knockout mice display significant accumulation of 24(S)-hydroxycholesterol (24S-HC) and 27-hydroxy-cholesterol (27-HC) in addition to the cholesterol synthesis intermediates, desmosterol, lanosterol and lathosterol (PubMed:19633360, PubMed:18039927)
Enlarged pollen grains containing four vegetative nuclei and up to eight sperm cells. Short siliques with low fertility
Deletion of the gene results in a bald phenotype, mutant fails to produce aerial hyphae and spores on glucose-containig media. The mutant is arrested at an early stage of the developmental program
Increased cytokinin levels in flag leaves, reduced abscisic acid (ABA) levels, increased branch, tiller, and grain number, and delayed leaf senescence
Reduced fertility, premature senescence and severe dwarfism in psi2-1 psi3-1 plants due to reduced cell growth and proliferation as well as premature leaf growth arrest
Small plants with chlorotic leaves, aberrant chloroplast biogenesis and inefficient chloroplast import of both photosynthetic and non-photosynthetic preproteins (PubMed:15516497, PubMed:15563614, Ref.11, PubMed:15659100, PubMed:17376159, PubMed:17291312, PubMed:20382967). Clpc1 and clpc2 double mutants are embryo lethal when homozygous (PubMed:17376159)
Partially blocks reticulophagy, and the double ATG39/ATG40 knockout almost completely blocks this pathway. Leads to a more densely reticulated cytoplasmic endoplasmic reticulum (cER)
Increased body size and increased formation of dauer larvae. Double knockout with che-2 rescues the locomotion defect in the single che-2 mutant
Reduced sperm count and motility
Mutant embryos do not display the anterior cortical contractions associated with pseudocleavage and do not form a pseudocleavage furrow. Cortical actin foci remain uniformly distributed rather than the asymmetric distribution seen in wild-type embryos. Approximately 20% of mutant embryos fail to hatch. Those that do hatch are viable and fertile and display normal P granule localization. Increased embryonic lethality in par-1, par-2 and par-3 mutants
Mice have smaller testis and show impaired spermatogenesis
Reduces secretion of kojic acid
Death before 11.5 dpc with defects in notochord and floor plate formation and a reduction of definitive endoderm. Mice also display anterior truncations of the forebrain, defects in the ventral body wall, in closure of the neural tube, and either an arrest of embryonic turning and heart looping or a randomization in their direction
RNAi-mediated knockdown causes a delay in egg hatching
Morpholino EIF4A3 knockdown results in multiple defects in craniofacial structures. Fish morphants staged at 24 hpf show eyes reduced in size, and dark and opaque zones in all brain structures. In addition, the otic vesicle and the midbrain/hindbrain border regions are barely detectable. Cartilage and bone staining reveals underdevelopment of craniofacial cartilage, bone alterations, and clefting of the lower jaw. The third through sixth pharyngeal arches are underdeveloped in morphants
Mutant animals exhibit a lack of di- and trimethylation (H4K20me2/me3) and an increase of monomethylation of 'Lys-20' (H4K20me1) of histone H4 on autosomes, leading to equal H4K20me1 levels on autosomes relative to X chromosomes (PubMed:22393255, PubMed:23028348, PubMed:26641248). Decreased expression of autosomal genes (PubMed:26641248). Increase in 'Lys-16' acetylation of histone H4 (H4K16ac) on hermaphrodite X chromosomes (PubMed:22393255). Increase in binding of the RNA Pol II large subunit ama-1 on X chromosome gene promoters relative to autosomes (PubMed:26641248). In a dpy-21 mutant background, RNAi-mediated knockdown leads to embryonic lethality (PubMed:23028348). In the TOR complex 2 mutant background rict-1, suppresses the growth delay and elevated body fat index (PubMed:23884442)
Essential, it cannot be deleted, although it can be replaced by its E.coli counterpart
Morpholino knockdown in one-cell embryos results in reduced caspa activity and impairs caspa activity in response to infection with the bacterium S.typhimurium (PubMed:29123523). In addition, there is increased susceptibility to the bacterium S.typhimurium (PubMed:29123523)
Leads to the inability to grow on propionate as the sole carbon source, a strong reduction of growth rate and spore color formation on media containing both glucose and propionate, and an accumulation of propionyl-CoA. Leads also to an attenuation of virulence in an insect infection model
Conditional deletion in limb and head mesenchyme leads to increased cartilage mass and deficient ossification: osteochondroprogenitors become chondrocytes and not osteoblasts caused by inability of PTPN11/SHP2 to mediate tyrosine dephosphorylation of SOX9
Adult mutant flies are unable to fly and roll over when inverted, explaining the name 'turtle' (PubMed:11312296). In the eye, axonal tiling of the R7 photoreceptor is defective in approximately 22% of axons (PubMed:24174674). Double knockouts of tutl and bdl rescue the R7 axonal tiling defect (PubMed:24174674)
Impaired social interaction and prepulse inhibition
Mutants exhibit a block in almost all programmed cell deaths that normally occur during development (PubMed:1286611). RNAi-mediated knockdown causes a defect in egg laying in a small proportion of animals (PubMed:25432023). Also causes a moderate increase in CEP neuron survival in response to high Al(3+) levels (PubMed:23106139). In an ain-1 mutant background, enhances the proportion of animals arrested at the larval stage, with egg-laying defects and with a ruptured vulva (PubMed:25432023)
Females have slightly lower body weight than wild-type at birth, but strongly reduced body weight one to eight weeks after birth. Mutant females do not display normal estrus cycle responses to male odor, and have very low fertility due to a strongly decreased rate of ovulation and a low mating rate
Cells are partially resistant to E4orf4 and can partially suppress the spindle checkpoint defect in CDC55 deletion mutant. Does not suppress the rapamycin-resistance of CDC55 deletion mutant. YND1 and CDC55 double mutant is fully resistant to E4orf4. Deletion mutant suppresses the synthetic lethality of triple mutants, where UPC2 and ECM22 are knocked out along with either HAP1, ERG6 or ERG28
Loss of ability to grow with glutathione as a sulfur source
Mice develop normally but show minor defects in the natural killer (NK) cells (PubMed:8602528). They are however prone to development of autoimmune diseases, such as autoimmune diabetes on a permissive genetic background (PubMed:21300912, PubMed:21873518). Knockout NOD mice exhibit accelerated, invasive insulitis, corresponding to increased CD4(+) and CD8(+) T-cell islet infiltration and intraislet proliferation (PubMed:21873518). T-cells display a delay in cell cycle arrest following stimulation with the superantigen staphylococcal enterotoxin-B resulting in increased T-cell expansion and splenomegaly (PubMed:15100286). Mice lacking both Lag3 and Pdcd1/PD-1 die of severe myocarditis before 10 weeks of age in BALB/c mice (PubMed:21300912)
Eliminates endogenous IPS-PLC activities
Defects are the cause of the lnks phenotype, a phenotype related to primary ciliary dyskinesia (PCD). PCD is characterized by recurrent respiratory infections, situs inversus and ciliary immotility and hydrocephalus. The length of the cilia projecting from the nodal pit cells in mutants is drastically reduced
Mutant mice, in which PPIL1 is truncated at position 102, die before 12.5 dpc
Mutants have normal circadian behavior with normal PER2 expression in the suprachiasmatic nucleus
No visible phenotypes under normal growth conditions
Seedling lethality at the early rosette stage when homozygous
Knockdown mutant shows increased reactive oxygen species (ROS) generation in acidic stress and nutrient depleted conditions
Highly lethal at L1 larval stage due to excretory defects. A small percentage of mutants die as embryos and a very small number survive to adulthood and are fertile but have defects in locomotion and egg-laying. There is no maternal effect on lethality
Dwarf, chlorina and half sterility phenotypes
Mice overexpressing ATP8A1 in brain display an autistic-like behavior but no difference in hippocampus-dependent learning. Unlike the mice overexpressing ATP8A1,homozygous knockout mice for ATP8A1 do not show any deficits in sociability behavior
Mutants are viable but have enlarged lysosomes (PubMed:21613545). Egg-laying defect, slow, but coordinated locomotion, and reduced levels of unprocessed and processed cargo in the motor neuron axon of the dorsal nerve cord (PubMed:27191843)
Defects in Sox10 are the cause of the mouse mutant dominant megacolon (dom). While dom/+ heterozygous mice display regional deficiencies of neural crest-derived enteric ganglia in the distal colon, dom/dom homozygous animals are embryonic lethal
No visible phenotype (PubMed:21166897). Deletion of 3 type IV toxin genes (cbtA, ykfI, ypfJ) leads to a slight reduction in resistance to oxidative stress, has no effect on cell growth (PubMed:28257056)
Causes ectopic up-regulation of transcription of specific genes, such as lin-39 and lag-2 (PubMed:16890929). Causes accumulation of double-stranded RNA transcripts (PubMed:29760282). Splicing defects (PubMed:29760282). Results in increased levels of spliced xbp-1 under basal conditions (PubMed:24715729). Increases survival in response to ER stress inducers tunicamycin or dithiothreitol (DTT), as compared to wild-type (PubMed:24715729). Knockout in a chromobox protein homolog hpl-1 mutant background has no effect on the distribution of monomethylated histone H3 'Lys-9' (H3K9me3) in chromatin (PubMed:26476455). Germline nuclei differ in size and morphology in a his-24 mutant background, probably as a result of altered chromatin compaction (PubMed:23028351). Causes defects in gonad elongation when grown at 25 degrees Celsius; phenotype exacerbated in an hpl-1 mutant background (PubMed:16905130). Causes vulva defects, infertility and larval lethality, in particular when grown at 25 degrees Celsius; exacerbated in various mutant backgrounds, such as hpl-1, or rcor-1 or his-24, or by simultaneous RNAi-mediated knockdown of lin-15A, or lin-9 or lin-35 (PubMed:26476455, PubMed:23028351, PubMed:16890929). Causes male tail defects in a his-24 mutant background (PubMed:23028351). Some knockout phenotypes are suppressed by simultaneous RNAi-mediated knockdown of histone-lysine N-methyltransferase set-2 (PubMed:17967446). RNAi-mediated knockdown causes sterility and vulval defects; sterility exacerbated by simultaneous RNAi-mediated knockdown of hpl-1. Defects in oocyte morphology, perhaps due to abnormal maturation (PubMed:11850401)
Indistinguishable from wild-type at birth, but die after three weeks due to metabolic syndrome characterized by serum hypoproteinemia, hypoalbuminemia, hypoglycemia, hypocalcemia, hypotriglyceridemia and hypocholesterolemia, growth retardation, decreased bone formation and increased bone resorption. In addition, spontaneous tumor development was observed
Defective embryo arrested at preglobular/early globular stage with the formation of giant endosperm nuclei (PubMed:19228337, PubMed:15266054, PubMed:28137757). Suspensor overproliferation phenotype preceded by ectopic auxin maxima distribution (PubMed:28137757). Reduced sister chromatid cohesion (PubMed:19533160). In conditional RNAi plants, sterility, arising from several defects in meiotic chromosome organization (e.g. failure of homologous pairing, loss of sister-chromatid cohesion, mixed segregation of chromosomes and chromosome fragmentation) and leading to shrunken and inviable pollen grains, and degeneration of the embryo sac. In the meiocytes, aberrant distribution of the cohesin subunit SCC3 on chromosomes, and defects in chromosomal axis formation (PubMed:19228337)
Takes up less Fe(3+) than wild-type cells, is less responsive to magnetic field, cells have 1-5 magnetosomes (compared to 8-14 in wild-type). Cells have chains of empty vesicles (PubMed:15004275). Magnetosomes are slightly further apart than in wild-type (PubMed:20439702). Deletion of genes mamH to mamV (amb0961 to amb0978) gives cells with no magnetosomes and no magnetic response (PubMed:20212111)
RNAi-mediated knockdown causes transcription factor atfs-1 accumulation in mitochondria
Growth rate decreased at 37 and 25 degrees Celsius, almost completely stopped at 3 degrees Celsius. No motility at 25 or 3 degrees Celsius (PubMed:22564273). Decreased growth at 42 degrees Celsius, pH 9.4 and in the presence of 5 mM H(2)O(2) (PubMed:22820328)
Defects in development due to mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) deficiency (PubMed:23536703). Increased autophagy (PubMed:23536703)
Knockout mice are phenotypically normal (PubMed:32935379). Increase in cytokine production following viral and bacterial challenge, including increases in Ifnb1, Il6, Il12, Ccl5, Cxcl10 and Tnf protein abundance (PubMed:32935379). Increase in survival following exposure to a lethal dose of L.monocytogenes and decrease in bacterial load in the spleen and liver (PubMed:32935379). Increase in susceptibility to endotoxin shock (PubMed:32935379)
Worms exhibit resistance to the Cry5B and Cry14A toxins produced by Bacillus thuringiensis. This is thought to be due to mutants having reduced population of glycolipids which are targeted by the Cry proteins
Deletion mutants are unpiliated but nevertheless form biofilms showing that attachment and accumulation of cells did not depend on pilus expression
Mutant is defective in taxis toward 17 amino acids, including Gly, L-Ser, L-Thr and L-Val. Mutant shows also decreased chemotactic responses to TCE, chloroform and methylthiocyanate (PubMed:16233808, PubMed:8522505, PubMed:9353923). Deletion of pctA, pctB and pctC abolishes chemotaxis to 5 mM histamine, but significant chemotaxis is observed at a concentration range between 500 nM and 500 uM (PubMed:30425146). The pctABC-tlpQ deletion mutant is devoid of histamine chemotaxis over the entire concentration range (50 nM to 50 mM) (PubMed:30425146). Deletion of the gene significantly reduces chemotaxis to AI-2 (PubMed:33097715). The deletion mutant does not show significant reduction in swarming or immobilization near epithelial wounds, but the pctABC triple deletion mutant shows a significant reduction in chemotaxis and immobilization along wounds of human cystic fibrosis airway epithelial cells (PubMed:27031335)
Very sensitive to temperature and medium changes; slow growth at 37 degrees Celsius on Mueller-Hinton medium, poor growth at 30 degrees Celsius. No growth on other media at 37 degrees Celsius unless supplemented with MgCl(2), nor at 42 or 25 degrees Celsius. Double rnj1-rnj2 mutant grows much slower than either single mutant and only at 37 degrees Celsius
Cells are more sensitive to killing by nalidixic acid, the effect is mitigated by pretreatment with 2,2'-bipyridyl and thiourea, both of which inhibit hydroxyl radical accumulation
Impairs the production of 8-hydroperoxy-8(E),12(Z)-octadecadienoic acid (8-HPODE) and 7,8-dihydroxy-9(Z),12(Z)-octadecadienoic acid (7,8-DiHODE) (PubMed:20023302). Does not affect appressoria and conidia formation, nor the infection of rice leaves and roots (PubMed:20023302)
Causes lethality under aerobic growth conditions (PubMed:16630279, PubMed:29773647). Affects the methyl sterol oxidase reaction performed by the C4-methylsterol monooxygenase ERG25 and leads to an increase in intermediate sterols and a corresponding decrease in zymosterol and ergosterol production (PubMed:29773647). Impairs Fe-S cluster synthesis via increased degradation of YFH1 (PubMed:29773647). Leads to increased mitochondrial oxidants (PubMed:29773647). Leads to an increased accumulation of iron from the culture media (PubMed:23892078)
Arsenate hypersensitivity
Impairs the production of abscisic acid (ABA) (PubMed:31034868). Does not affect sporulation, pycnidiospore germination nor fungal growth rates in vitro, and does not alter the pathogenicity of L.maculans (PubMed:31034868)
Mice are born at the expected Mendelian rate. Young animals have no visible phenotype, but oldeer mice develop urinary incontinence, head tremor, spastic gait, weakness of the hind limbs, followed by additional weakness of the forelimbs, weight loss and premature death. Their brains show no gross anatomical defects, but show loss of Purkinje cells. In addition, mice present massive axon degeneration in the ascending and descending tract of the spinal cord. Male mice are infertile and females are subfertile
displays an accumulation of abnormal vesicular structures and leads to valproic acid sensitivity
Not essential it can be disrupted, its absence impairs fitness in long-term (up to 6 days) growth in stationary phase
Temperature-sensitive phenotype with defective touch receptor neuron synaptic transmission conferring variable degrees of touch insensitivity amongst individual animals (PubMed:8692859, PubMed:19652181). Touch receptor neurons and GABAergic motor neurons have mis-localized presynaptic vesicles as indicated by aberrant expression of the protein snb-1 and distorted cell bodies (PubMed:19652181, PubMed:23527112). Reduced rate of inhibitory postsynaptic currents at the neuromuscular junctions of GABAergic motor neurons (PubMed:23527112). No effects on cholinergic synaptic transmission or snb-1 distribution in cholinergic motor neurons (PubMed:23527112). Increased rate of paralysis, in response to acetylcholine esterase inhibition by the drug Aldicarb, due to increased accumulation of acetylcholine in the extracellular fluid resulting permanent contraction of body wall muscles (PubMed:23527112). Knockout with a mec-7 heterozygous mutant, but not a null mec-7 mutant, rescues the touch sensitivity defect in the mec-15 single mutant (PubMed:19652181)
Leads to short telomeres
No obvious phenotype. Mice are viable and fertile and present only very minor changes in gonadal and adrenal steroid hormone production. testis-specific gene disruption (PubMed:24174323) does not affect testosterone production, gametogenesis and male fertility
Delayed onset of inflammation. Reduced progression of osteoarthritis, infectious colitis, allergic dermatitis and experimental autoimmune encephalomyelitis. Upon induced allergic and toxic contact dermatitis ear swelling responses, plasma extravasation and leuocyte adherence are significantly attenuated. Upon ovalbumin (OA) sensitization and following challenge infiltration of eosinophils and increase of eotaxin content in bronchoalveolar lavage fluid are abrogated
RNAi-mediated knockdown prevents germ cells from entering meiosis and results in the accumulation of unspliced mRNAs in the cytoplasm
Newborn mice are viable. Female mice display reduced fertility due to deficiencies in ovarian follicle development, reduced efficiency of ovulation, and the arrest of fertilized eggs at one-cell stage
Knockout mutants grown in continuous light appear to be the same as wild-type, showing no differences in growth or photosynthetic activity
Cells provided with nutrients proliferate slower than normal. Upon starvation, the progression of differentiation is delayed in a cell density-dependent manner. Cells form tiny aggregates and more aggregation centers compared to wild-type cells, resulting in a higher number of tiny migrating slugs. Cells form complete tiny fruiting bodies 3-4 h faster than wild-type. In a similar manner to wild-type, most cells remain as non-aggregated single cells in the presence of caffeine, which is an inhibitor of adenylate cyclase activation. Decreased expression of cyclic AMP receptor carA gene and of csaA, a contact site A gene, both of which are expressed early in development. Cells exhibit a disordered change of histone H2B modification compared to wild-type, in which the modification level of histone H2B appears to increase in response to cell differentiation. Adequate histone H1 and H3 modifications are also impaired. Normal uniform distribution of starved cells in aggregation streams, but abnormal distribution of cells in subsequent multicellular structures
Deletion of the gene leads to aberrantly formed spores (PubMed:8755877). Mutant spores release their dipicolinic acid (DPA) via germinant receptor (GR)-dependent germination more rapidly than wild-type spores. Spores are also more sensitive to UV radiation and outgrow slowly (PubMed:22522895)
Adult life span extension and increased resistance to oxidative and heat stress but not to DNA damage, starvation or pathogen stress
Impaired development, multinucleation, fruiting body formation that is delayed by 36-48 hours during the development in addition to stalks and spores that are thin and smaller
Hyposensitivity to abscisic acid (ABA) (PubMed:17217461). Reduced expression levels of aleurone-related genes (e.g. CP1, CP, GASA1, BXL1 and BXL2) in seeds. The triple mutant myb33 myb65 myb101 has a male sterility and exhibits slower protein storage vacuoles (PSVs) vacuolation rate in aleurone layers upon seed germination (PubMed:20699403). The myb33 myb65 double mutant is defective in anther development, with a tapetum undergoing hypertrophy at the pollen mother cell stage, resulting in premeiotic abortion of pollen development and male sterility. This sterility is conditional, fertility being increased both under higher light or lower temperature conditions (PubMed:15722475)
Synthesizes high levels of glucosamine-6-phosphate deaminase and over half of the amount of glucosamine-6-phosphate synthase compared to wild-type
Cells lacking this gene show no detectable growth defect on complete and minimal medium (PubMed:9651328). The folX deletion selectively eliminates monapterin production and secretion, but has no effect on the intra- and extracellular folate profiles (PubMed:19897652)
129/SvJ mice lacking Ica1 do not display an obvious phenotype and age normally, while NOD mice without Ica1 develop diabetes and display sudden mid-life lethality but are resistant to cyclophosphamide-induced disease acceleration
Viable, with normal growth, reproduction and locomotion. Increased sensitivity to the acetylcholine esterase inhibitor aldicarb, but normal sensitivity to levamisole, an agonist for postsynaptic acetylcholine receptors on muscles. In response to induced acetylcholine release, the amplitude and rise phase of excitatory postsynaptic currents (eEPSCs) during synaptic transmission is as wild-type, but there is prolonged and slow decay of eEPSCs during the late phase of synaptic transmission, which results in increased release of synaptic vesicles in cholinergic motor neurons
Increased sensitivity to the pathogenic biotrophic bacteria Xanthomonas campestris pv. campestris (Xcc)
Embryonic wound healing defects (PubMed:22140578). RNAi-mediated knockdown in the prothoracic gland (PG) delays the onset of pupariation by prolonging the L3 larval stage and increases adult weight (PubMed:19965758)
The fat-2(wa17) mutant leads to high levels of C18:1n-9 and low levels of PUFAs
Mice infected with the ppe18 deleted strain have reduced infection burden in lung, liver and spleen and have better survival rates compared to mice infected with the wild-type train
Deletion represses the production of persister cells
Completely abolishes the production of novofumigatonin and asnovolin A, but accumulates farnesyl-DMOA
Does not surface present lipoproteins TbpB, LbpB or fHbp (in strains B16B6 and MC58). Bacteria are considerably less virulent in mouse sepsis model (shown in strain B16B6 only)
RNAi mediated knockdown at early larval stages and in young adults results in an extended lifespan (PubMed:21471153). RNAi-mediated knockdown results in delayed developmental defects with an increased number of seam cells in young adults (PubMed:21471153). RNAi-mediated knockdown suppresses the embryonic lethality of hermaphrodites in the double fox-1 y303 and sex-1 y263 mutant background (PubMed:23666922)
No visible phenotype under normal growth conditions, but the seeds of the double mutant plants cfm3a-4 and cfm3b-2 fail to germinate (PubMed:18799595). The double mutant rfc3-2 sprt2-1 is rescued for primary and lateral root development, intracellular distributions of plastids in roots, as well as for plastid rRNA level compared to the single mutant rfc3-2 (PubMed:32143506)
Higher accumulation of ToMV in infected leaves
Static olfactory placode cilia; reduced movement of debris in the olfactory placode. The morphology and number of cilia in the olfactory placode is unaffected, but an abnormal ultrastructure in these cilia is observed, including reduced or missing outer and inner dynein arms
Reduces the production of abscisic acid (ABA) and accumulates a compound that corresponds probably to 1',4'-trans-diol-ABA
Deletion of both inlA and inlB prevents bacterial uptake by human enterocyte-like cell line Caco-2 (PubMed:1905979). Deletion of inlA alone decreases host cell entry; the reduction varies from 98% to none depending on the cell line tested (PubMed:11929538, PubMed:8601315, PubMed:10406800)
Lethal, with sporophytic embryo-defective with an arrest at the globular stage during embryo development. Abnormal cell division characterized by several rounds of mitosis with aberrant planes of division
Albino phenotype and seedling lethality under normal growth conditions
Mutants are viable, but osmotically sensitive in minimal media and sensitive to cold shock
Defects are the cause of a phenotype related to primary ciliary dyskinesia (PCD). Embryos have curly tails, pronephric cysts and left-right asymmetry defects
Flies exhibit defects in vesicular transport to lysosomes and therefore can alter eye color
Worms exhibit diverse nervous system defects
No visible phenotype. When associated with OBE2 disruption, plants exhibit premature termination of the shoot meristem and impaired root apical meristem establishment, leading to a diminutive phenotype characterized by an absence of roots and defective development of the vasculature
Leads to susceptibility to the antifungal azole derivatives in azole-resistant clinical isolates (PubMed:10543759, PubMed:16803598). Suppresses the development of high-frequency azole resistance (HFAR) in a medium containing fluconazole (PubMed:11257032)
Displays higher growth rate and higher sensitivity to superoxide and heat stress, on nonfermentable carbon sources. Leads to decreased intracellular oxidation upon heat shock
Does not affect tolerance to benzoxazolinone
Morpholino knockdown of the protein increases both cell proliferation and apoptosis in the otocyst. Increases proliferation of neuronal cells and decreases the number of cells destined to form hair cells. Disrupts myogenesis by interfering with the proliferation of dermomyotomal cells expressing pax7 and loss of myog expression
Knockout mice lacking Slc30a8 do not display overt developmental, morphological or behavioral phenotypes. However, a significant difference in plasma insulin concentration is observed
Abolishes the production of lucilactaene and NG-391, and leads to the accumulation of prelucilactaene G and prelucilactaene H
Loss of circadian control of gene expression; KaiA and SasA protein levels are unaffected, KaiC is constitutively phosphorylated. No growth after 24 days in a light/dark regime (PubMed:16882723). Loss of circadian gene regulation, cells arrest growth in a dawn-like state (PubMed:24315105). Severely attenuated growth after 5-7 days in a light/dark regime, glycogen degradation rate is normal for 2 hours in dark, terminates at a higher than wild-type level (PubMed:25825710)
Heterozygous animals are smaller than their wild type littermates but appear normal, reach sexual maturity and are fertile (PubMed:2330056). Transmission of this mutation through the male germline results in heterozygous progeny that are growth deficient. In contrast, when the disrupted gene is transmitted maternally, the heterozygous offspring are phenotypically normal. Homozygous mutants are indistinguishable in appearance from growth-deficient heterozygous siblings (PubMed:1997210). Mutant animals for transcript P0 specifically show a reduced growth of the placenta followed by fetal growth restriction, passive permeability for nutrients of the placenta is decreased (PubMed:12087403)
Reduced growth rate. Unability to accumulate starch in leaves during daylight
Causes growth retardation and leads to significant reduction in virulence
In deep cerebellar nuclei (DCN) neurons of knockout mice, inhibitory synaptic strengths are reduced as compared to those in wild-type mice, whereas the properties of excitatory synapses are unaffected (PubMed:30125937). A reduction in GABAergic pre-synaptic terminals of Purkinje cells are seen in the DCN neurons (PubMed:30125937). Mice show significantly attenuated perineuronal nets formation in the DCN, a marked decrease of brevican (BCAN) in the brainstem and cerebellum and a reduction in synapse number in the DCN neurons (PubMed:22121037)
Cell-specific silencing in motor neurons is associated with loss of motor neuron cell bodies and progressive denervation of the neuromuscular junctions with aging, consistent with the clinical features of human distal spinal muscular atrophy X-linked disease, 3 (DSMAX3)
The double mutants crc-1 rbl-1, crc-1 sqn-4, and crc-1 ult1-4 exhibit strong floral meristem (FM) indeterminacy with reiterations of extra floral whorls in the center of the flower
No visible phenotype. Suppresses max2 phenotypes associated with strigolactone-D14-regulated growth. Smxl6 and max2 double mutants have branching and inflorescence heights similar to max2 mutants
Defects lead to retarded growth
Leads to the accumu-lation of new glycine-containing victorin derivatives
Upon operon disruption no reduction of serine uptake at pH 6.9, no visible effect on outer membrane permeability, however severe delays in ammonia secretion, medium pH neutralization and growth also occur at pH 5.5
Spores arrest with a single nucleus and fail to extend a germ tube
Mutant mice show loss of striated-sheet matrix and Hensen's stripe, a prominent feature in the basal two-thirds of the tectorial membrane. They have enhanced spontaneous, stimulus-frequency, and transiently evoked otoacoustic emissions
Mice are viable and do not show any histological abnormalities in epithelial tissues or develop any pathological and/or metabolic disorders associated with the failure of epithelial organs
Leads to significant reduced xylanase activity
In most cases, death at the late pupal stage, probably due to lipid accumulation in endosomes/lysosomes. Some flies survive until adulthood and display a strong rejection behavior of female flies in response to male courtship accompanied by decreases in the viability, adult life span, and oviposition rate of the flies. Some oocytes and adult neural cells undergo degeneration, which is preceded by reductions in programmed cell death of nurse cells in ovaries and of neurons in the pupal nervous system, respectively. The central nervous system (CNS) of flies accumulates lipopigments. Flies also display a strong synaptic overgrowth: synapses reveal a strong increase in bouton number and a deficit in presynaptic release caused by enhanced/misregulated TGF-beta signaling. A widespread accumulation of enlarged lysosomal and late endosomal inclusions is also present in yolk spheres during oogenesis
Plants show overall delay of growth and development, and mature plants are dwarf. Panicle of CP1 mutant contains several flowers which remain unfertilized due to the abnormal development of the pollen
Lack of sinapoylated anthocyanins
Leads to increased hyphal growth on solid media
Cells lacking this gene are extremely sensitive to DNA-damaging agents. They show 4-fold impaired growth in their absence
Reduced seed germination potential and inhibition of seedling establishment by sucrose (PubMed:19255443). Exhibits abnormal shoot and leaf development (PubMed:19620738). Increased tolerance of seedlings to submergence and starvation (PubMed:25667318)
Produces only albino pseudothecia (PubMed:25080135). Reduces tolerance to oxidative and thermal stresses (PubMed:25080135)
Abolishes the biosynthesis of communesin B and leads to the exclusive formation of communesin A
No visible phenotype. Constitutive skn-1-dependent expression of the proteasomal subunit rpt-3. Double knockout with ddi-1, sel-1, sel-9, png-1 or skn-1a results in failed expression of the proteasomal subunit rpt-3
No visible phenotype (PubMed:24794527). Disrupted K(+)/H(+) efflux antiporter in the kea1 kea2 double mutant (PubMed:33111995). Mutants kea1 kea2 display strong growth retardation along with pale green leaves associated with a delayed formation of chloroplast pigments and electron transport complexes, as well as maturation defects of the plastid ribosomal RNAs and hampered RNA-protein interactions (PubMed:24794527, PubMed:27443603, PubMed:34235544). Double mutant kea1 kea2 exhibits a drastic photosystem II (PSII) quantum yield recovery under moderate salt stress (PubMed:34235544). Impaired rapid hyperosmotic-induced Ca(2+) responses in kea1 kea2 (PubMed:27528686). K(+)-induced alkalinization of plastid stroma is suppressed in kea1 kea2 mutants, as well as delayed rate of decay to neutral pH in the dark, but normal light-stimulated alkalinization of the stroma (PubMed:33111995). In addition, reduced primary root length is observed in the kea1 kea2 double mutant in the absence of sucrose, associated with lower abscisic acid (ABA) accumulation and impaired photosynthesis; these phenotypes are partially restored in the presence of moderate NaCl treatment (75 mM) (PubMed:35193734, PubMed:33485149). Plants kea1 kea2 have slightly higher K(+) levels and altered reactive oxygen and nitrogen species (ROS and RNS) metabolism, but enhanced resilience to drought stress due to an increased photorespiratory pathway and stomata closure (PubMed:33485149). Triple mutants kea1 kea2 kea3 are extremely stunted in size with entirely pale leaves and died before steeing seeds (PubMed:24794527)
Worms display a small body size, a reduced number of progeny, partial embryonic lethality and defective formation of the somatic gonad due to defects in import of proteins into mitochondria
Microaerobically grown cells show 38% decrease in cytochrome c oxadase complex activity. Between 0-5% nitrogen fixing activity of the nitrogenase in root nodules when in symbiosis with soybean
Accumulation of pentalenolactone D
Disruption causes slow growth, incomplete processing of 17S rRNA, accumulation of 30S and 50S subunits and decreased translational efficiency (PubMed:9226267, PubMed:23611982). Altered levels of ribosomal proteins in 30S subunits; uS2, uS3, uS14 and bS21 are severely depleted, uS5, uS7 and uS11 are decreased, distortion of rRNA helix 44 near the decoding center (PubMed:23611982). Slightly different results show ribosomal proteins uS2 and bS21 are not found in 30S subunits, decreased uS3, uS13 and uS14 in 30S subunits (PubMed:27382067). Deletion is partially suppressed by mutations in rpsM (uS13) (PubMed:9226267, PubMed:15496525), by a mutation in rpsS (uS19) (PubMed:15496525) and also by increased expression of RbfA (PubMed:9422595). Suppressors due to in-frame fusions with rpsP, the upstream gene for ribosomal protein bS16 have been isolated (PubMed:11514519). Suppression is probably due to increased expression of RimM; the fusion proteins are found in translationally active 70S ribosomes (PubMed:11514519)
Perinatal death, developmental overgrowth, cystic and dyplastic kidneys, abnormal lung development and ventral wall closure defects (PubMed:10402475, PubMed:10964473). A proportion of mutants also display mandibular hypoplasia and an imperforate vagina (PubMed:10402475). There is an early and persistent abnormality in ureteric bud development in the kidney due to increased cell proliferation (PubMed:10402475). In the developing kidney, cell proliferation is increased threefold in cortical collecting duct cells and apoptosis is increased 16-fold in medullary collecting duct cells (PubMed:11180950). High incidence of congenital cardiac malformations including ventricular septal defects, common atrioventricular canal, double outlet right ventricle and presence of coronary artery fistulas (PubMed:19733558). Elevated levels of hedgehog pathway proteins Gli1 and Ptc1, indicative of activation of the hedgehog pathway and increased levels of Shh (PubMed:18477453). Reduced non-canonical Wnt signaling (PubMed:15537637). Similar levels of tissue and serum Igf2 to wild-type mice (PubMed:10402475)
Mice have a marked decrease in peroxisome abundance. They share several phenotypes with Zellweger syndrome mouse models, including neuronal migration defects, hypotonia, a developmental delay, and neonatal lethality but no detectable defect in peroxisomal protein import and only mild defects in peroxisomal metabolic function
Mice with pancreatic specific deletion of Clec16a are significantly hyperglycemic and have reduced basal and blunted insulin release after glucose administration. Mutant mice have normal islet architecture and beta cell mass, but beta cells show accumulation of vacuolated structures and unhealthy mitochondria (rounded mitochondria with disordered and amorphous structure). Not associated with immune infiltration and insulitis
Reduced ethylene sensitivity
Impaired endocrine cell differentiation and accumulation of islet progenitor cells
Cells lacking this gene produce demycinosyl-tylosin
Produces phialides on which short deformed hypha are formed
Has very little effect on growth on nonfermentable carbon sources
Sensitive to high hydrostatic pressure (mechanical stress); simultaneous disruption of SCH9 exacerbates the effect
Reduced drought tolerance and hypersensitivity to salt stress, resulting in poor growth in normal soil
Precocious pollen germination within anthers. Hypersensitivity to abscisic acid (ABA) during seed germination. Elevated levels of Ins(1,4,5)P3 and cytosolic Ca(2+)
Loss of biotin biosynthesis
In knockout mice decreased number of Paneth cells in intestinal crypts, decreased proliferation and increased goblet cells in the intestinal villi (PubMed:30389919). Increased weight loss following intestinal wounding, increased inflammation, distorted tissue architecture, muscle thickening and greater crypt loss (PubMed:30389919). Delayed dermal wound repair (PubMed:23788729). SEPTIN4 and XIAP double knockout mice show delayed dermal wound repair and hair follicle regeneration, via increased apoptosis of hair follicle stem cells (PubMed:23788729)
Cells fail to undergo cytokinesis in suspension culture and show osmoregulation defects. Late development is impaired in mutants lacking clc which produce misshapen projections rather than a fruiting body. Mutants lacking clc showed a reduction in the ability of clathrin to assemble onto membrane, though assembly of clathrin heavy chain triskelions was unaffected
During spermatogenesis results in blockage of cell division preventing spermatocytes to enter meiosis and lack of spermatic individualization resulting in sterility (PubMed:30824860). In germlines, increases transposable elements transcription at both mRNA and protein levels (PubMed:26124316)
Plants show enhanced germination on salt and hypersensitivity to desiccation and LiCl
Mutant mice display defective T-cell development, resulting in notably fewer mature CD4(+) and CD8(+) cells in the thymus. The architecture of the thymus is altered, as characterized by smaller areas of the medulla. Mice also have fewer peripheral T-cells in spleen and display diminished T-cell antigen receptor (TCR)-mediated responses
No phenotype upon growth in liquid culture
Significantly decreases the production of dibenzodioxocinones by approximately 67% and significantly decreases the growth rate
Lethal when homozygous due to embryo abortion before the torpedo stage. Converts temperate oilseed composition (rich in unsaturated 18-carbon fatty acids) to that of a palm-like tropical oil (enriched in saturated 16-carbon fatty acids)
Compared to wild-type mice, mutant mice fed on a regular diet show a remarkable decrease in body weight, food intake, fat mass and plasma lipids (PubMed:31230984). Blunted response to Asprosin, including attenuated cAMP levels and hepatic glucose production, as well as improved insulin sensitivity (PubMed:31230984). Mutant mice show significantly reduced food intake in overnight-fasted mice compared with wild-type mice (PubMed:32337066). Male mice display decreased fertility caused by impaired sperm motility (PubMed:31798959)
Embryos develop normally, but their nerve terminals do not release transmitter in response to an action potential (PubMed:9482790). Spontaneous neurotransmitter release is reduced, but not abolished (PubMed:9482790, PubMed:10460261). Slow degeneration in adult photoreceptor neurons is also observed: defects are caused by an accumulation of endosomal vesicles, leading to transmembrane protein degradation defects and a secondary increase in autophagy (PubMed:22270918)
Deletion mutant does not grow on N-acetyl-D-galactosamine
A double cshB-cspD mutant grows slowly at 15 degrees Celsius
Flies prevent nerve endings from transforming to synaptic boutons: growth cones become constricted but remain within contact fields as thin processes that lack varicosities or boutons. Mutant embryos die at late stage, they are paralyzed and lacked the coordinated muscle peristalsis required for hatching
Embryonic lethal with few malformed larvae that develop to the L1 stage of larval development
Mice display greatly reduced lamellipodium formation in response to growth factor stimulation or aluminum fluoride treatment. Abnormal epithelial morphogenesis in vitro, and cooperation with oncogenic Ras to produce invasive carcinomas in vivo
Mutants are incapable of twitching motility (PubMed:10846211, PubMed:20345659). In addition, loss of FimV dramatically reduces the levels of the PilQ secretin multimer through which pili exit the cell (PubMed:21097635)
Confers sensitivity to dithiothreitol (DTT) and sorbate
Deletion leads to reduced levels of formate- or glycerol-dependent activity after anaerobic growth in the presence of nitrate
Leads to the accumulation of 4-methyl fecosterol and 4,4-dimethyl fecosterol (PubMed:25107308). Displays a dmoderate susceptibility to hypoxia and the endoplasmic reticulum stress-inducing agent DTT, but does not affect virulence in murine or insect models of invasive aspergillosis (PubMed:25107308)
No visible phenotype; due the redundancy with MNS1. Lack of complex N-glycans, shorter roots and increased lateral root formation in mns1 and mns2 double mutants
RNAi-mediated knockdown in the eye results in small rough eyes
Double deletion mutant FtsEX grows well on plates with LB medium with 1% NaCl forming healthy colonies at 30 degrees Celsius, whereas at 37 or 42 degrees Celsius, the colonies are very tiny and sick. In culture medium it exhibits mild elongation of cells at 30 degrees Celsius, and become very extensive at higher temperatures. This double mutant does not grow on LB culture medium without NaCl (LBON) at any temperature, possibly due to excessive lethal filamentation. Supplementation with any of a variety of osmolytes, such as glucose, sucrose, glycerol, or NaCl, completely rescues the growth on LBON medium. Though the growth is completely inhibited on LBON plates, the cultures grown in LBON broth show an initial increase in cell mass before the cessation of growth, and at this stage, the culture is extremely filamentous. The filaments grown in LB at 42 degrees Celsius or in LBON at 30 degrees Celsius are very long and appear to have elongated cells. They are normal and regularly spaced without any significant chromosomal aberrations or partition defects
A 3-fold increase in intracellular manganese levels
Several microtubules (MTs) defects, including hypersensitivity to oryzalin (a microtubule inhibitor), defects in cell division, abnormal cortical array organization, and impaired microtubule dynamicity, due to reduced tubulins levels (PubMed:19004800). Reduced levels of PIN2 at the plasma membrane (PubMed:29463731). The pfd5 pfd6 double mutant is less sensitive to gibberellic acid (GA)-mediated mobilization of PIN2 at the plasma membrane (PubMed:29463731). Lower pre-mRNA splicing events and reduced production of U6 snRNA in plants lacking PFD2, PFD4 and PFD6, probably due to a reduced activity of the LSM2-8 complex (PubMed:32396196)
Mice die at embryonic day 11.5 probably due to a defect in the fetal heart. They show strong defects in neuronal development and axonal outgrowth. Spinal cord motor neurons and interneurons failed to differentiate and migrate to their proper position. Nervous system-specific conditional PAK4 deletion mice display growth retardation and die prematurely
No visible phenotype under normal growth conditions (PubMed:19675148, PubMed:28585562). The triple mutant lrl1, lrl2 and lrl3 exhibit very short root hairs (PubMed:19675148)
Larval lethal (PubMed:27494403). Larvae die at the third-instar stage (PubMed:27494403). RNAi-mediated knockdown in the testes results in male sterility likely due to defects in primary spermatocyte nuclear integrity, meiotic chromosome condensation, segregation, and spindle morphology (PubMed:23788425). These defects lead to a failure to complete meiosis but several aspects of spermatid differentiation can still proceed, including axoneme formation and elongation (PubMed:23788425). RNAi-mediated knockdown in the developing wing or in the proliferating cells of the developing eye, reduces their organ size (PubMed:27494403). RNAi-mediated knockdown in larval neuroblasts results in chromatin undercondensation in metaphase chromosomes (PubMed:23788425). RNAi-mediated knockdown in differentiating eye cells does not result in an obvious phenotype (PubMed:27494403)
Reduces fertility (PubMed:30260959, PubMed:30567930). In larvae results in impaired climbing abilities and in multiple holes in the basal membrane surrounding the fat body adipose, the somatic muscles and the longitudinal and circular visceral muscles, affecting permeability and mechanical stability of the basement membrane (PubMed:30260959, PubMed:30567930). Impairs larvae movement including reduced crawling speed, smaller stride frequency and exploration area together with sudden motion defects in their crawling pattern, such as head shaking, and spontaneous rolling and bending (PubMed:30567930). Increases neuromuscular junction (NMJ) size including abnormal branching numbers, overall branch length and enhanced bouton density suggesting defective NMJ maturation (PubMed:30567930). Reduces reaction to vibrational stimuli with partial loss of alignment of sensory cilia and morphological defects of the larval peripheral nervous system (PubMed:30567930). Results in smaller pupae presenting an orientation shift of the pupal cases towards the horizontal axis (PubMed:30567930). Results in incompletely inflated wing blades in a small group of adults (PubMed:30567930)
Deletion of this gene affects intestinal colonization by E.coli, since a deletion mutant reaches a 1.2-log-lower cecal concentration than the wild-type
No visible phenotype; due to partial redundancy with BON1 and BON2. Bon2 and bon3 double mutant has no visible phenotype. bon1 and bon3 double mutant is seedling-lethal when grown at 22 degrees Celsius. Bon1, bon2 and bon3 triple mutant is seedling-lethal at any temperature
The amount of O-linked oligosaccharide chains in the erythrocyte membrane decreases to 60% compared to that of the wild-type mice. Erythrocytes lacking GPA are more sensitive to hypo-osmotic stress
Deletion leads to the loss of both chemotactic and phototactic responses. Mutants show increased methylation of the Htr transducer proteins
Seedlings with pale and weak cotyledons, characterized by disorganized veins. Impaired mRNA decapping and reduced P-bodies size. Altered transient seed storage proteins (SSPs) translational repression and degradation during seed germination
Not essential for cell division
Increased sensitivity to gamma-irradiation and to the cross-linking reagent cisplatin (PubMed:17227544). Reduced efficiency of somatic homologous recombination (HR) (PubMed:17227544, PubMed:16547115). Reduced synthesis-dependent strand annealing (SDSA) frequency (PubMed:22860689). Impaired geminiviral replication (e.g. tomato leaf curl virus (ToLCV)) (PubMed:22171001)
Lack of SFT2 is lethal in a strain lacking GOT1
Cells show impaired growth on arginine as the nitrogen source
RNAi-mediated knockdown is viable
Depletion of this protein leads to formation of large cells with a cragged cell surface, which are unable to establish a cell division plane
No longer inhibits growth of Salmonella in an overlay assay, suggesting it does not produce thailandamide
Minor effect on jasmonic acid response and no effect on glucosinolate biosynthesis. Myc2 and myc4 double mutant has an increased insensitivity to jasmonic acid. Myc2, myc3 and myc4 triple mutant has no jasmonate-related defense response, is devoid of glucosinolates and is extremely susceptible to generalist herbivores
Decreases virulence in A.thaliana and G.hirsutum
Results in dramatic reduction in MPA production and leads to the accumulation of DMMPA
RNAi-mediated knockdown mice have significantly lower density of dendritic filopodia and dendritic spines in embryonic hippocampal neurons. Lower density of excitatory synapses and significantly decreased dendritic spine to shaft ratio of F-actin in the later stages of neuron development. Aberrant neuronal migration in the cerebral cortex of developing mouse embryo. Neurons settle in the marginal zone (MZ) closer to the pial side and the corresponding percentage of neurons is decreased in the dense cortical plate (dCP), reflecting the overmigration of those neurons. Neurons in the upper cortical plate (UCP) result in a small but significant reduction in both the number of dendrites and average dendrite length. Neurons of embryonic brains show much lower levels of spines with the density of mushroom spines markedly decreased
Imbalances in cation homeostasis and severe reduction in fertility. Increased inhibition of primary root growth in low inorganic phosphate conditions
Cells fail to arrest in G1, cells remain budded and a significant fraction has a G2 DNA content. In such conditions, deletion mutants have a disorganized actin cytoskeleton and actin accumulates in one or two intensely staining clumps per cell. Deletion mutants also show defects in ion homeostasis and cell integrity. They fail to grow on medium containing 1.0 M NaCl, 5 mM caffeine or when incubated at 37 degrees Celsius. The caffeine and temperature sensitivity are rescued by supplementing the growth medium with 1.0 M sorbitol
Reduced rate of protein synthesis, although the polyribosome content is not affected. Enhanced sensitivity to caffeine and defective spore formation
Mice mainly display dwarfism associated with impairment of endochondral ossification, reduced growth of longitudinal vertebra and limb-bone. Self-clasping and priapism that could be due to neuronal disorder are detected. The development of the female reproductive organ is affected
Lethal at different developmental stages (PubMed:1427077). In late third instar larval brains, results in a complete absence of type II neuroblasts (NBs) and a reduction of type I NBs; after larval hatching, loss of neuroblasts in the ventral nerve cord and specific loss of type I neuroblasts within 48 hours; in the pupae, results in a premature loss of mushroom body NBs (PubMed:23056424, PubMed:21262215, PubMed:22357926). Escaper adult flies display weak motor activity, lethargic behavior, and shortened life span (PubMed:1427077). RNAi-mediated knockdown of the protein in type II neuroblasts lineage results in an increase in the number of type II neuroblasts (PubMed:28899667). Simultaneous RNAi-mediated knockdown of the ETS protein pnt or the transcriptional repressor Erm restores normal neuroblast numbers (PubMed:28899667)
Cells lacking this gene contain a greatly reduced amount of acetylated muropeptides in the bacterial PG, and are more susceptible to lysozyme killing than wild-type
Mice are viable and fertile. The ultrastructure of the intestinal brush border is normal. Show increase epithelial cell apoptosis and are more sensitive to extran sodium sulfate-induced colitis. Newborn mice inoculated with S.flexneri are not susceptible to infection; cell invasion and intestinal inflammation were not observed, even though bacteria were seen in large number in the intestinal lumen, close to the intestinal epithelial cells (IEC) brush border
Mice are viable although lifespan is severely reduced. An under-representation of mutant males suggests some prenatal lethality. Generalized and progressive myopathy starts at around 4 weeks of age with amyotrophy and accumulation of central nuclei in skeletal muscle fibers, leading to death at 6-14 weeks. Mutants also show mitochondrial disorganization and increased levels of desmin with abnormal desmin intermediate filament formation and architecture
Reduced fertility in males (PubMed:10781074). Testis weights and sperm production are normal but sperm motility is severely reduced (PubMed:10781074). A significant proportion of Prm2 remains unprocessed (PubMed:10781074, PubMed:15163613, PubMed:15189834, PubMed:15083521). Male mice lacking both Tnp1 and Tnp2 are completely infertile, but protamine alone are capable of histone eviction (PubMed:15163613, PubMed:15189834, PubMed:15083521). Chromatin in mature spermatozoa shows defects in density (PubMed:15189834, PubMed:15083521)
No visible motility phenotype. Disruption of this gene suppresses the reduced motility of a yhjH disruption, thus the double knockout is motile. Overexpression of this gene in a yhjH disruption has the converse effect, i.e. it reduces motility further
Loss of both maternal and zygotic expression causes variable lethality, ranging from arrest during embryonic development to soon after hatching, and sterility due to early germline defects. In these animals the germline precursor cells Z2 and Z3 are smaller, divide more slowly and their descendants remain small and indistinct compared to their wild-type counterparts. In addition, some of these animals show somatic defects, including a protruding vulva, multiple vulvae or a reduction in animal size. In zygotic mutant adult hermaphrodites, most spermatogenic cells are blocked as primary spermatocytes, the number of spermatocytes appears lower than normal and spermatogenesis is delayed by several hours. Zygotic mutant homozygous adult males produce some spermatogenic cells, although these sperm are less well defined morphologically than normal. In addition, loss of maternal and zygotic expression results in adult males that produce enlarged granular cells that appear oocyte-like and show chromosomal bivalents typical of oocytes. In zygotic mutants the mitotic region is longer and has more nuclei than normal, the mitotic region/TZ boundary is shifted from 20 to an average of 27 or 28 nuclei and the boundaries between mitotic region and TZ and TZ and pachytene region are not sharp as in wild-type. RNAi-mediated knockdown leads to a shorter polyadenylation tail in neg-1 mRNA in embryos (PubMed:26096734)
No visible phenotype. Loss of O-acetylated xyloglucan oligosaccharides in seeds, but no effect on xyloglucan O-acetylation in roots and rosette leaves
Lacks queuosine in tRNA(Asp)
Reduced floral volatile benzenoids and phenylpropanoids (FVBP) emission
Shows a significantly reduced endogenous cAMP level. Results in the reduction of hyphal growth and sporulation, and an increase in the sensitivity to various stresses. Attenuates virulence on the plant host by impairing appressorium-mediated penetration and invasive growth
Severe developmental defects and early lethality
Slight decrease in virulence in male BALB/c mice
No visible phenotype under normal growth conditions, but mutant plants are insensitive to inhibition of root elongation by ethylene
When this gene is missing the Gabija type I system does not confer resistance to SpBeta in B.subtilis
No impact on growth with fumarate, but greatly impaired in the ability to reduce Fe(3+)
Does not affect the susceptibility to amphotericin B, itraconazole, fluconazole, voriconazole, and ketoconazole (PubMed:16436696). Leads to the accumulation of the non-C-5 desaturated sterols 24-methylcholesta-7,22-dien-3beta-ol, 24-methylcholesta-7,22,24(28)-trien-3beta-ol, and 24-methylcholesta-7,24(28)-dien-3beta-ol (PubMed:16436696, PubMed:18191972)
Knockout enhances eNOS-dependent arterial relaxation in blood vessels (PubMed:20610415). Treating the endothelial lining with THBS1 inhibits ACh-stimulated vasorelaxation (PubMed:20610415). Mean arterial pressure (MAP) is significantly decreased following ACh treatment (PubMed:20610415). Enhanced survival of full-thickness skin grafts, with increased numbers of functional vessels in wound beds (PubMed:18156939). Significant increase in proliferating cell nuclear antigen (PCNA) in middle-aged (8- to 10-month-old) lungs (PubMed:29042481). Increases in abundance of other senescence-associated markers in middle-aged lungs, including TP53/p53 and CDKN1A/p21cip, decrease in RB1, and no change in CDKN2A/p16INK4A (PubMed:29042481). Reduces weight gain in animals fed on a high-carbohydrate and low-fat diet (HCLFD), or a high-fat diet (HFD); mainly due to reduced adiposity, and yet does not affect food intake and energy expenditure (PubMed:23757408). Insulin level and estimated insulin resistance are both reduced on either HFD or HCLFD, and free fatty-acids (FFA) and triglyceride levels are both increased (PubMed:23757408). Plasma leptin levels are reduced in animals fed the HCLFD but not in animals fed the HFD (PubMed:23757408). No significant difference in adipocyte size, nor vascular density in adipose tissue (PubMed:23757408). Reduced macrophage infiltration in adipose tissue in animals fed HCLFD (PubMed:23757408). Reduced mRNA expression levels of TNF-alpha, type I collagen COL1A1, and TGF-beta 1 in adipose tissue in animals fed HCLFD (PubMed:23757408). Markers of podocyte function, such as WT1, nephrin and synaptopodin are decreased in obese wild type, but these changes are attenuated in obese knockout animals (PubMed:25835637). Fewer apoptotic cells and reduced levels of active caspase 3 in glomeruli (PubMed:25835637)
RNAi-mediated knockdown causes a severe reduction in phosphoglycerate mutase activity and reduces the growth of the procyclic form of the parasite
Non-essential, no visible growth phenotype in ambient air or 2% CO(2), no change in RuBisCO assembly or activity (PubMed:17071623). Non-essential, has a reduced growth rate in 5% CO(2), about 2-fold higher amounts of RbcL accumulate. Cells have fewer, larger carboxysomes, their positioning is often abnormal (PubMed:30389782). A double raf1-rbcX deletion partially recovers carboxysome formation compared to the raf1 deletion alone (PubMed:32636267)
Complete loss of the ability to grow on erythritol or on L-threitol
Mice are born at the expected Mendelian rate, but fail to thrive, resulting in much reduced adult body weight and dwarfing. They exhibit shortening of long bones, irregular growth of flat bones and a shortened snout. Young mice show shortened growth plates in long bones and impaired chondrocyte proliferation. Likewise, cultured fibroblasts from mutant mice show reduced proliferation
Decreased dipeptide uptake in bone marrow (PubMed:29784761). Decreased cytokine expression in response to LPS stimulation (PubMed:29784761)
Deficient mice are viable and fertile however absence of HAS3 increases the excitability of neural networks and drives the formation of epileptic seizures
Cells lacking this gene appear to be compromised in their ability to synthesize isoleucine. Mutation results in the partial block of at least one step in isoleucine biosynthesis subsequent to the reaction catalyzed by threonine deaminase (IlvA). Mutation is required for the dependence of the PurF-independent alternative pyrimidine biosynthesis (APB) pathway of thiamine upon the oxidative pentose phosphate pathway
Cells lacking this gene are still able to convert dimethyl sulfide (DMS) to dimethyl sulfone (DMSO2) under sulfate limitation, suggesting that the conversion of dimethyl sulfone (DMSO2) to methanesulfonate (MSA) is interrupted in this mutant
Male mice are viable, fertile and show normal T-cell function
No visible phenotype; probably due to redundancy with RFLNB. RFLNA and RFLNB double mutant mice exhibit severe skeletal malformations, as characterized by scoliosis, kyphosis, intervertebral disks defects, vertebral fusion in the spine and longitudinal bone growth retardation. Chondrocyte maturation is accelerated in double mutant mice
Knockout mice exhibit no visible phenotype (PubMed:31435016). Mutant mice are slightly more sensitive to the ischaemia-reperfusion protocol (PubMed:31435016)
Reduced response to the inhibitory action of emodepside in pharyngeal pumping
Disruption of the maternal allele results in overgrowth of both the embryo and placenta such that mutant mice are at birth about 30% larger than normal. This effect occurs during embryogenesis and results in addition in disproportionate overgrowth of the liver with relative sparing of the brain. The major part of the growth phenotype seems to be IGF2-independent
In mice obesity is associated with hyperleptinemia and resistance to the anorectic and weight-reducing effects of leptinan mice are resistant to the metabolic actions of leptin
Abnormal stigma binding and male sterility. Abnormal pollen exine which is thinner, weaker, and missing some connections between their roof-like tectum structures. Content modification of a broad range of metabolic compounds, such as nonacosane and naringenin chalcone
Partial loss of Obg-controlled persistence
Mice are runted and ataxic, the cerebellum is underdeveloped, and the vermis is severely reduced, resulting in diminished proliferation by granule cell precursors in the external germinal layer, especially near the midline, and abnormal differentiation and migration of ventricular zone-derived neurons and Bergmann glia. In the remaining cerebellar structures, the Purkinje cells are poorly developed and mislocalized
Differentiation of multiple gametic cells able to initiate gametogenesis. Abnormally enlarged sub-epidermal cells in developing ovules
Additional long branches in tassels and abnormal long branches at their bases in ears. Abnormal identity of axillary meristems
Knockout animals show abnormal mitochondrial morphology. Mutant worms display developmental delay, with almost none reaching the young adult state
Mutants are deficient in chemotaxis toward malate and casamino acids. Mutation does not affect biofilm formation
Loss of N-acylation of apolipoproteins
Decreases HTA1 RNA level
Albino leaves with little, if any, plastid rRNA
Embryonic lethality (PubMed:29463724). Heterozygous mutants produce some yellowish seeds with developmentally retarded or abnormally shaped embryos. Conditional dexamethasone (DEX)-inducible mutants exhibit abnormal root morphology (PubMed:29463724)
Abolishes the expression of all the 7 aspergillic acid biosynthesis cluster genes and reduces ferriaspergillin production (PubMed:29674152)
Worms exhibit a weak egg-laying constitutive (Egl-c) phenotype and slow irregular pharyngeal pumping
Cells have a reduced pyruvate oxidase activity and a reduced growth rate. Cells lack CadA activity (lysine decarboxylase)
Cells are named mutant biofilms and do not disperse upon induction of the dispersion by succinate, silver nitrate, mercury chloride or sodium arsenate. They are resistant to hydrogen peroxide and more hydrophobic. They show higher intracellular levels of c-di-GMP (5- to 6-fold higher than in wild-type), increased adherent properties and impaired twitching motility. They display smaller, densely packed and symmetrical microcolonies
RNAi-mediated knockdown causes an increase in fat-5 gene expression in the pharynx (PubMed:16777607). Pharynx unattached (Pun) phenotype (PubMed:16777607)
Increased number and reduced size of P granules (pgl-3-positive and lgg-1-positive) and sqst-1-positive protein aggregates in embryos (PubMed:20550938). RNAi-mediated knockdown results in increased lgg-2-positive autophagosomes following fertilization and at later embryonic stages (PubMed:24374177)
Leads to cold and freeze sensitivity
Cells lacking this gene are unable to express the mimABCD operon
Knockout mice die within a month and show atrophy of the cerebral cortex and hippocampus. Embryos at 18.5 dpc have a forebrain smaller in size and show disordered cortical lamination and delayed neuronal migration in the cortex (PubMed:23097495, PubMed:23472195). Mice with conditional knockout in hepatocyte develop hepatic steatosis spontaneously, and hepatic fibrosis on high fat diet feeding (PubMed:32253259)
Deletion mutant is more resistant to methylglyoxal than wild-type strain
Male infertility with severe defects in sperm head formation and globozoospermia-like phenotype
Confers sensitivity to the synthetic tripeptide arsenical 4-(N-(S-glutathionylacetyl)amino) phenylarsenoxide (GSAO)
Cells lacking CHAF1A show delayed S-phase progression with retarded DNA synthesis and defects in a rapid nucleosome formation of newly replicated DNA
Multivulva phenotype in combination with loss of function of class A synMuv genes lin-8, lin-38, lin-56 and lin15A and with the class B synMuv gene hpl-2. Reduction of brood size and defects in the development of germ cells. Loss of function results in suppression of mat-3(ku233) mutant vulval phenotype
Mice exhibit exencephaly, poorly developed eyes and preaxial polydactyly, due to defects in ventral patterning
Conditional seedling-lethal phenotype due to the unability of the seeds to break down storage oil to provide carbon skeletons and energy for early seedling growth
Females are sterile, and maturing follicles show defects in actin filament formation, nurse cell membrane stability and border cell migration
No visible phenotype during the first few months. Impaired transition from proliferating neonatal hepatocytes to quiescent adult hepatocytes. Hepatocytes continue to proliferate throughout adulthood. High incidence hypertrophic hepatocytes with enlarged nuclei after three months. After nine months, about half of the mice have hepatocellular adenomas. Very high incidence of hepatocarcinoma in 13 to 29 month old mice, increasing from 40% to 80%. When one copy of Rara is disrupted, mice do not develop liver tumors or liver dysplasia
Defects cause some indirect sensitivity to photosensitizers, due to the inability to synthesize pyridoxal 5'-phosphate. Indeed, pyridoxal 5'-phosphate quenches singlet oxygen at a rate comparable to that of vitamins C and E
No visible phenotype; due to the redundancy with CYP714A1. Cyp714a1 and cyp714a2 double mutants flower earlier and have an increased plant size and biomass
Inactivation of this gene results in a dramatic reduction in the amounts of 6-O-methylglucosyl lipopolysaccharides (MGLP) synthesized and in the accumulation of precursors of these molecules. Cells lacking this gene do not grow at high temperature (42 degrees Celsius) in Sauton's medium, although their growth is comparable to that of wild-type at 30 and 37 degrees Celsius in this medium
Normal magnetic response, slightly smaller, sometime scattered magnetosomes (PubMed:24816605). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Completely abolishes the production of patulin and leads to the production of a distinct dark-red pigment
Embryonically lethal. Embryos die at about 10 dpc, due to defects in the development of myocardial trabeculae in the heart ventricle that lead to severely reduced embryonic blood flow. Mice also display aberrant innervation from and to the hindbrain, especially concerning the trigeminal, facial and acoustic ganglia. This is due to aberrant migration of a subpopulation of cranial neural crest cells
Results in a severe conidiation defect with reduced sporulation (PubMed:23264641)
Conditional knockout in liver lead to no 10% reduction of glucose levels after 4 h fasting with an improvement of glucose tolerance and an increased insulin sensitivity
Deletion mutants can no longer assemble into the pillar-like structure
Cells exhibit normal growth rates and a slight cytokinesis defect. When placed in starvation conditions these cells appear to aggregate into mounds and form fingers with normal timing; however, they are delayed or arrested in the finger stage. When placed in water the cells forme unusually large contractile vacuoles, indicating a defect in contractile vacuole function
Cells are shorter in a single mutant, double envC-nlpD disruptions have defects in septation and cell separation and form long filaments (8-fold longer). Cell length increase is more exacerbated with a triple mepM (yebA) or ygeR disruption (15-fold longer) and further yet by the quadruple disruption mutant (envC-nlpD-mepM(yebA)-ygeR, over 21-fold longer). Quadruple mutants are less sensitive to ampicillin lysis
Females are sterile
Exhibits a defect in the metabolism that converts phytosphingosine to glycerophospholipids (PubMed:25345524). Leads to sensitivity to tunicamycin (PubMed:30530523)
No visible phenotype under normal growth conditions, but the double mutants cyclase1 and cyclase2 are embryonic lethal
Mutant mice with an internal in-frame deletion of exon 22 exhibit early embryonic lethality (PubMed:19255246). Mutant mice with a conditional internal in-frame deletion of exon 22 show embryonic lethality and display inhibition of primary embryonic fibroblast proliferation that display mitotic centrosome-spindle coupling, microtubule-focusing at the spindle poles and equatorial metaphase chromosome alignement defects (PubMed:19255246). Mutant mice with a conditional internal in-frame deletion of exon 22 in the embryonic epidermis show neonatal lethality and display perturbation of epidermis differentiation characterized by increased suprabasal cell divisions and mitotic spindle orientation defects (PubMed:26765568). Adult mutant mice with a conditional internal in-frame deletion of exon 22 in interfollicular and hair follicles display an almost complete absence of hair regrowth and mitotic spindle orientation defects in hair follicle matrix cells (PubMed:26765568)
Homozygous knockout mice have a normal life span and do not show obvious abnormalities or major alterations in total ceramide levels in tissues (PubMed:16380386). However, they are deficient in the intestinal digestion of dietary ceramides (PubMed:16380386). A decrease in total ceramides in liver is also observed (PubMed:21613224)
Leads to significant decrease in the transcript levels of the genes for early (aflC and aflD), middle (aflM) and later (aflP) steps in the aflatoxin biosynthetic pathway (PubMed:12655397)
Roots and hypocotyls reorient slowly upon gravistimulation. Plants are normal for phototropism and for responses to hormones such as auxin, abscisic acid, gibberellins and ethylene. They also accumulate starch like the wild-type. In response to gravistimulation arg1-2 lacks cytoplasmic pH changes in columella cells and has a bad repartition of auxin that accumulates in root tips instead of forming a gradient
Impairs the ability to metabolize cellular polyol phosphates which may build up to toxic levels in cells
Abnormal pollen wall with the absence of the nexine and intine layers causing microspore abortion and male sterility
Embryonic lethality at about 10.5 dpc, due to gross developmental defects, including defects of neural tube closure, craniofacial defects and defects in heart development. Embryos can be rescued by maternal folate supplementation
Hemizygous knockout males were born at 19.5 dpc and died within a half day (PubMed:12379852). Neonatal males have small brains, small olfactory bulbs, small testes, hypoplasia of the seminal vesicle and abnormally enlarged seminiferous tubules (PubMed:12379852). Abnormal morphology in each of the developing brain regions in which ARX is normally expressed (PubMed:12379852). Suppressed proliferation and nearly normal migration of neuroepithelial cells in the neocortex (PubMed:12379852). Aberrant formation of many nerve fiber tracts at 19.5 dpc (PubMed:12379852). Abnormal primary migration of GABAergic interneurons from the ganglionic eminence (PubMed:12379852). Abolished expression of wingless-related WNT8B and LIM homeobox protein LHX9 in the thalamic eminence at 12.5 dpc, and decreased expression of DLX1 in the ventral thalamus at 12.5 dpc (PubMed:12379852). Testes have a dysplastic interstitium, probably owing to a considerable decrease in cells containing an abundant cytoplasm as the interstitium is occupied predominantly by fibroblast-like cells (PubMed:12379852). Expression of Leydig cell marker HSD3B1 is severely diminished in the interstitial region of testes, suggesting that Leydig cell differentiation is blocked (PubMed:12379852). Expression of KDM5C is reduced at both mRNA and protein levels (PubMed:31691806). Increased expression of SYN1, SCN2A and some isoforms of BDNF (PubMed:31691806)
Forms multiple, contiguous heterocysts with abnormal short spacing between heterocysts on nitrogen-containing medium. These heterocysts do not have nitrogenase activity (PubMed:9794762, PubMed:11274121). In nitrogen-free medium nearly normal heterocyst patterns are established after 4 days growth (PubMed:11274121)
No gross morphological defects. Mitochondria are slightly elongated
Loss of correct coprocessing of pre-crRNA and tracrRNA. Loss of immunity against a plasmid with homology to CRISPR spacer sequences
Cells destined to become spores end up as stalk cells
Defective sperm migration from the uterus into the oviduct and defective binding to the zona pellucida
Increased size of rosette leaves, increased plant height, increased number of floral buds and increased length of siliques
Mice show gastrulation defects in which mesoderm migration is defective due to deficiency in E-cadherin protein down-regulation in the primitive streak. A weaker mutation named droopy eye (drey), which affects splicing causes incompletely penetrant defects in neural tube closure, eye development and gastrulation
RNAi-mediated knockdown in oocytes results in spindle defects
RNAi-mediated knockdown extends mean lifespan and reduces expression of bcat-1 by >50%
Deletion of the gene leads to a complete loss of arsenate resistance, but does not affect arsenite or antimony resistance
No visible phenotype (PubMed:24036508). Short-root-hair phenotype (PubMed:25944827). Hpat1 hpat2 double mutants have longer hypocotyls, are early flowering and show early senescence in leaves associated with a decrease in chlorophyll content (PubMed:24036508). Hpat1 hpat3 double mutants have an impaired growth of pollen tubes, thereby causing a transmisson defect through the male gametophyte (PubMed:24036508). Hpat1 hpat2 hpat3 triple mutants fail to produce detectable levels of Hyp-arabinosides, have low fertility and shorter pollen tubes (PubMed:26577059)
Leads to high frequency phenotypic switching, spontaneous hyphal growth, and decreased replicative lifespan. Shows also oxidatively damaged proteins even distribution between mother and daughter cells during division
Morpholino knockdown of the protein causes a dramatic loss of cilia in Kupffer's vesicle
Homozygous mice lacking Tent5a have slightly decreased survival, probably due to perinatal or embryonic lethality, since the effect is already visible at postnatal day 6 (P6). Mutant mice have an abnormal posture with frequent kyphosis and a wavy tail. Mutant mice exhibit frequent bone fractures and newborn mice reveal rib fractures. Adult mutant mice show decreased cartilage ossification of the tail
Retarded growth and hypersensitivity to copper deprivation
Aberrant circadian rhythms
Mice show a reduced number of mucus granules, a deficiency of granule docking with the apical plasma membrane in the gastric-surface mucus cells and reduction of mucus secretion by gastric primary cells
Larvae are viable but most do not survive the late pupa/early adult stages. Surviving adults that are assisted to eclose display severe degeneration of myofibrils and mitochondria
Mutants show no detectable levels of 2,4-dihydroxyquinoline (DHQ) or other quinolines
No visible phenotype, but increased glutamate levels and decreased GABA levels in the roots, and loss of GABA accumulation upon heat stress
Heat-sensitive phenotype (PubMed:20521085). Reduced expression of SGIP1 (PubMed:30778176)
RNAi-mediated knockdown results in reduced microtubule growth rate
Hypersensitivity to high light and rose bengal
Homozygotes are viable and fertile, display no obvious abnormalities in the development of the CNS, PNS or muscles. However, they exhibit highly specific defects in the innervation pattern of muscle 12, but no obvious defects in the innervation of other muscles. Both loss and gain of function mutants display altered neuromuscular specificity
Does not affect the production of astellolides
Mice display delayed pre- and postnatal development, defects in germ-cell development, and increase incidence of microphthalmia and tumors of epithelial cell origin
Deficient mice display reduced dietary cholesterol absorption
Deletion of the gene completely abolishes the formation of both Dha and pyochelin and results in salicylate accumulation
Half of the embryos die by 18.5 dpc, and neonates die within an hour. Mutants display defective B-lymphopoiesis, defective myelopoiesis in the bone marrow but not in the liver, and defective formation of the heart ventricular septum
Impaired leaf flattening and slight epinasty when grown under blue light
Pleiotropic phenotype with defects in cotyledon, leaf, flower and seed development, slow growth, severe epidermal defects, including loss of cell adhesion, outgrowth of cells and increased cotyledon cell size
Deficient mice display increased urinary excretion of citrate, alpha-ketoglutarate, fumarate, and malate and a modest increase in succinate. Despite the increased excretion, there is no significant change in plasma citrate concentration. No other phenotypic change is identified in these mice. Transporter deficiency do not affect renal function under normal physiological conditions, nor to response to renal injury
Knockout mice are viable, fertile with no overt physiological abnormalities. Knockout mice show an impaired uptake of serotonin and dopamine in choroid plexus
No visible phenotype under normal growth conditions, but mutant plants are hypersensitive to drought stress
Deficient mice are viable and fertile and exhibit normal Mendelian segregation, however deficient mice exhibit increased LPS-induced mortality. TLR-mediated pro-inflammatory signaling are increased in embryonic fibroblasts and macrophages from Gpr108 deficient mice (PubMed:30332431). Depending on the AAV serotype used, 10-fold to 100-fold reduced expression for AAV is observed in Gpr108 knockout mice following retro-orbital administration (PubMed:31784416)
Results in centrosome amplification and lethality. Cells become polyploid or undergo apoptosis. Embryos are no longer detected after 3.5 dpc
No visible phenotype under normal growth conditions, but mutant plants have increased susceptibility to oxidative stress-induced cell death and accelerated cell death in aging plants
Postnatal lethality, probably due to the absence of ciliated cells from the entire airway epithelium and the epithelium of the submucosal glands in the paranasal sinuses. In the nasal epithelium, ciliated cells are replaced by columnar secretory cells that produce mucin-like substances. In the proximal lung, reduction in club cells is also observed. The combination of no ciliated cells and excess mucous cells leads for the chronic rhinitis and increased susceptibility to opportunistic infections that cause lethality
Not essential for growth on minimal medium
Produces 65 to 75% nonmethylated and 25 to 35% methylated GlcCers. Exhibits severe growth defects and produces abnormal conidia. Also exhibits drastically reduced disease symptoms in wheat and much-delayed disease symptoms in Arabidopsis thaliana. A double-knockout with its paralog MT1 is not viable
Mice exhibit an altered circadian metabolism and feeding schedule, eating more and utilizing more carbohydrates as fuel during their nocturnal/sleep period (PubMed:29723273). Increased expression of circadian clock core genes and genes involved in lipid metabolism and fatty-acid oxidation in the skeletal muscle (PubMed:29723273). Mice exhibit decreased wakefulness and increased slow-wave sleep and rapid eye movement sleep during the dark phase (active period) (PubMed:29355503). Altered expression in the brain of core circadian clock genes and genes involved in sleep induction and wakefulness (PubMed:29355503). Conditional knockout of both NR1D1 and NR1D2 in bronchiolar epithelial cells abolished diurnal rhythmicity of PER2 in the bronchioles and increased inflammatory responses and chemokine activation (PubMed:29533925)
Cells lacking this gene do not grow anaerobically with DMSO and do not show DMSO reductase activity although dmsA transcript is present, indicating lack of maturation of the DmsA apoprotein into the MoCo-holoprotein. Their growth in the presence of oxygen is not affected. Disruption of this gene does not affect the formation of SAMP-protein conjugates
Does not affect aerobic growth on L-ascorbate
Cells are less-polarized than wild-type and are unable to properly regulate the direction of pseudopod formation, resulting in a reduction in the distance traveled in response to chemoattractant
Mutant mice are born at the expected Mendelian ratio, thrive and are fertile (PubMed:7542548). Mutant mice display normal differentiation and expansion of pro-B cells, pre-B cells, immature B cells and resting mature B cells in bone marrow (PubMed:7542548, PubMed:7543183, PubMed:9317126). Number and surface phenotype of conventional B cells in spleen, Peyer's patch and lymph nodes appear normal (PubMed:7543183). In contrast, the numbers of B-1 cells are decreased to 10-20% of the normal values in the peritoneal cavity, together with a severe reduction of serum IgM levels (PubMed:7542548, PubMed:7543183, PubMed:12387743). Likewise, mutant mice display severely reduced serum IgG1 and IgE levels (PubMed:7543183). Mutant mice display severely reduced B cell responses to antigens, with a strong decrease in the production of serum antibodies after an antigenic challenge, and defective production of high-affinity antibodies (PubMed:7543183)
Increases association between GRX5 and SSQ1 (PubMed:23615440). Inviable vegetative cell population growth (PubMed:26545917)
Mice were born with normal Mendelian ratio without developmental defects (PubMed:28655767, PubMed:32923617). However, male show a significant reduction in body weight over time due to reduced energy expenditure (PubMed:32923617). Cells show reduced N(3)-methylcytidine modification in tRNA fractions (PubMed:28655767)
No visible phenotype. However mice exhibit progressive and simultaneous degeneration of rod and cone photoreceptors (PubMed:29440555)
Enhanced susceptibility to geminivirus infection
RNAi-mediated knockdown results in reduced monomethyl branched-chain fatty acid generation and also results in larval arrest in the subsequent generation
Deletion mutant cells display reduced 5-methoxycarbonylmethoxyuridine (mcmo5U) formation in tRNA(Ala1), tRNA(Ser1) and tRNA(Thr4) (PubMed:31253794). Reduced 5-carboxymethoxyuridine (cmo5U) formation in tRNA(Val1) (PubMed:31253794). Strongly reduced cmo5U formation in tRNA(Leu3) and tRNA(Pro3) (PubMed:31253794). Cells lacking both trhP and trhO show complete absence of 5-carboxymethoxyuridine (cmo5U) modification in tRNAs; cells display a temperature-sensitive phenotype and decode codons ending in G (GCG and UCG) less efficiently than the wild-type strain (PubMed:31253794)
No visible phenotype, due the redundancy with IPT9
Essential for growth, it cannot be disrupted (PubMed:16768798). A double mqsR-mqsA deletion leads to increased rpoS mRNA levels, resulting in increased cyclic-di-GMP levels, increasing stress resistance, increased biofilm formation (PubMed:21516113). The double mutant has increased metabolism and respiration in the presence of the bile acid deoxycholate and consequently grows less well. Decreases cell survival in the presence of 20% deoxycholate (PubMed:25534751)
Deletion mutant cannot grow in the presence of various antibiotics, including chloramphenicol, novobiocin and polymyxin B
Mice exhibit small brains, ataxia, reduced seizure threshold, growth failure, and postnatal premature death. Show excessive apoptosis in central nervous system. Lacks nuclei of the lateral and basolateral amygdala. Organization of cortical neurons into barrel structures is disrupted; thalamocortical axon terminals fail to segregate in the somatosensory cortex
Defects in chromosome segregation, but does not affect the mitotic spindle
Mutants lay fewer eggs
Plants show a severe dwarf phenotype. In bin4 mutants, a specific DNA damage repair checkpoint is activated preventing further progression of endoreplication cycles
Progressive degeneration and functional deterioration of both cone and rod photoreceptors associated with impaired morphogenesis of the disks and OS
Loss of formate-inducible expression of the hyf operon (PubMed:12426353)
Leads to enhanced sensitivity to both cysteine and sulfite
Mice lacking Ap4b1 are fertile, have no overt anatomical abnormalities and have normal life spans. They only show a significantly poorer rotorod performance than wild-type mice. No significant differences in body weight or grip power is observed compared to wild-type mice. The cerebella has normal foliation and a normal laminated cortical structure. Main neuronal types are present in the cerebella and the gross morphology of the soma and dendrites of Purkinje cells is normal
Partially blind to far-red (FR). Impaired inhibition of hypocotyl elongation and cotyledons expansion under continuous FR light conditions (PubMed:19482971, PubMed:16045472). In plants lacking FHY1 and FHL, altered phototropism (e.g. phototropic bending) associated with abnormal consitutive cytosolic localization of PHYA (PubMed:22374392, PubMed:17566111). In the double mutant fhl fhy1 several PHYA-dependent phototropic responses are altered (e.g. hypocotyl elongation and cotyledon opening under high-irradiance conditions and seed germination under very-low-fluence conditions), but not for some PHYA-dependent responses such as the abrogation of negative gravitropism in blue light and red-enhanced phototropism (PubMed:17566111). Hyposensitivity to blue light (B) (PubMed:16045472)
Does not affect virulence
Decreased level of pseudouridylated mRNAs
Mice are born at the expected Mendelian rate. They display decreased cholesterol levels, but strongly increased levels of the food-derived plant sterols campesterol and beta-sitosterol in blood plasma, liver and spleen (PubMed:25378657). Besides, mutant mice may have slightly increased total plasma triglyceride levels. Expression of Abcg5 is not affected. Mutant mice display decreased biliary sterol secretion (PubMed:15040800). Mice deficient for both Abcg5 and Abcg8 appear healthy and are fertile, but display strongly increased levels of the food-derived plant sterols sitosterol and campesterol in liver and blood plasma (PubMed:12444248, PubMed:14657202, PubMed:25378657). When mice are fed chow containing 0.02% cholesterol, cholesterol levels in blood plasma and in liver are considerably lower than in wild-type (PubMed:12444248, PubMed:14657202). In spite of the increased plasma and liver levels of plant sterols, and the decreased cholesterol levels, the total sterol levels in plasma and liver are closely similar in wild-type and mutant mice (PubMed:14657202). When mice are fed chow containing 2% cholesterol, plasma cholesterol levels remain stable in wild-type, but increase 2.4-fold in mutant mice. In the liver of mice kept on chow containing 2% cholesterol, cholesterol levels increase 3-fold for wild-type mice and 18-fold for mutant mice, resulting in much higher cholesterol levels than in wild-type livers (PubMed:12444248). Dietary cholesterol absorption appears normal in mutant mice, but the absorption of dietary cholestanol, campesterol and sitosterol is increased (PubMed:12444248). At the same time, mutant mice have very low cholesterol levels in bile, suggesting that the increased hepatic cholesterol levels are due to impaired cholesterol secretion into bile (PubMed:12444248). Likewise, the levels of the food-derived plant sterols stigmasterol, sitosterol, campesterol and brassicasterol are strongly decreased in bile from mutant mice (PubMed:14657202). In contrast, biliary phospholipid and bile acid levels appear unchanged relative to wild-type (PubMed:12444248). The blood plasma of mice with liver-specific or intestine-specific disruption of Abcg5 and Abcg8 has nearly normal levels of cholesterol, and mildly increased levels of sitosterol and campesterol (PubMed:25378657). Mice with intestine-specific disruption of Abcg5 and Abcg8 have strongly increased levels of sitosterol and campesterol in enterocytes, similar to that observed for mice with complete gene disruption (PubMed:25378657). In addition, they display strongly increased levels of sitosterol and campesterol in bile (PubMed:25378657). Mice with liver-specific disruption of Abcg5 and Abcg8 have slightly increased levels of campesterol and sitosterol in the liver, and normal, low levels of sitosterol and campesterol in bile (PubMed:25378657). Enterocytes and liver from mice with liver-specific or intestine-specific disruption of Abcg5 and Abcg8 have normal cholesterol levels (PubMed:25378657)
10 percent of animals are arrested at the larval stage. Defects in the grinder of the pharynx result in reduced pharyngeal pumping rates and a slower growth. In a nas-7 (hd116) mutant background, growth is further reduced
Deletion of the gene abolishes SZN production (PubMed:30728519, PubMed:30763082). Mutant accumulates L-NMA (PubMed:30728519)
Semiglossy stem. Elevated drought tolerance and reduced transpiration rate. Elevated amounts of 18-carbon-length cutin monomers and shift in the cuticular wax profile toward the very-long-chain free fatty acids tetracosanoic acid (C24) and hexacosanoic acid (C26)
Show spatially and temporally unregulated Ras activity causing cytokinesis and chemotaxis defects
RNAi-mediated knockdown causes an arrest at the L2-L3 larval stages with few adults reaching adulthood. Abnormal presence of vacuoles in the intestine with some intestinal sections almost completely degraded. RNAi-mediated knockdown in a ced-3 (n718) or ced-4 (n1416) mutant background causes a similar arrest at the L2-L3 larval stages
Cells lacking this gene result in a significant increase in the expression of mce3 either in vitro or in a murine cell macrophages line
Cells lacking this gene fail to grow on maltose
No visible phenotype under normal growth conditions, but mutant plants have altered response to long-term high-light acclimation conditions compared to wild-type
Completely abolishes the production of asperphenamate
Virtually eliminates the production of all pathway metabolites, including fumiformamide, melanocin E, melanocin F, but also the sulfated xanthocillin derivative BU-4704 and xanthocillin X monomethyl ether
RNAi-mediated knockdown in a glp-1 (ar202) constitutively active mutant background restores fertility
Mutant animals are egg-laying defective and exhibit a reduced brood size and high embryonic lethality (PubMed:15798199, PubMed:18779660). Impaired formation of rad-51 foci and accumulation of rpa-1 foci in the meiotic region of the germline in mutants either untreated or treated with ionizing radiation (IR), indicating impaired DNA double strand break repair by homologous recombination (PubMed:15798199, PubMed:18779660). Decompaction of chromatin, chromosome aggregation and aberrant number of bivalent chromosomes during meiosis (PubMed:15798199, PubMed:18779660). In a telomerase trt-1 mutant background, RNAi-mediated knockdown leads to telomere shortening in early generations, to telomere elongation in late generations and to a delay in generational replicative senescence (PubMed:27761361)
Disruption of the gene decreases uptake of cystine (PubMed:25837721). The mutant cannot grow on S-sulfocysteine (PubMed:27481704). The tcyP-tcyJ double mutant is unable to import cystine (PubMed:26350134, PubMed:27481704). The tcyP-tcyL double mutant cannot grow in the minimal medium containing L-cystine as a sole sulfur source (PubMed:25837721). The tcyP-tcyJ and tcyP-tcyL double mutants are completely resistant to both L-selenaproline and L-selenocystine (PubMed:25139244)
RNAi-mediated knockdown results in increased sensitivity to the heavy metal arsenite
Decrease in plasma membrane electron transport
RNAi-mediated knockdown causes a rupture of the vulva and an increase in laid oocytes in a small proportion of animals. In an ain-1 mutant background, enhances the proportion of animals arrested at the larval stage, with egg-laying defects and with a ruptured vulva
Retardation of photoautotrophic growth (PubMed:29891689). Reduced efficiency of photosystem II (PSII) subunit mRNAs (e.g. psbJ, psbN and psbA) ribosome loading and impaired synthesis of PSII reaction center proteins (e.g. J, N and D1) leading to reduced PSII activity and biogenesis, as well as reduced grana thylakoid formation (PubMed:29891689, PubMed:30844105). Reduced production of PSII subunits D1, D2, CP43, CP47, PsbE, PsbF, and PsbO, and, to a lower extent, of PSI subunits PsaA and PsaB (PubMed:29891689, PubMed:30844105). High levels of nonphotochemical quenching (NPQ) (PubMed:29891689)
Leads to lethality (PubMed:19351563). Heterokaryotic delta-ATG7/ATG7 strains and RNAi mutants produce aberrant fruiting-bodies (PubMed:19351563)
Deletion mutants are deficient in the biosynthetic pathway for pantothenate
Impairs the production of sirodesmin PL (PubMed:15387811, PubMed:20507539). Decreases the number of lesions and the efficiency in colonizing stems during infection of canola (PubMed:20507539)
Disrupted locomotion (unc); decreased speed, increased number of reversals and loss of mate searching behavior (PubMed:14551910, PubMed:22579613, PubMed:23143519). RNAi-mediated knockdown causes reduced expression of TGFbeta-like daf-7 in ASJ chemosensory neurons (PubMed:30024377)
Leads to increased production of ochratoxin A (OTA) in the presence of OTA-inducing carbon sources such as sucrose, glucose and arabinose (PubMed:36006213). Increases the amount of superoxide anion and H(2)O(2), as well as the sensitivity to H(2)O(2), in the presence of sucrose, glucose or arabinose (PubMed:36006213)
Disruption mutant is unable to grow on fructose as sole carbon source, but can still grow with ribose and mannose as sole carbon source
Deletion is lethal. Depletion results in cells that are elongated and grow into smooth filaments
Embryonic lethality (PubMed:25569111). Blastocysts retain normal morphology and expression of pluripotency markers and yield embryonic stem cells (ESCs) at the expected ratio. However, they fail to adequately terminate their naive state and undergo aberrant and restricted lineage priming at the postimplantation stage, leading to early embryonic lethality (PubMed:25456834, PubMed:25569111). mRNAs show a nearly complete absence of N6-methyladenosine (m6A) methylation (PubMed:25456834, PubMed:25569111). RNAs show defects in splicing and adenosine to inosine editing (PubMed:25569111). Conditional knockout mice lacking Mettl3 in germ cells show male infertility caused by defects in meiosis at the zygotene stage during spermatogenesis (PubMed:28809392). Conditional knockout mice lacking Mettl3 and Mettl14 in germ cells show impaired spermatogenesis (PubMed:28914256). Conditional knockout mice lacking Mettl3 in T-cells show impaired homeostatic expansion of naive T-cells, T-cells remaining in the naive state for up to 12 weeks, thereby preventing colitis (PubMed:28792938). Naive T-cells show loss of m6A modification leading to increased Socs1, Socs3 and Cish mRNA half-life and protein levels, thereby suppressing the IL-7/STAT5 signaling pathway (PubMed:28792938). Conditional knockout mice lacking Mettl3 in the developing nervous system display protracted cell-cycle progression of cortical neural progenitor cells and reduced differentiation of radial glial cells during embryonic cortical neurogenesis (PubMed:28965759)
Embryos reach the blastocyst stage, however, they die shortly after implantation and analysis of pre-implantation embryos indicates perturbed growth of both inner cell mass and trophectoderm
Morpholino knockdown of the protein results in reduced head and eye size and a ventrally curved body. No significant effect on formation of craniofacial cartilage. Formation of ceratohyal cartilage is disrupted with an abnormal angle relative to wild-type. Morphogenesis of the developing neural tube is abnormal, with a smaller angle between the walls of the hindbrain neuroepithelium at 24 hours post-fertilization (hpf). Retinal development is significantly delayed; no retinal ganglion cells (RGCs) are detected at 30 hours hpf and reduced numbers are found at 60 hpf. Cilium length in Kupffer's vesicle is significantly reduced. Double morpholino knockdown of marcksl1a and marckls1b results in a more pronounced developmental delay in the retina
No visible phenotype at birth and during the first four weeks after birth. After about eight weeks, the upper part of the small intestine is abnormally increased both in length and in thickness with enlarged villi and crypts. The villi are about two times larger than normal, and each is associated with about forty abnormally large crypts instead of the normally observed ratio of ten crypts per villus. In contrast, there is no difference in the size of the lower part of the small intestine. The body weight of mutant mice does not differ from that of wild-type littermates (PubMed:18242218). According to PubMed:20727355, the intestinal mucosa from newborn and adult mutant mice displays strongly decreased transepithelial conductance with strongly reduced paracellular Na(+) permeability, but no major changes in paracellular permeability to Cl(-). Adults show strongly decreased Na(+) levels in the lumen of the small intestine. Mutant mice also display decreased intestinal glucose uptake, probably due to decreased Na(+) levels. According to PubMed:23089202, mutant mice lacking both Cldn2 and Cldn15 display no visible phenotype at birth, but show decreased growth after about 10 days, severe developmental retardation about 14 days after birth, and then die from malnutrition. None survive more than 25 days after birth. Mice lacking both Cldn2 and Cldn15 show abnormally low Na(+) levels in the intestine, leading to decreased intestinal glucose uptake; glucose uptake can be restored to normal levels by addition of Na(+). Likewise, mice lacking both Cldn2 and Cldn15 show decreased intestinal uptake of milk fat, fatty acids, bile acids and amino acids; again, normal bile acid and amino acid uptake can be restored by the addition of Na(+)
Homozygous knockout mice lacking Ucp3 show no overt phenotype being born at the expected frequency, with no observed signs of abnormality, illness, or increased mortality at up to one year of age. They are not obese and have reduced free fatty acids and glucose serum levels. They show a normal circadian rhythm in body temperature and motor activity and have normal body temperature responses to fasting, stress, thyroid hormone, and cold exposure. The baseline metabolic rate and respiratory exchange ratio are the same in knockout and control mice. However, there is decreased proton leak in the mitochondria over the complete range of metabolic rates studied (PubMed:10748195, PubMed:10748196). Mitochondria are more coupled and the production of reactive oxygen species is increased. No effect on exercise tolerance and fatty acid oxidation is observed (PubMed:10748196)
Deficient mice elicit hyper-inflammatory responses, are more susceptible to septic shock, more resistant to RNA virus replication but exhibit early death upon DNA viral infection (PubMed:26474655, PubMed:33086059). They also show an impaired B-cell development (PubMed:22169041, PubMed:26348977, PubMed:27895164). In a similar way, NK-cell and dendritic cell development is impaired in deletion mutant (PubMed:25217698, PubMed:24062447). An enhanced systemic inflammation can be observed characterized by higher cytokine levels, as well as the hepatocellular enzyme alanine aminotransferase, a marker of liver damage (PubMed:30405132)
Not significantly affected in state transitions. Enhanced thylakoid folding and reduced mobility of thylakoid proteins under low-light conditions
Mutant animals are fertile, have normal life spans and have no overt anatomical abnormalities (PubMed:22220752). They have a normal corpus callosum, hippocampal commisure and pontine nucleus and no other gross neuroanatomical abnormalities (PubMed:22220752). Mice exhibit increased anxiety-related behavior (PubMed:30287486). Triple CBLN1, CBLN2 and CBLN4 knockout mice exhibit impairments in sensory processing and sensorimotor gating, in addition to severe motor deficits, seizures and reduced synapse density in the hippocampus of aging mice (PubMed:29691328)
Morpholino-induced knockdown affects tail morphology, and causes cardiac edema and abnormal swimming in response to tactile stimulation. Morphants show aberrant axons, either short or over-extended, with some axons appearing to branch to the adjacent myotome
Impairs the synthesis of austinol and dehydroaustinol and accumulates the intermediate compounds preaustinoid A4, preaustinoid A5 and austinoneol A11 (PubMed:22329759)
Cells lacking this gene present delayed growth in ethanol as the sole growth substrate (PubMed:31113891). Glycosylated mycofactocins are produced in this mutant, albeit in significantly lower amounts than wild type. MtfE can likely be complemented by an unknown peptidase present in the metabolic background of mycobacteria (PubMed:33014324)
Knockout mice present with skeletal dysplasia including growth retardation at birth and at 8 weeks, alteration of long-bone morphology, craniofacial anomalies and advanced tarsal maturation at birth, associated with enamel defects. The proportion of heparan sulfate (HS) in cartilage of knockout mice is significantly reduced compared with wild-type animals. SLC10A7 deficiency has no impact on skeletal muscle heparan sulfate levels
No visible phenotype under normal growth conditions, but mutant plants show enhanced sensitivity to heat, oxidative, salt, and drought stresses
Homozygous knockout mice are viable, fertile and do not display overt phenotype (PubMed:27875292). Knockout mice are hyperglycemic, glucose intolerant and develop a type II diabetic syndrome (PubMed:28057756). Zdhhc3 and Zdhhc7 double knockout mice show a perinatally lethal phenotype (PubMed:27875292)
No visible phenotype in normal conditions, but mutant mice are sensitive to ionizing radiation (PubMed:21270334). In B-cells, class switch recombination is increased, while somatic hypermutation is unaffected, due to increased occupancy of Aicda/Aid at the donor switch region (PubMed:26000965)
No visible phenotype in leaves or seeds; due to the redundancy with other FMO GS-OXs
RNAi-mediated knockdown in adult blood cells results in decreased survival following infection with S.aureus. Adults infected with S.aureus display decreased phagocytosis, increased bacterial load and increased production of reactive oxygen species (ROS) in the hemolymph. Phagocytosis of latex beads is normal, however flies pre-injected with S.aureus display a significant decrease in subsequent bead phagocytosis. Increased survival following infection with L.monocytogenes. Increased extracellular glutamate in the hemolymph. No effect on motor functions, adult weight and no increase in susceptibility to wounding. Induction of the antimicrobial peptides Drs and DptA in response to S.aureus or E.coli infection is not affected
RNAi-mediated knockdown results in both viable and inviable embryos, but eventually animals display germline maintenance defects and become sterile (PubMed:11861581). Double RNAi-mediated knockdown and/or mutagenesis with such-1 results in increased embryonic lethality and the production of one-cell arrested embryos (PubMed:20944012)
Stationary-phase cells lacking this gene are more sensitive to ionizing radiation. Growth rate, ultraviolet light and methyl-methanesulfonate sensitivities are unaffected. The spores formed are significantly more sensitive to dry heat, high vacuum-induced desiccation, X-rays and UV radiation, but no difference in hydrogen peroxide resistance exists
Morpholino knockdown of the protein causes small head and a curled tail by day 2. Knockdown causes increased sensitivity to IR-induced apoptosis (PubMed:22952453). In double morpholino knockdown of TP53 and YJU2, TP53 deficiency rescues animals from developmental neurodegeneration observed on YJU2 mutants and radiosensitivity (PubMed:22952453)
Mutants exhibit a strong systemic growth defect and die before reaching wild-type size
Worms exhibit developmental arrest at gastrulation
Resistance to 8-azaadenine and 8-azaguanine, and, to a lower extent, to 5-fluorouracil, but not to other toxic nucleobase analogs. Deficiency in the uptake of adenine and guanine
Cells lacking this gene show a cytoplasmic accumulation of MurNAc 6-phosphate-GlcNAc, predominantly during stationary phase. This accumulation can be abolished by expressing MupG
Reduction of polyploidy and inhibition of hypocotyl elongation
Displays increased levels of spontaneous RAD52 foci in proliferating diploid cells and exhibits an absence of G1 checkpoint in response to linoleic acid hydroperoxide (LoaOOH) treatment
Cells lacking all four members of the SidE family (SdeA, SdeB, SdeC and SidE) show no intracellular growth defect in mouse bone marrow macrophages (BMM), but display attenuated growth inside the protozoan hosts A.castellanii and D.discoideum (PubMed:15773981, PubMed:27049943). This mutant no longer recruits the endoplasmic reticulum (ER) marker GFP-HDEL to its vacuoles, even at 10 hours post infection, and is unable to induce Rab33b ubiquitination during infection (PubMed:27049943). The rate of ubiquitin-positive Legionella-containing vacuoles increases from 40% (wild-type) to approximately 90% in infections using the SidE family deletion mutant strain (PubMed:26598703). All these defects can be completely complemented by expressing sdeA on a plasmid (PubMed:15773981, PubMed:27049943, PubMed:26598703)
Reduces adhesion and damage to both human umbilical vein endothelial cells (HUVEC) and oral epithelial cells
Mice display impaired cilia formation associated with renal cystic dysplasia, as well as ductal plate malformation of the liver and polydactyly. Additional phenotypes, occurring at varying frequencies, include randomized heart looping, holoprosencephaly, microphthalmia, cleft palate, ventricular septal defect and thinning of the myocardial wall. Depending on their genetic background, mutant mice die between 14.5 dpc and P1
Ganglionic branches migrate normally along the intersegmental nerve, but sporadically fail to switch to the segmental nerve and enter the CNS; they wind up meandering along the ventral epidermis instead
No visible phenotype when grown under normal conditions. Lower nitrate concentration in xylem sap. Decreased long-distance root-to-shoot transport of nitrate but not of sulfate or phosphate
Mice show an increase in the length of the small intestine (PubMed:33168624). Gain significantly less body weight and fat mass when on high-fat diets compared with littermate controls and are prevented from hepatosteatosis (PubMed:33168624). Show increased cytokine expression and altered gut microbiota, and are significantly more susceptible to oxidative insult by ionizing radiation, showing accelerated mortality and enterocyte apoptosis (PubMed:32629119)
Reduced seed maturation (MAT) genes expression (PubMed:19531597). Slight reduction in the dark-induced activation of POX1/PRODH1 transcript accumulation (PubMed:21278122)
Mutants contain only hexose-modified phosphodolichols and exhibit defective or limited motility
Conditional knockout in male germ cells results in defects in wobble uridine tRNA modification and defects in synapsis and meiotic recombination which result in increased apoptosis and complete arrest of gametogenesis, leading to male infertility (PubMed:23717213). Conditional knockout in female germ cells results in female subfertility with reduced litter size although ovaries are morphologically and histologically indistinguishable from those of controls (PubMed:31827135). Oocytes show aneuploidy, reduced alpha-tubulin acetylation and are unable to complete meiosis with defects in meiotic spindle organization, chromosome alignment and kinetochore function (PubMed:31827135). Embryos derived from Elp1-deficient oocytes exhibit digyny, progressive delays in preimplantation development and severe degeneration before reaching the blastocyst stage (PubMed:31827135)
When this gene is missing the Thoeris system does not confer phage resistance in B.subtilis
Defects cause some indirect sensitivity to photosensitizers, due to the inability to synthesize pyridoxal 5'-phosphate. Indeed, pyridoxal 5'-phosphate is destroyed in the presence of photosensitizers, and cannot be synthesized in reaction
RNAi-mediated knockdown in sugar gustatory neurons does not affect sucrose response
According to PubMed:11585928, knockout male mice lacking Neurl1 are sterile due to a defect in axoneme organization in the spermatozoa that leads to compromised tail movement and sperm motility; knockout female mice lacking Neurl1 are defective in the final stages of mammary gland maturation during pregnancy. According to PubMed:11481456 knockout mice lacking Neurl1 are viable and morphologically normal but display an olfactory discrimination and are more sensitive to the effect of ethanol on motor coordination
Reduced greening during deetiolation in continuous high light, with a reduced ratio between chlorophylls a and especially at the highest irradiances. Slight reduction in the rate of chlorophyll accumulation during greening at moderate light intensities, and lower zeaxanthin accumulation in high light conditions. Normal sensitivity to photoinhibition and photooxidation. Impaired seed germination, especially in high light conditions and at warm to hot temperatures (greater than 22 degrees Celsius)
Increases crotonylation of LAT1 (PubMed:34927582). Accelerates conidial germination (PubMed:34927582). Increases virulence in tomato (PubMed:34927582)
Mutant mice exhibit inflammation and fibrosis of renal tubuli, glomerular sclerosis, enlarged Bowman capsules, and develop late-onset proteinuria. Vision is compromised, primarily due to impairment of cone function
RNAi-mediated knock-down is mostly embryonic lethal. Embryogenesis proceeds more slowly, with embryos displaying defects in the positioning and shape of epidermal cells
Increased organ size, biomass, and seed size and weight
No change in type 3 secretion system (T3SS) induction
Uncoordinated movement, protruding vulva and ray fusion defects in the male tail (PubMed:17506990). RNAi-mediated knockdown results in sterility (PubMed:16710447). RNAi-mediated knockdown in a him-8 mutant background results in no deposition of dimethylated 'Lys-9' of histone H3 (H3K9me2) on asynapsed chromosome pairs (PubMed:21909284)
Flies exhibit transparent larvae, and a reduction of the adult wing size
Slightly reduced susceptibility to Beet Curly Top Virus (BCTV) and Beet Severe Curly Top Virus (BSCTV). The double mutant rem4.1 rem4.2 displays resistance to BCTV and BSCTV
Reticulate leaf phenotype. Reduced number of leaf palisade mesophyll cells and increased bundle sheath cells. Small chloroplasts in mesophyll cells. Reduced photosynthetic electron transport rate. Under-expression of CAB3 protein. Reduced levels of aromatic amino acids and phenolic compounds derived from shikimate pathway
Lesion mimic mutant with a light conditional appearance of propagative hypersensitive response (HR)-like lesions along the vascular system, and associated with expression of defense genes, production of high levels of salicylic acid (SA) (PubMed:15269331). Increased resistance to virulent and avirulent strains of Pseudomonas syringae pv tomato (PubMed:15269331, PubMed:17720753). This necrosis symptoms are ethylene-dependent and associated with ethylene accumulation (PubMed:17720753)
Cells lacking this gene show a defect in the delocalization of competence proteins
No developmental defects in mice and mosquito hosts (PubMed:17335919). Not required for ookinete apoptosis (PubMed:17335919)
Leads to highly reduced verlamelin production (PubMed:24848421)
In mutant embryos, abnormal accumulation of cpna-1 into large foci in body wall muscle cells (PubMed:23283987). RNAi-mediated knockdown results in impaired mobility, mitochondrial fragmentation and disrupted integrin attachment complexes in muscle (PubMed:22253611). This leads to degradation of muscle proteins in the cytosol, myofibrillar defects and disruption of sarcomere organization (PubMed:22253611). RNAi-mediated knockdown in L4 larval stage, causes ectopic membrane extensions from body wall muscles (PubMed:16495308)
Increased sensitivity to paraquat-triggered oxidative stress. Slower root elongation after cadmium ion CdCl(2) treatment. Decreased histone H3 methylation (H3R17me2a) leading to reduced levels of APX1 and GPX1
Abolishes the production of 2,4'-dihydroxy-3'-methoxypropiophenone and 4'-hydroxy-3'-methoxypropiophenone
Plants exhibit non-race-specific resistance to rice blast fungus (M.grisea) and to bacterial blight (X.oryzae pv oryzae). Lesion mimic mutant spl11 is expressing defense-related genes in fully expanded leaf
About 85% of the mutant mice die in the first few hours after birth and few surviving animals display balance defects and exhibit persistent tremors. Mice show impaired development of the central and peripheral nervous systems in part by disrupting neurite outgrowth, cortical layering in the forebrain, and axon guidance in the corpus callosum
Inactivation leads to a decrease both in the amount of heme-iron associated with S.aureus cells and the amount of heme-iron that enters the staphylococcal cytoplasm
Does not affect growth on oleate
Mutation does not affect resistance to mercury
Defective in enteric muscle contraction resulting in abnormal defecation cycles and moderate to severe constipation
Disruption increases sensitivity of cells to microcin J25
Disrupted function of the female gametophyte. Defective in micropylar pollen tube guidance leading to zygotic lethality
Cells show derepressed silent mating-type cassettes
Cells proliferate more rapidly than wild type cells and exhibit supernumerary centrosomes and a cytokinesis defect. They also produce fewer spores at culmination
Mice show impaired synaptic transmission within 3 weeks in interpeduncular target neurons whereas significant decrease in both the synapse density and size seen only after 3 months (PubMed:30287486). Display impaired passive avoidance learning, spatial learning and short-term memory (PubMed:30287486). Double CBLN1 and CBLN2 knockout mice exhibit gait abnormalities, impairments in balance and coordination and develop seizures (PubMed:29691328). Synapse density in the hippocampus is normal in 1-2 months old mice, but severely decreased in 6 month old mice (PubMed:29691328). Triple CBLN1, CBLN2 and CBLN4 knockout mice exhibit impairments in sensory processing and sensorimotor gating, in addition to severe motor deficits, seizures and reduced synapse density in the hippocampus of aging mice (PubMed:29691328)
Loss of the ability to colonize the nasopharynx of infant rats
Early embryonic lethality (PubMed:27061115). Embryos show an impaired initiation of gastrulation (PubMed:27061115)
Mice are viable but show profound defect in male meiosis leading to male sterility. Testes display increased hypomethylation of retrotransposons and their subsequent expression as well as piRNAs suppression
Pale green seedlings that are lethal when grown on normal conditions
Deletion mutant mice display normal development (PubMed:8766560). However, they are unable to restrict the progression of Leishmania major infection with strong parasite load in lymphoid tissues observed (PubMed:8766560). In addition, regulatory T-cells are functionally defective and mice are unable to control colitis (resembling inflammatory bowel disease, IBD)(PubMed:18033300)
Mice are normal with no alterations in fertility, body size and behavior
Decreases sporulation efficiency by 4 orders of magnitude. A double spoIISA-spoIISB disruption sporulates normally, suggesting its only role is to neutralize SpoIISA
Grows normally, reduced secretion of SdpC (formerly YvaY) and another 36 kDa protein
Worms exhibit retarded embryonic development and paralysis (PubMed:2583106). Muscle organization shows disruption with abnormalities of both the filament lattice that constitutes the A-band and the hypodermal cell (PubMed:2583106). RNAi-mediated knockdown causes an accumulation in the proximal gonad of endomitotic mature oocytes in 51 percent of animals (PubMed:17326220)
Mutant loses the ability to synthesize homoarginine and phaseolotoxin under permissive conditions
Deletion mutant shows impaired intracellular survival within the human THP-1 macrophage infection model, and fails to inhibit phagosome acidification. However, the mutant displays enhanced resistance against oxidative stress in vitro. Disruption of the gene increases secretion of the thioredoxin reductase TrxB
In the standard Sauton's medium containing 6% glycerol, disruption mutant displays poor growth and very poor biofilm phenotype with no full attachment on the medium-air interface at day 35 (PubMed:31244785). Mutant shows abnormal Crabtree effect. Mutant has a compromised ability to down-regulate ATP and secretes more pyruvate, acetate, succinate, and glutamate in the culture medium. Mutant has higher intracellular pyruvate and produces more toxic methylglyoxal, suggesting a glycolytic stress leading to growth stasis and consequently biofilm failure (PubMed:31244785). Deletion of the gene enhances copper susceptibility during biofilm growth (PubMed:32812602)
No observable effect on sporulation (PubMed:8002615). Forms a weak or no biofilm, wild-type sporulation (PubMed:22882210, PubMed:26297017)
No visible phenotype. Cdc27a and cdc27b double mutant is gametophytic lethal (PubMed:17944809)
Reduced rosette size and inflorescence length as well as root gravitropism defects in snx2a and snx2b double mutant
Natural transformation efficiency with chromosomal DNA decreases to 10%; uptake of replicating plasmid DNA is unaffected. Increased sensitivity to methyl methanesulfonate but not UV light (PubMed:17631629)
Homozygous knockout mice exhibit a complex cardiovascular phenotype that includes a combination of aortic valve thickening with or without bicuspid aortic valve, aortic valve stenosis, regurgitation and/or ascending aortic aneurysm. In general, these phenotypes are observed with low penetrance and male predominance
Confers resistance to 5-fluorouracil
Semi-dwarf phenotype (PubMed:19305410, Ref.2). Dense and erect panicles, and high grain number per panicle (PubMed:19305410, PubMed:32111163). Increased number of spikelets (Ref.2). Increased tolerance to drought, salt and cold stresses (PubMed:32111163)
No visible phenotype. Double mutant abn2/abnA induce an almost complete loss of this activity
Maternal effect lethality. Blastomeres cleave synchronously until the fourth or fifth round, when synchrony breaks down. Cells also fail to segregate P granules, with the posteriormost blastomere tending to contain more P granules than other blastomeres. Terminal stage embryos fail to produce intestinal cells. Adult worms exhibit temperature-dependent reduction of oxidative-stress induced aak-2 phosphorylation, hypersensitivity to oxidative stress, slow body bending, abnormal modulation of head oscillation, and partially suppress the lifespan extension and dauer-constitutive phenotypes of aak-2 mutants. Cytokinesis cell polarity defeats; mispositioning of anterior PAR proteins and defects in contractile ring ingression during cytokinesis due to abnormal actomyosin contractility. Shortened dendrites
Plants display high sensitivity to external oxidants, and their content of protein carbonylation is higher than wild-type plants
Cells lacking this gene show a slight decrease in growth as compared to the wild-type when they are grown in nutrient-rich medium
Mutant exhibits a twofold increase in exotoxin A production
No visible phenotype; due to redundancy with NHX5. Nhx5 and nhx6 double mutant has a slower development, is drastically smaller and is salt sensitive
RNAi-mediated knockdown results in both viable and inviable embryos, but eventually animals display germline maintenance defects and become sterile
Severe developmental abnormalities of vegetative organs and impaired reproductive organ formation. Chromosomal fusion in mother pollen cells. Increased telomere length and frequency of anaphase bridges containing telomeric repeat DNA
Delayed seed germination, retarded growth and reduced size and height
Morpholino knockdown of the protein results in profound anemia without affecting erythroid specification. No porphyric phenotype detected
Embryonic lethality due to embryo development arrest at the globular stage
No visible phenotype (PubMed:19737747, PubMed:22829780). No defect in the positioning of ASI and ASH neuron cell bodies (PubMed:22829780). No defect in the positioning of PQV, PVP, RMEV, HSN adn AVK axons in the ventral nerve cord (PubMed:19737747). In a zig-2, zig-3, zig-4 or zig-5 or zig-8 mutant background, cell body positioning of ASI and ASH head neurons is normal (PubMed:22829780)
Increased vacuolar invertase activity leading to accumulation of hexose
Leads to a significant reduction in virulence and increased the concentrations of both free salicylate and its glucoside (SAG) by 100-150% in inoculated cotton plants
Disruption mutant does not synthesize sulfolipids (PubMed:11278910, PubMed:24028583). Mutant is incapable of producing hepta- and octamethyl phthioceranic acids and hydroxyphthioceranic acids, which are the major acyl constituents of sulfolipids (PubMed:11278910)
Strongly decreased level of KDM1A polyubiquitination resulting in increased level of KDM1A protein. Decelerated emergence of neural progenitors and mature neurons. Embryonic stem cells grow in aggregates with smoother-edged, rounder-shaped cell clones and fail to organize in rosettes with surrounding cells exhibiting neuronal morphology with extensive arborization. Decreased expression of neural markers
Not essential, it can be deleted (PubMed:28096490). Deletion of the mbcT-mbcA operon has no visible phenotype (PubMed:30792174)
Loss of swarming in the presence and absence of phosphate; double phoB-pstS deletions act like phoB deletions
Viable but displays adherent transition zone (TZ) assembly in sensory neurons and spermatocytes (PubMed:31821146). Consequently, adults display phenotypes associated with ciliary dysfunction and disorganization, such as reduced geotaxis response and decreased male fertility (PubMed:31821146). Some mutants also display, reduced scolopidia cilia number, deformed axonemes, excess accumulation of material beneath the ciliary membrane and deformation of the ciliary membrane (PubMed:31821146). In spermatocytes, some centrioles are undocked and display irregular distal ends or microtubules extending from the distal ends (PubMed:31821146). Dzip expression is slightly reduced and in spermatocytes, Mks1 is lost or reduced at the cilliary transition zone and Cby is completely lost at the tip of the centrioles (PubMed:31821146)
While wild-type P.aeruginosa grows readily on either quinate or shikimate as a sole carbon source, the knockout strain does not efficiently utilize these substrates. Growth of the knockout is enhanced by the addition of protocatechuate, bypassing the function of QuiC1
Mild reduction in the number of red blood cells
No change in biofilm formation, about 35% decreased adherence to human lung pneumocytes. Complete loss of host cell hemolytic activity
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Strongly reduces conidiation (PubMed:28894236). Causes only mild infection in point-inoculated spikelets of flowering wheat heads and impairs the spreading to nearby spikelets (PubMed:28894236)
Mutant cannot utilize hemoglobin as the sole source of heme for growth. Mutation attenuates the virulence
Fungi lacking both CMT1 and CMT2 show attenuated virulence and reduced pulmonary colonization in mice (PubMed:23498952). Impairs growth rescue by antioxidants when cells are treated with fluconazole (PubMed:31694529)
Deletion leads to the absence of 1-methylpseudouridine at position 54 of tRNA, but does not lead to any obvious phenotype
Semi-dwarf phenotype. Reduced organ growth due to inhibition of cell proliferation
Plants fail to develop apical hook in the dark and exhibit abnormal embryogenesis from the heart stage. Deficiency in lateral root formation and abnormal patterning of the embryo apex, which leads to defective cotyledon organogenesis like small and thick hypocotyl, finger-shaped cotyledons and small fused leaves. Ectopic cell proliferation in the presence of cytokinins
Mutants with impaired chloroplast development that display aberrant chloroplast structure (PubMed:15220473). No defect in male fertility, due to redundancy with CHX21. Chx21 and chx23 double mutants are male sterile (PubMed:21239645)
Morpholino knockdown in embryos reducing the levels of grx3 protein to 40% severely impairs the synthesis of heme and the maturation of hemoglobin, and results in individuals with fewer red blood cells
Slight changes of mRNA bulk poly(A) tail lengths (PubMed:23843623). Animals display a reduced brood size at elevated temperature of 25 degrees Celsius compared to wild-type (PubMed:23843623, PubMed:26919432). Accumulation of untrimmed piRNAs with 3' extensions, which are stable and able to co-localize with the piwi protein prg-1. However, while the expression levels of piRNAs remain unchanged, the piwi-dependent mRNA silencing is reduced, as is the production of piwi-dependent secondary small interfering RNAs (siRNAs), also called 22G-RNAs, on mRNA targets. 5'-end processing and methylation of 3'-ends are unaffected. No changes in length distribution of other small RNA species, such as microRNAs (miRNAs) (PubMed:26919432)
Deletion has no significant effect on the binding, transport or utilization of vitamin B12 or other cobalamins
Leads to cold sensitivity, slow growth, and altered colony morphology
Depressed postnatal feeding behavior leading to premature death latest at P9. Degeneration in hypothalamic regions that control feeding behavior
Depletion of Era does not affect bacterial growth, assembly of ribosomes, profile of newly synthesized proteins or the susceptibility of bacteria to protein synthesis inhibitors
No visible phenotype, probably due to functional redundancy
No visible phenotype under normal growth conditions (PubMed:17143579, PubMed:19563437). No decrease in uracil phosphoribosyltransferase activity (PubMed:17143579, PubMed:19563437). Loss of sensitivity to 5'-fluorouracil and 5'-fluorouridine (PubMed:17143579, PubMed:21828290)
Cells lacking this gene show a white phenotype
Spores are extremely permeable to lysozyme and are blocked in late stages of germination
Retarded root growth, and altered root meristem size and stem-cell patterning (PubMed:24121311). Late flowering phenotype (PubMed:25636918)
Increased levels of thalian-diol in roots
A mutant confers resistance to trichodermin, a trichotecene toxin produced by plant-pathogenic fungi
Morpholino knockdown of the protein causes malformation anbd delayed hatching
Decreased nitric oxide (NO) production in seedlings after elicitor treatment with 2,6-dichloroisonicotinic acid (INA) in root tips and salt stress associated with a reduced arginine availability but with a normal nitrate reductase activity in plants (PubMed:28383668). Reduced primary root length (PubMed:28383668)
No visible phenotype under normal growth conditions, but mutant plants accumulate increased levels of starch and have starch granules with alterated morphology
Cells show precocious development. Alterations are also noted at the slug stage and in spore formation. Slugs are longer and break apart several times on their way to culmination forming smaller but proportionate fruiting bodies. Spores from fruiting bodies are malformed and less viable, although the spore differentiation factors are synthesized and sensed normally. Mutant completes development 6 hours earlier
Significantly slowed infection in IRF-1-/- mice infected with strain 16M / GR023 deletion bacteria, increased expression of TNF and interleukin-beta (PubMed:19196716). Slightly reduced colonization of BALB/c mice 5 weeks post-infection (PubMed:27311859)
Causes only a modest decline in CLB2 cluster genes expression, but this expression is abolished when both FKH1 and FKH2 are deleted (PubMed:10959837). Leads to a defect in silencing HMRa (PubMed:10747051). Causes a form of yeast pseudohyphal growth, when FKH2 is also deleted (PubMed:10747051). Affects cell-cycle progression and CLB2 mRNA expression (PubMed:10747051)
Inactivation of the gene does not impair vegetative growth nor prevent the development of resistance to heat, chloroform and lysozyme (PubMed:10419957). According to Kodama et al, the germination of the mutant spores induced by L-alanine is defective. However Chirakkal et al reported that the mutant shows wild-type germination kinetics in L-alanine (PubMed:12177332, PubMed:10419957)
No defect in tachyzoite replication (PubMed:32051238, PubMed:21616070). Food ingestion and turnover of autophagosomes are normal (PubMed:32051238). Normal tachyzoites conversion into bradyzoites (PubMed:32051238). No defect in secretory organelles and inner membrane complex (IMC) biogenesis (PubMed:21616070). No defect in virulence in a BALB/c mouse infection model (PubMed:21616070)
Prickle3 knockdown results in reduced respiratory complex V activity, altered complex V assembly, and abnormal mitochondrial morphology observed in the retina. Mutant mice exhibit degeneration of retinal ganglion cells, fewer retinal neurofilaments than wild-type mice, abnormalities of the retinal vasculature, and significantly reduced retinal function
The developmental pattern of protein ubiquitination is altered in null cells. Null cells are blocked in the ability to properly execute the developmental transition that occurs between the induction of postaggregative gene expression during mound formation and the induction of cell-type differentiation and subsequent morphogenesis. Null cells plated on agar form mounds with normal kinetics; however, they remain at this stage for 10 hours before forming multiple tips and fingers that then arrest. Postaggregative gene transcripts accumulate to very high levels and do not decrease significantly with time as they do in wild-type cells. Expression of cell-type-specific genes is very delayed, with the level of prespore-specific gene expression being significantly reduced compared with that in wild-type cells. Defect in the ability of null cells to participate in normal development in chimeras containing wild-type cells. Increased stablity of mkkA and similar phenotype (significant delay at the mound stage and arrest at the first finger stage) of cells that overexpress mkkA
Decreased yields of PSII dimers with increased PSII monomers, slightly slower photoautotrophic growth, about 20% less oxygen evolution. Formed PSII dimers are less stable than wild-type
No visible phenotype. The skin of 7-week-old null mice appeared normal, but scanning electron microscopy revealed structural alterations in the whiskers and hair coat morphology (PubMed:27866708)
Reduced seed size with abnormal morphology and reduced triacylglycerol content. Retarded growth on medium lacking sucrose
No significant reduction in taste responsiveness: mice have normal nerve and behavioral responses to sour stimuli
Perinatal lethality, exencephaly, impaired neural fold elevation, abnormal head mesenchyme morphology and defects in eye and cranial vault morphology (PubMed:17442300, PubMed:22431752). Cranial mesenchyme (CM) cells are larger, have an abnormal shape and an abnormal emigration (PubMed:22431752). It is likely that the increased motility of CM cells results in the exencephaly phenotype (PubMed:22431752). Mice with a conditional deletion in hematopoietic cells show reduced hematopoietic stem cell frequency and protein translational rate upon proliferative stress, causing defects in transplantation ability and ex vivo maintenance (PubMed:33711283)
Deletion of the gene has no effect on growth in medium containing salicylate or on intra-macrophage replication (PubMed:28061949). Deletion does not affect sensitivity to plumbagin, menadione, nigericin, PAS or CCCP (PubMed:28061949)
Reduced UV light- and gamma ray-induced mutation frequency. Slightly sensitive to ultraviolet-B (UV-B) and DNA cross-linkers (e.g. mitomycin C MMC and cisplatin). Lower germination rate
Loss of methyltransferase activity
Death at birth or within the first 2 postnatal days due to defects in neuroendocrine hypothalamus differentiation
Viable and fertile with normal brain anatomy but mutants display severe deficits in hippocampus-dependent spatial learning and memory that are accompanied by enhanced long-term potentiation, impaired long-term depression, a thinning of the postsynaptic density at hippocampal synapses, reduced protein levels of Dlg4 and increased Dlg4 polyubiquitination (PubMed:25751059). Smaller myofibers than wild-type animals and impaired muscle regeneration after injury (PubMed:23615608). Impaired bacterial clearance following E.coli infection (PubMed:26838550). RNAi-mediated knockdown in embryos results in greatly reduced dendritic spine density and small but significant increases in spine length and decreases in spine diameter (PubMed:23595754)
No visible phenotype under normal growth conditions, but plants lacking LPXB accumulate high levels of 2,3-diacylglucosamine-1-phosphate and UDP-2,3-diacylglucosamine
Lethal at larval stage (PubMed:16172499). Larvae show reduced locomotor speed and response to light (PubMed:16172499). Results in smaller muscle fibers with mitochondria defects (PubMed:16172499). RNAi-mediated knockdown is lethal at larval stage (PubMed:25164807). RNAi-mediated knockdown in the developing CNS, in the eye and antenna disk from early larval stages shows increased lifespan with reduction of COX activity, increased succinate dehydrogenase (SDH) activity, reduced locomotor speed and response to light (PubMed:16172499, PubMed:25164807). RNAi-mediated knockdown in mesodermal derivatives from early embryonic stages to pupal metamorphosis is lethal at pupal stage with muscles showing enlarged and disorganized mitochondria and reduced activity of all mitochondrial respiratory chain complexes (PubMed:25164807)
No visible phenotype, may be due to the existence of 4 homologous proteins
Plants show abnormalities in growth: inhibition of second internode elongation, shortened leaf sheaths, erect leaves, and deficiency in skotomorphogenesis. Treatment with exogenous brassinolide (BL) rescues the abnormal phenotype
RNAi-mediated knockdown causes defective oocyte transit through the spermatheca. Calcium oscillations triggered during ovulation are random resulting in uncoordinated spermatheca constrictions. Oocytes enter the spermatheca normally but change direction several times before returning into the gonad or proceeding into the uterus. RNAi-mediated knockdown disrupts tail tip morphogenesis resulting in retention of the pointed larval tail tip in adult males (also known as the Lep phenotype) (PubMed:21408209)
Increased hypocotyl growth inhibition and cotyledon unfolding responses in the very low fluence response (VLFR) mode. Reduced phototropic response. Reduced hyponasty when grown under blue light. Loss of negative root phototropism. Auxin accumulation in protoplasts
Upon operon disruption no reduction of serine uptake at pH 6.9, no visible effect on outer membrane permeability, however severe delays in ammonia secretion, medium pH neutralization and growth also occur at pH 5.5. Reduced expression of ArfA
No visible phenotype under normal growth conditions (PubMed:23087326, PubMed:23874224, PubMed:24146632, PubMed:25985302). Mutant seedlings show increased tolerance to heat stress (PubMed:23087326, PubMed:25985302). Mutant seedlings show increased sensitivity to salt stress and abscisic acid (ABA) (PubMed:24146632). Mutant plants exhibit increased resistance to the fungal pathogen Fusarium oxysporum (PubMed:25985302)
Deletion mutant fails to secrete EsxA
Not essential for growth. A number of proteins can be seen to be more stable in the disruption mutants, suggesting some of them may be substrates for the protease
Leads to sensitivity the DNA-damaging agents cisplatin and oxaliplatin, but not to mitomycin C
Strongly reduces the iron responsiveness of expression of LEU1 by affecting the synthesis of alpha-isopropylmalate
No visible phenotype; probably due to a complementation by PV42b. Shorter siliques and reduced seed sets in pv42a and pv42b RNAi double mutant
No effect on cell growth, significantly reduces export of the cell wall protein SrpA. The small amount that is exported seems to be glycosylated normally
Vascular discontinuity (PubMed:15923323, PubMed:18344418). Short and swollen roots and hypocotyls due to cellulose-deficient walls associated with increased levels of arabinose, xylose, and galactose in non-cellulosic polysaccharides (PubMed:18256049). Infertility due to the inability of stigmatic papillae to undergo rapid polar expansion prior to fertilization (PubMed:18344418). The alteration of cell wall formation correlates with abnormal phragmoplasts and division plates in dividing cells, as well as reduced cell elongation and disturbed endocytosis (PubMed:18256049). Hypersensitivity to trafficking inhibitors (e.g. brefeldin A, monensin A and latrunculin B) (PubMed:18256049). Both basal and apical shift of ARAC3/ROP6 and ARAC4/ROP2 positioning and broad lateral localization of D6PK in root hair-forming cells leading to basal and apical shift of root hair positions (PubMed:27251533)
RNAi-mediated knockdown increases expression of potassium channel accessory subunit mps-2 and suppresses age-dependent memory decline
Deletion mice are viable, fertile, and grossly normal (PubMed:28402695, PubMed:28115522). However, adult mice develop frequent spontaneous seizures and display abnormal electrical activities in brain (PubMed:28402695). In addition, they display reduced 5-hydroxymethylcytosine (5hmC) in genomic DNA in the brain together with impaired spatial memory acquisition and retention (PubMed:28115522)
Nearly complete loss of expression of hcnA (PubMed:10570200)
Resistant to inhibition of root elongation and promotion of lateral root formation by the auxin precursor indole-3-butyric acid (IBA). Deficiency of benzoic acid-containing glucosinolates in the seeds. Resistance to the pro-herbicide 2,4-dichlorophenoxybutyric acid (2,4-DB)
RNAi-mediated knockdown causes abnormal male tail development (PubMed:20687916). Abnormal fusion of structures in male-specific genital sensilla (simple sense organs) known as rays (PubMed:20687916). Abnormal fusion of rays 6 and 7 enhanced in a sma-6 mutant background (PubMed:20687916). Reduced fecundity in hermaphrodites (PubMed:20687916). In response to nano-polystyrene, causes decreased locomotion behavior and increased reactive oxygen species (ROS) production (PubMed:32758726). Intestine-specific RNAi-mediated knockdown causes increased ROS production and reduces expression of daf-16 and sod-3 (PubMed:32758726)
RNAi-mediated knockdown reduces expression of alpha integrin ina-1 and ADAMTS protease gon-1, and causes defects in migration of the gonadal distal tip cells (DTCs)
Inviable cell population (PubMed:33754639). Degron-mediated knockdown leads to decreased cellular levels of Sm-class snRNPs and defects in spliceosome activity (PubMed:33754639)
Viable, but males display irregular mating behavior (PubMed:28745435). Ciliary defects in ciliated sensory neurons include impaired extension of dendrites, and abnormal amphid and phasmid sensillum morphology (PubMed:28745435, PubMed:29021280). Homozygotes present the swimming-induced paralysis (Swip) phenotype (PubMed:28842414)
Increased susceptibility to oxidative stress (H(2)O(2), cumene hydroperoxide and diamide, PubMed:12123450) and heat shock (45 and 52 degrees Celsius). Loss of stress-induced expression of a number of genes including clpB, dnaK, sigE and trxB (PubMed:11567012), sigB and itself (PubMed:12123450). No effect on infection of human derived macrophages, and murine J774.1 activated and unactivated macrophages (PubMed:12123450)
Males are infertile due to a disrupted spermatid development, resulting in a >1000-fold decrease in spermatozoa production
Defects in meristem formation. Shoot apical meristem (SAM) terminates to a flat meristem, a small radially symmetric pin-like structure that lacks a vascular strand, a radially symmetric leaf, a single leaf or two leaves fused on their adaxial sides. Abnormal ovules and embryos. The double mutant pnh-2 han-2 has smaller inflorescence meristems (IM) and taller floral meristems (FM) leading to fewer petals (PubMed:26390296)
Cells lacking this gene show a high decrease in putrescine aminotransferase activity, but are still able to grow with putrescine as the sole nitrogen source. However, a mutant lacking both patA and either puuA, puuB or puuC cannot grow with putrescine as the sole nitrogen source
RNAi-mediated knockdown in combination with double mutants for the class A and B synMuv genes lin-36;lin-15A, lin-8;lin-15B, lin-15AB, lin-35;lin-8, lin-8;lin-36, lin-8;lin-9, lin-8;lin-37 or dpl-1;lin-15A results in suppression of the synthetic multivulva phenotype
RNAi-mediated knockdown causes embryonic lethality and missing male-specific sense organs, known as rays (PubMed:16236764). In hermaphrodites, RNAi-mediated knockdown causes a slight (5%) reduction in body length at adulthood (PubMed:16236764)
Faster germination of seeds under cold, salt and abscisic acid (ABA) treatment conditions, but not upon dehydration stress (PubMed:32933187). Reduced survival rate under drought and heat stresses, but increased resistance to salt (PubMed:32933187). Enhanced cotyledon greening after ABA application associated with reduced transcript levels of ABA signaling-related genes (e.g. ABI3 and ABI4) (PubMed:32933187)
RNAi-mediated knockdown causes partial embryonic lethality (PubMed:15716356, PubMed:18854144). Impairs response to ER stress (PubMed:18458060). Abnormal accumulation of myosin chaperone unc-45 in body wall muscles (PubMed:17369820). RNAi-mediated knockdown in an unc-45 (m94) mutant background, restores motility (PubMed:17369820). Simultaneous RNAi-mediated knockdown of cdc-48.2 in embryos causes embryonic lethality (PubMed:15716356, PubMed:16647269, PubMed:18097415, PubMed:18854144, PubMed:18728180). Defects in oocyte meiosis I progression (PubMed:17512499). Defects in embryo S phase DNA replication causing delays in cell cycle progression (PubMed:17512499, PubMed:18728180, PubMed:21981920, PubMed:26842564, PubMed:28368371). At the end of mitosis, impairs chromatin decondensation and nuclear envelope re-assembly (PubMed:18728180, PubMed:18854144, PubMed:18097415). In addition, abnormal accumulation of air-2 on mitotic chromatin and impaired air-2 activation (PubMed:18097415). Does not affect ER transition into sheet-like structures at the onset of embryonic mitosis (PubMed:15716356). Simultaneous RNAi-mediated knockdown of cdc-48.2 in young adults decreases lifespan, induces the unfolded protein response, increases overall levels of polyubiquitinated proteins, and impairs the degradation of misfolded ER proteins (PubMed:16647269, PubMed:17825049, PubMed:17369820, PubMed:21317884, PubMed:22768338). Causes defects in germline development (PubMed:20977550). In an atx-3 (gk193) mutant background, causes a 50 percent increase in longevity, a delay in age-related muscle degeneration and resistance to oxidative and heat stresses (PubMed:21317884)
Ookinetes fail to traverse the midgut epithelium resulting in a reduced number of oocysts in the gut epithelium of the mosquito host A.stephensi (PubMed:29873127). Gametogenesis and ookinete development are normal (PubMed:29873127). Growth rate and development of blood stage parasites are normal (PubMed:29873127)
Severe reduction in root and shoot size
Cells lacking this gene show no impaired growth on minimal medium but addition of 5-deoxyribose inhibits growth at a higher level than wild-type
Larger seeds and rosette leaves and increased number of cauline leaves at flowering. Decreased concentration of lysine, phenylalanine, leucine and aspartic acid in the sieve element sap, but no significant effect on aphid feeding behavior or reproduction
Decreases the amounts of 4,4-dimethylergosta-8,14,24(28)-trienol, the product of the Fusarium sterol 14-alpha demethylases (PubMed:23442154). Leads to reduced ability to produce conidia (PubMed:20955812). Results in high sensitivity to triadimefon and antifungal azoles such as propiconazole (PubMed:20955812, PubMed:23442154). Affects ergosterol production in the presence of ebuconazole or triadimefon (PubMed:20955812). Host-induced gene silencing of the 3 genes encoding sterol C14-alpha-demethylase leads to strong resistance of host to Fusarium species (PubMed:24218613)
The phd-doc operon is not essential. A triple TA mutant (missing vapB-vapC, mazE-mazF and phd-doc TA systems) survives antibiotic challenge, suggesting the TA systems are not required to generate drug-resistant cells. However the mutant is more sensitive to oxidative and heat stress, and does not survive long term starvation during aerobic growth on complex medium. There is a difference in the level of branched-chain amino acids, which may play a role in monitoring the nutritional supply and physiological state of the cell
Severe impairment of growth in anaerobic conditions, as well as in growth on minimal medium. Increased sensitivity to environmental changes. Poor starvation survival and slower growth on glucose, fructose, tryptone broth, or pyruvate, but normal growth on glycerol or succinate
Modified starch composition. This phenotype is enhanced when associated with SBE2.1 and SBE3 disruptions
Male mice are infertile, while female fertility is not affected (PubMed:30686508). Spermatozoa exhibit multiple morphologic abnormalities including short, thick, and/or coiled flagella, whereas sperm heads conserve an overall typical hooked shape (PubMed:30686508)
Mutants have reduced cholesterol esterification activity as well as reduced lipid droplets
Mice display disappearance of hippocampal CA3 pyramidal neurons as well as growth retardation in the third week after birth. Adult mice lacking Stam and Stam2 due to inducible gene targeting exhibit significant reduction in T-cell development in the thymus and profound reduction in the peripheral mature T-cells
Mutants exhibit nearly constitutively high levels of RpoS and are impaired in the post-transcriptional growth phase-related and osmotic regulation of RpoS. In exponentially growing cells, mutants exhibit significantly reduced levels of polyadenylation and increased stability of specific mRNAs
Embryonic lethality during late-gestation (PubMed:33964306). Mice display gastrointestinal abnormalities associated with chylomicron retention disease: they show lower plasma levels of triglycerides, total cholesterol, and HDL-cholesterol, along with reduced chylomicron secretion following gastric lipid gavage (PubMed:33964306). Conditional deletion in the liver depletes plasma lipids (PubMed:33186557)
Increased sensitivity to C2-ceramide induced cell death
Mutant show progressive loss of IL10 production in B-cells and with age develop severe multiorgan tissue inflammation (PubMed:25582854). Mucin-domain deletion mice exhibit decreased phosphatidylserine binding and are also unable to produce IL10 in response to apoptotic cells (PubMed:25645598). Specific deletion on B-cells results in spontaneous systemic autoimmunity (PubMed:32668241)
No visible phenotype, but severe reductions in scopoletin and scopolin levels in the roots (PubMed:18547395, PubMed:29581584). Compromised iron uptake from an iron source of low bioavailability; this phenotype is partially rescued when grown alongside wild-type seedlings, presumably by secreted phenolics and flavins (PubMed:23735511). Loss of fluorescent coumarins (including sideretin, scopolin, scopoletin, esculin, esculetin, and fraxetin) root secretion in response to iron deficiency. Impaired iron-uptake ability at elevated pH (e.g. pH 7.2) leading to chlorotic and stunted plants; this phenotype is rescued by fraxetin, scopoletin, esculin, esculetin and sideretin treatments (PubMed:29581584, PubMed:24246380)
Deficient rats develop ectopic mineralization in the skin, eyes, and the arterial blood vessels. Plasma inorganic pyrophosphate (PPi) level is reduced by 70 % in deficient rats leading to a lowered PPi/Pi ratio
Dispensable for cell growth, cells lacking this gene have a shorter lag phase
Mutant embryos do not form any insulin-expressing cells in the pancreas throughout development, and instead accumulate incompletely differentiated beta cells (PubMed:11076772). Simultaneous knockout of NKX6-1 and NKX2-2 is not distinguable from the single NKX2-2 knockout (PubMed:11076772)
Defects in cell polarity. Strains homozygous for ERV14 deletion do not sporulate
RNAi-mediated knockdown in embryonic salivary glands (SG) results in lumenal irregularities in the SG
Abolishes the biosynthesis of the signaling molecules 2-heptyl-3-hydroxy-4(1H)-quinolone (PQS), 2-heptyl-4-hydroxyquinoline (HHQ) and 2,4-dihydroxyquinoline (DHQ)
Cells lacking this gene show hypersensitivity to Cu(+) toxicity but not to divalent heavy metals such as Zn(2+). Deficiency of MymT does not impair M.tuberculosis virulence in mice
No visible phenotype; on the 129/Svj background, mice are healthy (PubMed:16469926). Mice display impaired lipopolysaccharide (LPS)-induced lymphocyte apoptosis and are markedly protected from LPS-induced lethality (PubMed:19168786). Mice lacking Casp3 and Casp7 on the C57BL/6J background die immediately after birth because of defective heart development (PubMed:16469926)
Mice display mitochondrial myopathy affecting heart and skeletal muscles (PubMed:9207786). Hindlimb muscles exhibit abundant ragged-red fibers, characteristic of mitochondrial myopathies (PubMed:9207786). Increased mitochondrial activity is observed, reflecting greater mitochondrial content (PubMed:9207786). In addition, mice are exercise intolerant (PubMed:9207786). Mice develop chronic progressive external ophthalmoplegia, but show normal ocular motility (PubMed:16303948). In retina, while abnormalities are observed in extraocular muscles, retinal structure and function are not affected normal (PubMed:20671283). Cells display impaired mitochondrial uncoupling (PubMed:31341297). Cells show impaired autophagy, leading to accumulation of aberrant mitochondria (PubMed:31618756). Mice lacking Slc25a4/Ant1 and Slc25a5/Ant2 in liver still have mitochondrial permeability transition pore (mPTP) activity, although more Ca(2+) is required to activate the mPTP (PubMed:14749836). Deletion of Slc25a4/Ant1, Slc25a5/Ant2 and Slc25a31/Ant4 in liver completely inhibits mPTP (PubMed:31489369). Mice lacking Slc25a4/Ant1, Slc25a5/Ant2, Slc25a31/Ant4 and Ppif lack Ca(2+)-induced mPTP formation (PubMed:31489369)
Mice carrying a gene trap insertion in the gene express 20% of the normal level of mRNA. The hypomorphic mutant displays a number of defects that mirror ASNSD syndrome, although the phenotype is milder. Mice have structural brain abnormalities, including reduced cortical thickness and enlarged ventricles. Mutant mice also show deficits in learning and memory. Mutant mice do not show abnormal motor activity or seizure activity
Plants are hypersensitive to salt
Abolishes completely conidiation (PubMed:17030990). Results in production of bristle-like structures instead of conidiophores and conidia and fails to produce ergot alkaloids (PubMed:18333504). Reduces significantly expression of gliotoxin biosynthetic gene cluster including gliM, gliP, gliT, and gliZ (PubMed:26032501). Impairs down-regulation of genes encoding ribosomal proteins under nitrogen-limiting, but not carbon-limiting, conditions (PubMed:19028996). Abolishes the production of fumiquinazoline C (PubMed:24612080)
Lethal to the male gametophyte
Not essential for cell growth. When grown in NH(4)Cl medium loss of magnetic response. Magnetosomes are much smaller with poorly defined morphology, poor crystallization and are irregularly distributed with large gaps. They are wild-type in number, are magnetite but predominantly superparamagnetic instead of single-domain (PubMed:20023033). When grown in NO(3-), nitrate, single deletion cells are nearly wild-type; in this study NH(4)Cl-grown single deletion cells make a few wild-type magnetosomes in addition to poor crystals in chains, i.e. the phenotype is not as extreme as in the previous study (PubMed:24272781). Deletion of 4 consecutive genes (mamY, mamX, mamZ, ftsZm) leads to cells with an intermediate magnetic response where magnetosomes have short chains of nearly regularly shaped, cubo-octahedral crystals flanked by small particles with poorly defined morphologies (PubMed:22043287)
Mutants show increased resistance to nitric oxide donors, increased sensitivity to reducing agents, and growth reduction at pH 7.0 and in the presence of lysozyme. They increase macrophage apoptosis, and exhibit lower rates of survival and multiplication in an in vitro macrophage model of infection
ZCCHC8-null mice have a small brain volume, cranial deformities with domed-shaped heads, and severe hydrocephalus with ventriculomegaly. Defective turnover of low abundance RNA polymerase II transcripts is detected in developing brain of knockout animals
Increased sensitivity to superoxide stress inducers methyl viologen and menadione. Grows poorly in the absence of cysteine
Mice appear healthy, and have normal numbers of peripheral lymphocytes, eosinophils and neutrophils. Basophil numbers are normal in bone marrow, but are markedly increased in peripheral blood and spleen. Likewise, mutant mice have an increased number of mast cells in the small and large intestine. Both mast cells and basophils show increased proliferation in response to extracellular ATP. Mutant mice display normal immediate reaction to allergens, but strongly increased chronic allergic inflammation in skin, intestine and lung that lead to severe tissue damage. Extracellular ATP levels are normal in the absence of allergen, and strongly increased after exposure to allergen, due to impaired clearance of extracellular ATP (PubMed:25692702). Mutant mice display increased levels of extracellular ATP in the lumen of the small intestine. They have decreased numbers of plasmacytoid dendritic cells in the small intestine lamia propria and in Peyer patches; the decrease is due to increased ATP levels that cause increased apoptosis of plasmacytoid dendritic cells (PubMed:28225814)
Conditional knockout in the retina results in mice which are viable, fertile, and morphologically normal apart from microphthalmia with severe defects in visual response (PubMed:22398208). From 13.5 days post-conception (dpc) retinas show variable morphology, including retinal folding, variable thickness and disorganization (PubMed:22398208). Postnatally the retinal lamina is thinner, and disorganized, with a shortening or absence of the inner and outer segments of photoreceptor cells (PubMed:22398208). By postnatal day 60 retinas are completely or partially devoid of the outer nuclear layers and photoreceptor layer, and feature a reduced number of photoreceptor cells, disrupted cell polarity and impaired distribution of retinal neurons (PubMed:22398208). Retinal distribution of Par3 and the Crb polarity complex proteins Crbs and Patj is disrupted (PubMed:22398208). Mature mice show aberrant proliferation and apoptosis of retinal epithelia with significantly reduced or undetectable a- and b-waves in electroretinogram-measured dark-adapted response (PubMed:22398208). Conditional knockout in cerebellum proliferating progenitors at 13.5 dpc results in mislocalization of apical polarity complex proteins such as Crb proteins, Pard3, and Prkci at 15.5 dpc (PubMed:26657772). Following cerebellum conditional knockout there is an increase in migration and premature differentiation of Pax2-positive ventricular zone cells at 17.5 dpc, resulting in a reduced number of glial cell progenitors (PubMed:26657772). Conditional knockout in cerebellum results in stunted cerebellum growth and indistinct vermis foliation at birth, there is also an evident reduction of Bergmann glia, oligodendrocyte, astrocyte and GABAergic interneuron progenitors (PubMed:26657772). Conditional knockout in cerebellum shows compromised Purkinje cell migration and formation failure of Purkinje cell plate to contain both Bergmann glia and Purkinje cells, possibly as a result of abnormal Reln-Dab1 signaling at P6 (PubMed:26657772). Conditional knockout in cerebellum results in poorly layered, smaller lobes, severe defects in fissure formation and a reduced number of cerebellar granule neurons and GABAergic interneurons from P8 to P21 (PubMed:26657772). Conditional knockout in the cortex results in mice surviving to adulthood, with lower body weight but exhibit irregular movements with disrupted stride and gait, reduced exploratory initiative, reduced locomotor behavior and swim in circles (PubMed:20399730). Reduced cortical size and disrupted morphology at 12 and 14 dpc resulting in the absence of the cortex postnatally lacking virtually all cortical neurons, additionally extreme thinning of the lateral cortex is observed (PubMed:20399730). Reduced proliferation of cortical progenitor cells and increased cell death of postmitotic neurons in the developing medial cortex and ventral zone from 10.5 dpc, additionally mislocalization and reduced abundance of Crb2 and Prkci is evident (PubMed:20399730). RNAi-mediated knockdown in the sciatic nerve results in mislocalization of Exoc4/Sec8 and Stx4 in Schwann cells and thinning and shortening of Schwann cells as a result of a reduction in the myelinated fiber diameter caused by fewer myelin turns (PubMed:20237282). Conditional knockout of both Mpp3 and Pals1 in the retina results in an increase in retinal degeneration that becomes evident at one month of age (PubMed:23893895)
Homozygous knockout mice for Tmem160 are healthy and fertile and display normal motor function regarding coordination and locomotion as well as similar somatosensory thresholds for mechanical (tactile) and heat stimulation as wild-type littermates (PubMed:34936870). Homozygous knockout male mice show a delay establishment of tactile hypersensitivity and alterations in selfgrooming after nerve injury (PubMed:34936870). Conditional knockout mice lacking Tmem160 in sensory neurons of dorsal root ganglia (DRG) are healthy and fertile (PubMed:34936870)
Cells lacking this gene accumulate desmycosin (tylosin B)
Mutant loses the ability to utilize proline as either sole nitrogen or sole carbon source
Reduced number of tillers and reduced biomass
No visible phenotype in neonates (PubMed:26903241). Mice do not show obvious defects in survival, except a moderately reduced body weight (PubMed:23334419). They however display hyperactivation of non-canonical NF-kappa-B without affecting canonical NF-kappa-B activation. Mice show B-cell hyper-responsiveness to antigens, lymphoid follicular hyperplasia in the intestinal mucosa and elevated host-defense ability against an intestinal bacterial pathogen, Citrobacter rodentium (PubMed:23334419). At 12 months after birth, mutant mice display impaired T cell homeostasis with increased numbers of naive T cells and reduced numbers of Th1 memory-like T cells (PubMed:26903241). Young adults that have no overt change in T cell homeostasis still show impaired production of effector T cells in response to repeated stimulation with an antigen and an impaired defense against infection by L.monocytogenes (PubMed:26903241). Conversely, mutant mice are less susceptible to experimentally induced autoimmune encephalitis (PubMed:26903241)
Post-germination growth arrest
No visible phenotype (PubMed:27178841). Fibroblasts from mutant mice display a disordered actin cytoskeleton with a reduced width of the actin stress fibers. Likewise, these cells have several microtubule-organizing centers (MTOCs) and a disordered microbutule network (PubMed:27178841)
RNAi-mediated knockdown results in increased expression of the lin-41 protein, which is a target of the let-7 microRNA
Deletion mutant does not show any growth-related or morphological phenotype under the tested conditions
25-fold reduction in cytopathic effects in human monocyte-derived macrophages
Morpholino tmem163a knockdown severely affects central nervous system development. Morphant larvae display locomotor disability, decreased survival, and myelin deficits associated with a reduced number of oligodendrocytes
Increased tolerance to freezing stress and higher accumulation of CBF genes and downstream genes under cold treatment
Defects in somite lineages. Secondary trunk myogenesis is reduced, as well as appendicular and hypaxial muscles and their progenitors. These cell types derive from the external cell layer (ECL) and ECL cell numbers are reduced. The endotome is expanded at the expense of a second somitic cell type. The resulting increase in endotome-derived cells that migrate to colonize the dorsal aorta generates a dramatic increase in chemokine-dependent hematopoietic stem cell (HSCs) induction
High neonatal mortality rate. Reduced body size in surviving mice which is observed as early as embryonic day 15.5 and remains significant in adults
Loss of posterior structures and beta-catenin (ctnnb1)-dependent gene transcription due to the absence of accumulation of beta-catenin (ctnnb1) in the nucleus (PubMed:25183871). Fishes show reduced regenerative outgrowth following amputation due to decreased cell proliferation (PubMed:19014929)
No visible phenotype under normal growth conditions, but the double mutants seu and slk1 are short in stature, sterile and display strong disruptions of floral development and high frequency of female gametophyte disruption (PubMed:20007451). Enhanced tolerance to salt and osmotic stress conditions (PubMed:24564815)
No effect on autophagy during nitrogen starvation
Mutant worms have decreased egg-laying capacity at 20 degrees Celsius, and decreased hatching rate and smaller brood size at 25 degrees Celsius. They also show delay in growth to adulthood and an extended life span. Mutant worms have high D-Glu content at both egg and young adult stages and a high L-Trp level at young adult stage but do not show any change in physical appearance
MYO3B single knockout mice do not exhibit early hearing impairment whereas mice with a double knockout of MYO3A and MYO3B are profoundly deaf at 1 month of age. Cochlear hair bundles have abnormally long stereocilia and show dynamic shape defects during development
Full embryonic lethality at about 10.5 dpc with failure of primitive middle streak assembly and absence of trunk mesoderm formation
Complete ethylene insensitivity (PubMed:10381874). Extreme salt sensitivity during seed germination and plant growth leading to epinastic backward growth of leaf blade and petiole, and small rosette size (PubMed:21631530). Reduced ethylene-induced histone acetylation of H3K14 and H3K23 associated with a lower induction of ethylene-responsive genes (PubMed:27694846, PubMed:28874528)
First leaves are elongated and curl downward. Presence of stigmatic tissue in the middle of the septum at the apical end of the carpels. Altered post-transcriptional gene silencing (PTGS). Accumulation of ARF4 mRNA (targeted by TAS3-derived siRNAs). Upon infection, over-accumulation of CMV RNA and enhanced susceptibility to cucumber mosaic virus (CMV). Reduced levels of TMV-cg-derived small RNAs
SMARCD2 knockout mice show aberrant hematopoiesis, characterized by defective myeloid and erythroid differentiation, a reduction in granulocyte/macrophage progenitors as well as reduced neutrophil granulocytes and monocytes. Knockout embryos die late during fetal development and are characterized by reduced size, pallor, and decreased temporal vascularization
Imeairs expression of the sterigmatocystin cluster genes
Decreased relative stomata aperture under normal growth conditions (PubMed:25002225). No visible phenotype under normal growth conditions, but mutant plants display decreased sensitivity to abscisic acid (ABA) during seed germination (PubMed:26508764)
Reduced L-phenylalanine hydroxylation. Lack of a yellow-orange pheomelanine-like pigment in the cuticle. Higher cuticle resistance to physical or chemical disintegration factors or oxidizing environments. Increase in superoxide dismutase activity. Increased life span. In a bli-3(e767) mutant background, growth arrest in early larval development, severe cuticle abnormalities with large blisters and increased superoxide dismutase activity. RNAi-mediated knockdown together with fah-1 RNAi partially rescues the impaired growth and fertility defects in the single fah-1 RNAi mutant (PubMed:18227072)
Mice are viable and live well, but show substantially reduced levels of triacylglycerides in all tissues (PubMed:10802663, PubMed:11959864, PubMed:11956242). Mice are resistant to obesity when kept on a high-fat diet due to increased energy expenditure: they display reduced postabsorptive chylomicronemia and accumulate neutral-lipid droplets in the cytoplasm of enterocytes (PubMed:10802663, PubMed:11959864, PubMed:11956242). Mice also show increased sensitivity to insulin and to leptin and are protected against insulin resistance (PubMed:11956242). Mutant mice show reduced levels of monoalkyl-monoacylglycerol (MADAG) in the adrenal gland (PubMed:28420705)
Variegated cotyledons, malformed leaves, growth retardation and impaired root growth. Defective in protein import into chloroplasts during early developmental stages
Mutant is defective in heme utilization
No effect on iraD expression
Stabilizes the adenosylphosphosulfate kinase MET14 which leads to accumulation H(2)S and SO(2)
Eyes are scarlet due to a defect in brown pigment production (PubMed:10407069). In larval Malpighian tubules and pupal eyes, kynurenine uptake is impaired resulting in a severe decrease in 3-hydroxykynurenine production (PubMed:812484). In the head, levels of neurotransmitters histamine, dopamine and serotonin are reduced (PubMed:18931318). In addition, in lamina photoreceptor terminals R1-R6, numbers of synaptic vesicles and capitate projections, which are sites of endocytosis of vesicle membrane, are reduced (PubMed:18931318). Reduces the levels of several metabolites, including tryptophan, kynurenine, 3-hydroxykynurenine, guanosine, and, to a lesser extent, xanthine and riboflavin, and increases the levels of guanine and tetrahydrofolate (PubMed:33820991). 3-fold reduction in Malpighian tubule zinc stores (PubMed:29367274)
Cannot be disrupted, suggesting it is a functional antitoxin. No visible phenotype when the parDE4 operon is deleted
After germination, roots display aberrant divisions in the quiescent center (QC), but normal radial cellular organization. Reduced SCR expression in the quiescent center (QC). The double mutant jkd bib exhibits ectopic divisions in the ground tissue (GT) region leading to an additional layer at the root pole of mature embryos and seedlings, thus resulting in roots with wider meristems and additional layers between the central stele and the epidermis as well as an increased cell number per layer leading to unclear morphological tissue distinctions; in root meristems, only a dynamic subset of layers expresses SCR, restricted to the stele-adjacent layer at the root pole, and specific to ectopic dividing tissues. In the double mutant, SHR accumulates in the expanded inner vascular tissue and in all surrounding cell layers, including epidermis, with inefficient nuclear retention. The quadruple mutant line jkd mgp nuc scr has short root meristems, lacks endodermis and miss Casparian strip
Impaired protein polarity (PubMed:18316412, PubMed:20823068). Lengthened AB and P1 cell cycle times (PubMed:18316412, PubMed:20823068). RNAi-mediated knockdown causes defects in germline mitosis including cell-cylce arrest and formation of polyploid nuclei (PubMed:22018922). RNAi-mediated knockdown in plk-2 mutant background causes a loss in sun-1 phosphorylation at 'Ser-8' but not at 'Ser-12' (PubMed:22018922)
Normal germination, but chloroplast-division defect and late dwarf phenotype. Lesion formation on leaves when grown under short-day conditions. Cpn60B1 and cpn60B2 double mutant produces small albino seedlings
Malfunction of the NDH complex (PubMed:18974055, PubMed:18785996). H(2)O(2) accumulation in Dark-Light transition (PubMed:18974055)
Mutants show ciliary loss with disappearance of axonemal dynein arms and diminishment of dynein arm heavy chains in the cytoplasm. They have reduced beat frequency and dyskinetic motion of the remaining ventral cilia
Leads to pleiotropic defects such as hypersensitivity to divalent cations and a number of drugs such as cycloheximide, miconazole, 4-nitroquinoline, fluconazole, and sodium dodecyl sulfate (PubMed:10722850). Leads also to sensitivity to the Golgi-destabilizing drug brefeldin A (PubMed:10722850)
Increased telomere length
Deletion of this gene enhances the deposition of PHB in the logarithmic phase in nutrient-rich medium
Impairs conidiophore formation
Decreased growth rate in pyrimidine-free medium, extreme derepression of the pyrimidine biosynthetic operon, and decreased, but detectable dihydroorotate dehydrogenase activity
Does not affect the susceptibility to azoles (PubMed:29378705). Causes further increase in susceptibility toward fluconazole and itraconazole, when AFR1 and MDR1 are also deleted (PubMed:29378705)
Shorter roots, slow growing and reduced seed set (PubMed:20943851). Slightly reduced male transmission and retarded pollen tube growth (PubMed:28356503, PubMed:20943851). Complete inactivation of pollen-specific transmission due to abnormal pollen tube growth in plants lacking both EXO70C1 and EXO70C2 (PubMed:28356503)
Increased resistance to abscisic acid (ABA) in the seed germination and primary root growth
Reduction of neurons in the locus coerulus of the developing cortex. Defects in circadian behavior. Hyperreactive lymphocytes, late-onset immunopathology and hypersusceptibility to Th17-dependent experimental autoimmune encephalomyelitis
Decreased spermatogenesis with less complete filling of seminiferous tubules but fertility does not appear to be affected
Adipocyte-specific knockout mice have reduced adipose tissue mass and develop hepatosteatosis with insulin resistance and hyperglycemia
Altered transport of storage proteins to the protein storage vacuole (PSV)
Mutant releases elevated levels of the sortase substrate YfkN into the culture medium upon phosphate starvation (PubMed:21800427). Inactivation of the gene abolishes the cell wall anchoring of a fusion protein composed of a beta-lactamase reporter and the C-terminal region of the sortase substrate YhcR (PubMed:22020651)
Early flowering in both long and short days conditions, but in a temperature sensitive manner only in short days
Abolishes the production of both oxepinamide F and oxepinamide E and leads to the accumulation of protuboxepin K
A double dddA-dddI deletion has a 100-fold growth disadvantage compared to wild-type in competition experiments
Mutant mice have normal development and lack symptoms of disease or organ malformation (PubMed:24368771). Become hypertensive in response to high sodium or high potassium diets (PubMed:24368771, PubMed:24966089)
Embryonic lethal (PubMed:10511559). RNAi-mediated knockdown results in failed nuclear import of phosphorylated Mad in response to activation of the dpp signaling cascade (PubMed:21696798). RNAi-mediated knockdown results in altered karyosome morphology, in the reduction of Nup62 association with the nuclear envelope and its accumulation in the cytoplasm (PubMed:26341556). RNAi-mediated knockdown of Nup62 in combination with Nup154 rescues the phenotype of the Nup62 knockdown restablishing correct kariosome morphology and chromatin detachment from the nuclear envelope (PubMed:26341556)
Inactivation causes no changes in the cell morphology or growth rate of exponentially growing cells
Viable with locomotory defects which may be attributed to impaired GABAergic motor neuron function (PubMed:26387713, PubMed:26083757). Hypersensitive to the drug aldicarb which may be indicative of abnormal GABAergic signaling (PubMed:26083757). Premature postsynaptic remodeling/formation of DD GABAergic motor neurons in animals at larval stage L1 with remodeling/formation occurring 8-16 hours posthatching as opposed to 14-18 hours posthatching in wild-type animals (PubMed:26387713). Mislocalization of postsynaptic proteins with increased dorsal to ventral translocation of the acr-12 receptor in VD GABAergic motor neurons at larval stages L2 and L4; leading to no acr-12 puncta in the dorsal nerve and probably contributing to improper formation of synaptic inputs and ectopic postsynaptic remodeling/formation of VD motor neurons (PubMed:26387713, PubMed:26083757). Abnormal ectopic clustering of the postsynaptic receptor unc-49 along the dorsal nerve cord of DD GABAergic motor neurons (PubMed:26083757). Abnormal clustering of the presynaptic proteins snb-1 and rab-3 along the dorsal nerve cord of DD GABAergic motor neurons (PubMed:26083757). Additionally, aberrant localization of presynaptic proteins in VD GABAergic motor neurons with increased puncta for presynaptic proteins including snb-1, rab-3 and syd-2 in the dorsal nerve cord, but fewer puncta in the ventral nerve cord at larval stages proceeding the L1 larval stage, probably indicative of impaired and ectopic presynaptic remodeling/formation (PubMed:26387713, PubMed:26083757)
Becomes sensitive to some antibiotics (chloramphenicol, puromycin and tetracycline) but not to others (erythromycin, rifampicin and fusidic acid)
Embryonic lethality around embryonic day 10.5 concomitant with massive growth retardation and cardiac developmental defects seen
No visible phenotype (PubMed:29949756). Mutants are viable and develop normally with no overt phenotypes later in life (PubMed:29949756). In the fed state, no effect on mitochondrial respiratory activities in cardiac or skeletal muscle fibers but, in fasted mutants, skeletal muscle fibers and left ventricular fibers show significantly lower rates of maximal fatty acid oxidation relative to wild-type controls (PubMed:29949756). Left ventricular fibers also show reduced mitochondrial calcium retention capacity (PubMed:29949756). Aberrant distribution of respiratory chain complex I (CI) with distinct loss of a high-molecular weight supercomplex and concomitant increase in free or disassembled CI-associated complexes (PubMed:29949756). Severely decreased presence of dimers of the mitochondrial 2-oxoglutarate dehydrogenase OGDH and the mitochondrial acyl-CoA dehydrogenase ACAD9 (PubMed:29949756). Significantly altered distribution of the mitochondrial acyl-CoA dehydrogenase ACADVL/VLCAD (PubMed:29949756). Impaired muscle formation, muscle weakness and impaired muscle regeneration due to defects in satellite cell differention (PubMed:32393776)
Cells lacking this gene show no apparent growth, sporulation, or germination defect. Also shows no defect in the synthesis of the membrane-bound CccB cytochrome or any other cytochrome with covalently bound heme
Defects in seed germination under salt or cold stress (PubMed:17376161). Altered seedling growth under cold stress (PubMed:17376161). Delayed growth and late flowering associated with reduced mitochondrial RNA editing efficiency, including the cis-splicing of the first intron of the NAD5 transcript (PubMed:28549172). The triple mutant srbp1 srbp2 srbp3 is more susceptible to tobacco rattle virus (TRV) (PubMed:31812689)
Defects in dendritic spine morphogenesis along with thin postsynaptic density and reduced synaptic transmission of pyramidal neurons (PubMed:31600191). Reduced postsynaptic density protein levels of Grin1/Nmdar1, Grin2a/NR2A, Grin2b/NR2B and Gria1/GluR1 (PubMed:31600191). Significantly reduced acetylation of Cttn (PubMed:31600191). Autism-like behaviors including excessive repetitive self-grooming, reduced vocalization time and impaired social interaction (PubMed:31600191)
Embryonic lethality at dpc 13.5 (PubMed:34707288). Embryos are pale due to a severely anemic phenotype (PubMed:34707288). Conditional deletion in the erythroid lineage also leads to severe anemia, characterized by a complete absence of Ter119(+) cells, iron overload and increased apoptosis in fetal liver cells (PubMed:34707288). Cells lacking both Slc25a39 and Slc25a40 show defects in the activity and stability of proteins containing iron-sulfur clusters (PubMed:34707288)
Impaired plasmodesmata (PD) mediated cell-to-cell communication (PubMed:29284002). Altered choline metabolite profile. Several phenotypic abnormalities (e.g. dwarf with defects in both shoot and root architecture), including reduced pore density and altered pore structure in the sieve areas, associated with defective symplastic transport through phloem. Increased number of sieve elements (SE)-like cells instead of two companion cells (CCs) and two SEs. Defects in procambium maintenance and phloem patterning. Abnormal retaining of desmotubules in the symplastic space in sieve pores (PubMed:25008948). In cher1-4, impaired secondary plasmodesmata (PD) formation and development leading to starch and soluble sugars excess accumulation, and stunted growth. Altered PD localization of the luteoviral movement protein MP17. Reduced level of choline and phosphocholine (PubMed:27743414). Altered ion profile due to both PD defects and ion transporter misregulation. Increased leaf concentrations of sodium (Na), lithium (Li), boron (B) ions, and decreased leaf concentrations of phosphorus (P), potassium (K), calcium (Ca), cobalt (Co), nickel (Ni), and copper (Cu), manganese (Mn), iron (Fe), zinc (Zn) and molybdenum (Mo) ions. Defects in leaf and root elongation as well as fewer leaves are also observed, associated with irregular cell organization in roots, probably as a result of irregular cell division (PubMed:29284002). Impaired intracellular trafficking of PIN-type auxin transporters (e.g. PIN1 and PIN3) to the plasma membrane, resulting in abnormal seedling growth, lack of apical dominance, cell elongation defect and apical hook development. Perturbated membrane lipids (e.g. phospholipids and sphingolipids) homeostasis. Reduced sensitivity to auxin (e.g. 1-naphthylacetic acid, NAA) (PubMed:29283991)
Reduction of mitochondrial motion in the anterograde direction and increase of mitochondrial motion in the retrograde direction in response to hypoxia (PubMed:19528298). The number of motile mitochondria is not altered (PubMed:19528298). Neocortical neurons exhibit a remarkable increase of the dendritic number and the axon length (PubMed:24323429). Neuronal cells show an increase in the percentage of round mitochondria and a decrease in the percentage of rod or tubular mitochondria (PubMed:24323429)
Leads to the accumulation of stipitaldehyde (PubMed:22508998, PubMed:24863423)
Deletion mutant is impaired in growth on ectoine as a sole carbon source
Deletion of the gene affects the levels of over 800 mRNAs (PubMed:24163345). Deletion mutant overexpresses flagellin and other genes of the sigma-D-dependent motility regulon. In contrast, the two major operons for biofilm formation are not expressed and the mutant is unable to form biofilms. All cells are short and motile (PubMed:21856853). Deletion also results in a significant decrease in intercellular molecular exchange (PubMed:26906740). Mutant displays aberrant developmental patterns and forms smaller colonies (PubMed:26904951)
No visible phenotype. Hbx2 and warA double mutants form fruiting bodies with an enlarged basal disk and lower portion of the stalk and the anterior of slugs is not as cylindrical as that of wild-type slugs
Inactivation significantly enhances staphylococcal nitric oxide susceptibility
Leads to defects in hemin and hemoglobin utilization as sole source of iron
Flies display defects in wingless (wg) and hedgehog (hh) signaling, probably due to the lack of sulfation of glycosaminoglycans by sulfotransferases such as sfl
Mice are fertile and look healthy but display impaired cytokine production in dendritic cells (PubMed:21277849). Reduced uptake of L-histidine in brain (PubMed:27845049)
Dwarf plants and accumulation of the precursors of the two major storage proteins albumin 2S and globulin 12S in dry seeds
STRUBBELIG-like (sub-like) mutant (SLM) phenotype characterized by defects in outer integument development, floral organ shape, and stem twisting, as well as cellular defects in the floral meristem and in root hair patterning (PubMed:19180193). Alterated pistil morphogenesis, such as twisting of the gynoecium, as a result of abnormal division patterns and anisotropic growth of clustered epidermal valve cells arranged sporadically along the gynoecium, phenotypes associated with disorganised cortical microtubule (CMT) networks; twisting of organsm is strongly reduced by a concomitant mutation in BOTERO (PubMed:24173806). Double mutants sub/scm qky and qky poq have a stronger pistil twisting than single mutants (PubMed:24173806). The triple mutant qky sub/scm poq has a dramatic pistil twisting phenotype due to defects of valve cell growth anisotropy (PubMed:24173806)
Reduces significantly the induction of the FBD cluster gene FPSE_08120 in response to 2-aminophenol (2-AP) treatment
Increased begomovirus infection symptoms. Up-regulation of the ribosomal protein genes
Male infertility, reduced testis weight, impaired maturation of elongating spermatids, abnormal sperm shape and ultrastructural defects in microtubule and mitochondrial organization (PubMed:35700329). Epididymal sperm display multiple flagellar malformations including coiled, bifid or shortened flagella, and erratic acrosomal development (PubMed:35700329). Mislocalization of Sept10 in sperm (PubMed:35700329). Females display no fertility issues (PubMed:35700329)
Flies specifically display visual defects. These range from reduced ocelli and ommatidia number in weak loss-of-function phenotypes to complete absence of compound eyes and bolwig's organ in more severe lethal phenotypes
Causes only a modest decline in CLB2 cluster genes expression, but this expression is abolished when both FKH1 and FKH2 are deleted (PubMed:10959837). Leads to a defect in silencing HMRa (PubMed:10747051). Causes a form of yeast pseudohyphal growth, when FKH2 is also deleted (PubMed:10747051). Affects cell-cycle progression and CLB2 mRNA expression (PubMed:10747051). Leads to defect in pre-mRNA 3' end formation during transcription of targeted genes (PubMed:12702877)
Slight reduction in seed size
Does not affect the biosynthesis of roquefortine C and meleagrin (PubMed:23776469)
Mice are born at the expected Mendelian rate and appear normal, but die between one and twenty days after birth, due to severe bleeding. In about 75% of the cases, subdural bleeding is observed, in addition to intracerebral and intramuscular bleeding. Daily oral administration of vitamin K to the mutant mice leads to normal survival, but the mice die within seven days after the cessation of vitamin K administration. Besides, both homozygous and heterozygous mutant mice display defects in bone development with reduced length of the calcified part of the long bones in front and hind limbs
Host cells display apoptosis caused by strongly increased CASP8 activation
No visible phenotype. Spores have normal morphology, heat-resistance, cortex structure, and germination and outgrowth properties
Acadl deficiency results in significant gestational loss of embryos (PubMed:9861014). Homozygous knockout mice that achieve birth display severe fasting intolerance with subsequent hepatic and cardiac lipidosis, hypoglycemia, elevated serum free fatty acids, non-ketotic dicarboxylic aciduria, and myocardial degeneration (PubMed:9861014)
Disruption of this gene interrupts lipoate-dependent reactions, which strongly inhibits growth in minimal medium, impairing the generation of branched-chain fatty acids and leading to accumulation of copious amounts of straight-chain saturated fatty acids in B.subtilis membranes
The LF-1 strain contains a frameshift causing a premature stop codon within ctpA. This strain is unable to process the precursor form of D1
Reduced growth rates
Mice show randomization of the embryo turning process and heart looping, which are hallmarks of defective left-right (LR) axis patterning. Motile monocilia normally present at the surface of the embryonic node, and proposed to initiate the break in LR symmetry, are absent. Furthermore, defects in central nervous system development are observed. The Sonic hedgehog (Shh) pathway is down-regulated in the neural tube, resulting in failure to establish ventral neural cell fate
Mutant embryos have elongation arrested immediately before or at the 2-fold stage. They display a large vacuole in the posterior region
No obvious phenotype due to the redundancy of GRK subtypes in the regulation of GPCR signaling. Deficient mice are viable and showed no anatomic or behavioral abnormalities, only a slight decrease in body temperature. However deficient mice shown altered central and lung M2 muscarinic receptor regulation, with normal heart M2 receptor regulation. GRK5 deficiency leads to a reduced hippocampal acetylcholine release and cholinergic hypofunction by selective impairment of desensitization of presynaptic M2/M4 autoreceptors and promotes amyloid-beta accumulation
Mutant mice exhibit increased cancellous bone mass and no loss of trabecular bone characteristics (PubMed:12421822, PubMed:26051469). They also exhibit decreased biomechanical strength in their bones and increased skeletal mineralization (PubMed:15843468). In craniofacial complex development, mutant mice also exhibit hypermineralization in predentin, dentin and enamel of teeth and decreased expression of AMBN, ENAM, IBSP, DMP1, DSPP and SPP1 (PubMed:26927967). Mutant mice also exhibit hyperphostatemia and increased expression of SLC34A1/NPT2a, SLC34A3/NPT2c and VEGF in the kidney (PubMed:26051469). Hyperuricemia and reduced fractional excretion of uric acid was also exhibited (PubMed:26051469). As mutant mice age, bone mineral density and content is increased (PubMed:26051469)
Slighty reduced chitin-induced cell wall modification compared to wild-type. Significantly reduced chitin-induced MPK phosphorylation. The levels of mRNAs of the defense-related PAL4 and CHS are being less induced following chitin treatment
Results in larval lethality in XX hermaphrodites; survivors exhibit shorter and stouter body morphology and are egg-laying defective (PubMed:2917714). Male animals are viable (PubMed:2917714). Higher percentage of spontaneous males through X chromosome non-disjunction (PubMed:2917714). Disrupts protein stability of dpy-27 (PubMed:8939870). Disrupts localization of dpy-28 and of capg-1 to the hermaphrodite X-chromosome (PubMed:18198337, PubMed:19119011). RNAi-mediated knockdown results in chromosome segregation defects in mitosis and meiosis (PubMed:19119011). In a sex-1 mutant background, leads to high embryonic lethality (PubMed:19119011)
Increased sensitivity to photo-oxidative stress induced by drought, high light or paraquat, associated with a rapid accumulation of hydroxy fatty acids mediated by singlet oxygen (PubMed:19674405). When associated with disruption in TIL, highly sensitive to temperature, drought and light stresses than the single mutants, exhibiting intense lipid peroxidation. Seeds of this double mutant are very sensitive to natural and artificial aging, associated with the oxidation of polyunsaturated lipids (PubMed:23837879)
Mutants show normal growth in iron-sufficient conditions, but show a growth defect under iron-deficient conditions
Results in enhanced production of cytokinins (PubMed:28802024)
Increased replication of turnip crinkle virus (TCV) and cucumber mosaic virus (CMV) (PubMed:18785827, PubMed:24418554). Normal HRT-mediated hypersensitive response (HR) and resistance to TCV (PubMed:18785827). Delayed flower development in antisense asTIP plants (PubMed:24418554)
Death by 11.5 dpc. At 9.5 dpc and 10.5 dpc, almost all major tissues are proportionally smaller, and the neural tube is shrunk in some embryos. Dramatically reduced cell proliferation and increased apoptosis are observed in 9.5 dpc and 10.5 dpc embryos. Embryonic fibroblasts stop to grow after 2 or 3 passages and exhibit increased apoptosis and decreased DNA synthesis compared with wild-type
RNAi-mediated knockdown results in delayed primordium formation
RNAi-mediated knockdown leads to decreased lifespan, increased susceptibility to oxidative stress and an increase in apoptotic cells in the central brain (PubMed:33889951, PubMed:20869434, PubMed:23124252). Exposure of young (10-15 days old) flies to paraquat or hydrogen peroxide leads to decreased resistance to oxidants (PubMed:20869434). Reduced survival rate under oxidative stress conditions; further decrease in responsiveness to oxidative stress with age (PubMed:23124252). Affects coordinated motor behavior, such as shorter distance covered in a given time interval (15% reduction) and reduced velocity (16% reduction) compared to wild-type animals (PubMed:33889951). RNAi-mediated knockdown in neurons and glia, but not in muscles, significantly affects motor behavior (PubMed:33889951). Pan-neuronal RNAi-mediated knockdown reduces distance covered over time by 14%, with velocity during periods of moving being reduced by 13% compared to control animals (PubMed:33889951). Pan-glial RNAi-mediated knockdown reduces the distance covered by 7% and velocity during periods of moving by 8% (PubMed:33889951). RNAi-mediated knockdown in a Prx5 null mutant background leads to mean life span reduction from 55-70 days to 12.8 days and, after appearing relatively normal for the first 9-11 days after eclosion, animals undergo a very rapid increase in mortality rate (PubMed:20869434). Accelerated pro-oxidizing shift in the redox state (PubMed:20869434). Increase in the number of cells undergoing apoptosis in the thoracic muscles, digestive tract and oenocytes (PubMed:20869434). Reduction in night activity offset and age-dependent increase in temperature sensitive paralysis (PubMed:33585478). RNAi-mediated knockdown in motor neurons in a Prx5 null mutant background shortens life span and decreases negative geotaxis and phototaxis (PubMed:33585478)
Mutant animals generate fewer progeny and slower larval development
Inactivation of the gene substantially reduces adherence to monolayers of HEp-2 laryngeal cells and A549 type II pneumocytes, as well as to cultures of normal human bronchial epithelium (NHBE). Mutation does not affect the virulence in a mouse model of aerosol infection
Mutants mice exhibit reduced retinal capillary density, as compared to wild type animals, in all 3 retinal layers, nerve fiber layer, as well as inner and outer plexiform layers
No visible phenotype under normal growth conditions, but the double mutant plants cyp90c1 and cyp90d1 exhibit a characteristic brassinosteroid-deficient dwarf phenotype
Reduced growth, decreased cell wall xyloglucan content and increased aluminum resistance (PubMed:23204407). No visible phenotype under normal growth conditions (PubMed:23104861)
Slight reduction of pollen grain size
Morpholino knockdown of the protein causes notochord and cardiovascular abnormalities (PubMed:22116938). Fishes display a reduced heart rate and blood flow, coupled with an incomplete and irregular vascular patterning (PubMed:22116938)
Not essential. No effect on degradation of PbpB (PBP3, FtsI) upon depletion experiments (PubMed:19496931). No effect on processing of anti-sigma factors RskA, RslA and RsmA (PubMed:20545848)
Morpholino knockdown of the protein causes anteriorization of embryos, that exhibit enlarged heads and eyes, shortened tails and defective melanocyte and eye pigmentation
No visible phenotype under normal growth conditions (PubMed:22325353, PubMed:25569774). Loss of 3'-phosphatase activity and hypersensitivity to DNA-damaging agents (PubMed:22325353). Increased DNA methylation and transcriptional gene silencing (PubMed:22325353). Zdp ape1l double mutants are embryo lethal and cause DNA hypermethylation and down-regulation of imprinted genes in the endosperm (PubMed:25569774)
Deletion of the gene does not alter motility but largely reduces chemotaxis to acetate, pyruvate, propionate, and L-lactate
Deficient mice are fertile and developed normally. Deficient mice exhibit normal retinal function at 6 weeks, but they show increased susceptibility to retinal cell apoptosis of both cone and rod photoreceptors induced by high intensity illumination (PubMed:17032653). All- trans-retinol production in inner and outer segments of the photoreceptor is not affected in deficient mice (PubMed:22621924)
RNAi-mediated knockdown reduces RNAi activity (PubMed:21060810, PubMed:23217017). Levels of mobile elements TATE, SLACS, TAS-like and repeat element CIR74 siRNAs are reduced (PubMed:23217017)
Cells lacking this gene accumulate the colorless C30 carotenoid precursor 4,4'-diapophytoene
Deletion of the gene results in a drop in the chemotactic response toward alphaKG to close to background levels, but does not alter maize root colonization
Larvae are arrested at the L1 stage (PubMed:16684534). Larvae exhibit swollen vacuoles in the hypodermis of the head region, gradually spreading throughout the whole body (PubMed:16684534). Pharyngeal pumping ceases at L2 larval stage with many vacuoles covering the entire body (PubMed:16684534). Causes necrotic cell death in intestine and hypodermis (PubMed:16684534). RNAi-mediated knockdown causes sterility, formation of endomitotic oocytes in the proximal gonads, and impaired ovulation (PubMed:12853134). Diakinesis stage oocytes are displaced toward distal gonads (PubMed:12853134). Impaired yolk uptake by the oocytes from the pseudoceolomic cavities (PubMed:12853134, PubMed:16785323). Impaired acidification and food digestion of the intestine (PubMed:16684534). Causes an increase in the section of the excretory canal, which often has multiple lumens and abnormal whorls (PubMed:16785323). Does not affect alae formation in larvae (PubMed:16785323). Progeny is arrested at the embryonic stage or at the L1 larval stage (PubMed:12853134, PubMed:16785323). RNAi-mediated knockdown in embryos causes arrest at the one-cell stage (PubMed:12853134)
Increases the total average mutation rate 17-fold. No significant abnormality in lifespan or sensitivity to oxidizing agents such as hydrogen peroxide and methyl viologen (MV); due to the redundancy with other DNA glycosylases
Partially redundant with BXL1. Bxl1 and bxl2 double mutants have shortened siliques and curled leaf edges
Leads to sensitivity to antimony, tellurite, cadmium, and phenylarsine oxide
Significantly decreases pneumocandin production (PubMed:27494047)
Deletion of the gene disrupts proper SpaO/SctQ localization
Deletion mutant is radiosensitive
Dwarf plants
Deletion of the gene confers a weak resistance to growth inhibition by serine (PubMed:32743959). The deletion of the three permease-encoding genes aimA (ybeC), ybxG and bcaP results in an unprecedented resistance to serine up to 100 mM (PubMed:32743959)
Reduces zinc transport into the vacuole and hence limits the over-accumulation of zinc caused by the deletion of ZRT3
Decreases virulence on both potato and Nicitiana benthamiana
In presence of estrogen; decreases binding of host complement factor H protein and increases phagocytosis of the fungus by host (PubMed:34986357). Decreases virulence in presence of estrogen in a zebrafish larval model of infection (PubMed:34986357)
Cells lacking this gene are unable to grow in medium containing glucose as a sole carbon source but presents the same growth rate as the wild-type in asparagine-containing medium
Reduces the production of heptelidic acid
Leads to complete loss in kotanin biosynthesis, but accumulates the monomeric intermediate 7-demethylsiderin (PubMed:22945023)
Reduced fecundity and transgenerational sterility (PubMed:20661436). Increased germ cell apoptosis and hypersensitivity to ultraviolet and ionizing radiation and hydroxyurea-induced replication stress (PubMed:20661436, PubMed:24424777). Increased rad-51 foci in the mitotic and meiotic germline on autosomes, but not on X chromosomes (PubMed:20661436, PubMed:27010650, PubMed:24424777, PubMed:24939994). Chromosome fragmentation defects and unresolved diakinesis chromosomes in meiotic oocytes (PubMed:20661436, PubMed:27010650). Impaired DNA replication in germ cells (PubMed:24424777). Accumulation of brd-1 on chromosomes in mitotic germ cells (PubMed:24424777). In a him-3 mutant background, increased rad-51 foci and chromosome fragmentation (PubMed:20661436). RNAi-mediated knockdown of syp-2 leads to an increase of chromosome fragmentation (PubMed:20661436). In a him-6 mutant background, leads to synergistic lethality (PubMed:27010650). In a fem-3 or him-8 mutant background, RNAi-mediated knockdown leads to increased fragmentation of autosomes and asynapsed X chromosomes but not of X chromosomes in males (PubMed:24939994)
Increase in bacterial tetracycline sensitivity
RNAi-mediated knockdown in embryos is semi-lethal, with half of the mutants dying prior to gastrulation and display numerous vacuoles. Escaper embryos die at the third instar larval or early pupal stages, displaying black necrotic plaques
RNAi-mediated knockdown of the protein leads to impaired growth and development. In addition, it impairs the assimilation of enterobactin-bound iron
Leads to a delay in fruiting body maturation
Deletion mutant cannot utilize heme iron for normal growth
Contrary to LRRK1 knockout mice, LRRK2 knockout animals do not show obvious bone phenotypes. Osteoclast precursors differentiate into functional multinucleated cells
Increased sensitivity to sudden drops in temperature and paraquat treatment. Dark-grown plants die shortly after transfer to light. These phenotypes are associated with an accumulation of hydrogen peroxide and other ROS, which causes an oxidative stress that leads to a reduction in hypocotyl growth and sensitivity to light (PubMed:18671872). Severe defects in basal (BT) and acquired thermotolerance (AT) leading to death within 7 days. Stronger sensitivity to tert-butyl hydroperoxide, a reagent that induces lipid peroxidation (PubMed:19302169). Stronger sensitivity to high salt levels (NaCl) associated with membrane injury, chlorophyll b degradation and accumulation of chloride and sodium in chloroplasts (PubMed:20959419, PubMed:24028869). When associated with disruption in CHL, highly sensitive to temperature, drought and light stresses than the single mutants, exhibiting intense lipid peroxidation. Seeds of this double mutant are very sensitive to natural and artificial aging, associated with the oxidation of polyunsaturated lipids (PubMed:23837879)
Conditional knockout in hematopoietic cells leads to a reduction in the number of natural killer cell-committed progenitors in bone marrow, decreases the number of natural killer cells in bone marrow and spleen and reduces NFIL3 expression in bone marrow and splenic natural killer cells
Mutation strongly affects resistance to bile salts and toxic chemicals, and significantly decreases the resistance to antibiotics such as erythromycin, ampicillin, tetracycline, and norfloxacin. The mutant also has attenuated effects in the mouse model of infection
Leads to voriconazole sensitivity of the yap1-mutated voriconazole-resistant strain
Mutant is unable to grow on inosine as a sole purine source. Mutant shows slower uptake of uridine. The double mutant uriP-nupA is impaired in uridine transport
Mice suffer from late fetal or neonatal lethality. Mice overexpressing Rtl1 show notable overgrowth and morphological abnormalities of the placenta
Lack of responsiveness to MAMP eMax from Xanthomonas
Viable with no gross anatomical defects and females display normal courtship and copulation but are impaired in ovulation (PubMed:14623240). Many mature eggs are retained in the ovaries with mutant females laying significantly fewer eggs and taking much longer to ovulate an egg (PubMed:14623240, PubMed:26473732). Increased sleep with longer sleep bouts during the night and a greater number of sleep bouts during the day (PubMed:20223202). Severely impaired learning in appetitive olfactory conditioning which tests the capacity to learn and remember the odor associated with a sugar reward (PubMed:23345239)
Complete embryonic lethality before 13.5 dpc. Already at 3.5 dpc, the number of homozygous mutant embryos is lower than expected
Impairs the synthesis of anditomin but accumulates preandiloid A (PubMed:25216349)
Reduced levels of FLC expression and early flowering, but not redundant with FRI. Frl1 and frl2 double mutants flower earlier than frl1 single mutant, due to a partial redundancy
Plants do not show a phenotype similar to those of TERMINAL FLOWER 1 mutants
When associated with NAD-ME2 disruption, loss of NAD-dependent malic enzyme activity associated with an altered steady-state levels of sugars and amino acids at the end of the light period
Hipp20, hipp21 and hipp22 triple mutants are cadmium sensitive
RNAi-mediated knockdown causes hermaphrodite sterility characterized by the production of oocytes lacking an eggshell (PubMed:17869112). Prevents the polarized dispersal of cortical F-actin following oocyte fertilization without affecting the formation of the F-actin cap (PubMed:17869112). Impairs egg-4 and egg-5 cortical localization in oocytes (PubMed:19879147). Causes a loss of kinase mbk-2 cortical localization in oocyte in meiosis I (PubMed:17869113, PubMed:19879842, PubMed:19879147). RNAi-mediated knockdown in a mat-1 (ax227) mutant background, restores mbk-2 cytoplasmic relocalization and mbk-2-mediated degradation of pos-1 and mei-1 (PubMed:17869113). Simultaneous RNAi-mediated knockdown of mat-1 causes polyspermy and a failure to internalize egg-1 after oocyte fertilization (PubMed:20971008)
Non-motile, has no flagella, and has reduced expression of FlaA
Reduced sensitivity to osmotic stress during early seedling development. Increased proline accumulation and higher expression of stress-related genes (e.g. RAB18, RD29A, RD29B, AOX1A, ERD15, ERD1, COR15A, P5CS1 and P5CR) under drought stress
Young mutant mice appear normal and are fertile (PubMed:16009937, PubMed:17077387). However, they start to become obese after about 12 weeks and display enlarged adipocytes (PubMed:15746100, PubMed:16009937). The effects on plasma glycerol levels vary between experiments; some reports find no significant difference in plasma glycerol levels in fed animals (PubMed:15746100, PubMed:15998844, PubMed:17077387). Others report decreased plasma glycerol levels in fed animals (PubMed:15591341). After fasting, mutant mice display lower plasma glycerol levels than wild-type, and increased glycerol content in their adipose tissue (PubMed:15591341, PubMed:16009937). After fasting, mutant mice display lower blood glucose levels than wild-type (PubMed:15591341). Mutant mice display strongly increased glycerol levels in urine (PubMed:15998844, PubMed:17077387). Water permeability of brush border membranes is slightly reduced, but urinary concentrating ability is not altered (PubMed:15998844)
Mice were born at the expected Mendelian rate and are viable (PubMed:34737271). Mice are however slightly smaller and display reduced levels of poly-ADP-ribosylation (PubMed:34737271). Moreover, they are hypersensitive to ionizing radiation-induced DNA damage (PubMed:34737271)
Shows high sensibility to P.syringae pv. tomato infection
Essential, it cannot be deleted (PubMed:12601000, PubMed:17661085, PubMed:29403013). Knockdown experiments show decreased amounts of crRNA precursor processing (PubMed:29403013)
Viable with normal development, anatomy, motility, lifespan and brood size. Increased sensitivity to oxidative stress induced by rotenone and impaired avoidance behavior in response to the odorants 2-nonanone and 1-octanol and the pathogenic bacterium S.marcescens. Double knockouts with selt-1.2 are also viable with no visible phenotype
No visible phenotype under normal growth conditions, but mutant plants are hypersensitive to treatment with proline (PubMed:15548746). Hypersensitivity to heat stress (PubMed:19635803)
Essential. Cannot be deleted. Limited expression level affects growth, mycolic acid content and cell morphology
The homozygous knockout of Ccnt2 is embryonic lethal
Erected leaves with reduced lamina angles associated with lower cells length, reduced internode length and small spikelets and grains (PubMed:27879391). Impaired response to brassinolide (BL) (PubMed:27879391)
Delayed pollen hydration and impaired competitive ability due to a failure to interact with the stigma (PubMed:10655594, PubMed:20033440). Abnormal anther tapetum development (PubMed:26305561)
Embryos show a down-regulation of early pronephric markers lhx1a/lim1 and pax2a/pax2.1, and subsequent defects in renal structures. In addition, embryos at 72 hpf display pericardial edemas and kidney cysts characteristic of kidney failure
Suppresses aerial hyphal growth,reduced colony surface hydrophobicity on solid media, and increases the ratio of macroconidia to microconidia (PubMed:17054442, PubMed:24792348). Impairs production of fumonisins and fusarins, and reduces pathogenicity against maize seedlings (PubMed:22247572, PubMed:19382792, PubMed:24792348)
Formation of abnormal long root hairs
Plants have thinner stems with an altered wax composition, and are more sensitive to dehydration
Grows normally showing no detectable abnormalities in leaf or flower development under short or long day growth conditions. The pdlp2 and pdlp3 double mutant shows altered protein diffusion (measured using GFP). In pdlp1, pdlp2 and pdlp3 triple mutant there is inhibition of GFLV 2BMP tubule formation. Virus cell-to-cell movement is negatively affected. There is a 22% reduction in mean surface area of infection foci by GFLV and an approximately 12 h delay in long distance movement in comparison to wild-type plants. There is also a systemic delay in Cauliflower mosaic virus (CaMV) spread
Mutant mice lack lymph nodes. The development of Peyer's patches is compromised, detectable only in some mutants. Peyer's patches are much smaller in size less abundant when compared to wild-type littermates. T cell lymphopenia is a hallmark phenotype of TOX-deficient mice
Homozygous knockout fish for tmem39b are viable and fertile and seem normal. However, adult males have a significantly lower standard length and body weigh
RNAi-mediated knockdown in the G3 strain reduces survival following infection by E.coli bacteria but not following infection by S.aureus bacteria. Following P.berghei infection, the number of parasite oocysts in the gut is increased in the susceptible G3 strain due to a failure to kill or/and lyse ookinetes (the motile parasite zygote that enters the gut to form an oocyst). RNAi-mediated knockdown in the refractory L3-5 strain results in an increase in the number of killed and melanized ookinetes following P.berghei infection. Simultaneous knockdown of lectin CTL4 in the G3 strain (but not in L3-5 strain) causes an increase in the number of developing oocysts and a decrease in melanized ookinetes
Deletion mutant exhibits decreased growth rate compared to wild-type strain in standard culture medium (PubMed:35287590). In addition, the mutant shows decreased survival rate in macrophages (PubMed:35287590). Infected macrophages produce a significantly higher level of TNF-alpha and IL-6 mRNA expression (PubMed:35287590)
Grows poorly in the absence of zinc
No effect on the sensitivity to the inhibition of root elongation caused by IAA-Leu or IAA-Ala
RNAi-mediated knockdown introduced at L1 and young adult stages increases lifespan by 12% and 15% respectively
Inactivation of the gene alters expression of diverse loci (PubMed:19543378). Inactivation of the gene increases cellular c-di-GMP concentrations, increases biofilm formation, EPS production, attachment and pellicle formation, and causes cell aggregation (PubMed:19543378). It also abolishes swarming, decreases swimming motility by 40%, and affects colony morphology, converting white smooth wild-type colonies to red, wrinkly colonies (PubMed:19543378). Mutation reduces extracellular DNA (eDNA) and decreases cell lysis (PubMed:23766119). The tpbA-tpbB double mutation restores eDNA to that of the wild-type level (PubMed:23766119). Mutant forms flat and thick biofilms (PubMed:23766119). Inactivation results in greater phosphorylation of TpbB (PubMed:20946878)
Causes severe growth and translation defects, which is due to reduced decoding of Phe codons by hypomodified tRNA(Phe)
No visible phenotype at birth (PubMed:19686689). Combined disruption of Wnt2 and Wnt2b leads to lung agenesis (PubMed:19686689)
Mice lacking Pmis2 are viable but display male infertility despite a normal mating behavior. The ability of spermatozoa to migrate through the uterotubal junction is impaired. Their binding to the zona pelucida of eggs is also altered
Increases cellular trehalose-6-phosphate level during thermal stress
Cells lacking this gene have no 2'-O-methylation activity at nucleotide C1920 in 23S rRNA (PubMed:29404277). Impeded motility (PubMed:24796671, PubMed:29404277, PubMed:32134554). Impaired biofilm formation (PubMed:29404277, PubMed:32134554). Cells form clumps which lack the structural roughness seen in the wild-type. The cells are less bulky, but otherwise they have no obvious alteration in dimensions, shape or flagellar structure (PubMed:29404277). Accumulation of 50S ribosomal subunits and reduced amount of functional 70S ribosomes (PubMed:24796671). Reduced adherence to the surface of Caco-2 human intestinal epithelial cells and impaired capacity to invade them (PubMed:18389311, PubMed:23971210, PubMed:32134554). Reduced interleukin 8 (IL-8) chemokine secretion by the Caco-2 cells. Impaired adhesion and invasion to RAW264.7 murine macrophage cells, but no effect on survival within the macrophages as both the wild-type and mutant cells are killed within 48 hours (PubMed:32134554). Resistant to capreomycin indicated by increased minimal inhibitory concentration (MIC) value (PubMed:24796671, PubMed:32134554). No difference in hemolytic activity between the mutant and the wild-type (PubMed:18389311)
Mutants display highly specific cardiac arrhythmia and die by 15 days post-fertilization (dpf) (PubMed:33597309). Exhibit skipped ventricular beats, irregular beats and slower heart rate but their hearts are morphologically indistinguishable from wild-type counterparts (PubMed:33597309). Increased potassium and calcium currents observed in isolated cardiomyocytes (PubMed:33597309)
Loss of repression of the modABC operon (PubMed:8564363, PubMed:8931336). Not essential for molybdopterin cofactor synthesis (PubMed:8931336). Increased dmsA expression under aerobic conditions and reduced expression under anaerobic conditions (PubMed:9466267). Decreased expression of hyc and narG (PubMed:10206709)
Deletion mutants display increased resistance to oxidative stress, increased catalase activity and increased survival in macrophage cells. Deletion results in the altered expression of 82 and 56 genes in log and stationary phase, respectively
In BALB/c mice infected with knockout tachyzoites (type I strain RH), virulence is not affected
No visible phenotype under normal growth condition, but hypersensitivity to elevated levels of zinc
No glycosylation of serine-rich fimbrial adhesin Fap1. The unglycosylated version of Fap1 accumulates which is larger than the wild-type protein. In a deletion mutant, GtfA (Gtf1) is less stable in vivo, no longer associates with the cell membrane and has an increased protease susceptibility. Biofilm formation decreases. In a double gftA/gtfB (gtf1/gtf2) mutant, there is no further affect on glycosylation but biofilm formation is further decreased
RNAi-mediated knockdown causes embryonic lethality (PubMed:16647269, PubMed:18728180). In embryos, DNA replication is partially impaired causing a delay in S phase progression in P0, AB and P1 cells; simultaneous RNAi-mediated knockdown of DNA replication checkpoint kinases chk-1 or atl-1 suppresses the delay in S phase (PubMed:18728180). Prevents DNA replication licensing factor cdt-1 down-regulation and causes cdt-1 accumulation on mitotic chromosomes (PubMed:21981920). Impairs dissociation from the chromatin of components of the DNA replication machinery, including cdc-45 and GINS complex component sld-5, resulting in their persistent association with chromatin throughout embryonic mitosis (PubMed:21981920, PubMed:26842564, PubMed:18728180). Abnormal ubxn-3 localization into punctate structures in the nucleus (PubMed:26842564). Reduces npl-4 expression in embryos (PubMed:21981920, PubMed:26842564). RNAi-mediated knockdown in adults causes defects in germline development, induces the unfolded protein response, and causes the accumulation of misfolded protein cpl-1 in the ER (PubMed:16647269, PubMed:20977550, PubMed:22768338)
Reduced fertility and mitotic defects: 72 per cent reduction in homologous somatic recombination
Swimming defect. No differences in growth rate or cell size
Leads to lower ferrichrome (FC) and ferrioxamine B (FOB) uptake activities, which are reduced to approximately 60% and 50% of the wild-type activities, respectively (PubMed:26929401)
Deletion mutant does not grow on cholesterol or HIP, but grows as the wild-type on pyruvate. In the presence of cholesterol, disruption mutant accumulates 5OH-HIC-CoA
Fails to produce fumihopaside A, but leads to the accumulation of 21-beta-H-hopane-3-beta,22-diol
Archaeosine is no more detected among the modified nucleosides in tRNA fractions, but a nucleoside corresponding to q0kN can be observed
Mutant lacking this gene accumulates substantial amounts of diglyceride in the cytoplasmic membrane (PubMed:206553, PubMed:217867). Mutant also accumulates monoglyceride and triglyceride. Monoglyceride accumulates predominantly in the outer membrane, while triglyceride builds up together with diglyceride in the cytoplasmic membrane (PubMed:6305970)
Flies have a reduced lifespan and exhibit multiple behavioral defects: flight and locomotion are severely affected and they spend more time grooming (PubMed:27919077, PubMed:28675155). They also display a mild held-out wing appearance resulting from failure to fold their wings together over the dorsal surface of the thorax and abdomen (PubMed:27919077, PubMed:28675155)
RNAi-mediated knockdown does not affect epithelial integrity or apoptosis
Parasites grow normally under standard conditions but fail to differentiate into chronic-stage bradyzoites under all induction conditions tested (PubMed:31955846). Parasites are unable to form brain cysts in mice (PubMed:31955846)
RNAi-mediated knockdown results in extended lifespan with increased fecundity and suppression of age-related decreased climbing activity and intestinal integrity (PubMed:27313316). Does not affect oxidative stress resistance (PubMed:27313316). Decreases levels of S-adenosyl-homocysteine and homocysteine (PubMed:27313316). Suppresses histone H3K4 trimethylation (PubMed:27313316). RNAi-mediated knockdown in neurons results in extended life span (PubMed:27313316). RNAi-mediated knockdown in the fat body does not show any phenotype (PubMed:27313316). Simultaneous knockdown of AhcyL2 in intestine results in extended life span (PubMed:27313316)
Leads to vacuolar defects as well as defects in the terminal steps of autophagy, when ATG42 is also deleted (PubMed:29514932). The PCR1/ATG42 double deletion abrogates also the production of phytochelatin and the degradation of glutathione-S-conjugates (PubMed:17408619, PubMed:19897216)
RNAi plants show severe growth retardation, the formation of spontaneous disease-like nectrotic lesions leading to premature cell death. The defective plants also display a strong reduction in protein synthesis, and chromatin bridge formation at anaphase
Grinder formation defects, whereby the grinder is formed, but it is small (PubMed:23792950). Animals have a fragile cuticle phenotype, which is prone to rupturing at random positions along the body (PubMed:30665892). This phenotype is intensified in response to hypotonic shock (PubMed:30665892). Due to a compromised cuticle barrier, which increases permeability to exogenous chemicals, all animals become paralyzed in response to acetylcholine agonist tetramisole or the GABA agonist piperazine (PubMed:30665892). Resistant to infection by the bacterium M. nematophilum and does not exhibit a deformity at the anal region phenotype (also known as a dar phenotype), which is possibly indicative of cuticle glycosylation defects (PubMed:30665892). Reduces spontaneous reversal rate and mechanosensitivity (PubMed:22213799). Disrupts the localization of glr-1, and there is a decreased number of glr-1-positive puncta along the ventral cord dendrites (PubMed:22213799, PubMed:26891225). The reduced number of glr-1-positive puncta along the ventral cord dendrites phenotype is suppressed in an unc-11 e47 mutant background (PubMed:22213799). The number of glr-1-positive puncta is further reduced in a rab-6.1 RNAi-mediated knockdown in glr-1 expressing neurons (PubMed:26891225). RNAi-mediated knockdown results in delayed growth and grinder formation defects (PubMed:23792950). RNAi-mediated knockdown disrupts seam cell division and alae formation (PubMed:33826611). RNAi-mediated knockdown suppresses the seam cell division and alae formation defects in the tbc-11 ok2576 mutant (PubMed:33826611)
Decrease in chlorophyll b during dark incubation substantially suppressed
Likely lethal, leading to seeds abortion
Incorporation of the inositol pathway-derived monosaccharides is strongly reduced in knockout AtMIOX1 seedling walls
No visible phenotype under normal growth conditions, but mutant plants exhibit hypersensitivity to heat stress
Mice develop normally, but show elevated frequencies of spontaneous and radiation-induced micronuclei, due to an increased frequency of chromosomal breakage (PubMed:12663541, PubMed:15542845, PubMed:19630521). Mice display a 20% reduction of both A/T and C/G mutations during somatic hypermutation of immunoglobulin genes (PubMed:17449470). Mice lacking both Polh and Polq do not show a further decrease of A/T mutations as compared with mice lacking only Polh (PubMed:17449470). Mice lacking both Fancd2 and Polq die during embryogenesis (PubMed:25642960)
Mice lackin both SYNGR1 and SYP show normal brain structure and composition, but impaired short-term and long-term synaptic plasticity
Knockdown of this gene in cells with simultaneous deletion of PPE25/PE18/PPE26/PPE27/PE19 genes result in a severely impaired growth in phosphate-limiting media
Cells lacking this gene are unable to uridylylate PII and are altered in adenylation/deadenylation of glutamine synthetase
Mutant shows significant reduced growth on TMAO as a sole nitrogen source (PubMed:24550299). Growth on trimethylamine (TMA), glycine betaine (GBT), choline and carnitine is unaffected (PubMed:24550299)
Mostly embryonic lethality with low frequencies of dwarf infertile plants
Deletion of the gene prevents PAT synthesis
Mice embryos exhibit defects in single heart tube formation, due to a delay in mesodermal migration. However, the cells eventually acquired migratory activity and gave rise to an abnormal heart tube. Mice lacking Mesp1 and Mesp2 die around 9.5 dpc. The major defect is the apparent lack of any mesodermal layer between endoderm and ectoderm and a defect in the migratory activity of mesodermal cells. It seems that a compensatory mechanism exists in which Mesp1 expression is up-regulated in the absence of Mesp2. Mesp1 may be involved in the rescue of somitogenesis in the null Mesp2 embryos
Mice show a dramatic reduction in the level of peripheral T-cells, with 5-10% of wild-type levels. T-cells also exhibit a 10-fold decrease in proliferative response
No detectable effects on ribosome biogenesis and translation in normal conditions (PubMed:21923745). Better seedling growth under salt stress conditions (PubMed:24220572)
Deletion mutant has a severe growth defect, forms tan colonies and fails to develop (PubMed:22404381). Mutant shows increased accumulation of PopC in the supernatant (PubMed:22404381)
Reduced growth rate, reduced 70S ribosomes, accumulation of 17S rRNA (the precursor of 16S rRNA) (PubMed:15466596, PubMed:21303937, PubMed:25904134, PubMed:27382067). Ribosomal proteins uS2 and bS21 not found in 30S subunits, decreased uS3 and RbfA in 30S subunits, distortion of rRNA helix 44 near the decoding center (PubMed:21303937, PubMed:27382067). The phenotype is partially suppressed by overexpression of a number of genes involved in ribosome function, including infB, era and ksgA (PubMed:15466596). Double rbfA-rsgA deletion mutants have the same phenotype as single mutants (PubMed:21102555). Single rgsA deletion is suppressed by a number of mutants in RbfA but not by wild-type RbfA; in all the RbfA mutants less RbfA is found bound to the 30S ribosome (PubMed:21102555)
Deletion of the yokI-yokJ operon has no visible growth phenotype, however it is out-competed by wild-type cells
Reduced total acylsugar levels, with abnormal accumulation of di-acylsucrose, S2:17 (5,12), and two triacylsucroses, S3:19 (2,5,12) and S3:22 (5,5,12) lacking furanose ring acylation, but impaired accumulation of S3:15 (5,5,5), S4:17 (2,5,5,5) and S4:24 (2,5,5,12) acylsucroses
No visible phenotype, but reduced sensitivity to indole-3-butyric acid (IBA) and inefficient peroxisomal import of PTS2-containing proteins
Deletion of lysEG decreases the extracellular accumulation of L-lysine, L-arginine and L-citrulline
Mutant animals exhibit severe defects in cranial neuronal tube closure and die around 11.5 dpc, but neurogenesis abnormalities are limited. Mice lacking both Numb and Numbl genes die around 9.5 dpc, with severe defects in somite and vasculature formation, neuronal tube closure and axial turning. Conditional mutants, with expression abrogated in neural progenitor cells from 8.5 dpc are viable, fertile and exhibit no obvious phenotypes. Conditional double-knockout (cdKO) mutants (Numb and Numbl genes), with expression abrogated in neural progenitor cells from 8.5 dpc (just before the onset of neurogenesis), display a loss of neuronal progenitor cells formation and an overexpression of neurons as neurogenesis progresses; cdKO mutants become necrotic at 12.5 dpc and die around this stage. Conditional double-knockout (cdKO) mutants (Numb and Numbl genes), with expression abrogated in neural progenitor cells from 10.5 dpc (just after the onset of neurogenesis), display a premature depletion of neural progenitor cells in the dorsal forebrain ventrical zone of the neocortex and in the hippocampal CA fields as neurogenesis progresses; cdKO mutants are viable and fertile, but showed a reduction in the thickness of the neocortex and the hippocampus and a enlargement of the lateral ventricles. Tamoxifen-inducible double-knockout (cdKO) mutants (Numb and Numbl genes), with expression abrogated postnatally in the subventricular zone (SVZ) neuroprogenitors and in ependymal cells, display a loss of SVZ neuroblasts and show a disorganized ependyma lacking both interdigitation junction between neighboring cells and increasing number of separated cells
Pleiotropic developmental defects, including early flowering and hypersensitivity to abscisic acid (ABA). Enhanced accumulation of many mRNAs, including heat shock mRNAs, with altered alternative splicing pattern
Deletion of the aotJQMOP genes greatly reduces arginine and ornithine uptake (PubMed:9791103). Disruption mutant has a reduced capacity to use arginine and ornithine as sole carbon source for growth (PubMed:18833300)
Abolishes the production of 15-deoxyoxalicine B and accumulates predecaturin E
Plants exhibit a lethal chlorotic phenotype
Variegated leaves, reduced growth and altered structure of chloroplasts. Altered responses to sugars, abscisic acid (ABA), salt and osmotic stresses during seedling establishment (PubMed:25393651). Altered root and shoot meristem function resulting in reduced organ growth (PubMed:21599977)
Disturbed petal development during their growth through the narrow space between sepals and anthers, leading to stuck petals in the bud during elongation, and resulting in the formation of folded petals in the open flower (PubMed:27135508, PubMed:23314942). Flattened conical-shaped petal epidermal cells associated with abnormal contacts of petals with the sepal surface (PubMed:23314942)
No visible phenotype. No effect on the subcellular localization or expression of Rab7, Rab11 and Avl
Moderate reduction in cell number (PubMed:19392710). Slightly pointed leaves and prominent marginal serrations (PubMed:18305008). Delayed leaf growth and abnormal leaf patterning, with the abaxial mesophyll features appearing in the adaxial mesophyll domain (PubMed:18305007). More proximal vein branching in the petiole and reduced number of small veins at later leaf developmental stages (PubMed:18305007). Abnormal inflorescences terminating early and producing several secondary inflorescences (PubMed:18305007). Double mutant ae6-1 as2-101 exhibits an increased number of lotus- and needle-like leaves, rough adaxial surface of expanded leaves (PubMed:18305007). Double mutants oli2 oli5 have further reduced cell number but exhibit also excessive postmitotic cell enlargement in leaves (compensation phenotype) (PubMed:19392710). Plant missing both OLI5 and GIF1/AN3 have a strong compensation phenotype (PubMed:19392710). The double mutant as1 pgy3 exhibits narrow and elongated leaves with adaxial ectopic lamina (PubMed:18305008). The double mutant ae6 as1/2 produces severe abaxialized leaves (PubMed:18305007)
Deletion of the gene strongly inhibits Fe uptake via enterobactin
Development of larvae with small brains and aberrant photoreceptor axon targeting
No visible phenotype under normal growht conditions
Mice hearts have reduced nebulette (NEB) and elevated actin levels, with intact myofibers showing disordered NEB organization
Mice exhibit metabolic defects including a resistance to diet-induced obesity, decreased fat storage, changes in lipid-related gene expression profiles in the liver, and altered glucose and insulin sensitivities. Exhibit a delayed early embryo development and at 12 weeks of age show enhanced skeletal mass and increased osteoblastogenesis
Cells lacking this gene produce a normal lipid A structure with GalA at the 4'-position but a modified LPS core structure as this gene deletion results in addition of GalA to the 4- but not the 5-position of the outer Kdo and nearly complete addition of GalA to the Man residue. The mutant cells are also more susceptible to deoxycholic acid when compared with the parent strain, and more resistant to the polycationic antimicrobial peptide PmxB
Mice display no obvious defects in development, hematopoiesis or T-cell function. Deletion of Axud1, Csrnp2 and Csrnp3 together causes partial neonatal lethality, suggesting that they have redundant functions
Lethality 10 days post-fertilization (dpf) due to severe hematopoietic defects (PubMed:28869969). Levels of N6-methyladenosine (m6A)-containing mRNAs are significantly decreased and emergence of hematopoietic stem cells is blocked (PubMed:28869969)
Mutant is defective in proline transport (PubMed:3007935). Shows reduced growth rate when grown on propionate as sole carbon source (PubMed:17088549)
Temperature-sensitive mutants in which embryos develop to adulthood at 15 and 20 degrees Celsius, but have a poor survival incidence at 25 degrees Celsius. Mutants have increased membrane fluidity and abnormal compositions of fatty acid species
Disruption of the gene results in dramatic attenuation of the growth of the bacteria within J774A.1 cells, a mouse macrophage-like cell line (PubMed:16041044). Disruption does not affect the development of acute anthrax disease in the A/J mouse model (PubMed:15968076)
Viable. Adults exhibit reduced night-time sleep but daytime sleep appears normal. RNAi-mediated knockdown in the whole organism or simultaneously knockdown in the C01 and A05 neurons, results in a similar phenotype to the genetic knockout. As demonstrated in adults undergoing RNAi-mediated knockdown in the C01 and A05 neurons, the reduction in night-time sleep and increase in night-time arousal is likely the result of enhanced neurotransmitter release in the mushroom body alpha-beta lobes, and the antennal mechanosensory and motor center, which occurs only during the dark period of different light-dark conditions. RNAi-mediated knockdown in a tim mutant background, also results in sleep loss during the dark period of different light-dark conditions but under constant light conditions sleep loss is completely suppressed. RNAi-mediated knockdown in a cry mutant background, results in a small but significant reduction in sleep under LL conditions
In deficient mice 35% of skin mechanoreceptors do not respond to mechanical stimuli. In addition, mechanosensitive ion channels find in many sensory neurons do not function. Tactile-driven behaviors are also impaired in mutant mice, including touch-evoked pain caused by neuropathic injury
Simultaneous knockout of ADE16 leads to adenine and histidine auxotrophy
In deletion mutant mice, the elevation of serum TNF-alpha, IL6 and EDN1 and the tissue damage induced by LPS is significantly attenuated when compared with WT mice (PubMed:21270403). The lower hepatic expression of pro-inflammatory cytokines, while the activation of immune cells remains unaffected, results in improved survival after challenge with D-galactosamine (PubMed:32670276)
Plants show a reduction in leaf size, but no apparent defect in pollen development or fertility
Embryonic lethal due to defects in the development of the definite gut endoderm, aberrant heart looping and severe defects in vascular development and remodeling, including a lack of artery formation. Embryos die at about 10.5 dpc (PubMed:11973269, PubMed:17655922, PubMed:24153254). Besides, mutant embryos display a severe defect in fetal hematopoiesis (PubMed:17655922)
Cells lacking this gene cannot grow under gluconeogenic conditions while glycolytic growth is unimpaired, and the gene disruption results in the complete abolishment of intracellular FBPase activity
No visible phenotype. Double knockout with cnnm-3 results in 22% sterility. Quintuple knockout with cnnm-1, cnnm-3, cnnm-4 and cnnm-5 results in a reduced lifespan and 100% sterility
Reduces the production of penicillin (PubMed:20541108)
Loss of function results in a suppression of sel-12 mutant phenotypes, possibly by up-regulating hop-1 expression
Disruption abolishes EsxA and EsxB secretion, but not their expression (PubMed:14557547, PubMed:14557536). It results in a lack of antigen specific immunogenicity and leads to attenuated virulence (PubMed:16368961). Mutants exhibit defects in bacterial growth during the acute phase of a mouse infection (PubMed:14557536). No growth in the human macrophage-like cell line THP-1, no cytotoxicity (PubMed:14756778)
No overt morphological phenotype but apoptosis and cell cycle arrest induced by ionizing radiation are abolished
No visible phenotype under normal growth conditions, but mutant plants accumulate high amounts of 12COOH-JA-Ile in response to wounding
Impaired growth, flower and silique development, and production of shrunk and sterile seeds
Impairs the production of tropolones but leads to the accumulation of the intermediate 3-methylorcinaldehyde (PubMed:22508998)
Mice have no obvious defects (PubMed:27836991). Size of adipocytes is normal (PubMed:27836991). Lipid metabolism is normal (PubMed:27836991). Cholesterol ester turnover or hydrolysis in bone marrow macrophages, brown adipose tissue or liver is normal (PubMed:27836991). No defect in body composition, energy expenditure, locomotor activity, water or food intake, respiratory exchange ratio, oxygen consumption, carbon dioxide production or glucose homeostasis (PubMed:27836991)
Abolishes formation of the tetrasaccharide present at 'Asn-532' of S-layer glycoprotein Csg. No effect on 'Asn-47' and 'Asn-117' glycosylation of S-layer glycoprotein Csg
Embryos have a reduced forebrain, kinked tail and inflated hindbrain ventricle
No visible phenotype under normal growth conditions, but plants lacking LPXA accumulate very low levels of 2,3-diacylglucosamine-1-phosphate
Not required for growth in a mouse tuberculosis model (PubMed:14569030). Required for growth on cholesterol (PubMed:21980284)
Accelerated leaf aging
Perinatal lethality (PubMed:15899865). Embryos develop normally up to embryonic day 13.5 dpc and then show progressive mortality (PubMed:15899865). Embryos display severe growth retardation caused by hypoplasia in multiple organs (PubMed:15899865). Fibroblasts show a normal rate of protein synthesis and minimal alterations in the transcriptome and proteome (PubMed:15899865). Mice show defects in the architecture of the skin characterized by markedly reduced thickness of the epidermis and delayed onset of the placodes to hair follicle transition (PubMed:29712925)
Reduced attractant response to some odorants
Homozygous knockout mice lacking Elovl6 are partially viable and surviving animals are fertile. Mutant mice appear grossly normal and slightly but significantly leaner than wild-type littermates. Hepatic concentrations of stearate (C18:0) and oleate (C18:1n-9) are lowered, whereas those of palmitate (C16:0) and palmitoleate (C16:1n7) are increased. Elovl6 deletion abrogates the development of diet-induced insulin resistance
Young mice initially display no obvious phenotype, but fail to gain weight normally. Mutant mice display pale kidneys with abnormal proliferation of proximal tubule cells, proximal tubule hyperplasia and develop kidney interstitium fibrosis. After 6 months, mutant mice display a decreased glomerular filtration rate, increased plasma creatinine levels and proteinuria. Glomerular lysosomes do not show a generalized defect in protein catabolism. Instead they show defects in the degradation of a set of target proteins, including EGFR
Knockout reduces the conversion of phosphoanandamide (p-AEA) to AEA in the brain
Disruption of this gene results in a strain unable to grow on protocatechuate and a variety of aromatic substrates funnelled through this compound (m- and p-hydroxybenzoate, p-sulfobenzoate, phthalate, isophthalate, terephthalate, vanillate, isovanillate and veratrate). Growth on benzoate and o-aminobenzoate (anthranilate) is not affected in the mutant strain, indicating that these substrates are metabolized via a different lower pathway
Mice display spermatogenic arrest at the beginning of the round spermatid stage, resembling the phenotype of CREM, a master regulator of spermiogenesis; mRNAs of FHL5/activator of CREM and CREM target genes are down-regulated in testes. Female are fertile but male are completely sterile, no sperm is found in the epididimus. Chromatoid bodies from round spermatids are not fully compacted and remain as a diffuse chromatoid material
Deletion mutant shows a significant decrease in the attachment to an abiotic surface and in the ability to bind collagen, hyaluronic acid and fetuin. Deletion leads to decreased adhesion to host cells, but it does not affect later stages of cellular infection. Splenic infection is significantly reduced in mice
Aboshes light-dependent conidiation, allowing conidiation to occur in the dark (PubMed:2076818). Impairs formation of sexual structures, even under conditions where sexual development preferentially occurs (PubMed:12223191). Alters the expression of the transcription factors nsdD, steA and brlA, the penicillin biosynthetic genes ipnA and acvA, as well as of the sterigmatocystin-specific regulatory gene aflR (PubMed:14665453)
Viable heterozygous plants seeds are slow to emerge from the seed coat; emerged embryos remains white with unexpanded cotyledons thus leading to growth-arrested seedlings
Retarded pollen tube growth, but no effect on pollen germination, root hair growth, organization or amount of filamentous actin in pollen grains or tubes. Increased sensitivity to latrunculin B (LatB) and instability of actin filaments in pollen tubes. Decreased severing frequency of actin filaments. Vln2 and vln5 double mutants have pollen tubes curled and wider at some regions along the tube. They accumulate actin filaments at the tips of pollen tubes (PubMed:23715472)
Mutant cannot grow on TMA as a sole source of carbon and energy
Stationary-phase cells lacking this gene are more sensitive to ionizing radiation (IR) than cells lacking Ku (YkoV); a double mutant is not more sensitive than the ku knockout. Spores lacking this gene are more sensitive to UV, IR, ultrahigh vacuum, and dry heat
No visible phenotype (PubMed:23658066). Alterations in germination and in early seedling growth. Enhanced sensibility to abscisic acid (ABA) with elevated levels of Ins(1,4,5)P3 (PubMed:17237190)
Inviable vegetative cell population
Late flowering and absence of siRNAs derived from FWA tandem repeat regions. Loss of de novo methylation. Increased expression of retrotransposon-derived solo long terminal repeat (solo LTR) and SDC due to their derepression; levels are even higher in the double mutant rdr2-1 jmj24-1 (PubMed:26119694)
Essential, it cannot be deleted (PubMed:8244929, PubMed:8636036). Depletion leads to an arrest of cell division after 80 minutes at 37 degrees Celsius and 40 minutes at 48 degrees Celsius with a concomitant reduction in FtsL and to a lesser extent DivIC levels; cells lengthen after arrest and eventually lyse (PubMed:16936019, PubMed:28792086)
Increased tolerance to salinity stress
Worms display defects in folate uptake, reproduction and movement
Essential in some but not all strains; in 168 / BR151 the null mutation grows slowly and forms irregularly shaped colonies after several days. In liquid culture forms chains of elongated cells with diffuse nucleoids that occupy most of the cell. Sporulation in this disruption strain is severely impaired. Essential in strains CRK6000 and IS75, where it cannot be disrupted. In CRK600 in depletion experiments cells become 1.5 to 2-fold longer and nucleoid distribution is dispersed. The number of replication origins increases, suggesting an increase in chromosome replication
Leads to intracellular accumulation of clotrimazole and increases the susceptibility to clotrimazole but also to other imidazoles such as miconazole, ketoconazole, and tioconazole; as well as triazoles such as itraconazole and fluconazole (PubMed:26512119). Increases also susceptibility to other antifungal drug families such as the polyene amphotericin B, the pyrimide analog flucytosine, the fungicide mancozeb, and the polyamine spermine (PubMed:26512119). Decreases virulence in a Galleria mellonella model of infection (PubMed:27780306)
Decreased 5-glyceryl-methylcytosines (5gmC) DNA modification in the genome (PubMed:31043749). Reduced fitness of cells during exposure to high light levels (PubMed:31043749). Defects may be caused by hypermethylation and down-regulation of LHCSR3, a protein-coding gene required for the protection of C.reinhardtii cells from photo-oxidative damage under high light conditions, causing a reduced capacity for photoprotective non-photochemical quenching (PubMed:31043749)
No accumulation of anthocyanins, accumulation of protoanthocyanidin intermediates and presence of numerous small vacuoles in leaf epidermal cells
Decreased growth rate, loss of homologous recombination, increased sensitivity to DNA damaging agents such as UV light and ethylmethane sulfonate (EMS). Loss of maintenance and/or replication of pHH1 and pHV2 (but not pHK2) replicon-containing plasmids
Slightly lower NDH activity in immature leaves. No chlorophyll fluorescence increase in mature leaves. Smaller version of the NAD(P)H dehydrogenase-photosystem I supercomplex (NDH-PSI) supercomplex (PubMed:19903870). In the double mutant lhca5 lhca6, drastic reduction of NDH subunits accumulation upon increased light intensity (PubMed:21278308)
Impaired exercise-induced SLC2A4/GLUT4 translocation to the cell membrane, impaired exercise-induced glucose uptake in skeletal muscle cells and impaired ability to reduce blood glucose levels on contraction/exercise
RNAi double mutants MKK4 and MKK5 have a strong abscission defect. RNAi mutant MKK5 shows super-sensitivity to high light stress. Insensitivity to abscisic acid (ABA) in terms of root growth inhibition (e.g. root cell division and elongation) and stomatal response leading to increased water loss under dehydrated conditions (PubMed:27913741). Impaired ABA-mediated increased activity of MPK6 (PubMed:27913741)
Enlarged stigmas and styles due to increased in cell numbers
RNAi-mediated knockdown in L3 larvae impairs the separation between the L3 cuticle and the newly synthesized L4 cuticle resulting in incomplete molting
No visible phenotype, but reduced induction of ER stress-responsive genes. Shows enhanced susceptibility to a bacterial pathogen
High fructose levels in leaves, especially in vacuoles, due to impaired vacuolar fructose export (PubMed:23583552). Increased root sensitivity to high levels of fructose (PubMed:24381066)
Mutant mice are born at the expected Mendelian rate, are viable and display normal sarcoplasmic calcium release and normal heart function under basal conditions, but have a slower heart rate. Mutant mice are subject to polymorphic arrhythmia after exercise and to catecholaminergic ventricular arrhythmia, and their myocytes show increased Ca(2+) release in response to isoproterenol. Besides, the volume of the junctional sarcoplasmic reticulum is increased, and it seems to lack visible content
No obvious phenotype. Mutant mice are viable and fertile
Delayed flowering in short days but not in long days conditions, associated with high expression of MAF5, a floral repressor, due to a reduced H3K9me2 status of MAF5 locus
Normal morphology, fertility, growth rate and lifespan but higher than normal food consumption and fatty acid oxidation rate and decreased fat content in adipose tissue and liver (PubMed:11283375). A high-fat/high-carbohydrate diet results in maintenance of normal insulin and glucose levels with less weight gain and less fat accumulation than wild-type mice (PubMed:12920182). Elevated levels of Ucp2 in adipose tissue and heart but not in skeletal muscle or liver, and elevated levels of Ucp3 in skeletal muscle but not in heart or brown adipose tissue (PubMed:12920182). Significant decrease in body weight, weight of epidydimal fat pads and levels of hepatic triglycerides under a range of dietary conditions including normal chow diet, fasting and refeeding a fat-free high-carbohydrate diet, and a high-fat/high-carbohydrate diet (PubMed:22362781). Up-regulation of lipogenic enzymes under de novo lipogenic conditions but reduced fat accumulation in liver (PubMed:22362781). Primary cultured adipocytes show increased fatty acid and glucose oxidation rates and increased lipolysis (PubMed:15677334). Reduced heart size, reduced Mlycd and malonyl-CoA levels in mutant hearts, reduced myocardial triglyceride levels, higher myocardial oleate and glucose oxidation rates, reduced levels of Ppara and reduced activation of Mtor (PubMed:18487439, PubMed:22730442). However, it has also been reported that mutants show no differences in body weight, food intake, body composition or glucose homeostasis as compared with controls fed on chow or a high-fat diet (PubMed:20368432)
Abnormal epidermis cells walls with discontinuous cuticles, leading to irregular architecture and organ self-fusion resulting in distorted interlocking structures of the palea and lemma which accumulates abnormal levels of anthocyanin after heading. Delayed separation of the palea and lemma at later spikelet stages. Severe interruption of pistil pollination and damage to the development of embryo and endosperm, with defects in aleurone and reduced seed fertility (PubMed:22332708). Reduced stature due to shorter primary and lateral tillers (PubMed:22899082)
Enhances longevity, resistance to oxidative stress, and perturbs mitochondrial reticulum morphology
Does not prevent growth in 5 mM gallate medium, but the mutant strain grows poorly at gallate concentrations lower than 2 mM
RNAi-mediated knock-down is maternal effect embryonic lethal. Embryogenesis proceeds more slowly, with embryos displaying defects in the positioning and shape of epidermal cells
Defective in the apical uptake of lipid and protein trafficking. Reduced brood size thought to be due to attenuated nutrient supply
Mice do not exhibit any change in telomere length in thymocytes or plenocytes nor significant change in chromosome gain or rearrangements
No visible phenotype (PubMed:23832588). The double mutant yip4a yip4b exhibits disturbed trans-Golgi network (TGN)-Golgi association and cell elongation defects leading to reduced roots and hypocotyls growth associated with an abnormal cell wall composition and a mislocalization of trans-Golgi network (TGN)-localized proteins SYP61 and VHA-a1 (PubMed:23832588, PubMed:30770391). The double mutant yip4a yip4b has also a reduced number of root trichoblasts displaying Rho-of-plant (ROPs e.g. ARAC4/ROP2, ARAC5/ROP4 and ARAC3/ROP6) patches and leading to an almost complete absence of root hairs (PubMed:30770391)
Short primary roots and reduced size, with smaller cells (PubMed:21094157, PubMed:25122152). Disturbed levels of several metabolites (e.g. beta-alanine, threonic acid, phenylalanine, 1,3-diaminopropane dihydrochloride, citrate, glycine, aspartate, glucose, 1,4-diaminobutane, proline, palmitate and shikimate) (PubMed:22104211). Increased miR396 levels in plants lacking simultaneously GRF1, GRF2 and GRF3 (PubMed:22751317). Higher freezing tolerance, and greater levels of cold-inducible genes and ethylene- (ET-) inducible genes leading to higher ET levels, as well as slightly enhanced expression of ACS6 (PubMed:25122152)
RNAi-mediated knockdown results in sterility, embryonic lethality and sensitivity to radiation (PubMed:14711411, PubMed:25873636). RNAi-mediated knockdown causes a number of defects during the first embryonic mitotic division including loss of smo-1 from metaphase chromosomes, chromosome misalignment at metaphase, diminished spindle pole separation, slow chromosome segregation, decreased distance between chromosomes afer anaphase onset and increased air-2 levels in the spindle midzone (PubMed:25475837). RNAi-mediated knockdown results in ectopic tbx-2 expression in seam cells, the gut and in the syncytial hypodermis (PubMed:25873636). Exhibits abnormal localization and structure of intermediate filament protein ifb-1, such as altered filaments and aggregates, resulting in elongation defects of embryos
Enlarged petals and leaves
Female semisterility due to strongly delayed development of female gametophyte
Severe defect in oogenesis: females lay eggs, however, up to 50% do not initiate development and many show a dorsalized phenotype. Among the eggs that do initiate development, up to 20% fail to complete embryogenesis and of these, nearly all display severe head defects and die as unhatched larvae or die soon after hatching. Mutants show anterior pattern defects and fail to repress the translation of caudal mRNA and exhibit head involution defects. Mutants also display a severe reduction in the level of 7SK RNA and reduced binding of bicoid/bcd to the caudal 3' UTR
The double mutant cepr1 cepr2 is insensitive to CEP1 in a root growth regulation and exhibit pleiotropic phenotype characterized by pale-green leaves and enhanced lateral root elongation. At adult stage, smaller rosette leaves and shorter floral stems, accompanied by anthocyanin accumulation. Down-regulation of genes involved in N uptake and assimilation pathways (e.g. NRT1.1, NRT2.1 and NRT3.1) leading to impaired nitrate uptake activity. Altered systemic induction of genes involved in N uptake and assimilation pathways in N-depletion conditions (PubMed:25324386). Increased resistance to osmotic stress (e.g. mannitol) (PubMed:21431781)
Mutants lack the ac(4)C modification, but do not show any growth defects
Embryonic lethality when homozygous due to embryo development arrest at globular stage
Conditional knockout in hematopoietic stem cells abrogates deposition of histone variant H2az1/H2A.Z to lymphoid fate regulator genes and causes reduced bone marrow cellularity and a decreased number of common lymphoid progenitors but an increased number of common myeloid progenitors compared with wild-type mice (PubMed:29138493). Conditional knockout in intestinal epithelium results in intestinal epithelium dysfunction after birth with dramatic body weight decrease leading to the death of 30% of mice after the first postnatal week while survivors show obvious growth retardation at P30 (PubMed:30842416). Intestinal villi and inter-villi structures are normal at 18.5 dpc but enlarged crypts and defective villi are observed during the postnatal crypt morphogenesis stage with depletion of Lgr5+ intestinal stem cells (PubMed:30842416). Conditional knockout in hematopoietic stem cells (HSCs) results in dramatic HSC expansion (PubMed:32694618). Conditional knockout in male germ cells blocks meiotic initiation, resulting in defective spermatogenesis and male infertility (PubMed:35413238). Conditional knockout in postnatal cardiomyocytes results in arrhythmia, idiopathic vacuolar cardiomyopathy, rapid heart failure and premature sudden death with massively elevated levels of Casq1 and reduced levels of Atp2a2/Serca2 (PubMed:35167494). Conditional knockout in embryonic cardiomyocytes results in reduced protein levels of Vps72/Yl1 and histone H2az1 with impairment of heart development by 13.5 dpc and heart failure by 18.5 dpc (PubMed:33913477). Mutants start to die from 17.5 dpc with half dying before birth and the remainder surviving after birth for less than half a day (PubMed:33913477). Mutants show myocardial mitochondrial swelling, severe damage to the cristae and impaired integrity of the respiratory complex (PubMed:33913477). Conditional knockout in the lens results in severe cataracts, microphthalmia, lens fibrosis, abnormal lens fiber cell differentiation with decreased cell proliferation and increased cell apoptosis of the lens epithelia, increased chromatin accessibility of the Cdkn1a/p21Cip1 and Cdkn1c/p57Kip2 promoters and increased Cdkn1a and Cdkn1c levels (PubMed:35472217)
Embryo-lethal phenotype. Embryo development arrested between globular and torpedo stages
Mutant with a disruption within tsgB13 or tsgD13 cannot use glucose for nitrate respirative growth. However, the mutant can grow aerobically using glucose as the sole energy source
Reduced growth, bushy plants with stunted leaves, abnormal vascular patterns and many stems (PubMed:17286797, PubMed:17369435, PubMed:21124873). Plants exhibit a pointed narrow shape of leaves, but no filamentous leaves. Plants with double mutations in this protein and in AS2 or AS1 protein show severe defects in leaf shape and filamentous leaves are efficiently formed, although a few normally shaped leaves and markedly narrow leaves are also generated (PubMed:27334696). Altered nucleolus ultrastructure (PubMed:17108323)
Mice expressing a null mutation of the alpha-V subunit gene survive until late in embryonic development and occasionally even to birth. They demonstrate cleft palate, and defective development of CNS and gastrointestinal blood vessels
Does not affect the production of abscisic acid (ABA) but leads to the accumulation of unidentified compounds (PubMed:31034868). Does not affect sporulation, pycnidiospore germination nor fungal growth rates in vitro, and does not alter the pathogenicity of L.maculans (PubMed:31034868)
Mice display no obvious defects in development, hematopoiesis or T-cell function. Deletion of Axud1, Csnrp2 and Csnrp3 together causes partial neonatal lethality, suggesting that they have redundant functions
RNAi-mediated knockdown of the protein in the type II neuroblasts lineage results in an increase in the number of type II neuroblasts. Simultaneous RNAi-mediated knockdown of the ETS protein pnt restores normal neuroblast numbers
Reduces the levels of assembled mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) and the rate of Complex I-driven oxygen consumption (PubMed:18396137, PubMed:25594180). Growth is retarded although activity and behavior are not affected during the first 4 weeks (PubMed:18396137). With aging, results in increasing lethargy, rapid deterioration of motor ability, weight loss followed by death (PubMed:18396137). Mitochondrial ultrastructure is normal, although large subsarcolemmal clusters of mitochondria are present in the soleus (PubMed:25594180). Exhibits glial lipid droplets accumulation in the olfactory bulb and vestibular nucleus prior to the onset of the physical signs of neurodegeneration (PubMed:25594180). Treatment with anti-oxidant treatment ameliorates the phenotype (PubMed:25594180). Conditional knockout in Vglut2-expressing glutamatergic neurons leads to decreased neuronal firing, brainstem inflammation, motor and respiratory deficits, and early death (PubMed:31403401). Conditional knockout in GABAergic neurons causes basal ganglia inflammation without motor or respiratory involvement, but accompanied by hypothermia and severe epileptic seizures preceding death (PubMed:31403401). Conditional knockout in cholinergic neurons has no effect on survival, body weight, or motor function (PubMed:31403401)
Increased survival rate and reduced body levels of iron in response to increasing Mn(2+) levels (PubMed:19924247). Reduced survival rate in response to high Mn(2+) levels or to infection mediated by pathogenic bacterium S.aureus (PubMed:19785996). Reduced CEP neuron death and higher Al(3+) accumulation in the body in response to high Al(3+) levels (PubMed:23106139). Reduced ferritin ftn-1 mRNA levels and Mn(2+) and iron body levels (PubMed:22194696). Increased sfm-1, sfm-2 and sfm-3 mRNA levels (PubMed:19924247)
Disruption of this gene sensitizes cells to the alkylating agent N-propyl-N'-nitro-N-nitrosoguanidine
Reduced levels of Nefm, Nefh and Prph in the sciatic nerve and reduced numbers of neurofilaments in sciatic axons
Mice are viable but females are infertile (PubMed:12539046). Ovarian development and oogenesis through the early stages of fertilization are normal, but most embryos from mutant females arrest at the one-cell stage (PubMed:12539046, PubMed:36264786). Abolished formation of MARDO phase-separated membraneless compartment and mitochondrial clustering in oocytes (PubMed:36264786). Mice lacking Zar1 and Zar1l oocytes display delayed meiotic resumption and polar body-1 emission and a higher incidence of abnormal meiotic spindle formation and chromosome aneuploidy (PubMed:31598710). The grown oocytes of Zar1 and Zar1l mutant mice contain decreased levels of many maternal mRNAs and display a reduced level of protein synthesis (PubMed:31598710)
In mutant males, loss of DDX3X leads to early post-implantation lethality. In mutant females with a maternally inherited Ddx3x null allele, paternal X chromosome inactivation affects trophoblast differentiation, which leads to aberrant placental layers and defective vascularization in placental labyrinth. These placental abnormalities impair maternal blood supply to the embryo and ultimately lead to fetal growth restriction and lethality. Heterozygous females with a paternally inherited null allele are born at the expected Mendelian ratio, develop normally and are indistinguishable from their littermate controls (PubMed:27179789). Epiblast-specific knockout embryos exhibit multiple anomalies, including defective neural tube closure, underdeveloped brain, poorly developed myocardial trabeculae, which ultimately lead to embryonic lethality around 11.5 dpc (PubMed:27179789). DDX3X and DDX3Y double knockout is embryonic lethal (PubMed:30613052). DDX3X and DDX3Y double knockout germ cells can differentiate into spermatozoa (PubMed:30613052). Bone-marrow macrophage-specific knockout leads to a reduction in the expression of several cytokines, including IL1B, IL6, IL12 and IFNB1, in response to Listeria monocytogenes infection and pathogen-associated molecular patterns (PAMPs), including poly (I:C), poly (dA:dT) and LPS. This effect is more prononced in females than in male macrophages, probably due to the functional redundancy with DDX3Y gene located on chromosome Y (PubMed:30475900)
The deletion mutant is impaired in PopC secretion and does not accumulate the intercellular C-signal protein (p17) (PubMed:30911012). Disruption of the gene results in a severe defect in the development of fruiting bodies (PubMed:8335633). The deletion mutant has a growth rate similar to the wild type and displays normal type IV pili-dependent motility and gliding motility (PubMed:30911012)
Mutants are unaffected in growth
No visible phenotype. Redundant with BEE2 and BEE3
Cells lacking this gene lose their ability to grow on biphenyl
Small and narrow leaves, arrest in flower development, degenerated pollen grains and reduced fertility leading to few viable seeds. Non-CpG hypermethylation at APC13, RDR2 and DCL3 loci (PubMed:24404182). Overproduction of stomatal lineage cells due to increased cell divisions and associated with DNA hypermethylation and silencing of ERECTA receptor genes such as ER, ERL1 and ERL2 (PubMed:27697902). Growth defects are partially complemented by the loss of JMJ24 mostly at vegetative stage, but the double mutant jmj24-3 ibm1-4 has synergistic effect on root growth (PubMed:28400174). Broad spectrum of up-regulated and down-regulated genes (PubMed:28400174)
RNAi-mediated knockdown results in reduced fertility and in high levels of embryonic lethality with none of the unhatched embryos reaching the comma stage of development (PubMed:10571178). Among the 40% of embryos that hatch, 98% reach adulthood, but have a reduced brood size, and the remaining 2% do not survive beyond the L1 larval stage (PubMed:10571178). Surviving adults have defects in vulval development, whereby 3-5% have a protruding vulva (Pvl) phenotype and 1% have a multivulva (Mvl) phenotype (PubMed:10571178). Occasionally, some adults have one missing gonadal arm, but many adults have defects in the organization of the proximal arm of the gonad, which are filled with smaller cells instead of full sized oocytes (PubMed:10571178). RNAi-mediated knockdown results in reduced plasma membrane localization and increased intracellular accumulation of let-23 in vulval precursor cells P6.p and their descendants (PubMed:32053105). RNAi-mediated knockdown does not affect the membrane localization of lin-12, lin-18 or pat-3 (PubMed:32053105). RNAi-mediated knockdown in vulval precursor cells results in the intracellular accumulation of let-23 in 31% of cases (PubMed:32053105)
Deletion mutants produce heat-resistant spores more quickly than wild-type cells, but are sensitive to lysozyme
A hyperlethal phenotype (reduced survival in the presence of antibiotic but no change in minimal inhibitory concentration) for a number of antimicrobials including nalidixic acid, tetracycline, ampicillin and mitomycin C as well as exposure to UV light and H(2)O(2). Lethality is mitigated by pretreatment with 2,2'-bipyridyl and thiourea, which inhibit hydroxyl radical accumulation. No change in cell survival upon heat shock (up to 55 degrees Celsius), rifampicin or fluoroquinolone PD161144 treatment. A triple srkA-mazE-mazF disruption mutant shows no hyperlethality in the presence of nalidixic acid or UV light, suggesting SrkA has a negative effect on MazF. Double katG-srkA and double cpxR-srkA disruption mutants are as sensitive to killing as single srkA mutants; i.e. all 3 genes are epistatic and function in the same genetic pathway
Transformation deficient (PubMed:16009133)
Larval developmental arrest due to ecdysteroid deficiency
Morpholino knockdown leads to a phenotype ranging in severity from weak to severe that includes an elongated hindbrain, altered midbrain-hindbrain boundary, stacked somites in severe phenotypes and a mortality rate of 97% at 5 days post-fertilization
RNAi-mediated knockdown gives rise to no visible phenotype in wild-type, but suppresses the effects of unc-52 mutations
Plants show a slight lateral root growth reduction
RNAi-mediated knockdown causes reduced basal secretion of Sog
Defects in shoot and primary root growth and aberrant parallel venation pattern in juvenile leaves
Mutant displays a reduced binding to laminin, vitronectin, and epithelial cells, and is more sensitive to killing by human serum compared with the wild type
Double mutants lacking SMO1-2 and ACBP1 are impaired in seed development, embryo sac development, male and female gamete transmission, and pollen function, as well as altered fatty acids (FAs) and sterols profiles (PubMed:29288621). The double mutant smo1-1 smo1-2, which accumulates dramatically 4,4-dimethylsterols, is embryo lethal, with embryo exhibiting severe defects, including no cotyledon or shoot apical meristem formation, abnormal division of suspensor cells, and twin embryos, and is associated with an altered auxin and cytokinin homeostasis (PubMed:31341004)
Viable and fertile. Larval locomotion is severely uncoordinated and the chemotactic response to sucrose is reduced. Morphology of the lch5 mechanosensory organ is abnormal, with disorganized cilia and neuronal cell bodies, although cilia still make contact with the cap cell
Defect in cytokinesis in embryos and defect in seedling growth
No visible phenotype under normal growth conditions, but mutant plants lack neoxanthin
No visible phenotype. Slight reduction of galactose content in the cell wall composition
Reduced accumulation of glucose and fructose during cold adaptation (PubMed:17158605). Plants lacking both MSSP1 and MSSP2 have reduced fresh weight when grown on high glucose containing medium or in response to cold stress, and exhibit increased glucose cytosolic concentrations leading to the stimulation of mitochondrial respiration (PubMed:17158605). In triple knockout plants missing MSSP1, MSSP2 and MSSP3, reduced accumulation of glucose and fructose during cold adaptation (PubMed:17158605)
Mushroom body lobe defects including ectopic axon bifurcations and/or axon guidance defects (PubMed:27908785). RNAi-mediated knockdown results in an increase in the number of mushroom body lobes as well as ectopic lobes and guidance defects (PubMed:28396149, PubMed:27908785)
Strong reduction of the starch level in leaves, but 50-fold increase of water-soluble polysaccharides. No alteration of the amylase-to-amylopectin ratio (PubMed:15743447, PubMed:15849301). Absence of starch granules in the hypocotyl endodermis associated with reduced hypocotyl negative gravitropism but normal phototropism, and presence of some starch granules in the root columella, leading to axillary branches with wider branch angles (PubMed:34367195)
Hatching is impaired in 5-6 percent of mutant embryos and about 2 percent of adults have uncoordinated movement (PubMed:18776901). In the anterior pharynx of L4 larvae, several cells including muscle and neuronal cells that normally survive during development are missing (PubMed:18776901). Slight increase in the number of cell corpses during embryonic development (PubMed:18776901). In a ced-5 n1812 or ced-6 n2095 mutant background, where cell corpse engulfment is defective, the number of cell corpses during embryonic development and in L1 larvae is further increased (PubMed:18776901). In a ced-3 n2427 or ced-3 n2427 and cps-3 n4872 mutant background, no extra pharyngeal cells caused by impaired apoptosis are produced (PubMed:23505386). In a csp-3 n4872, csp-1 n4967 and ced-3 n3692 mutant background, pharyngeal cells, that are normally fated to die, survive and 16 percent of animals have still 1 or more cell corpses that are morphologically apoptotic and are internalized by engulfing cells (PubMed:23505386). In addition, apoptosis of the male linker cell occurs normally (PubMed:23505386)
Abolishes D-arabinono-1,4-lactone oxidase activity and impairs the production of D-erythroascorbic acid (PubMed:11349062). Leads to increased sensitivity towards oxidative stress, defective hyphal growth and attenuated virulence (PubMed:11349062)
Knockout mutation impairs stomatal closure and accelerates wilting, enhances sensitivity to heat treatment, and strengthens tolerance to potyvirus TuMV infection
RNAi-mediated knockdown in female does not affect lifespan and basal melanization (PubMed:26926112). Simultaneous RNAi-mediated knockdown of SRPN2 and CLIPB8 in female, reduces the spontaneous melanization and the lifespan shortening occurring in SRPN2 RNAi-mediated knockdown (PubMed:26926112). RNAi-mediated knockdown severely reduces the melanization of injected Sephadex beads (PubMed:26926112)
Deficient mice have an increased cell turnover in the small intestine, which is accompanied by increased villus length and crypt depth and delayed enterocyte differentiation that is accompanied by increased PTK/AKT and WNT signaling
Decreased virulence in mice (PubMed:3679545). Bacteria do not bind IgG (PubMed:12700270). No visible phenotype during growth in liquid culture (PubMed:22447609)
No visible phenotype at birth. Mice are born at the expected Mendelian rate, are viable and fertile, and do not develop any neurological symptoms with increasing age. They show decreased spontaneous locomotor activity. Besides, urinary excretion of glutamate and aspartate are strongly increased, but glutamate and aspartate serum levels are normal
Cells lacking this gene produce fully N-acetylated glycan, become hypersensitive to exogenous lysozyme in the stationary phase of growth, and show reduced virulence in the intraperitoneal mouse model
Drastically reduces the production of andrastin A but does not affect its secretion
Viable (PubMed:9885245). At the restrictive temperature of 37 degrees Celsius, loss of asymmetric localization of cortical actin patches and, delay in emergence and bud growth resulting in the accumulation of unbudded cells (PubMed:9885245)
Cells lacking this gene are unable to synthesize pseudopaline and are impaired in their ability to import nickel in a minimal media, supplemented or not with nickel. Under more stringent conditions where a chelator such as EDTA is added to a minimal succinate (MS) medium, a condition that presumably mimics the chelating environment prevailing within a host or in airway mucus secretion (AMS), the deletion mutant strain is unable to import zinc, therefore reconciling the regulation of this operon by zinc with its function as a zinc importer operating in metal scarce conditions
Mice are viable perinatally but less than half survive postnatally due to skeletal abnormalities. They display severe dwarfism which is the consequence of a defect in endochondral ossification
Delayed leaf senescence and enhanced drought resistance (PubMed:22313226). Enhanced heat resistance (PubMed:25219309)
Deletion mutants are unable to secrete several extracellular degradative enzymes including the cytolysin/hemolysin tthat remains in the periplasmic space (PubMed:18604505). It results also in significant decreases in host cell cytotoxicity, adherence and virulence in a mouse mode (PubMed:9826339)
Substantially down-regulates penicillin biosynthesis genes pcbAB, pcbC, and penDE (PubMed:20543063). Up-regulates expression of laeA (PubMed:20543063). Leads to light-independent conidial formation, dichotomous branching of hyphae, and pellet formation in shaking cultures (PubMed:20543063). Decreases the expression of the class V chitinase chiB1 (PubMed:21816879). Decreases the expression of the transcription factor atfA (PubMed:25557366)
RNAi-mediated knockdown results in germline masculinization and the accumulation of unspliced mRNAs in the cytoplasm
Reduced procambial cells number, and adjacent or interspersed xylem and phloem formation
No visible growth defects, DNA is still methylated on A-5 of 5'-GACGAG-3'
No formation of (E)-beta-ocimene detected
In the gip1 gip2 double mutants, embryonic lethality and impaired development of male gametophytes, severe growth defects and sterility, characterized by microtubule (MT) misorganization and abnormal spindle polarity, resulting in ploidy defects
Impairs the production of 1-oxoindolizidine, (1S)-1-hydroxyindolizin, and (1R)-1-hydroxyindolizine and completely abolishes the production of swainsonine
Impairs the synthesis of austinol and dehydroaustinol and accumulates the intermediate compound protoaustinoid A (PubMed:22329759)
Dwarf, narrow leaf, small grain and low fertility phenotypes
No visible phenotype; due to the redundancy with SBH1. Sbh1 and sbh2 double mutants are severely dwarfed, do not progress from vegetative to reproductive growth and have enhanced expression of programmed cell death associated-genes
Cells are unable to transport molybdate unless high levels of it is supplied in the culture medium
DOCK3 knockout mice show sensorimotor impairment and structural changes in several brain regions, including the spinal cord and cerebellum. Structural changes are consistent with central axonal dystrophy and include a disorganized cytoskeletons, and abnormal accumulation of autophagic vacuoles associated with impaired axonal transport. Common features of mutant mice are gait abnormalities, limb weakness, ataxia, and an impaired ability to swim
Cells lacking this gene do not grow without tryptophan (auxotrophs) (PubMed:2105306, PubMed:23449919). About 10% decrease in pyocyanine production; double trpE-phnA disruption requires anthranilate or L-tryptophan for growth on minimal medium and does not make pyocyanine (PubMed:2153661)
Complete embryonic lethality at 9.5 to 10.5 dpc. Heterozygous mice have no obvious phenotype
Knockout mice display a retarded growth of sympathetic innervation and the superior cervical ganglion is significantly smaller. A heart rate decrease is also observed together with altered secretion of cardiac noradrenaline that might be due to reduced sympathetic nerve activity. Contrary to wild-type mice, oxygen consumption is not modified by feeding or starvation (PubMed:21518883). They also display impaired SCFA-triggered glucagon-like peptide 1/GLP-1 secretion and impaired glucose tolerance (PubMed:22190648). Finally, knockout mice display altered protective intestinal inflammatory and immune responses. Otherwise, they display normal growth and no major morphological abnormalities. Body weight, heart weight to body weight ratio, and metabolic parameters are comparable. However, there might be a gender bias, the effect on energy expenditure and body fat content being male specific (PubMed:23110765)
The leaves of the oswrky5 mutant plants retain leaf greenness during dark-induced senescence (PubMed:31505875). The mutant plants exhibit tolerance to mannitol-induced osmotic stress (PubMed:31505875). Enhanced tolerance to drought stress (PubMed:34718775)
Mutant atg10-1 cannot form the ATG12-ATG5 conjugate and fails to accumulate autophagic bodies inside the vacuole. Plants are hypersensitive to nitrogen and carbon starvation and initiate senescence and programmed cell death (PCD) more quickly. Reduced anthocyanin levels under anthocyanin-inductive conditions. Development of spreading necrosis upon infection with the necrotrophic fungal pathogen, A.brassicicola, which is accompanied by the production of reactive oxygen intermediates and by enhanced hyphal growth. By contrast, in response to the virulent biotrophic phytopathogen, P.syringae pv. tomato, plants exhibit a marked resistance without spreading necrosis. Enhanced powdery mildew (e.g. G.cichoracearum) resistance
Embryonic lethality between 17.5 dpc and birth (PubMed:30442762). Impaired ubiquitination of Ras (K-Ras/Kras, N-Ras/Nras and H-Ras/Hras) (PubMed:30442762). Heterozygous mice display heart malformations, including decreased left ventricular systolic function, increased diastolic dimensions, eccentric hypertrophy, increased cardiomyocyte area and reduced longevity; phenotypes that are reminiscent of human Noonan Syndrome (PubMed:30442762)
Mutant cannot grow at low sodium concentrations and exhibits an increased sensitivity towards potassium
Cells lacking this gene retain 38% of arabinofuranosidase activity, and the double mutant abfA/abf2 is inactive
Leads to high-affinity Ca(2+) influx system (HACS) deficiency (PubMed:21252230, PubMed:23204190). Causes a large increase of cell death in response to mating pheromone, when PRM6/KCH2 is also deleted (PubMed:23204190)
Triangular hull with tortuous lemma and palea (PubMed:22203474, PubMed:29057928). Defects in development of lemma and palea, which have a beak-like form (Ref.9, PubMed:25224972, PubMed:30725309). Beak-shaped grains of decreased width, thickness and weight with a loosely interlocked lemma and palea that are unable to close tightly (PubMed:23526395, PubMed:26486996, PubMed:29057928). Poor grain filling (PubMed:22203474, Ref.9, PubMed:23526395, PubMed:25224972, PubMed:26486996, PubMed:29057928, PubMed:30725309)
Reduced growth rate. Increase in xanthophyll cycle activity and energy-dependent non-photochemical quenching
Enhanced hypersensitive response, elevated pathogen resistance against both virulent and avirulent pathogens (e.g. isolates Emwa1 and Emco5 of the oomycete pathogen H.arabidopsidis, the bacterial pathogen P.syringae DC3000 (AvrRps4)). Elevated accumulation of salicylic acid (SA) and conjugates (e.g. salicylic acid glucoside (SAG)) upon infection. Stronger systemic acquired resistance (SAR). These increased defense responses are PAD4-, ICS1- and NPR1-dependent
Mice are viable, fertile and grossly normal, but develop mild, age-dependent inflammation and immune dysregulation
Embryos are smaller than wild-type embryos and neonates die during the first day after birth. Cells activate the ATM kinase at their telomeres in S phase and show leading-end telomere fusions which are accompanied by a reduction in the telomeric overhang signal
Embryonic lethality due to vascular remodeling defects (PubMed:26766444). Conditional knockout in endothelial cells results in impaired developmental and tumor vascular remodeling. Mice show endothelial cell apoptosis and vascular pruning, leading to reduced microvessel density (PubMed:26766444)
No visible phenotype under normal growth conditons
Failure to localize the diacetyl receptor odr-10
Mutant animals are born at the expected Mendelian ratio. They appear normal, fertile, with a normal life span. Tissue taurine levels are altered, with 50% decrease in the liver and 20% increase in the brain
No effect on the total glucosinolate levels in seeds. Gtr1 and gtr2 double mutant has no detectable glucosinolate in seeds
Leads to hyperinvasive cells
Mutant strains no longer develop heterocysts when grown in medium without combined nitrogen. Aerobically growing cells do not express nitrogenase, and do not grow in the absence of exogenous nitrogen. Cells grow normally under anaerobic conditions, even in the absence of nitrogen
Homozygous knockout mice lacking Slc25a25 are viable, born at the expected Mendelian ratio and fertile (PubMed:21296886). They display resistance to diet-induced obesity and reduced physical endurance (PubMed:21296886). Cellular metabolism is characterized by reduction in total mitochondrial and non-mitochondrial respiration, which leads to reduction in available ATP (PubMed:21296886)
Deletion of the gene significantly slows cell growth in 20% sucrose. The mutant is more susceptible to colistin, nafcillin, paromomycin, spiramycin and D,L-serine hydroxamate than the wild type
Deletion mutant loses the ability to synthesize either cyclohexanecarboxylic acid or ansatrienin
Mutants lacking this gene generate 25% less H(2)O(2) than the parent strain
Reduced trichome production on cauline leaves, stem internodes and branches, and sepals
Impaired in nitric oxide (NO) production in response to polyamines (PA) and abscisic acid (ABA) associated with reduced levels of hydrogen preroxide (H(2)O(2)) (PubMed:21471330). Reduced sensibility to ABA leading to a lower induction of ABA-responsive genes in response to ABA as well as abnormal growth regulation (PubMed:21471330). Altered responses to osmotic stress (PubMed:21471330)
No visible phenotype under normal growth conditions, but mutant plant display a dwarf and sterile phenotype when grown at 6 degrees Celsius and also show increased sensitivity to freezing temperature
Early flowering a reduced number of rosette leaves at bolting stage, but normal development of all other organs (PubMed:33107825, PubMed:25219852). Hyper-methylated genes with accumulation of H3K27me3 histone marks (PubMed:33107825). Reduced FLC expression (PubMed:25219852). Partially redundant with JMJ14. Brassinosteroid-insensitive phenotype. Plants lacking both REF6 and ELF6 have several growth defects, such as increased number of petals, reduced silique length, embryos with patterning defects, and pleiotropic defects in leaf morphology, such as serrations and downward curling; these defects are caused by epimutations arising in offspring lineage due to a lack of H3K27me3 resetting during sexual reproduction (PubMed:33107825)
Mutants show early embryonic lethality with lipid accumulation in the visceral endoderm (PubMed:31526472). Intestinal epithelial cell-specific knockout show accumulation of lipids in intestinal epithelial cells (PubMed:31526472)
Mice develop and grow normally but show infertility in both sexes. Infertility is due to a meiotic arrest at a zygotene/pachytene-like stage. DNA double strand break repair and homologous chromosome synapsis are impaired in meiocytes
Deficient mice shown normal body weight, an increased fat mass, decreased lean body, hyperglycemia and insulin resistance, proteinuria, renal calcium, phosphate wasting, impaired bone mineral density and defective testicular function
Mice show a higher mortality rate early in life
Disruption of pks15/1 abolishes the production of phenolphthiocerol
Conditional knockout mice lacking Daam2 in myocardial cells do not show any heart defects. Conditional knockout mice lacking Daam1 and Daam2 in myocardial cells show cardiomyopathy, which is stronger than with a single Daam1 deletion
Decreases cellular trehalose level during hyphal growth (PubMed:9006911). Sensitive to therml stress (PubMed:9006911)
Cells lacking this gene show an increase in virulence in mouse model of infection, with significantly shorter survival times (PubMed:12595424). In strain Mt103, disruption of the gene does not affect the intracellular multiplication capacity of the mutants in mouse bone marrow-derived macrophages (PubMed:11953357)
Normal germ layer specification and developmental patterning but limited anterior development and arrest by 8.5 dpc, likely due at least in part to defects in extraembryonic tissue
Cells do not make BMCs, diol dehydratase is found in diffuse aggregates near the cell pole; it was later found this a double pduA-pduBB' deletion (PubMed:11844753). A single deletion forms larger than normal BMCs; it is not fully complemented by protein produced from a plasmid (PubMed:21239588, PubMed:27561553). Grows in an interrupted manner on 1,2-PD and vitamin B12; grows for a while then stops, then restarts as toxic propionaldehyde accumulates and then decreases (PubMed:11844753, PubMed:28585808, PubMed:21239588, PubMed:18296526, PubMed:33227310). Increased DNA mutagenesis, showing propionaldehyde is a mutagen (PubMed:18296526). Makes slightly larger BMCs; this phenotype can be rescued by PduA, but PduJ encoded on a plasmid cannot rescue a PduA deletion. When pduJ is cloned in the chromosomal position of pduA it substantially rescues the pduA deletion (PubMed:27561553, PubMed:33227310). Single pduA deletion makes BMCs but a double pduA-pduJ deletion does not (PubMed:33227310)
Essential. Depletion experiments lead to cessation of growth, elongated cells and limited lysis, as well as decreased amounts of sigma-E. Not essential in an rseA deletion strain, when sigma-E is overexpressed or in ompA-ompC deletion strain. In the latter has severely decreased growth at 20 degrees Celsius. Accumulation of an RseA proteolysis intermediate
The egy mutant embryos that lack detectable sart3 expression display microcephaly, microphthalmia and die by 7 to 8 dpf. Pharyngeal arch formation is defective resulting in a thymus devoid of lymphocytes and exocrine pancreas development is also impaired
Mice are deaf at 4 weeks of age (PubMed:27269051). Show abnormal hair bundle morphology and polarity and stereociliary growth in the cochlea of the inner ear (PubMed:27269051). Display mislocalization of protein TPRN to the base of stereocilia (PubMed:27269051). Show reduced mechanotransduction currents in hair bundles of outer hair cells (PubMed:27269051). Mice show impaired neutrophil chemotaxis, increased neutrophil adhesion to endothelial cell and reduced neutrophil infiltration into inflamed peritonea (PubMed:25588844). Display increased chemokine-induced RHOA activity and mislocalization of myosin light chain MYL2 in neutrophils (PubMed:25588844)
Defects in DRC1 give the pf3 phenotype characterized by reduced swimming speed and abnormal ciliary waveform characterized by reduced shear amplitude. Severe defects in assembly of the N-DRC and several inner-arm structures seen
Loss of competence, the ability to bind, take-up and integrate exogenous DNA. Loss of the ability to ferment ribose or xylose
RNAi-mediated knockdown causes embryonic lethality, vulval and gonad migration defects, and animals that survive have mild to severe body morphology defects (PubMed:26953187). A marker of the lateral hypodermal (seam cell) fate, scm, is expressed ectopically in some P cell nuclei during the early larval L1 stage (PubMed:26953187)
No visible phenotype (PubMed:21220098). Viable and fertile but their response to environmental cues such as temperature, humidity and odorants is impaired (PubMed:21220098, PubMed:26580016, PubMed:27126188, PubMed:27161501, PubMed:27656904). Response of ac4 coeloconic sensilla neurons to agonist phenylethylamine and of ac2 sensilla neurons to agonist 1,4-diaminobutane is abolished (PubMed:21220098). Response of dorsal organ cool cells to changes in temperature is abolished and consequently larvae fail to avoid cool temperatures (PubMed:27126188, PubMed:27161501, PubMed:27656904). Response of sacculus neurons to changes in humidity is also abolished and consequently larvae fail to move towards their preferred humidity (PubMed:27161501, PubMed:27656904). Failure to synchronize in constant light or constant dark to shallow temperature cycles with an amplitude of 2 degrees Celsius (PubMed:26580016). In constant light, mutants display constant activity throughout the temperature cycle in contrast to controls which show a clear activity peak in the second part of the warm period before and after a 6 hour shift of the temperature cycle (PubMed:26580016). In constant dark, mutants do not shift their evening peak during the temperature cycle in contrast to controls which advance or delay their evening activity peak during phase-advanced or phase-delayed temperature cycles (PubMed:26580016). Barely detectable levels of circadian rhythm protein tim in dorsal neurons DN1 and DN2 (PubMed:26580016). RNAi-mediated knockdown in chordonotal neurons disrupts synchronization of locomotor activity rhythms with temperature cycles (PubMed:26580016)
No visible phenotype under normal growth conditions, but plants show increased sensitivity to mevastatin, an inhibitor of cytosolic isopentenyl diphosphate biosynthesis. Chloroplasts isolated from mutant plants lack sodium-dependent pyruvate uptake activity
Disruption of this gene induces 30 genes and represses 10 genes more than fourfold. It decreases biofilm formation, increases extracellular indole, leads to colanic acid overproduction and elicits mucoidy
RNAi-mediated knockdown causes a significant increase in the abundance of C18:0 fatty acid, as well as a decrease in the levels of C18:1n9 and C18:2n6 fatty acids (PubMed:15719061). Slight reduction in polyunsaturated fatty acids (PUFAs) (PubMed:15719061). Widespread vacuole formation, germ line necrosis and shortened life-span (PubMed:15719061)
Mice display renal agenesis at birth due to a developmental delay. This delay is associated with a reduced expression of Gdnf and is similar to the one found in mice lacking Itga8
Mice die perinatally and exhibit spleen, lung and brain developmental anomalies (PubMed:28413018, PubMed:28007986). Display less matured and differentiated embryonic cortical neurons (PubMed:28007986). Display reduced ubiquitin-dependent membrane protein trafficking from early to late endosomes (PubMed:28413018). Show reduced prostaglandin E2 biosynthesis in embryonic brain, lung and heart, but not in liver at 18 dpc (PubMed:28007986)
No visible phenotype under normal growth conditions, but mutant plants have reduced content of cutin, loose cuticle membrane ultrastructure, show increased permeability to water vapor and display enhanced disease severity to a virulent strain of the bacterial pathogen P.syringae
No visible phenotype. Mice appear healthy and normal. Neutrophils from mutant mice display unchanged Selplg-mediated cell-cell adhesion and Selplg expression at the cell membrane is unchanged
RNAi-mediated knockdown results in reduced survival and reduced pmk-1 phosphorylation in response to the heavy metal arsenite
Reduced level of apoptotic cell phagocytosis (PubMed:19927123). Loss of both Prtp and CaBP1 does not cause a further decrease in the reduced level of phagocytosis seen in either Prtp-lacking or CaBP1-lacking embryos (PubMed:22158613)
Cells lacking this gene grow normally on glucose but are unable to grow on fructose, mannose, mannitol or sucrose
Leads to reduced growth and sporulation, but does not affect virulence in infected mice (PubMed:25582336). Impairs the production of isoquinolines (PubMed:27065235)
Strong fatty acid chain length ratio (CLR) reduction
Simultaneous knockout of FPK1 leads to decreased phosphatidylcholine and glucosylceramide transport into the cell
Cells lacking this gene are defective in aerobic degradation of propanediol (PubMed:9023178). Most cells lack BMCs, 22% have highly elongated internal structures, 20% have amorphous polar bodies. Grows in an interrupted manner on 1,2-PD and vitamin B12; grows for a while then stops, then restarts as if a toxic compound was accumulating and then decreases (PubMed:21239588). Grows faster under limiting vitamin B12 conditions, forms elongated BMCs (PubMed:24747050). A double pduJ-pduK strain grows in an interrupted manner on 1,2-PD and vitamin B12; grows for a while then stops, then restarts as toxic propionaldehyde accumulates and then decreases (PubMed:18296526). Makes elongated BMCs; this phenotype can be rescued by PduA or PduJ, but PduJ encoded on a plasmid cannot rescue a PduA deletion. When pduJ is cloned in the chromosomal position of pduA it substantially rescues the pduA deletion (PubMed:27561553, PubMed:33227310). Single pduA deletion makes BMCs but a double pduA-pduJ deletion does not (PubMed:33227310)
Embryonic lethality (PubMed:31145769). Conditional knockdown in ovary leads to female sterility, possibly caused by dysregulation of miRNAs and mRNAsso (PubMed:31145769)
Mice die at birth of respiratory failure due to a low number of attenuated type I cells, narrow and irregular air spaces, and defective formation of alveolar saccules (PubMed:12654292). Knockout Pdpn mice neonates are smaller, and approximately 55% died during the first postnatal week. However, approximately 20% survived, had normal weights and life spans, and are fertile (PubMed:20110424)
Produces purely unacetylated sophorolipids. Yields mainly lactonic SLs, in addition to minor amounts of acidic SLs
During infection of Swiss Webster mice, lack of PDEgamma reduces peak blood stage parasitemia (PubMed:25784701). In the mosquito, development of oocyst sporozoites is not affected (PubMed:25784701). However, sporozoites released from the oocyst have higher cGMP levels, are immotile and fail to invade the salivary glands and, thus, parasite transmission to the mammalian host is impaired (PubMed:25784701). In addition, in sporozoites, mRNA levels of PDEbeta and PDEdelta are up-regulated and several transcripts encoding proteins involved in sporozoite invasion of mosquito salivary glands and sporozoite infectivity such as TRAP and CSP are down-regulated (PubMed:25784701)
In null mutant mice, no subcerebral projection neurons are born and no cortical projections to the brainstem or the spinal cord ever develop. In contrast, other populations of neurons are unaffected. There seems to be a redundant role for FEZF1 and FEZF2 in diencephalon development
Cells lacking this gene no longer produce detectable amounts of L-propargylglycine and L-beta-ethynylserine, that are terminal alkyne-containing amino acids produced by wild-type S.cattleya
Embryonic lethal with the production of multinucleated cells from the one-cell stage of embryogenesis leading to the in utero accumulation of abnormal and enlarged embryos
Slower growth in media containing valine, leucine plus isoleucine, or leucine plus valine
Does not produce ergothioneine in either conidia nor mycelia
Mice display reduced spatial learning and memory capability, associated with absence of proton-gated currents in hippocampal neurons and impairment of hippocampal long term potentiation (LTP). They also show an increased mechanosensitivity of colonic and gastroesophageal mechanoreceptors and prolonged gastric emptying and an altered fear conditioning
Impairs the production of monodictyphenone. but still enables the production of intermediates untill emodin
Reduced rosette size, wide stem angles and delayed flowering (PubMed:27207856). Rapidly degraded leaves starch in a nonlinear fashion during the night, so that reserves are exhausted 2 hours prior to dawn; this phenotype is probably due to an altered starch granule matrix organization (PubMed:27207856). Reduced starch content in nonphotosynthetic parts (e.g. cells immediately adjacent to veins, columella cells of root caps, stems, flowers and siliques) (PubMed:27207856). Absence of starch granules in hypocotyl endodermis and root columella leading to impaired endodermal plastids sedimentation and reduced hypocotyl negative gravitropism in the dark associated with reduced hypocotyl negative gravitropism but normal phototropism, leading to axillary branches with wider branch angles (PubMed:34367195). However, accumulation of starch granules in hypocotyl cortex and cotyledons at the end of long days (PubMed:34367195). In the double mutant esv1-2 lesv-1, starch is more rapidely degraded during the night (PubMed:27207856)
RNAi-mediated knockdown results in lethality (PubMed:27568554). RNAi-mediated knockdown in neurons shortens lifespan and severely impairs climbing ability (PubMed:28198506). RNAi-mediated knockdown in the developing eye decreases ommatidia number and disrupts ommatidial array (PubMed:28198506). RNAi-mediated knockdown in neurons and, more specifically, in alpha/beta or gamma mushroom body neurons, impairs mitochondrial calcium entry and decreases intermediate-term memory after conditioning (PubMed:27568554). Does not affect olfactory learning (PubMed:27568554)
Decreased response to vernalization, the promotion of flowering by prolonged cold
Abnormal patterning of the somatic body wall muscles with numerous ventral and lateral muscles that fail to extend or are missing and reduced levels of integrin beta-ps at dorsal muscle myotendinous junctions (PubMed:23213443). Defects in salivary gland invagination, migration and lumen shape and mislocalization of the integrin-binding protein rhea/Talin (PubMed:23862019). Defects in motor axon guidance with failure of motor axons to defasciculate from one another and innervate their proper muscle targets (PubMed:15282266). Wings display disrupted posterior crossveins (PubMed:26440503). RNAi-mediated knockdown in malpighian tubule principal cells inhibits NPLP1-4-mediated increases in fluid transport rates and cGMP levels, inhibits NPLP1-4-mediated nuclear translocation of NF-kappa-B protein Rel and abolishes expression of the antimicrobial peptide diptericin (PubMed:21893139)
Mice show early embryonic lethality shortly after implantation
Myeloid-specific conditional knockout mice have a reduced survival following Salmonella systemic infection. Upon infection, they show increased levels of several serum pro-inflammatory cytokines and chemokines produced by activated neutrophils and monocytes
Leads to a decreased production of conidia and a reduced radial growth by about 20% on potato dextrose agar plates (PubMed:30279684). Leads also to increased sensitivity to the xenobiotics 2,3,5-triiodobenzoic acid (TIBA) and 2-chloro-5-hydroxypyridine (CHP), CuCl(2) and several fungicides including clotrimazole, fludioxonil, vinclozolin, and iprodione (PubMed:30279684). Increases also the sensitivity to potassium superoxide KO(2) and the singlet oxygen-generating compound hematoporphyrin (PubMed:30279684). Does not affect the sensitivity to H(2)O(2), singlet oxygen-generating compounds rose Bengal and eosin Y, or to the cell wall disturbing compound Congo red (PubMed:30279684)
Mutant hermaphrodites have a defect in the invagination of the vulva epithelium and produce fewer eggs (PubMed:12761549). A similar defect is observed in RNAi-mediated knockdown (PubMed:12761550). In addition, RNAi-mediated knockdown in embryos shows severe cell division defects including cytokinesis reversal and increased number of nuclei per cell resulting in early embryonic death in utero (PubMed:12761550). RNAi-mediated knockdown in adults shows a normal sperm production (PubMed:12761550)
Mice have disturbed cranial growth and suture activity
RNAi-mediated knockdown on a pha-1 or on a lin-35;ubc-18 mutant background produces a high percentage of animals with the Pun (pharyngeal unattached) phenotype, whereby the pharynx fails to elongate and form an attachment to the anterior alimentary opening or buccal cavity
Both pdlp2 and pdlp3, and pdlp1 and pdlp3 double mutants show altered protein diffusion (measured using GFP). In pdlp1, pdlp2 and pdlp3 triple mutant there is inhibition of GFLV 2BMP tubule formation. Virus cell-to-cell movement is negatively affected. There is a 22% reduction in mean surface area of infection foci by GFLV and an approximately 12 h delay in long distance movement in comparison to wild-type plants. There is also a systemic delay in Cauliflower mosaic virus (CaMV) spread
Small and narrow leaves
Severe lymphophenia, leading to death soon after birth
Severe growth and developmental retardation. Dwarf plants with small organs, altered organ structure and nonviable seeds
No visible phenotype under normal growth conditions, but the double mutant plants erex and erel1 exhibit severe growth retardation at a juvenile stage
Reduced cell death is observed upon infection with a mutant deficient in Monalysin production. This mutant is affected in its abilities to induce cell damage in the Drosophila gut. It induces lower level of stress and repair pathway activity than wild-type
Mutants are viable, are born in the expected Mendelian ratios and have similar numbers of myeloid and lymphoid cell subsets as wild-type animals (PubMed:20212065). Inhibition of autoimmune joint inflammation and preservation of bone density (PubMed:20212065)
Decreased sensitivity to ABA and salt and osmotic stresses during seed germination and early seedling development
Abolishes the production of gramillins A and B
Under iron limitation, the ripA deletion mutant shows a 2-fold higher aconitase activity and a higher mRNA level for the acn, catA, leuCD, narKGHJI, sdhCAB and pta genes
RNAi-mediated knockdown abolishes localization of tfg-1 to endoplasmic reticulum exit sites (ERES)
Attempts to construct an in-frame deletion of the phpP gene were unsuccessful and an allele encoding inactive D231A PhpP phosphatase is lethal in a wild-type genetic background. This suggests that PhpP is essential (PubMed:19502404). Another group has generated a phpP deletion using a two-step negative selection strategy, which has a hyper-phosphorylated phenotype. Cells grow more slowly, are smaller and form short chains, reach a lower final density, are more sensitive to oxidative stress, growth is impaired at 40 degrees Celsius, competence is decreased and mild defects are seen in cell division. Unlike the stkP deletion, cells are unaffected by high salt, acidic and basic pH (PubMed:27776484)
Embryos die in utero at 11 dpc (PubMed:15226444, PubMed:17013884). Exhibit extraembryonic, intraembryonic, vascular and neural tube defects and cardiac abnormalities at 9.5 dpc (PubMed:17013884). Show a reduced number of circulating blood cells (PubMed:17013884). Show failure of chorioallantoic fusion (PubMed:15226444). Exhibited increased level of VEGFA protein level in embryonic fibroblasts under both normoxic and hypoxic conditions (PubMed:17013884). Knockout mice lacking both ZFP36L1 and ZFP36L2 during thymopoiesis lead to aberrant T cell development and subsequently develop a T-cell acute lymphoblastic leukemia (T-ALL) (PubMed:20622884). Show also higher levels of NOTCH1 protein and mRNA in thymocytes (PubMed:20622884). Conditional knockout mice of both ZFP36L1 and ZFP36L2 in pro-B cells display reduced B lymphocyte number and delayed variable-diversity-joining (VDJ) recombination (PubMed:27102483). Exhibit also increased protein and ARE-containing mRNA expressions of several factors implicated in cell cycle progression in late pre-B cells (PubMed:27102483)
RNAi-mediated knockdown in neurons results in age-dependent behavioral deficits and neurodegeneration, which is further enhanced when the knockdown is in both neurons and glial cells; the defects include age-dependent locomotor deficits, increased susceptibility to oxidative stress and glutamate excitotoxicity, increased age-dependent appearance of vacuoles in the central neuropil and optic lobes of the fly brain, and shortened lifespan
Inactivation promotes nuclear redistribution of dve-1, induction of ubl-5 and complex formation with dve-1
Delayed cell divisions/cytokinesis. Dysfunctional development of intestinal and pharyngeal cells. Mislocalization of p-granules to the nuclei at the 4- and 12-cell embryonic growth stages. Loss of cell polarity during cell divisions
Cells lacking this gene do not produce (+)-caryolan-1-ol
Temperature-sensitive sterility in both hermaphrodites and males which, in hermaphrodites, is associated with disorganized gonads and with impaired production of endomitotic oocytes, likely due to a defect in oocyte maturation which often results in vulva protrusion (PubMed:12435362). Both hermaphrodites and males produce sperm but it is defective (PubMed:12435362). In addition, the formation of P granules is disrupted in later stage of oogenesis and the protein levels of glh-1, a component of the P granules, are increased (PubMed:12435362, PubMed:17699606). Old adults are bloated and move more slowly (PubMed:17699606). Hypersensitivity and impaired up-regulation of several genes in response to heavy metals (Cu(2+) and Cd(2+)) and to bacterial pore-forming toxins exposure (PubMed:15256590, PubMed:15116070, PubMed:21408619, PubMed:23437011). RNAi knockdown at different developmental stages shows age-dependent defects: larvae are hypersensitive to cadmium and protein folding stress and have a reduced survival capacity but these effects are not observed in adults (PubMed:22554143). Impaired fasting-induced longevity (PubMed:23352664). RNAi knockdown in adults results in increased daf-16 nuclear localization in intestinal cells but not in response to fasting (PubMed:22554143, PubMed:23352664). Mutants have impaired axon regeneration (PubMed:21670305)
Mutants display increased sensitivity to acid stress at pH 2 and pH 3
Cells are not viable
Cells lacking this gene displayed a marked decrease in growth under anaerobic conditions using either DMSO or TMAO as terminal electron acceptors
RNAi-mediated knockdown results in 43% lethality of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown together with fox-1 results in hermaphrodite embryonic lethality (PubMed:21471153, PubMed:33372658). This hermaphrodite-specific lethality is suppressed in a sea-2 bp283 mutant or sea-1 gk799 mutant background (PubMed:21471153). RNAi-mediated knockdown results in hermaphrodites lethality due to failure of the dosage compensation complex to assemble on X chromosomes in a fox-1 y303 mutant background (PubMed:17720939). RNAi-mediated knockdown in a background containing one copy of the fox-1 gene results in the viability of 3% of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown in a strain where all of the GCACG and GCUAG motifs in intron 6 of the xol-1 gene have been mutated to AUACA and AUAUA, respectively results in the viability of 1% of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown in a strain where all of the GCACG and GCUAG motifs in intron 6 of one copy of the xol-1 gene have been mutated to AUACA and AUAUA, respectively results in the viability of 7% of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown in a strain where all of the GCACG motifs in intron 6 of the xol-1 gene have been mutated to AUACA results in the viability of 24% of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown in a strain where all of the GCACG motifs in intron 6 of one copy of the xol-1 gene have been mutated to AUACA results in the viability of 18% of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown in a strain where all of the GCUAG motifs in intron 6 of the xol-1 gene have been mutated to AUAUA results in the viability of 33% of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown in a strain where all of the GCUAG motifs in intron 6 of one copy of the xol-1 gene have been mutated to AUAUA results in the viability of 13% of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown in a strain where all of the GCACG and GCUAG motifs in intron 6 of the xol-1 gene have been mutated to GCUUG results in the viability of 8% of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown in a strain where all of the GCACG and GCUAG motifs in intron 6 of one copy of the xol-1 gene have been mutated to GCUUG results in the viability of 36% of hermaphrodites (PubMed:33372658). RNAi-mediated knockdown in strains containing five or three fox-1-binding GCACG motifs in intron 6 of the xol-1 gene results in the viability of 49% and 33% of hermaphrodites, respectively (PubMed:33372658)
Defects in associative learning, such as temperature learning, olfactory adaptation and integration of two sensory signals (PubMed:18381821, PubMed:19287492). Mutants display hyperactive sensory neurons, resulting in accelerated locomotion and motor circuit activity (PubMed:29475851). Worms show a reduced number of GABA vesicles at the synapse resulting in less GABA release from the presynaptic GABAergic motor neurons (PubMed:29529030)
Homozygous knockout pups have reduced Na(+) and water content in the skin at birth, but retain higher levels of Na(+) and water in the skin throughout development and into adulthood at the expense of K(+), manifesting hypokalaemia by 15 days of age and contributing to salt sensitive hypertension
Does not affect 2-benzoxazolinone (BOA) degradation
Exhibits reduced capacity to take up amino acids and to switch to the hyphal form, and impairs response to farnesol
Forms BMCs with a variety of morphologies, including elongated, enlarged, and aggregated MCPs and some with rounded cross-sections. Grows in an interrupted manner on 1,2-PD and vitamin B12; grows for a while then stops, then restarts as if a toxic compound was accumulating and then decreases
Insensitivity to root growth regulation by root CLE peptides (e.g. CLE8, CLE9/CLE10, CLE11, CLE13, CLE14, CLE16, CLE17, CLE18, CLE20, CLE21, CLE25, CLE26, CLE40, CLE41/CLE44 and CLE45) (PubMed:28607033). Impaired interaction with CRN (PubMed:27229734). Stem cell proliferation leading to enlarged shoot and flower meristems, as well as alterations in the development of the gynoecia, flower pedicels, and stamens. Reduced sensitivity to CLV3, CLE19 and CLE40 peptides. Ectopic fruit organ initiation after floral meristem termination (PubMed:21705761). Enhanced resistance to nematode infection (PubMed:21265896). Enhanced disease resistance response to the bacterial pathogen Ralstonia solanacearum and to the biotrophic oomycete pathogen Hyaloperonospora arabidopsidis (PubMed:26990325)
Leads to hypersensitivity to L-cysteine and sulfite. Abolishes the ability to grow on human hair and strongly impairs growth on human nails
The double mutant pdf2-1 hdg5-1 exhibits abnormal flowers with sepaloid petals and carpelloid stamens in association with a reduced expression of APETALA 3 (AP3) in the epidermis and internal cell layers of developing flowers
Leads to the loss of ochratoxin A (OTA) production and the down-regulation of the OTA biosynthetic genes (PubMed:35143724). Produces greater lesions on grape berries and is more tolerant to oxidative stress (PubMed:35143724)
AGBL2 and AGBL3 double mutants are viable and display no obvious phenotypic alterations
Knockout mice exhibit reduced female fertitily and impaired egg-sperm fusion (PubMed:16380109, PubMed:17290409). In response to notexin-induced acute myoinjury, mutant mice display abnormal muscle regeneration characterized by typical giant distrophic myofibres (PubMed:23575678). Mutant mice show reduced allergen-induced lung inflammation, eosinophilia and mucin production (PubMed:11046035). These mice spontaneously develop multinucleated giant cells (MGCs) and show enhanced osteoclastogenesis when compared to wild-type littermates (PubMed:12796480). CD81 and CD9 double knockout mice develop pulmonary emphysema, reminiscent of chronic obstructive pulmonary disease in human (PubMed:18662991)
(Microbial infection) Mutant mice are refractory to Plasmodium yoelii sporozoite infection
Worms exhibit premature cell cleavage during embryogenesis, symmetrical cell division during gonadogenesis and undifferentiated intestines. Embryos show a defect in centrosome positioning that delays ABar spindle alignment and appear to lack endoderm
Cells lacking this gene grow very poorly at 20 degrees Celsius, show a severe deficit of free 50S ribosomal subunits and accumulate an abnormal large ribosomal subunit. Disruption also impairs the processing of both 23S and 16S rRNAs
Host cells display necroptosis
Defective in retrograde plastid-to-nucleus signaling
RNAi-mediated knockdown results in failed centrosome duplication in embryos
May not be essential, 1 disruption mutant has been isolated
Death around 16.5 dpc because of severe anemia with a profound block in early B-cell development (PubMed:17495164). Conditional knockout in erythroid cells, leads to the expression of fetal globin in peripheral blood of adult mice and inefficient erythroid terminal differentiation (PubMed:26816381)
Altered PIN2 traffic
Temperature-sensitive and are only fertile at 20 degrees Celsius (PubMed:26787882). 25% of progeny arresting as late embryos and 9% as larvae at 26 degrees Celsius (PubMed:15238518). Surviving progeny are sterile at 26 degrees Celsius, most likely due to germline proliferation defects (PubMed:9741628, PubMed:15238518, PubMed:26787882). The temperature-sensitive period extends from mid-larvae to young adults (PubMed:9741628). Germline defects include increased apoptosis in the gonad, fewer germ nuclei, no sperm and no oocytes in the gonad arms (PubMed:15238518, PubMed:26598553). Double knockout with pgl-3 results in 37% of progeny arresting as late embryos and 9% as larvae at 26 degrees Celsius (PubMed:15238518). Double knockout with pgl-3 enhances the temperature-sensitive sterility phenotype and germline defects of the pgl-1 single knockout (PubMed:15238518, PubMed:26598553). The gonads of the double knockout with pgl-3 degenerate as the adults age (PubMed:15238518). Triple knockout with pgl-2 and pgl-3 results in 58% of progeny arresting as late embryos and 5% as larvae at 26 degrees Celsius (PubMed:15238518). Double knockout with him-3 decreases the number of self-cross progeny in the him-3 single mutant (PubMed:15238518). Triple knockout with pgl-3 and him-3 further reduces the number of self-cross progeny as compared to the pgl-1 and him-3 double mutant and him-3 single mutant (PubMed:15238518). Double knockout with ced-1 results in an increased number of cell corpses in the gonad as compared to the ced-1 single mutant (PubMed:26598553). Conversely, double knockout with ced-1 results in reduced somatic cell apoptosis (PubMed:27650246). Triple knockout with ced-1 and hpl-2 partially recovers the reduced somatic cell apoptotic cell defect in the ced-1 and hpl-2 double knockout (PubMed:27650246). Triple knockout with ced-1 and hpl-2 and knockdown with either ced-3 or ced-4 reduces the somatic cell apoptosis defect in the ced-1, hpl-2 and pgl-1 triple knockout (PubMed:27650246). Double RNAi-mediated knockdown with pgl-1 results in a reduced number of pos-1, mex-1 and glh-1 positive granules in embryos (PubMed:21402787). Quadruple RNAi-mediated knockdown with glh-1, glh-4 and pgl-3 results in offspring that display 27-89% sterility, abnormal oocytes and do not have embryos in the uterus (PubMed:24746798). These sterile offspring still produce sperm (PubMed:24746798). Furthermore, these offspring may have compromised P-granule integrity as there is diffuse cytoplasmic localization of the P-granule component deps-1, which may cause germ cells to initiate somatic reprogramming (PubMed:24746798). RNAi-mediated knockdown in a double ced-1 and hpl-2 mutant background rescues the reduced somatic cell apoptotic cell defect in the ced-1 and hpl-2 double knockout (PubMed:27650246)
Not essential (in strain K12 / BW25113)
Mice are impaired in lymphocyte homing and exhibit faster lymphocyte rolling and reduced lymphocyte sticking in HEV. The epitope of SELL ligands recognized by the MECA-79 antibody is greatly reduced or abolished in the abluminal aspect of HEV. Simultaneous knockdown of CHST4 and CHST2 results in lower contact hypersensitivity response when compared to wild-type littermates
RNAi-mediated knockdown causes a change in fatty acid composition, including an increase in saturated fatty acid 18:0 and decrease in unsaturated 18:1 (PubMed:16839188). In a fatty acid desaturase fat-6 mutant background, become thin, slow growing, reproductively inviable after 4 days, and accumulate very high levels of 18:0 saturated fatty acid (PubMed:16839188). In a fat-6 mutant background, also drastically reduces expression of fat-7 (PubMed:16839188). In either a fat-5 or fat-7 mutant background, accumulates high levels of 18:0 saturated fatty acid, but less so than in the fat-6 mutant background (PubMed:16839188). Significantly reduced lifespan in a glp-1 mutant background, but does not affect lifespan of wild type (PubMed:21423649). Knockdown in the first generation offspring (F1) of adults fed a high-fat diet prevents lipid accumulation (PubMed:35140229)
Loss of alcohol dehydrogenase activity (PubMed:3377754, PubMed:12509334). Increased resistance to allyl alcohol (PubMed:20508152). Decreased survival, associated with impaired lateral roots development, upon oxygen deprivation leading to hypoxic conditions (PubMed:12509334, PubMed:12857811). Impaired root acclimation to hypoxic stress (PubMed:9880346)
Mutations or insertions/deletions that inactivate MmpR5, or decrease its activity, lead to increased levels of MmpL5 and MmpS5, and to non-target based resistance to azoles, clofazimine and bedaquiline
Null mice are viable, but show an increased seizure rate compared to heterozygous mice, indicating a dosage effect. Heterozygous Prickle2 +/- mice have a decreased seizure threshold compared to wild-type
Eliminates approximately 70% of aspercryptin production (PubMed:26563584)
Inactivation leads to reduce the efficiency of secretion of the recombinant protein produced, although the protein produced is completely stabilized
Mice show reduced density of membrane caveolae in the arterial smooth muscle and the urinary bladder but show no loss of endothelial caveolae in lung and heart
Genetic ablation causes tissue-specific bidirectional dysregulation of several N-acyl amino acids (PubMed:29967167, PubMed:32271712). Locomotor activity and resting energy requirements (RER) are slightly increased and decreased, respectively, in PM20D1-KO mice on chow diet, while diet-induced obesity conditions produce a marked impairment in glucose homeostasis and insulin sensitivity in these mice. They also exhibit enhanced defense of body temperature in cold, and antinociceptive behaviors selectively in response to chemical and inflammatory pain stimuli while maintaining normal thermal pain sensation and normal movement (PubMed:29967167)
Disrupts blastomere cell fate. Excessive pharyngeal cells produced during embryogenesis. Reduced expression of nos-2 in P4 germline blastomeres and absence of nos-2 protein
Defects in lateral root initiation and in root and hypocotyl growth. Increased levels of endogenous free auxin
RNAi-mediated knockdown by injection into adults causes slow and spatially restricted movement of about 30% of their L1 larval progeny, which nonetheless grow normally and do not display any obvious phenotype as late larvae or adults (PubMed:11044397). However, simultaneous knockdown of forkhead gene pes-1 causes 12% of eggs produced by hermaphrodites to arrest development at late stages of embryogenesis and 81% arrest after hatching as L1 stage larvae (PubMed:11044397)
Cells have decreased chlorophyll content, with a 60% reduction in the content of photosystem I (PSI). The PSI that remains may have an altered structure. Cells grow normally under very low light (10 umol photons/m(2)/s) but are dramatically inhibited by low light at 40 umol photons/m(2)/s. Under this light intensity they also photobleach. Reduced rates of D1 processing and degradation are observed. Mutants show increased tolerance for non-ionic stress by maltose but also an increased sensitivity to high NaCl concentrations
Impairs the production of viridicatumtoxin, but accumulates a new naphthacenedione intermediate, the 8-O-desmethyl derivative of anthrotainin (PubMed:24161266)
Reduces the amount of thehalose in conidia, tolerance to heat, oxidative and osmotic stress (PubMed:26399184)
Loss of formation of agmatine, loss of arginine-dependent acid resistance
Disruption of the gene abolishes ZmA production
RNAi-mediated knockdown results in either embryonic lethality or arrest at the L2 to L3 larval stages (PubMed:17223323). RNAi-mediated knockdown results in a delay in somatic development (PubMed:17223323). RNAi-mediated knockdown does not cause sterility (PubMed:17223323)
Embryonic lethality resulting from placental defects
Cells lacking this gene exhibit a reduced growth on glucose as the sole carbon source, and they do not use the pentose phosphate (PP) pathway at all
No effect on the root lengths compared to those of wild-type plant under high salinity conditions
RNAi-mediated knockdown results in embryonic or larval lethality (PubMed:20230814). Surviving animals exhibit slow growth, gonad migration defects, vulval induction defects and reduced lin-3 expression (PubMed:20230814). Larvae that develop into adults are sterile, and only few produce embryos (PubMed:20230814). RNAi-mediated knockdown in males results in tail defects including underdeveloped tails, spicule defects and missing rays (PubMed:20230814). RNAi-mediated knockdown in a lin-3 e1417 mutant background abolishes vulval induction (PubMed:20230814). RNAi-mediated knockdown in a let-23 sa62 gain of function mutant background partially suppresses the multivulva phenotype in the let-23 mutant (PubMed:20230814). RNAi-mediated knockdown in a let-60 n1046 gain of function mutant background suppresses the multivulva phenotype in the let-60 mutant (PubMed:20230814)
Mutant animals are born normally at the expected Mendelian frequency. They exhibit much lower expression of genes encoding antibacterial molecules, much greater bacterial burdens and total mortality after infection with Citrobacter rodentium
Reduced meiotic crossover formation and sensitivity to the DNA-damaging agent methyl methanesulfonate (MMS)
Lethality. In a depletion experiment cells grow normally for 4 hours, at which time there is no detectable protein left. After 4 hours cell growth decreases rapidly, the amount of 50S ribosomal subunit decreases, rRNA precursors accumulate. A 40S ribosomal subunit is detected which is missing proteins L9 and L18 and has slightly reduced amounts of L2 and L6 compared to wild-type ribosomes
Results in lack of centrioles and cilium formation, defects in coordination and reduced fertility (PubMed:30013109, PubMed:33704067). In neurons, RNAi-mediated knockdown after centriole assembly does not affect neuronal cilium basal body, cilia formation or movement coordination (PubMed:30013109). In spermatocytes, RNAi-mediated knockdown before centriole biogenesis results in reduced centriole numbers and fertility (PubMed:30013109). On the contrary RNAi-mediated knockdown after centriole biogenesis does not affect the number of centrioles, but affects maturation of a full-length cilium basal body and reduces fertility (PubMed:30013109)
Mice exhibit abnormal development of the cerebellum and severe ataxia
Mice are viable and fertile, and do not show any obvious abnormality apart from an increased sensitivity to insulin (PubMed:12629211). The major brain gangliosides derived from GM3 (GM1a, GD1a, GD1b, and GT1b) are missing (PubMed:12629211)
(Microbial infection) Cerebellar granule cells are no longer susceptible to C.botulinum neurotoxin type C (BoNT/C), and syntaxin, the BoNT/C target, is not degraded. Cells remain susceptible to neurotoxins C.botulinum neurotoxin types CD and D (BoNT/CD and BoNT/D, botD) (PubMed:16115873). Knockout mice survive 6 times longer when injected intravenously with BoNT/C; the knockout has no effects on time of survival for BoNT/CD and BoNT/D (PubMed:16115873)
No discernible vegetative or reproductive phenotypes except a slight reduction of both male and female transmission efficiency, but decreased leucine biosynthetic enzyme activities and lower free leucine concentrations. The double mutant ipmdh2 ipmdh3 is lethal in male gametophytes (small aborted pollen grains abnormal in cellular structure, and arrested in germination) and had reduced transmission through female gametophytes (slow embryo sacs development)
Hypersensitivity to ultraviolet-B (UV-B) illumination (PubMed:12226503, PubMed:28735869). Abrogated induction of DHU1 in response to UV-B (PubMed:28735869). Disruption in a plant lacking DHU1 alleviates its hypersensitivity to UV-B (PubMed:28735869)
Sensitive to methyl methanesulfonate (MMS, causes DNA breaks), hydroxyurea (HU, ribonucleotide reductase inhibitor), thiabendazole (TBZ), sirolimus (TORC1 inhibitor), and cold (PubMed:28775286). Simultaneous disruption of dph3 exacerbates sensitivity to HU and MMS (PubMed:28775286)
Mutant cannot produce PTT. PhsC cannot take on the function of PhsB and vice versa
Results in the significant down-regulation of cluster B, whereas it exerts no influence on cluster A
No visible phenotype, but enhanced susceptibility to virulent Pseudomonas bacteria and oomycete pathogens
Dwarf plants with chlorotic leaves. Accumulation of Mg-protoporhyrin after feeding with 5-aminolevulinic acid
Lethal. There are fewer embryos than expected at late stages of gestation; they weigh about 30% less than control animals, but appear otherwise normal. Mice die shortly after birth. Tissue-specific disruption increases the half-life of PER2 protein and alters circadian protein expression dynamics
Mutant shows increased sensitivity to chloramphenicol and cefoperazone, a third-generation cephalosporin
Deletion leads to loss of fimbriation and a decrease of hemagglutination
Results in a decreased CrebB protein translation or stability in the brain. RNAi-mediated knockdown in the mushroom bodies results in a reduction of memory formation, including anesthesia-sensitive memory (ASM) and long-term memory (LTM) performance but not anesthesia-resistant memory (ARM) or learning ability
Enhances sterility conferred by rnp-4 disruption. Combined with emb-4 knockdown, leads to accumulation and leakage of unspliced ama-1 and tra-2 to the cytoplasm, severe growth retardation and arrest in larval stages, and loss of interaction of rnp-4 with pre-mRNA and spliceosomal U snRNAs
Drastically increases HMG2 half-life
Mutants grow and divide normally on LB medium (PubMed:28708841, PubMed:33315009, PubMed:33847565, PubMed:35604759). However, mutants show severe growth defects under cell envelope stresses (PubMed:35604759). Loss of the gene increases membrane fluidity (PubMed:33315009). Disruption results in susceptibility to vancomycin, SDS, cholate and deoxycholate (PubMed:33315009, PubMed:33847565). EnvC-dolP, amiA-dolP, ftsE-dolP and ftsX-dolP double mutants show a chaining phenotype (PubMed:28708841, PubMed:35604759)
Adult mice display chylomicronemia when kept on a normal chow diet, with milky-looking blood plasma due to marked accumulation of chylomicrons in the plasma. Their plasma triglyceride levels are generally above 1000 mg/dl and can be as high as 5000 mg/dl. Mice display decreased plasma levels of lipoprotein lipase LPL (PubMed:17403372). Contrary to wild-type, LPL is not recruited to the apical surface of endothelial cell that faces the lumen of capillaries, but is mislocalized to the interstitial spaces surrounding myocytes and adipocytes (PubMed:20620994, PubMed:24726386, PubMed:27811232)
Precocious germination and early seedling lethality; probably due to molybdenum cofactor (MoCo) defects, a cofactor required for abscisic acid (ABA) biosynthesis
Mutant cannot grow with IAA as the sole carbon source
Delayed timing of petal abscission
Reduced secretion of root-derived phenolics upon iron ions (Fe) depletion, thus leading to their accumulation in the root interior. Impaired P.fluorescens WCS417r-mediated broad-spectrum induced systemic resistance (ISR) against several pathogens
Cells lacking this gene show an accumulation of 2-methylisocitric acid
Defective in leaf temperature decreases and stomatal opening in response to blue light
Causes hyperfilamentation, probably due to the elevated levels of 3-methylbutanal in the mutant
Lethal in a C57BL/6 background, while mice in a 129/Sv background are viable and healthy to adulthood. Mice in a C57BL/6 background do not survive beyond 12 dpc. Mice in a 129/Sv background may survive due to the presence of Nrif2/Zfp369, which is up-regulated in Nrif1 mutant mice in the 129/Sv background
Impairs the production of Asp-melanin (PubMed:28791090). Results in yellow fluorescent conidia and accumulates aspulvinone E in conidia (PubMed:27133313)
Growth not inhibited by chlorite during aerobic growth, slight reduction in lag-phase when grown on minimal medium with lactate and chlorite. Up-regulation of the SigF regulon (Dsui_0156 to Dsui_0159)
Small, slowly growing colonies. 5-fold decrease in basal sigma-E (RpoE) activity, loss of regular growth regulation of sigma-E. No proteolysis of full-length RseA
Deletion mutant together with deletion of toxin Tse5 leads to a significant loss of fitness advantage when placed in competition with parental strains
Impaired male mating behavior
Reduced plant height and extensive vegetative branching from both basal and aerial nodes
Worms exhibit various abnormalities in axonal elongation and axonal structures (PubMed:7958904). RNAi-mediated knockdown causes abnormalities in constitutive dauer formation in daf-2 e1370 mutant including a lack of autophagosome formation (PubMed:12958363)
Defects of chloroplast and FtsZ filament morphology (e.g. long FtsZ filaments formed by multiple rings or spirals); elongated chloroplasts with multiple division sites (PubMed:19453460, PubMed:19564892, PubMed:23936263). Aberrant stromule biogenesis in the leaf epidermis associated with giant and pleomorphic amoeboid chloroplasts, typically having one or more constrictions as well as one or more extremely long stromules (PubMed:28984364). Reduced number of enlarged etioplasts in cotyledons associated with the formation of multiple FtsZ-rings (PubMed:23936263)
Morpholino knockdown of the protein causes retinal ganglion cell dendrite stratification defects within the inner plexiform layer, as well as mistargeting of dendritic processes into outer portions of the retina
No visible effect on colonization of host tissue culture cells; no change in organ colonization in mice
General retarded growth with small curled leaves and short roots in seedlings, as well as delayed floral transition and lower fertility; these phenotypes are partly due to a reduced cell proliferation
RNA interference of this gene does not cause any visible changes in phenotype in larvae before pupation. At the pupation stage, 20% of the larvae show abnormal phenotypes. They fail to shed their old cuticles completely before starting to form new ones underneath
Mutant cpk11-2 shows reduced ABA and salt responsiveness in seed germination
The growth the dcuA-dcuB double mutant is severely impaired during anaerobic growth with glycerol plus either fumarate, malate or aspartate, whereas single mutants are either unaffected or less affected, depending on the C4-dicarboxylate (PubMed:8131924, PubMed:7961398). The triple mutant dcuA-dcuB-dcuC is completely devoid of C4-dicarboxylate transport (exchange and uptake) during anaerobic growth, and the bacteria are no longer capable of growth by fumarate respiration (PubMed:8955408). Mutant cannot grow with L-aspartate as the nitrogen source (PubMed:29995997)
Mice display the alymphoplasia phenotype (aly), which is characterized by systemic absence of lymph nodes and Peyer patches and disorganized splenic and thymic structures with immunodeficiency
Cells lacking nagE and nagA reduce by 50% the amount of GlcNAc6P. Together with the mutations of the genes of the peptidoglycan recycling pathway (ampG, anmK, murQ, nagK and nagZ), the accumulation of GlcNAc6P is eliminated
In the double mutant map3k17 map3k18, impaired MPK7 activation mediated by abscisic acid (ABA)
No visible phenotype under normal growth conditions, but the double mutants hdg11 and hdg12 exhibit excess branching of trichomes (PubMed:16778018). The double mutant pdf2-1 hdg12-2 exhibits abnormal flowers with sepaloid petals and carpelloid stamens in association with a reduced expression of APETALA 3 (AP3) in the epidermis and internal cell layers of developing flowers (PubMed:23590515)
Deficient mice display hypoglycaemia, growth retardation, hepatomegaly, kidney enlargement, hyperlipidaemia, and hyperuricaemia
Severe developmental defects
The nadB-pncA double mutant can grow only in a minimal medium supplemented with niacin (nicotinamide or nicotinic acid)
Reduced length of root hairs
Mutant exhibits similar responses to carbon starvation stress suggesting that PprB-mediated transcriptional response is not transmitted through PprA
Mutant mice are born at the expected Mendelian rate and have normal developmental and reproductive potential
Has statistically significant lower desiccation tolerance capacity
Knockout mice appear healthy overall with some runting and a retinal degeneration phenotype. During embryonic development, at 16.5 dpc, they show defective midline fusion. Adult animals show a mild foliation defect in the cerebellum
Defective locomotion, reduced pumping rate and reduced brood size (PubMed:19290026). Defects in presynaptic and postsynaptic structures and functions in muscle cells (PubMed:19290026). Resistant to the acetylcholinesterase inhibitor aldicarb and to levamisole, an agonist for postsynaptic acetylcholine receptors in muscles (PubMed:19290026). Double knockout with the syd-2 mutant ju37 increases resistance to aldicarb and levamisole (PubMed:19290026)
Loss of viability. Cells lacking sufficient quantities of this protein undergo morphological changes, namely, swelling and twisting of the cells followed by cell lysis. A polymeric material accumulates at one side of the division septum of the cells and the presence of this material correlates with the bending of the cell. After prolonged depletion in the presence of MgCl(2), the cells become very short and fat and eventually spheroidal, but no significant lysis is observed. Addition of sucrose results in rounded cells. Cells are still capable of making division septa. Null mutants show little or no sign of a defined long axis and have a severe shape defect
Reduced pain sensitivity and moderate behavioral abnormalities, but have normal fertility and are generally not very different from wild-type
Reduced parasite survival in the mosquito. Parasites produce normal numbers of oocysts when included in the blood meal of the mosquito vector
No change in H(2)S production, no change in basal oxygen consumption (respiration rate)
RNAi-mediated knockdown results in reduced ubiquitination at DNA damage sites (PubMed:16628214). Inappropriate survival of male gonadal linker cell (PubMed:26952214)
Male mutant mice have reduced fertility associated with reduced sperm cell motility, aberrant acrosomes and flagella resulting in poor morula development. The litter size after intercrossing heterozygous mutant male and female mice is significantly smaller when compared to wild-type mice. Nevertheless, mutant offspring are born at approximately Mendelian proportions, have normal survival, appearance and behavior (PubMed:20424323). Mutant mice are resistant to both passive systemic and active cutaneous anaphylaxis (PubMed:23624557). In models of colon carcinogenesis either induced by azoxymethane procarcinogen or upon activation of oncogenic Wnt/beta-catenin signal due to a mutation in the APC gene (model of human familial adenomatous polyposis), mutant mice are resistant to tumorigeneis showing markedly decreased total tumor burden in the colon. In a colitis model induced by toxic dextran sulfate sodium, mutant mice are protected from shortening of the colon length and mucosal inflammation and rapidly recover from epithelial injury (PubMed:28947740)
RNAi-mediated knockdown decreases invasion of human nasal epithelial cells by R.delemar (PubMed:32487760). Simultaneous RNAi-mediated knockdown of CotH2 and CotH3 decreases invasion of human epithelial cells (PubMed:24355926). Simultaneous RNAi-mediated knockdown of CotH2 and CotH3 decreases virulence in a mouse model of ketoacidosis (PubMed:24355926, PubMed:27159390). Simultaneous RNAi-mediated knockdown of CotH2 and CotH3 does not lead to sensitivity to cell wall stress (induced by Congo Red, Calcofluor White, hydrogen peroxide, sodium dodecyl sulfate, or Triton X-100) or alter resistance to killing by phagocytes (PubMed:24355926)
Mutant is defective in processing and surface anchoring of internalins and several other LPXTG-containing proteins (PubMed:11854224, PubMed:11929538, PubMed:22837151, PubMed:16247833). Mutant is significantly less invasive in vitro and is attenuated in virulence in a mouse model of infection (PubMed:11854224, PubMed:11929538). Deletion of the gene does not affect expression of the genes encoding LPXTG surface proteins (PubMed:22837151). A double srtA-srtB deletion mutant has no cell wall-anchored proteins, and is as impaired in virulence as a single srtA mutant (PubMed:15028680)
Mice grow normally and do not display any visible phenotype but show reduced physical endurance (PubMed:26668395). Mice do not show skeletal deformities, differences in bone density, growth abnormalities, blood pressure nor body composition changes (PubMed:26668395)
Enhanced susceptibility to the virulent bacterial pathogen Pseudomonas syringe and to the fungal pathogen Erysiphe cichoracearum (powdery mildew)
RNAi-mediated knockdown results in defects in feeding, and failed growth and development eventually leading to lethality at the larval stage of development. Morphological and functional defects around the pharyngeal intestinal valve and intestine boundary with multiple cavities surrounding the isthmus of the pharynx in 1 to 2 day old larvae, and accumulation of ingested bacteria in the anterior intestine
Embryos die before 15.5 dpc and show severe cardiac morphological defects and altered heart-specific gene expression. Some, but not all, of the homozygotes develop an abnormal groove in a region just anterior to the midbrain-hindbrain boundary on the neural plate at 8-8.5 dpc and show a defect in neural tube closure in the midbrain region. Variable phenotypes are observed depending on the genetic backgrounds: mutant mice with a C57BL/6J X 129S1/Sv genetic background die upon birth and show cardiac defects such as ventricular septal defects, double-outlet right ventricle, and thin ventricular wall at later embryonic stages. In addition to the thin ventricular wall, mutant embryos with a pure BALB/c background show deficient cell growth in the liver, thymus, and spleen. In contrast, mutant mice with a C3H/He genetic background die at 11.5 dpc, which exhibit hyperplasia and increased cyclin-D1 (CCND1) expression in the trabecular layer of the ventricle at 10.5 dpc
In S.stephensi mosquito vector, number of oocysts in the midgut, number of sporozoites in the salivary glands, and sporozoite gliding motility are normal (PubMed:31334132). Infection of mouse host is normal including invasion of hepatocytes and infection of erythrocytes (PubMed:31334132)
Leads to decreased endochitinase and exochitinase activities following heat-shock treatment
When associated with BAM1 and BAM2 disruptions, loss of stem cells at the shoot and flower meristems. The disruption of BAM3 restores root protophloem and mersitem phenotypes observed in brx mutants (PubMed:23569225). The bam3 mutant resists to root growth inhibition mediated by CLE45 peptide ligand (PubMed:23569225)
Plants display lower boric acid uptake into roots, lower biomass production, and increased sensitivity of root and shoot development to boron deficiency
Knockout mice show embryonic lethality at 14.5 dpc (PubMed:11784869). Lethality is due to a critical role in the trophoblast stem cells which form the outer layer of fetal part of the placenta. Alters syncytiotropoblast-I layer I (SynT-I) fusion while SynT-II cell fusion does not seem to be affected, indicating a cell autonomous role in SynT-I fusion (PubMed:29500366). Konckout mice specific to immune cells are highly susceptible to the murine coronavirus, mouse hepatitis virus (PubMed:32704094)
No visible phenotype under normal growth conditions, but mutant plants display decreased ABA sensitivity in seed germination, root elongation, and stomatal movement and have decreased tolerance to high salinity and water deficiency. Root hair elongation defects under low inorganic phosphate conditions
RNAi-mediated knockdown in adults does not result in a visible phenotype (PubMed:34411095). However, simultaneous knockdown of EGFRAP (CG33993) and PVRAP results in the development of ectopic sensory organs in the notum and blisters in the wings (PubMed:34411095). RNAi-mediated knockdown in the posterior compartment of the wing disks, increases expression of PEK (PubMed:34411095)
Leads to a reduction of both roquefortine C and meleagrin synthesis (PubMed:22118684, PubMed:23776469). Accumulates HTD and roquefortine D (PubMed:23776469)
Leads to improper processing of 35S precursor rRNA
Knockout mice are perinatal lethal and isolated embryonic cardiomyocytes exhibit arrhythmic calcium oscillations
MyoB and myoD double mutant exhibits reduction in the speed of whole cell translocation. myoB, myoC and myoD triple mutant exhibits reduction in the speed of whole cell translocation
The birth rate of knockout mice on a C57BL/6 background is very low (approximately 10% of pups). The animals appear normal, but their growth after birth is severely retarded. Half of them die by the end of the weaning period. Mutant mice have profoundly impaired T-helper type 1 lymphocyte (Th1)-mediated responses (PubMed:17998391). On a BALB/c background, under resting conditions, they show spastic or dystonic features and, during the open field test, they exhibit hyperactivity and anxiety. Their resting electroencephalography show enhanced activity in the fast beta frequency band (20-35 Hz). They do not show any apparent structural brain anomaly (PubMed:29394991)
Mutant mice display silvery coat color. This is associated with abnormal melanosome morphology and melanin deposits, likely due to deficient PMEL processing and amyloid fibril formation
Deletion mutant shows increased chlorhexidine susceptibility
According to PubMed:11011148, cells show no effect vegetative growth, spore resistance to heat, chloroform and lysozyme, or spore germination in the presence of L-alanine. According to PubMed:12177332, cells have no detectable alteration in either dormant or germinating spore peptidoglycan, and germinate normally
Decreased germination rates due to decreased alpha-amylase activity during seed germination. Increased susceptibility to infection by the fungal blast (Magnaporthe grisea), bacterial blight (Xanthomonas oryzae pv. oryzae, Xoo) and the herbivorous insect brown planthopper (Nilaparvata lugens, BPH). Almost no induction of the defense-related genes PR1A, LOX2 and CHS1 after exposure to biotic stresses
Upon infection by P.aeruginosa and E.faecalis, RNAi-mediated knockdown results in a reduced up-regulation of gst-4 and gcs-1 expression (PubMed:22216003). Causes a severe reduction in rnt-1 accumulation in the intestine during oxidative stress mediated by paraquat (PubMed:22308034). RNAi-mediated knockdown in a ced-1 mutant background causes a moderate reduction in germline cell apoptosis during oogenesis in response to oxidative and heat shock stresses. The phenotype is more severe and also affects the response to osmotic stress in a mek-1 and ced-1 mutant background (PubMed:16729024)
Constitutive expression of defense-related genes that accompany the hypersensitive response normally triggered by avirulent pathogens. Induction of growth inhibition, premature leaf chlorosis and defense-related programmed cell death (PCD) at the early seedling stage, leading to a lethal phenotype before flowering (PubMed:11850411, PubMed:15923330). Large increase of cell death inducer phytoceramide (PubMed:24412362)
Controversial; it has been found to be non-essential (PubMed:11805338). Has also been found to be essential (PubMed:15044829)
Short cilia
Leads to only a few rounds of cell division before arresting with an elongated cell (cdc) phenotype
Longer lag phase and slight reduction in growth rate between 20 and 45 degrees Celsius, no growth at 10 degrees Celsius. At 15 degrees Celsius the unusually long cells form large aggregates and are curved at the pole, with incompletely divided, thickened internal membranes. Decreased growth in the presence of H(2)O(2), diamide and at acidic and basic pH
Female are infertile despite successful ovulation (PubMed:28867294, PubMed:32943573). Corpora lutea is present in ovaries, indicating that ovulation has occurred (PubMed:28867294). Defects during oocyte maturation are probably caused by the deregulation of some transcripts, leading to an arrest prior to or at the two-cell stage, with various cytokinesis defects observed in the two-cell embryos (PubMed:28867294). Males are hypofertile because of mild degenerative changes in the seminiferous tubules, including large scattered vacuoles in Sertoli cells and severe loss of sperm in the cauda epididymis (PubMed:32943573). Conditional deletion in embryos leads to lethality at late embryonic developmental stages, caused by defects in neural development (PubMed:29855337). Conditional deletion in spermatogonia leads to impaired spermatogonial proliferation caused by decreased cell spread (PubMed:31959747). The proliferation and differentiation capabilities of neural stem/progenitor cell (NSPC) decrease significantly in conditional deletion mutant embryos (PubMed:29855337). Conditional deletion in hematopoietic stem cells promotes hematopoietic stem cell expansion (PubMed:30065315, PubMed:30150673). Mice lacking Ythdf1, Ythdf2 and Ythdf3 display early embryonic lethality and show defects in embryonic stem cell differentiation (PubMed:32943573)
No visible phenotype. In contrast, mice lacking both Eya1 and Eya2 display complete embryonic lethality, due to severe defects in muscle development, including the absence of the diaphragm, the absence of ventral hypaxial muscles of the trunk and muscles in forelimbs and hindlimbs, similar to the phenotype of mice lacking both Six1 and Six4. While Six1 is normally expressed in these mice, it does not activate transcription from cognate promoter elements, and does not activate transcription of Pax3
RNAi-mediated knockdown causes an increased sensitivity to stress and inhibits mitophagy which leads to an accumulation of defective mitochondria that have increased mass, altered network morphology, decreased ATP levels, increased reactive oxygen species (ROS) generation, membrane depolarization, increased oxygen consumption and increased cytoplasmic Ca(2+) that intensifies under stress conditions. RNAi-mediated knockdown in daf-2, isp-1, or clk-1 mutant backgrounds suppresses their increased lifespan phenotype
Cells lacking this gene show a complete loss of LM biosynthesis. Mutant results in the formation of a truncated LM with a reduction of alpha-(1->6) and alpha-(1->2) glycosidic linkages
Increased anxiety-like behavior, reduced Crhr2 mRNA levels in the lateral septum, normal basal feeding behavior, and hearing impairment at the level of the inner ear with shorter outer hair cells, higher threshold for auditory stimuli and higher distortion product otoacoustic emissions
RNAi-mediated knockdown in the testes results in a reduced number of paternal mitochondrial nucleoids at the nebenkern stage of spermatogenesis (PubMed:28318978). However, the clearance of nucleoids at the elongation stage of spermatogenesis is unaffected (PubMed:28318978)
Embryonically lethal. Embryos die at about 10 dpc, due to strongly decreased numbers of blood vessel endothelial cells, leading to severe hemorrhaging, and due to defects in heart trabeculae development. Mice display a general malformation of the vascular network with defective sprouting and dilated blood vessels. Conditional by inversion allele knockout mice don't have Schlemm's canal. Haploinsufficient mice developed a severely hypomorphic Schlemm's canal with convolutions and focal narrowing (PubMed:27270174)
Mutant can degrade syringate and vanillate, but not DDVA. It lacks DDVA O demethylation activity (PubMed:10788391). It cannot grow on minimal medium containing DDVA (PubMed:25217011)
Abolishes the expression of FUB1, FUB3 and FUB8, and impairs the production of fusaric acid (PubMed:25372119)
Depletion in ependymal cells by RNAi completely abolishes the central pair microtubules and markedly attenuates ciliary localizations of HYDIN and SPAG6, resulting in rotational beat of the ependymal cilia
Defective in filamentation and invasive growth in response to environmental cues. Defective in the formation of biofilms. Displays decreased virulence in the greater wax moth Galleria mellonella infection model
Leads to an accumulation of autophagic bodies and increases autophagic flux accompanied by increased accumulation of ATG8 mRNA and protein in nutrient-replete conditions (PubMed:26098573)
Flies display defective abdomen pattern formation and are embryonic lethal
Defect in stomatal movment and hypersensitivity to drought stress
The deletion mutant is susceptible to treatment with AMS and shows decreased intracellular iron content after incubation with AMS. In vivo virulence of the mutant is attenuated
Death between days 10 and 11.5 of gestation with defects in the nervous system, heart, vasculature and extraembryonic tissues. Effects are due to severe genome instability and stochastic telomere loss in embryonic stem cells which display many chromosome breaks and fusions upon differentiation in vitro
No visible phenotype (PubMed:21185286). Reduced proportion of the cellular volume devoted to chloroplasts leading to an abnormal chloroplasts distributions (PubMed:26862170). Lower levels of chlorophyll, especially in plants lacking REC1, REC2, REC3 and FMT/CLU (PubMed:26862170)
Null mice exhibit a reduction of more than 95% in serine exchange in testis and approximately 90% reduction in brain and liver. Testis weight is reduced and some animals are infertile. Elimination of either Pss1 or Pss2, but not both, is compatible with mouse viability. Mice can tolerate as little as 10% serine-exchange activity and are viable with small amounts of phosphatidylserine and phosphatidylethanolamine content
Mutant males are normozoospermic infertile (PubMed:35960805, PubMed:36050562). Mutant males neither have significant differences in testis/body weight ratios nor testicular morphology. They do not show any alteration in basic sperm motility (PubMed:35960805). Sperm from mutant males passes through the zona pellucida, but fails to bind to the oocyte membrane and accumulates in the perivitelline space (PubMed:36050562). FREY1 and SPPL2C double knockout mice are normozoospermic infertile (PubMed:35960805)
Early flowering under both long-day and short-day conditions
Mutations appear to be the cause of the matariki (maki) phenotype, characterized by expanded motor neuron domain in the 10.5 dpc neural tube. Motor neurons are increased in number and expand dorsally. Mutants die at the end of gestation, when other phenotypes characteristic of elevated Shh signaling are apparent, including preaxial polydactyly. Knockout mice have defects in developmental patterning and die at birth with severe malformations, including exencephaly and polydactyly
Results in the cardinal features of Bardet-Biedl syndrome in zebrafish, including defects to the ciliated Kupffer's vesicle and delayed retrograde melanosome transport. Isoform 2 defects does not result in Kupffer vesicle or melanosome transport defects, but rather leads to impaired visual function and mislocalization of the photopigment green cone opsin. Isoform 2, but not isoform 1, is sufficient to rescue both the vision defect as well as green opsin localization in the retina
Deletion of vgrG1a shows residual type VI secretion (PubMed:21325275). However, simultaneous deletion of all three vgrG genes (vgrG1a, vgrG1b and vgrG1c) totally abrogates bacterial killing (PubMed:24794869)
Mice, although viable and fertile, exhibit abnormal megakaryocyte proliferation as well as age-dependent behavioral defects. Megakaryocytes display both anti-glycoprotein IIb immunoreactivity and anti-acetylcholinesterase activity
Deficient chloroplast response
Deletion mutant accumulates specific cell wall fragments and shows growth defects under starvation conditions
Deficient mice develop normally during the first 3 months of life under pathogen-free conditions. However, following subcutaneous injection of the carcinogen 3-methylcholanthrene, deficient mice exhibit markedly delayed skin tumor onset and reduced tumor size compared with wild-type mice
Shows defects in invasion of agar medium and attenuated virulence in a murine model of disseminated candidiasis. Leads to hypersensibility to the glucan synthase inhibitor capsofungin and the cell wall disturbing agents Congo red and calcofluor white
Mutants lacking the DEED domain form multinucleated cells
Leads to a drastic reduction of both roquefortine C and meleagrin synthesis (PubMed:22118684). Accumulates high lebels of HTD (PubMed:23776469)
Impaired growth in minimal medium containing acetate as the sole carbon source
No phenotype in rich or minimal medium, decreased growth rate in the presence of excess D-tyrosine (PubMed:10383414). A double dtd-dadA deletion mutant has a more pronounced growth defect in the presence of D-Tyr (in strain K12 / EC989) (PubMed:10383414). In a dtd deletion mutant about 40% of tRNA(Tyr) is D-tyrosyl-tRNA(Tyr); overexpressing the gene for tRNA(Tyr) suppresses the toxicity of D-Tyr by increasing the levels of L-tyrosyl-tRNA(Tyr) available for translation (PubMed:15292242). Decreased growth in the presence of D-Asp, D-Ser, D-Gln and D-Trp (PubMed:10918062). Poor growth on 20 mg/ml D-Tyr, no growth on 500 mg/ml D-Tyr or 20 mg/ml D-Trp (PubMed:25441601). Overexpression of genes for tRNA(Asp) or tRNA(Trp) suppresses the toxicity of their respective D-amino acids (PubMed:15292242). No effect seen when grown in 3 or 10 mM Gly; in a mutant that no longer edits mischarged glycyl-tRNA(Ala) or seryl-tRNA(Ala) (triple mutation in alaS) Gly becomes toxic, but excess Ala restores growth (PubMed:28362257)
Normal constriction of plastids during division, but impaired separation, resulting in plastid clustering. The clumped-chloroplasts mutant phenotype is transient. In juvenile leaves, clustered chloroplasts are observed in almost all cells of the petiole, while in the oldest leaf, the phenotype is mostly absent (PubMed:22025705). Phox1, phox2, phox3 and phox4 quadruple mutants show a 70% reduction in root hair growth (PubMed:28096376)
Strong reduction in RPP7 levels due to altered H3K9me2 levels in COPIA-R7 (PubMed:23940361, PubMed:17253987). Impaired resistance against the Hyaloperonospora arabidopsidis isolate Hiks1 (PubMed:17253987). Abnormal leaf development and flowering time (PubMed:20840782, PubMed:20149132). Enhanced accumulation of FLC (PubMed:23976921). Altered silencing states of several transposons associated with reduced histone methylation at H3K27me1 and H3K9me2 (PubMed:23609044). Hypermethylation of DNA at CHG sites (PubMed:24248388). Reduced fertility (PubMed:23609044). Overproduction of stomatal lineage cells due to increased cell divisions and associated with DNA hypermethylation and silencing of ERECTA receptor genes such as ER, ERL1 and ERL2 (PubMed:27697902)
No visible phenotype (PubMed:25086063, PubMed:25600486). The double mutant hira-1 cabin1-2 has aborted and fewer viable seeds (PubMed:25600486)
Mutants show increased levels of cellular cAMP. In rich medium, mutants exhibit a significantly reduced growth rate compared to wild-type strain
Worms display a reduction in pharyngeal pumping rates, body length and intestine size, as well as a prolonged egg laying period and smaller brood size
Impairs the repression of siderophore biosynthesis and utilization genes in the presence of abundant iron and thus produces siderophores even under iron-replete conditions (PubMed:22117028)
Mutants have an aberrant response to waves of cAMP stimulation
Deletion mutants show a defect in twitching motility while DNA uptake seems not affected
Precocious senescence and lowered abiotic stress tolerance
Severe dendrite pruning defects in ddaC neurons at 16 hours after puparium formation (APF) and axon pruning defects in mushroom body gamma neurons at 24 hours APF. RNAi-mediated knockdown results in a significant increase in Akt1 protein levels and activity in ddaC somas (PubMed:24068890). In the larval brain there is a large increase in the number of neuroblasts, 40% of which show a spindle misorientation at metaphase (PubMed:24413555). RNAi-mediated knockdown results in apical detachment of scolopidial cells in Johnston's organ (PubMed:27331610)
RNAi-mediated knockdown delays the first appearance of synaptobrevin snb-1 at puncta, probably corresponding to neuromuscular junctions, in dorsal D (DD) motor neurons in L1 stage larvae by about 4 hours (PubMed:22031882). Causes ectopic expression of immunoglobulin domain-containing protein oig-1 in late larval and adult DD motor neurons (PubMed:26387713). Causes a significant increase in expression of snb-1 at puncta in the ventral nerve cord on an unc-55 mutant background (PubMed:22031882). Ectopically expressed in ventral D (VD) motor neurons on an unc-55 mutant background (PubMed:22031882). Restores normal backward locomotion on an unc-55 mutant background (PubMed:22031882). Knockdown targeted to GABAergic neurons restores normal synaptic function in the ventral muscles on an unc-55 mutant background (PubMed:22031882). Restores expression of oig-1 to VD motor neurons on an unc-55 mutant background (PubMed:26387713). Targeted RNAi-mediated knockdown abolishes expression of unc-8 in DD neurons (PubMed:34045310)
Morpholino knockdown of the gene results in a smaller body size due to decreased cell proliferation. There is evidence of a delay in mitotic progression with impaired centriole duplication and impaired spindle formation. Mutant has a variable reduction in eye size and impaired responses to visual stimuli associated with a loss of cells containing cilia and an absence of basal bodies in the photoreceptor layer. Knockdown mutant animals also show a ciliary phenotype, with hydrocephalus, renal cysts, ventral curvature, and left-right asymmetry defects
Very slight sensitivity to ciprofloxacin (CFX), UV and azidothymidine (AZT) in single deletion mutants, but a radA-recG deletion is extremely sensitive to CFX and AZT, less so to UV (PubMed:12446634, PubMed:25484163). The SOS response is induced in this double mutant, indicating spontaneous DNA damage. AZT sensitivity is suppressed by further recA or recF deletions, suggesting AZT-induced DNA gaps are processed into lethal intermediates in a RecA-dependent fashion mediated by RecF (PubMed:25484163)
Cells lacking this gene are unable to grow on propane and to catalyze the oxidation of phenol to yield hydroquinone
Conditional knockout in B cells results in significant reduction in the number of mature follicular B cells with normal cellular proliferation but increased cellular turnover
The deletion mutant contains 30% less cPHB in the outer membrane than the wild-type strain (PubMed:18640095). Natural transformation rate of the mutant is reduced by 2.7-6.7 folds. Mutant is also defective in chemical transformation (PubMed:26826386)
RNAi-mediated knockdown causes an increase in ectopic formation of membrane extensions from body wall muscles and a reduction in life span caused by early stage mortality (PubMed:16495308, PubMed:16547100). Prevents constitutive dauer formation in a daf-2 e1370 mutant background (PubMed:16547100)
Mice die before birth and show early postimplantation developmental defect. Display reduced embryonic stem cells (ESCs) proliferation and self-renewal capacity. Show altered transcription of naive pluripotency and self-renewal modulator genes
Transcriptional silencing of this gene leads to growth attenuation and results in a bactericidal phenotype in vitro and in vivo, whether initiated at infection or during either the acute or chronic stages of infection
Cells lacking this gene show an impaired nodulation efficiency as compared to that of the wild-type strain GR4
Loss of beta-2 adrenergic receptor/ADRB2 ubiquitination. Reduction of dopamine-dependent behaviors, loss of Akt1 regulation by dopamine in the striatum and disruption of the dopamine-dependent interaction of Akt1 with its negative regulator, protein phosphatase 2A. Increased serum LDL-cholesterol levels upon high fat diet. Exacerbates insulin resistance. Elevated cytotoxicity of natural killer cells and lowered susceptibility to mouse cytomegalovirus infection
Loss-of-function in embryos causes arrest of karyokinesis progression
Morpholino knockdown alters craniofacial cartilage development
No significant differences in the growth kinetics of cells grown in medium containing high or low concentrations of sulfate
Hyperplasia of the imaginal disk resulting in wing overgrowth (PubMed:8269855). This overgrowth is limited to specific regions along the 2 wing axes (PubMed:8269855). Defects also in eyes, head, thorax and limbs where duplication and bulging often occur (PubMed:8269855). RNAi-mediated knockdown reduces the amount of Schip1 in the apical region of the cell
Mutants display multiple bioenergetic dysfunctional phenotypes, including growth retardation, cold intolerance, reduced exercise endurance, greatly increased mortality from cardiac stress after transverse aortic constriction, abnormal mitochondrial function with a 65% decrease in ascorbate-induced Complex IV-mediated oxygen consumption, and a reduction in myocardial cardiolipin content accompanied by an altered cardiolipin molecular species composition. Myocardium of mutant mice contain more oxidized cardiolipin (PubMed:28442572)
Reduced growth, pale or yellow leaves, frequent enations and pollen defect resulting in sterility. Enhanced susceptibility to bacterial infection
Impaired phosphate (Pi) starvation induction of lateral roots formation (PubMed:26476189). Abnormal structures of arbuscular mycorrhiza (AM) fungi (e.g. Gigaspora margarita and Funnelliformis mosseae) during AM symbiosis with swollen main arbuscule trunks and reduced branching (PubMed:26476189). Lower symbiotic Pi transfer for AM fungi to the host plant (PubMed:26476189)
Deletion of hha and tomB, in the presence of a conjugative plasmid (R1drd19), decreases biofilm formation, cell aggregation and increases motility via flagella and motility gene expression
Cells are more sensitive to UV and MMS, and have no detectable recombinase activity. They are still able to generate phase variants, as do wild-type cells, and surprisingly do so at a 10-fold greater rate. Phase variants irreversibly lose the ability to swim, and undergo changes in their sugar assimilation profile
Elevated levels of free trihydroxy sphingoid bases as well as ceramide and glucosylceramide species with C(16) fatty acid, but reduced levels of species with C(20) to C(28) fatty acids (PubMed:21883234, PubMed:25822663). Spontaneous cell death accompanied by an enhanced PR1 expression at advanced age (PubMed:21883234). The double mutant loh1 loh3 is embryonically lethal (PubMed:21883234, PubMed:21666002). Rare viable loh1 loh3 seedlings have a complete absence of very-long-chain fatty acid (VLCFA) in sphingolipids and exhibit strong dwarf phenotype and altered lateral root outgrowth associated with disrupted early endosomes and an impaired polar auxin transport due to abnormal localization of auxin transporters in the plasma membrane; these phenotypes are in part restored by external auxin (NAA) (PubMed:21666002). Better resistance to submergence under light conditions, but increased sensitivity to dark submergence associated with declined levels of unsaturated very-long-chain (VLC) ceramide species (22:1, 24:1 and 26:1) (PubMed:25822663). The double mutant loh1 loh3, lacking (VLC), have an impaired tolerance to both dark and light submergences (PubMed:25822663)
Deletion of the gene leads to accumulation of beta-carotene
No visible phenotype under normal growth conditions, but mutant plants have reduced content of the flower polyesters 16-hydroxypalmitate, 10,16-dihydroxypalmitate and 1,16-hexadecanedioate
Bacteria no longer translocate from the phagolysosome to the cytosol of host (human) cells probably due to polar effects on the downstream esxA gene; bacteria replicate in phagolysosome, decreased apoptosis of infected host (human) dendritic cells (PubMed:17604718). Loss of ability to lyse host (human) lung epithelial cells, possibly due to polar effects on the downstream esxA gene; in BALB/c-infected mice bacteria are not as invasive and cause decreased lung disease (PubMed:14557547). No growth in the human macrophage-like cell line THP-1, no cytotoxicity (PubMed:14756778). Inactivation leads to absence of EsxA and EsxB from cell lysates (PubMed:14756778, PubMed:16368961). No secretion of EspA (PubMed:16030141)
In the absence of nitrogen source, cells lacking this gene do not show degradation of TnrA, which is entirely soluble
Altered expression of a significant number of genes; expression of an R27-plasmid encoded hns (AC Q9L5H8) restores wild-type expression to only a subset of these genes
Normal growth and photosynthesis in normal conditions (PubMed:17573537). Intact NDH complex, but altered NDH-dependent chlorophyll fluorescence increase after turning off actinic light and lower capacity for nonphotochemical quenching in high light intensities, due to altered nonphotochemical reduction of the plastoquinone (PQ) (PubMed:17573537). Increased sensitivity to photoinhibition and long-term mild heat stress (PubMed:17573537)
Embryonic lethal (PubMed:27621227). Knockout mice do not develop past 18.5 days post coitum and exhibit smaller sized eyes with neural-tube defects (PubMed:27621227). Heterozygous mice exhibit decreased expression and delayed development (PubMed:27621227). Heterozygous mice grow slower, weigh less than wild-type mice and have significantly reduced brain weight (PubMed:27621227). They also exhibit lowered levels of PBX1 and HOXB8 (PubMed:27621227). Mice also exhibit anxiety-like behaviors with excessive grooming, resulting in gradual hair loss (PubMed:27621227)
Mutants have only 40% of the wild-type lysozyme activity and initially form plaques on bacterial lawns that are only half the size of wild type plaques. Despite the lysozyme activity remaining constantly at 40% of wild-type, the efficiency of plaque formation gradually increases over several weeks repeated plating until the size of mutant plaques finally exceeds that of wild-type cells by almost 2-fold
Mutants accumulate delta3-dehydroadipate and are unable to use phenylacetate as a carbon source
Reproductive defects
No visible loss of Golgi stacking in intestinal tissue at postnatal day 10, 21 or 42, in combination with conditional knockout of GORASP2/GRASP55 (PubMed:32573693). However, cisternal cross-sectional diameters are reduced and rims of the Golgi cisternae are vacuolated (PubMed:32573693). Abolishes expression of GOLGA2/GM130 in the cisternae (PubMed:32573693)
Leads to drastically reduced, but still detectable production of dothistromin (PubMed:23207690)
Albino plants with defective chloroplasts containing a few appressed membranes but lacking thylakoids, even when grown under normal light conditions. Reduced plastid-encoded RNA polymerase (PEP) activity
Slightly delayed seed germination
Mice develop cataracts and glaucoma and males are sterile. Within 4 weeks of birth, mice develop a posterior cataract that becomes severe with age. At later stages, the lens fiber cell compartment develops vacuoles with lens capsule rupture and extrusion of fiber cell mass into the vitreous. In addition, the mass of fiber cells passes through the pupil into the anterior chamber of the eye. By 4 months of age, iris flattening is detected and anterior chamber depth increased. By 6 months of age, the intraocular pressure (IOP) is elevated in some mutants, and the incidence of elevated IOP increases with age, leading to glaucome. Severe optic nerve atrophy characterized by retinal ganglion cell axon loss and excavative remodeling of the optic nerve are observed. In addition, males display sterility due to an arrest in spermatogenesis at the round spermatid stage, likely due to a chromatoid body defect
Mutants contain extra cells in the head owing to decreased levels of cell death and show a pronounced defect in the morphogenetic movements of head involution (PubMed:7622034). Ectopic expression in the retina results in complete eye ablation (PubMed:7622034). Reduces levels of caspace-3 after exposure to ionizing radiation (PubMed:22964637). Simultaneous knockout of hid and Clbn/NEMF has a similar response to single mutants after exposure to ionizing radiation (PubMed:22964637)
Ciliopathy phenotypes: appearance of 3 otoliths, kidney cysts and dilated kidney tubules at 2.5 days post-fertilization (dpf). Motile cilia in the kidney show disorganized cilia bundles with either severely reduced beat amplitude or paralysis. Olfactory motile cilia are nearly completely paralyzed
Deletion leads to changes in cell morphology and to the formation of bulges that contain cytoplasmic material and cause cell lysis. Mutants exhibit increased sensitivity to rifampicin and novobiocin, and to a mixture of SDS and EDTA. Growth is severely affected by osmolarity and temperature (PubMed:24187084). Mutant accumulates precursor forms of LPS and exhibits elevated levels of LpxC (PubMed:24722986)
RNAi-mediated knockdown causes lifespan extension
Significant increase in the ability to colonize the small intestine compared to the wild-type strain. No defect in biofilm formation. Enforced DncV expression in mutant cells lacking this gene causes an enhanced inhibition of chemotaxis. The double mutant lacking both VC_A0681 and VC_A0931 shows enhanced bacterial infectivity, and the triple one (VC_A0681, VC_A0210 and VC_A0931) has the highest infectivity, which demonstrates that V-cGAPs play non-redundant roles in cGAMP degradation
Mice are viable but show profound defect in synapsis of homologous chromosomes in male meiosis, piRNA production defects, DNA demethylation of LINE-1 (L1) transposable elements and a 100-fold increase in L1 expression in the adult testis. In the adult testes, L1 transposon derepression occurs at the onset of meiosis. As a result, spermatocytes are flooded with L1 ribonucleoproteins (RNPs) that accumulates in large cytoplasmic enclaves and nuclei. Spermatocytes with nuclear L1 RNPs exhibit massive DNA damage and severe chromosome asynapsis. In gonocytes, PIWIL4, TDRD9, and DDX4 are lost from piP-bodies, whereas no effects on pi-body composition are observed
Mutants accumulate 3-hydroxyadipate and are unable to use phenylacetate as a carbon source
Defective in proplastid and plastid division, with only one or two grossly enlarged plastids per cell, sometimes exhibiting alteration in stromule length and frequency in non-green tissues (e.g. increase in the frequency of stromules in nearly all cells) and in stomatal guard cells (GCs) (PubMed:29466386). Heterogeneous chloroplasts sizes and shapes such as giant and mini-plastids in leaf epidermal pavement cells (PCs) (PubMed:29466386). Abnormal subplastidial localization of the key plastid division proteins FTSZ1 and FTSZ2 (numerous short and disorganized FtsZ filament fragments) (PubMed:29967285). Root cells statoliths, chloroplasts, and other plastids are also abnormally large. Impaired gravitropism of inflorescence stems and hypocotyls, but not of roots. Several mesophyll and stomatal guard cells contain chlorophyll-free plastids, probably missing chloroplastic DNA. Misexpression and mislocalization of ADT2 (PubMed:30252596). The double mutant mcd1 arc6 exhibits similar chloroplast defect than the single mutant arc6, including the abnormal localization of FTSZ1 to short filaments and dots within chloroplasts (PubMed:29967285). The double mutant arc6 cjd1 exhibits both phenotypes of single mutants cjd1 and arc6 including altered fatty acid profiles and heterogeneous chloroplasts sizes and shapes, respectively (PubMed:22028775)
Abnormal punctate localization of TOR1 (PubMed:32801125). Sensitive to high hydrostatic pressure (PubMed:32801125). Resistance to tunicamycin (endoplasmic reticulum stressor) administered together with FK506 (calcineurin inhibitor) (PubMed:26510498). Sensitive to rapamycin (TORC1 signaling-inhibitor) (PubMed:28993463). Simultaneous disruption of GTR1 results in abnormal localization of TOR1 and PIB2 to vacuoles and abnormal activation of TORC1 in nitrogen-replete conditions (glutamine or leucine nitrogen source) (PubMed:28993463)
Impaired expression of beta-mannose epitopes and decreases alpha-mannosidase resistant glycans
Disruption of the gene abolishes production of candicidin
25-fold increased sensitivity to acrylate, growth is strongly inhibited by 20 mM dimethylsulfonioproprionate (DMSP)
Confers low-level streptomycin resistance and a greater ability to produce the antibiotic actinorhodin
Stunted growth, pale-green leaves, altered plastid structures in leaves, altered photosynthesis activity, and reduced accumulation of starch in leaf chloroplasts
Defective in biofilm formation
Mice display decreased mature thymocytes and elicit profound defect in CD4+ and CD8+ T-cell development (PubMed:8777721, PubMed:10213685, PubMed:16860760, PubMed:21036902). Additionally, they show a strong decrease of cytokine production in response to TCR receptor stimulation (PubMed:21036902). Impaired TCR-mediated calcium response in gamma-delta T-cells (PubMed:23562159). Loss of Vgamma2-positive immature thymocyte-specific transcriptomic profile, although there is no change to overall transcription factor expression levels (PubMed:23562159). Not required for the generation of IL17A expressing gamma-delta T-cells (PubMed:23562159)
Altered root epidermis morphology and root hair patterning
Deletion of the gene leads to a reduced intracellular growth in the protozoa A.castellanii and decreased levels of effector translocation (PubMed:32513920). Deletion of dotZ results in the absence of both DotY and DotZ proteins in the coupling complex (PubMed:34816517). Deletion mutant shows significantly reduced DotL polar localization (PubMed:34816517)
Reduced colonization of mice in single infections and reduced colonic hyperplasia
Mutants synergistically exhibit progressive myopathy. In dyb-1 and hlh-1 double mutants, there is an uncoordinated phenotype associated with some muscle degeneration. Overexpression of dyb-1 in dys-1 and hlh-1 double mutants delays, but does not prevent the onset and progression of myopathy
Deficient mice show postnatal growth retardation secondary to severe structural abnormalities of the stomach, duodenum, jejunum and decreased intestinal uptake of D-glucose and levels of the intestinal D-glucose transporter Slc5a1
Pupal lethal; large percentage fail to enclose (PubMed:15073152). Escapers that develop into adults display various phenotypes that appear to be the result of mitochondrial abnormalities and/or mitochondrial dysfunction (PubMed:16672980, PubMed:24192653, PubMed:23509287, PubMed:29497364). In various tissues including the indirect flight muscles (IFM), thoracic muscles, sperm, cardiomyocytes and neurons such as the dopaminergic (DA) neurons, mitochondria display abnormalities such as swelling, loss of cristae, fragmentation, aggregation and/or mitochondrial disorganization, and they are dysfunctional resulting in defects such as mitochondrial depolarization, increased reactive oxygen species (ROS) production, reduced ATP, decreased mitochondrial DNA and reduced mitochondrial protein levels (PubMed:15073152, PubMed:17123504, PubMed:18957282, PubMed:18799731, PubMed:20483372, PubMed:24192653, PubMed:24901221, PubMed:29497364). As a result adults are reduced in size, display reduced survival and decreased fertility (PubMed:15073152, PubMed:16672980, PubMed:17123504, PubMed:24192653, PubMed:24901221, PubMed:29497364). They also exhibit age-dependent and progressive degradation of the IFM and the DA neurons, especially in the protocerebral posterior lateral 1 (PPL1) cluster, which likely contribute to the observed locomotive defects, down-turned rigid wings and crushed thorax phenotypes (PubMed:15073152, PubMed:16002472, PubMed:18957282, PubMed:18799731, PubMed:24901221, PubMed:29497364). However, another report did not observe any age-dependent dopaminergic neuron loss within 21 days post-eclosion (PubMed:15073152). Also affects non-motor behaviors such as reduced three-hour memory performance and irregular circadian rhythms under constant darkness, likely as a result of the neurodegradation (PubMed:28435104). Double knockout of Pink1 and park display no increase in the severity of their phenotypes compared to single mutants (PubMed:16672980). However, expression of park in Pink1 mutants markedly rescues most of the Pink1 mutant phenotypes, whereas expression of Pink1 in park mutants fails to rescue the defective thorax and abnormal wing position (PubMed:16672980). Double knockdown with Paris, improves climbing performance defects and rescues decreased mRNA levels of srl, ewg and TFAM, observed in park mutants (PubMed:32138754)
Conditional knockout mice lacking fgf13 in the cerebral cortex or mice lacking fgf13 in most tissues display similar phenotypes of impaired spatial acquisition and memory. The cued memory and the capacity of novel object recognition are altered. They also display anxiety-related and reduced depression-like behaviors. This is associated with a disorganization of cortical structure and neural circuits. The laminar formation of the neocortex is delayed and the hippocampal development is also affected
Reduced overall movement, decreased initiation of swim and turn movements and decreased mean body curvature change per swim half-cycle and mean number of swim half-cycles per swim (PubMed:29061699). At 2 and 4 dpf, decreased axonal branches and at 4 dpf, decreased dendrites in motor neurons (PubMed:29061699). Defects on motor neuron extensions persist at 26 dph (PubMed:29061699). Decreased GAP43 mRNA levels (PubMed:29061699)
Deletion of Tsi2 is lethal in the presence of Tse2
Cells lacking tcdB display virulence and cytotoxicity, because of the presence of TcdA (PubMed:20844489). Cells lacking both tcdA and tcdB display a strongly reduced virulence (PubMed:20844489)
Multiorgan inflammation, splenomegaly and premature death. Mice are hypersensitive to septic shock
Reduced root growth. Slight reduction of chlorophyll content. Wrinkled seed coat. Hypersensitivity to ammonium
Decreases SKT5 farnesylation
Abnormal and almost sterile florets. Mosaic organs and disturbed identities of palea and lodicule. Extra carpels or spikelets
No visible phenotype except stronger photoinhibition when grown in the field (PubMed:26947269, PubMed:31201341). Slightly reduced proton gradient (delta-pH) but increased electric potential (delta-Psi) across the thylakoid membrane leading to moderately elevated proton motive force (PMF) (PubMed:26947269, PubMed:27216227). Transiently decreased non-photochemical quenching (NPQ) during the dark-to-light transition (PubMed:26947269, PubMed:27216227, PubMed:31201341). Slower NPQ induction on transition from low to high light (PubMed:31201341). Wider thylakoid lumen thickness, loosely stacked grana and disorganized stroma thylakoid system (PubMed:26947269). The atbest1-1 atbest2-1 double mutant has a reduced non-photochemical quenching (NPQ) during the dark-to-light transition similarly to the atbest1-1 single mutant (PubMed:26947269). Lower photosynthetic performance in dark-adapted clce vccn1 double mutant, as well as in the clce kea3 vccn1 triple mutant (PubMed:31201341). Altered NPQ upon transition from dark to low light in clce vccn1 and kea3 vccn1 double mutants and in the clce kea3 vccn1 triple mutant (PubMed:31201341)
When this gene is missing the Gabija type I system does not confer resistance to SpBeta in B.subtilis (PubMed:29371424). When this gene is missing the Gabija type I system does not confer resistance to T7 in E.coli (PubMed:33885789)
Deletion of both hybG and hypC completely abolishes hydrogenase activity
Embryonic lethality between the apical 2-cell and the 4-terminal-cell embryo stage (PubMed:18344283, PubMed:20931334). Impaired in pollen germination and pollen tube growth (PubMed:18344283)
Mutant is more sensitive to copper (PubMed:23772064, PubMed:24549843). Deletion does not affect virulence in mice (PubMed:24549843)
Without spl-1 expression, animals become bloated, pale, congested with eggs and hatched larvae, and demonstrate shrunken gut and gonadal structures
Required for normal germline maturation and for viability. Viable at 20 degrees Celsius. At a higher temperature (25 degrees Celsius), the hatched eggs progress through the L1-L4 larval stages with kinetics similar to those of wild type but present an important delay in germline maturation. Whereas gravid wild-type worms are present 53 hours after hatching, germline maturation are still ongoing in the mutant after 66 hours, and the first adults containing eggs are observed 75 hours after hatching, when a large number of new L1 are already present in the wild type. Strikingly, the eggs that finally appeared in the mutant display aberrant morphology and size resulting in both low progeny and high mortality
Reduced rosette size and early flowering. Reduced length of the main root and reduced number of lateral roots
Cells lacking this gene loss their ability to grow on t4LHyp as a sole carbon source
A null mutation abolishes the ability of a proline auxotroph to grow in a medium containing the dipeptide Pro-Gly as sole proline source
Mice display balance defects, a tilted position of the head and abnormal performances in motor coordination tests. This is associated with the absence of otoconia in both the utricle and saccule of the inner ear
Homozygous lethal at the first instar larval stage. Larvae are smaller than wild-type and die 3-4 days after hatching
Decreases the interaction between rad24 and cdc25 (PubMed:15629716). Small cells at septation (PubMed:15629716). Sensitive to osmotic stress (PubMed:15629716)
Heterozygous mice are viable and fertile, but homozygous mice display nearly complete embryonic lethality. Most embryos die at about 12.5 dpc, probably due to impaired expansion of the ventricular myocardium during development, reduced endocardial volume and heart insufficiency. Contrary to wild-type, the epicardium appears ruffled and presents numerous holes, due to defective formation of cell-cell adhesions. Still, there is a very small percentage of life-born pups that survive at least up to weaning
Increased resistance to endotoxic shock and severe defects in caspase-1 activation and interleukin-1 beta and interleukin-18 production in macrophages in response to several pro-inflammatory molecules (PubMed:15190255, PubMed:15507117). Mutants are resitant to vaccinia virus (VACV) but not vesicular somatitis virus (VSV) infection. They show lower viral loads in the lungs compared to wild type mice, they produce higher levels of type I IFN, IL6 and RSAD2/Viperin after VCAV INFECTION (PubMed:28314590)
Cells lacking CheV are somewhat reduced in chemotactic proficiency, but a double mutant lacking both CheV and CheW has a strong tumble bias, does not respond to addition of attractant, shows essentially no accumulation in capillary assays, and has greatly reduced methyl turnover on the methyl-accepting chemotaxis proteins (MCPs)
Shrunken seeds with unmature embryos
Reduced levels of arabinogalactan proteins. Root hair defects. Reduced seed coat mucilage. Increased sensitivity to salt stress
No chromogen 5-bromo-4-chloro-3-indolyl-beta-D-galactopyranoside (X-Gal) hydrolyzation. Reduces beta-galactosidase activity observed with polygalacturonic acid, citrus and apple pectins, galactan and soy flour
Leads to reduced growth rate and altered ROS generation during stress conditions like heat or treatment by hydroxyurea
Mice undergo normal embryonic development, but fail to feed and die within the first 2 postnatal days. Heterozygous mice survive to adulthood with no evident metabolic or growth defects. At 12-15 months of age, heterozygous mice show motor dysfunction associated with histopathologic evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons
Shorter and compacted dendritic endings of the amphid and phasmid neurons with an abnormal distribution of the intraflagellar transport protein osm-6 along these ciliated endings (PubMed:16648645). Defective chemotaxis with 78% of mutants exhibiting reduced tracking to the chemoattractant ammonium chloride (PubMed:7705621)
Hypersensitivity to latrunculin B1 (LatB) and cytochalasin, reduced primary root length and root hair growth defects
Grows on defined Evans agar supplemented with ammonium chloride as a sole nitrogen source. However, double deletion mutant glnA/glnII is not able to grow on this medium and is auxotrophic for glutamine, indicating that both encode glutamine synthetases
Reduced abscisic acid (ABA) sensitivity during seed germination
Reduced primary root elongation
Larvae and adults display defects in starvation-induced, developmental and physiological autophagy, which result in the accumulation of autophagosomes, autolysosomes, and increased Atg8a expression (PubMed:26086452). Adults display reduced locomotion and decreased life span, likely due to the dysregulation of autophagy which results in the accumulation of ubiquitinated proteins and dysfunctional mitochondria in neuronal and muscle tissues (PubMed:26086452). TORC1 signaling is also inhibited, possibly to compensate for the loss of autophagy (PubMed:26086452)
Reduced expression of genes involved in the biosynthesis of precursors from the shikimate pathway (e.g. PAL1, DAHPS, EPSPS, CCoAOMT1 and CM) thus leading to a lower accumulation of volatile benzenoids but seems to not affect the production of anthocyanins implicated in flower color (PubMed:15805488, PubMed:26620524). Increased levels of EOBI (PubMed:23275577)
Defects in both translation efficiency and fidelity
RNAi-mediated knockdown impairs habituation learning
Mice lacking isoform 1 develop normally to adulthood, are fertile, and do not exhibit obvious morphological or behavioral abnormalities
No effect on SCL33 alternative splicing
Leads 28% reduction in the vegetative growth rate but does not affect conidiation (PubMed:26527167). Leads also to significantly reduced lesion development on tomato leaves (PubMed:26527167)
66% do not survive embryogenesis when cultured in hypoxic conditions of 1% oxygen. Able to survive anoxic conditions (PubMed:11427734, PubMed:12006646). Inefficient translocation of aha-1 to the nucleus (PubMed:11427734). Inability to acclimate to heat (PubMed:12686697). Partial resistance to paralysis and killing by enteropathogenic E.coli and P.aeruginosa (PubMed:16091039, PubMed:20865124). Extends lifespan in a temperature dependent manner but not when grown with a restricted diet (PubMed:19461873, PubMed:21093262). At lower temperatures impairs lifespan because of a vulval integrity defect (PubMed:21241450). Unable to survive in even relatively low concentrations of hydrogen sulfide (PubMed:19889840). Reduced body levels of Mn(2+) and iron (PubMed:22194696). In low iron conditions, only 20% of animals reach the L4 larval stage (PubMed:22194696). RNAi-mediated knockdown causes an increase in ftn-1 and ftn-2 mRNA levels in normal conditions and prevents the repression of smf-3, ftn-1 and to a lesser extent ftn-2 mRNA transcription in response to low iron levels (PubMed:22194696)
Plants display minimal right-handed slanting in roots, reduced gravitropic response, reduced number of lateral roots, reduced size of shoot and root in the seedlings and increased resistance to 2,4-D
Dramatic growth retardation
Late flowering phenotype (PubMed:22592791) and reduction of DNA methylation at RNA-directed DNA methylation (RdDM) target loci (PubMed:19915591, PubMed:20059743, PubMed:22810086, PubMed:22570638, PubMed:22592791)
Mice are viable and fertile but display a significant reduction of body weight, primarily through the loss of fat mass and increase in basal metabolic rate with browning of white adipose tissue
Fishes display defects in the ear, pharyngeal arches and associated structures such as the thymus
RNAi-mediated knockdown at the L1 or L4 larval stages causes a defect in egg-laying
Embryonic lethal (manifesting between 11.5 dpc and 13.5 dpc). Multiple developmental defects (exencephaly, situs viscerum inversus, delay in turning, hemorrhage and defects in limb development). In the node, primary cilia are absent or malformed in homozygous mutant and heterozygous embryos, respectively. The Shh signaling pathway is impaired in both neural tube patterning (expansion of motoneurons and rostro-caudal level-dependent contraction or expansion of the dorso-lateral interneurons) and limb patterning (ectrosyndactyly). The proteolytic processing of Gli3 is altered. Defects in Ift122 are the cause of the sister of open brain (sopb) phenotype, a mutant that induces embryonic lethality and generates primary cilia with features of defective retrograde intraflagellar transport
Infection with phage DSM3 inhibits biofilm formation; disrupting this gene restores biofilm formation upon infection with DMS3 infection. Normal biofilm formation in the absence of phage infection. Decreased production of crRNA in the presence or absence of phage. Disruption of the entire Y.pestis-subtype CRISPR region disrupts crRNA production but does not alter phage resistance (possibly OLNs PA14_33350 to PA14_33310, plus the flanking CRISPR loci), indicating this CRISPR is not involved in phage resistance
Impairs the synthesis of austinol and dehydroaustinol and accumulates (5'R)-isoaustinone (PubMed:22329759)
Viable, and not temperature sensitive. Triple knockout with pgl-1 and pgl-3 results in 58% of progeny arresting as late embryos and 5% as larvae at 26 degrees Celsius
Reduced uptake of amino acids Glu, Asp, Ala, Leu, Ile and Val by bacteroids that lack this gene and the genes braC and braC3 or braE and braF from another ABC uptake system of branched-chain amino acids. Pea plants inoculated with bacteroids of either triple mutant are defective in symbiosis; the plants are yellow, have increased numbers of small pale pink root nodules, dry weights similar to uninoculated control plants and 30% acetylene reduction compared to plants inoculated with wild-type bacteroids. AapJ/braE/braF triple mutant bacteroids are smaller, have reduced bacteroid protein and cell number per plant compared to wild-type, and have a lower chromosome number of 5 compared with 8 of the wild-type
Mutant is defective in the incorporation of O-acetyl groups into both ECA(CYC) and ECA(PG)
Growth of a mutant strain lacking this gene in the presence of both acetylcadaverine and acetylputrescine is comparable to growth of the wild-type. The deletion mutant strain shows a 25% increase in biofilm biomass after 24 hours of incubation compared to wild-type cells
No visible phenotype under normal growth conditions, but mutant seedlings exhibit decreased sensitivity to abscisic acid (ABA) inhibition of seed germination, cotyledon greening, seedling growth, and stomatal movement. Decreased tolerance to drought stress
Cells lacking this gene are about twice as long as those of the wild-type strain
Increased lifespan, retarded growth and development (PubMed:17276341). Increased survival rate upon P.aeruginosa infection (PubMed:24448648)
Deletion of the gene results in differential expression of approximately 70 genes in response to ethanol stress compared with the wild-type strain
Mice display impaired clathrin assembly and clathrin-mediated endocytosis. Transgenic mice with up-regulated forebrain expression of Caly display a range of abnormal behaviors including spontaneous hyperactivity, reduced anxiety and/or impaired harm avoidance
No detectable TG under hypoxic growth conditions, or when grown at pH 5.0. However, about 30% of normal levels of TG accumulated when grown in the presence of NO but there was virtually no C(26:0) TG produced
Development is arrested at the end of the first instar larval stage (PubMed:30293839). RNAi-mediated knockdown blocks ecdysone-dependent fat body cell migration into the pupal head (PubMed:30293839). In the fat body, results in defective ecdysone signaling (PubMed:30293839)
Leads to the accumulation of pyranonigrin I
Viable and fertile, with no gross abnormalities. Development of natural killer (NK) cells appears to be normal. Cytolytic activity of activated NK cells against allogeneic target cells is significantly reduced
Mutant larvae exhibit hypersensitivity to the anticancer drug cisplatin
Plants have a reduced capacity for carbon fixation and prevent the association of LFNR2 with the thylakoid membrane
Overall loss in complex colony architecture and lack of fruiting body-like structures
Defect in transmission of mutated alleles through the male gametophyte (e.g. pollen) (PubMed:25122154). Pollen rescued mutants show severe dwarfism with reduced roots, compromised pollen tube guidance, and constitutive activation of salicyclic acid-mediated defense pathways. They have also an altered sphingolipidome with reduced glycosyl inositol phosphorylceramides (GIPCs), increased ceramides, and an increased incorporation of short-chain fatty acids and dihydroxylated bases into inositol phosphorylceramides and GIPCs (PubMed:27643972)
AcaA and pkaR double mutant shows no abolition of the ability to sporulate
Grows slowly and is smaller than wild-type; estimated to be about 50% of the volume of wild-type cells
Death shortly after birth. Mice lack thymus, parathyroid glands, ultimobranchial bodies and teeth. They show craniofacial and visceral malformations as well as malformations of their distal limbs
Reduced resistance to Pseudomonas syringae expressing HopZ1a (PubMed:26355215). The double mutant zed1-6 zrk12-1 exhibits short inflorescence stem and autoimmunity symptoms when grown at 25 degrees Celsius (PubMed:28499073)
Embryonic lethality at about 9 dpc, due to defects in the formation and organization of the vascular network (PubMed:7596436, PubMed:9689083). Mice display abnormal blood island structures in the yolk sac, leading to defects in the organization of the vascular endothelium, excess growth and disorganization of embryonic and extraembryonic vasculature, including the endocardium and the microvasculature (PubMed:7596436). Reduced vascular sprout formation and migration (PubMed:14982871). Loss of retinal hyaloid vessel regression from postnatal day 3 (P3) to P8 (PubMed:30936473). Mice expressing a mutant protein that lacks the kinase domain survive and have no apparent phenotype (PubMed:9689083)
No visible phenotype; due to the redundancy with RGLG2 (PubMed:17586653, PubMed:22095047). Rglg1 and rglg2 double mutants show a complete loss of apical dominance (PubMed:17586653). The double mutant seedlings rglg1 and rglg2 exhibit a dehydration-tolerant phenotype (PubMed:22095047)
Abolishes the production of pyranterreone 4, but accumulates pyranterreone 3
Mutants show inhibition of cell division, formation of long, nonseptate filaments, ultimate cessation of growth and lysis
Worms exhibit a larval lethal phenotype, survivors show a rolling phenotype in adults, a locomotive defect
Abolishes the production of pseurotin but leads to the accumulation of demethyl-deepoxy-synerazol (PubMed:24082142, PubMed:24939566)
Mice show progressive hepatomegaly with a 2-fold increase in liver mass relative to total body mass at 1 month of age and a 3-fold increase by 3 months of age. Embryos display unchecked proliferation and defects in terminal differentiation of epithelial cells
dsRNA causes reduced expression, alters parasite growth and trophozoite to schizont transition during the erythrocytic cycle
Reduced number of constricted and large chloroplasts (PubMed:16998069, PubMed:18812496). Attenuated PDV2-induced ARC6 dimerization in the chloroplast intermembrane space leading to an abnormal morphology of ARC6 rings thus compromizing plastidial division (PubMed:28248291). Altered localization of ARC5/DRP5B in cytosol only rather than at the constriction sites of enlarged chloroplasts (PubMed:32005784). In pd116, reduced number of dumbbell-shaped and large chloroplasts in mesophyll cells, with sometimes unique giant chloroplasts (PubMed:27988788)
Impairs the production of trypacidin and pathway intermediates including questin (PubMed:26278536, PubMed:26242966)
Significantly decreases interleukin-6 (Il6) production in a Tlr2-dependent fashion by C57BL/6 mouse BMDM
No visible phenotype, but accelerated hypersensitive response (HR). Bap1 and bap2 double mutant is seedling lethal
RNAi-mediated knockdown positively modulates lifespan
Defects in associative long-term memory (LTM) formation
Mutant mice are born at the expected Mendelian rate. Neonates are smaller than wild-type and present high mortality, ranging from 70 to 100%, depending on the genetic background. Neonates display a shiny skin, but after a few hours their skin appears dry and cracked. The permeability barrier function of their skin is impaired, leading to rapid weight loss due to dehydration. Their epidermis has decreased levels of cholesterol esters, triglycerides, acylceramide, and glucosylacylceramide containing unsaturated fatty acids. In mutant neonates, triglyceride levels in liver and blood plasma are reduced by half, due to strongly reduced levels of stearoyl-CoA desaturase activity in the liver and strongly reduced levels of triglyceride biosynthesis. In contrast, the levels of stearoyl-CoA desaturase activity are normal in adult mice deficient for Scd2. Adult mice display kinked tails
Strains lacking this gene show normal growth, do not require exogenous inositol for growth, and show no differences in levels of phosphatidylinosotol mannosides (PIMs), lipomannan (LM), lipoarabinomannan (LAM) or mycothiol (in the absence of exogenous inositol)
Short root (PubMed:20876872). Mutant plants have increased sensitivity to salt-induced osmotic stress (PubMed:17662035)
No visible phenotype under normal growth conditions, but seeds have increased germination speed after imbibition, without affecting overall germination rate
N-starvation phenotype. Smaller rosette, but no effects on roots. Delayed growth and flowering when grown in greenhouse. Increased drought resistance
Mice die shortly after birth and show caudal truncation and severe skeletal malformations. Lack of segmentation and impaired segment polarity of the paraxial mesoderm are the primary defects. Mutants show altered expression of MEOX1, Pax1, and DLL1 and lack of expression of Notch1, Notch2, and FGFR1. Mice lacking Mesp1 and Mesp2 die around 9.5 dpc. The major defect is the apparent lack of any mesodermal layer between endoderm and ectoderm and a defect in the migratory activity of mesodermal cells
Not essential for BMC formation; when an artificial operon without BMC-P proteins (Hoch_5815, Hoch_5812, Hoch_3341, Hoch_5816) is expressed in E.coli BMC shells are made
Mutants have impaired capsule integrity as well as reduced surface hydrophobicity. Mutants have reduced amounts of surface localized proteins and glycolipids, and morphological differences in the capsular layer. Disruption of the gene is associated with reduced ubiquitin association in cell infection and attenuated virulence in the early stages of infection
Knockout mutant grows faster than the wild-type and exhibits a more spherical shape
No visible phenotype in normal conditions (PubMed:15647285). Mice display a normal base-line eosinophil levels in the hematopoietic tissues and gastrointestinal tract (PubMed:15647285). However, following intratracheal IL13 administration, mice show a profound reduction in airway eosinophilia (PubMed:15647285)
Mice are viable, fertile and morphologically normal. Show abnormal development of pharyngeal derivatives, including ectopic formation of the thymus and the parathyroid gland, as well as cardiovascular malformation
Lack of morphological features of apical-basal polarity resulting of no root, no true hypocotyl and abnormal shoot apical meristem. Cell wall alterations. Defects in cell adhesion. Aberrant leaf venation
RNAi-mediated knockdown causes no obvious phenotype. Results in a 3-fold increase in the number of animals lacking a gut in a mom-4 (or11) mutant background
Does not impair the production of oosporein (PubMed:26305932)
Mutants are defective in chemotaxis. They exhibit very high tumbling rates
Mutants abolish the further up-regulation and maintenance of proneural gene expression in the SOPs
Abolishes the expression of the entire sorbicillin biosynthesis gene cluster, and consequently, the production of all sorbicillinoid-related compounds (PubMed:28618182)
Embryos lacking maternal lilli show specific defects in the establishment of a functional cytoskeleton during cellularization, and exhibit a pair-rule segmentation phenotype. Adults lacking lilli exhibit reduction in cell and organ size and partial suppression of the increased growth associated with loss of PTEN function
Abnormal transcription up-regulation of some transposable elements (TEs) and of hypermethylated loci (including MU1, GP1, SN1 and ERT7) (PubMed:30382101, PubMed:30425322). Hypomethylated DNA CHG and CHH regions (PubMed:30382101, PubMed:30425322). Reduced H3K9me2 levels (PubMed:30382101). Increased ratio of decondensed nuclei (PubMed:30425322)
(Microbial infection) RNAi-mediated knockdown blocks infection by M.fortuitum and uptake of M.smegmatis
Mutant animals show no gross developmental abnormalities. They have enhanced fear-evoked freezing and compromised C-start responses. Mutant brains exhibit up-regulation of mTOR signaling
Mutants lose the chemotactic response towards arginine, but they still respond to leucine
Conditional knockout in glia causes an increase in HSP90AA1 ATPase activity and a down-regulation of ULK1, ERBB2, ESR1 and NR3C1 protein levels in the brain
Mutation abolishes AMB production (PubMed:20543073, PubMed:23542643). Deletion of the gene almost abolishes the production of the quorum sensing signals 2-heptyl-3-hydroxy-4(1H)-quinolone (PQS) and N-butanoylhomoserine lactone (C4HSL), but it has no effect on the biosynthesis of the quorum sensing signal N-3-oxododecanoylhomoserine lactone (3OC12HSL) (PubMed:23542643). Deletion causes a substantial reduction in the production of the virulence factors pyocyanine and elastase, and it reduces bacterial virulence by about 32-40% (PubMed:23542643)
Smaller body size compared to wild-type
Forms constitutive pseudohyphae. Impairs ability to damage human epithelial or human endothelial cells in vitro
Male mice are infertile, due to a defect at the spermatid stage of spermatogenesis, and show oligoasthenoteratozoospermia with almost no mature motile spermatozoa in the epididymis (PubMed:16382161, PubMed:16611999, PubMed:16612000). Heterozygous males and females and homozygous null females are fertile and have no overt developmental defects (PubMed:16382161, PubMed:16611999, PubMed:16612000). In the small intestine mucosa and under steady-state conditions, severe reduction in the number of intraepithelial CD4+ CD8+ T-cells and, partial reduction in the number of lamina propria and intraepithelial CD8+ and CD4+ T-cells (PubMed:24687959)
Deletion of this gene results in an increased sensitivity of the cells to P3N
Abolishes the production of humulene
Loss of adherence to human platelet cells, loss of export of cell wall protein GspB; GspB accumulates in the cytoplasm
Inactivation of this gene in a moa background (cells deficient in molybdopterin biosynthesis) results in increased N-6-hydroxylaminopurine (HAP) sensitivity, an increase in the level of mutagenesis, and increased recombination and SOS induction upon HAP exposure
Deletion decreases growth with L-threonate or D-erythronate as carbon source. Deletion of both otnI and hyi abolishes growth with L-threonate or D-erythronate
Mutant displays altered colony morphology and cell wall structure, reduced contents and altered composition of mycolic acids along with the accumulation of saturated C24 and C26 fatty acids, and enhanced susceptibility to antibiotics, detergents and acidic pH. Also impairs ability to survive in activated macrophages, but not in resting macrophages
Impairs growth on L-arabinose, but only a small growth reduction on L-arabitol
Mice lacking Pik3ap1 display altered B-cell maturation and impaired immune function. Pik3ap1 depletion has an opposite effect in NK cells by promoting their maturation. Mice lacking Pik3ap1 and Cd19 have severe defects in generation of immature and mature B-cells. Moreover, mice lacking Pik3ap1 display increased IL-10, Il-12 and TNF pro-inflammatory cytokine secretion upon activation of the Toll-like receptors TLR4, TLR7 and TLR9
Accumulation of overoxidized peroxiredoxin (Prx) and hyperoxidized form of Prx IIF, especially in response to photooxidative stress, H(2)O(2) treatment and water deficit. Increased tolerance to photooxidative stress generated by high light combined with low temperature. In long days, smaller leaves
Plants display to the slender phenotype, characterized by large amounts of GA20 that cannot be degraded, and is metabolized to excess GA1 on germination, producing plants with a characteristic slender or hyperelongated phenotype
Intestinal malrotation in 50% of animals, while other organs do not show major organ laterality defects. Intestinal malformations are associated with SHH pathway defects during early development (PubMed:24336288). Partial reduction of chorda tympani nerve response to sour stimuli, without affecting sweet, salty, bitter, and umami perception (PubMed:21625513)
Increases frequency of mitochondrial genome loss. Promotes reactive oxygen species (ROS) generation
Lower biomass at the time of harvest, but no visible phenotype until bolting. Decreased uptake of L-histidine, L-glutamine, glutamic acid, L-serine, glycine, L-asparagine, aspartic acid, L-proline and L- or D-alanine
Mice lacking this gene show impaired mucosal healing after injury and die from extensive colitis after oral administration of dextran sulfate
Rescues partially CLV3 disruption. When associated with BAM2 disruption, abnormal anthers at a very early stage and later lack of endothecium, middle and tapetum layers. Loss of stem cells at the shoot and flower meristems
No visible phenotype; due to the redundancy with RGLG1 (PubMed:17586653, PubMed:22095047). Rglg1 and rglg2 double mutants show a complete loss of apical dominance (PubMed:17586653). The double mutant seedlings rglg1 and rglg2 exhibit a dehydration-tolerant phenotype (PubMed:22095047)
RNAi-mediated knockdown causes embryonic lethality (PubMed:12498686). Embryos are arrested at the one-cell stage (PubMed:12498686). During the first mitotic division, embryos have defects in mitotic spindle formation, and centrosome duplication and positioning (PubMed:12498686). Chromosomes are decondensed, disorganized and accumulate due to a lack of cytokinesis (PubMed:12498686). RNAi-mediated knockdown at the larval stage causes in F1 embryos a loss of chromosome separation during meiosis I and no formation of polar bodies (PubMed:12498686). During meiosis, impaired cortical granule exocytosis (PubMed:17913784). Immediately after fertilization causes a reduction in cyclin cyb-1 protein levels (PubMed:23578927)
Female mice have more resorptions and more delayed embryos per litter as well as embryonic delays and defects: placentae of mothers are smaller and their embryos are smaller and display myocardial hypoplasia and a higher incidence of ventricular septal defects per litter (PubMed:18413293). Epigenetic transmission of developmental disorders between generations: a hypomorphic mutation disrupts folate metabolism and is associated with effects on offspring development that are transmitted transgenerationally. The epigenetic influences caused by Mtrr hypomorphic deficiency in mice leads to 2 distinctive phenotypes: (1) an atypical uterine environment in their wild-type daughters that causes growth defects in their wild-type grandprogeny and (2) congenital malformations in their wild-type grandprogeny due to epigenetic inheritance via the germline, the effects of which persist for at least up to 4 wild-type generations after an Mtrr-deficient maternal ancestor. These effects are associated with altered DNA methylation patterns (PubMed:24074862)
Inactivation of the gene leads to a 4- to 8-fold decrease in minimal inhibitory concentrations (MICs) for ethidium bromide, novobiocins, biarylpiperazines, bisanilopyrimidines, pyrroles and pyridones
Embryonic lethality in homozygous mutant. In heterozygous plants, impaired male-female gamete recognition when pollen of ank6 mutant is placed on ank6 female gamete. Defects in female gametophyte development at the one-nucleate stage (PubMed:21123745). Abnormal hypocotyls length. Reduced accumulation of anthocyanin in seedlings grown under far-red light, in response to high light and after sucrose treatment, associated with lower levels of the UDP-flavonoid-3'-glucosyl-transferase (A3G2XYLT/UF3GT), a major enzyme in the anthocyanin biosynthesis processes (PubMed:21395597)
Mice lacking isoform GP145-TRKB, the catalytic isoform, do not display feeding activity and die at P1. This is associated neuronal deficiencies in the central and the peripheral nervous systems
Delayed flowering and higher floral organs number with extra petals and sepals (PubMed:23632855). Increased H3K27me3 marks but decreased H3K4me3 marks on target gene loci (PubMed:23632855). Plants missing both EMF1 and ULT1 have rescued normal H3K27me3 marks and H3K4me3 marks (PubMed:23632855). Plants lacking both CRC and ULT1 exhibit strong floral meristem (FM) indeterminacy with reiterations of extra floral whorls in the center of the flower associated with reduced AGAMOUS and SUPERMAN levels (PubMed:18441215)
Mutant embryos show growth retardation from 7.5 dpc and die before 11.5 dpc
Deletion mutant leads to a reduction in virulence that is reflected by decreased bacterial dissemination, enhanced bacterial clearance and reduced host lung injury. It also results in increased swimming motility of approximatly 1.5-fold increase, and a 2-fold decrease in biofilm formation
Morpholino knockdown of the protein decreases head size, but not body length at 2 days post-fertilization (dpf) (PubMed:25316788). Show decreased formation of actively translating ribosomes (PubMed:25316788)
Leads to increased resistance to cell-wall-damaging agents, such as calcofluor white (CFW) and Congo red (CR) (PubMed:27479571). Impairs glucosylceramides biosynthesis (PubMed:27479571). Displays growth and conidiation defects as well as and raft mislocalization (PubMed:27479571). Finally, leads also to reduced neutral lipids levels and attenuated G.mellonella virulence (PubMed:27479571)
No viable adults (PubMed:21071672, PubMed:21282641, PubMed:21421844). Beginning at 11 dpc, deficient embryos exhibit completely penetrant, progressive CNS hemorrhage originating in forebrain telencephalon and ventral neural tube leading to embryonic lethality from 15.5 dpc (PubMed:21071672, PubMed:21282641, PubMed:21421844). Embryos at 11.5 dpc display selective CNS-specific vascular patterning defects, with markedly reduced angiogenic sprouting into the forebrain telencephalon and thickening of the underlying periventricular vascular plexus rendering the telencephalon virtually avascular (PubMed:21071672, PubMed:21282641, PubMed:21421844, PubMed:25373781). Remaining CNS vessels show significantly increased permeability (PubMed:21421844). Lung size is reduced in 15.5 dpc embryos (PubMed:21282641). Cleft palate is present at 15.5 dpc or later (PubMed:21282641). Conditional knockout mice lacking Adgra2 in the endothelia of adult mice show blood-brain barrier integrity defects in a stroke model and glioblastoma (PubMed:28288111)
Reduced number of heterogeneous large chloroplast population (small and large plastids) due to impaired plastid division (PubMed:25731613). Increased plastid volume in young leaf primordia and in the shoot apical meristem (SAM), including the central zone as well as peripheral zone of L1, the outermost layer, the peripheral zone of L2, and the peripheral zone of L3 (PubMed:29920253)
No visible phenotype under normal growth conditions (PubMed:21053011, PubMed:27725774). Mutant seedlings exhibit increased sensitivity to salt stress (PubMed:21053011, PubMed:27725774). Mutant seedling exhibit increased sensitivity to drought stress (PubMed:21053011)
RNAi-mediated knockdown in the early larval L1 stage causes both somatic gonadal progenitor (SGP) cells, Z1.ppp and Z4.aaa, to assume the ventral uterine precursor cell (VU) identity; whereas, if RNAi is applied during the late larval L1 stage, or at the larval L2 stage, both assume the anchor cell (AC) identity (PubMed:21784067, PubMed:14701877). RNAi-mediated knockdown applied at the time of the larval stage L1/L2 molt causes defects in invasion of the basement membrane by the AC (PubMed:21784067). RNAi-mediated knockdown causes the MI pharyngeal motorneuron to transform into an e3D-like epithelial cell (PubMed:21041366). RNAi-mediated knockdown reduces expression of alpha integrin ina-1 and of ADAMTS protease gon-1, and causes defects in migration of the gonadal distal tip cells (DTCs) (PubMed:25982859, PubMed:17588558). RNAi-mediated knockdown causes reduction in the number of hermaphrodites with DTCs, diminishes formation of elongated gonadal arms and reduces expression of lag-2 (PubMed:19376107). RNAi-mediated knockdown during larval stage L3 causes a subsequent three-fold reduction in germ cell number in the adult hermaphrodite gonad (PubMed:19376107). RNAi-mediated knockdown increases lifespan, reduces fertility, improves the response to proteotoxic stress, alters the response to reactive oxygen species (ROS) and reduces expression of arginine kinases such as argk-1 (PubMed:32203922)
Embryos die at the time of implantation because of a defect in intercellular adhesion
Embryonic lethal (PubMed:18562695, PubMed:26485283). RNAi-mediated knockdown in somatic gonadal cells results in female, but not male, infertility associated with extensive disintegration of the egg chambers and cell death in nurse cells (PubMed:26485283). RNAi-mediated knockdown in spermatocytes causes abnormal localization of nuclear type-B lamin Lam, abnormal spindle envelope integrity and overall defective cytokinesis in meiosis (PubMed:27402967)
No longer expresses O-antigen LPS side chain or A-band LPS, sensitive to serum, resistant to virus E79. Has no phosphomannomutase nor phosphoglucomutase activities (PubMed:7515870, PubMed:8050998). Does not make rhamnolipid (PubMed:10481091)
Homozygous knockout mice are viable, fertile and do not display overt phenotype (PubMed:25299331). Composition and number of major immune cells is normal but mice are more susceptible to DNA-virus infection and death than their wild-type counterpart (PubMed:25299331)
Plants develop abnormal anthers with degraded microspores, causing male sterility
Leads to normal accumulation of leporin C accumulated but to 30-fold reduced production of leporin B (PubMed:26051490)
Increased cell number in upper pistils leading to enhanced stigmatic structure. Impaired siliques formation. Reduced expression of auxin-related genes
Cells lacking this gene are unable to grow with mannose as the sole carbon source
Mutant mice exhibit macrothrombocytopenia (reduced platelet numbers and the presence of enlarged platelets) and a susceptibility to bleeding because of defective platelet production and function. They show an increased platelet turnover leading to reduced platelet numbers. Their megakaryocytes exhibit reduced integrin-mediated functions, defective formation of proplatelets as well as an increased metalloproteinase production
No visible phenotype on growth in medium containing glucose and acetoin or in medium with acetate compared to wild-type. After glucose exhaustion acetoin is quickly consumed similarly to wild-type. In the late exponential growth phase slightly more pyruvate is produced compared to wild-type
Decreased growth, abnormal leaf morphology and ectopic floral development and sterility. Higher starch accumulation in chloroplasts and reduced rates of mitochondrial protein import
Eliminates TAFC esterase activity and causes increased intracellular accumulation of TAFC and TAFC hydrolysis products (PubMed:17586718). Reduces the intracellular transfer rate of iron from TAFC to DF-FC and delays iron sensing (PubMed:17586718). Causes a decreased radial growth rate under iron-depleted but not iron-replete conditions (PubMed:17586718)
RNAi-mediated knock-down of isoform a in a dys-1/hlh-1 double mutant background reduces muscle degeneration
Embryonic lethal. Conditional knockout in brain causes cerebellar histopathology including increased apoptosis of cerebellar granule neurons, reduced numbers of cerebellar interneurons and decreased electrophysiological spike activity in Purkinje cells. Mutant mice exhibit cerebellar ataxia and elevated levels of ADP-ribose in cerebellum. Double knockout with PARP1 restores the normal interneuron density and ADP-ribose levels, reducing cerebellar ataxia in comparison to the single XRCC1 knockout mice
Not essential in culture. Gives an attenuated infection during both progressive and chronic mouse infections. Mice infected with the disrupted strain induce a stronger host immune response than wild-type. Growth inhibited by S-nitrosoglutathione (GSNO), a source of glutathione and nitric oxide. Mutant cells are less metabolically active. When chronic infection was reactivated by corticosterone the mutant strain was not able to resume growth, suggesting that WhiB5 might be involved with bacillary proliferation during reactivation
No visible phenotype under normal growth conditions but early wilting (PubMed:22730405). Increased sensitivity to drought stress due to impaired stomatal closure and increased water loss (PubMed:22730405). Abolished CO(2)-mediated and darkness-induced stomatal closure (PubMed:27694184). Defective abscisic acid (ABA) and hydrogen peroxide (H(2)O(2)) induction of stomatal closure associated with an impaired activation of S-type anion currents in guard cells (PubMed:22730405). Impaired stomatal closure after treatment with methyl jasmonate (MeJA), salicylic acid (SA) and flagellin 22 (Flg22) (PubMed:29463779). Altered ABA-mediated inhibition of light-induced stomatal opening (PubMed:22730405). Apoplastic ROS-sensitive plants exhibiting severe tissue damage when exposed to ozone (O3) (PubMed:30361234)
No visible phenotype; mice are viable, fertile and display no gross anatomical alterations, with the exception of reduced body weight and peripheral fat deposits. Mice are resistant to a high-fat diet-induced obesity. Cardiomyocyte-specific double konckout for ESRRA and ESRRG are slower at gaining weight, smaller and shorter from 5 to 7 days of age compared to controls. They show decreased absolute weight of most internal organs except the heart. They have about 70% decreased plasma IGF1 levels but normal plasma growth hormone levels. At 14-15 days, mutants develop lethal dilated cardiomyopathy and heart failure (PubMed:28572090)
Eliminates TAFC production and increases FsC production about 10-fold (PubMed:17845073). Does not affect the production of FC (PubMed:17845073)
There are differing accounts of the mutant phenotypes. According to an early study with a limited number of progeny from different sources (PubMed:15978034), it is embryonic lethal when homozygous. However, a more recent study describes homozygous lines that show normal vegetative growth, but reduced fertility and meiotic defects (PubMed:19153602)
Knockout mice show no cardiovascular phenotype at baseline. After myocardial infarction however, capillarization of the infarct border zone is impaired and the animals develop larger infarct scars and more pronounced left ventricular remodeling and systolic dysfunction compared with wild-type mice
Brassinolide-reversible dark- and light-grown defects; small dark-green dwarf plants with a limited leaves expension due to a reduced number of cells per leaf blade (PubMed:10394910, PubMed:11867704, PubMed:8602526, PubMed:9401120). Small and less elongated seeds due to a decreased seed cavity, reduced endosperm volume and integument cell length (PubMed:22822057). Delay embryo development, with a reduction in both the size and number of embryo cells (PubMed:22822057)
Decreased muscle endurance under energetically demanding conditions (PubMed:24252090). Decreased Mn-SOD activity in liver, increased mitochondrial superoxide levels and genomic instability upon exposure to ionizing radiations (PubMed:21172655). In vivo ATP levels are reduced by 50 % in organs that normally express high levels of this protein (PubMed:18794531). ATP levels are unchanged in organs that normally express low levels of this protein (PubMed:18794531). Leads to increased mitochondrial protein acetylation (PubMed:18794531). Decreased ceramide accumulation in brain mitochondria (PubMed:26620563)
Deletion mutant cannot produce VB or virginiamycin
No visible phenotype under normal growth conditions, but mutant plant roots are more sensitive to anoxia
Disruption of the gene results in melanocyte pigmentation defects, decreased body length, and bladder defects associated with abnormalities in surfactant production or distribution, consistent with abnormalities of lysosome-related organelles. Mutant animals also have defects in the optokinetic response and eye movement control system, suggesting cerebellar dysfunction. Microglia from mutant fish show morphologic abnormalities, with larger or more numerous lysosomal compartments and increased expression of acidic lysosomal markers compared to controls
Impaired nucleolar dominance
No visible phenotype, but mice display impaired degradation of insulin and APP-derived peptides (PubMed:12634421, PubMed:12732730). At 17 to 20 weeks after birth, mutant mice display increased serum insulin levels and decreased glucose tolerance (PubMed:12634421)
Loses the ability to produce mycophenolic acid (MPA) and several MPA-related compounds, such as MPA diol lactone, 4-O-mycophenolate, and deacetyl pebrolide (PubMed:21398490)
Cells lacking this gene fail to synthesize cobalamin
Postembryonic RNAi-mediated knock-down results in either larval arrest, or adult sterility with a protruding vulva phenotype (PubMed:12808038, PubMed:12827206). Worms have defective chromosome segregation (PubMed:12808038)
In strain D10, causes a loss of binding of human CFH to the merozoite surface resulting in a 7-fold increase in host complement-mediated merozoite lysis
Mice display frequent early mortality, congenital growth retardation, skeletal abnormalities and neurological defects. Defects are caused by absence of all sulfatases activities. Massive glycosaminoglycans accumulation and cell vacuolization are observed in all tissues and are associated with systemic inflammation, apoptosis and neurodegeneration
Leads to decreased growth and increased intracellular accumulation of hydrolysis products of the siderophore fusarinine C (PubMed:24038704)
At the L1 larval stage, display defects in the positioning of the ventral nerve cord (VNC) axons characterized by axons of embryonically generated PVQ and PVP neurons, but not of RMEV, HSN and AVK neurons, from the left and right VNC drifting into the opposite cord (axon flip-over) (PubMed:11809975, PubMed:19737747). These defects are not enhanced in a zig-3 (tm924) mutant background or in zig-3 (tm924) dig-1 (ky188), zig-3 (tm924) sax-7 (nj48) or zig-3 (tm924) egl-15 (n484) mutant background (PubMed:19737747). In a zig-1, zig-2, zig-3 or zig-5 or zig-8 mutant background, cell body positioning of ASI and ASH head neurons is normal (PubMed:22829780)
Morpholino knockdown of ambra1a and ambra1b results in reduced autophagy and increased apoptosis during embryogenesis (PubMed:23348054). Morpholino knockdown of ambra1a and ambra1b results in reduced autophagy and increased apoptosis during embryogenesis (PubMed:23348054). Morpholino knockdown of ambra1a and ambra1b results in impaired locomotion, caused by abnormal myogenesis (PubMed:24922546)
Abnormalities in the brain starting at midsomitogenesis stages
Embryonic lethality caused by impaired erythroid development (PubMed:25952549). Conditional deletion in adult mice results in severe anemia and cytopenia (PubMed:25952549). Cells show elevated endoplasmic reticulum stress and unfolded protein response in bone marrow cells and impaired autophagic degradation (PubMed:25952549). Conditional knockout in cardiomyocytes causes age-dependent cardiomyopathy and heart failure, characterized by elevated cardiac fetal gene expression, increased fibrosis, and impaired cardiac contractility (PubMed:30354401). When challenged with pressure overload, cardiac-specific knockout mice display greater hypertrophy, exacerbated fibrosis, and worsened cardiac contractility compared to wild-type mice counterparts (PubMed:30354401). Conditional knockout in adults causes a significant loss of both Paneth and goblet cells in intestine, which in turn results in dysbiotic microbiota and increased susceptibility to experimentally induced colitis (PubMed:30701081)
Mutant exhibits hypersensitivity to zinc, cadmium, lead and, to a lesser extent, cobalt and nickel
Diminishes greatly the production of the two bis-thiomethylated analogs of acetylaranotin, bisdethiobis(methylthio)-acetylaranotin and bisdethiobis(methylthio)-acetylapoaranotin
Inhibits the utilization of acetate, ethanol, and fatty acids, but also reduces the growth rate on glucose
Altered morphology of stipules (PubMed:23136374, PubMed:10948249, PubMed:19488780). Altered morphology of flowers (PubMed:23136374). Production of abnormal nodules that develop roots from the apical part of the nodule (PubMed:16043431)
No visible phenotype under normal growth conditions, but the double mutants dgk2 and dgk4 exhibit defective pollen growth and seed development because of non-viable male gametophyte
Does not grow on xanthosine. Slightly increases inosine productivity compared to wild-type (5.6 g/l of inosine versus 4.6 g/l, respectively, from 40 g/l of glucose)
RNAi-mediated knockdown causes a complete loss of nlp-29 expression following fungal infection by D.coniospora and a partial reduction following physical injury
Deletion mutant is unable to grow on either isomer of lysine
Reduced levels of arabinogalactan proteins (PubMed:26690932). Defects in root hair growth, root elongation, pollen tube growth, flowering time, leaf development, silique length and inflorescence growth. Increased sensitivity to salt stress (PubMed:25974423)
Severe size reduction of all organs (PubMed:21512130, PubMed:23832588). Abnormal cell wall composition (PubMed:23832588)
Variety of phenotypic effects, including aerial rosettes, serrated leaves, abnormal position of flowers, fertility problems and late flowering
Plants show no obvious cell division or endoreduplication phenotype when grown under nonstress conditions, but are hypersensitive to agents that impair DNA replication
Disruption of the gene results in perinatal lethality due to impaired neuronal functions. Mutant animals that survive to adulthood show growth retardation and severe sensorimotor deficits. The neurologic deficits in these mice is associated with the degeneration of several neuronal populations, most notably CA3 pyramidal neurons of the hippocampus, resulting from excitotoxicity. This is associated with excessive expression and activation of calcium-permeable glutamate receptors at the synapse. A wide variety of clathrin-mediated functions and lysosomal pathways are however preserved in mutant mice
Hypersensitivity to DNA-cross-linking agents (PubMed:8816490). In follicle cells, results in reduced fork progression in physiological rereplication regions necessary for the amplification of the eggshell (chorion) protein genes (PubMed:27849606). Reduces mRNA expression of chorion protein genes which results in compromised eggshell integrity and reduced egg hatching frequency (PubMed:27849606). In follicle cells, simultaneous knockout of DNAlig4 and DNApol-theta reduces rereplication origin firing (PubMed:27849606)
Altered seed morphology and delayed seed germination as well as inhibited root elongation in the dark; an exogenous carbon source is required to recover from the delayed seedling establishment. Reduced levels of glutamine, pyroglutamic acid, aspartate, beta-alanine, fumaric acid, glyceraldehyde and ribose, but increased accumulation of serine, glycine, asparagine, 3-cyanoalanine and 5-methylthiopentanitrile
Dwarf plants with necrosis along the edges of the leaves, multiple inflorescences and sterile flowers
Highly sensible to fluoride, but not to other halide salts. The growth of a double deletion of both FEX1 and FEX2 is inhibited at almost a 1000-fold lower fluoride concentration than in the wild-type. Has increased intracellular fluoride concentrations
No visible phenotype. Severely compromised root waving and abnormal root skewing response. Hypersensitivity to ethylene (ACC)
Males are healthy, grossly normal and exhibit normal mating behavior but are infertile (PubMed:32484434, PubMed:32393636). Sperm are morphologically normal, exhibit normal motility and can penetrate the zona pellucida and bind to the oolemma but are unable to fuse with the egg membrane or penetrate into the ooplasm (PubMed:32484434, PubMed:32393636). No effect on location of sperm-egg fusion protein IZUMO1 (PubMed:32393636)
Morpholino knockdown of the protein results in brain developmental defects. Morphants show a small head and seizure-like electroencephalography spikes. Additional defects include slow circulation, bend body and pericardial edema
Promoted M.persicae aphid population development
Accelerated germination, faster hypocotyl and primary root elongation, more lateral and adventitious roots formation, faster development of the inflorescence, and more lateral inflorescences initiation and fruits (PubMed:18359753). The double mutant myb11 myb111 and triple mutant myb11 myb12 myb111 accumulate less flavonols in roots, leaves, stems, inflorescence, and siliques. The double mutant myb11 myb12 is specifically altered in flavonols content of siliques (PubMed:20731781). The triple mutant myb11 myb12 myb111 is impaired in flavonols biosynthesis and exhibits a reduced UV-B tolerance (PubMed:17419845, PubMed:19895401)
Reduced numbers of germ cell corpses, hypersensitive to the lethal effects of hypoxia, increase in production of males (Him phenotype), decreased lifespan and in extreme cases embryonic lethality (PubMed:11557844, PubMed:11696333, PubMed:15273685, PubMed:17895432, PubMed:19015549, PubMed:26598553). In cep-1 and prmt-5 double mutants, germline cell death and up-regulation of egl-1 mRNA induced by gamma irradiation is prevented (PubMed:19521535). Double RNAi-mediated knockdown together with ape-1 abrogates the increased number of apoptotic germ cells in the ape-1 knockdown model (PubMed:12524540)
Cells lacking this gene completely degrade cholesterol to half the yield of wild-type and accumulate HIP
Homozygous knockout mice for ABCB10 are embryonic lethal and embryos are pale and die between 10.5 and 11.5 dpc because of embryonic hematopoietic failure (PubMed:24421385, PubMed:22240895). Embryos are completely resorbed by the uterus by 13.5 dpc and present severe anemia at 10.5 dpc (PubMed:22240895)
Homozygous knockout mice die before birth
Two independent knockout mice have been generated for the gene encoding this protein, and these exhibit different phenotypes. Mice lacking exons 7-12 exhibit reduced growth rate and body weight and resistance to dietary-induced obesity. Individual adipocytes from these animals are hypoproliferative while the adipose tissue is prone to apoptosis. Mice lacking exons 7-16 die perinatally from gastroschisis, in which abdominal viscera are extruded through the ventral body wall. Surviving mice exhibit deficient wound healing, having dermal fibroblasts with reduced proliferative capacity. Mice lacking exons 7-16 may exhibit phenotypes arising from effects on the locus encoding Pold2, which lies immediately downstream of this locus
Leads to predominant production of large tuberculate spores with severe viability defects (PubMed:18791067)
Although mutant embryos are present at the expected Mendelian rate at 18.5 dpc, they die shortly after birth with signs of respiratory distress and cyanosis, likely due to craniofacial malformations. Malformations in knockout mice range from ocular hypotelorism, narrow snout, laterally cleft lip, and cleft secondary palate to cyclopia and presence of proboscis or a single head-like protrusion devoid of facial features. In addition, the weight of knockout embryos is significantly reduced. In knockout animals, PP2A activity is increased in palatal and facial tissues as compared to wild-type, but not in lungs, which do not seem to be affected by the mutation
RNAi-mediated knockdown of the protein impairs assembly of the F(1) component and slows the proliferation rate of procyclic cells that are cultivated in vitro in the presence of glucose. RNAi-mediated knockdown of the protein also slows the proliferation rate of the bloodstream form of the parasite, despite the fact that the organism can profit from blood glucose as source of energy. Mitochondrial membrane potential is dramatically reduced in the bloodstream form that relies on ATP hydrolysis to maintain mitochondrial membrane potential
Accumulates the intermediate 4-dimethylallyl-L-abrine (PubMed:21409592)
Cells show a decrease in the ability to reduce both glyceraldehyde and glucose in an NADPH-coupled reaction and a decrease in glucose levels. They grow normally but form long unbroken streams and huge groups. They show normal adhesion but a reduced motility. They secrete low levels of countin and CF50, two component of the counting factor (CF) but are responsive to CF and partially responsive to recombinant countin and CF50
Knockout mice developed normally and did not display any gross phenotypic abnormalities. Knockout mice show a complete deficiency of ergothioneine in heart, liver, small intestine, kidney and erythrocytes. Impaired intestinal absorption and renal reabsorption of ergothioneine (PubMed:20224991, PubMed:20601551). Lower tolerance to intestinal oxidative stress (PubMed:20224991)
Abolishes growth in trehalose carbon source (PubMed:33146242). Normal growth in glucose carbon source (PubMed:33146242). Decreases virulence in a mouse infection model (PubMed:33146242)
Bushy and stunted stature
Mouse aerosol infections with this mutant show reduced colony-forming unit loads in lungs and spleens and reduced lung pathology. High dose intravenous infection of mice with the mutant results in a significantly delayed mortality compared with the wild-type
Mutant sporulates normally and has the same resistance to heat and UV radiation than wild-type spores. It exhibits no defect in the initiation of spore germination, but the spore outgrowth is slower than that of wild-type spores (PubMed:9611260). Mutant shows a reduced rate of spore germination in L-alanine (PubMed:28333204)
Accumulation of alpha-carotene and alpha-cryptoxanthin. Triple mutant cyp97a3, bch1 and bch2 has a highly retarded growth
Homozygous mutant knockout mice for Fut1 develop normally, exhibit no gross phenotypic abnormalities and the Fucalpha(1-->2)Galbeta epitope is absent from the epithelia of the epididymis mice
Twisted leaves with small spontaneous lesions, early yellowing of leaves and anthocyanin accumulation defects. Chlorotic shoots. Retarded growth with wrinkled rosette leaves under long-day growth conditions. Impaired abscisic acid (ABA)-mediated and mannitol (drought)-promoted stomatal closure (PubMed:27956469). Increased number of lateral roots (PubMed:35249253). Plants impaired for both B1L and EXO70B1 produce more lateral roots than single mutants (PubMed:35249253)
Minor effect on jasmonic acid response and no effect on glucosinolate biosynthesis, but decreased abscisic acid sensitivity. Myc2 and myc3 double mutant has an increased insensitivity to jasmonic acid. Myc2 and myc4 double mutant has an increased insensitivity to jasmonic acid. Myc2, myc3 and myc4 triple mutant has no jasmonate-related defense response, is devoid of glucosinolates and is extremely susceptible to generalist herbivores
Mice were born at expected Mendelian ratios and do not show any visible phenotype, displaying normal heart function and cardiac dimensions (PubMed:35101990). Cells however display defects in complex III activity and metabolic perturbations in the heart, as well as altered complex III assembly into respiratory supercomplexes (PubMed:35101990)
Sensitive to caffeine and thermal stress (PubMed:18627462). Resistance to zymocin (PubMed:27694803, PubMed:18627462)
Hip1 and Hip1r double knockout mice are dwarfed, afflicted with severe vertebral defects and die in early adulthood
Significant growth defect during anaerobic growth on glycerol fumarate medium (a quadruple fdrABCD deletion); the defect is similar in strains also containing an sdhE deletion (PubMed:24374335)
Mice are viable but show growth defects (PubMed:26715742). Disorganization of epithelial architecture, characterized by impaired apical-to-basal polarity of microtubules in epithelial cells (PubMed:26715742). Defects in the stereotypic positioning of the nucleus and Golgi apparatus (PubMed:26715742). Mice display subfertility in both sexes and severe nasal airway blockage leading to coughing, sneezing, hyposmia and rhinosinusitis (PubMed:32482850). Majority of cilia lack the central microtubule pair in their axoneme and display disorientated basal bodies and defects in ciliary motion, which is no longer synchronized (PubMed:32482850)
On exposure to acute pressure overload, mice exhibit a marked increase in: heart weight and fibrosis, cardiomyocyte size and number of apoptotic cells in the myocardium, deposition of extracellular matrix (ECM) and levels of interstitial collagens. The increased ECM deposition is accompanied by changes in functional parameters of the heart and decreased vessel density. Mice also show defective induction of the ER stress response in the heart. Do not exhibit peripheral nerve injury-induced behavioral hypersensitivities such as thermal/mechanical hyperalgesia and tactile allodynia but show severe defects in cortical-injury-induced subventricular zone astrogenesis
RNAi-mediated knockdown results in the failure of hermaphrodite-specific neurons to migrate to their correct position associated with a defect in axonal guidance
Longer lag phase at 20 degrees Celsius, wild-type growth rate at 30 degrees Celsius, no growth at 10 degrees Celsius. At 12 degrees Celsius cells were short and stocky, by transmission electron microscopy the cytoplasm appears empty although cells are viable. Decreased growth in the presence of H(2)O(2) and diamide
Cells lacking this gene show a significant defect of growth at 78 degrees Celsius and accumulate N1-aminopropylagmatine. The double mutant of speB and speE shows defective growth at 70 degrees Celsius and significant defective growth at 78 degrees Celsius. It accumulates agmatine and N1-aminopropylagmatine
Mutant female meiotic spindles can be unipolar, multipolar or frayed with no defined poles
Defective preference between different food odors
Disturbed levels of several metabolites (e.g. beta-alanine, ribose, aspartate, pyroglutamate, glutamate, asparagine, fructose-6-phosphate, myo-inositol, 1,4-diaminobutane, palmitate and shikimate). Enhanced freezing tolerance associated with enhanced cold induction of cold-responsive C-repeat-binding factor (CBF) target genes in the double mutant lacking both GRF6 and GRF8, probably due to the suppression of ubiquitin-mediated degradation DREB1A and DREB1B degradation by the 26S proteasome pathway (PubMed:28344081, PubMed:31297122). Enhanced freezing tolerance in the triple mutant lacking B1L, GRF6 and GRF8 (PubMed:31297122)
Abolishes acetylation of histone H3 'Lys-56'; simultaneous disruption of GCN5 also abolishes acetylation of histone H3 'Lys-9' and 'Lys-27' (PubMed:21256037). Decreases acetylation of histone H3 'Lys-9' and 'Lys-23' (PubMed:19172748). Decreases HTA1 RNA level; simultaneous disruption of HIR1 or RTT106 alleviates the effect (PubMed:19683497). Increases sensitivity to methyl methane sulfonate, hydroxyurea, and camptothecin (genotoxic stress) (PubMed:18568037, PubMed:18719104)
Deficient mice exhibit no altered phenotype except a exaggerated response of macrophages to TLR9 (PubMed:30111894). Morphology of PLD3-deficient brains does not reveal any major abnormalities but an altered lysosomal structure (PubMed:29386126). PDL3 and PLD4 double-deficient mice are unable to survive beyond the age of 21 days due to severe liver inflammation (PubMed:30111894). Livers from double-knockout mice develop lethal hepatic autoinflammatory disease that could be prevented by a single allele of either PDL3 or PLD4 (PubMed:30111894)
Impairs heme import into cell; simultaneous disruption of str3 exacerbates the effect
Probably essential, it cannot be deleted (PubMed:15225304). Depleted strain have decreased levels of hox hydrogenase (PubMed:16102913). In depletion studies using merodiploid strains 32 genes are up-regulated while 25 are down-regulated; many of them are known or predicted to be involved in carbon metabolism; cells grow poorly in the absence of inorganic carbon (PubMed:15225304)
No obvious growth phenotype, but leaf trichomes with 4 branches instead of 3 and decreased size and number of Golgi-associated vesicles in root-cap peripheral cells (PubMed:15574882, PubMed:19939242). Smaller pits in the secondary cell walls of root metaxylem vessels (PubMed:24280391). Enlarged petals and overbranched trichomes (PubMed:25232944)
Specific deletion of isoform Sry-T in XY mice results in complete male-to-female sex reversal
Lethal with most dying before pupation (PubMed:16713954). Mitochondria in the testis and skeletal muscles display morphological defects indicative of defective mitochondrial fusion (PubMed:16713954). The few escapers that survive to adulthood, display neurological defects, male sterility, and do not survive for longer than three days (PubMed:16713954). Also displays photoreceptor degeneration after prolonged light stimulation and abnormal photoreceptor synaptic function which specifically affects both the generation of light responses and the signal transfer across the first visual synapse (PubMed:16713954)
Loss of expression of msDNA, no longer mutagenic (when overexpressed)
Mice are viable and fertile, but die of virus infections that are normally efficiently dealt with by the immune system. They cannot eliminate lymphocytic choriomeningitis virus, but die of the infection. Young mice are abnormally susceptible to mouse hepatitis virus. Cytolytic activity towards tumor cells and transplants is also severely reduced
Premature expression of sigma-G factor (sigG or spoIIIG) activity during the early stages of forespore development (PubMed:17921305, PubMed:18208527). Spore formation continues normally (PubMed:17921305, PubMed:8759874). However its absence has deleterious effects on strain robustness and is strongly selected against in competitions experiments (PubMed:18208527)
Requires tryptophan and has a partial requirement for p-aminobenzoic acid for growth
Normal phenotype. Drastic growth defects like ectopic meristem formation and sterility when associated with the disruption of RING1A
Mice do not survive beyond 2 to 3 days after birth
Mice display a reduction in the early antibody response to a T-dependent antigen (PubMed:19597478). B-cells fail to move to the outer follicle at day 2 of activation, and instead are found in the follicle center (PubMed:19615922). Mice have normal numbers of B- and T-cells and organized follicles and T-cell compartments are present (PubMed:19615922). Mice show a decreased number of splenic CD4(+) dendritic cells and defective priming of T- and B-cell response (PubMed:23682316, PubMed:23502855). Reduced follicular helper T (Tfh) cells (PubMed:27147029). T-cells fail to accumulate in the outer T zone at either time point and instead remain dispersed throughout the T zone (PubMed:27147029)
Although morphologically normal at birth, knockout mice become immobile, breathe irregularly, appear cyanotic, and die within an hour. Mice had developmental changes in neuromuscular junction morphology reminiscent of changes in mutant mice lacking ACh synthesis
Exhibits diminished extracellular biofilm material, renders cells more dependent on chitin for wall integrity, and attenuates virulence in mice
Lacks queuosine in tRNA(Asp) (PubMed:24911101). Supplying exogenous queuosine (Q) or queuine (q) results in q incorporation in tRNA(Asp) in the wild-type S.pombe strain, whereas the deletion mutant strain fails to utilize exogenous Q to modify its tRNA while retaining the ability to use q (PubMed:36610787)
Mutant shows a decrease in the ratio of methylthiolated to unmodified S12 and a decrease in transcription of a subset of genes
Mostly lethal due to a male gametophytic defect
Results in late stage egg chambers that contain persisting nurse cell nuclei without fragmented DNA and attenuation of caspase-3 cleavage
Null cells could not be established, suggesting that sir2E might be essential
Mice are born at the expected Mendelian rate, are viable and fertile and display no obvious external phenotype. Unlike wild-type mice, that have tightly fasciculated and smooth nerve bundles, mutant mice have more loosely bundled nerves with many single axons extending out of the main nerve. Eyes from mutant mice display a variable degree of retinal displasia (PubMed:15345243). Besides, lymph nodes from mutant mice display reduced weight and cellularity, but appear otherwise normal (PubMed:23169771). Mutant mice have only half of the normal number of hematopoietic stem cells in their bone marrow (PubMed:24740813, PubMed:25730656). Survival of lethally irradiated mice that receive bone marrow from mutant mice is impaired, due to impaired homotypic cell-cell attachment, impaired engraftment and proliferation of mutant hematopoietic stem cells (PubMed:24740813). Mutant mice are larger and heavier than wild-type and have increased bone mineral density (PubMed:25730656). Mutant spleen has an altered leukocyte composition, with reduced numbers of CD4(+) and CD8(+) T-cells, B-cells, dendritic cells, neutrophils and macrophages, but no change in the total leukocyte number. Their lungs display reduced numbers of lymph vessel and blood vessel endothelial cells, but no difference in lung weight. Lymph vessels in mesentery and diaphragm are more densely interconnected and show a decreased level of hierarchical vascular organization in mutant mice (PubMed:23169771)
Mutant mice grow normally and are fertile. They display a sparse hair coat, a hyperplastic pilosebaceous system and their hair lipid content is disturbed with exceptionally high levels of eicosenoic acid (20:1). In the triglyceride fraction, fatty acids longer than 20 carbon atoms are almost undetectable. As a result, mice exhibited a severe defect in water repulsion and increased trans-epidermal water loss. When exposed to cold stress, mutants exhibit a significantly reduced VLCFA elongation activity in brown adipose tissue, but only during the initial phase. Cold-acclimated mutants are equally efficient as normal mice at elongating fatty acids. Mutant mice are lean and resistant to diet-induced weight gain, they show normal food intake but increased metabolic rate, and show reduced hepatic lipogenesis and triglycerides synthesis
Neutrophils form multiple transient pseudopods upon chemotactic stimulation, and do not migrate efficiently in vitro
Mice are resistant to experimental autoimmune encephalomyelitis (EAE), a T-cell-mediated autoimmune model (PubMed:29244194). The expression of pro-inflammatory mediators is severely reduced in EAE (PubMed:29244194)
Mice show a dramatic susceptibility to T. gondii infection, resulting in rapid death of infected mice in the acute phase of infection. A significantly increased parasite load seen in the spleen, liver and the peritoneal fluid, with markedly elevated production of pro-inflammatory cytokines and development of severe ascites
Absence of XcpZ results in decreased amount of XcpY in type II secretion system complexes
Not essential. No glucose groups on the glycerol residues of teichoic acid in cell walls
Seedling lethality when homozygous. Dwarf and pale yellowish phenotype when grown on MS medium supplemented with 2% sucrose
RNAi-mediated knockdown abolishes expression of acdh-1 when diet is supplemented with 5 nM vitamin B12 and high levels (40 mM) of propionate
Mutants show reduced intracellular nickel or cobalt levels
Lowers plasma and tissue triglyceride levels, and increases cellular free cholesterol
RNAi-mediated knockdown results in extra cell divisions in the vulval lineage, but does not result in defects in cytokinesis (PubMed:15247923, PubMed:21723944). RNAi-mediated knockdown decreases cki-1 expression in the nucleus of vulval precursor cells (PubMed:15247923). In contrasting studies RNAi-mediated knockdown results in embryonic lethality with the production of multinucleated embryos that exhibit cytokinesis failure during telophase, no central spindle formation, and failed localization of the spindle component zen-4 and its interacting partner air-2 at the spindle in either anaphase or telophase (PubMed:12213836)
Increased level of stearate (18:0) and reduced level of oleic acid (18:1) in leaves. Spontaneous cell death, constitutive PR genes expression, accumulation of high levels of salicylic acid (SA), enhanced resistance to Pseudomonas syringae, Peronospora parasitica and Cucumber mosaic virus, and enhanced susceptibility to Botrytis cinerea
Dwarf, narrow leaf, low tillering, lesion mimic, late heading and low fertility phenotypes
No visible phenotype under normal growth conditions, but mutant plants exhibit reduced growth rate under cold or heat stresses
No visible phenotype. Serk1 and serk2 double mutants are completely male sterile due to a failure in tapetum specification. Delayed floral abscission (PubMed:27058169)
From 6 to 30 weeks of age, males gain less weight than age-matched control wild-type mice when weaned onto a chow diet. By 30 weeks of age, females are also lean compared with wild-type females. At 12 weeks of age, male and female are 3% to 4% shorter than wild-type controls. Shows less hepatic cytoplasmic vacuoles, more distinct hepatic cords and sinusoids and increased leptin sensitivity
Abnormal embryos arrested at the globular stage with an abnormal aleurone layer on the ventral side
Sensory and motor neuron axonal projection defects
Retarded growth and reduced levels of DNA in both mitochondria and plastids. Double homozygous mutants polIa and polIb are sterile
Elongated hypocotyl phenotype due to defect in the tetrapyrrole chromophore phytochromobilin biosynthesis
Leads to altered expression of 79 genes, including genes related to transcription, genes involving cell rescue and defense, and genes involved in cell cycle and DNA processing
Neointimal hyperplasia (PubMed:15721306). In lungs, decreased level of phosphatidylcholine in the bronchoalveolar lavage is observed (PubMed:19250629). Mice develop spontaneous gradual progression of emphysema (PubMed:19250629)
Mutant mice display decreased exploratory behavior and increased fear-related behavior in anxiogenic environments. Mutant mice display altered monoamine metabolism in specific parts of the brain, especially in dorsal and medial raphe nuclei, thalamus and hypothalamus, leading to altered levels of 5-hydroxytryptamine, dopamine and their metabolites, as well as altered noradrenaline levels
Taxomifen-inducible gene disruption in adult mice leads to premature death within 3 weeks after the onset of taxomifen treatment. Mice progressively loose weight and become moribund despite increased food intake and normal blood glucose levels, suggesting nutrient maladsorption. After eight days of treatment, the pancreas was diffusely dark red and soft, suggesting severe pancreas atrophy. Still, the endocrine parts of the pancreas were not affected. Pancreas weight was about half of that of wild-type, the size of secretory zymogen granules was reduced and pancreatic lipase and alpha-amylase levels were strongly reduced. Besides, the morphology of the endoplasmic reticulum in pancreas acinar cells was abnormal, with swollen and fragmented cisternae. Likewise, SYVN1 protein levels are decreased, while those of other ERAD markers are increased (PubMed:24453213). Adipocyte-specific gene disruption does not give rise to any obvious phenotype when mice are kept on a low-fat diet. Mutant mice are resistant to diet-induced obesity when kept on a high-fat diet, in spite of normal food intake and physical activity. Mutant mice show dramatically reduced accumulation of fat mass relative to wild-type, while lean mass is not affected. Intriguingly, mutant mice display enlarged livers that develop steatosis and increased triglyceride levels. Mutant mice display increased fasting serum triglyceride and insulin levels. Likewise, mutant mice display hypertriglyceridemia after feeding, especially on a high-fat diet. In spite of increased cellular LPL levels, LPL secretion is reduced by 80 to 90% (PubMed:25066055)
Variant nuclear number and positions (PubMed:15634699). Pollen development defective (PubMed:19237690)
Disruption of both alleles leads to letality. Disruption of only one allele impairs filamentation and leads to an altered cell wall composition with reduced amounts of beta-1,6-glucan and shows reduced virulence in a mouse model of hematogenously disseminated candidiasis (HDC) and using reconstituted human epithelium (RHE)
Sensitivity to ketoconazole
Deletion abolishes the secretion of Hcp1, Tse3 and VgrG proteins, all markers of T6SS activity
Morpholino knockdown results in reduced head structures, close-set eyes and dorsal curvature. and loss of fin. At higher dose Morpholino knockdown results in the inhibition of antero-posterior axis elongation and breakdown of the epidermis, which resulted in exposure of the inner tissues to the outer environment and causes a loss of epidermal cells such as small secretory cells
Impairs growth on non-fermentable carbon sources (PubMed:11353088). Results in sensitivity to a combination of low osmolarity and high temperature (PubMed:11353088). Results also in the reduced expression of genes involved in non-fermentable carbon source utilization including MLS1, FBP1, ACO1, PCK1, ICL1, MDH2, SFC1, ADY2, GDH2, FUM1, CIT1 and CIT2, when cells were shifted from glucose to ethanol (PubMed:25673751). Leads to reduced PCK1 and FBP1 enzymatic activities (PubMed:25673751). Leads to defective mitochondrial morphology with unclear structures of the inner membrane cristae when grown in ethanol (PubMed:25673751)
Considerable lethality around 10 dpf (PubMed:25592226). No effect on initial pancreas development, but at 16 dpf mutants display loss of pancreatic acinar tissue (PubMed:25592226). At 22 dpf, most pancreatic acinar tissue has disappeared and has been replaced by fibrotic tissue that surrounds dilated, mucus-filled ducts (PubMed:25592226). Morpholino knockdown of the protein in 48 hpf embryos leads to impaired resistance to P.aeruginosa strain PA14 and strain SMC573, as shown by the increased bacterial burden, but there is no effect on resistance to E.tarda, B.cenocepacia, S.aureus MZ100, E.coli XL-10 and H.influenzae Hib EAGAN (PubMed:20732993). Morpholino knockdown of the protein causes an important reduction of the volume of Kupffer's vesicle during embryonic development (PubMed:26432887)
Cells show decreased piliation and transformation efficiency. It uses hemoglobin as a heme and iron source in the absence of a hemoglobin receptor and it has elevated sensitivities to various antimicrobial compounds
Loss of aleurone cells leading to white grains. Embryos arrest at the juvenile globoid stage and are devoid of shoot structures
Mutant mice are born at the expected Mendelian rate, but die by suffocation shortly after birth because of an immature chest cavity. They exhibit severe chondrodysplasia. The cartilage shows a lack of typical columnar structure in the proliferating zone and a decrease in the size of the hypertrophic zone, resulting in a significant reduction of extracellular matrix proteins. Proliferating chondrocytes show abnormally expanded ER, containing aggregated type II collagen and cartilage oligomeric matrix protein (COMP). Displays significant decrease in Sec23a levels
Cells appear normal, no effect on flotillin cluster numbers or size
Flies display impaired olfactory memories within 3 min of training. Mutant embryos show reduced level of phagocytosis
Reduced primary root length and increased length and number of lateral roots. Reduced plant growth and early flowering. Reduced seedling levels of glucose and fructose, but increased levels of sucrose
Male mice are infertile due to spermatocyte loss as a result of characteristic impairment of sex body formation. Spermatocyte apoptosis is confined to the stage IV seminiferous tubules. In contrast to males, female mice are fertile
Abolishes the production of xanthocillin derivatives including a dimethoxyl formyl xanthocillin derivative, the sulfated formyl xanthocillin derivative fumiformamide, a 1,2-diformylamido derivative named melanocin E, and the imidazole-containing melanocin F
Insensitive to the effect of sucrose on the circadian period
Disruption of this gene has no effect on vegetative growth but causes a sporulation defect, characterized by very low sporulation frequencies and heat-sensitive spores devoid of DPA, which can be cured by supplementation with dipicolinate
Longer hypocotyls when grown in presence of exogenous MeIAA
Cells form colonies in which certain architectural features are absent or less prominent than those observed in wild-type colonies. The Ecs activity could be important for the development of communities
No obvious phenotypes
Delayed germination, but almost normal growth after germination in sh3p2 partial mutants (PubMed:28584166). RNAi plants exhibit cytokinesis-defective phenotypes associated with the aggregation of vesicles at the leading edge of the cell plate and abnormal cytosolic localization of DRP1A in dividing cells (PubMed:28584166)
When associated with disruption in CAR4, CAR5 and CAR9 genes, reduced sensitivity to abscisic acid (ABA) during seedling establishment and root growth regulation
Mutants die soon after hatching and during all three larval stages with only 2% reaching the third instar larval stage and these die before metamorphosis (PubMed:20023169). Altered expression levels of a number of genes in third instar larvae and chronic inflammation and starvation responses in the larval gut epithelium with a predominance of extremely large lipid droplets and obesity but not hyperglycemia (PubMed:22851689)
Mutant flies survive until adulthood but exhibit flight defects and poor locomotion (PubMed:27919077, PubMed:27919081, PubMed:28675155). Flies display sexual transformations dues to Sxl splicing defects (PubMed:27919081, PubMed:28675155)
Mice display a significan reduction in Ca(2+) flux in cortical neurons, leading to a profound loss of long term potentiation and an increase in long term depression at hippocampal Schaffer/CA1 synapses, and clear deficits in specific tests of motor learning and spatial working memory (PubMed:16407245). Mice do not show any obvious loss of photoreceptor function in cones (PubMed:16407245)
Prestalk cell numbers are reduced in slugs and these prestalk cells do not localize to the tip of slugs. Development terminates at the finger or slug stage, and these slugs do not phototax, possibly because the tip region does not properly form
RNAi-mediated knockdown results in abnormal gonadal development in 10% of animals whereby gonads fail to divide or grow in size (PubMed:15294864). This abnormality is enhanced in a tra-1 (e1099) mutant background and is accompanied by masculinization of gonadal tissues (PubMed:15294864)
Leads to the loss of T-Toxin production, resulting in low virulence for maize (PubMed:12236595)
Mutant cannot grow with LPC as the sole carbon source
Non-essential gene, increased formation of inactive 100S ribosomes in stationary phase, which persist longer than in wild-type. Double hpr-yfiA deletion mutants form 90S ribosomes (PubMed:16324148). A quadruple yfiA-hpf-rmf-sra knockout strain is significantly outcompeted by wild-type after 4 days growth (PubMed:17277072). No visible effect on viability or growth rate at 37 or 10 degrees Celsius, slight effect on bulk translation and timing of expression of some cold-shock proteins (PubMed:23420694)
Mutant has reduced surface piliation and is unable to increase piliation upon surface exposure. It shows defects in initial surface attachment and in early biofilm formation, but late biofilm formation is not affected. Mutant loses walking motility but twitching motility is barely affected
Knockout mice are generally phenotypically normal, viable, and fertile (PubMed:19386896). Normal overall retina structure and morphology of the outer plexiform layer (OPL) and inner plexiform layer (IPL) (PubMed:19386896). Abundance and distribution of synaptic proteins remain consistent (PubMed:19386896). Reduced retinal synaptic transmission and inner retinal processing (PubMed:19386896). Cplx3 and Cplx4 double knockout mice are generally phenotypically normal, viable, and fertile, however show disordered morphology of the OPL and vision perturbation when compared to single knockout mice (PubMed:19386896). Cplx3 and Cplx4 double knockout mice show evidence of mild vision perturbation, with a reduction in the number of morphologically normal anchored presynaptic ribbon synapses and a decrease in controlled neurotransmitter release at photoreceptor ribbon synapses (PubMed:19386896). Cplx3 and Cplx4 double knockout mice show reduced response and sensitivity of ON and OFF ganglion cell response as a result of disrupted synaptic transmission (PubMed:22694764). Cplx3 and Cplx4 double knockout mice show a greater variance in photoreceptor activity response and a decrease in sustained response, this is caused by an increase in release and fusion of synaptic vesicles in an asynchronous manner, this is particularly evident following multiple stimuli (PubMed:27335398)
Mutant is sensitive to ionizing radiation, UV light and mitomycin C
Temperature sensitive with partial embryonic lethality at 25 degrees Celsius (PubMed:24595290). Inhibited degradation of maternal membrane proteins, cav-1, chs-1 and rme-2, and ubiquitination of cav-1 with accumulation of these proteins on the maternal plasma membrane and endosome-like vesicles in later-stage embryos (PubMed:24595290). RNAi-mediated knockdown prevents localization of ubiquitin and proteasomes to polyglutamine protein aggregates (PubMed:17663792). Reduced growth of polyglutamine protein aggregates (PubMed:17663792, PubMed:22494772). Inhibited degradation of maternal membrane protein, cav-1 in embryos (PubMed:24595290)
Deletion mice inhibit hypertrophic remodeling after transverse aortic constriction surgery
Embryos stop elongation at the 2-fold stage and have defects in the organization of the myofibril lattice. pat-3, deb-1, pat-4 and pat-6 are slightly mislocalized in the post 1.5-fold stage. At the 1.5-fold stage, unc-89 and myo-3 localization is normal. However, at the 1.75- and 2-fold stages, unc-89 and myo-3 are mislocalized into large foci within muscle cells
In larval brain, leads to overgrowth and defective differentiation halting the development of secondary neuroblasts beyond the stage of immature type II intermediary neuronal progenitors (INP)
Reduced hypocotyl bending and dose-dependent altered root gravitropism associated with an altered PIN2 traffic that impairs the formation of auxin gradients, thus leading to an irregular waves root shape
Embryonic-lethal with deficient embryos arrested at early globular stage of development characterized by nucleolar hypertrophy
Tasp1-null mice are born with no apparent respiratory distress, but the majority dies at postpartum day 1 or 2 with no obvious milk spots, suggesting a feeding defect. Newborns are smaller in size compared to their wild-type littermates. This phenotype appears in utero. Animals that survive the newborn period are markedly smaller through adulthood, and display skeletal abnormalities
Mild slow-growth phenotype in response to reduced iron levels (PubMed:26450372). Displays global translation defects during recovery from stationary phase with translation of most genes reduced more than 4-fold. Ribosomes accumulated at start codons, were depleted from stop codons, and showed codon-specific changes in occupancy (PubMed:30208026)
Mutant mice are born at the expected Mendelian rate. All die between 15 to 33 days after birth due to early-onset dilated cardiomyopathy. Cardiac muscle thin filaments are shorter than in wild-type, both in embryonic heart and in pups 6 or 15 days after birth. Hearts appear grossly normal at birth, but after 15 days, they display enlarged left ventricles with thin ventricle walls and resuced systolic performance. In contrast, there are no differences in thin filament length in skeletal muscle (PubMed:26487682). Insertion of a transposon in the first, non-coding exon decreases Lmod2 expression by 90% in females and by over 95% in males and gives rise to a phenotype that is closely similar to that of complete gene disruption, except that mutant mice die between three and nine weeks after birth (PubMed:27274810)
Reduced amounts of paucimannosidic N-glycans-containing glycoproteins in roots and leaves
Roots exhibit a negative gravitropic response, and grow upward in the opposite direrction of root gravitropism
Deletion of vgrG1c shows residual type VI secretion (PubMed:21325275). However, simultaneous deletion of all three vgrG genes (vgrG1a, vgrG1b and vgrG1c) totally abrogates bacterial killing (PubMed:24794869)
Mice appear normal; they are viable and fertile but have reduced muscular strength, due to defects in the structure of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact. In mutant mice, about 25% of the triads are in oblique or longitudinal orientation, instead of the normal transversal orientation (PubMed:19843516). Similar structural defects are seen in the heart, leading to impaired excitation-contraction coupling. Mutant mice are subject to stress-induced ventricular tachycardia (PubMed:19383796)
RNAi-mediated knockdown in embryos results in lethality prior to hatching and an increased number of apoptotic cell corpses at the comma stage of embryogenesis (PubMed:18635357). RNAi-mediated knockdown in developing larvae results in smaller adults which have reduced locomotory muscle and epidermal cell sizes, and reduced total body protein content (PubMed:18635357). Cell size defects are suppressed in a ced-4 n1162 or ced-4 RNAi mutant background (PubMed:18635357). RNAi-mediated knockdown results in smaller and poorly stacked endoplasmic reticulum-Golgi intermediate compartment (ERGIC) and Golgi membranes, fragmentation of the endoplasmic reticulum and few Golgi networks (PubMed:21478858). RNAi-mediated knockdown reduces the accumulation of sec-16A.1 and the COPII subunit npp-20 at endoplasmic reticulum exit sites (ERES) within the germline (PubMed:21478858). Does not reduce the expression of sec-16A.1 and does not affect the localization of npp-20 to the nuclear envelope (PubMed:21478858). RNAi-mediated knockdown causes the disassembly of the npp-20-containing heterotetrameric complex, resulting in monomeric npp-20 (PubMed:21478858). RNAi-mediated knockdown results in defective secretory cargo trafficking from the endoplasmic reticulum to the ERGIC and Golgi apparatus, and the subsequence accumulation of secreted integral membrane proteins including snb-1, cav-1 and sqv-8 in the endoplasmic reticulum (PubMed:21478858). RNAi-mediated knockdown results in disrupted retrograde trafficking of the GTPase rab-6 from the Golgi apparatus to the endoplasmic reticulum and causes the accumulation of rab-6 at enlarged early endosomes (PubMed:21478858)
Impairs the synthesis of terretonin but accumulates preterrenoid (PubMed:23116177)
Short pollen tube growth and failure to exit the style (PubMed:15514068). Compromised cytokinesis due to the mislocalization of the KNOLLE syntaxin (PubMed:23543752, PubMed:23733933). Full spectrum of growth defects, suggestive of compromised auxin signaling and of defective RLK signaling. Cell morphogenesis was also disturbed (PubMed:23766365). Impaired pollen function and growth retardation phenotype (PubMed:23733933)
Disrupted photorespiratory flux leading to a slight altered leaf concentrations of the photorespiratory intermediates hydroxypyruvate (HP), glycerate, and glycine
Essential, it cannot be disrupted; cell division is arrested and cells form unseparated doublets with well-defined septa
Animals are viable, but sterile and display phenotypes including an increased lifespan, age-dependent decline in their pharyngeal pumping rate and locomotion, reduced body fat and decreased oxygen consumption and an impaired ability to maintain mitochondrial membrane potential (PubMed:25187565). RNAi-mediated knockdown causes a number of defects during the first embryonic mitotic division including delayed spindle rotation, diminished spindle pole separation, two-fold faster chromosomal segregation, increased distance between chromosomes after anaphase onset, delayed mitotic exit, less efficient removal of smo-1 from chromatin after anaphase onset and prevention of air-2 from localizing to the spindle midzone (PubMed:25475837). RNAi-mediated knockdown results in increased sumoylation of hmgs-1 (PubMed:25187565). RNAi-mediated knockdown prevents dve-1 translocation to the nucleus in response to mitochondrial stress (PubMed:30642431). RNAi-mediated knockdown reduces the levels of afts-1, but levels are restored following inhibition of the proteasome (PubMed:30642431). RNAi-mediated knockdown reduces the survival of animals and results in impaired activation of the mitochondrial unfolded protein response following the inhibition of respiration induced by antimycin A (PubMed:30642431). RNAi-mediated knockdown impairs development and survival, and reduces the expression of immune response genes lys-2, zip-2, clec-4, clec-65 and ugt-61 following infection with P.aeruginosa (PubMed:30642431)
Death during the first days after birth. Pups appear normal and display normal levels of activity, but their activity is disorganized. Pups do not orient to the dam, do not succeed in grasping a nipple and do not feed properly. In addition, they display altered respiration
Knockout males show normal spermatogenesis, produce morphologically normal spermatozoa and sire healthy offspring (PubMed:30613052). DDX3X and DDX3Y double knockout is embryonic lethal (PubMed:30613052). DDX3X and DDX3Y double knockout germ cells can differentiate into spermatozoa (PubMed:30613052)
Increased levels of thalianol in roots
Mutants appear morphologically normal and have no observable effect on dorsal aorta specification (PubMed:30705153). Mutants have reduced the number of nascent hematopoietic stem cells in the ventral dorsal aorta between 28 and 60 hours post-fertilization (hpf) (PubMed:30705153). Mutant embryos show increased cholesterol content (PubMed:30705153, PubMed:23719382)
RNAi-mediated knockdown results in an approximately 50 percent reduction in number of offspring
Macrophages lacking ECSIT exhibit profound disruption of mitochondrial complex I/CI. Deletion lead to increased dependence on glycolysis and mitochondrial respiratory chain dysfunction
Embryos exhibit blood vascular defects and die in utero. The survivors manifest growth retardation as indicated by smaller size and a reduced weight, and display impairment of brain functions including motor balance, and spatial learning and memory (PubMed:26951452). Mice exhibit a reduction in the size of brains, reduced dendritic spine density, impaired synaptic transmission and reduced levels of antioxidant enzymes in the hippocampus (PubMed:26792191, PubMed:26212327). Knockdown of RNF112 diminishes neuronal differentiation, glial differentiation and dendritic arborization in primary cerebellar granule cells (PubMed:28684796, PubMed:21566658)
Variegated plants and appearance of specific new restriction fragments in the mitochondrial genome
Defective pollen with low rate of germination. Reduction of anthocyanin accumulation in response to exogenous sucrose or maltose
In sec22-1 and sec22-2, impaired gametophytes development (PubMed:21205036). Morphological disruption of the endoplasmic reticulum (ER) as well as Golgi fragmentation and consumption in pollen grains (PubMed:21205036). Abnormal pollen development during the bicellular stage, eventually giving rise to degenerated pollen grains (PubMed:21205036). Altered embryogenesis in embryo sacs leading to unfused polar nuclei in their central cell (PubMed:21205036). Repressed cesium Cs(+) uptake and accumulation (PubMed:23817436)
Deletion of the gene affects both virulence factors and the quorum-sensing system, and significantly decreases total bacteria in a mouse pneumonia model compared to the wild-type strain
Growth retardation, constitutive pathogen resistance phenotype and increased levels of reactive oxygen species and NADH
Deletion of the gene leads to faster growth of E.coli in D-galactonate and results in a considerable increase in the expression of dgo genes
Cells lacking this gene are defective for growth with D-threitol and are totally unable to grow on erythritol
Pupal lethal (PubMed:27672113). Under nutrient-replete conditions, larvae display a significant increase in TORC1 activity, indicated by increased phosphorylation of S6K/p70S6K (PubMed:27672113). RNAi-mediated knockdown in the female germline results in a large percentage of ovarian cysts delaying mitotic exit (PubMed:25512509, PubMed:27672113). Instead, cysts undergo a fifth mitotic division before meiotic commitment to produce 32-cell cysts with a single oocyte (PubMed:25512509, PubMed:27672113). Double RNAi-mediated knockdown with GATOR1 complex member Nprl2 in the female germline increases the penetrance of ovarian cysts displaying delayed mitotic exit and producing 32-cell cysts (PubMed:27672113, PubMed:25512509). The number of ovarian cysts that delay meiotic commitment and undergo a fifth mitotic division are decreased when females are fed the mTORC1 complex inhibitor rapamycin (PubMed:25512509)
Abnormal petal and stamen structures
RNAi-mediated knockdown causes an arrest at the 50-cell embryonic stage. The few surviving animals are arrested at the larval L2 to L3 molt with their cuticle remaining attached to the mid-portion of the body. RNAi-mediated knockdown at various larval stages causes severe defects in molting
Impairs the production of trypacidin and pathway intermediates including questin (PubMed:26278536, PubMed:26242966). Leads to enhanced phagocytosis ratio by macrophages and amoebae (PubMed:26278536)
dagA and piaA double mutants require both proteins for reconstitution and activation of adenylyl cyclase
Mice are born at the expected Mendelian rate. At birth, mutant pups have threefold higher plasma triglyceride levels and sevenfold higher VLDL cholesterol levels relative to wild-type. After suckling they become progressively pale, then cyanotic, and die at about 18 hours after birth. At 18 hours after birth, their plasma triglyceride levels reach 15'090 mg/dl, compared to 188 mg/dl for wild-type. At the same time point, VLDL cholesterol levels reach 280 mg/dl in mutant pups, compared to 6 mg/dl in wild-type. Mutant pups show severly reduced adipose tissue, and their livers are deficient in intracellular lipid droplets. Likewise, the numbers of intracellular lipid droplets in skeletal muscle are severely reduced. Lungs display lipid-filled alveoli and dilated capillaries that are engorged with lipoprotein particles. These particles are marginated and seem to block the access of red blood cells to the vascular endothelium
RNAi-mediated knockdown in ASH sensory neurons results in hypersensitivity to dilute quinine
Mutant embryos exhibit intra-uterine growth retardation and have small placentas due to a reduction in the number of spongiotrophoblast, glycogen trophoblast and sinusoidal trophoblast giant cells. They show an incomplete penetrance of embryonic lethality preferentially affecting females. Knockout have heterogeneous spermatogenic defects and testicular degeneration leading to infertility in the most severe cases. During spermatogenesis, mutants show impaired recombination during leptotene stage of meiotic prophase leading to chromosome asynapsis. Knockout females are fertile (PubMed:23364048, PubMed:23674551, PubMed:18802469, PubMed:21103378, PubMed:28708824). Males deficient for both Tex19.1 and Tex19.2 have impaired spermatogenesis, small testes and are infertile. They show vacuolization and seminiferous epithelium degeneration as early as P16. They have defects in meiotic chromosome synapsis, persistence of DNA double-strand breaks during meiosis, lack of post-meiotic germ cell and up-regulation of MMERVK10C retrotransposon expression. Number of females deficient for both for Tex19.1 and Tex19.2 that survive 2 weeks or more is reduced compared to males. Females display normal fertility. Surviving mutants do not present gross somatic abnormalities (PubMed:28254886)
Mice show a significant decrease in bone formation and bone mineralization and the mineralization defect is independent of calcium and phosphate metabolisms. Testis is smaller, sperm number is significantly decreased and testicular differentiation is perturbed (PubMed:26207632). Significantly reduced cortical thickness in the mid-shaft of the femur at postnatal day 14 (P14), and progressive bone hypoplasia after 8 weeks (PubMed:22416756)
No obvious phenotype (PubMed:19825675). Increased galacturonic acid and Gal content in cell wall, but reduced xylose and rhamnose content (PubMed:19825675). The gaut13 gaut14 double mutant is defective in male gametophyte function; swollen pollen tubes disturbed in elongation, and characterized by a disorganized outer layer cell wall with an altered repartition of pectin (e.g. homogalacturonan) (PubMed:23709340)
Reduced proportion of the cellular volume devoted to chloroplasts leading to an abnormal chloroplasts distributions (PubMed:26862170). Lower levels of chlorophyll, especially in plants lacking REC1, REC2, REC3 and FMT/CLU (PubMed:26862170)
Mice are born at the expected Mendelian frequency (PubMed:25865831). Mutant mice exhibit significant reduction of dendritic spine numbers, altered dendritic spine morphology with a reduction in the number of mushroom, thin and stubby types of dendritic spines, decreased protein levels of the neurotransmitter receptors DRD1, DRD2, HTR1A and 5HT7R and reduced numbers of DRD1 receptors on dendritic spines (PubMed:25865831). Inhibited memory-related high-frequency-induced synaptic strengthening (PubMed:25865831)
Plants show late flowering phenotype (mutants LD-1 and LD-3)
No response of neurons in the vomeronasal organ or accessory olfactory bulb to Esp1 and no enhancement of lordosis following exposure to Esp1
Deficient mice have normal body weight, adipose development, and tissue inflammation under physiologic conditions. However, when fed on a high-fat diet, Cmklr2 knockout mice develop heightened glucose intolerance, compared with WT, with no effect on body weight, percent body fat, or energy expenditure due to consumption of significantly less food. Moreover, mice lacking Cmklr2 exhibited reduced glucose-stimulated insulin levels and elevated glucose levels in a pyruvate tolerance test
Centrosome amplification as well as multipolar spindles. Cells overexpressing Kifc1 show a single microtubule aster and growth arrest in prometaphase
Aborted ovule development after the first mitosis
Disruption of the gene abrogates enterochelin-supported growth on iron-chelated media
Deletion results in dysregulation of the archaellum regulatory network that leads to reduced motility, though the archaellum is properly assembled. Deletion mutant is still able to sense starvation and to induce archaellum formation, but with a delay at the signal transduction cascade level
Dwarf, viviparous, lesion mimic and sterility phenotypes
Petals are more symmetrical than in the wild type
Severe deficiency in cardiac morphology and structure and 70% enbryonic lethality within 24 hpf (PubMed:35039994). Morpholino-mediated knockdown impairs the migration of hepatoblasts out from the gut endoderm, blocks liver bud formation, and results in a reduced liver size (PubMed:21471154). Also impairs development of pancreas and swim bladder (PubMed:21471154)
Significantly reduces the production of deacetyl astellolides A and B
Reduced rate of growth. Embryonic lethal. Mog-2 and rnp-3 double mutants show arrested larval development at L2, without showing signs of oogenesis or spermatogenesis and increased rates of embryonic lethality
Knockout mice lacking Ndnf are grossly normal and able to produce viable pups (PubMed:31883645). Absence of Ndnf in 13.5 dpc embryos results in abnormal development of the olfactory system and defective gonadotropin-releasing hormone (GnRH) expressing neurons migration to the hypothalamus (PubMed:31883645)
Plants develop deformed or collapsed and inviable pollen grains
RegX3 cannot be deleted alone (PubMed:17526710). However, the deletion of the senX3-regX3 operon is possible, possibly due to the accumulation of compensatory mutations (PubMed:22956756). SenX3-regX3 deletion mutant is more sensitive to phosphate limitation, showing a reduced ability to grow at lower phosphate concentrations (PubMed:22956756). The M.tuberculosis operon can functionally complement the growth phenotype in M.smegmatis under phosphate-replete conditions, but not under low phosphate conditions (PubMed:22956756)
Mutant mice show impaired glucose tolerance without any marked hyperglycemia
Mice show loss of nascent substantia nigra dopaminergic neurons at the beginning of their final differentiation and a loss of tyrosine hydroxylase (TH) expression specifically in the substantia nigra neurons
Impairs pathogenicity (PubMed:22589729). Exhibits a defect in appressorium-mediated penetration in rice leaf sheath cells but neither in conidial germination nor appressorium formation (PubMed:22589729)
Mutants exhibit a cold-sensitive phenotype
Retarded growth. Reduced photosynthetic electron transfer. Marked decrease in the accumulation of LFNR1 and LFNR2-containing thylakoid protein complexes
The pear1 pear2 dof6 tmo6 quadruple mutant plants showed a uniform reduction in radial growth, associated with compromised symplastic trafficking
Deficient mice exhibit reduced growth, impaired body weight control, insulin response and amino acid absorption and excretion
Asparagine transport is partially impaired in the mutant. Knockout mutant is impaired in nitrogen incorporation from asparagine into other amino acids, such as glutamate and glutamine. Growth of the knockout strain is greatly reduced at pH 5.5 in the presence of asparagine as sole nitrogen source. Mutant is not attenuated in immune-competent mice
No visible phenotype (PubMed:16359384). Delayed leaf senescence and flowering (PubMed:9351240, PubMed:19229035, PubMed:20113437, PubMed:21303842). Increased tolerance to various types of oxidative stress including H(2)O(2), salicylhydroxamic acid (SHAM), N,N-diethyldithio carbamic acid (DDC) and methyl viologen (MV) (PubMed:15295076). Impaired age-related resistance (ARR) against Pseudomonas syringae pv. tomato and Hyaloperonospora arabidopsidis (PubMed:19694953). Increased seed germination rate under saline conditions and delay of salinity-induced chlorophyll loss in leaves (PubMed:20113437)
Mutant mice are viable, have normal postnatal development and show normal thermogenesis in response to cold and diet (PubMed:11101840). They develop glucose intolerance through reduced insulin sensitivity in peripheral organs (PubMed:26919426). Deficient mice are resistant to infection by intracellular parasite Toxoplasma gondi likely due to increased macrophage ROS production (PubMed:11101840)
Morpholino knockdowns show increased embryonic lethality, with embryos that die developing one of two clear phenotypes following developmental arrest at 10 hpf (PubMed:22235774). The first group show severe epiboly arrest with the desmosomal cadherins and enveloping layer becoming detached from the external yolk syncytial layer that continues to undergo epiboly (PubMed:22235774). This results in a population of cells at the animal pole which maintain cell division and some gastrulation movements (PubMed:22235774). In the second phenotype the enveloping layer is attached to the yolk but does not progress through epiboly (PubMed:22235774). The enveloping layer remains attached in a ring to the base of the blastoderm until embryos arrest due to mechanical stress and detachment of the blastoderm from the yolk cell following extensive proliferation and blastoderm growth (PubMed:22235774). Embryos that survive to 14 hpf show morphological defects characteristic of altered gastrulation movements including a shorter embryonic axis, undulating notochord and somites that show either altered morphology or substantial disorganization (PubMed:22235774)
Increased sensitivity to exogenous abscisic acid (ABA) and increased resistance to drought stress due to smaller stomatal apertures. Acceleration of fruit ripening with abnormally long shape by enhancing ABA levels and promoting the early release of ethylene (IAA) in immature fruit, and associated with altered expression of fruit ripening genes (e.g. ethylene biosynthesis and cell wall catabolism). Up-regulation of the expression of CYP707A2, which encodes an ABA 8'-hydroxylase, thus preventing excessive ABA accumulation. Seeds exhibit delayed germination and root growth
Knockout mice show lysosomal nucleoside buildup, elevated intralysosomal pH, altered macrophage function, and develop spontaneous and progressive macrophage-dominated histiocytosis
Mice are viable to adulthood but display defects in skeletal muscle growth including reduced muscle mass, marked increase in centrally placed nuclei and disorganized intermyofibrillar network
Pale green leaves and reduced chlorophyll levels associated with altered regulation of sugar-sensing genes (e.g. HXK1, HXK2, STP13 and PLT6) (PubMed:18417639, PubMed:21453984, PubMed:22102866, PubMed:22811435). Reduced chloroplast size (PubMed:22811435). Faster seed germination. Early flowering. Increased leaves size (PubMed:20844019, PubMed:22102866). Reduced gibberellic acid (GA) levels due to increased GA turnover and associated with reduced expression of GA-anabolizing enzymes (e.g. GA3OX1) but increased expression of GA-catabolizing enzymes (e.g. GA2OX2) (PubMed:20844019). Small seeds with deformed seed coats (PubMed:22102866). The double mutant gnc cga1, lacking both GATA22 and GATA21, exhibits reduced sensitivity to cytokinin (e.g. benzyladenine) toward chloroplasts growth (PubMed:22811435)
RNAi-mediated knockdown results in disruption of invariant Y-to-PDA transdifferentiation (PubMed:25124442). Results in decreased trimethylation at 'Lys-4' of histone H3 (PubMed:20555324). Leads to an extension of lifespan (PubMed:20555324). Leads to a deregulation of fat metabolism and to an enrichment of mono-unsaturated fatty acids (PubMed:28379943)
Early flowering. Pleiotropic developmental effects including dwarf and bushy phenotype, reduced seed setting and defects in ovule and embryo sac development (PubMed:18070919, PubMed:19915673, PubMed:24838002). Altered responses to brassinosteroid (BR) (PubMed:24838002)
Delayed transition from spikelet meristems to floral meristems, resulting in the production of multiple rudimentary glumes in an alternative phyllotaxy. Abnormal development of additional bracts leading to altered floral architecture, inculding lemma/palea-like organs in place of empty glumes and lodicules, altered number of stamens and carpels, and ectopic florets occurring in the axil of the rachilla (PubMed:17144896, PubMed:22003982). The snb osids1 double mutant, lacking both SNB and IDS1, exhibits a decreased number of branches and spikelets within a panicle, as well as a strongly delayed transition to a floral meristem, associated with abnormal spatio-temporal expression of B- and E-function floral organ identity genes in the lodicules and of spikelet meristem genes (PubMed:22003982)
Greatly reduced nuclear accumulation of lin-15a protein but no effect on mRNA levels
Increased levels of photosystem I (PSI), decreased levels of phycobilisomes (PBS) and photosystem II (PSII) per cell. Cells are unable to undergo state transitions. When combined with an ApcD deletion mutant the cells have decreased PBS, PSI and PSII, and require glucose to grow
Formation of cytoplasmic bodies
Morphologically normal, including normal hippocampus and cerebellum morphology (PubMed:16504143). Develop a stress response that includes stationary stance progressing to a high amplitude coarse truncal tremor and ataxic gait when exposed to cold-water swim (PubMed:26269648). Loss of KCNA1/KV1.1 and KCNA2/KV1.2 at cerebellar cortex basket cell distal terminals results in loss of ephaptic inhibitory synchronization of Purkinje cell firing (PubMed:26269648). Impaired spatial learning and motor coordination (PubMed:16504143). Decrease in pain response to chemical stimuli such as subcutaneous injection of formalin or acetic acid (PubMed:16729981)
Deletion of the gene results in a significant growth defect under rich-medium growth conditions and in strong dependency on supplemental extracellular magnesium
Mutant mice have no gross abnormality in survival, appearance or behavior. Males are infertile with defective sperm hyperactivation. Females have normal reproductive ability and give birth with no difference in litter size
Embryonic lethality caused by a strong reduction of histone H3 'Lys-14' acetylation (H3K14ac) (PubMed:21149574). Development is arrested at the 10-somite stage (PubMed:21149574). Blood vessels, mesenchyme, and somites are disorganized (PubMed:21149574). No defects in DNA replication or cell proliferation are observed (PubMed:21149574). Conditional mice lacking Kat7 in thymocytes display normal alpha-beta T-cells but show impaired development of peripheral CD4(+) or CD8(+) T-cells (PubMed:27733580)
Leads to an absence of radial spoke 1 (RS1) complex from sperm axonemes (PubMed:36417862). Leads to flagellar bending defects in sperm cells, and consequently abnormal flagellar beating and asthenospermia (reduced sperm motility) (PubMed:36417862, PubMed:36355624). Male mice are infertile, no effect on female fertility (PubMed:36417862, PubMed:36355624). Elongated cilia (PubMed:21289087). Increases levels of phosphorylated MAPK1/ERK2 and MAPK3/ERK1 (PubMed:36355624)
Cells lacking this gene do not make wax ester and only trace amounts of triacylglycerol
Mutants are auxotrophic for proline
Various plant growth reductions (e.g. dwarf), cell form defects (e.g. reduced trichome branches number) and reduced mitotic activity. Less root cortical microtubule arrays hypersensitive to microtubule-destabilizing drugs. Aberrant microtubule preprophase bands, mitotic spindles, and phragmoplasts
In double and triple mutants arl8a-1 arl8b-1 and arl8a-1 arl8b-1 arl8c-1, impaired multiplication of tomato mosaic virus (ToMV)
Mice are viable and fertile, but lack behavorial and physiological responses to capsaicin and show impaired responses to noxious heat stimuli. Their dorsal root ganglion neurons do not display calcium channel activation in response to capsaicin or resiniferatoxin. Likewise, their dorsal root ganglion neurons do not display calcium channel activitation in response to low extracellular pH
Mice exhibit a lean phenotype with reduced fat mass and smaller adipocyte size compared to wild type mice. Adipose tissue exhibit decreased levels of lipogenic genes, such as fatty-acid synthase (FASN), acetyl-CoA carboxylase (ACACA) and diacylglycerol O-acyltransferase-2 (DGAT2). Mice exhibit strongly inhibited age-related hepatic steatosis and decreased number of inflammatory cells in epididymal adipose tissue
Morphant larvae have a strikingly smaller head compared with controls, a mild degree of edema surrounding the eyes, and a significant decrease in head/body length ratio. The eye size is significantly decreased in the morphants compared with controls
Defect in vacuolar trafficking
Depletion of clrn2 using CRISPR-Cas9-mediated gene editing induces reduced response after sound stimulation. Furthermore, clrn2 crispants show disrupted hair bundle structure and fewer hair cells compared to controls
Increased tillers and reduced plant height, reduced levels of strigolactone
Morpholino knockdown of the protein results in impaired heart and skeletal muscle development
Despite normal fertility, impaired pollen coat exine pattern formation with reduced sporopollenin levels (PubMed:29390074). Plants lacking both SEC23A and SEC23D are semi-sterile and exhibit developmental defects in pollen (especially at the late uninucleate stage) and tapetal cells, including defective exine and intine, as well as signs of cell degeneration and structural abnormalities in organelles of the male gametophytes (PubMed:29390074)
Viable, but sterile. Defective extension of body wall muscle connections or arms towards the ventral nerve cord. Reduced expression of the late endosome marker rab-7, and the eva-1 and unc-40 receptors, which are expressed in muscles, and impaired recruitment of madd-4 to the muscle membrane. Double knockout with cup-5 results in increased expression of the eva-1 receptor and rab-7 positive endosomes. Double knockout with eva-1, gex-2, madd-2, madd-4, mkk-4, unc-15, unc-60, unc-93 or unc-98 results in severe muscle arm extension defects as compared to the single knockouts. Double knockout with proteins involved in the p38 MAPK signaling pathway including cebp-1, mak-2, pmk-3 or sek-3 suppress the muscle arm extension defects and eva-1 expression defects in the madd-3 single knockout. Double knockout with dlk-1 also suppresses the eva-1 expression defect, but does not suppress the muscle arm extension defects in the madd-3 single knockout. Double knockout with cebp-1, mak-2 or pmk-3 restores the defect in the recruitment of madd-4 to the muscle membrane in the madd-3 single knockout. Furthermore, double knockout with pmk-3 restores the reduced rab-7 expression level defect in the madd-3 single knockout. Double knockout with unc-54 results in lethality. Triple knockout with unc-54, and either cebp-1, dlk-1, mak-2, pmk-3 or sek-3 results in paralysis (as in the unc-54 single knockout), and suppresses the lethality phenotype in the double madd-3 and unc-54 mutant
Mutant does not activate PA to PA-CoA but can completely catabolize all molecules that synthesize PA-CoA through other routes
Mice show severe defects in osteoblast mesenchymal cells to compaction, proliferation, differentiation, and mineralization and to a delay in bone nodule formation. Suffer also from an excessive microvessel growth
Survival of the spt-deficient mutant is much reduced, in comparison with wild type, during stationary phase of growth, especially at elevated temperatures (PubMed:33063925). Mutants are resistant towards the antibiotic polymyxin B (PubMed:33063925). Mutation causes hypersensitivity to antibiotics which affect disparate processes in different cellular compartments (PubMed:33063925)
Deletion mutant shows a clear reduction in E. coli killing and a lack of ability to secrete Hcp1, VgrG1a as well as Tse3
Mice develop a slowly progressive retinal degeneration, characterized by mottling in the fundus, mild thinning of the photoreceptor layer, and increase in apoptosis as early as 6 months, dramatic acceleration at approximately 17 months, and virtual obliteration of the photoreceptors by 20 months. Phenotypes are due to defects in protein trafficking, such as Gnat1 mislocalization
Deletion mutant shows growth deficiency in medium supplemented with nitrate
RNAi-mediated knockdown shows aberrant neuromuscular junctions in the larval muscle and abnormal wings, locomotive defects and a shortened lifespan in the adult fly. RNAi-mediated knockdown in the nervous system results also in aberrant neuromuscular junctions characterized by reduced number of type Ib boutons and increased bouton size in the larval muscle
Shows twitching motility, but the speed of the twitching movement is three times slower than wild-type on a glass surface against the flow direction of media. Mutant cells also move more sporadically with frequent stop intervals. Forms T4P (PubMed:17693510, PubMed:17322192). Not impaired in attachment to surfaces or biofilm formation (PubMed:25217013)
Mice lacking both Gja12 and Gjb1 display a severe demyelination phenotype associated with oligodendrocyte death. These mice develop action tremors, tonic seizures, sporadic convulsions and loss of consciousness preceding death in the sixth week after birth
Altered response to abscisic acid (ABA)
Deletion mice have increased eosinophilic inflammation and splenomegaly (PubMed:29305434). In addition, mice show exacerbated effects of IL33 administration, including increased immune cell infiltration in the peritoneum with expanded eosinophil and ILC2 populations, and reduced circulating and peritoneal sST2 (PubMed:34789557)
Reduced plant height and length of tracheary elements in the stem
Mice display impaired migration of superficial layer cortical neurons with neurons found deep in the cortical plate or beneath it
Knockout mice fail to form retinal disk structures, resulting in an absence of the photoreceptor outer segment (PubMed:6715580). At postnatal day 14 the photoreceptor inner segment is stunted and at postnatal day 21 shows disorganization and cell lysis in addition to outer nuclear layer degeneration resulting in a gradual decline in photoreceptors (PubMed:6715580). At postnatal day 21 mice show progressive thinning of the outer plexiform layer and disorganization of the photoreceptor synaptic termini (PubMed:6715580). Adult knockout mice show a reduction in the thickness of the retinal outer nuclear layer, and a decrease in Rom1 protein abundance in the retina (PubMed:29961824)
Plants exhibit a 50% reduction in tonoplast Ca(2+)/H(+) exchange activity, a 40% reduction in tonoplast V-type H(+)-translocating ATPase activity, a 36% increase in tonoplast Ca(2+)-ATPase activity and an increased expression of CAX3 and CAX4. These plants exhibit altered plant development, perturbed hormone sensitivities, altered auxin signaling response, lower sensitivity to other metal ions and increased freezing tolerance after cold acclimation
Animals are sterile and develop slowly. Excretory canals are approximately 45% shorter and are characterized by a discontinuous and wider lumen, the presence of cysts and an increased number of canalicular vesicles which are swollen. These defects start during the L3 larval stage and become more severe when reaching adulthood. In addition, cdc-42 expression levels and activity are reduced along the excretory canal length. Animals have also a reduced distribution of Golgi and ER components along the excretory canals
In contrast to the disruption of ERG24B, does not affect sensitivity to amine fungicides
Impairs the production of monodictyphenone, but still enables the synthesis of intermediates until emodin (PubMed:20139316, PubMed:21351751). Results in major accumulation of chrysophanol and its 6-hydroxymethyl shunt product aloe-emodin (PubMed:22730213)
RNAi-mediated knockdown leads to developmental arrest at larval stage L1
Impairs the production of ochratoxin alpha, ochratoxin beta, and ochratoxin A (PubMed:27959549)
Death between 12.5 dpc and 15.5 dpc probably due to impaired liver and embryonic development
Results in altered glycerophosphocholine catabolism (PubMed:24114876). Leads to hypersensitivity to 5-fluorouracil (5-FU) (PubMed:17604452)
Disturbed benzenoid scent profile in flowers characterized by a decreased emission of benzylbenzoate, phenylethylbenzoate, and methylbenzoate
From 28 hours post-fertilization (hpf) onward, embryos show an anterior-posterior gradient of pigmentation defects. While the head is fully pigmented, more posterior regions are decreasingly pigmented until midtrunk levels, where pigmentation is not detectable. Melanophores are present at midtrunk levels and migrate correctly, but are not properly pigmented. Embryos show severe reduction in pigmentation and widespread degeneration from 48 hpf onward. Failure to form perinotochordal basement membrane (PBM), without the loss of laminin immunoreactivity. Embryos are significantly shorter, because the notochord cells fail to differentiate and the notochord fails to lengthen properly. Vacuoles fail to inflate fully. Many notochord cells die by apoptosis. In 32 hpf embryos the endoplasmic reticulum is abnormally swollen and filled with a relatively electron dense material and the Golgi complex is fragmented into large vesicles throughout the cytoplasm. PBM is thin, disorganized and essentially lacks the medial layer. However, cells have a distinctive inner layer
Severely impaired growth at 32 degrees Celsius
In snc2-5 and snc2-8 mutants, impaired basal resistance to P.syringae pv. tomato DC3000 leading to increased susceptibility
Deletion of this gene, or the entire CPS-53 prophage, reduces viability under oxidative stress
Viable until at least 11 months of age under unstressed conditions, and develop progressive muscle pathology with age. Mice show progressive myopathy and reduced exercise capability, associated with defective membrane-repair capacity
Mice exhibited no impaired function of motile cilia or non-motile cilia
Pre-cellular embryos exhibit abnormal nuclear divisions with frequent loss of chromosome fragments. During cellularization, apico-basal polarity is also disrupted
Mutant lacking this gene shows very high expression of the glnK and nac promoters in nitrogen-starved cells, and has a severe defect in the growth rate recovery in ammonia after nitrogen starvation
Leads to hypersensitivity to cycloheximide (PubMed:16078083). Leads to an 8- to 16-fold increase in fluconazole susceptibility (PubMed:16569856, PubMed:16803598, PubMed:28700656). Leads also to increased rhodamine accumulation (PubMed:16569856)
Deletion of the gene impacts growth in iron-depleted media. Mutant accumulates staphyloferrin A in the cytoplasm. Does not affect staphyloferrin B levels
Deletion of the gene leads to strong reduction of histidine uptake
Morpholino knockdown results in severe defects during epiboly with most embryos arrested at 60-80% epiboly
Loss of trehalose-2-sulfate (T2S) formation
Phosphatidylinositol dihydroceramide (PI-DHC) is absent (PubMed:35080445). Levels of inositol phosphoceramide (IPC) are severely reduced and ceramide levels are increased (PubMed:35080445). Results in a mild growth defect (PubMed:35080445, PubMed:35725777). Abnormal RNA level of genes involved in carbohydrate degradation (PubMed:35725777). Does not appear to affect production of outer membrane vesicles (OMVs) or OMV cargo selection (PubMed:35080445)
Mice are darker and display a uniformly gray coat color, rather than the expected agouti coat color (PubMed:29025994). Coat color change is caused by a lack of pheomelanin, resulting in white, rather than yellow, banding of hairs (PubMed:29025994)
Dwarf phenotype, necrotic lesions and a constitutive hypersensitive response to salicylic acid induction
Overcome the lack of synaptogenesis caused by the loss of rpm-1 ubiquitin ligase activity (PubMed:17698012). Defects in axonal microtubule development (PubMed:19164707, PubMed:23000142). Double knockout with dlk-1 also suppresses the eva-1 receptor expression defect in the madd-3 single knockout (PubMed:27123983). Triple knockout with madd-3 and unc-54 results in paralysis (as in the unc-54 single knockout), and suppresses the lethality phenotype in the double madd-3 and unc-54 mutant (PubMed:27123983)
Minor fimbriae are longer than normal and are easily detached from the cell by mild shear stress
RNAi-mediated knockdown positively modulates lifespan; effect abolished in hsf-1 mutant background (PubMed:22265419). Increases resistance to both heat and oxidative stresses (PubMed:22265419). Increases localization to the nucleus and also DNA binding activity of heat-shock transcription factor hsf-1 both before and after heat shock (PubMed:22265419). Increases in transcript levels of heat-shock protein genes sim-1, hsp-70, hsp-16.2 and F44E5.5 after heat shock, but not in unstressed conditions (PubMed:22265419). May also increase levels of post-translationally modified hsf-1 under heat stressed and unstressed conditions (PubMed:22265419)
Shows increased sensitivity to the N-glycosylation inhibitor tunicamycin and leads to a significant attenuation of the virulence on tomato plants (PubMed:26487566). Accumulates significantly less fungal biomass in infected plants and leads to significant decrease in secretion of PG1, the major endopolygalacturonase produced during the infection of tomato plants (PubMed:26487566)
Constitutive activation of stress-induced jasmonate-dependent responses and increased antifungal resistance to Botrytis cinerea (PubMed:28760569). The quadruple mutant jox1, jox2, jox3 and jox4 exhibit reduced root and shoot growth, delayed flowering, reduced seed production, constitutively elevated jasmonate and jasmonoyl-L-isoleucine levels, and enhanced resistance to the necrotrophic fungal pathogen Botrytis cinerea and the herbivorous caterpillar Mamestra brassicae (PubMed:28559313). No visible phenotype under normal growth conditions, but mutant seedlings have increased tolerance to the cytotoxic compound phenanthrene
Strongly decreases the production of 15-deoxyoxalicine B
25% decrease in glr-1 expression in the ventral nerve cord. Changed locomotion behavior with mutants displaying decreased reversal frequencies consistent with decreased glutamergic signaling
Leaf-variegated. Mutations can be complemented by overexpression of FTSH1. The presence of both FTSH1 or FTSH5 (subunit type A) and FTSH2 or FTSH8 (subunit type B) is essential for an active complex formation
Gpr52 knockout mice are normal in body and brain weight. In the open field test, mice stay and move around the central zone significantly longer. The total distance traveled and brain morphology are normal. Mice are much more sensitive to the startle response following dizocilpine administration. Thus mice displayed psychosis-related behaviors (PubMed:24587241). Mice exhibit a significantly higher istradefylline-induced locomotor activity (PubMed:28583861)
Disruption of this gene induces a loss of the ability to utilize acetate as a carbon source for growth or sporulation
Pank1 single knockout mice exhibit reduced hepatic CoA levels, a reduced rate of CoA-dependent fatty acid oxidation in the fasting state, impaired gluconeogenesis, and mild hypoglycemia in the fasting state (PubMed:20559429). Show a reduction in pantothenate kinase (PANK) activity of about 50% and 40% in the liver and brain respectively (PubMed:22815849). Pank1 and Pank2 double knockout mice develop progressively severe hypoglycemia and hyperketonemia by postnatal day 10 leading to their death by day 17 (PubMed:22815849). A reduction in PANK activity of about 90-95% seen in the liver and brain and hepatocytes show reduced levels of NADH (PubMed:22815849)
Shortened defecation cycle length with change in periodicity of the cycle. Expulsion defective with distended gut and lack of enteric muscle contractions due to lack of exp-1 expression
The production of sorbicillinoids shifts mostly towards tetrahydrobisvertinolon (PubMed:28618182)
Morpholino knockdown results in severe defects in primordial germ cell development, leading to a reduced number of cells and to migration defects, while development of the soma remains largely unaffected
Dwarf, narrow leaf and small grain phenotypes
Reduced virulence in susceptible rice; its introduction into a deletion mutant restores virulence to the bacteria in rice plants. No longer induces SWEET11 (Os8N3, XA13, AC Q6YZF3)
Offspring number is low at birth (PubMed:19483677). After birth, pups have growth retardation and die within 10 days (PubMed:19483677). At 15.5 dpc, levels of trimethylated 'Lys-36' on histone H3 are reduced (PubMed:19483677). At 18.5 dpc, embryos are smaller with midline fusion defects due to a lack of ossification centers and some have cleft palates (PubMed:19483677). They also have heart defects including atrial and ventricular septal defects (PubMed:19483677). Conditional knockout in CD4(+) T-cells, reduces dimethylation of histone H3 at 'Lys-36' at the Bcl6 gene locus in response to T-cell activation which results in impaired Bcl6 expresseion (PubMed:31636135). Following immunization with ovalbumin antigen or sheep red blood cells, or infection with LCMV virus, follicular helper T (Tfh) cell differentiation and germinal center B cell response are reduced (PubMed:31636135). Also, following infection with LCMV virus, clearance of the virus is delayed (PubMed:31636135). No defect in T-cell development (PubMed:31636135)
Increased embryonic cuticule permeability. Altered cotyledon development. Cup-shaped cotyledons
Conditional knockout in pancreas causes mild glucose intolerance (PubMed:18713856). Insulin secretion by islets of Langerhans cells is reduced (PubMed:18713856). In islets of Langerhans cells, processing of pro-proteins including Pcsk2, Ins2/proinsulin II and Gcg/proglucagon and acidification of dense-core secretory granules are reduced (PubMed:18713856). Islets of Langerhans are normal (PubMed:18713856)
Pleiotropic phenotype with diverse growth defects and early flowering. Enhanced ethylene response and sensitivity to cold stress. Reduced EDS1 expression and enhanced susceptibility to virulent Pseudomonas bacteria and oomycete pathogens. Accumulation of nuclear poly(A)+ RNA and high-molecular weight SUMO conjugates
Significant loss of extracellular active lipase (lip). Not required for growth on oleic acid as a carbon source (PubMed:8412704). Cells can translate lipase; while its signal peptide is processed, it is not secreted (PubMed:8412705)
Pale green phenotype. Mutant plants have low levels of chlorophyll, show quick water loss and fail to accumulate ABA under drought
No visible phenotype under normal growth condition, but decreased accumulation of iron in the root and increased accumulation in the shoot when grown under high iron concentration
Plants are overall smaller with a reduced number of flowers and siliques and display a glucose-insensitive phenotype which allows them to grow on high glucose concentration medium (>6% glucose)
Mice are viable and fertile (PubMed:15800625). Significantly increased mass of brown adipose tissue (PubMed:28702327). Delayed virus clearance and compromised T cell migration during viral infection (PubMed:27855162). No effect on VCAN cleavage in embryonic skeletal muscle, potentially as a result of participation by other proteinases, but absence of VCAN cleavage and greater number of centrally located nuclei in postnatal skeletal muscle (PubMed:23233679)
Cells lacking this gene show no motility changes on swarm plates; however in combination with an amidase deletion (lytC, AC Q02114) greatly reduced motility is seen
RNAi-mediated knockdown results in delayed cell cycle progression
Homozygous mice have tremors and a propensity to develop spastic movements upon handling
Cells lacking this gene are unable to grow on sucrose and fructose. Severe reduction of the growth rate on glucose, galactose and maltose are observed
Mutants are impaired for growth at high osmolarity in brain heart infusion broth, fail to grow in a defined medium and show no detectable carnitine uptake
Mice die at birth but embryos display altered brown adipose tissue differentiation
Increased trimethylation of 'Lys-20' of histone H4
No visible phenotype under normal growth conditions, but the double mutant seedlings gtl1-1 and df1-1 exhibit increased root hair length (PubMed:29439132). Reduced amount of seed coat mucilage (PubMed:22735692, PubMed:25658798)
Delayed germination (PubMed:11340190). In young seedlings, excessive numbers of root hairs, abnormal raised cotyledons, elongated hypocotyls, and elongated cells in the hypocotyl (PubMed:11340190, PubMed:26574597). Defects in rosette leaf and inflorescence development (PubMed:26160044)
Worms exhibit slow and retarded growth, reproductive and molting defects, defects in embryogenesis, and hypersensitivity to cholesterol limitation (PubMed:12905072). Increased polarity and tubulogenesis defects in an allelic series of let-767 (PubMed:21926990)
Leads to abnormal cellular complex sphingolipid levels (PubMed:36897280). Simultaneous knockout of SVF1 to leads to myriocin sensitivity (sphingosine biosynthesis inhibitor) (PubMed:36897280)
Cells lacking this gene show little or no difference in growth under copper deprivation, whereas possessing enhanced growth under copper excess conditions. Possesses a high intracellular content of copper
Leaf expansion defects, early flowering, low fertility, and increased salt (NaCl) sensitivity. Produces shorter hypocotyls than wild-type plants in the light, but not in the dark
Not essential. Deficient in endogenous antibiotic synthesis, able to form a sporulating aerial mycelium. Accumulates a 30S rRNA precursor transcript. Leads to increased expression of pnp due to increased transcript levels
Knockout mice are viable (PubMed:25416279). Knockout mice at one month of age show loss of nearly all cone photoreceptors in the central and ventral retina (PubMed:25416279). Surviving cone cells show severe degeneration, the dorsal retinal also exhibits a significant reduction in cone photoreceptors (PubMed:25416279). At one month of age rod photoreceptors show shorter outer segments (PubMed:25416279). Nearly all cone photoreceptors are lost by six months of age (PubMed:25416279). Remaining cone cells show disrupted structures with the majority showing abnormal cell bodies or lack of an outer segment (PubMed:25416279)
Morpholino knockdown of the protein produces a dose dependent typical ciliopathy phenotype, with ventrally curved body axis, hydrocephalus, abnormal otoliths and small eyes. The few embryos surviving to 4 days post fertilization display severe generalized edema, pronephric cysts, and defects of the craniofacial cartilage
Hyperpiliated and hyperadherent
Viable, but some animals exhibit sterile and lethal phenotypes including hermaphrodite sterility, embryonic lethality and larval arrest (PubMed:7958868). Defective ovulation and terminal differentiation of oocytes, which result from a delay or an inability to complete meiosis during oogenesis (PubMed:7958868, PubMed:9405097). Defects in gonadal migration (PubMed:7958868). Defective sheath cell differentiation in terms of cell shape and position and defective functions which include weaker sheath cell contractions (PubMed:9405097). Abnormal hypodermal cell differentiation (PubMed:7958868). Defective MAPK activation in oocytes in the presence and absence of sperm (PubMed:12533508). RNAi-mediated knockdown reduces survival following fungal infection by D.coniospora (PubMed:30036395)
No increased sensitivity to hydroxyurea
RNAi-mediated knockdown at the bloodstream life cycle stage causes cell growth arrest followed by death. Putrescine levels are increased and the production of spermidine, glutathione, glutathionyl-spermidine and trypanothione is severely reduced. In addition, protein expression levels of ornithine carboxylase (ODC) are increased
Mutant shows increased biofilm formation as compared to the wild type. Mutation decreases plant root colonization
Deletion results in decreased expression and abundance of secreted proteases, hemolysins and toxins, as well increased production of surface associated proteins (PubMed:30833334). A subsequent drastic reduction in proteolysis, hemolysis and pigmentation is observed (PubMed:30833335). In turn, virulence is attenuated (PubMed:30833334, PubMed:30833335)
Deletion results in decreased cAMP, surface piliation, and twitching motility (PubMed:20345659, PubMed:27354279). Supplementation of pilG mutant with exogenous cAMP restores surface piliation but not twitching motility, suggesting that PilG regulates pilus biogenesis and function by at least two pathways (PubMed:20345659)
Causes a block in ER to Golgi transport. Exhibits exaggerated ER structures displaying interconnected networks of ER cisternae. Cells arrest at all stages of the vegetative cycle
ric1-null mutant larvae show micrognathia, small head, shortened trunk, and short, kinked pectoral fins. Craniofacial cartilage elements and newly formed ossification centers are present but they are malformed and smaller than in wild-type controls. Chondrocytes of mutant fishes retain procollagen II intracellularly in large inclusions
Increased amounts of maltotriose and leaf starch
Impaired growth of roots and shoots (PubMed:18344284, PubMed:23667493, PubMed:28434950). Roots devoided of the characteristic trans-Golgi proliferation of slime vesicles containing polysaccharides and enzymes for secretion (PubMed:18344284). Aberrant trichome expansion, reduced primary root growth and longer root hairs (PubMed:19566596, PubMed:28434950). Impaired pollen growth (PubMed:19566596, PubMed:23667493, PubMed:28434950). Impaired ovule development (PubMed:23667493, PubMed:28434950). Reduced adaptability to temperature stresses (PubMed:23667493). Abnormal accumulation of ABCG36/PEN3 in endomembrane compartments, likely in the trans-Golgi network, instead of plasma membrane (PM), due to an impaired endocytic trafficking of the ABCG36/PEN3 transporter, thus causing delays in ABCG36/PEN3 recruitment to the host-pathogen interface upon infection by powdery mildews (e.g. Blumeria graminis) within papillae and in response to pathogenic bacteria (e.g. Pseudomonas syringae) or pathogen-associated molecular patterns (PAMPs) (e.g. flg22 and chitin) (PubMed:28434950)
Mutants are hyperfimbriate, retain surface pili but have lost twitching motility (PubMed:7854122). In a mouse model of acute pneumonia, a decreased colonization of the liver is observed but not of the lung relative to the parental strain (PubMed:10377148)
Hyperaccumulates ribose 1-phosphate and upstream purines upon glucose-induced purine nucleoside recycling
The growth rate of the phyR deletion strain is the same as in the wild-type strain when plant colonization is mimicked in vitro in the presence of succinate and methanol. However, in planta colonization experiments show a severe growth defect of the phyR deletion mutant
Mice are born at the expected Mendelian rate and have no visible phenotype at birth. Adult mice display abnormal leukocyte recruitment to inflamed tissues, hypersensitivity of T cells to agonists that activate T cell receptors, an age-related decrease in the cellularity of kidney glomeruli and a tendency to develop proliferative glomerulonephritis, plus defective nurturing behavior (PubMed:10700233, PubMed:11217864). Mutant mice show increased responsiveness to treatments that cause delayed-type hypersensitivity (PubMed:11217864). Mice show increased incidence of autoimmune encephalomyelitis in response to injections with MBP (PubMed:11217864). Transgenic mice that express polyomavirus middle T antigen develop mammary tumors; 50% of female wild-type mice have detectable tumors after 16 weeks, but it takes 24 weeks until 50% of the female mice that lack Mgat5 develop mammary tumors. Male mice that express polyomavirus middle T antigen develop mammary tumors after 6 to 9 months; males that lack Mgat5 develop tumors after 10 to 13 months. Formation of lung metastases is about 5% of wild-type (PubMed:10700233). Tumor initiation is not decreased in mice that lack Mgat5, but tumor growth is strongly decreased (PubMed:10700233). Tumor cells from mutant mice show impaired membrane ruffling, probably due to decreased activation of phosphoinositide-3-kinase (PI3K) (PubMed:10700233). Embryonic fibroblasts from Mgat5-deficient mice display increased Cdh2-mediated cell-cell adhesion (PubMed:14561752). Mutant mice that lack both Mgat5 and Mgat5b display no visible changes in brain anatomy, but their brains display defective biosynthesis of both O-mannosyl glycans and N-linked glycans (PubMed:22715095)
TRIM26 attenuatess the production of proinflammatory cytokines in response to TLR ligands, TNF-alpha, and IL-1beta stimulation. In addition, the challenge of TRIM26-deletion mice with LPS results in inflammatory responses that are less lethal than those in wild-type mice
Embryonic lethality, with its severity depending on genetic background of the mice: embryonic lethality becomes more severe with higher degrees of genetic background purity (PubMed:28169274). Knockout mice are small in body size. They have compromised T-cell proliferation and differentiation into Th1 and Th17 cells, increased T-cell apoptosis, reduced severity of experimental autoimmune encephalitis, and defective immune responses to lymphocytic choriomeningitis virus infection. They develop adrenal gland hyperplasia in old age (PubMed:28169274)
Reduced cytosolic and mitochondrial aconitase (ACO) activities by 25 and 55 precent, respectively (PubMed:17013749, PubMed:17437406). Increased tolerance to oxidative stress mediated by paraquat, a superoxide-generating agent (PubMed:17013749). Delayed early seedling growth, altered assimilation of acetate feeding and elevated citrate and malate levels (PubMed:25061985)
Cells lacking this gene have a growth defect with an increased generation time compared to wild-type. Nucleoid defects. 13.9% of the cells are anucleate. No effect on capsule production and polymerization. Deletion of this gene does not impact the cell morphology in a permanently autophosphorylated CpsD mimick mutant. In contrast, the deletion of this gene suppresses the elongated phenotype of the autophosphorylation defective CpsD mimick mutant cells
Cells form longer chains and sparse microcolonies, are more resistant to phagocytosis, show greater level of platelet aggregation, but are unable to form biofilm at least in vitro
Results in undivided strings of cells and growth arrest after approximately 5 division cycles
Loss of secretion of EsxA and EsxC but not their expression (PubMed:27130157)
No effect on propagation of phage Sf6 (PubMed:22386055). Upon infection with phage Sf6, single deletion mutant has a wild-type level of small plaques but a better than wild-type survival level; double ompA-ompC deletions have about 10-fold fewer plaques and survive infection considerably better than wild-type, are infected more slowly and have fewer extracellular vesicles associated with mature bacteriophage (PubMed:24673644)
Decreased mannose phosphorylation of lysosomal acid hydrolases, craniofacial and cardiac defects. Impaired development of pectoral fins and otic vesicles. Craniofacial defects are due to changes in the timing and localization of both type II collagen and sox9 expression, suggestive of an accelerated chondrocyte differentiation program. Increased level of active cathepsin K (ctsk) 3 days post-fertilization (dpf) because of abnormal processing and activation, leading to morphologic cartilage defects
No visible phenotype under normal growth condition. Not able to grow with methylthioadenosine (MTA) as unique source of sulfur
Viable and fertile, however flies display a decrease in extracellular sound-evoked potentials. This hearing defect is likely due to the increased levels of phosphatidylinositol 4,5-bisphosphate (PtdIns 4,5-P2) in the ciliary base that results in the abnormal localization of membrane proteins such as ktub, iav and nompC. Expression of ktub in the cilia is decreased and displays abnormal accumulation inside chordotonal cilia, iav is enriched in the ciliary base, and nompC which is typically found in the distal cilia, is slightly mislocalized towards the proximal cilia and its expression is decreased. However there is no effect on the localization of eys
RNAi-mediated knockdown in the nervous system results in a held-up wing phenotype after eclosion and upon carbon dioxide stimulation
Defective embryo arrested at globular stage
Worms are defective in osmotic avoidance, chemotaxis and dauer formation
Mice are healthy and fertile, but show an accumulation of prenylcysteines within cells (PubMed:12151402). Significant accumulation of both farnesylcysteine and geranylgeranylcysteine in the brain and liver (PubMed:12151402)
Cells lacking this gene show slow growth in MM, and the addition of isoleucine or citramalate restores the growth of the mutant
Pupal lethal. Most mutants die just before emergence from the pupal case. In mutant larval CNS, neuroblasts show bipolar spindles that may lack one or both centrosomes or monopolar spindles having one or two centrosomes at the single pole. The mitotic index is elevated twofold over that in wild-type larval brains and the ratio of metaphase:anaphase two- to threefold over wild-type. Mutant neuroblasts also show a decrease of 25% in betaTub56D/tubulin beta chain-1 expression. Mutant mature primary spermatocytes show impaired MT network resulting in meiotic spindles either absent or highly abnormal. In mutant testis, decreased expression of betaTub85D/tubulin beta-2 chain is observed
Plants homozygous for the rid2-2 or rid2-3 mutation are lethal (PubMed:21401745). Exhibits pointed leaves. Plants with double mutations in this protein and in AS2 have short filamentous leaves at high temperatures (PubMed:27334696)
Not essential for growth in culture. Upon disruption about 260 genes show significantly decreased expression while about 200 showed increased expression. BALB/c mice infected with the disruption mutant showed a moderate but significant decrease in virulence, surviving about 30% longer than wild-type
No visible effect on nucleoid structure during anaerobic growth by whole cell staining. Sensitive to atmospheric O(2) levels, at 2% O(2) no difference in growth up to 14 days; required for adaptation to anaerobiosis, at 21 days nearly 1000-fold decrease in survival under anaerobic conditions. Consumes O(2) more rapidly. Has a significant lag in recovery from 7 or 14 days anaerobic growth. Decreased virulence in lungs of BALB/c mice; no visible lung disease at any time point. Increased sensitivity to reactive nitrogen species, not more sensitive to H(2)O(2) or mitomycin (PubMed:24895305)
No visible phenotype, but macrophages have impaired phagocytosis. Mice lacking both HCK and FGR are extremely sensitive to infections by L.monocytogenes
Cells lacking this gene fail to synthesize ppGpp in response to starvation
Enlarged sterile lemma in florets of the spikelet, caused by homeotic transformation of the sterile lemma into a lemma. Elongated empty glumes, which mimic the lemmas and have the epidermal morphology of lemmas with four or five vascular bundles
Reduces sidC and sidG expression, slightly increases gliotoxin production, decreases growth in iron starvation conditions and leads to reduced conidiation at 44 degrees Celsius (PubMed:25943523). Reduces the production of pyripyropene A, fumagillin, fumiquinazoline A, triacetyl-fusarinine C, and helvolic acid (PubMed:28753224). Abolishes virulence in a neutropenic murine model of invasive pulmonary aspergillosis (PubMed:28753224)
Mutant mice are indistinguishable from wild type until about 1.5 months of age, when they begin to show intention tremor, followed by gait ataxia. At this stage, neurons exhibit axonal swellings, which consist of the accumulation of disorganized neurofilaments and microtubules, mitochondria and vesicles. In later stages, mutant animals suffer from episodes of spontaneous generalized seizures, a phenotype caused by progressive loss of Purkinje cells through apoptosis. At 4 months of age, retinas in mutant mice display decreased thickness of the inner nuclear layer and a reduced number of ganglionic cells. The outer plexiform layer is also reduced, whereas the size of the photoreceptor layer is not altered (PubMed:18687884). In addition, TRIM2-knockout mice are also more susceptible to infection with new world arenaviruses (PubMed:30726215)
Morpholino knockdown results in defects in eye development and reduction of cell density at the neurula stage. Co-knockdown of nemp1a/b and ran elicits reduction of cell density and eye defects more significantly than the individual knockdown of either one
No visible phenotype under normal growth conditions, but mutant plants have reduced starch content in leaves
Mice show impaired antigen-dependent germinal center formation and B-cell antigen receptor (BCR) signaling. The number of mature B-cells is reduced
No visible phenotype under normal growth conditions, but mutant plants show enhanced tolerance to osmotic and salt stresses
RNAi-mediated knockdown is larval lethal (PubMed:31175694, PubMed:31125351). RNAi-mediated knockdown in adults results in the thoracic muscles displaying abnormally orientated fibers as well as an abnormal increase in mitochondrial fusion resulting in mitochondrial dysfunction in ATP production, ROS generation and cell apoptosis (PubMed:31125351). Consequently, adults display a held-up wing phenotype, are unable to fly and also display defects in locomotion (PubMed:31125351). RNAi-mediated knockdown in salivary glands also results in an increase in mitochondrial fusion (PubMed:31125351). RNAi-mediated knockdown in the trachea results in arrested development at either the first or second instar larval stage (PubMed:31175694). In addition the larvae display tracheal defects, such as tracheal breaks and lumen separation, and prematurely wander away from food (PubMed:31175694)
Gross morphology and brain structure are normal. Behavioral assays of locomotory activity, exploratory behavior and motor coordination are also normal. However, some subtle behavioral defects are observed: anxiety levels are decreased and animals also show mild defects in odor discrimination. Electrophysiological assays of striatopallidal synapses indicate defects in short-term synaptic plasticity
Increased tolerance to high salinity with reduced reactive oxygen species (ROS) levels and associated with an over-activation of nuclear salt stress-responsive genes
Longer circadian period. Severely dwarfed and infertile when homozygous
(Microbial infection) No significant resistance against peanut stripe virus (PStV) (PubMed:28344571). Plants lacking both eIF4E and eIF(iso)4E exhibit an increased resistance against PStV (PubMed:28344571)
Impairs the production of asparasone A (PubMed:24412484)
No visible phenotype (PubMed:18980662). Slightly short inflorescence and reduced fertility (PubMed:18980649)
No effect on the response to the aversive chemical stimulus octanol or to volatile attractants (PubMed:15157420). Behavioral adaptation to prolonged exposure to isoamyl alcohol or benzaldehyde is impaired (PubMed:15878875). Recovery of chemotaxis from odorant-induced adaptation is impaired (PubMed:15878875). Moderate reduction in chemotaxis towards volatile attractant diacetyl but not towards isoamyl alcohol and benzaldehyde (PubMed:15878875). Slight defect in egg-laying (PubMed:15878875). Increased lifespan and nuclear localization of daf-16 (PubMed:20207731). Reduced lifespan in a daf-16 (mu86) mutant background or in a mpz-1 RNAi-mediated knockdown background (PubMed:20207731)
RNAi-mediated knockdown in the whole body or in the prothoracic gland results in delayed or absent pupariation
Leaf reticulation, mild leaf folding, early flowering and aborted or unfertilized ovules in siliques (PubMed:24244708). No stunted growth or enhanced resistance to pathogens (PubMed:25966763)
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Reduces strongly the production of deoxynivalenol (DON), an important virulence determinant (PubMed:28894236)
Worms exhibit temperature-dependent arrested elongation of gonadal arms. Mutants raised at 25 degrees C show reduced numbers of descendants of the gonadal precursors Z1 and Z4, while mutants raised at 15 degrees C show wild type gonadal development. Vulval defects are also temperature sensitive. Mutants grown at 20 degrees C showed protruding vulva (80%) and some had pseudovulvae (15%). At 15 degrees C, fewer mutants exhibited everted (36%) or additional small vulvae (7%)
No visible phenotype; due to the redundancy with other FAF genes
Severed rtp null axons show significantly reduced and delayed axonal degeneration following axotomy whereas wild-type axons degenerate within the first 24 hrs (PubMed:22496551). Rtp-null mutant flies exhibit age-dependent impairment in the termination of phototransduction in the retina (PubMed:20739554). Photoreceptors show a conspicuously high level of spontaneous dark noise (PubMed:20107052)
Abolishes the production of elsinochrome C
Leads to osmosensitivity
Deletion of the pcrA gene abolishes anaerobic growth in both perchlorate and chlorate but not in nitrate, indicating that the pcrABCD genes play a functional role in perchlorate reduction separate from nitrate reduction. Deletion mutant strains are still able to grow aerobically
Deletion of 3 type IV toxin genes (cbtA, ykfI, ypfJ) leads to a slight reduction in resistance to oxidative stress, has no effect on cell growth
Semi-dwarf phenotype. Stunted growth characterized by reduced leaf petiole lengths and small leaves. Altered responses to brassinosteroid (BR)
Knockout mice die before hair formation. They exhibit cleft palate and either a sublingual or completely absent thyroid gland and show neonatal hypothyroidism
Conditional knockout in tachyzoites results in a severe defect in the lytic cycle due to a failure to invade and egress host cells (PubMed:28898199). Specifically, exit from the host cells upon both natural and induced egress is delayed, and parasites are trapped in spherical detached host cells, eventually rupturing the host cell membrane (PubMed:28898199). Secretion of rhoptry content and processing of several rhoptry proteins, including ROP1 and ROP13, are impaired (PubMed:28898199). Microneme secretion is normal; however, processing of several microneme proteins, including M2AP, MIC3 and MIC6, is impaired (PubMed:28898199). Also, post-exocytosis processing of protease SUB1 is impaired. Parasite intracellular growth, parasite attachment or gliding motility are not affected (PubMed:28898199). Mitochondrion and apicoplast morphology is normal (PubMed:28898199)
Embryos do not show centriole duplication defects, are viable, and develop into fertile adults, but only 10% of the normal number of ciliated neurons are observed
RNAi-mediated knockdown results in up-regulation of the transcription factor zip-10 and its downstream target asp-17
Plants missing both SOLF1 and SOLF2 have reduced endogenous cytokinin levels and accumulate lower levels of trans-zeatin riboside monophosphate (tZRMP) and N(6)-(Delta(2)-isopentenyl)adenosine monophosphate (iPRMP), biosynthetic intermediates of bioactive cytokinins as well as decreased response to exogenous cytokinin in both callus-formation and inhibition-of-hypocotyl-elongation assays
Lethal during embryogenesis (PubMed:15611175). RNAi-mediated knockdown in the germline results in defective nurse cell nuclei decondensation and dispersal ultimately affecting oogenesis (PubMed:24244416)
Loss of maternal expression causes arrest prior to the syncytial blastoderm stage (PubMed:14667416). A percentage of larvae and adults, 40% and 35% respectively, display spontaneous melanization (PubMed:12408809). Melanization occurs mainly around the internal organs such as the gut and fat body, but is not associated with the barrier epithelia of the body wall (PubMed:12408809). Increased melanization following wounding coupled with bacterial infection (PubMed:12408809). Phenoloxidase (PO) activity is increased in the hemolymph, both in mutants that display melanization or those that do not (PubMed:12408809). RNAi-mediated knockdown results in spontaneous melanization (PubMed:22227521). After septic injury PPO1 is absent in the hemolymph, whereas its active form PO is present but at a reduced level (PubMed:18801354)
Morpolino knockdown of the protein results in increased apoptosis in eye, forebrain and midbrain, and reduced survival rate in embryos
No chromogen 5-bromo-4-chloro-3-indolyl-beta-D-galactopyranoside (X-Gal) hydrolyzation
Cells lacking this gene are totally unable to grow on L-threitol. Cells lacking both derI1 and derI2 are totally unable to grow on D-threitol or on erythritol
Decreased salt tolerance
Abnormal morphology (dumpy phenotype), slow growth, sterile and in severe cases embryonic lethal
No visible phenotype in normal conditions: mice are fertile, do not show any gross abnormalities and do not develop spontaneous cancers (PubMed:30017584, PubMed:31795137). Mice have normal numbers of B- and T-cells, but show defects in class switch recombination in primary B-cells (PubMed:30017584, PubMed:31795137). Mice lacking both Cyren and Nhej1/Xlf show embryonic lethality caused by severe defects in classical non-homologous end joining (NHEJ) (PubMed:30017584)
No visible phenotype, due to redundancy with ESF1.2 and ESF1.3. Simultaneous down-regulation of all 3 genes by RNAi induces embryo abnormalities
RNAi-mediated knockdown very slightly reduces viability and brood size; phenotype is exacerbated on a mutant background which enhances the overall efficacy of RNAi (PubMed:12783801). Increases sensitivity to paraquat and reduces lifespan at 25 degrees Celsius, but not at 20 degrees Celsius (PubMed:19553937). Abolishes lifespan extension completely on an eat-2 mutant background (PubMed:19553937). Substantially increases embryonic expression of sup-35 (PubMed:19521497)
Maintain higher tissue sulfate concentrations under sulfur-limiting conditions
Deletion mutant is sensitive to 2-MHQ and catechol
Adult males appear unable to discriminate between males and females when choosing a mate; either because they display increased levels of courtship behavior towards males (when presented with only males) or they display the same levels of courtship towards both males and females (when presented with both sexes) (PubMed:10747058, PubMed:22292044). During male-female courtship, they also begin courting virgin females earlier than wild-type males, suggesting that their increased tendency to court both sexes may also be due to an increase in male sexual activity (PubMed:10747058). No effect on female sexual behavior, and other aspects of male sexual behavior appear unaffected (PubMed:10747058). RNAi-mediated knockdown in neurons of adult males abolishes their ability to discriminate between male and female during courtship (PubMed:22292044). RNAi-mediated knockdown in the mushroom bodies of adult males, results in a slight, but not significant, decrease in their ability to discriminate between males and females (PubMed:22292044). Howver, RNAi-mediated knockdown in various chemosensory peripheral neurons have no effect on male sex discrimination (PubMed:22292044)
No visible phenotype in growth, sporulation, spore germination, outgrowth, or spore heat resistance (PubMed:8830698). No visible phenotype in the absence of antibiotics; loss of resistance to oxacillin and cephalexin but not penicillin G. It cannot be deleted in the absence of a catalytically inactive copy of penicillin-binding protein 2B (pbpB) (PubMed:28792086)
Leads to elevated levels of Ty1 retrotransposition and Ty1 cDNA
Knockout mice have normal reproductive phenotype, however, males show higher cholesterol sulfate serum levels than wild-type
Slight increase in sensitivity to trichloroethylene vapor, UV light or mitomycin C
Does not cause cell morphology changes, cell growth defects, cell cycle phenotypes, or loss of Smr/SMRTER protein from the Sin3A-histone deacetylase (HDAC1/Rpd3) complex
Mutants have a disorganized brain and neural tube, bent tail and very small or absent otoliths
Cells partially restore cytochrome c oxidase activity in a CcdA-deficient mutant, possibly because the bacteria can no longer oxidize the two heme-binding thiol groups in apocytochrome c
RNAi-mediated knockdown is lethal (PubMed:20579883). RNAi-mediated knockdown in the wings results in increased apoptosis, endoplasmic reticulum stress and lipid accumulation (PubMed:20579883, PubMed:20579879, PubMed:29127204, PubMed:29995586). This is accompanied by severe growth defects including venation defects, defective wing-hair polarity (as a result of defective fz and stan trafficking) and wg signaling (PubMed:20579883, PubMed:20579879, PubMed:29127204, PubMed:29995586). RNAi-mediated knockdown in the notum causes severe planar polarity defects affecting orientation morphology and number of sensory bristles or microchaetae (PubMed:20579879). RNAi-mediated knockdown in the eye results in defective phototaxis and presynaptic transmission in vacuolated photoreceptor neurons and pigment cells (PubMed:26376863). RNAi-mediated knockdown in neurons leads to defective autophagy and neurodegeneration, impaired synapse morphology, ultrastructural organization and axonal transport of the active zone component brp, ultimately resulting in lethality at different developmental stages (PubMed:26376863). The few adult survivors show strongly reduced spontaneous movements and poor climbing abilities (PubMed:26376863). RNAi-mediated knockdown in the mushroom body results in altered short- and long-term memory (PubMed:26376863). RNAi-mediated knockdown in the fat body results in increased autophagy (PubMed:29127204)
Male mice are infertile due to reduced sperm motility and abnormal sperm morphology
Deletion mutant exhibits a reduction in the adhesion to HeLa and A549 epithelial cells compared with the wild-type strain. Shows an attenuated phenotype in the mouse model
Embryos show decreased spinal cord size associated with reduced cell proliferation and altered cell differentiation in the central canal of the neural tube
Mice show defects in commissural axon guidance in spinal cord including an altered lateral and ventral funiculi projection. The phenotype resembles that of a SLIT1;SLIT2;SLIT3 triple mutant
Fails to grow on methylamine. N(5)-methyl-L-glutamine is not detected in the intracellular pool of free amino acids from the deletion mutant
No visible phenotype under normal growth condition. In case of infection, plants are altered in RPM1-mediated disease resistance
Global developmental delay (PubMed:14744934, PubMed:24895408). Abnormal palatogenesis; palatine bone absent, micrognathia, cleft palate and small skull (PubMed:14744934, PubMed:24895408). Results in death during gestation or soon after birth with a small body size (PubMed:14744934). May also result in preaxial polydactyly of the right hindlimb and abnormal hepatic development (PubMed:14744934). Knockout mice leads to an increased frequency of tumor formation (PubMed:14744934, PubMed:24895408)
Deletion of the gene affects gene expression. It leads to strong expression of non-functional flagella coupled to a complete lack of the type 3 secretion system (T3SS), including the structural proteins that comprise the secretory apparatus and its effector proteins. Mutant displays a 'paralyzed' phenotype. It also results in excretion of acetate into the surrounding environment, and reduced binding to host cells, likely because it lacks the T3SS. Deletion of the gene affects colonization and clinical disease in vivo
No obvious phenotype at 20 degrees Celsius or 25 degrees Celsius. At 20 and 25 degrees Celsius, double knockdown mutants with wdr-5.1 have increased fog-3 expression. At 25 degrees Celsius, these mutants have increased fog-1 expression, reduced brood size accompanied by 42% embryonic lethality with 100% of the surviving progeny being sterile. Surviving progeny display defective spermatogenesis to oogenesis transition with 88% of the gonads only containing sperm. The remaining germ cells in the gonads switch to oogenesis, but the oocytes display either an endoreplication or endomitotic phenotype. Germ cells also have increased expression of the sex determining factor tra-1 in the cytoplasm and as a result there is reduced binding of tra-1 to the fog-3 promoter. No detectable defects in histone H3 'Lys-4' di- or tri-methylation in embryos or adults germ cells at 20 or 25 degrees Celsius
Impairs the production of r-N-DMAT and ac-r-N-DMAT
Mice are perfectly viable but show complete male sterility (PubMed:26248850, PubMed:26162102, PubMed:26853561). Spermatogenesis proceeds normally through meiosis. However, haploid cells undergo a complete arrest in spermatid development before spermatid elongation (PubMed:26248850, PubMed:26162102). Arrested cells show altered Golgi apparatus organization, leading to a deficit in the generation of a spreading acrosomal cap from proacrosomal vesicles and merge to form giant multinucleated cells released to the epididymis. Spermatids also completely fail to form the flagellar axoneme (PubMed:26162102)
Leads to systemic infections characterized by fungal escape from the vasculature, tissue penetration, proliferation in vivo, and considerable overstimulation of the pro-inflammatory arm of the innate immune response
deafness, bradycardia and diabetic traits
Cells show a delay in differentiation to swarmer cells and are unable to migrate effectively on agar surfaces. Putrescine restores normal cell differentiation and migration ability
Neither hmoB single mutant nor the hmoA hmoB double mutant display robust and reproducible phenotypes relative to the wild-type
Early death caused by defective metabolism of vitamin B6 (PubMed:7550313). At about two weeks of age, mice display seizures from which they die (PubMed:7550313, PubMed:9056646). Seizures are caused by a defect in the metabolism of pyridoxal 5'-phosphate (PLP) similar to that found in patients with hypophosphatasia, which ultimately results in a decrease in levels of 4-aminobutanoate (GABA) in the brain (PubMed:7550313). Mice do not show defects in skeletal formation during the first 8 days of life (PubMed:7550313, PubMed:10620060). Skeletal defects first appear at approximately 10 days of age and are characterized by worsening rachitic changes, osteopenia and fracture (PubMed:9056646, PubMed:10620060). Osteoblasts differentiate normally but are unable to initiate mineralization: histologic studies reveal developmental arrest of chondrocyte differentiation in epiphyses and in growth plates with diminished or absent hypertrophic zones (PubMed:10620060, PubMed:11028439). Mineral crystals are initiated within matrix vesicles (MVs) of the growth plate and bone; however, mineral crystal proliferation and growth is inhibited in the matrix surrounding MVs, as in the case with hypophosphatasia (PubMed:14982838). Progressive osteoidosis from defective skeletal matrix mineralization is observed but not associated with features of secondary hyperparathyroidism (PubMed:10620060). Abnormal vitamin B6 metabolism is not the cause of impaired bone mineralization (PubMed:11169525). An accumulation of substrates is observed, characterized by strong elevation of urinary diphosphate (PPi) and phosphoethanolamine (PEA) levels and a striking accumulation of plasma PLP (PubMed:10620060). Mice lacking both Phospho1 and Alpl show a complete absence of skeletal mineralization, leading to perinatal lethality (PubMed:20684022). Bone mineralization in mice lacking both Enpp1 and Alpl is essentially normal, demonstrating that Enpp1 and Alpl are antagonist key regulators of bone mineralization by determining the normal steady-state levels of diphosphate (PPi) (PubMed:12082181). Conditional deletion in adipocytes leads to defective adaptive thermogenesis: defects are caused by abolition of the futile creatine cycle, thereby reducing whole-body energy expenditure and leading to rapid-onset obesity in mice, with no change in movement or feeding behavior (PubMed:33981039)
Accumulation of presynaptic components in the dendrite of DA motor neurons (PubMed:20510931). RNAi-mediated knockdown results in an abnormal distribution of GABAergic synaptic vesicles at synaptic termini of the ventral nerve cord (PubMed:16996038). RNAi-mediated knockdown in combination with exposure to pentylenetetrazole, a GABA antagonist that induces seizures, results in an increased convulsion incidence as compared to wild-type animals (PubMed:16996038)
Narrow leaves and reduced root growth that results from a decreased cell division rate. Increased abscisic acid (ABA) sensitivity and drought tolerance. Higher resistance to oxidative stress mediated by methyl viologen (MV) that blocks electron transport during photosynthesis and by CsCl in light. Accumulates anthocyanins. Reduced defense gene induction kinetics and salicylic acid (SA) accumulation mediated by pathogens (e.g. Pseudomonas syringae pv. maculicola) accompanied by an enhanced susceptibility in npr1 deficient plants
Defects in endocytosis
A mouse model for human lysinuric protein intolerance (LPI), where homozygous knockout mice for Slc7a7 gene are born at a frequency lower than the expected Mendelian ratio (PubMed:17376816). Only two homozygous mice survived, whereas 16 of them died within 24 h of birth (PubMed:17376816). Growth retardation is an ongoing feature of the two surviving mice kept on a low-protein diet with citrulline supplementation. After a planned withdrawal of the special diet both mice show an acute metabolic derangement, identical to that found in human LPI, leading to death of both animals after severe hyperammonemic neurological symptoms (PubMed:17376816). Tamoxifen-inducible Slc7a7 homozygous knockout mice model resembles the human LPI phenotype, including malabsorption and impaired reabsorption of cationic amino acid (CAA), hypoargininemia and hyperammonemia. Mice also develops pulmonar alveolar proteinosis (PAP) and neurological impairment (PubMed:31653080)
Cells lacking this gene show a white phenotype and produce 4-hydroxy-2,2'-bipyrrole-5-carbaldehyde (HBC), 4- methoxy-2,2'-bipyrrole-5-carbaldehyde (MBC) and 4-hydroxy-2,2'-bipyrrole-5-methanol (HBM)
Sterility. Reduced heat stress (HS) memory associated with a premature decline of expression of HSA32, HSP18.2, HSP21, HSP22 and HSP101 after HS. The double mutant brm-1 fgt1-1 exhibits retarted seedling development resulting in reduced development and delayed leaf initiation, as well as delayed flowering time
Impairs the production of penigequinolone and accumulates the dimethylallyl quinolone intermediate
Slightly abnormal Golgi stacks with laterally expanded cisternae. Abnormal formation of spherical bodies in the endoplasmic reticulum
Egg-laying defective (PubMed:18586090). Reduced expression of the tryptophan hydroxylase tph-1 which leads to reduced production of the neurotransmitter serotonin in the hermaphrodite-specific motor neurons (HSN) (PubMed:18586090). Inappropriate lateral projection of HSN axons (PubMed:18586090). Lack of netrin receptor unc-40 expression in a subset of HSN and VC motor neurons (PubMed:18586090). RNAi-mediated knockdown prevents cell death of a subset of the serotonergic neurosecretory motor (NSM) neuron sister cells, and survival of NSM sister cells is increased in an hlh-2 mutant background (PubMed:12874127)
Reduced number of iridophores in the eye (PubMed:29078341). Fishes lacking alkal2b do not exhibit any defects in trunk iridophores in adults (PubMed:29317532). Fishes lacking both alkal1 and alkal2b show a complete loss of eye iridophores (PubMed:29317532). Fishes lacking alkal1, alkal2a and alkal2b are embryonic lethal and display total loss of iridophores (PubMed:29317532)
Lipid A contains a monophosphate group at position 4' instead of the usual galacturonic acid moiety. No longer has 4'-dephosphorylase activity on Kdo(2)-lipid IV(A). Increased sensitivity to the cationic antimicrobial peptide (CAMP) polymyxin B (PMB) but not to other several other antibiotics. A double lpxE-lpxF mutant contains lipid A bi-phosphorylated at positions 1- and 4'- and has greater sensitivity to PMB than either single mutant. No visible effect on free-living bacteria, or on nitrogen fixation upon nodulation of P.vulgaris
No visible phenotype under normal growth conditions (PubMed:15722468). Slight delay in seedling establishement, specifically in the process of cotyledon greening (PubMed:24489010)
Loss of the expression of CFAP65 in testis which is associated with an inversion breakpoint into intron 3 of the gene may be responsible for the infertility associated with the Rose-comb trait
Homozygous knockout mice display no overt phenotype with respect to body size, mating, and lifespan
Mice are viable, fertile and without evident histopathological abnormalities. After challenge with bacterial lipopolysaccharide (LPS), they exhibit longer survival than wild-type mice. They are also resistant to lethal effects of exogenous sPLA2-IB/PLA2G1B after sensitization with sublethal dose of LPS, suggesting a potential role in the progression of endotoxic shock
Deletion of this gene increases ampC expression and promotes beta-lactam resistance similar to other peptidoglycan recycling mutants. This mutant strain is hypersensitive to the antibiotic fosfomycin which targets MurA activity and thus blocks the conversion of UDP-GlcNAc into UDP-MurNAc as part of the de novo peptidoglycan precursor synthesis pathway
Defects result in partial SOS induction, inducing some overexpression of the nuclease NucA protein
Worms are viable and do not display obvious developmental defects; they however exhibit significantly longer lifespan and heat resistance (PubMed:33357433). Cells show reduced N6-methylation of adenine(1717) in 18S rRNA (PubMed:33357433)
Increases accumulation of intracellular sodium in conditions of high sodium ions (PubMed:17556514, PubMed:19757095). Does not affect intracellular potassium levels in presence of high potassium (PubMed:17556514). Leads to sodium ion sensitivity, the sensitivity to potassium ions is not affected (PubMed:17556514)
Mice display severe tracheomalacia with gaps in the tracheal cartilage rings along the entire length of the trachea (PubMed:18585372). 90% of mutants die within the first nine days of postnatal life and no mutants survive longer than 30 days postpartum (PubMed:18585372). Embryonic radial glial cells exhibit significantly shorter processes and mutant embryos display abnormal cortical organization and decreased cortical thickness (PubMed:31147466). Conditional knockout in mature vomeronasal sensory neurons abolishes calcium-activated chloride currents but does not affect Tmem16b expression or glomerular development in the accessory olfactory bulb (PubMed:25779870, PubMed:34433575). Conditional knockout in intestinal and respiratory epithelial cells abolishes both calcium-activated chloride channel activity and CFTR-dependent chloride secretion (PubMed:28963502). Conditional knockout in ciliated airway epithelial cells results in inhibition of basal airway mucus secretion with accumulation of mucus in airway club cells (PubMed:30586313). Conditional knockout in intestinal epithelial cells results in accumulation of mucus in both large and small intestinal goblet cells (PubMed:30586313). Conditional knockout in Syn1-expressing cells results in impaired social behavior, depressive-like behavior and decreased weight but does not affect locomotor activity, cognitive function or motor coordination (PubMed:29928889). Conditional knockout in dorsal root ganglion neurons results in reduction of heat-sensitve Cl- currents and a pronounced analgesic effect in response to heat (PubMed:22634729). Conditional knockout in dorsal root ganglion neurons results in reduced Mas-related G-protein coupled receptor-dependent itching (PubMed:35135993). Conditional knockout in the inner ear does not affect morphological development of the organ of Corti but impairs pre-hearing cochlear activity and spontaneous burst firing as well as sensitivity and frequency selectivity of sound-evoked firing of neurons of the medial nucleus of the trapezoid body (MNTB) (PubMed:35129434). Conditional knockout in smooth muscle cells does not alter Ca2+ signaling, uterine contraction, gestation length, or litter size (PubMed:31175367). RNAi-mediated knockdown reduces calcium-activated chloride currents and saliva production (PubMed:18724360). RNAi-mediated knockdown results in a pronounced analgesic effect in response to heat (PubMed:22634729)
Loss of the glucose branch in N-glycans. N-glycans however contain the entire 6-mer, demonstrating that Glc plays no role in determining the length of the GalNAc backbone. Cells show levels of colonization of chick cells similar to those of the wild type
No detectable desulfurization activity on DBT
Developmental arrest at larval stage L1 or L2. RNAi-mediated knockdown results in aberrant splicing of tos-1 mRNA with increased intron 1 retention and exon 3 skipping, leading to increased expression levels of tos-1 isoforms 1 and 2. However there is no obvious recognition of the cryptic 3' splice site in tos-1 intron 1
Developmental defects, early flowering and altered nuclear morphology. Lethal when homozygous
Viable, although fertility is severely reduced in both males and females. Males have significantly reduced testis size, with progressive degeneration of seminiferous epithelium and loss of germ cells from 8 weeks of age. Sperm motility is also reduced
Reduced root growth and increased sensitivity of the root to added Ser
Mice embryos die at 12.5-13.5 dpc and display less blood vessels (PubMed:23529610). Embryos display hypoplastic livers, cellular necrosis in the myocardium, hypoplasia of the heart and die in utero from severe anemia (PubMed:10425189, PubMed:10652269). Mice display severe abnormalities in the development and function of secretory cells, such as plasma B cells and pancreatic acinar cells (PubMed:16362047). Haploinsufficient mice fed a high-fat diet gain more weight, display enhanced ER stress in adipose tissue, reduced insulin receptor signaling and develop peripheral insulin resistance and type 2 diabetes (PubMed:15486293). Endothelial-specific knockout mice show delayed retinal vascular development and impaired postischemic angiogenesis (PubMed:23529610, PubMed:23184933). Dopaminergic neuron-specific knockout mice display ER dysfonction and accumulation of abnormal protein aggregates (PubMed:24753614). Liver-specific knockout mice leads to reduced lipogenic gene expression and diminished hepatic lipid synthesis (PubMed:18556558). Adipocyte-specific knockout female mice fed with a regular or high-fat diet, show no alteration in body weight, adipose tissue mass, blood glucose, serum insulin and lipid levels; however during lactation adipose tissue mass increases and milk production decreases but mammary gland structure and milk composition remains normal (PubMed:23623498). Intestinal epithelial cell-specific knockout mice born and developed normally but displayed small intestinal mucosal inflammation in association with increased ER stress, a diminution of Paneth and goblet cells with reduced secretory granules (PubMed:18775308)
Has derepressed alkaline phosphate activity, especially under high-phosphate conditions. In single-challenge murine ascending urinary tract infection (UTI) experiments, quantitative cultures of urine, bladder and kidney reveal no significant differences, however in competitive colonization experiments, the mutant is significantly out-competed by the wild-type in kidneys and urine and recovers in lower amount in bladder. In human urine, mutant and wild-type grow comparably when inoculated independently, however, as observed in vivo, wild-type out-competes the mutant in competition growth experiments
Accumulation of 3-monomethyl myricetin but reduced levels of dimethylated and trimethylated myricetin
RNA from mutants accumulates epoxyqueuosine and lacks queuosine
Morpholino knockdown results in decreased myod1 expression in the fin bud of embryos
Diminishes the ureidoglycollate hydrolase activity by 3 to 4 fold
No growth on L- or D-alanine
Shows no differences in the resistance profile to different dyes, detergents and antimicrobials
Hypersensitivity to oryzalin (a microtubule inhibitor) (PubMed:19004800). Increased sensitivity to high salt treatment (PubMed:32396196). Smaller plants due to reduced cells size and associated with lower levels of both alpha and beta tubulin subunits, as well as highly disorganized cortical microtubules (MTs) (PubMed:28412546, PubMed:32396196). Increased capacity to tolerate freezing temperatures upon acclimation (e.g. 7 days at 4 degrees Celsius) associated with a continuous accumulation of HY5 in cold conditions, characterized by a lower ubiquitination status (PubMed:28412546). Reduced levels of LSM8 and of LSM2-8 complex via a post-transcriptional process, especially in cold conditions (at protein level) (PubMed:32396196). Slightly reduced production of U6 snRNA at room temperature, but to higher extent in cold situation (PubMed:32396196). Lower pre-mRNA splicing events and reduced production of U6 snRNA in plants lacking PFD2, PFD4 and PFD6, probably due to a reduced activity of the LSM2-8 complex (PubMed:32396196)
Larval arrest, protruding vulva, sterile progeny
Neonates are normal in size at birth and were born with the expected Mendelian ratio (PubMed:24960163, PubMed:25940086). They however fail to gain weight and do not survive to weaning (PubMed:24960163, PubMed:25940086). Defects are due to smaller muscle fibers and a disorganized sarcomeric structure (PubMed:24960163, PubMed:25940086)
Impaired cilium's ability to convey critical extracellular signals such as Shh, without destroying cilia and their downstream pathways. Mice show a constitutive low-level of Shh activity owing to loss of modulation of Gli2 activator, corresponding to the specification of progenitors of motoneurons through most of the neural tube. In contrast to other mouse mutants that disrupt cilia, Gli3 repressor activity is unaffected in mutants (PubMed:17488627). Mutants show abnormal cilia in which components of Shh signaling are not regulated properly: Ptch1 and Smo localize to cilia regardless of Shh stimulation, and there is no Gli enrichment in cilia upon Shh stimulation (PubMed:21976698). Conditional deletion disrupts interneuronal placement, but not postmigratory differentiation in the developing cerebral cortex (PubMed:23153492). Early neuroepithelial-specific deletion in cortical progenitors induces a reversal of the apical-basal polarity of radial progenitors and aberrant neuronal placement (PubMed:23817546)
Disruption of the gene abolishes the ability to utilize 5'-methylthioadenosine (MTA) as a sole sulfur source (PubMed:18826254). Mutant cannot release methanethiol upon MTA feeding and accumulates MTRu-1P (PubMed:23042035). Inactivation of the gene increases ethylene production from MTA-grown cells (PubMed:29133429)
Female mice lacking isoform 1 have reduced fecundity due to failure in ovary maturation. Male mice lacking isoform 1 have reduced fecundity due to testicular degeneration
Embryonically lethal. Embryos die at early postimplantation stage
Deletion mutant forms extremely small colonies on selective plates. Forms enlarged cells, with a highly elevated content of DNA. Mutant shows aberrant cellular localization of CdvA
Critically short telomeres caused by reduced ter1 RNA stability and telomerase holoenzyme complex assembly defects
Defective in glucose response and grows faster. Exhibits abscisic acid (ABA) insensitivity
Results in the loss of production of both trichothecenes and apotrichodiol and the accumulation of the unoxygenated pathway intermediate trichodiene (PubMed:7651333)
RNAi-mediated knockdown causes a longer meiosis II in 1-cell embryos without affecting meiotic exit timing. In a pam-1 (or282) mutant background, restores normal timing for meiotic exit
No discernible phenotype
Animals are viable and fertile
Reduced levels of pro-inflammatory macrophages in the peritoneal cavity following injection with thioglycollate broth to induce peritonitis and reduced AGTR1 levels in spleen macrophages
Aberrant nuclear morphology
Mice develop gait abnormalities that correlate with phenotypes seen in hereditary spastic paraplegia (HSP) patients (PubMed:19453301). Adults are sterile (PubMed:17101632). Progressive axonal degeneration characterized by focal axonal swellings and the accumulation of organelles and cytoskeletal components, which is suggestive of impaired axonal transport (PubMed:17101632, PubMed:19453301). Primary cortical neurons develop swellings at the border between stable and dynamic microtubules (PubMed:17101632). In neurons with axonal swellings, the mitochondrial axonal transport defects are exacerbated: distal to axonal swellings both anterograde and retrograde transport are severely reduced (PubMed:19453301). In cortical neurons, axonal swellings is probably due to impaired microtubule dynamics all along the axons (PubMed:22773755)
Vegetative phenotype does not differ visually from wild-type. No obvious defects in root development. Polyglutamylated folates still detectable, but loss of activity leads to a significant reduction (45%) in total foliar folate abundance compared to wild-type. The reduced total folate content is a result of reduced levels of 5-formyl-THF, 10-formyl and 5,10-methenyl-THF, 5-methyl-THF and THF (42, 42, 53 and 48%, respectively) compared to wild-type. The plastid and mitochondrial folate levels are also reduced by approximately 50 and 55%, respectively compared to wild-type. Folate polyglutamylation levels are significantly reduced but not abolished within the respective compartments. Combined loss of FPGS2 and FPGS1 result in embryo lethality. This double mutant has abnormal seeds that are readily distinguishable as albinos which do not proceed beyond the globular stage of embryogenesis. The absence of a developing embryo lead to collapse of seed walls, leaving shrivelled seed reamnants. Combined loss of FPGS2 and FPGS3 results in seedling lethality. Seedlings fail to proceed beyond the expanded cotyledon stage, exhibit an albino phenotype and are unable to thrive beyond germination
Cells lacking this gene cannot make F420-5,6 as the wild-type, but are able to make the biosynthesis of the intermediate FO
Knockout mice are resistant to Western diet-induced hepatic steatosis due to impaired cholic acid synthesis and deficient fat absorption
Deletion mutant is completely O-antigen-negative
Mice lacking Sema6b are viable and fertile but display abnormal projection of hippocampal mossy fibers
Cells lacking this gene are unable to grow in minimal medium with mannose as the sole carbon source. They show impaired growth in rich medium, and impairment increases in the presence of greater than 1.4 mM mannose
Albino phenotype and decrease in cpDNA copy number
Strongly reduces expression of the transcription factors TRI6 and ZEB2 that control the biosynthesis of the mycotoxins trichothecenes and zearalenon, respectively (PubMed:23874628). Exhibits an earlier induction of sexual fruiting body (perithecia) formation and drastically reduces disease symptoms in wheat (PubMed:23874628)
Decreases VPS13 levels at endosomal membranes and nuclear envelope-vacuole contact sites
Deletion of the gene increases cell respiration rate on several sugars including glucose
Mice appear normal at birth with no obvious behavioral or growth abnormalities nor overt sensory deficits. At 6 months and 1 year of age, mice display normal retinal histology and normal response in electroretinograms
RNAi-mediated knockdown causes increased presence of smo-1 conjugates during the first embryonic mitotic division
Inactivation of this gene leads to a deficiency in L-lactate dehydrogenase activity and consequently to the inability to use L-lactate as a sole source of carbon
Deletion of the gene does not affect the biosynthesis of all three types of mycolic acid
In a conditional knockdown, embryonic lethal when homozygous. Induction of the knockdown in adult animals results in a generalized accumulation of DNA damage and ultimately death of all mice within 15 weeks after the beginning of the treatment. Heterozygous animals are born at sub-Mendelian ratios, and, of those born, some are dwarfs, present hydrocephaly and have a reduced lifespan. In cells, Pold3 deficiency leads to replication stress and cell death
Early embryonic lethality due to proliferation defects and excessive cell death (PubMed:17927961). TRAIP knockdown substantially increases LPS- and poly(I:C)-induced IFN-production in mouse peritoneal macrophages at both mRNA and protein levels (PubMed:22945920)
Morpholino knockdown of rbm7 causes several degrees of the severity in the phenotype. Mildly affected fish are unable to swim away normally upon touch stimulation. The body shape is slightly shorter and sporadically brain edema could be observed. The moderately affected fish have a curved body shape, smaller head and eyes. Heart and brain edema are frequently observed. In fish with severe phenotype the body shape is completely altered, the tail is absent, and the head and eyes are smaller
Cells lacking this gene produce very low levels of coenzyme Q(8) during logarithmic growth, grow slowly on succinate as the sole carbon source, accumulate 4-hydroxy-3-octaprenyl-benzoate, and have reduced UbiG O-methyltransferase activity. In contrast, they synthesize near normal levels of Q(8) in the stationary phase
Multicellular trichomes with nuclei showing reduced levels of endoreduplication
Accumulation of endogenous zeaxanthin and reduced level of ABA. Wilty phenotype, increased water loss and premature seed germination
The knockout presents no discernible embryological defects, however double homozygous mutants for Cyp26a1/c1 display a more severe RA embryopathy phenotype than either mutant alone, with lethality by E11.0. Among others, this includes CNS patterning abnormalities, a reduced size of the head, eye, frontonasal region and an open neural tube between the fore and hindbrain
Mutants show increased copper sensitivity
Embryos die at egg cylinder stage due to growth retardation, associated with altered endosomes and lysosomes organizations and impaired membrane protein transport in the visceral endoderm
No visible phenotype, maybe due to the possible redundancy with GSTF9
Embryonic lethality, due to impaired vascular maturation and defects in heart development. Embryos appear normal up to 11.5 dpc, but after that they display massive hemorrhage. They have a normally arborized vascular network, but present excessive sprouting angiogenesis and severe aberrations in vessel size. Their aorta and other arteries are not properly enveloped by vascular smooth muscle cells, causing hemorrhage. Likewise, small blood vessels show a marked reduction in the number of vascular pericytes. In addition, mutants display defects in heart morphogenesis, with reduced myocardial tissue and altered morphology of the heart wall and the trabeculae (PubMed:11032855, PubMed:14732704, PubMed:21668976, PubMed:22951644). At 12.5 dpc, mutant embryos also show a massive cell loss in the forebrain (PubMed:16314531). Conditional knockout in endothelial cells leads to the same vascular maturation defect as that seen in homozygous knockout mice (PubMed:12869509). Conditional knockout in fibroblasts leads to defects in chemotaxis, probably due to defects in the activation of SRC and PTK2/FAK1, resulting in defects in the reorganization of the actin cytoskeleton and lamellipodia formation (PubMed:11726541). A T-cell-specific knockout leads to a defect in the egress of mature T-cells from the thymus into the periphery (PubMed:14737169). Conditional knockout in osteoclast precursors leads to osteoporosis, due to impaired migration of osteoclast precursors and increased osteoclast attachment to the bone (PubMed:19204730)
Homozygous males with null mutations have smaller testes and are sterile, due to massive apoptotic cell death of male germ cells during meiotic prophase. Spermatocytes fail to form axial/lateral elements and synaptonemal complexes, and the chromosomes in the mutant spermatocytes do not synapse (PubMed:10678170). In contrast, females are fertile and generate healthy offspring. However, they exhibit a sharp reduction in litter size that increases with advancing maternal age (PubMed:10678170, PubMed:12004129). In contrast to wild-type, a high percentage of the mutant embryos display aneuploidy (PubMed:12004129)
Defects lead to convulsions mimicking epilepsy, possibly due to altered neurotransmitter function (PubMed:15254012). RNAi-mediated knockdown results in arrest at the 50-100 cell stage, whereby egg and sperm pronuclei fails to migrate (PubMed:11685578). RNAi-mediated knockdown prevents the sperm-donated centrosome from leaving the posterior cortex in 1-cell embryos (PubMed:20599902). RNAi-mediated knockdown results in an abnormal distribution of GABAergic synaptic vesicles at synaptic termini of the ventral nerve cord (PubMed:16996038). RNAi-mediated knockdown results in nuclear migration defects in hyp7 hypodermal precursor cells, but only in a small number of animals (PubMed:20005871). RNAi-mediated knockdown in a pam-1 mutant background restores anterior-posterior polarity (PubMed:20599902)
RNAi-mediated knockdown results in additional cell divisions in postembryonic intestinal cells characterized by a premature entry into S phase
Not essential, the disruption mutant is super-sensitive to azide, export of some proteins is decreased and has a small colony growth phenotype on rich agar medium. It cannot replace secA1
Ectopic endomitosis during somatic cell division leading to gigas cells, large guard cells, and round cells containing large polyploid nuclei in cotyledons. Enhancer of the myb3r4 mutant phenotype. Enhancer of bon1-2 phenotype, leading to dwarf and bushy phenotype with many lateral shoots. Production of diploid gametes by skipping the second meiotic division; male meiosis leads to dyads instead of tetrads, and selfed progeny provides tetraploids (4n) and triploids (3n), but no diploid (2n) plants
Embryonic lethality with robust developmentally delayed phenotype observed at 8.5 dpc, progressing through 9.5 dpc with full lethality by 12.5 dpc (PubMed:24781204, PubMed:28839193). RNAi-mediated knockdown in zygotes results in formation of multipolar spindles and increased ratio of arrested or incorrectly developed embryos (PubMed:28839193)
RNAi-mediated knockdown causes accumulations of fluid, known as blistering, in the cuticle (PubMed:24569038). Hypodermal or cuticular rupture, typically in the anterior body region (PubMed:24569038). Defects in cuticle integrity (PubMed:24569038)
Yellow-green seedling phenotype (PubMed:19424177). Seedling lethality after the development of three leaves (PubMed:19424177). Defects in plastid mRNA metabolism and reduced levels of subunits of several photosynthetic enzyme complexes (PubMed:19424177)
Mice have ventricular septal defects and can display right-sided stomach. The embryos exhibit microphthalmia, cleft palate and polydactyly. Embryos lack also nodal cilia. Cilia in neural tubes are scarce and morphologically defective, and failed to elongate axonemes. Basal bodies dock to the plasma membrane in Tctn2 null neural epithelium. No Arl13b ciliary staining in defective Tctn2 embryos perineural mesenchyme suggesting that, as in Tctn1 null mutants, defective Tctn2 cilia lack Arl13b. Tctn1 and Tctn2 share a common function, with both affecting ciliogenesis in a tissue-specific manner
Mutant lacking this gene does not show significant decrease in CSF production, but the triple deletion mutant aprE-epr-vpr is defective in the cleavage event to release mature CSF
Mice exhibit male infertility, but their mating behavior, spermatogenesis, sperm morphology and motility remain unaffected (PubMed:23553430). Male sperm migration from uterus into oviduct and zona-intact oocyte binding are impaired; however, sperm is still able to fertilize cumulus-intact oocytes (PubMed:23553430). Male show an absence of mature ADAM3 in sperm (PubMed:23553430)
RNAi-mediated knockdown prevents the formation of ER sheet-like structures during mitosis in the 1-cell embryo. ER accumulates in foci throughout mitosis and partially fails to disperse at the end of mitosis
Deficient mice display hyperphagia, severe obesity, gigantism, insulin resistance and elevated serum leptin levels potentially linked to defects in primary cilia (PubMed:18162531, PubMed:24633808)
Plants show an increased Val content but no changes in Leu content
RNAi-mediated knockdown causes enhanced resistance to infection with the Gram-negative bacterium P.aeruginosa (PubMed:31532389). Knockdown suppresses the developmental delay phenotype of hif-1 mutants when grown under iron limiting conditions (PubMed:31532389)
Dramatic increase in root nodule number when inoculated with symbiotic rhizobia
Grows more slowly than wild-type at 30 and 37 degrees Celsius, has defective protein secretion, swarming motility and biofilm formation. Increased susceptibility to polymyxin B and SDS but not to kanamycin or gentamycin. No change in the ability of bacteria to infect macrophages
Grows and develops almost normally, except for the production of tall fruiting bodies
No visible phenotype when grown under normal conditions or under cold stress, but lack of methylation of the adenosine dinucleotide present in the mitochondrial 18S rRNA
Knockout mice have no apparent defects in embryonic development or hematopoietic differentiation and have wild-type profiles for kynurenine in blood serum and for immune cells in spleen, lymph nodes, peritoneum, thymus and bone marrow. Knockout mice exhibit defects in IDO-mediated T-cell regulation and inflammatory responses (PubMed:25691885). They exhibit defects in allergic or autoimmune responses (PubMed:24402311)
Flies display premature microtubule-dependent cytoplasmic streaming; failure in the orientation of microtubule plus ends towards the posterior pole
Deletion mutant shows a considerably lower isoleucine uptake rate as compared to the wild-type strain
Show reduced level of ethylene production, suppressed zyg1 expression thus resulting in inhibition of zygote formation and impaired macrocyst formation
Defects in axon guidance in HSN neurons although axons reach the ventral nerve cord in the end. In max-2 and mig-10 double mutants, the phenotype is more severe resulting in axons failing to reach the ventral nerve cord
Worms exhibit severe posterior disorganization during embryogenesis (Nob phenotype) (PubMed:12399316). Mutants exhibit Q cell migration defects, affecting cell position along the anterior posterior axis (PubMed:12399316). RNAi mediated knockdown abolishes nuclear localization of ceh-60 (PubMed:30956009). RNAi mediated knockdown targeted to the intestine represses expression of vitellogenin genes; further repressed on ceh-60 mutant background (PubMed:30956009)
No visible phenotype. Reduced indolic glucosinolate levels in adult leaves and loss of responses to brassinosteroids
Significant reduction in the number of tyrosine hydroxylase (TH)-positive cells in the olfactory bulb
Mice show a defect in ventral folding morphogenesis, exhibiting two bilateral heart tubes and absence of foregut, and died around embryonic day 11. Significantly enlarged endosomes were also detected in cells of the endoderm
Mice lacking Mcad show increased neonatal mortality (PubMed:16121256). They display hypothermia and cold intolerance upon fasting (PubMed:16121256). Their serum and bile acylcarnitine profile is also different from wild-type mice, with an elevation of serum decenoylcarnitine compared to wild-type mice (PubMed:16121256). They also display hepatic steatosis following fast periods (PubMed:16121256). They develop significantly elevated concentrations of urinary adipic, suberic, and sebacic acids and hexanoylglycine (PubMed:16121256)
Cells lacking this gene display a strong resistance to PA-824 and CGI-17341 (a nitroimidazo-oxazole)
Zebrafish 'you class' developmental mutants are grouped together based on the anormal U-shaped morphology of the somites. Homozygous zebrafish mutants show disruption of the formation of hedgehog-sensitive muscle fates, with an altered myotomal morphology from a characteristic chevron shape to a more rounded U-shaped. One of these 'you class' mutant results from disruption of the Scube2 gene. These mutants lack slow twitch muscle and muscle pionneer cells, and PTCH1 expression within the myotome and neural tube is essentially absent
Reduced length of roots and inflorescence stems. Altered orientation of cellulose microfibrils in fiber walls leading to dramatic reduction in fiber mechanical strength. No apparent alteration in cell wall composition. Lower expansion rate of the inflorescence stem along with the reduced thickness of both primary and secondary cell walls leading to mechanically weaker stems (PubMed:25646318)
Auxotrophic for all of the 3 branched-chain amino acids (isoleucine, leucine and valine), when grown with either C6 or C2 carbon sources. Depletion of these branched chain amino acids in the medium led to loss of viability
Rapid development. Cells are 4-fold more resistant to the antitumor agent cisplatin than are wild-type cells. Additionally it produces fruiting bodies with spore masses that cannot rise up the stalk during development. Mutant cells grow exponentially at the same rate as wild-type. Disruption of regA in a tagB null or in a tagC null background resulted in higher levels of sporulation. Disruption of regA in a dhka null background corrects the defect in stalk formation and suppresses the block to sporulation
Cells lacking this gene show a loss of glyoxalase and reduction in aminopeptidase activity (PubMed:15550391, PubMed:21696459). They accumulate methylglyoxal and are more susceptible to methylglyoxal than the parent strain (PubMed:21696459). Cells exhibit growth defects above 48 degrees Celsius and accumulate higher levels of peptides than wild-type (PubMed:14731284, PubMed:15550391). They display increased protein and DNA/RNA glycation levels, and exhibit strong mutator phenotypes (PubMed:26102038, PubMed:28596309). Moreover, the double and triple mutants lacking yhbO and yajL, and yhbO, yajL and hchA, respectively, display impressive amounts of glycated proteins, suggesting that the YhbO, YajL and Hsp31 deglycases display relatively redundant functions (PubMed:26774339). The triple mutant displays higher glycation levels of free nucleotides (GTP and dGTP) than the parental strain, and shows higher glycation levels of DNA and RNA than those of single mutants (PubMed:28596309). The hchA mutant cells show decreased viability in methylglyoxal- or glucose-containing media (PubMed:26774339)
Double lpp-ompA mutants are spherical and only grow in the presence of electrolytes such as 30 mM Mg(2+), and are sensitive to hydrophobic antibiotics and detergents. The peptidoglycan layer is no longer attached to the cell outer membrane which undergoes abundant blebbing (PubMed:361695). Decreased efficiency of bacterial conjugation of the F plasmid (PubMed:9696748). Deletions grow poorly on SDS, cholate, at pH 3.8 or at 5 M NaCl (PubMed:11906175). Grows very slowly in the absence of NaCl, wild-type growth in 1% NaCl (PubMed:17041590). E.coli is no longer killed by human neutrophil elastase (ELANE) in vitro (PubMed:10947984)
Mutant shows decreased biofilm dispersal. Deletion increases the cyclic-di GMP concentration in the cell
Reduced plant size. Reticulate leaves with reduced number of palissade mesophyll cells
Plants develop a brittle culm (bc) phenotype with a reduction of up to 80 percent of cellulose content in culm
Essential for growth, it cannot be disrupted. Depletion experiments show that cells become longer and abnormally curved, with nucleoid condensation. Cells have many fewer 70S ribosomes; the large ribosomal subunit is 45S and is missing proteins L16, L27, L36 and interacts with 2 large non-ribosomal proteins
Morpholino knockdown causes abnormal retinal lamination in the developing eye
Cells lacking this gene are unable to accumulate 2-methylcitrate and 2-methyl-cis-aconitate
No visible phenotype under normal growth conditions, but mutant plants are unable to grow on a medium containing allantoin as the sole nitrogen source, accumulate allantoin and have increased tolerance to drought and osmotic stresses
Worms display a severely affected epithelial integrity, leading to abnormal morphogenesis of the pharynx, intestine and embryo
Male sterile showing spermatid individualization defects. No gross defects seen in testis organization or spermatid elongation but the seminal vesicles are empty
Embryonic lethality with cells differentiating, but failing to become organized (PubMed:11877381). External hypodermal cells fail to spread over and enclose the embryo, but instead cluster on the dorsal side (PubMed:11877381). RNAi-mediated knockdown results in reduced egg laying and in defective endocytosis by oocytes characterized by an accumulation of aggregated yolk protein in the pseudocoelomatic space (PubMed:19798448). RNAi-mediated knockdown results in abherrent inx-3-positive gap junction formation along the adjoining membranes of EA and EP endodermal precursor cells at the 16-24 cell stage of embryogenesis (PubMed:33238150)
No visible phenotype. Mice lack detectable levels of cysteamine in liver and kidney
Decreased resistance to fluoroquinolone antibiotics ciprofloxacin and sparfloxacin
Deletion of this gene inhibits bacterial growth. The mutant cells lose an average of 77.8% of their cell wall materials, exhibit altered morphology, and have a reduced capacity to infect macrophages
Abnormal quiescent center (QC) in the root apical meristem (RAM) and defects in cell differentiation
Morpholino knockdown of the protein disrupts normal development of the mesencephalon, the prosencephalon and the eyes
Plants show defects in male meiosis, producing an abnormal number of microspores of variable sizes. Dividing cells of mutant plants lack spindle bipolarity in metaphase of mitosis. Kin14c and kin14d double mutant is gametophytically lethal (PubMed:18088313)
Mutants are less motile, reverse more frequently than the wild-type cells, and form less biofilm. Invasiveness and ability to induce skin abscesses and host humoral immune responses are significantly attenuated
Increased hypocotyl length under short day conditions (PubMed:18796637). Delayed chloroplast development (PubMed:18182030)
Lethal effect when homozygous, due to defect in pollen germination and pollen tube growth
Mice develop normally, are fertile, and do not present elevated tumorization rates. Cells deficient in TACC2 divide normally and do not show any change in the frequency of apoptosis induction
Cells enhance strongly the transcription of puuE
Worms have defects both in early embryonic morphogenesis and in postembryonic male tail morphogenesis
Abolishes synthesis of myo-inositol and mycothiol (MSH or AcCys-GlcN-Ins) (PubMed:30270521). Increases cellular protein carbonylation in response to reactive oxygen species (ROS) (PubMed:30270521). Sensitive to ROS-inducing agents, including cumene hydroperoxide, hydrogen peroxide, menadione, cadmium chloride, nickel sulfate, iodoacetamide, methylglyoxal, and 1-chloro-2,4-dinitrobenzene (PubMed:30270521). Sensitive to the antibiotics ciprofloxacin, streptomycin, vancomycin, neomycin, and rifamycin SV (PubMed:30270521). Leads to a mild growth defect in inositol-less media (PubMed:30270521)
Leads to exclusive filamentous growth
Gene knockout results in significant reduction of flagellar beating and cell swimming, and absence of outer dynein arms in the distal region of flagellum axoneme. Cell motility is characterized by an erratic swimming pattern with altered propagation of the tip-to-base wave, increased frequency of base-to-tip waves, and frequent tumbling typical of outer dynein arm mutants
Stops growing at the early stage of bud formation and rapidly loses viability at the non-permissive temperature. Exhibits a defect in the initiation of the mannose outer chain. Leads to accumulation of free forms of oligosaccharides (fOSs)
No change in growth rate or oxygen evolution under standard growth conditions (50 umol photons/m(2)/s and 45 degrees Celsius). Dimeric PSII less stable upon isolation, soluble protein Psb28 associates substoichiometrically with PSII. Only the D1 protein translated from the psbA2 or psbA3 gene is found in PSII
Spermatogenesis is arrested at the primary spermatocyte stage
Reduced body size (PubMed:10021351). Abnormalities in the male tail (PubMed:10021351). Disrupted aversive learning (PubMed:23019581)
Morpholino knockdown induced a glomerular filtration barrier defect
Defective embryo arrested at globular stage (PubMed:15266054, PubMed:25871650). Impaired chloroplast development due to a disturbed formation of internal thylakoid membranes during embryogenesis. Aberrant embryo patterning along the apical-basal axis. Disrupted transport and response of auxin in embryos (PubMed:25871650). Silenced plants exhibit chlorosis and slight disruptions in the cleavage of polycistronic rRNA and mRNA precursors (PubMed:22033332)
Viable with no gross defects. Trabecular bone volume and bone mineral density is significantly reduced at two months of age, and progressively worsens with age. Bone strength is reduced and fracture healing is impaired. Hematopoiesis appears to be normal
Deletion leads to complete loss of resistance towards host cationic antimicrobial peptides (CAPs)
DNA hypermethylation and transgene silencing phenotype
Affects the expression of all the depudecin cluster genes and impairs the production of depudecin (PubMed:19737099)
Mice have a complex phenotype including abnormalities of salivary gland, gastric epithelium, bone, testis and intracranial calcification
Plants do not display MMS sensitivity during seed germination
Reduced vegetative growth and late flowering
Increased expression of the hyf operon (PubMed:12426353)
Embryonically lethal. Embryos die at about 8.5 dpc, despite normal implantation. Embryos do not develop a normal head fold, neural tube or heart tube. Endothelial-specific gene disruption is lethal at about 11 dpc, due to defects in embryonic angiogenesis
Impaired stomatal closure resulting in a wilty phenotype
No visible phenotype, but abnormal formation of the seed coat
Cells lacking this gene are more sensitive than the wild-type to oxidative stress induced by plumbagin and menadione. They display decreased ability to consume G6P and reduce plumbagin and menadione when exposed to these agents
Mice lacking APLNR are not represented at Mendelian ratios. Mutant embryos exhibit incomplete penetrance of embryonic lethality (PubMed:28854362, PubMed:28663440). Mutant embryos display improper establishment of the fetal-maternal circulation, such as underdeveloped yolk sac vasculature, embryonic vascular malformations and impaired cardiac tube looping at 10.5 dpc (PubMed:28854362, PubMed:28663440). Mice heart of embryos show reduced coronary vessel growth at 13.5 dpc (PubMed:28890073). The heart of mutant adult mice induced by pressure overload display no improvement in cardiac dysfunction, hypertrophy and fibrosis in response to peptide hormone APELA treatment (PubMed:28371822). Conditional knockout in heart endothelial cells leads to delayed progression of vessel growth onto the heart and reduced branching of the developing coronary plexus in both the subepicardial and intramyocardial layers at 13.5 and 15.5 dpc (PubMed:28890073). Conditional endothelial-specific knockout adult mice, despite severe embryonic coronary vessel defects recover normal cardiac functions; endocardial-derived coronary vessels expand to rescue defective sinus venosus development in a APELA-APLNR-independent manner (PubMed:28890073). Double knockout mice of APLNR and APELA genes exhibited the same penetrance and embryonic lethality as single APELA knockout mice (PubMed:28854362)
Adult flies are morphologically wild-type but exhibit extreme behavioral defects including temperature-sensitive paralysis, locomotor uncoordination, and tremors which increase in severity with age
Cells lacking this gene display a blocked APS- (adenosine-5'-phosphosulfate) or PAPS- (3'-phosphoadenosine-5'-phosphosulfate) dependent cysteine synthesis but do retain AvrXa21 activity
Disrupts the polyamine uptake and/or transport of the polyamine conjugate Ant-4,4 and norspermidine, a toxic structural analog of the polyamine spermidine. Intracellular levels of the natural polyamines spermidine and putrescine are as wild-type. Double knockout with either odc-1 or smd-1 (two enzymes involved in polyamine synthesis) results in a reduced brood size, delayed postembryonic development and reduced intracellular levels of spermidine. Double knockout with odc-1 results in reduced levels of the polyamine putrescine, while double knockout with smd-1 results in increased accumulation of putrescine
Impairs the ability to produce fumonisins, but accumulates two new metabolites, HFB3 and HFB4, which are biosynthetic precursors of fumonisins lacking the tricarballylic esters (PubMed:17147424)
Defects in Nr2e3 are the cause of the retinal degeneration type 7 (Rd7) phenotype characterized by excessive blue cones and loss of rods
RNAi-mediated knockdown causes embryonic lethality (PubMed:12498686). Embryos are arrested at the metaphase-anaphase transition of meiosis I and lack formation of polar bodies (PubMed:12498686). In addition, causes a loss of asymmetric cell division and par-2 mislocalization in the one-cell embryo followed by an arrest at the one-cell stage (PubMed:11832245)
Severe reduction in Ca(2+) signal in AWC neuron and in chemotaxis in response to high salt concentrations
Leads to increased susceptibility to cell wall-perturbing agents, defect in filamentation, reduction in adherence to mammalian cells in an in vitro adhesion assay, and a prolongation of survival in an immunocompetent mouse model of disseminated candidiasis
Increased tolerance to salt stress leading to better seedling survival and enhanced seed germination on NaCl- and KCl-containing medium, due to a reduced sensitivity to and reduced levels of abscisic acid (ABA), as well as a reduced induction of stress-related genes. Altered leaf morphology, both in shape and in size
Disruption of this gene leads to the significant accumulation of D-2-HGA
Death during early embryogenesis due to widespread apoptosis. Embryos manifest growth retardation from 5.5 dpc and developmental arrest accompanied by massive apoptosis at 7.5 dpc. They develop into an egg cylinder but do not form a primitive streak or mesoderm. Mice lacking both Tp53 and Chd8 ameliorate this developmental arrest
Dwarf plants with short roots and defective meristems
Perinatal lethality. Mice display severe defects in cardiovascular development, including aortic arch malformations and septation defects in the cardiac outflow tract
Embryo lethal, arresting development at the transition from the globular to the heart stage of embryonic development
Deficient DNA double-strand break formation during meiotic recombination
Polycomb phenotype leading to lethality, probably due to misexpression of homeotic genes
Cells lacking this gene show a strongly attenuated photoreactivation after treatment with UV-B irradiation
No obvious phenotype under heat stress (PubMed:20016941). Impaired resistance to avirulent bacteria P.syringae pv. tomato DC3000 (avrRpt2) (Ref.5)
Affects fibroblast shape and impairs haptotaxis and adhesion-dependent ERK-signaling
Impaired lateral root proliferation in nitrate rich root zones
No visible phenotype in normal conditions (PubMed:11274171, PubMed:11113189). During apoptosis, mice display defective clearance of apoptotic cells in the thymus (PubMed:12810961). Moreover, inflammatory as well as autoimmune reactions develop spontaneously with age (PubMed:12810961). Defective clearance of apoptotic cells is caused by an impaired capacity of macrophages to engulf, but not to bind, apoptotic cells (PubMed:15905580). Mice also show glucose intolerance after intraperitoneal glucose loading: mice manifest a tendency to develop hypoglycemia after administration of exogenous insulin as a consequence of enhanced IRS2 phosphorylation (PubMed:12205028)
Increased anxiety-like behaviors. Increased glutamatergic activity in response to nicotine in layer V neurons of the medial prefrontal cortex
Male mice are sterile, due to the absence of intercellular bridges. Intercellular bridges do not form during spermatogenesis, and male mice are sterile. In females, embryonic intercellular bridges are also absent, mice have fewer oocytes, but they are fertile
No visible phenotype. Deficient-mice have normal numbers of mast cells in all tissues analyzed. Wild-type and deficient mice develop marked local inflammation when sensitized with a high dose of DNP-specific IgE, however deficient mice have significantly reduced IgE-dependent passive cutaneous anaphylaxis (PCA) reactions when lower sensitizing dose is used. Deficient-mice show normal recruitment of circulating DC into the lung, but a defective trafficking of antigen-loaded lung DC to mediastinal lymph nodes. This defect was associated to a reduction in lymph node cellularity and reduced priming of T-helper cell 2 response
High gibberellin (GA) levels associated with dwarfism, short hypocotyl, narrow leaves, reduced apical dominance, and late flowering, but more flowers
Slightly shorter plant. Early flowering phenotype in long days (LD) but not in short days (SD)
Leads to significant delay in mycelial growth, complete loss of conidiation and inability to penetrate the host surface by mycelia-formed appressorium-like structures, consequently resulting in loss of pathogenicity
Hermaphrodites are maternal effect lethal and have elongated and strained appearing distal tip cells with abnormal migration. Male animals have detached gonadal cells that do not migrate leading to a partially elongated gonad. RNAi-mediated knockdown results in a mild defective gonad phenotype with 11% of animals having detached gonads and 17% of animals having 'stringy' gonads
Seedling lethality when homozygous. When grown on agar medium, mutant seedlings have an albino phenotype and contain plastid lacking internal membrane structures
Early leaf-rolling at the reproductive stage. Reduced wax accumulation (lower total proportions of aldehydes, fatty acids, alkanes and alcohol) in leaf cuticle leading to an increased cuticular permeability (e.g. chlorophyll leaching) and a subsequent altered drought resistance due to rapid water loss
Abolishes the production of chaetoglobosin A
Increased number of axillary inflorescence shoots and decreased seed weight
Confers hypoplastic digestive organs and selectively up-regulates the expression of the Delta113p53 isoform but not p53, resulting in compromised organ growth in def mutant fish. Loss of function affects sympathetic neuronal development (PubMed:27657329)
Plants missing both PDF2 and ATML1 have reduced levels of L1 box/ gibberellic acid (GA)-regulated putative targets, including LIP1, LIP2, LTP1, FDH and PDF1, in the presence of GA and during seed germination, thus leading to a delayed germination upon imbibition (PubMed:24989044). In plants missing HDG3, HDG7, HDG11, PDF2 and ATML1, increased cell division leading to cell overproliferation (PubMed:25564655)
No visible phenotype, but higher chlorophyll content and delayed senescence
Disruption of the gene inhibits EGT uptake
Perinatal death with high penetrance due to cranial neural tube defects (PubMed:15640247, PubMed:20589882). Exencephaly is frequently associated by open eyelids (PubMed:20589882). Defects may be due to misregulation of mesenchymal/ectodermal transcription factors (PubMed:20589882). Fetuses also show specific inner ear defects, such as smaller cochleae as well as rotational defects of sensory cells and extra cell rows in the inner ear reminiscent of planar cell polarity (PCP) mutants (PubMed:21246654). Mutant males non-penetrant for neural tube defects produce smaller litters: mutants have normal seminiferous epithelium morphology, sperm count, motility and morphology, but the mutant spermatozoa are compromised in their ability to fertilize oocytes (PubMed:22154806)
RNAi-mediated knockdown at the procyclic stage causes moderate growth defect without affecting the production of guided RNAs (gRNA)
Defective in early recombination processes leading to the absence of meiotic DNA double-strand break (DSB) formation (PubMed:19763177). Reduced silique elongation associated with fertility defects involving both male and female gametophyte abortion due to aberrant meiotic products (PubMed:19763177, PubMed:19500302). Produced multiple uneven spores aborted in later stages during anther development, due to abnormal chromosome segregation and unequal bipolar or multipolar spindles in meiocytes (PubMed:19500302)
Decreased fitness in interbacterial competition assays against S.proteamaculans
No visible phenotype in normal conditions. Impaired accumulation of PtdIns5P in response to stress such as dehydration, leading to an increased resistance
RNAi-mediated knockdown results in defective compound eye morphogenesis (PubMed:21976699). Maternal RNAi-mediated knockdown results in partial female infertility and, in early embryos, abnormal aggregation of Golgi apparatus and disrupted cleavage furrow ingression (PubMed:27535433)
No effect on general protein secretion. Decreases the extent of glycosylation of serine-rich fimbrial adhesin Fap1, but the protein is still found on the cell surface. The partially glycosylated Fap1 is larger than the wild-type protein
Leads to strong decrease of secreted chitinase activity, as well as to the clumping or clusterings of cells from early exponential phase
Reduced stomatal densities in various organs
Low fertility, adult-onset locomotor impairment and bang sensitivity, associated with mitochondrial complex III deficiency
After gene silencing by RNA interference, the tick attachment time is prolonged and about 25% of RNA-treated ticks do not successfully complete the blood feeding and detach from the host. No significant difference is observed in the engorgement body, egg weight, and hatching capability of eggs
Cells accumulate demethylspheroidene as their major carotenoid during anaerobic growth and demethylspheroidenone when grown in the presence of oxygen
Cells lacking this gene are unable to procduce validamycin A
BTG4-null mice are viable, have body sizes similar to those of their wild type littermates, are healthy up to 1 year of age, and do not spontaneously develop tumors. Females are sterile and their embryos are arrested at the one- or two-cells stage
RNAi-mediated knockdown reduces the lifespan extension phenotype of the mir-60 loss of function mutant
Null cells exhibit reduced viability in response to osmotic shock, reduced accumulation of cGMP in response to osmotic shock and decrease in growth rate
Reduced plant height, panicle length, spikelets per panicle and spikelet fertility. Increased susceptibility to the bacterial pathogen Xanthomonas oryzae pv. oryzae
Gametophytic male sterility due to reduced pollen tube growth and compromised directional ovular guidance cues sensing in the female transmitting tract, thus leading to an abnormal pollen tubes guidance growth toward micropyles (PubMed:24963069, PubMed:27872247, PubMed:23384085). Normal pollen development, hydration and germination (PubMed:23384085). Disrupted apical pectin cap and cellulose microfibrils deposition in pollen tubes resulting in an abnormal cell wall organization (PubMed:23384085)
RNAi-mediated knockdown causes a depletion of fat stores. RNAi-mediated knockdown in the intestine causes a fasting-like transcriptional response, characterized by the up-regulation of the lipl-1 gene transcription
Aberrant localization of odr-10, str-2, str-112 and str-113. Reduced response to odorants mediated by AWA and AWC olfactory neurons. Increased aggregation and response to O2 levels when knocked down with npr-1
Absence of vacuoles in the embryo and accumulation of small vesicles and autophagosomes. Embryo lethality at late torpedo stage
Grows more slowly in amino acid-free medium (SD)
No visible phenotype under normal growth conditions and normal levels of phytic acid in seeds
Leads to an alteration in the product spectrum, with an accumulation of fusarubinaldehyde (PubMed:22492438)
Impairs the synthesis of terretonin but accumulates terretonin C (PubMed:23116177)
Male and female mice are fertile but produce smaller litters and pups have a lower neonatal survival rate (PubMed:22474353). While mice are normal during the first 4 months of life, they are prone to rapid onset weight loss and sudden death after this period (PubMed:22474353). They display cardiomyopathy associated with a doubling of heart weight, impaired systolic function and a reduction in functional capacity (PubMed:22474353). Males are most severely affected, with a propensity to develop cardiac failure and diminished survival after 4 months of age (PubMed:22474353). Defects are due to membrane respiratory chain NADH dehydrogenase (Complex I) deficiency (PubMed:22474353). In the knockout experiment described above, mice show a complete knockout of Ndufs6 subunit in heart resulting in marked complex I deficiency, but small amounts of wild-type Ndufs6 mRNA are still present in other tissues, probably due to tissue-specific mRNA splicing, resulting in milder complex I defects (PubMed:22474353)
RNAi-mediated knockdown results in absence of hcp-3, hcp-4, knl-1, bub-1 and lin-53 at kinetochores (PubMed:17339379, PubMed:26904949). Also causes defects in chromosome condensation and aberrant meiotic and mitotic chromosome segregation (PubMed:17339379)
No visible phenotype, due to redundancy with GXM2 and GXM3
Mice die perinatally and exhibit profound alterations in the hematopoietic system. Blood of 14.5-16.5 dpc embryos contained mostly nucleated erythrocytes suggesting a defect in terminal maturation and enucleation of precursor cells. In the fetal liver, large immature erythroblasts predominate, macrophage exhibit an immature morphology and their number is reduced; No erythroblasts are attached to the macrophages suggesting impairment of erythroblastic island formation
No antibacterial activity toward E.coli or B.subtilis
Embryonic lethal (PubMed:29666258). Induces morphological abnormalities of neural tube defects in the entire head region of developing mouse embryos (PubMed:29666258)
No obvious phenotype, but mice are highly susceptible to carcinogens and are prone to chemically induced skin tumors (PubMed:16501569, PubMed:16713561, PubMed:17548520, PubMed:18382763, PubMed:18643924). The number of natural killer T-cells is much reduced (PubMed:16501569, PubMed:16713561, PubMed:17548520, PubMed:18382763, PubMed:18643924). Animals are highly susceptible to bacteria-induced pneumonia, due to an over active innate immune response (PubMed:16501569, PubMed:16713561, PubMed:17548520, PubMed:18382763, PubMed:18643924). Mice are more susceptible to C.rodentium infection, leading to severe inflammation in the intestine (PubMed:32424362). Animals spontaneously develop colonic inflammation, due to constitutive expression of several pro-inflammatory genes in the colon (PubMed:16501569, PubMed:16713561, PubMed:17548520, PubMed:18382763, PubMed:18643924). Animals exhibit abnormal osteoclast differentiation, leading to osteoporosis (PubMed:16501569, PubMed:16713561, PubMed:17548520, PubMed:18382763, PubMed:18643924). Hepatocyte-specific knockout mice do not exhibit any liver-related pathological phenotype under unstressed conditions (PubMed:29291351). In response to a 24-week high fat dier, they exhibit higher body and liver weight as well as reduced glucose tolerance and insulin resistance compared to controls (PubMed:29291351). They also show a considerable inflammatory response, including elevation of cytokine and chemokine concentrations in serum and mRNA expression in liver (PubMed:29291351)
Mutant worms become hypersensitive to formaldehyde-induced DNA damage (PubMed:30914427). Mutant worms exhibit significant reduction in brood size at 25 degrees Celsius and also exhibit a high incidence of male progeny at both 20 and 25 degrees Celsius (PubMed:27718356, PubMed:31839537). Moreover, exhibit a mortal germline (MRT) phenotype characterized by transgenerational loss of fecundity and vitality, marked by reduced lifespan, decreased mobility, and loss of fertility in later generations (PubMed:31839537). Mutants have a mortal germline, where brood sizes become progressively smaller and the population fails to survive beyond 12 generations (PubMed:31839538)
No visible phenotype under normal growth conditions, but mutant plants show increased sensitivity to ABA in stomatal closure and decreased sensitivity to ABA-induced inhibition of primary root growth
Disruption mutant is unable to grow on 2,4,6-TCP, but it can still transform this compound to 6-CHQ (PubMed:12057943, PubMed:17322325). Mutant accumulates an oxidized product of 6-CHQ (PubMed:12057943)
Cells display drastically reduced virulence in vitro and in vivo. Mice infected with the deletion mutant show no signs of illness during the course of the experiment. This suggests that the mutation results in defects in either invasion of intestinal epithelial cells, macrophage survival, or both
No visible phenotype, but resistance to L-buthionine-SR-sulfoximine (BSO), an inhibitor of GSH1. Clt1, clt3 and clt3 triple mutants are more sensitive to Cd(2+), have a decreased level of cytosolic GSH, an altered systemic acquired resistance response and are more sensitive to Phytophthora infection (PubMed:20080670). Clt1, clt3 and clt3 triple mutants have decreased lateral root densities (PubMed:24204368)
Leads to an expanded endoplasmic reticulum
Cells lacking this gene retain CD630_28310 on the cell surface, show higher affinity for collagen type I with attenuated virulence in a hamster model of infection
Pale brown seeds due to a strong reduction of proanthocyanidin deposition in vacuoles of endothelial cells
Null mice embryos die before 10.5 dpc. At the onset of gastrulation at 6.5 dpc, embryos are rounder and the embryonic and extra-embryonic ectoderm appears thickened and disorganized. Expression of NODAL and WNT3 is significantly expanded and/or displaced in the primitive streak as is BMP4 in the extra-embryonic ectoderm. By 7.5 dpc, embryos are unusually dense and shorter characterized by a dumb-bell appearance. There is unrestricted epithelial to mesenchymal transition (EMT) producing an abundance of mesenchymal cells. SNAIL1 expression is expanded and E-cadherin expression decreased. There is distal expansion of the proximal visceral endoderm
Host cells display increased pyroptosis
Defects in flagellar assembly process
Not lethal. Displays phenotypes characteristic of amino acid deprivation, including reduced nucleolar size, lipid vesicle aggregation in the larval fat body, and a cell type-specific pattern of cell cycle arrest that can be bypassed by overexpression of the S-phase regulator cyclin E. Reach only the size of second instar larvae, at which point they undergo cell cycle arrest
Results in defects in morphogenesis, increased numbers of dead cells, abnormal heart structure, and reduced organismal survival (PubMed:24441423). Reduces the regenerative response to muscle injury with accumulation of sarcomeric and nuclear debris (PubMed:27467399)
Morpholino knockdowns show increased embryonic lethality, with embryos that die developing one of two clear phenotypes following developmental arrest at 10 hpf (PubMed:22235774). The first group show severe epiboly arrest with desmosomal cadherins and enveloping layer becoming detached from the external yolk syncytial layer that continued to undergo epiboly (PubMed:22235774). This results in a population of cells at the animal pole which maintain cell division and some gastrulation movements (PubMed:22235774). In the second phenotype the enveloping layer is attached to the yolk but does not progress through epiboly (PubMed:22235774). The enveloping layer remains attached in a ring to the base of the blastoderm until embryos arrest due to mechanical stress and detachment of the blastoderm from the yolk cell following extensive proliferation and blastoderm growth (PubMed:22235774). Embryos that survive to 14 hpf show morphological defects characteristic of altered gastrulation movements including a shorter embryonic axis, undulating notochord and somites that show either altered morphology or substantial disorganization (PubMed:22235774). Reduced abundance of desmosome cell junctions between cells at the shield stage at 6 hpf (PubMed:22235774). At the 8 somite stage (11 hpf) desmosomes are present however show poor structural organization with a wide intercellular space or unpaired plaques (PubMed:22235774). Bradycardia, chamber dilation, and abnormal cardiac contractility with progressive pericardial edema developing by 48 hpf (PubMed:17186466). Normal desmosomal midline fails to form in the myocardial tissue of the ventricle by 48 hpf (PubMed:17186466). Cardiac edema associated with blood accumulation around the yolk sac, accompanied by decreased cardiac stroke volumes and ventricular contraction at 3 days post-fertilization (PubMed:33784018)
Sensitive to nutrient stress. Larvae display no obvious phenotype under normal feeding conditions; larval growth and development is normal, and there is no effect on triglyceride and glycogen levels. However when mutants pupate and become adults they display reduced triglyceride and glycogen stores leading to adults dying within 18 hours of starvation whereas controls survive 2.5 days without food. Larvae are also sensitive to nutrient stress displaying 50% lethality when fed a low nutrient diet
Mice are not affected in their tasting ability for salty (NaCl) and sour (HCl) stimuli, which are known not to be mediated by G proteins; but, they exhibit a significant reduction in the ability to taste the bitter compounds denatonium and quinine as well as the sweet compounds sucrose and SC45647, a guanidine sweetener. The incidence of cells responding to bitter stimulus is also reduced by seventy per cent. The residual behavioral response to bitter and sweet taste in these deficient mice suggests that there is alternative mechanism to compensate. However, transgenic expression of Gnat3 in these deficient mice restores responsiveness to both bitter and sweet compounds, whereas expression of mutated 'Gly-352' transgene do not. Furthermore, in wild-type mice, this mutated transgene acts as dominant-negative by inhibition of endogenous Gnat3 interactions with taste receptors. Mice show less preference for acesulfame-K, dulcin, fructose, D-phenylalanine, L-proline, D-tryptophan, saccharin, sweetener SC45647 and sucrose; Furthermore, in their gut, sugar or sweeteners do not increase SGLT1 expression and glucose-absorptive capacity compared to wild-type mice and the ingestion of glucose reveals deficiencies in secretion of GLP-1 and regulation of plasma insulin and glucose. Mice lacking GNAT3 show less preference for umami compounds such as monosodium glutamate (MSG) and no preference for inosine monophosphate (IMP) whereas wild-type mice strongly prefer IMP. The response to umami signals implicates the anteriorly placed taste buds of the tongue, and not the posterior part
Does not affect growth on glucose. Mutant shows a severe growth defect on fructose
Mutant mice, born at the expected Mendelian rate, show balance impairment and hearing loss. They develop severe ataxia before 2 weeks of age associated with the absence of otoconia in the vestibular inner ear
As a result of decreased egg fertilization male knockout mice produce a 15% reduced litter size whereas female knockout mice are unaffected (PubMed:26246218). No difference in male gross organ morphology (PubMed:26246218). Reduced epithelial cell heights in the caput regions of the epididymis, resulting in increased circumferences of the epididymal lumina (PubMed:26246218). Infrequent histological abnormalities can be found in the caput epididymis, such as sperm granulomas and mineralization-like features (PubMed:26246218). Increased frequency of intraepithelial vacuoles and hyperplasia found in the cauda epididymis (PubMed:26246218). Sperm obtained from the uterus of mated females show morphologically abnormal flagella with repeated bending and zigzag patterns (PubMed:26246218). Sperm incubated in vitro show reduced motility and abnormal flagella, additionally they show a reduction in overall levels of protein phosphotyrosine levels independent of capacitation state, resulting in an overall reduction in fertilization rate of 60% (PubMed:26246218). Decrease in protein levels of HSPA5 and ITM2B in both uncapacitated and capacitated sperm, and reduction in the levels of ADAM2 in capacitated sperm (PubMed:26246218)
Decreased stem growth
Mice show significant abnormalities in synaptic plasticity as well as deficiencies in learning and memory. Pak1 and Pak3 double knockout mice display reduced brains characterized by simplified neuronal dendrites/axons and reduced synapse density
Complete perinatal lethality in homozygotes, due to severe craniofacial and skeletal defects, combined with an absence of thymus, kidneys, parotid glands and ears. Mice present multiple skeletal defects in skull, neck, rib and pelvic girdle, but no major defects in muscle development. Otic anomalies involve the inner, middle and outer ears, with malformed auricles and eardrums, malformations of the incus, malleus, and stapes, while the tympanic cavity never formed. Likewise, mice display an absence of inner ear structures. Heterozygotes present milder symptoms with low penetrance, including renal defects, similar to human BOR (branchio-oto-renal) syndrome. Increased apoptosis and loss of renal tubules seen in the developing kidney with increased immunostaining for 'Ser-139' phosphorylated H2AX. Mice lacking both Six1 and Eya1 show defects in kidney development, complete absence of hypaxial muscle, severe reduction in epaxial muscle and a 5-10-fold by volume smaller pituarity than the wild-type gland. Mice lacking both Eya1 and Eya2 display complete embryonic lethality, due to severe defects in muscle development, including the absence of a diaphragm and of ventral hypaxial muscles of the trunk and the complete absence of muscles in forelimbs and hindlimbs, similar to the phenotype of mice lacking both Six1 and Six4. While Six1 is normally expressed in these mice, it does not active transcription from cognate promoter elements, and does not activate transcription of Pax3
Mutants move more slowly off food than wild-type animals, but retain the ability to slow when encountering a bacterial lawn. Mutants exhibit significantly reduced nose touch sensation and are partially insensitive to body touch
Strand-specific deletion mutant, which disrupts only yaaW, shows no difference in growth compared with wild-type strain at 37 degrees Celsius or after heat shock. Biofilm formation is increased at 37 degrees Celsius
Reduced shoot gravitropism and defective inflorescence development (PubMed:24089437). Reduced shoot gravitropism and increased leaf angle (PubMed:24987012)
Sterile with fertilized embryos failing to develop in the gonad (PubMed:26891225, PubMed:22992455). This may be due to cytokinesis defects in embryos and increased permeability of the embryonic surface to exogenous small molecules (PubMed:22992455). Furthermore, the exocytosis of cortical granules following fertilization is delayed and only partially occurs (PubMed:22992455). Another study suggested that sterility may be due to abnormalities in the hermaphrodite sperm (PubMed:26891225). Lowers rate of spontaneous reversals in locomotion (PubMed:26891225). Decreases the number of mig-14-positive puncta in the intestine and results in mig-14 accumulation in early endosome, late endosome and lysosome structures which are adjacent to Golgi structures (PubMed:26891225). Decreases the number of glr-1-positive puncta along the ventral nerve cord, indicative of defective glr-1 trafficking (PubMed:26891225). RNAi-mediated knockdown results in cytokinesis defects in embryos and increases the permeability of the embryonic surface to exogenous small molecules (PubMed:22992455). RNAi-mediated knockdown impairs incorporation of cav-1 into the cytoplasm of cortical granules and abolishes the recruitment of sep-1 to cortical granules in embryos resulting in defective exocytosis of cortical granules following fertilization (PubMed:22992455). RNAi-mediated knockdown results in the accumulation of unsecreted cav-1-positive cortical granules near the plasma membrane of the embryo following fertilization (PubMed:22992455). RNAi-mediated knockdown disrupts seam cell division and alae formation (PubMed:33826611). RNAi-mediated knockdown suppresses the seam cell division and alae formation defects in the tbc-11 ok2576 mutant (PubMed:33826611). RNAi-mediated knockdown in glr-1 expressing neurons further reduces the number of glr-1-positive puncta in a rab-6.2 tm2254 mutant background (PubMed:26891225)
Progressive neurodegeneration (PubMed:14676324). Knockdown of Parg leads to decreased survival when animals are exposed to stress with either hydrogen peroxide or environmental hypoxia (PubMed:30100084)
Lethal between 7 and 10 dpf. Embryos show hypochromia, and circulating blood cells are pale due to a defect in hemoglobin biosynthesis
Decreased ability to complete gametogenesis
Adult females show severely reduced number of egg chambers and the small germarium in ovarioles. The rare eggs that become fertilized display gross defects in embryogenesis exhibiting fusion of adjacent segments and holes in the dorsal and ventral cuticle
Viable, with no visible phenotype (PubMed:21884719). Animals have increased levels of reactive oxygen species along with increased sensitivity to the reactive oxygen species (ROS) generator Jugalone (5-hydroxy-1,4-naphtoquinone) (PubMed:21884719). Conversely, display increased resistance to sodium azide, which is a mitochondrial poison that inhibits cytochrome c (PubMed:21884719). Animals also have morphological defects in their mitochondondria, whereby mitochondria are smaller in size, abnormally shaped, and contain fewer cristae which are irregular and disorganized (PubMed:21448454). Increased germline apoptosis characterized by an increased number of apoptotic corpses in the gonadal arms (PubMed:21448454). RNAi-mediated knockdown results in increased secretion of a beta-type insulin, daf-28 by coelomocytes and longer distal tip processes (PubMed:21448454)
pdlp1 and pdlp3 double mutant shows altered protein diffusion (measured using GFP). In pdlp1, pdlp2 and pdlp3 triple mutant there is inhibition of GFLV 2BMP tubule formation. Virus cell-to-cell movement is negatively affected. There is a 22% reduction in mean surface area of infection foci by GFLV and an approximately 12 h delay in long distance movement in comparison to wild-type plants. There is also a systemic delay in systemic Cauliflower mosaic virus (CaMV) spread. Overexpression shows a reduced-growth phenotype that correlates with transgene copy number and cell-to-cell trafficking of GFP, used to measure protein transport, is significantly impaired
Morpholino knockdown of RNF170 results in developmental defects visible by 48 hpf, including microphthalmia, microcephaly, and loss of motility. Neurogenesis in the cranium is remarkably reduced, specifically in the mid-hindbrain region
Morpholino knockdown of the protein causes increase incidence of dorsal curvature and hydrocephalus
No cellular levels increase of either WalK or WalR. Induction of WalR-dependent gene expression. Cell wall defect
Leads to reduced transcript levels of genes in the viriditoxin biosynthesis cluster and the loss of the ability to synthesize viriditoxin
RNAi-mediated knockdown in the eye disks induces a small eye phenotype and inhibits DNA synthesis (PubMed:22245183). RNAi-mediated knockdown in the salivary glands results in a reduction of salivary glands size together with decreased number and size of nuclei in the tissue (PubMed:22245183). Also causes endoreplication defects (PubMed:22245183)
Knockout Tex101 mice are viable and show no overt developmental abnormalities. Males are infertile
Knockout cells are less resistant to the DNA damaging agent H(2)O(2)
Cells lacking this gene show attenuated pathogenicity in peritoneal macrophages
Knockout animals show progressive photoreceptor degeneration. At 5 weeks of age, an approximately 60% decrease in thickness of the outer nuclear layer (ONL) and in the number of ONL neuronal somata is observed, indicating that a large number of photoreceptors have died. In some of the remaining rods, rhodopsin is appropriately localized to the outer segments, but a marked amount of rhodopsin mislocalized to the outer plexiform layer. At 8 and 12 weeks of age, increasing cell loss and further ectopic expression of rhodopsin are observed. Cone photoreceptor loss and ectopic expression of opsin in cones is also observed. Quantification of the progressive degenerative phenotype reveals a rapid loss in the number of neuronal somata in the ONL, indicative of photoreceptor death, whereas the number of cells in the inner nuclear layer, including horizontal, bipolar, and amacrine cells, is no different from that of controls
Cells lacking this gene require both aromatic amino acids (AroAAs) and p-aminobenzoic acid (PABA) for growth. In the presence of PABA and AroAAs, growth of the mutant strain laggs about 30 hours behind that of wild-type strain. By complementing the mutant strain with the expression of aroA', the strain grows in minimal medium with acetate only. Aryl acids do not replace the requirement of AroAAs for the growth of the deletion mutant strain
Impairs the production of chrysogine and 13 other chrysogine-related compounds (PubMed:29196288)
Cells lacking this gene are much more sensitive to the presence of 2-deoxyglucose in the growth medium than wild-type
Not required for cellulose synthesis in strain 1094 (PubMed:19400787). When disrupted in a cellulose-synthesizing strain (W3110 derivative with a functional bcsQ gene), cellulose is no longer made
Mutant males show multiple meiotic phenotypes such as a failure of chromosome segregation, cytokinesis and mitochondrial partition. Defects in spindle pole organization and spindle formation. Mutant-derived syncytial embryos show a range of mitotic phenotypes, including failure of centrosomes to migrate around the nuclear envelope, detachment of centrosomes from spindle poles, the formation of multipolar spindle arrays and cytokinetic defects
Newborn mice die shortly after birth from transepidermal water loss (PubMed:22038835). Defects are due to a complete loss of ultra long chain (more than C26:0) ceramides (PubMed:22038835). Newborn skin appears unwrinkled, erythematous and sticky (PubMed:22038835). Skin is also prone to C.albicans infection (PubMed:22038835)
Cells lacking this gene show a significant sensitivity to pentachlorophenol (PCP) and 2,4,6-trichlorophenol (TriCP)
Mutant mice show progressive neurological and energy metabolic decline, decrease complex III activity, increased production of reactive oxygen species, extensive astrogliosis and accumulation of ubiquitinated proteins in neurons of the thalamus. Compatible with a Mendelian autosomal recessive trait. No evidence of embryonic lethality nor evidence of obvious neuronal loss
Mice are viable and show no apparent morphological alterations in normal conditions (PubMed:26853464). Decreased palmitoyl (C16:0) ceramide pools (PubMed:26853464)
Decreased hyphal formation
Cells lacking this gene suffer severe growth defects, but also show a global shift in gene expression to anaerobic respiration. Also shows defects in translational termination via an enhanced rate of read-through of nonsense codons and induction of transfer-mRNA-mediated tagging of proteins within the cell
Shows altered chemotaxis and phagocytosis. Cells are slightly smaller, grow more slowly and do not reach the same final density at stationary phase. Affects the infection process by the pathogen L.pneumophila and allows a more efficient internalization of bacteria. Allows a more efficient uptake of dead yeast cells
Reduced myelin debris uptake by bone marrow-derived macrophages (PubMed:26463675). Conditional knockout in myeloid cells results in reduced myelin debris clearing by macrophages, delayed oligodendrocyte progenitor cell differentiation and slowern remyelination after induced focal demyelination (PubMed:26463675)
IL24-deficient mice are more sensitive to CCL4-induced liver injury than WT counterparts
Mice embryos loss approximately 50% of Islet1/Islet2+ and HB9+ motor neurons, whereas dorsal-ventral patterning events and the numbers of Olig2+ progenitors are normal. Toward the end of the cell death phase they have equivalent numbers of motor neurons as wild type embryos
Exhibits enhanced susceptibility to itraconazole, however voriconazole susceptibility is less affected
Strong defects in growth and development and most of the plants die before flowering. Viable plants have a greatly reduced seed set with a low proportion of viable seed and accumulate malonate and succinate
Cells are non-motile and non-flagellated and accumulate unglycosylated flagellin intracellularly
Reduced male fertility due to impaired pollen development and abnormal pollen exine (PubMed:25035401). Enhanced susceptibility to powdery mildew caused by the biotrophic ascomycete Erysiphe cruciferarum (PubMed:24605116)
Mutants are defective in the secretion of EsxN, PPE41 and PE_PGRS proteins
Simultaneous disruption of erfK, ybiS, ycfS and ynhG leads to loss of a significant proportion of muropeptides, including those with meso-DAP-3-meso-DAP-3 cross-links and with covalently anchored major outer membrane lipoprotein (Lpp) to the peptidoglycan. Overexpression of ycbB in this background increases meso-diaminopimelyl-3-a meso-diaminopimelyl-3 cross-links but does not restore Lpp anchoring
Deficient mice display partial neonatal and postnatal lethality, hemorrhages, impaired association of vascular smooth muscle cells with capillaries and small arteries and veins, and impaired contact between mesangial cells and renal glomerular capillaries (PubMed:17145776). The inflammatory response is reduced in an inflammatory hindlimb ischemia-reperfusion model (PubMed:26068853). Deficient mice display reduced central respiratory chemoreflex, increased apnea frequency, and blunted ventilatory responses to CO2 (PubMed:32058960)
Knockout mice are viable and do not show any macroscopically visible abnormality at birth. At day P1, however, knockout mice are shorter than their control littermates, and show misaligned upper/lower incisors and altered craniofacial development. All appendicular (forelimbs and hindlimbs) and axial (skull, vertebral column, and rib cage) skeletal elements are smaller than in control animals. The defective skeletal growth persists up to adulthood
No production of carotenoids in dark or light conditions (PubMed:21421762). Does not activate expression of TT_P0044, TT_P0049 or TT_P0070 in dark or light conditions (PubMed:25294106)
Plants react normally to ozone
Mutants lacking this gene are deregulated with respect to flavin (riboflavin, FMN and FAD) biosynthesis
Cells have a slow growth phenotype that is exacerbated at 37 degrees Celsius. Deletion mutants have a significant pre-mRNA leakage at 25 degrees Celsius
Abolishes trehalose degradation during conidial germination and delays germ tube formation (PubMed:10320571). Resistance to thermal stress (PubMed:10320571)
Impairs the synthesis of anditomin but accumulates andilesin D (PubMed:25216349)
Double knockouts for dj-1beta and dj-1alpha is viable but with reduced male fertility (PubMed:16139213, PubMed:20457924). Double knockouts for dj-1beta and dj-1alpha is more sensitive to chemical agents that induce oxidative stress (PubMed:16139213). Double knockouts for dj-1beta and dj-1alpha shows reduced lifespan and decreased spontaneous movement over time (PubMed:20457924). Double knockouts for dj-1beta and dj-1alpha spermatozoa are morphologically normal but immotile with abnormal vacuoles in the Nebenkern, abnormal mitochondria and aberrant separation of investment cones during sperm individualization (PubMed:20457924)
Cells lacking this gene accumulate tetracycline (TC) and abolishe the production of chlorotetracycline (CTC)
Expanded cell bodies and ectopic neurites in many classes of neurons. Overlap of anterior lateral microtubule (ALM) and posterior lateral microtubule (PLM) neurites along the anteroposterior axis
Reduced nuclear size associated with reduced chromocenter number and altered nuclear morphology. Plants lacking both CRWN1 and CRWN4 or both CRWN2 and CRWN4 exhibit slightly smaller rosettes. Plants lacking CRWN1, CRWN2 and CRWN4 or CRWN1, CRWN3 and CRWN4 are extremely stunted and set few seed
Retarded root growth and slight reduction in root length (PubMed:28936218). Increased sensitivity to heat stress (30 degrees Celsius), osmotic stress (mannitol) and oxidative stress (paraquat) leading to decreased seedling size and reduced root length (PubMed:28936218). Reduced activity of the oxidative phosphorylation (OXPHOS) system complex V and, in moderate heat stress conditions, of complex I and supercomplex I+III(2) (PubMed:28936218)
Mutant animals display a progressive defect in locomotion starting at the L2 stage, showing delayed response to prodding, irregular thrashing movements and a low pharyngeal pumping rate. Worms have shorter body length, convoluted intestine and develop gonadogenesis defects including loss of spermathecae, sterility and larval arrest at L4 stage. They also show abnormal cholinergic signaling leading to early onset of paralysis in the presence of aldicarb, an acetylcholinesterase inhibitor. RNAi-mediated knockdown results in enlargement of mitochondria in the body wall muscle. Muscle-specific knockdown shows an increased level of oxygen consumption
Inactivation of the gene increases fumarate-succinate exchange and fumarate uptake by DcuA and DcuB, suggesting a preferential function of DcuC in succinate efflux during glucose fermentation (PubMed:10368146). The triple mutant dcuA-dcuB-dcuC is completely devoid of C4-dicarboxylate transport (exchange and uptake) during anaerobic growth, and the bacteria are no longer capable of growth by fumarate respiration (PubMed:8955408)
In strain cv. C24, delayed flowering time during both long and short days associated with a down-regulation of the major promoters of flowering FT and SOC1. In strain cv. Columbia, no delayed phenotype
Very sensitive to temperature and medium changes; slow growth at 37 degrees Celsius on Mueller-Hinton medium for clinical strain SA564 or lab strain RN4220. No growth of SA564 grown on other media or at 42, 30 or 25 degrees Celsius. Double rnj1-rnj2 mutant grows much slower than either single mutant and only at 37 degrees Celsius
Cannot be disrupted, suggesting it is a functional antitoxin; no visible phenotype when the hipBA operon is deleted (PubMed:8021189, PubMed:20616060). A hipA or a hipB-hipA operon deletion show decreased biofilm production in the absence of antibiotics (PubMed:23329678)
Knockout mice are viable, fertile and morphologically normal (PubMed:18505825, PubMed:20596238). Increased expression of Sox11 in brain and cartilage at 14.5 dpc, with increased expression in liver and kidney at 16.5 dpc (PubMed:18505825). Increased expression of Sox4 in spinal cord and cartilage at 14.5 dpc, with increased expression in liver at 16.5 dpc (PubMed:18505825). Sox12 knockout naive CD4-positive T cells fail to differentiate into pT reg cells in mice with dextran sulfate sodium (DSS)-induced colitis (PubMed:30190287). Sox4, Sox11, and Sox12 triple knockout mice are embryonically lethal and show severe thinning and undulation of the neural tube (PubMed:20596238)
Mainly embryonic lethal (PubMed:9224715). Mutants have defective body morphogenesis (PubMed:9224715). Embryos have few or no hypodermal cells, but more neuronal and muscle cells due to defective cell divisions and cell fate specification of ABarp- and ABpla-derived and C blastomere hypodermal precursor cells of the blastomere (PubMed:9224715). Defective alae formation and bursting vulva phenotype at the L4 stage of larval development (PubMed:25816370). RNAi-mediated knockdown results in a reduced brood size, complete or half-sterility and male tail defects (PubMed:19591818). Sterility may be due to sperm infertility and sperm morphological and mobility defects (PubMed:19591818). RNAi-mediated knockdown results in flaccidity, locomotion defects, herniating gonad and gross cuticle abnormalities which may be attributed to seam cell loss, and abnormal tail morphology and reduced tail seam cells in males (PubMed:16303852). Ninety percent of embryos produced by animals fed RNAi for more than 10 hours arrest early in development (PubMed:16303852). Embryos laid 6-10 hours after RNAi administration develop to the L1 stage of larval development, but display a lumpy dumpy phenotype with reduced elt-3 expression in dorsal and ventral hypodermal cells and greatly reduced seam cells with disorganised alignment and abnormal fusion of present seam cells (PubMed:16303852). RNAi-mediated knockdown at the L1, L2 or L3 larval stages results in a general loss of structural integrity 2-4 hours following the L4 larval stage to adult molt transition (PubMed:16303852). RNAi-mediated knockdown in temperature sensitive mutants leads to abnormal dauer formation with the majority of larvae arresting and appearing dauer-like following 30-35 hours after RNAi feeding (PubMed:16303852). Surviving larvae are wider in diameter than wild-type, have reduced motility, no pharyngeal pumping, granular appearance of the hypodermal and gut cytoplasm and dauer-like gonad morphology (PubMed:16303852). 40 and 60 hours post RNAi feeding, animals demonstrate seam cell defects that manifest as cuticle abnormalities (PubMed:16303852). RNAi-mediated knockdown results in fewer seam cells and seam cell defects including cell division, proliferation and fusion abnormalities and cell fate switching (PubMed:21829390)
Death shortly after birth. Brain of mutant mice display dysplasia of the neocortex and of the hippocampus, reduction of the number of mature cortical neurons and defects of laminar organization. In the cortex, an impaired cell-division patterning during the late embryonic stage and an enhancement of apoptosis of the postmitotic neurons are observed
Embryos die around 12.5 dpc. Conditional knockout mice in which Mrf is lacking within the oligodendrocyte lineage display severe deficits in myelin gene expression and premyelinating oligodendrocytes fail to myelinate. These mice display severe neurological abnormalities and die because of seizures during the third postnatal week
Nuclei are misshapen and disorganized, with irregularly condensed chromatin and centrosomal detachment from nuclei
Larger seed size and increased seed mass and yield. Enhanced expression of starch synthesis genes in seeds leading to increased seed amylose content and altered fine structure of amylopectin. Decreased proportion of A chains results in abnormal round and loosely packed starch granules but reduced gelatinization temperature
Mice die prenatally with severe heart defects including defective atrioventricular junction and venous valves. They never initiate metanephric kidney formation. Nephrogenic mesenchyme undergo massive apoptosis, which causes a disruption of nephric duct elongation and failure of metanephric induction
Deletion or inactivation severely impairs growth in encapsulated and unencapsulated strains and leads to the formation of spherical shaped cells
Delayed flowering under both long-day (LD) and short-day (SD) conditions
Leads to decreased growth at high temperature and sensitivity to several drugs like hydroxyurea, caffeine, canavanine and rapamycin; as well as to raffinose
Plants contain 2 cells with prominent nuclei in the central region of the ovule where the embryo sac is normally located. Sometimes, an unreduced diploid female gamete, arising from apomeiosis, can be fertilized by a haploid male gamete, leading to a viable triploid embryo
Mutation affects the membrane lipid composition, particularly ornithine lipids (PubMed:21205018). Mutant is deficient in OL hydroxylation (PubMed:21205018)
Embryonic lethal, larval arrest
Fungi lacking both CMT1 and CMT2 whow attenuated virulence and reduced pulmonary colonization in mice (PubMed:23498952). Impairs growth rescue by antioxidants when cells are treated with fluconazole (PubMed:31694529)
Abolishes riboflavin uptake, cell growth less inhibited by roseoflavin
Cells grow poorly at pH 5.5 and not at all at pH 5.0 with ammonium as their sole nitrogen source (PubMed:14600241). They are unable to transport the ammonium analog methylammonium, and thus probably also ammonium (PubMed:14600241). In the absence of nitrogen source, cells lacking this gene do not show degradation of TnrA, which is entirely soluble (PubMed:17001076, PubMed:21435182)
Malignant transformation of the optic centers of the larval brain and the imaginal disks
The nadB-nadV double mutant can grow only in a minimal medium supplemented with niacin (nicotinamide or nicotinic acid)
Mutant embryos die at or before 9.5 dpc. At 7.0 to 7.5 dpc, they cannot be morphologically distinguished from wild-type littermates (PubMed:21490058, PubMed:26496195). At 8.0 dpc, mutant embryos exhibit an abnormally expanded neural plate that does not fold properly, absence of heart rudiments and posterior axis truncation (PubMed:21490058). Defects are caused by a deficit of mesoderm caused by impaired gastrulation
Impairs the production of alternariol (PubMed:26025896)
Morpholino knockdown of the protein causes unconsumed yolk sac, small eyes, deformed head, reduced lower jaw size and curly spinal cord at low morpholino doses. High morpholino doses lead to embryonic lethality
Loss of cellular aggregation
Normal phenotype. Drastic growth defects like ectopic meristem formation and sterility when associated with the disruption of RING1B
Reduced xylan content in cell wall (PubMed:17944810). Reduced amount and altered composition of seed coat mucilage (PubMed:26482889, PubMed:26834178). Plants missing both MUCI70 and IRX14 exhibit a severe reduction in both xylan- and pectin-related sugars in total seed mucilage extracts (PubMed:30228108)
No visible phenotype, due to redundancy with ESF1.1 and ESF1.3. Simultaneous down-regulation of all 3 genes by RNAi induces embryo abnormalities
Leads to the accumulation of pyranonigrin G
Reduced growth in minimal medium, possibly also affected in cysteine assimilation
Decreases myo-inositol import into cell (PubMed:18268031). Virulence is not affected in a mouse model of disseminated infection (PubMed:18268031). Simultaneous disruption of INO1 results in lethality (PubMed:18268031)
Deficient flies show developmental delay, lethality, and a dramatic decrease in the levels/activity of COX
Deletion mutant can grow on N-acetyl-D-galactosamine but not on N-acetyl-D-glucosamine
Cells lacking this gene are unable to produce clorobiocin
A transposon mutant in galU (only the first 220 residues could be expressed) allows HeLa cell invasion but no cell spreading. Shows decreased secretion of IscA, a protein required for cell spreading. The lipopolysaccharide produced is of a size consistent with it containing only lipid A and a single core component
Abolishes the production of arthripenoids but leads to the accumulation of a new compound that has a keto group at position C4
Results in enhanced production of cytokinins, including a compound which could be 8-oxo-trans-zeatin, an obvious intermediate for the parallel biosynthesis of 8-oxo-fusatin (PubMed:28802024)
Impaired response of cytotoxic T-lymphocyte (CTL) to dominant epitopes of lymphocytic choriomeningitis virus (LCMV)
Loses the ability to produce yanuthone D, but accumulates 7-deacetoxyyanuthone A and 22-deacetylyanuthone A as well as two derivatives called yanuthone H and yanuthone I (PubMed:24684908)
Embryos die early in gestation, exhibiting defects in gastrulation and mesoderm formation. Recessive lethal mutation
Animals show a 40% increase of LDL-cholesterol levels in plasma
No visible phenotype. The high redundancy of histones H3 might compensate for this mutation
Reduced fertility and slowed development. Temperature-sensitive reproduction defects
About 3.5-fold reduction of survival rate in human blood and about 2-fold reduction in mouse blood
Disruption of the gene significantly impairs intracellular uptake of L-cystine (PubMed:25837721, PubMed:20351115). Mutants show a higher sensitivity to H(2)O(2) than wild-type cells (PubMed:20351115). The tcyJ-tcyP double mutant is unable to import cystine and is completely resistant to both L-selenaproline and L-selenocystine (PubMed:25139244, PubMed:26350134). The double disruption of eamA and tcyJ increases cellular levels of lipid peroxides (PubMed:25837721)
Abnormal leaf patterning, with the abaxial mesophyll features appearing in the adaxial mesophyll domain
Decreased binding to host cells and to host collagen I under dynamic flow conditions
Eearly flowering (PubMed:23284292). Significantly reduced trimethylated 'Lys-4' of histone H3 (H3K4me3) levels at the 5'-ends of WRKY70 and LTP7 genes leading to reduced transcript accumulation (PubMed:23284292)
Viable with no gross morphological defects. Morphology of testis tissue and mature epididymal sperm is normal. Sperm counts are also normal. Sperm motility is reduced, however this has no significant effect on male fertility
Embryonic lethal. RNAi-mediated knockdown results in gonad distal tip cell (DTC) migration defects whereby DTCs do not migrate to the midbody of the hermaphrodite and as a consequence this leads to abnormal gonadal arm formation during gonad morphogenesis. RNAi-mediated knockdown specifically in gonad DTCs also result in a DTC migration defect in which DTCs migrate away from the hermaphrodite midbody on the dorsal basement membrane. RNAi-mediated knockdown in a unc-6 mutant background results in failed gonad DTC migration to the midbody of the hermaphrodite. RNAi-mediated knockdown with ina-1, mig-15 or talin in an rrf-3 mutant background results in enhanced gonad DTC migration
Cells lacking this gene do not have acetyltransferase activity and induce a degradation of proteins. Growth in succinate medium with glutamate, ammonium, urea, and proline as nitrogen sources is stopped by the addition of 200 uM MSX at the beginning of the log phase, and no further growth is observed for the next 12 h. Growth with glutamine as a nitrogen source is unaffected
Mice show severe signs of malnourishment and the majority die within the first three weeks of postnatal life. Newborn homozygotes do not show gross anatomical abnormalities, except for smaller size of the internal organs. However, necroscopy of the mice that survive past the weaning stage reveals a dilated esophagus (megaesophagus) with retention of ingesta immediately above the diaphragm level. Mutant mice also exhibit an additional defect, namely impaired smooth-to-skeletal muscle cell transdifferentiation in the abdominal segment of the esophagus. Heterozygotes by comparison are morphologically normal, viable and fertile
Elevated levels of free trihydroxy sphingoid bases as well as ceramide and glucosylceramide species with C(20) to C(28) fatty acid, but reduced levels of species with C(16) fatty acids (PubMed:21883234, PubMed:25822663). Better resistance to submergence under light conditions, but increased sensitivity to dark submergence associated with declined levels of unsaturated very-long-chain (VLC) ceramide species (22:1, 24:1 and 26:1) (PubMed:25822663). Increased susceptibility to AAL-toxin triggering programmed cell death (PCD) (PubMed:18725200, PubMed:23617414)
Homozygote Iqcf1 mice are significantly less fertile because of reduced sperm motility and acrosome reaction
Embryonic lethality: arrest at the globular stage of embryo development (PubMed:15266054, PubMed:18505803). Arrested seeds are deficient in mRNAs containing N6-methyladenosine (m6A) (PubMed:18505803)
Lethal with no survival past two weeks of age. Animals are small and show severe, progressive degeneration of pancreatic tissue associated with autophagic cell death
Displays partial derepression of activities subject to nitrogen metabolic repression
Mice are viable and fertile. No major telomere dysfunction such as telomere fusions are observed. An increased telomere fragility and recombination due to defects in HDR are however present. Mice with conditional deletion in stratified epithelia display shorter telomeres and developed skin hyperpigmentation in adulthood
Completely abolishes the conversion of phytosphingosin to glycerophospholipid
Cells lacking this gene lack L-Ara4N-modified lipid A and are sensitive to polymyxin
Shorter cilia with an irregular morphology resulting in functional defects characterized by defective movement, dauer formation, and mating behavior (PubMed:27515926). Double knockout with intraflagellar transport protein ift-43 results in defective cilium morphology and function (PubMed:28479320)
Early flowering (PubMed:12468726). No visible phenotype under normal growth conditions, but the double mutant plants fypp1 and fypp3 exhibit severe developmental defects in roots and leaves, and show defective gravitropism (PubMed:22715043)
Mice have no obvious brain abnormality, but suffer from severe ataxia with dystonia starting from P7. Adult mice lacking Cplx1 are not capable of coordinated running or swimming and exhibit pronounced resting tremor. They also fail to habituate to confinement and have reduced exploration abilities in open field
Null cells are still capable of osmoregulation and do not show any noticeable differences in their sensitivity to hypotonic conditions. Quintuple p2xA/p2xB/p2XC/p2xd/p2xE null cells exhibit a slight delay in their osmoregulatory response, but are still capable of regulating their cell volume in water. Extracellular purinergic response to ATP persists in the quintuple null cells and p2xB null cells with no alteration in the kinetics of the response, but the magnitude of the response is lower. Responses to the calmodulin antagonist calmidazolium are reduced and intracellular calcium signaling is disrupted in quintuple null cells. The presence of copper prevents both wild type and quintuple null cells from undergoing an osmoregulatory decrease in cell volume. No obvious morphological phenotype was apparent in the p2xB or quintuple p2x null strains. The quintuple null strains grow slightly slower than wild type in shaking axenic cultures
Pupals exhibit grossly abnormal epidermal hairs on wings, an abnormal accumulation of F-actin and microtubules, and disruption of the frizzled-based planar cell polarity system (PubMed:17565945). RNAi-mediated knockdown results in F-actin accumulation and moderate border cell migration delays in stage 10 egg chambers (PubMed:25308079). RNAi-mediated knockdown in border cells results in accumulation of F-actin dots, enriched with Arpc1 and GMF (PubMed:25308079). Simultaneous RNAi-mediated knockdown of GMF and flr results in an accumulation of F-actin in follicular epithelium of developing egg chambers, and in deformation of bristles in the thorax (PubMed:25308079). Simultaneous RNAi-mediated knockdown in border cells of GMF and flr enhances the accumulation of F-actin foci (PubMed:25308079)
Strongly reduces the production of patulin, shows significant slower colony expansion, and leads to the production of a distinct dark-red pigment
Enhanced susceptibility to the bacterial blight Xanthomonas oryzae pv oryzae (Xoo) and the bacterial streak Xanthomonas oryzae pv oryzicola (Xoc)
High levels of embryonic lethality, but a small proportion of the surviving progeny develop beyond the L3 larval stage (PubMed:15340062, PubMed:18949042, PubMed:29521627). Of the surviving progeny, there is a high incidence of males (him phenotype) (PubMed:18949042, PubMed:29521627). Impaired meiotic recombination with no chiasma formation between homologous chromosome pairs at diplotene and diakinesis (PubMed:15340062). This is most likely due to an absence of crossover recombination (PubMed:15340062). Disrupted rad-51 localization during meiosis, whereby rad-51-positive foci are present in the gonad similarly to wild-type, however unlike in wild-type, they disappear before the end of pachytene (PubMed:15340062)
General stress phenotype, characterized by compromised methylglyoxal (MG) scavenging, accumulation of reactive oxygen species (ROS), stomatal closure, and reduced fitness associated with reduced leaf area and dry weight, as well as prolonged flowering time (PubMed:31652571). Increased susceptibility to the pathogenic fungus Plectospherella cucumerina which triggers mainly the jasmonate (JA)-mediated defense signaling pathway (PubMed:31652571). Abnormal cross-talk between salicylic acid (SA) and jasmonic acid (JA) signaling pathways (PubMed:29852537)
Flies exhibit a G1/S block in the third larval instar with normal neuronal differentiation
Seedling lethal. Reduced ability to degrade mRNAs with premature termination codons (PTC). Increased expression of not only protein-coding transcripts but also many mRNA-like nonprotein-coding RNAs (mlncRNAs), including natural antisense transcript RNAs (nat-RNAs). Dwarf with curly leaves and late flowering. Photoperiod-dependent altered development and stress responses; in long days (16 hours light), altered organ morphologies (e.g. narrow and epinastic leaves with wide petiole, small rosette size, long seeds, some abnormal flowers and stunted stem growth), disturbed homeostasis of wounding-induced jasmonic acid and pathogen-elicited salicylic acid. Increased resistance to Pseudomonas syringae pv. tomato strain DC3000
Knockout mice mount diminished T cell-dependent contact hypersensitivity responses and display a deficiency in rejection of allogeneic organ transplants (PubMed:12615900). In hippocampus, the absolute cell numbers of microglia is significantly reduced compared to wild-type mice. Under homeostatic conditions, microglia possess a smaller cell volume, reduced cell surface area, number of branches and junctions, as well as total tree length compared to those of control mice. This specific morphology of microglia partially resembles that observed in lipopolysaccharide (LPS)-stimulated wild-type animals. Basal synaptic transmission is significantly increased in CA3-CA1 Schaffer collateral synapses in acute brain slices compared to wild-type mice (PubMed:30277599)
Disruption mutant accumulates lycopene and shows altered carotenoid biosynthesis
Disruption mutant shows accumulation of a few incomplete LPS precursors
RNAi-mediated knockdown causes defects in anchor cell (AC) and ventral uterine (VU) precursor cell specification and AC invasion in the larval L3 and L4 stages (PubMed:17215301, PubMed:17573066). RNAi-mediated knockdown on a lin-12 mutant background reverses the AC-deficient phenotype (PubMed:17215301). RNAi-mediated knockdown reduces expression of zmp-1, cdh-3 and him-4 in the AC (PubMed:17215301, PubMed:17573066). RNAi-mediated knockdown reduces expression of fos-1a in the anchor cell (AC) approximately three-fold (PubMed:32203506). RNAi-mediated knockdown causes defects in vulval morphogenesis (PubMed:17573066)
RNAi-mediated knockdown causes defects in anchor cell (AC) invasion, including increased CDK activity and re-entry of the AC into the cell cycle, resulting in the presence of two or more AC
No defects in anchor cell (AC) invasion or arrest in G1 seen upon RNAi-mediated knockdown
Cells require increased levels of Mg(2+) or Ca(2+) for growth and germination. Approximately 50% of cells without the gene contain abnormal FtsZ rings, suggesting it is involved in septum synthesis; increased levels of Mg(2+) or Ca(2+) only partially eliminate the septation defects (PubMed:9721295). Double ponA-pbpA deletions spores have greatly decreased viability, peptidoglycan synthesis and elongate poorly; increased levels of Mg(2+) increase spore viability (PubMed:9851991)
In seedlings, no altered phenotypes or changes in pectin methylation (PubMed:21725030). In contrast, suspension-cultured cells exhibit less pectin methylation as well as altered composition and assembly of cell wall polysaccharides (PubMed:21725030)
Can be deleted, however double-disruptions of polA and xni are not viable, suggesting they have a redundant essential function
Lethal during the late embryonic to early larval stages (PubMed:24603715). Hypomorphic mutants are viable but male adults are sterile, whereas female adults remain fertile (PubMed:26791243). Impairs spermatid individualization showing abnormal mitochondria morphology and defects in lipid compositions and lipid-mediated signaling (PubMed:26791243). RNAi-mediated knockdown results in low insulin pathway activity and defective cell growth in certain tissues (PubMed:24603715). Various non-adipose tissues display excessive fat accumulation such as the salivary glands, proventriculus, hind gut, Malpighian tubules and trachea (PubMed:24603715). In addition gross reduction in cell size results in smaller salivary glands, imaginal disks and brains compared to controls (PubMed:24603715). RNAi-mediated knockdown in both the salivary glands and fat body, results in decreased levels of phosphatidylinositol (PtdIns) in the whole larvae and in the salivary glands (PubMed:24603715). Whole larvae also display decreased levels of phosphatidylglycerol (PG) and increased levels of phosphatidic acid (PA) (PubMed:24603715). Larvae display low insulin pathway activity with reduced levels of phosphatidylinositol 4,5-bisphosphate (PtdInsP2) and phosphatidylinositol 3,4,5-trisphosphate (Ptdinsp3), and decreased levels of 'S-505' phosphorylated Akt1 (PubMed:24603715). RNAi-mediated knockdown specifically in the fat body, results in a decrease in PtdIns levels but there is no effect on the growth and neutral lipid storage in the fat body (PubMed:24603715). This is likely due to unknown compensatory mechanisms as there is an increase in the levels of diphosphate diacylglycerol and phosphatidylethanolamine in the fat body (PubMed:24603715)
Mutants display an increased sensitivity to oxidative stress, and a slightly increased sensitivity to ionizing radiation and UV exposure
Reduced growth (PubMed:23913686). Decreased levels of plastoquinone-9 (PQ-9) and complete loss of plastochromanol-8 (PC-8) in leaves (PubMed:23913686). Severe increase of photoinhibition at high light intensity (PubMed:23913686). The double mutants sps1 and sps2 exhibit an albino phenotype and are devoided of both PQ-9 and PC-8 in cotyledons (PubMed:23913686)
Cells missing dinJ-yafQ have reduced biofilm formation
Impairs autofusarin biosynthesis and leads to a yellow pigmentation via accumulation of the intermediate rubrofusarin (PubMed:15811992, PubMed:16879655)
Cells lacking tcsR grow normally but display reduced toxin production
Forms aberrant phialides (PubMed:19850144)
Still produces pulcherrimin, but grows poorly when producing pulcherrimin
No visible phenotype. Suppresses max2 phenotypes associated with strigolactone-D14-regulated growth. Smxl7 and max2 double mutants have reduced branching and increased inflorescence heights compared with max2 mutants
Accumulates O-acetylstemmadenine (OAS) at the expense of catharanthine and vindoline (PubMed:30256480, PubMed:29724909). Strong accumulation of stemmadenine acetate (PubMed:29724909)
Disruption of the gene abolishes the ability of the mutant to degrade (S)-6-hydroxynicotine
No visible phenotype, with seemingly normal ciliary structure, and normal transport and function of IFT proteins such as osm-6
No visible phenotype in rich medium; double hns-stpA mutants grow slower and have reduced viable cell counts compared to single hns mutants in MC1029 and MC4100 backgrounds (PubMed:8890170). In 0.3M NaCl a double hns-stpA deletion up-regulates 583 and down-regulates 86 genes, 363 of which are thought to have been horizontally acquired; 131 are also up-regulated in a double cnu-hha deletion (PubMed:23543115)
Abolishes the production of aspernidine A, but accumulates the intermediate aspernidine D
Mutant mice fed a normal chow are phenotypically indistinguishable from wild-types. Mutant mice fed coconut oil rapidly lose weight and most of them die within 3 weeks. They overaccumulate dicarboxylic fatty acids, which activate all fatty acid oxidation pathways and lead to liver inflammation, fibrosis, and death
No effect on phenanthroline induction of katG
Mutant is slightly more resistant to copper. Mutation does not attenuate growth in mice
Female heterozygous knockout mice show normal development, but 20% die in the first 3-4 months with many anomalies, including lung edema and emphysema, liver thrombi and necrosis, leukocytosis, and heart dilation. Some females die after birth; only about 50% of expected female heterozygous mice are observed at weaning. Male hemizygous knockout mice die by embryonic day 14.5 dpc with vascular defects; their blood vessels are coarse and dilated and extend aberrant branches and sprouts into somitic tissues. Male hemizygous knockout mice display severe cardiac structural defects involving ventricles, atria, and outflow tracts. Conditional Flna knockout males, in the neural crest, survive until birth but die on the first postnatal day with cyanosis; all males show abnormal cardiac outflow tracts (PubMed:17172441). Female heterozygous knockout mice present a mild thrombocytopenia and conditional Flna knockout males, in platelets display a macrothrombocytopenia (PubMed:20713593)
RNAi-mediated knockdown causes a reduction in acetylcholine (ACh) content, altered sensitivity to Aldicarb, a potent acetylcholinesterase (AChE) inhibitor, reduced expression of vesicular acetylcholine transporter unc-17 and elevated levels of reactive oxygen species (PubMed:25407930). Knockdown inhibits nuclear localization of transcription factor daf-16 (PubMed:25407930). In response to nano-polystyrene, causes decreased locomotion behavior and increased reactive oxygen species (ROS) production (PubMed:20687916). Intestine-specific RNAi-mediated knockdown causes increased ROS production and reduces expression of elt-2 and hsp-6 (PubMed:20687916). Represses the mitochondrial unfolded protein response (mtUPR) induced by exposure to nano-polystyrene (PubMed:20687916)
No visible phenotype under normal growth conditions, but roots of mutant plants are impaired in the interaction with the arbuscular mycorrhiza (AM) fungus Glomus intraradices
Constitutively activated HR-like cell death phenotype with endogenous accumulation of high levels of salicylic acid (SA) and constitutively activated defense phenotype against challenge with P.syringae. Dwarf plant with normal cotyledons, but dark brown- or black-colored cell death lesions on the true leaves
Impairs the production of geodin and of its intermediary metabolite sulochrin (PubMed:12536215, PubMed:15129726)
Induces filamentous growth and leads to decreased HWP1 expression
Severe palmoplantar keratoderma, reduced adiposity, protection from obesity on a high-fat diet, low plasma lipid levels, and neuromuscular abnormality (hind-limb clasping)
No visible phenotype, due to the redundancy with NAC086 (AC Q9FFI5). Nac045 and nac086 double mutants exhibit seedling lethality with defective development of the protophloem sieve element
No effect on ammonium uptake. Higher expression of AMT1-2; AMT1-3 and AMT2-1
Reduces the production of the immunotoxin gliotoxin (PubMed:15075281, PubMed:16151250, PubMed:17630330). Reduces the production of endocrocin (PubMed:22492455). Affects transcription of numerous secondary metabolite biosynthesis genes (PubMed:17432932). Decreases spore formation and germination (PubMed:23022264). Reduces virulence in a murine pulmonary infection model through increased phagocytosis by host macrophages (PubMed:16151250, PubMed:19917717)
Embryonic lethality at 8.5 to 9.5 dpc, due to early defects in the development of hematopoietic and endothelial cells, leading to defects in vasculogenesis and endocardium development. At 7.5 dpc, there are no blood islands in the yolk sac. Organized blood vessels are absent in the yolk sac and in the embryo
RNAi-mediated knockdown results in reduced 26S ribosomal RNA (rRNA) expression. RNAi-mediated knockdown in a ncl-1 (e1942) mutant background suppresses the enlarged nucleoli phenotype in the single ncl-1 mutant. RNAi-mediated knockdown in a ncl-1 (e1942) mutant background suppresses the increased 26S rRNA expression in the single ncl-1 mutant
Morpholino knockdown of the protein causes abnormal heart and gut looping
Abolishes sphinglolipid biosynthesis and leads to cell lysis
RNAi-mediated knockdown reduces lifespan, which is further reduced on daf-2 or glp-1 mutant backgrounds (PubMed:24699255, PubMed:27001890). RNAi-mediated knockdown causes premature onset of polyglutamine-mediated paralysis (PubMed:24699255). RNAi-mediated knockdown increases spore levels of the microsporidian pathogen N.parisii during infection, on an mxl-2 or mdl-1 mutant background (PubMed:27402359)
NFATC2-knocked down adult animals develop progressive difficulty in ambulation, fixed joint contractures and reduced joint motion, associated with joint destruction and the formation of ectopic cartilage and bone masses. Skeletal morphogenesis is normal during embryonic development. Cartilage cells from NFATC2-knocked down mice display uncontrolled growth consistent with malignant transformation
No visible phenotype at birth. Mice exhibit strongly decreased levels of hydrogen sulfide (H2S) in heart and aorta. Mice also show absence of protein sulfhydration on target proteins. Hydrogen sulfide serum levels are also lower than normal. No effect on brain hydrogen sulfide levels. Age-dependent hypertension beginning at about seven weeks of age (PubMed:18948540, PubMed:19903941). Deteriorated the loss of skeletal muscle mass in aging mice (PubMed:33826201)
Delayed transition from spikelet meristems to floral meristems and altered floral architecture. The snb osids1 double mutant, lacking both SNB and IDS1, exhibits a decreased number of branches and spikelets within a panicle, as well as a strongly delayed transition to a floral meristem, associated with abnormal spatio-temporal expression of B- and E-function floral organ identity genes in the lodicules and of spikelet meristem genes
Worms show deregulation timing of a wide range of physiological processes. This leads to an average lengthening of the worm's early cell cycles, the embryonic and postembryonic development, and the period of rhythmic adult behaviors
Plants are more sensitive to IAA conjugates
Mice lacking APELA are not represented at the expected Mendelian ratios (PubMed:28854362, PubMed:28663440). Mutant embryos exhibit around 10% to 50% incidence of incomplete penetrance of embryonic lethality (PubMed:28854362, PubMed:28663440). Fetal death is increased especially in mothers devoid of all Apela expression (PubMed:28663440). Mutant embryos show extraembryonic tissues anomalies, such as ectopic anterior chorion, mesoderm yolk sac and blood island protrusions and reduced allantois thickness at 8.25 dpc (PubMed:28854362). Mutant embryos show improper establishment of the fetal-maternal circulation, such as underdeveloped yolk sac vasculature, embryonic vascular malformations and impaired cardiac tube looping at 9.5 and 10.5 dpc (PubMed:28854362, PubMed:28663440). Show also defect in somitic vasculature at 10.5 dpc. The heart of mutant embryos show reduced coronary vessel growth at 13.5 dpc and 15.5 dpc (PubMed:28890073). The placenta of mutant pregnant mice show decreased labyrinth thickness, poor vasculature and decreased cell proliferation (PubMed:28663440). Mutant pregnant mice that survived to adulthood developed preeclampsia, including increased systolic blood pressure, proteinuria, and glomerular endotheliosis (PubMed:28663440). Mutant embryos show altered expression of several erythroid and myeloid progenitor genes at 7.5 dpc (PubMed:28854362). Mutant embryos show increased expression of hypoxia-related genes in the placenta at 10.5 (PubMed:28663440). Double knockout mice of APELA and APLN genes exhibit the same penetrance, embryonic lethality and cardiovascular malformations as single APELA knockout mice (PubMed:28854362)
High light sensitivity leading to stunted growth with pale-green leaves on agar plates, but unable to grow on soil (PubMed:29438089). Impaired photosystem II (PSII) core protein function and reduced levels of photosystem I core proteins (PubMed:29438089)
Complete embryonic lethality in homozygous dams, and 88% embryonic lethality for homozygous embryos in heterozygous dams. Only 12% of the homozygous pups from heterozygous dams are alive at birth. Mutant pups have no obvious phenotype at birth, but nearly half of them die within 48 h, and only 5% survive to adulthood. Three weeks after birth, mutant pups are runted and weigh only half as much as their littermates. Still, the weight of adult males reaches 80% and that of females 88% of that of their littermates. Besides, mutant mice display ptosis. Embryonic lethality is due to a lack of noradrenaline and can be prevented by treatment with dihydroxyphenylserine, a compound that can be converted into noradrenaline in the absence of Dbh
Opaque seed endosperm, late germination of seeds and plant retarded growth
RNAi-mediated knockdown results in defective PDA motor neuron differentiation as a result of failed Y rectal cell migration from the rectum
Defective axonal patterning of terminal processes in class IV nociceptive sensory neurons (C4da), including defective contralateral projections in ddaC and vdaB neurons, during larval development (PubMed:22084112, PubMed:21338947, PubMed:24746793). Defective larval locomotion behavior (PubMed:22084112). Defective targeting of R8 photoreceptor growth cones to the medulla layer during eye development (PubMed:27743477)
The cell shape is not significantly different from that of the wild-type
Deletion mice have reduced viability and fail to thrive early after birth. Specific components of the ER dislocation machinery are up-regulated. In addition, males are sterile due to a defect in late spermatogenesis
Mice are viable and fertile (PubMed:11533264). Compared to wild-type, they consume about 25% more food, but are leaner and acumulate less white adipose tissue (PubMed:12177411, PubMed:17127673). Their liver glycogen levels are lower than wild-type, except when their diet is supplemented with high levels of triolein (PubMed:17127673). They gain weight and accumulate white adipose tissue when their diet contains high levels of triolein (PubMed:17127673). They loose weight on a diet rich in tristearin, contrary to wild-type (PubMed:17127673). Mutant mice cannot maintain their body temperature when exposed to cold; they display hypoglycemia, depleted liver glycogen levels, and die of hypothermia (PubMed:15210843). Mutant mice display increased levels of mitochondrial fatty acid oxidation and decreased expression of genes that are important for de novo lipogenesis, especially when their diet is enriched in saturated fatty acids (PubMed:12177411, PubMed:17127673). Their brown adipose tissues shows increased lipolysis and fatty acid oxidation (PubMed:15210843). They display increased metabolic rates during the day and the night (PubMed:12177411). Liver, skin and white adipose tissue from mutant mice show strongly decreased levels of palmitoleate and reduced levels of oleate, with increased levels of saturated fatty acids (PubMed:11533264). Likewise, skin and eyelids are deficient in cholesterol esters, wax esters and triglycerides (PubMed:11533264). These defects cannot be compensated by a diet enriched in unsaturated fatty acids (PubMed:11533264). Mutant mice have decreased levels of liver and plasma triglycerides (PubMed:17127673). Likewise, the levels of triglycerides, 1,2-diacylglycerol and free fatty acids are decreased in the brown adipose tissue (PubMed:15210843). Besides, brown adipose tissue, liver and plasma triglycerides are depleted in unsaturated fatty acids and are enriched in saturated fatty acids (PubMed:15210843, PubMed:17127673). A diet enriched in triolein increases liver and plasma levels of triglycerides (PubMed:17127673). Mutant mice display lower fasting insulin levels, normal fasting glucose levels, increased glucose tolerance and increased insulin sensitivity (PubMed:12177411). Mutant mice display alopecia and atrophy of sebaceous glands and Meibomian glands (PubMed:11533264). Besides, they present a narrow eye fissure and their eyes are nearly closed (PubMed:11533264). This eye phenotype is probably due to a defect in the production of meibum, the oily material that prevents drying of the cornea. Scd1 activity is almost absent in liver, and is not compensated by expression of another family member (PubMed:11533264). Strongly reduced levels of lipids containing Delta-9 unsaturated fatty acids in the Harderian gland, leading to strongly reduced levels of 1-alkyl-2,3-diacylglycerol in the Harderian gland (PubMed:11500518)
No visible phenotype. Drip1 and drip2 double mutant shows delayed growth and development, but increased tolerance to drought stress, compared to wild-type
Deletion mutant, under conditions for the induction of nitrate respiration, is unable to perform nitrate transport (PubMed:2668029). The narK-narU double mutant is defective in nitrate-dependent growth unless nitrate transport is facilitated by the nitrate ionophore, reduced benzyl viologen (BV) (PubMed:11967075). Deletion of both NarK and NirC also decreases nitrite uptake (PubMed:11967075)
Increased level of 8-oxo-G in genomic DNA
A plasmid unable to express the start codon of this protein can be lost without detriment to the bacteria, when normally the plasmid is not lost due to the Flm plasmid maintenance system
Inactivation of the gene leads to increased susceptibility to purine ribonucleosides
Mice are born at the expected Mendelian rate, appear normal and are fertile. Mice display increased bone formation and high bone mass, due to defects in osteoclastic bone resorption. Osteoclasts display defects in actin cytoskeleton reorganization, plus altered Rho activity, microtubule stabilization and podosome organization. Mice also display increased differentiation and activity of osteoprogenitor cells. Macrophages from mutant mice display defects in their responses to chemokines, including defects in cell polarization, actin cytoskeleton reorganization, directed migration towards sites of inflammation, but also defects in the regulation of intracellular Ca(2+) levels, phosphatidylinositol 3-kinase activity and inositol 1,4,5-trisphosphate production. Mutant mice have normal B-cell polulations in bone marrow, lymph nodes and blood, but lack marginal zone B-cells in the spleen
Cells are not able to growth on xyloglucan polysaccharide, This phenotype can be directly rescued by the addition of xyloglucan oligosaccharides
Loss of growth on lysine as sole carbon source (PubMed:20833801). Inactivation leads also to a decrease of virulence showing the importance of LdcA involvement in polyamine homeostasis during infection of the host (PubMed:31653338)
Increased susceptibility to penetration of the epidermal cell wall by the non-host mildew fungal agent Blumeria graminis f. sp. hordei (Bgh) (PubMed:30102837). Some early aborted seeds and infertile ovules, and increased salt permeability in seeds associated with an increase in unsubstituted fatty acids but a decrease in omega-hydroxy fatty acids in seed coats (PubMed:24460633)
This gene cannot be deleted or disrupted, indicating this gene is essential in B.abortus
Deletion mutant is susceptible to killing by V52 strain in a VasX-dependent manner
Impairs the synthesis of austinol and dehydroaustinol and accumulates the intermediate compound preaustinoid A3 (PubMed:22329759)
No visible phenotype under normal growth condition, but in presence of Cd, increased tolerance to Cd toxicity
Flies are viable and develop until late pupal stages. Display defects in wing posture and inflation, in locomotion and climbing activities and have a reduced lifespan. Males produce immotile sperm and show defects in sperm individualization process within cysts. Display defects of polyglycylation incorporation in sperm axonemal microtubules
Results in the dramatic reduction in the endogenous levels of sphingosine
Decreased longevity, mutants living for a significantly shorter time than wild-type worms (PubMed:21151927). Reduction in fat stores and reduction in mitochondrial action potential (PubMed:21151927)
Null animals show disruption of nodal flow, laterality defects, and neural tube dorsalization. Basal bodies dock to the cellular plasma membrane, but fail to extend axonemes. However, cilia are present in the notochord, early gut epithelium, and mesenchymal cells surrounding the neural tube and in the limb bud. Null embryos develop an extra preaxial digit on 1 or both hindlimbs. Although sonic hedgehog (Shh) expression is normal, downstream signaling is disturbed, suggesting that Tctn1 is required for cilium-dependent Shh signal transduction
Exhibits enhanced susceptibility to voriconazole, however itraconazole susceptibility is less affected
Deletion mutant is shorter than wild type and shows abnormal localization of ZipA, an essential protein of cell division (PubMed:26391555). Deletion mutant is sensitive to low osmolarity (PubMed:26454142). Disruption confers resistance to cellular contact-dependent growth inhibition (CDI) CdiA of E.coli strain 869, but not to a series of other CdiA toxins tested (PubMed:26305955). Cells lacking both yciB and dcrB display pleiotropic defects, including morphological changes, elevated amounts of lipopolysaccharide, membrane vesiculation, reduced proton motive force, accumulation of outer membrane proteins at the inner membrane, and dynamic shrinking and extension of the cytoplasmic membrane accompanied by lysis and cell death (PubMed:30368949). Double mutant also displays a reduction in membrane fluidity and a marked sensitivity to copper ions (PubMed:33431434). It accumulates additional forms of Lpp and shows aberrant localization of Lpp due to inefficient lipid modification at the first step in lipoprotein maturation (PubMed:33431434)
Increased resistance to teicoplanin and vancomycin
Sensory neurons are unable to take up a fluorescent dye from the media, a phenotype that is often associated with aberrant sensory cilia
No effect on aerobic growth on succinate or in LB. 90% decreased synthesis of prodigiosin antibiotic, decreased transcription of flavoprotein desaturase PigA (PubMed:22474332, PubMed:23657679)
Enhanced disease resistance to virulent bacterial pathogen infection such as P. syringae pv tomato (Pst) DC3000 and P. syringae pv maculicola (Psm) ES4326 associated with immune gene activation
Increases cellular trehalase level during osmotic stress and thermal stress (PubMed:12943532, PubMed:15965643). Resistant to heat shock and osmotic stress (PubMed:9495778). Delays spore germination (PubMed:11094289)
Homozygous mice for the EFEMP2 gene appear to be outwardly normal (PubMed:16478991, PubMed:28508064). Homozygous mice exhibit severe lung and vascular defects including emphysema, artery tortuosity, irregularity, aneurysm, rupture, and resulting hemorrhages (PubMed:16478991, PubMed:19855011, PubMed:26178373, PubMed:28508064). Mice died perinatally (PubMed:16478991, PubMed:19855011). Mice with conditional knockout of EFEMP2, in vascular smooth muscle, grow normally, are fertile and exhibit an arterial stiffness (PubMed:19855011). Mice with conditional knockout of EFEMP2, in endothelial cell (EC) are healthy with an normal aorta (PubMed:20019329). Mice with conditional knockout of EFEMP2, in smooth muscle cells, die spontaneously at approximately 2 months of age despite absence of embryonic or neonatal lethality. Aortae exhibit large aneurysms exclusively in the ascending aorta. Aneurysms are observed with complete penetrance (PubMed:20019329, PubMed:26486174, PubMed:23636094, PubMed:26220971). Homozygous mice for the EFEMP2 gene die within 1-2 days after birth. Embryos at 19 dpc show bilateral forelimb contractures (PubMed:26711913, PubMed:26690653). Newborn homozygous mice demonstrate normal morphology of the skeleton (PubMed:26690653)
Lethal at early larval stage. Mutant larvae show intestinal defects, and a high proportion exhibit gut obstruction (gob). No visible phenotype when gob-1 is down-regulated together with the trehalose phosphate synthases tps-1 and tps-2
No effect on propagation of phage Sf6 (PubMed:22386055). Upon infection with phage Sf6, single deletion mutant has a wild-type level of small plaques with no change in bacterial survival; double ompA-ompC deletions have about 10-fold fewer plaques, survive infection considerably better than wild-type, are infected more slowly and have fewer extracellular vesicles associated with mature bacteriophage (PubMed:24673644)
Sensitive to cell wall-damaging agents SDS and Congo red
Broad spectrum of moderate ethylene-insensitive phenotypes. Reduced salt sensitivity. Delayed senescence phenotype
Mice are born at the expected Mendelian rate (PubMed:18349142). Display demyelinating peripheral neuropathy characterized by slowed nerve conduction velocity, axon degeneration, and myelin outfolding and infolding in motor and sensory peripheral nerves (PubMed:17855448, PubMed:18349142, PubMed:23297362). Defects in myelination start to appear at postnatal day 3 (P3) (PubMed:23297362). The neuropathy severity increases with age (PubMed:17855448, PubMed:23297362)
Leads to intracellular accumulation of acetate and decreases the ability to kill Galleria mellonella larvae by decreasing proliferation in the host hemolymph after infection (PubMed:29184852)
Delayed transition from the spikelet to the floral meristem, inducing the formation of extra lemma-like and palea-like organs
SLC9A2 null mice do not develop diarrhea, have no changes in quantitated intestinal Na(+) absorption, however mice develop a sharp reduction in the number of gastric parietal and zymogenic cells associated with a loss of net acid secretion in adult but not in juvenile mice (PubMed:9502765, PubMed:11099134). SLC9A2 null mice also exhibited reduced recovery from laser-induced ulceration of the stomach (PubMed:21900251). Double-knockout of SLC9A2 and SLC9A3 are not significantly different than the SLC9A3-deficient alone in diarrhea, intestinal Na(+) absorption, or reduced life expectancy (PubMed:11705743). Steady-state pH intracellular is significantly altered along the colonic crypt axis in deficicent mice (PubMed:34985202)
No visible phenotype under normal growth conditions. Gapcp1 and gapcp2 double mutants have severe dwarf phenotypes with arrested root development and male sterility. Pollen grains show shrunken and collapsed forms and cannot germinate
Mice are viable, fertile, and exhibit no phenotypic abnormalities under standard growth conditions (PubMed:12215525). Show an increase in prenatal and neonatal mortalities when essential amino acids are absent in the maternal diet during gestation (PubMed:12215525, PubMed:15213227). In response to nutrient deprivation, display reduced abilities to chronically down-regulate hepatic protein synthesis, resulting in preservation of liver mass relative to body size and enhanced skeletal muscle loss (PubMed:15213227). Mice exhibit a lowered threshold for the induction of strong and robust long-term potentiation (LTP) in the CA1 neurons of the hippocampus and the consolidation of long-term memory (PubMed:16121183). Knockout and conditional knockout in the brain result in a diminution of the rate of food consumption and an impairment in the food aversion response in mice fed an imbalanced amino acid diet (PubMed:16054071). Mice are more susceptible to intranasal Sindbis virus infection, with high virus titers in the brain compared to similarly infected control animals (PubMed:16601681). Mice infected with yellow fever virus show a decrease in dendritic cell autophagy and an impairment in their capacity to present antigens to T-cells under amino acid starvation (PubMed:24310610)
Defects in Smchd1 are the cause of the MommeD1 (modifier of murine metastable epialleles) phenotype, a semi-dominant suppressor of variegation (PubMed:18425126, PubMed:21553025). Mice display female-specific mid-gestation lethality and hypomethylation of the X-linked gene Hprt1, due to defects in X inactivation (PubMed:18425126, PubMed:21553025, PubMed:23754746). Mice do not show defects on telomeres length (PubMed:18425126, PubMed:21553025). Male mice are less affected, with some surviving to become fertile adults on the FVB/n genetic background (PubMed:18425126). On other genetic backgrounds, all males lacking die perinatally (PubMed:18425126). A subset of clustered autosomal loci display hypomethylation and derepression (PubMed:23754746, PubMed:23819640, PubMed:28587678)
Shows twitching motility. Loss of increased twitching motility at higher Ca(2+) concentrations. Forms T4P. Impaired in the calcium-mediated increase in single-cell attachment to surfaces, but biofilm formation is not affected
Retarded growth and loss of light-induced phosphoenolpyruvate carboxylase phosphorylation, but little or no effect on the metabolic flux through the anaplerotic pathway
Impaired mRNA capping activity (PubMed:26850324). Slightly impaired growth and fertility (PubMed:22242134). Increased resistance to pepper mottle virus (PepMoV) and potato virus Y (PVY) strain LYE90 but not to PVY strains N605, LYE72, SON41 and LYE84 and to tobacco etch virus (TEV) strains HAT, CAA10 and S103 (PubMed:26850324). Plants lacking both eIF4E1 and eIF4E2 display pleiotropic effect on plant development but are resistant specifically to several potyviruses including potato virus Y (PVY, strains N605, LYE72, LYE90 and LYE84), tobacco etch virus (TEV, strains HAT, CAA10 and S103), pepper mottle virus (PepMoV), Ecuadorian rocotto virus (ERV), pepper severe mosaic virus (PepSMV), pepper yellow mosaic virus (PepYMV), and potato virus V (PVV) (PubMed:27655175, PubMed:22242134, PubMed:26850324). Plants lacking eIFiso4E, eIF4E1 and eIF4E2 exhibit a semi-dwarf phenotype (PubMed:22242134)
Loss of autoagglutination, hemagglutination and aggregative adherence to human epithelial HEp-2 cells, loss of aggregative adherence fimbria I expression
Cells lacking this gene produce only bacteriochlorophyll d (BChld)
Temperature-sensitive phenotype. Defective in embryo development and embryo lethality when grown at 22 degrees Celsius. Embryo lethality phenotype rescued when grown at 29 degrees Celsius. Germination of temperature-rescued pcn mutant seeds give plants with small and narrow-shaped leaves, abnormal leaf vein patterns, altered flowering organs and defects in the root apical meristem (RAM)
Mice are characterized by reduced lifespan, and the presence of a number of pathologies characteristic of pre-mature aging and increased oxidative stress. They show impaired functional connectivity, increased oxidative damage and severe astrogliosis in the brain. They also exhibit accelerated thrombosis with elevated levels of thrombogenic factors, including VWF, SERPINE1/PAI1, and fibrinogen. Both male and female mice are infertile and male mice have low testosterone and high luteinizing hormone serum levels and a significant decrease in sperm count (PubMed:18258755, PubMed:22101268, PubMed:24270424, PubMed:24481314). Conditional knockout in myeloid cells increases the risk of sepsis lethality which is associated with elevated lactate production and CD274 expression in macrophages (PubMed:29996098). Myeloid-cell-specific BMAL1 and PKM2 double knockout reduces the risk of sepsis lethality which is associated with reduced serum lactate levels and reduced CD274 expression in macrophages (PubMed:29996098). Conditional knockout in skeletal muscle leads to impaired skeletal muscle triglyceride biosynthesis, accumulation of bioactive lipids and amino acids and reduced mitochondrial efficiency (PubMed:30096135)
RNAi-mediated knockdown largely results in sterility (PubMed:9298984, PubMed:18765790, PubMed:19109417). RNAi-mediated knockdown also results in a high incidence of embryonic lethality in the embryos produced and defects in mitosis which include the formation of chromatin bridges in between sister chromatids during anaphase (PubMed:9298984). In addition, there is reduced localization of the spindly-like protein spdl-1 to kinetochores, but not to microtubules (PubMed:18936247)
Increased number of sepals and petals in flowers. Loss of organ boundary and identity, producing fused sepals, petaloid stamens and branching stamens fused along the filament
Leads to a decreased pathogenicity in mice and increased susceptibility to killing by macrophages in vitro
Knockout mutant is susceptible to amicoumacin A
Mutant mice show subtle defects in learning (PubMed:10454353). Such learning impairments are not detectable in older mice and are not observed when mice are kept in a stimulating environment (PubMed:14511342, PubMed:15530391)
Mutants form long filaments, but DNA segregation is not affected
Loss of thalianol production in roots
Deletion of lntA leads to a decrease in bacterial colonization of spleens and livers, as well as blood bacteraemia
Leads to an increased sensitivity to stressors that affect the integrity of the cell wall and membrane, such as SDS, the antifungal agent fludioxonil, the acyclic sesquiterpene alcohol farnesol and the cell wall perturbing agents Calcofluor White and Congo Red (PubMed:23869404). Does not affect the resistance to hypo-osmotic stress but leads to a higher sensitivity to physical damage (PubMed:23869404). Results in the lack of Woronin bodies (PubMed:23869404). Attenuates virulence in a murine model of infection (PubMed:23869404)
Cells lacking this gene show a cloggy growth and do not produce the dephosphorylated and acetylated derivatives of HepGP
RNAi-mediated knockdown suppresses the hermaphrodite gonadal development and egg-laying defects in a lin-12 mutant background
Not essential for growth on low light, loss of circadian cycle and rhythmicity (PubMed:9727980). Loss of rhythmic chromosome compaction (PubMed:16707582). No visible phenotype during growth in a light/dark regime for 5-7 days (at 150 umol photons/m(2)/s). Accumulates much larger amounts of primary metabolites (especially those in and connected to the oxidative pentose phosphate pathway) in 4 hours after dark-light transition. Glycogen accumulates 4-5 hours earlier than normal, overall levels are higher, no change in glycogen degradation kinetics (PubMed:25825710)
Cells lacking this gene accumulate anhMurNAc and are fosfomycin sensitive, in contrast to wild-type P.putida, which is resistant to fosfomycin
Decreased levels of acetylated cell wall polymers and lower amounts of acetic acid in single mutant. Increased tolerance toward the necrotrophic fungal pathogen Botrytis cinerea (PubMed:21212300). Severe growth phenotypes (e.g. dwarf and abnormal flower organs) associated with reduction in the secondary wall thickening and the stem mechanical strength in the quadruple mutant rwa1 rwa2 rwa3 rwa4 and characterized by reduced xylan acetylation and altered ratio of non-methylated to methylated glucuronic acid side chains. Absence of interfascicular fibers and xylem cells differentiation (PubMed:21673009, PubMed:24019426). The double mutant rwa2 rwa4 and triple mutants rwa2 rwa3 rwa4, rwa1 rwa2 rwa3 and rwa1 rwa2 rwa4 are also dwarfs with abnormal morphology. Altered O-acetylated xyloglucans (XyG) oligosaccharides (XyGOs) composition (PubMed:24019426)
Null cells are arrested at the tight mound stage but accumulate the bright yellow pigment characteristic of mature sori. Although these mutant strains do not form fruiting bodies, many of the cells encapsulate within the mounds. Sporulation occurs about 6 hours earlier, accompanied by precocious expression of a prespore gene, spiA. However, the spores are defective and lose viability over a period of several hours. Unencapsulated cells also die unless they are dissociated from the mounds and shaken in suspension
Deletion mutants show reduced nitrate reductase activity
No visible phenotype. Mice are born at the expected Mendelian rate, develop normally and are fertile. They show normal blood cell counts, excepting reduced levels of primitive B-cell progenitors. Mice lacking both Flt3 and Kit show a reduction in both lymphoid and myeloid cell lineages. They appear normal, but are born at a lower frequency than expected and exhibit severely reduced viability after 3 weeks, none surviving more than six weeks
In stem, fewer and flatter wax crystals and disorganized cuticle proper and thinner cuticular layer. Reduced amount of wax in all chemical classes on the stem and leaf, except in the very long-chain fatty acid (VLCFA) class with acids longer than 24 carbons (C(24))
Reduction in the number of class I crossovers (COs) during meiosis (PubMed:21771883, PubMed:16394097, PubMed:24656236). Delay in the formation of synaptonemal complexes (SC) as well as a few unsynapsed axial elements in early pachytene nuclei in some meiocytes. Early nodules (ENs) are observed on the central element of SC. Reduced fertility due to altered male and female meiosis (PubMed:16394097)
Decreased sensitivity to ABA during germination, growth, and stomatal closure. Impaired central domain protoderm patterning defects, and defective cotyledon primordia cell types
RNAi-mediated knockdown results in abnormal gonad migration with aberrant turns and positioning of the distal end as well as in disorganized accumulation of oocytes in the proximal gonad arm (PubMed:17713478). RNAi-mediated knockdown also results in disruption of invariant Y-to-PDA transdifferentiation (PubMed:25124442). RNAi-mediated knockdown suppresses mitochondrial stress response mediated longevity (PubMed:27133168). RNAi-mediated knockdown reduces lifespan of floxuridine-treated animals (PubMed:21803287)
Deletion of the gene abolishes norspermidine and spermidine biosynthesis, and results in increased accumulation of diaminopropane. Deletion leads to a reduction in growth rate of planktonic cells and severely reduced biofilm formation
Morpholino knockdown of the protein disrupts both skeletal muscle development in the trunk and cranial muscle development. Disrupts myogenesis by interfering with the proliferation of dermomyotomal cells expressing pax7
Homozygous larval lethal. Adult viable flies exhibit genitalia-specific organ rotation phenotypes
Impaired in nlp20-mediated immunity
Mice were born at the normal Mendelian ratio without obvious anatomical defects but are susceptible to infection with C.albicans (PubMed:17159984). They show impaired myeloid cell activation by fungal particles (PubMed:17159984). Deficient leukocytes display impaired responses to fungi, characterized by reduced inflammatory cell recruitment after fungal infection, resulting in substantially increased fungal burdens and enhanced fungal dissemination (PubMed:32358020)
Cells are impaired for flagella-mediated motility, for invasion of intestinal epithelial cells and for persistence in the chicken intestine
Cells lacking this gene display an approximate 33% overall decline in L-proline uptake and exhibit significantly reduced virulence in several animal models, thus showing a negative impact on the ability of this pathogen to survive in vivo
Mutants cannot grow on Cl compounds (methanol, methylamine, and formate) but grow normally on C2 compounds (ethanol and ethylamine)
RNAi-mediated knockdown results in a normal first cell cycle division due to intact centrioles which are contributed by sperm (PubMed:18765790). However, during the first cycle division, centrioles exhibit duplication defects resulting in delayed nuclear envelope breakdown, the accumulation of the spindle checkpoint proteins mdf-1 and mdf-2 at kinetochores, and the formation of a monopolar spindle in the subsequent mitotic division (PubMed:18765790, PubMed:18936247). At the two-cell stage, condensed chromosomes form an arc around the single microtubule aster that is nucleated from the centrosome (PubMed:18936247). The spindly-like protein spdl-1 and the spindle checkpoint protein mdf-1 accumulate along the outer side of this arc (PubMed:18936247). After the nuclear envelope breakdown of the second mitotic division, dynein and dynactin accumulate at unattached kinetochores (PubMed:18765790)
Deletion mutant does not show a growth defect at high pH, but it shows very strong growth retardation at low pH (PubMed:32367070). At low pH, mutant displays aberrant cell morphologies, including enlarged cells, defects in the formation and localization of the division septum and abnormal cell-wall shape (PubMed:32367070). Inactivation of the gene causes structural changes in staphylococcal LTA but does not affect glycolipid synthesis (PubMed:17209021). Mutants lacking this gene display a virulence defect in a murine abscess model (PubMed:17209021)
No production of thailandamide antibiotic
Embryonic lethality due to female gametophyte development arrest at two-nuclear stage (PubMed:15634699). Seedling lethality when homozygous. Pale green leaf, variegated leaf and slow growing phenotype when grown on MS medium supplemented with sucrose (PubMed:25228689, PubMed:27047527)
Mutant cannot produce PTT. PhsB cannot take on the function of PhsC and vice versa
Mice were born at expected Mendelian ratios and appear normal but homozygous males are infertile. Spermatozoa display impaired motility due to defects in the axoneme. Sperm cells show an axonemal loop of the midpiece, supernumerary axonemes and a disrupted axonemal arrangement, as well as defective axonemes along the flagella
Full embryonic lethality. Homozygous embryos are detected at the expected Mendelian rate up to about 18.5 dpc, but there are no live pups. Mutant embryos present important craniofacial defects, including defects of the medial portion of the frontal and parietal skull bones, absence of upper and/or lower incisors, often combined with a cleft palate. Besides, mutant embryos show defects in the ossification of skeletal bones and shortened limb bones
Defect in trichome development (PubMed:7926739, PubMed:28526410). Defect in accumulation of seed coat mucilage (PubMed:7926739, PubMed:21883555). Excessive root hair formation (PubMed:8811855, PubMed:8620852, PubMed:28526410). High seed oil content phenotype (PubMed:16514561, PubMed:21883555)
Mice display a syndrome resembling to human aging, with short lifespan, infertility, atherosclerosis, skin atrophy, osteoporosis and emphysema. They have various metabolic abnormalities, including increased insulin sensitivity and decreased insulin production. Mice overexpressing Kl have increased resistance to insulin and IGF1, a lifespan extended of more than 20%, and generate fewer offspring
Leads to inviable cells
Loss of cytidine thiolation in position 32 in tRNA
Mice homozygous for null mutation exhibit defective keratinocyte differentiation, however the skin and coat appear normal
Deletion of the gene does not affect sensitivity to the amphomycin derivative MX2401, which binds UndP in the outer leaflet of the cytoplasmic membrane and prevents its recycling (PubMed:36450357). In another study, the deletion mutant exhibits moderate acid-dependent amphomycin sensitivity, but sensitivity to other antibiotics is unaltered at any pH (PubMed:36450355). The double mutant uptA-popT is growth-impaired and exhibits cell size variability, and 10% of the cells have membrane permeability defects, consistent with impaired envelope assembly (PubMed:36450357). The triple mutant lacking uptA, popT and SAOUHSC_00901 is not viable (PubMed:36450357)
No effect on the rRNA processing (PubMed:25319368). Lsg1-1 and lsg1-2 double mutants are lethal, when homozygous (PubMed:25319368)
Mutation of the gene impairs the acetylation of the N-terminal alanine of ribosomal protein uS5 (PubMed:385889). Mutant is thermosensitive (PubMed:385889)
Abnormal mRNA processing; 3' termini are cleaved but transcripts lack full-length poly(A) tails (PubMed:9819425). Decreases HO mRNA translation (PubMed:15082763)
Knockout embryos die before the 32-64-cell stage (PubMed:21349843). Melanocyte-specific knockout mice exhibit greying of the mouse coat and the accumulation of single membrane vesicle structures in melanocytes resembling multivesicular endosomes (PubMed:29584722). Myeloid cell-specific knockout micedevelop diffuse tissue infiltration of foamy macrophages, hepatosplenomegaly and systemic inflammation (PubMed:31427458). Striated muscle-specific knockout mice exhibit systemic glucose intolerance and insulin resistance at an early age but have unaltered muscle mass. From 10 weeks of age, mice progressively accumulate greater body weight and fat mass (PubMed:23673157). Platelet-specific knockout mice exhibit mild growth delay and body hair loss. Over time, they develop coarse facial features, abdominal distention, an increase in the bulk of their soft tissues and body weight gain. They also have decreased bone mineral density. As mutants aged, they remain infertile and their general body functions deteriorate. The majority die before 28 weeks of age. Animals show massive accelerated arterial thrombosis and organomegaly with inappropriate inflammatory responses characterized by macrophage accumulation in multiple tissues (PubMed:25178411)
Animals develop periportal hepatic fibrosis with biliary duct proliferation at age 11 months
RNAi-mediated knockdown causes a severe delay in larval development with most animals arrested at the L1 larval stage (PubMed:16098962, PubMed:15777697). Arrested larvae have a disorganized and larger pharynx grinder probably causing feeding defects and thus a delayed growth (PubMed:16098962)
Late-flowering phenotype and elongated internodes
Partially suppresses the constitutive disease resistance phenotype of the snc1 mutant
Mutants synergistically exhibit progressive myopathy. Overexpression of dyc-1 in dys-1 and hlh-1 double mutants, delays but does not prevent the progression of myopathy due to reduction in the proportion of abnormal muscles (PubMed:10996789). Also, reduces the locomotion and egg laying defects (PubMed:10996789). RNAi-mediated knock-down of isoform b induces a dys-1-like behavioral phenotype consisting of hyperactivity, exagerated head bending and a tendency to hypercontract (PubMed:18094057)
RNAi-mediated knockdown in follicle cells results in round eggs. Collagen type IV protein vkg accumulates in the basal cytoplasm of the follicle cells and is likely to cause the distended ER region in the basal cytoplasm
Cells missing tonB survive hydroxyurea treatment better than wild-type; further disruption of mazE-mazF and relE-relB yields even better survival (PubMed:20005847)
Deletion of the gene does not affect growth on glucose, but the mutant cannot grow in the presence of arabinose. Deletion has a negative effect on the ability of the mutant to grow on alpha-1,5-arabinobiose. AraE/araN double mutant is unable to grow in the presence of alpha-1,5-arabinobiose
Deletion mutant show missing type IV cytoplasmic dome and disc but the cytoplasmic ring is still present
Mutants generated by CRISPR-Cas9-mediated gene editing exhibit severe cardiac malformations, including defects in left-right patterning and looping and hypoplastic ventricles
Embryos show defects in heart morphogenesis: while heart development is normal at the linear heart tube stage, cardiac looping is lost at later developmental stages (PubMed:21896629). Defects during the endocardial morphogenesis, characterized by the formation of ectopic atrioventricular canal in the ventricular myocardium and endocardium (PubMed:21896630). Maternal-zygotic mutants also display muscle fiber detachment, associated with impaired laminin organization and ineffective fibronectin degradation at the myotendinous junction (PubMed:27471259). Defects in angiogenesis, characterized by embryos with no venous sprouting (PubMed:28118600)
Defecation defects
Mice are viable and have no obvious developmental defects. They are however cancer-prone and develop spontaneous tumors. They also display increased skin tumor incidence after treatment with dimethylbenz(a)anthracene
Gonads have short and swollen arms. Pharyngeal defects. Movement is lethargic
Grows more slowly in amino acid-free medium (SD), when combined with disruption of MPC2
Deficient in cardiolipin. Blocked in the import of presequence-containing proteins as well as of non-cleavable carrier proteins into mitochondria
Morpholino knockdown causes circling phenotype characteristic of hearing and balance deficits (PubMed:24803460). Causes a dose-dependent increase in auditory threshold in hair cells; simultaneous knockdown of kcnma1b does not significantly increase auditory threshold (PubMed:24803460)
RNAi-mediated knockdown causes the formation of misshapen heads as well as ectopic V6 postdeirids
Apparently no differences in the NK, CD8(+), and CD4(+) precursor and mature cell subsets in the thymus, spleen, or liver
Reduced brood size due to defects in ovulation with incomplete constriction of the sheath cells impairing oocyte transit, an accumulation of ooplasm in the uterus as a result of 'crushed' oocytes, caused by incomplete opening of the spermathecal-uterine valve, which in wild-type allows the fertilized oocyte to be expelled into the uterus, and sperm navigation defects
Macrophage-specific knockout mice have increased iron export and altered ferroportin/SLC40A1 degradation
Mice are smaller and more vulnerable indicating developmental and growth defects. Mice serum has low C4 and C3 cleavage activity together with low MASP2 activation
Male mice are subfertile with sperm showing reduced ability to penetrate zona pellucida and displaying subtle morphological deformation, including shortened apical hook, smaller apical angle and bulges in acrosome region
Impairs growth on glycerol carbon source
In double morpholino knockdown of tp53 and yju2, tp53 deficiency rescues animals from developmental neurodegeneration observed on yju2 mutants and radiosensitivity
Abolishes hyphal formation and impairs biofilm formation (PubMed:28743811). Sensitive to thermal stress (PubMed:28743811)
Variegated leaves
No growth on D-alanine, however able to grow on L-alanine. Slower than wild-type growth on a mix of alanine isomers
No visible phenotype (PubMed:12296824, PubMed:12781695). Double knockout with oma-2 results in sterility due to an oocyte maturation defect (PubMed:11702779). The oocyte maturation defect is due to a meiotic defect in oocytes in which the maturation process is initiated, but there is no progression beyond the prophase stage of meiosis and therefore the cell division process is not completed (PubMed:11702779). Animals also have a larger number of oocytes which are larger in size, but the oocytes cannot be fertilized and accumulate within the gonad (PubMed:11702779). Double RNAi-mediated knockdown with oma-2 in embryos results in more widely distributed P-granules compared to wild-type embryos, and an irregular distribution of germline proteins including pgl-1, mex-1 and pie-1 (PubMed:16611242). Double RNAi-mediated knockdown with oma-2 in larva at the L4 stage of development results in 93% embryonic lethality following the first mitotic cleavage in offspring (PubMed:16611242). Double RNAi-mediated knockdown with oma-2 in adults results in a 60% reduction in number of eggs laid (PubMed:12296824). These animals also have an expanded proximal gonad arm which contains larger number of proximal oocytes which in turn contain a larger number of germinal vesicles and higher expression of maternal mRNAs including nos-2 (PubMed:12296824, PubMed:18417623). Furthermore, after the diakinesis stage following meiosis I, the germinal vesicles have dispersed chromosomes and an abnormal distribution of P-granules (PubMed:12296824). Embryos also display cell division (PubMed:19786575, PubMed:20826530). In addition, there is increased expression of target transcripts such as taf-4 and mei-1 which also exhibit an altered localization in oocytes and embryos (PubMed:18854162, PubMed:19786575, PubMed:25261697). Reduced expression of the maternal transcriptional repressor protein pie-1 (PubMed:20826530). Double RNAi-mediated knockdown with moe-3 results in a 20% reduction in number of eggs laid (PubMed:12296824). Triple RNAi-mediated knockdown with oma-2 and moe-3 results in an 85% reduction in number of eggs laid (PubMed:12296824)
Displays slight reduction in conidiation, but normal growth, appressorium formation, and plant infection
A triple higB1-higA1-Rv1957 disruption mutant has no visible phenotype
Essential; deletion experiments lead to loss of the SecYEG translocation channel. Leads to loss of translocation of lipoproteins Lpp and BRP (PubMed:15140892) and accumulation of signal peptidase I (lepB) in a soluble fraction (PubMed:21778229)
Conditional knockout of Rac1 in the telencephalic ventricular zone of embryos leads to primary microcephaly. Self-renewal, survival, and differentiation of telencephalic neural progenitor cells is affected
Leads to hepatomegaly in liver and accumulation of abnormal organelles in hepatic cells (PubMed:15866887). Liver-specific knockout leads to loss of autophagy, increased accumulation of CRY1, decreased blood glucose levels due to impaired gluconeogenesis and the disruption of the circadian clock in the liver (PubMed:29937374)
Knockout mice are born at the expected Mendelian rate with no morphological abnormalities (PubMed:20923861, PubMed:21593405). They are characterized by spontaneous intestinal hyperplasia, inflammatory cell recruitment, exacerbation of chemical colitis induced by exposure to dextran sodium sulfate (DSS) and develop higher tumor loads in response to a combined treatment with the alkylating procarcinogen azoxymethane (AOM) and DSS (PubMed:21593405, PubMed:21543645, PubMed:21565393, PubMed:26638072). The colitogenic phenotype is associated with altered microbiota and is transmissible to cohoused wild-type mice, both early in postnatal life and during adulthood (PubMed:22763455, PubMed:21565393, PubMed:26638072). The effect on microbiota composition is however unclear, since a number of reports do not observe any difference in microbiota composition between wild-type and knockout mice (PubMed:29281815, PubMed:29281837, PubMed:28801232). Mice infected with an enteric pathogen, such as Citrobacter rodentium, show impaired clearance of the bacteria from colon (PubMed:24581500). Their intestinal epithelium lack a thick continuous overlaying inner mucus layer and exhibit a marked goblet cell hyperplasia along with abrogated mucus secretion (PubMed:24581500). When injected intraperitoneally or intravenously, knockout mice show increased resistance to Salmonella typhimurium, Listeria monocytogenes or Escherichia coli (PubMed:22763455). Mice show reduced intestinal antiviral innate immunity and are more susceptible to oral infection with encephalomyocarditis virus (PubMed:26494172). After crushing the sciatic nerve, mutant mice have a more dramatic drop in sciatic function index immediately upon surgery compared to the control group and need more time to recover fully (PubMed:26253422). Mutant animals show reduced systolic blood pressure without affecting heart rate (PubMed:20923861). Males, but not females, exhibit increased urine flow and decreased ability to reduce urinary flow under water restriction conditions compared to wild type littermates (PubMed:20923861). Mutant males may show somewhat lowered cognitive performance (PubMed:20923861)
Yellowish coloration in the leaves
Knockout males produce normal-sized litters when bred with wild-type females (PubMed:35960805, PubMed:30733280). Mutants show a partial loss of elongated spermatids and reduced motility of mature spermatozoa, but preserved fertility. Matings of male and female mutant mice exhibit reduced litter sizes (PubMed:30733280). FREY1 and SPPL2C double knockout mice are normozoospermic infertile (PubMed:35960805)
Lethality during the first hours after birth: embryos are at the expected Mendelian ratio and death takes place only after birth
Animals show normal activity and have no obvious malformations. However, necroscopy show increased liver size compared to controls, and fibroblasts show reduced numbers of enlarged peroxisomes. They show however a defect in bile acid biosynthesis and they have impaired beta-oxidation of the branched-chain pristanic and phytanic fatty acids on a phytol-loaded diet
Knockdown of klhl41b result in reduced disorganized muscle without any other significant abnormalities. Knockdown of both genes (klhl41a and klhl41b) is lethal by 3 dpf. Double knockdown fish exhibit severely disorganized muscle compared to controls and either of the single knockdowns
RNAi-mediated knockdown of isoforms a and b in neurons shows a temperature-sensitive adult onset paralysis of the distal part of the body resulting in the loss of backward movements and an inability to lay eggs. RNAi-mediated knockdown of isoforms f and k results in no obvious phenotype
Delayed chloroplast turnover and senescence induced by abiotic stress and associated with an enhanced tolerance to drought, salinity, and oxidative stress
No visible phenotype. Fold1, puru1 and puru2 triple mutant shows no photorespiratory phenotype
Unable to differentiate heterocysts, normal vegetative growth
Plants have reduced seed dormancy and several pleiotropic phenotypes, including alterations in leaf color, plant architecture and flower morphology
Embryonic lethal between E3.5 and E9.5
Defect in development of the cotyledon veins. Altered auxin homeostasis and reduced abscisic acid sensitivity. Shortened hypocotyls and expanded cotyledons in response to blue light irradiation. Precocious pollen germination within anthers. Elevated sensitivity to gravistimulation in root gravitropic responses
Strong disruption of larval thermotaxis when exposed to a thermal gradient ranging from 13.5 to 21.5 degrees Celsius with mutants unable to navigate away from cooler temperatures and toward warmer temperatures (PubMed:27126188). Reduced response of dorsal organ cool cells to cooling (PubMed:27126188, PubMed:27656904). No effect on humidity preference (PubMed:27656904)
Homozygous knockout mice display restenosis, the narrowing of blood vessels upon vascular injury
Impairs the production of tropolones (PubMed:22508998)
No visible phenotype under normal growth conditions, but mutant plants have increased susceptibility to the necrotrophic fungal pathogen B.cinerea
Normal levels of methylation at cytosine 2860 of 25S rRNA, but slight reduction of mitochondrial 26S rRNA cytosine 1586 (m5C1586)
Neonatal lethality: mice fail to thrive and most of them die by postnatal day 10 (PubMed:21606955). Mice display systemic inflammation, predominantly in the lungs, accompanied by enhanced leukocyte infiltration and alveolar destruction (PubMed:21606955)
Strong reduction of methylation of glucuronic acid in several oligosaccharide chains of plant cell wall components (PubMed:31245760). The double mutant agm1 and agm2 results in the absence of methylation on arabinogalactan glucoronic acid side chains (PubMed:31245760)
Worms either die at embryonic or larval stages (43%), or exhibit variable abnormal morphology
Deletion confers sensitivity to citric acid
Does not display the endocytic, hyphal growth, virulence, or cell wall defects exhibited by disruption in related RVS161 or RVS167
Cells lacking this gene cease to produce phospholipid and accumulate fatty acids arising from the dephosphorylation of 1-acylglycerol-3-P
Deletion of the gene causes very strong reduction in the chemotaxis toward citrate/Mg(2+) complexes
Deletion leads to loss of expression of the outer-membrane protein OprH which is part of the response towards Mg(2+) starvation
No visible effect at 37 degrees Celsius, decreased growth at 16 degrees Celsius. A quadruple disruption of all RNA helicases (cshA, cshB, deaD, yfmL) is not lethal at 37 degrees Celsius, although both 50S and 70S ribosomes are decreased, while growth stops at 16 degrees
Mutant male are infertile. Targeted disruption leads to sperm stasis and duct obstruction, resulting from dysregulation of fluid reabsorption
Mutants fail to cleave and anchor surface proteins (PubMed:10427003, PubMed:10805806). Protein secretion pathway is not affected (PubMed:10805806). Mutants are defective in the establishment of animal infections (PubMed:10805806)
Host hepatocyte invasion is reduced in knockout sporozoites; the few intracellular parasites develop and egress normally (PubMed:27425827). In infected mice, formation of schizonts and merozoite invasion of host erythrocytes are normal (PubMed:30315162). In a PKG T622Q mutant background, reduces ring formation and thus the number of schizonts (PubMed:30315162). In addition, merozoites have a discontinuous inner membrane complex (PubMed:30315162). Impaired exflagellation of male gametocytes which fails to assemble the mitotic spindle and are arrested at the first round of DNA replication (PubMed:28481199). In a PKG T622Q mutant background, male gametocytes fail to exflagellate in the mosquito vector (PubMed:30315162)
Cells lacking this gene are more sensitive to ampicillin, cephradine and cefoxitin than wild-type
Mutants are much less tolerant than wild-type cells to UV light- and cisplatin-induced DNA damage
Growth retardation, pale-green to albino phenotype and flimsy roots with less branching. Loss of uracil phosphoribosyltransferase activity
Embryonic lethal with severely defective embryonic morphogenesis with no endoderm and excess mesoderm
Cells lacking this gene retain acetoin reductase/2,3-butanediol dehydrogenase activity
Displays increased levels of spontaneous RAD52 foci in proliferating diploid cells (PubMed:18085829). A combined deletion of the LOH1/OSW4 and IRC18/OSW6 has reduced dityrosine incorporation in the outer spore wall (PubMed:23966878)
No production of mycinamicin II and accumulation of mycinamicin III
Reduced male gametophyte transmission. Abnormal pollen grains with unusual large vacuoles. Reduced pollen germination rescued by phosphatidylinositol 3-phosphate (PI3P) treatment
Defective germline population maintenance and differentiation when both Nup98 and Nup96 are disrupted (PubMed:21949861). RNAi-mediated knockdown in the larval salivary glands results in reduced transcription of developmental genes Eip74EF and Eip75B and compromised transcriptional recovery after heat shock (PubMed:20144761). RNAi-mediated knockdown in the larva results in reduced expression of Hox genes such as Ubx and Antp (PubMed:25310983). RNA-mediated knockdown in the adult fly increases viral replication of Sindbis virus (SINV), vesicular stomatitis virus (VSV) and Drosophila C virus (DCV) (PubMed:25197089)
Hypersensitive to microtubule poison thiabendazole (TBZ). Significantly increased number of interphase microtubules that depolymerize at the lateral cortex/cytoplasm and not at the cell tip. Microtubules touch the lateral cortex and become depolymerized instead of being deflected as do the microtubules of wild-type
Sensitises spores to SPOK2 encoded poison
Ectopic accumulation of lignin in etiolated hypocotyls
Mice develop normally and are fertile. ES cells derived from these mice demonstrate normal morphology, proliferation and differentiation
Cells show defects in prespore differentiation
In short-term culture, loss of the capacity to enter the dauer stage which is associated with a loss in the production of the dauer pheromone. In long-term culture, the capacity to induce the dauer stage is restored and is associated with the accumulation of long fatty acid chain ascarosides (PubMed:19174521). Intestinal expression of daf-22 restores the production of the pheromone (PubMed:19174521). Partial dauer phenotype in only half of mutants when the dauer pheromone is added exogenously (PubMed:19496754). In addition, mutants accumulate large fat granules in the intestine, have a decreased growth rate resulting in smaller adults and have a substantial reduction in brood size (PubMed:19496754)
Mutant grows on glucose but not on glycerol (PubMed:9150238). Disruption of the gene greatly reduces the level of uptake of both arsenite and antimonite (PubMed:9150238, PubMed:14970228)
Leads to defects in hemoglobin utilization as sole source of iron
No visible phenotype under normal growth condition. In case of infection, plants loose R gene resistance mediated by RPP4, RPP5, RPS2, RPS4, RPS5 and RPM1
Exhibit early chlamydospore differentiation under nutrient stress conditions (PubMed:20154111). Impairs gliotoxin production and induction of other secondary metabolism-related genes including genes encoding nonribosomal peptide synthetases, 2 polyketide synthases, an O-methyl transferase, and cytochrome P450 (PubMed:20154111). Impairs mycoparasitism (PubMed:20154111)
Slight reduction of the number of shoots produced by root explants in vitro; root explants are first cultured on an initial auxin-rich callus induction medium (CIM) followed by a transfer onto a cytokinin-containing shoot induction medium (SIM)
No growth on cobinamide (CBI); double cobB-cobT deletion mutants do not grow on CBI and DMB (PubMed:8206834)
Small number of abnormally large and heterogeneous chloroplasts sometimes exhibiting alteration in stromule length and frequency in non-green tissues (e.g. slightly increased stromule frequency in hypocotyl epidermal cells) (PubMed:30824505, PubMed:23936263). Normal shape and number of etioplasts in cotyledons (PubMed:23936263). Misexpression and mislocalization of ADT2 (PubMed:30252596). Formation of multiple MCD1 and MIND1-containing ring structures in dividing chloroplasts, instead of single ring (PubMed:29967285). Slow trunover of FtsZ ring subunits (e.g. FTSZ2-1, FTSZ2-2 and FTSZ1) in contractile rings at the chloroplast midpoint (PubMed:25731613)
Deletion of the gene abolishes 1-TbAd biosynthesis and decreases the formation of swollen phagosomes
Isotropic expansion of endodermal and cortical cells in root, etiolated hypocotyl, and dark-grown influorescent stem, and induce right-handed spiral in epidermal cell files of these organs
Grows at a normal rate, but are severely impaired in both chemotaxis and activation of adenylyl cyclase, both of which are critical for the early stages of development (PubMed:8793298, PubMed:10473630, PubMed:20493808). Unable to aggregate (PubMed:8793298)
RNAi-mediated knockdown applied to adults causes posterior morphological abnormalities in their F1 progeny (PubMed:10781051). Knockdown by feeding of dsRNA to stage L1 larvae causes defects in tail tip morphogenesis and reduces expression of dmd-3; both of these phenotypes are exacerbated on a php-3 mutant background (PubMed:21408209). Knockdown represses expression of microRNA mir-57 in the AB cell sublineages (PubMed:20824072)
Defects in germ cell development due to reduced piRNAs levels
Ablation of the gene is not viable. At 8.5 dpc, mutant homozygous embryos exhibit much reduced size, lack of heart and no optic disks. Conditional knockout in heart leads to severe mitochondrial cardiomyopathy. Premature death occurs at about 21 weeks and decreased body weight is observed from 15 weeks until death
Morpholino knockdown of the protein in early embryos results in curved bodies and small eyes. Morphants exhibit reduced ciliation in otic vesicles, neuromasts, and olfactory placodes (PubMed:31467083). In a knockout model mutant animals show head to body ratios lower than those of controls. They have decreased brain cell proliferation rate at 24 hpf (PubMed:30715179)
Leads to gain of virulence on potato lines carrying defense protein R10
Deletion results in loss of the growth advantage observed in the presence of high L-arginine in different growth media
Cells lacking this gene form 4-androstene-3,17-dione and 1,4-androstadiene-3,17-dione from sitosterol
Total loss of dopaminergic neurites and drastic reduction in dopamine levels followed by degeneration of axonal bundles in the embryonic central nervous system and subsequent nonapoptotic cell death. Also exhibits cuticular defects
Deletion results in division defects with the formation of filamentous cells and chromosome-free minicells. It causes reduced formation of Z-rings and incorrect positioning of the few Z-rings formed. Deletion does not affect chromosome replication and segregation (PubMed:23145985). Inactivation affects adventurous (A) gliding motility (PubMed:12828649)
Cells lacking this gene are not severely sensitized to RNI and display no accumulation of the proteasome substrates mpa, FabD and PanB
Prevents ub-hotspot formation and exacerbates heat sensitivity of cells deficient in Rpd3L histone deacetylase complex members (PubMed:31015336). Leads to the up-regulation of the expression of the Rpd3S complex subunit RCO1 of the Rpd3S complex and down-regulation of HSP12 and SIR2 (PubMed:31015336)
Null mutation results in the accumulation of lipid III and cell death
Flies show severe disruptions in the organization of ectodermally derived epithelia and leading in some cases to cell death in these tissues (PubMed:2344615). RNAi-mediated knockdown in the whole body or tracheae results in depletion of its binding partner sdt, twisted tracheal tubes, lack of gas filling and reduced apical surfaces of tracheal tube cells with death occurring at larval stage 2 or 3 (PubMed:30645584). RNAi-mediated knockdown in germline cells results in severe chromosomal and spindle microtubule defects such as chromosome bridges, bent chromosomes, monopolar spindles and fusion with one or more neighboring spindles (PubMed:25065591)
Shorter and fewer root hairs
Suppression of ELO-2 causes an accumulation of palmitate and an associated decrease in the PUFA fraction in triacylglycerides and phospholipid classes. This imbalance in the fatty acid composition results in multiple phenotypic defects such as slow growth, small body size, reproductive defects, and changes in rhythmic behavior (PubMed:12586704). Suppression of ELO-2 decreases growth rate and reduces brood size (PubMed:32961767)
Insertion mutant is prototroph and is able to carry out symbiotic nitrogen fixation
Weak magnetic response, very few, small magnetite-containing magnetosomes. Near wild-type localization of MamC (PubMed:24816605). Magnetosome vesicles are approximately wild-type in size, shape and chain-like alignment, only a few have crystals (PubMed:27286560). Deletion of approximately 80 kb of DNA, including this operon, leads to cells that are non-magnetic, lack internal membrane systems, grow poorly, have reduced mobility and take-up and accumulate iron poorly (PubMed:13129949)
Cells lacking this gene produce a normal lipid A structure with GalA at the 4'-position but a modified LPS core structure as this gene deletion results in the complete absence of GalA on both the 4- and 5-positions of the outer Kdo residue and incomplete addition of GalA to the Man residue. The mutant cells are also more susceptible to deoxycholic acid when compared with the parent strain, and more resistant to the polycationic antimicrobial peptide PmxB
Inactivation leads to a significant increase in glycan strand length in the mature peptidoglycan matrix
Elevation of the mitochondrial pyruvate dehydrogenase (PDH) complex (mtPDC) activity. Altered vegetative growth with reduced accumulation of vegetative tissues, early flower development and shorter generation time. Increased seed oil content and seed weight at maturity
Abolished ability to confer tolerance to stress (e.g. metals and oxidizing chemicals such as Cd, As, Cu, diamide or tert-butyl hydroperoxide (t-BOOH)) (PubMed:18980652). Early flowering under mild drought stress treatment (PubMed:31540691)
Cells lacking this gene grow similarly to wild-type in the presence of either DMSO or oxygen as the terminal electron acceptor, but are retarded in aerobic growth at 50 degrees Celsius. The lysine tRNAs of the mutant strain appear to be nonthiolated
Inactivation of this gene causes a delay in sporulation, but does not affect cell growth and the production of extracellular enzymes (PubMed:1898926). The deletion mutant does not require a hydroxypyrimidine source as it is able to biosynthesize it using ThiA; the tenA/thiA double mutant, however, is hydroxypyrimidine-requiring and is unable to salvage the pyrimidine from formylaminopyrimidine, aminopyrimidine, or base-degraded thiamine (PubMed:17618314)
Mutants are resitant to vaccinia virus (VACV) but not vesicular somatitis virus (VSV) infection. They show lower viral loads in the lungs compared to wild type mice, they produce higher levels of type I IFN, IL6 and RSAD2/Viperin after VCAV INFECTION
Blocks the production of the two major pneumocandins, A0 and B0 (PubMed:23688303). Leads to the formation of a pneumocandin A0 derivative with a myristic acid side chain as the main pneumocandin product (PubMed:27494047). Produces also tiny amounts of pneumocandin A0 derivatives with a pentadecanoic or palmitic acid side chain (PubMed:27494047)
RNAi-mediated knockdown causes arrest at various developmental stages. The few animals reaching adulthood are sterile and have a protruding vulva (PubMed:10207147). Gonads have an abnormal mitotic zone characterized by an enlargement of the distal germ cell nuclei, a reduction in the number of mitotic germ cells, a reduction in the mitotic region length and abnormal expression of gld-1 (PubMed:21455289). Embryos have persistent ruffling throughout the cortex and mislocalization of par-2, which remains cytoplasmic, and par-6, which remains distributed throughout the cortex. In 33 percent of embryos the first division is symmetric (PubMed:17115027). Production of 2 additional distal tip cells (DTC) during larval development (PubMed:17476329). RNAi-mediated knockdown in embryos causes a slight delay in cell cycle progression (PubMed:17115027)
No visible phenotype under normal growth conditions in Wassilewskija (Ws) ecotype (PubMed:11274055), but Columbia (Col) ecotype show growth defects, elevated levels of salicylic acid (SA) and constitutive defense responses (PubMed:19789277)
Leads to defects in secretion of degradative enzymes and defects in hyphal extension. Leads also to the Spitzenkoerper dissipation and accumulation of secretory vesicles
Mice lacking Jam2 do not display overt morphological, vascular or immunologic phenotype (PubMed:21868569). However, aberrant myelination of dorsal horn interneuron cell bodies is observed (PubMed:27499083, PubMed:21868569). They develop age-dependent significant walking and gait abnormalities compared to controls. Neuropathologic brain analysis show age-dependent progressive prominent vacuolization in the midbrain, thalamus, and cerebral and cerebellar cortices. These changes are associated with reactive astrogliosis, microglial activation, and a reduced neuronal density. Similar findings are observed in spinal cord sections. There is no evidence of mineralization or calcification in the brain or spinal cord of mutant mice (PubMed:32142645)
No effect on seed degreening; probably due to redundancy with SGR1. Sgr1 and sgr2 double mutant has an embryo stay-green phenotype
Conditional knockout in tachyzoites severely impairs lytic parasite growth in host cells (PubMed:30742070). Guanylate cyclase GC is unstable and remains trapped along the secretory pathway (PubMed:30742070). Tachyzoite natural and induced egress, motility and invasion are impaired (PubMed:30742070). Loss of microneme secretion in response to phosphatidic acid or a decrease in vacuolar pH (PubMed:30742070)
Pupal lethal with about 1% escapers. In mutant larvae, muscles 6 and 7 appear stringy and not anchored to other muscles or the epidermis, often these muscles are missing or unrecognizable. Sites where muscles 3, 4, 5, 8 and 16 come together are rarely recognizable and large gaps between muscles 9 and 10 can be observed. Muscle contraction waves that transverse the length of the larvae and are responsible for locomotion are much slower in mutant larvae. Mutant pupae are longer than wild type pupae. Mutant adult flies present elongated abdomen and wings with altered shapes and sizes
Neonatal lethality. The lungs of neonates do not inflate and they do not breathe. The same neonate lethality is observed with mutants that produce CARM1 protein without enzyme activity. Embryos are distinctly smaller at 18.5 dpc. They show reduced lipid accumulation in brown adipose tissue and reduced amounts of brown adipose tissue. Thymocyte differentiation is blocked at an early stage. Mutants display complete loss of protein methylation of the CARM1 substrates PABPC1 and EP300/P300
Slight anemia and defective proliferation of some hematopoietic cells, thymocytes and progenitor cells. Females are reduced in size and often sterile. Prevents the expansion of neuronally committed precursors by prematurely exiting the cell cycle and lengthening G1 phase duration, reducing concomitantly the production of newborn neurons
Mice are infertile due to meiotic arrest caused by defects in chromosome synapsis. They lack zygotene Rad51 foci, and are likely to be deficient in meiotic double-strand break (DSB) formation. In addition, mutant spermatocytes exhibit meiotic arrest at entry into pachynema, whereas oocytes progress to an abnormal metaphase I. MEI1-deficient oocytes are capable of fertilization. The zygotes are capable of initiating embryonic development but mostly arrest at the 2-4 cell stage. Among all the zygotes, approximately 5% are androgenetic and do not contain maternal chromosomes (PubMed:30388401)
No visible phenotype; due to redundancy with THE1. Herk1 and the1 double mutants are stunted. In herk1-1, shorter hypocotyls without brassinolide (BL) treatment than with BL treatment
Cells lacking this gene grow as well as wild-type cells at high concentrations (>25 mM) of acetate as the sole carbon source, but grow poorly on lower concentrations (<10 mM)
Defective in chloroplast nucleoid segregation during chloroplast divisions
Mutant mice show abnormal hair follicle ultrastructure characterized by defects in the companion layer, the inner root sheath (IRS) and hair shaft. Mutant IRS cells have large cytoplasmic cysts and pyknotic nuclei and are devoid of keratohyalin granules, whereas the cuticle is abnormally dissociated from the hair cortex and medulla, indicative of impaired hair follicle development (PubMed:27226633). Mutant mice are protected from obesity and hyperlipidemia in response to high-fat diet (PubMed:24910243)
During the asexual blood stage, causes a developmental arrest between the ring and trophozoite stages and impairs export of ring-infected erythrocyte surface antigen RESA
Dwarf, chlorina, lesion mimic, abnormal shoot, low tillering and low fertility phenotypes
Does not affect ferriaspergillin production (PubMed:29674152)
Homozygotes are semi-lethal with a few escapers displaying no visual phenotype but showing disruption of midgut homeostasis under normal conditions and enhanced tissue damage-induced midgut regeneration
Mice have no developmental defects, are fertile, and show normal T-cell differentiation. They have normal anxiety, locomotor behavior, motor function and synaptic transmission, but show defects in spatial learning and working memory. Exhibit stress-related effects with profound apoptosis-mediated germ cell loss and also, prominent retinal degeneration with photoreceptor cell apoptosis and mitochondrial oxidative stress. Mice show reduced capacity for adipocyte differentiation and impaired insulin responses
Males show normal fertility however females produce smaller litters (PubMed:28992324). Increase in the number of 2-cell embryos with asymmetric blastomeres as a result of impaired central mitotic spindle position and therefore an increase in the distance between the cellular center and the chromosomes (PubMed:28992324). Disorganization of the F-actin filament network around the mitotic spindle and loss of FMN2-expressing endoplasmic reticulum localization to the mitotic spindle periphery in zygotes and oocytes (PubMed:28992324). Mitochondria are mislocalized to the plus-ends of elongated microtubules in the subcortical cytoplasm in oocytes prior to nuclear envelope breakdown (PubMed:28992324). Loss of cytoplasmic lattices and extension of the alpha-tubulin pool into the subcortical region following microtubule-organizing center congression in oocytes (PubMed:28992324)
Deletion mutant mice develop severe macrocytic normochromic anemia and ineffective erythropoiesis (PubMed:21346251). More than 90% of mice die by 10 to 12 weeks of age (PubMed:21346251)
Leads to rapamycin resistance when grown on glutamate as the sole nitrogen source
Leads to about 40 percent reduction of xylanase activity when grown in culture with xylan as carbon source
Worms exhibit disruption of coelomocyte endocytosis
RNAi-mediated knockdown results in decreased lifespan
Mutant mice are resistant to mechanical hyperalgesia and have increased levels of anti-inflammatory cytokines
Reduced rosette size, early leaf senescence, enhanced resistance to the biotrophic pathogen Pseudomonas syringae, increased susceptibility toward necrotrophic Alternaria brassicicola and constitutively elevated salicylic acid (SA) levels
RNAi-mediated knockdown in distal tip cell (DTC) causes DTC morphological and guidance defects such as precocious dorsal turns, a failure to reach the vulva and a bloated distal gonad (PubMed:19023419). Embryos at the comma, 1.5-fold and 2-fold stages have increased number of cell corpses due to a defect in cell engulfment (PubMed:20226672). RNAi-mediated knockdown with mig-38 results in enhanced gonad DTC migration (PubMed:22732572)
Impaired heat-induced decrease of SGS3 levels and delayed SGS3 degradation associated with abolished heat-dependent early flowering and trans-acting siRNA (tasiRNA siR255 and siR1511) accumulation (PubMed:30778176). Lost heritable transgenerational thermomemory (PubMed:30778176)
RNAi-mediated knockdown results in truncated or shorter excretory canals, and also truncated ALM axons that fail to extend above the nerve ring, truncated PLM processes and abnormal VNC axon patterning
Mice are viable and fertile, but show loss of 5-methylcytidine(38) in tRNA (PubMed:21183079, PubMed:22885326). Mice lacking both Nsun2 and Trdmt1 display a complete loss of cytosine-C5 tRNA methylation, leading to development defects and impaired cellular differentiation causing lethality before P3 (PubMed:22885326)
Loss of plant growth and root system architecture responses to the rhizospheric Phyllobacterium
Mutants can still grow on nitrobenzene
No visible phenotype. Affected nucleus positioning in guard cells
RNAi-mediated knockdown in males prevents migration of the linker cell (LC) during larval development resulting in abnormal gonad migration (PubMed:9851916, PubMed:19906858). At the L3-to-L4 molt stage, the LC fails to reach the P7.p hypodermal cell and fails to perform the turn from the dorsal to the ventral side of the body. During the late L4 stage, the LC turns ventrally but stays farther behind its normal position (PubMed:9851916, PubMed:19906858). In addition, LC polarization, which normally occurs during the L3-L4 stages, is severely delayed and mig-2 polarization to the adherent side of thr LC is impaired (PubMed:19906858). In the LC, expression of unc-5 at the L3 and L4 larval stages is increased and expression of zmp-1 is absent at L4 stage (PubMed:19906858). Prevents non-apoptotic cell death in the LC (PubMed:27472063). Knockdown enhances LC survival on egl-20, eor-1, or lin-29 mutant backgrounds (PubMed:27472063). Causes precocious expression of let-70 in the LC during larval stage L3 (PubMed:27472063). RNAi-mediated knockdown in hermaphrodites causes no defect in distal tip cell migration (PubMed:19906858)
Viable and fertile (PubMed:19170756). No significant effect on body weight or nutrient absorption (PubMed:19170756). Morphology of intestinal epithelium cells appears to be normal (PubMed:19170756). Double knockouts with APC heterozygotes, a model for intestinal tumorigenesis, show reduced adenoma growth (PubMed:19170756). Double knockouts with IL10, a model of inflammatory bowel disease, show significantly increased colonic inflammation in the presence of commensal bacteria and reduced survival rates (PubMed:26195794)
Depletion of ccdc32 using CRISPR-Cas9-mediated gene editing results in disrupted cardiac looping in embryos at 2 dpf, reduced number and length of cilia in Kupffer's vesicle, and in a significant reduction of head size at 3 dpf. Furthermore, ccdc32 crispants exhibit significant alterations in facial skeletal morphology and have hypoplastic cerebella
Alterated pistil morphogenesis, such as twisting of the gynoecium (PubMed:24173806). Double mutants sub/scm poq and qky sub/scm have a stronger pistil twisting than single mutants (PubMed:24173806). The triple mutant qky sub/scm poq has a dramatic pistil twisting phenotype due to defects of valve cell growth anisotropy (PubMed:24173806)
Mutant cells produce about 3% of tetrahydropteridines when compared to wild-type production. They display retarded growth, poor spore viability, impaired mitochondrial function, and increased susceptibility to oxidative stress induced by hydroxylamine or cumene-hydroperoxide. In another mutant, it was found 18% of BH4 and 0.6% of DH4 production of the wild-type level
Disruption of only this gene, or of the lrpG-Rv1410c operon leads to increased levels of many triacylglyceride alkylforms; up to 100-fold increase depending on the exact form (PubMed:26751071). Cells grow more slowly on lipid carbon sources, conditions thought to mimic infection, and grow more slowly in infected mice (PubMed:26751071). Disruption of the preceeding gene lprG leads to loss of expression of Rv1410c due to polar effects; in infected BALB/c mice 1.5 and 2.5 log decrease in bacterial load 15 and 35 days after infection (PubMed:14998516). The single lprG mutant increases sensitivity to malachite green, sodium dodecyl sulfate (SDS), isoniazid, ethambutal and ethidium bromide, alters the permeability of the cell wall; both genes are required to fully restore the phenotypes (PubMed:21762531). Single lprG deletion mutant (probably without Rv1410c) has decreased surface-exposed glycolipid lipoarabinomannan (LAM), although cellular LAM content is normal (PubMed:25232742, PubMed:25356793). It also forms smaller colonies on agar (PubMed:25232742). Loss of surface LAM has several consequences; bacteria enter mouse macrophages with reduced efficiency and block mouse macrophage phagosome-lysosome fusion less efficiently than wild-type (PubMed:25232742). Reduced efficiency of mouse macrophage phagosome-lysosome fusion was seen in another study (PubMed:25356793). C57BL/6 mice infected with mutant bacteria have 10-fold less bacterial burden after 10 days and about 2700-fold less burden after 70 days; attenuation of mutant is not rescued in macrophages or mice impaired for reactive oxygen or nitrogen generation (disruption of Ncf1 or iNOS) (PubMed:25232742, PubMed:26751071)
Mutant mice are born with an expected Mendelian ratio and looked grossly normal. However, both females and males are sterile, ovaries and testes being completely devoid of germ cells
Mutant is unable to produce linear DHBS compounds
Gpr15lg deficient mice in an imiquimod-induced psoriasiform dermatitis model develop less intense itch phenotype than wild type 1 day after imiquimod treatment and afterward, and display less severe capillary leakage and less skin hyperplasia after 5-day imiquimod treatment
Loss of ability to restrict the accumulation of protochloro-phyllide (Pchlide) and delta-amin-olevulinic acid (ALA) in the dark, leading to a strong Pchlide fluorescence in etiolated mutant seedlings exposed to blue light. Rapid bleaching and death of plants transferred from the dark to the light, mediated by singlet oxygen production and enzymatic peroxidation of linolenic acid
Plants display helical rotation of several organs
Grows normally in liquid culture, traffics into host (human and mouse) acidified compartments early after phagocytosis, suggesting it no longer arrests phagosome maturation as well as wild-type, impaired growth in mouse macrophages (PubMed:20844580). Decreased synthesis of 2,3-di-O-acyltrehaloses (DAT) and increased synthesis of sulfoglycolipids (SGL) (PubMed:20844580). Decreased colonization of mouse lung but not spleen 42 days after infection (PubMed:20844580)
Leads to increased sensitivity against H(2)O(2) and menadione (PubMed:17921349, PubMed:27748436). Attenuates antifungal susceptibility to voriconazole (PubMed:20376564). Does not show attenuated virulence in a murine model of Aspergillus infection (PubMed:17921349, PubMed:18608886)
Axon guidance defects of nerve ring-associated interneurons that extend their axons posteriorly into the right ventral nerve cord as well as defects in the axon guidance of D-type motor neurons that project their axons longitudinally along the ventral nerve cord. No axon guidance defects are observed for the AVG midline neuron
Mice show a lack of osteoclast and foreign body giant cells multi-nuclear formation and a bone-resorbing efficiency reduction. Mice show increased bone mass. Older (>12 months) mice suffered from multisystemic inflammations in the kidney, lung and salivary gland. Mice show autoimmune symptoms, like dendritic cells (DC) with increased phagocytotic activity and antigen presentation
Cells lacking this gene have no or very low levels of de-N-acetylated sugar moieties in peptidoglycan. Mutant cells have normal growth in logarithmic and stationary phases at various temperatures and in different growth media and normal morphological appearance. The rate of autolysis of the cell wall peptidoglycan induced by EDTA, Triton-X, lysozyme or mutanolysin is significantly faster and the mutant cells have a slight increase in susceptibility to beta-lactam antibiotics ampicillin, penicillin and octacillin compared to wild-type
Pancreatic beta-cells-specific knockout results in hyperinsulinemia and hypoglycemia
Enhanced susceptibility to pathogen Pseudomonas syringae pv. phaseolicola
Reduced requirement for exogenous sugar for seedling growth and higher rates of true leaf development
Mutant is unable to grow on minimal medium supplemented with mannitol and shows increased sensitivity to the redox-active superoxide-generating agent methyl viologen (paraquat)
Mutant males inappropriately court other males, whereas mutant females are less receptive to courting males
Strong overall decrease of alanine aminotransferase activity, especially in roots
Reduced lifespan
Altered plant architecture, including increased number of tillers, enlarged panicles, and increased grain yield per plant
Morpholino knockdown results in severe defects in embryonic development. Nearly all embryos display pericardial edema. Most embryos display abnormal body shape and size, defects in heart morphogenesis, impaired mobility, and die at about 7 dpf. The embryonic cardiac muscle and skeletal muscle show defects in the association of the actin-myosin myofibers with the myocyte membrane (PubMed:18174465). Likewise, morpholino knockdown results in defective angiogenesis, with abnormally short and thin vessels and very little blood flow (PubMed:21378273)
Absence of both LpoA and LpoB leads to a decrease in peptide cross-linking and to cell lysis
Increases the percentage of focal complex positive cells
Impaired antisense-RNA-mediated gene silencing. Early flowering
RNAi-mediated knockdown in a sydn-1, eri-1 and syd-2 mutant background suppresses ectopic axon branches and synapse defects and causes sterility
Cells lacking this gene display a slightly enhanced ability to grow into medium containing high levels of copper
Knockout Ly6k mice are viable and show no overt developmental abnormalities. Males are infertile
Knockout mice have considerably lower frequencies of CD4(+) and CD8(+) single positive thymocytes, and concomitantly higher frequencies of double positive thymocytes (PubMed:26195727). TRAF3IP3 deletion also affects regulatory T-cell transcriptional programs and stability (PubMed:30115741). In addition, mice show a severely compromised potential to induce interferon production and are vulnerable to RNA virus infection (PubMed:31390091)
Deletion mutant is nonchemotactic (PubMed:12142407). Mutant is not attenuated for virulence in C.elegans whereas in vitro motility and chemotaxis are severely impaired (PubMed:19662168)
RNAi-mediated knockdown in the whole body or respiratory system during development is lethal (PubMed:22157008). RNAi-mediated knockdown in hemocytes, amnioserosa, mesoderm or digestive system and reproductive tract causes no defect (PubMed:22157008)
completely abolishes conidia formation and leads to the formation of compact white colonies (PubMed:25530311). Produces extremely elongated and immature phialides with defective morphology (PubMed:25530311)
Knockdown of CFAP91 does not affect the cell morphology and the flagella appears normal in number and length. However, flagella exhibit an abnormal axoneme with a rotated central pair complex (CPC) and an impaired flagellar motility
No expression of OmpC or OmpF during growth at 0% sucrose, low expression of OmpF at 15% sucrose (PubMed:3056929). Single deletion of envZ has no OmpC or OmpF at 0% sucrose, low levels of OmpC and very low levels of OmpF at 15% sucrose. Deletion of both ompR and envZ leads to loss of both OmpC and OmpF expression at 0% and 15% sucrose (PubMed:2277041)
RNAi-mediated knockdown leads to suppression of molting defects in a nekl-2(fd81);nekl-3(gk894345) double mutant background
Allelic exchange at the chromosomal MSMEG_6386 locus of M.smegmatis can only be achieved in the presence of a rescue plasmid carrying a functional copy of MSMEG_6386 or Rv3792, strongly suggesting that this gene is essential
Inactivation of kdpD results in decreased transcript level of cap
Inactivation of this gene leads to altered colony morphology and growth, attenuation of persistence and increased susceptibility to amoxicillin-clavulanate both in vitro and in the mouse model during the chronic phase of infection. Loss of both ldtMt1 and ldtMt2 results in phenotypes that are unique and/or severe compared to the single mutants lacking only ldtMt1 or ldtMt2. The double gene deletion severely alters cellular shape, intracellular morphology, physiology and virulence: the length of mutant cells are shorter than wild-type, they have deep surface depressions and bulges, they possess large unstained vacuole-like structures, the thickness of the peptidoglycan layer is smaller, the protein localization is altered, and in vitro and in vivo growth and virulence are severely attenuated. Moreover, double-mutant cells are more sensitive to vancomycin and amoxicillin-clavulanate
Dwarf plants due to the lack of internode elongation. Insensitivity to brassinolide
Leads to diminished in vitro and in vivo O-mannosylation activity
Reduced survival rate after injection of LPS (PubMed:25328665). Appl1 and Appl2 double knockout mice are viable and grossly normal with regard to reproductive potential and postnatal growth (PubMed:26445298)
Impaired acute acceleration of locomotion speed upon rapid increase in oxygen levels (from 0% to 5-20% oxygen). In double mutants for both rhy-1 and hif-1, normal increase in locomotion speed is restored
Homozygous knockout mice lacking Slc30a3 do not display overt phenotype with morphology, body weight, lifespan, fertility, litter size being normal (PubMed:9990090). Zinc ions are eliminated from synaptic vesicles in brain of the knockout mice and the overall levels of zinc in brain is decreased (PubMed:9990090)
Narrow leaf phenotype (PubMed:18562767). Reduced leaf blade width and plant height (PubMed:18562767). Altered internode elongation pattern (PubMed:18562767). Altered vascular patterns in leaves and culms (PubMed:18562767)
Morpholino knockdown of the protein at the four cell stage disrupts body left-right asymmetry at the level of the heart, gall bladder and gut (PubMed:29478852). The left-right organizer, a transient ciliated epithelium of the gastrocoel roof plate, displays abnormally short cilia and disruption of the normal cilia orientation toward the posterior pole of cells, leading to disordered flow direction and reduced flow velocity. Additional phenotypes include delayed neural tube closure due to impaired convergent-extension of dorsal marginal zone tissue, and a transient delay in the ciliation of multi-ciliated cells in the larval skin, suggesting that planar cell polarity pathways are affected. Combined morpholino knockdown with sub-phenotypic doses for myo1d and vangl2 disrupts left-right axis formation, with predominantly bilateral expression of pitx2 (PubMed:29478852)
Displays morphological changes and shows increases in adherence to and engulfment by host macrophages. Causes dramatic defects in cryptococcal morphology, stress tolerance, and virulence
Mice do not develop dermatitis upon Il31 overexpression (PubMed:15184896). Decreased levels of immature myeloid progenitor cells in bone marrow and spleen but normal numbers of circulating blood cells (PubMed:17379091)
Normal sensitivity to DNA damaging agents (PubMed:26704385). Mild UV sensitivity in the gen1 send1 double mutant (PubMed:26704385)
Mice develop normally until they are weaned but from then on exhibit growth retardation and early mortality. Pathological examination indicates that multiple organs fail and that they die from severe renal failure by the age of 14 weeks
Homozygous knockout mice Kiaa0319l are normal
Decreased testicular betaine and increased choline and phosphatidylcholine concentrations. Only one of eleven males was able to reproduce, impaired fertility was due to diminished sperm motility
Mutants have general chemotaxis defects in media that are low in magnesium
Not affected by disruption of tphA2II, however the tphA2I/tphA2II double mutant no longer grows on TPA
Impaired nuclear movement. Abnormal nucleus shape with invaginated envelope
Cells lacking this gene lose the ability to grow on both vanillate and syringate
When the gene is deleted the strain no longer inhibits 5'-processing of pre-tRNAs with short (<5 nucleotide) leaders in the absence of rppH (PubMed:28808133). The truncated allele encoded by this protein has a slight growth defect, which is slightly exacerbated when combined with an rppH deletion (PubMed:28808133). The truncated allele suppresses the loss of viability conferred by deletion of RNase 2 (rnb) during stationary phase at 31 and 42 degrees Celsius or starvation at 42 degrees Celsius (PubMed:28625967)
Slightly impaired growth and fertility (PubMed:22242134). Plants lacking both eIF4E1 and eIF4E2 display pleiotropic effect on plant development but are resistant specifically to several potyviruses including potato virus Y (PVY, strains N605, LYE72, LYE90 and LYE84), tobacco etch virus (TEV, strains HAT, CAA10 and S103), pepper mottle virus (PepMoV), Ecuadorian rocotto virus (ERV), pepper severe mosaic virus (PepSMV), pepper yellow mosaic virus (PepYMV), and potato virus V (PVV) (PubMed:27655175, PubMed:22242134, PubMed:26850324). Plants lacking eIFiso4E, eIF4E1 and eIF4E2 exhibit a semi-dwarf phenotype (PubMed:22242134)
Cells show pre-mRNA splicing defects. Cdc28-P8 temperature-sensitive mutant causes cell-cycle arrest in G2 and exhibits a splicing defect that leads to accumulation of unspliced precursors at the restrictive temperature. Temperature-sensitive pre-mRNA splicing mutant Prp8-1 exhibits a cell-cycle phenotype identical to cdc28-p8. Prp8-1 mutant produces elongated cells, accumulates U6 snRNA precursor and has defects in an early step of TFIID pre-mRNA splicing at the nonpermissive temperature
Deficiency leads to perinatal lethality and defective neural development. One third of the fetuses show exencephaly and spina bifida as well as defective kidney development
Abolishes the production of phthiocerol dimycocerosate (DIM) on the cell envelope
Morpholino knockdown of the protein in embryos results in developmental defects from 48 hours post-fertilization onwards, including reduced eye and head size, a curved body, small jaw, and loss of the swim bladder
Reduced chlorophyll accumulation, defects in chloroplast development and abnormal hypocotyl gravicurvature
No visible phenotype (PubMed:28400174). Decreased hypocotyl length (PubMed:33604650). Delayed flowering associated with reduced FLOWERING LOCUS T (FT) and CONSTANS (CO) levels due to increased H3K9me1/2 level at CO locus (PubMed:33604650)
Morpholino knockdown in embryos results in reduced tRNA modification with decreased levels of mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine) (PubMed:32023806). Morphant larvae display a ventrally curved body where somites present a distortion of their typical chevron shape, being rounded with a different angle compared to controls (PubMed:32023806). Morphants also show disruption of the horizontal myoseptum, diminished somite area, disorganised muscle fibers, a small neural tube and reduced Shh signaling activity (PubMed:32023806). One study has shown that morpholino knockdown in embryos at 27 hpf results in abnormal motor neuron axonal branching and length (PubMed:18996918). However, another study observed shortening in only 5% of motor neurons at 27 hpf and normal length by 48 hpf (PubMed:32023806)
Seedling lethality. Albino seedlings unable to grow under photoautotrophic conditions
Morpholino knockdown in early embryos results in abnormalities in the development of the cartilaginous pharyngeal skeleton and eventually results in death upon exhaustion of the yolk (PubMed:12464617). Abnormalities include deformed and thinned Meckel's and palatoquadrate cartilages, deformed ceratohyal cartilages and disorganized branchial cartilages (PubMed:12464617). Morpholino knockdown in one- to four-cell stage embryos results in an open mouth phenotype (PubMed:12464617). Morpholino knockdown in one-cell embryos results in reduced survival in response to bacterial infection with E.tarda, but does not decrease caspb activation (PubMed:30150286). Morpholino knockdown in larvae results in no abnormalities in the brain, eyes or pectoral fins (PubMed:12464617)
Cells grow more slowly, cells stall in predivisional stage, about half eventually divide. Abnormal inititation of extra rounds of DNA replication. CcrM methyltransferase is present at all stages of the cell cycle, at least partially responsible for the above phenotypes
Disruption of this gene does not lead to any detectable phenotypic changes regarding the growth under gluconeogenic conditions (medium supplemented with pyruvate) and glycolytic conditions (medium supplemented with soluble starch)
No visible phenotype. However, flies are hypersensitive to the cold, hyperphagic and display elevated triglyceride stores resulting in an increased resistance to starvation. Heat production is impaired and flies are slow to recover after cold treatment. The size of the lipid droplets in larval fat bodies are significantly increased and flies display increased feeding. Total body glycogen is also significantly increased in adult females but not in males. Mutants also display an increase in calcium-dependent SERCA activity. No effect on levels of circulating sugars, glucose and trehalose
Cells lacking this gene are deficient in biotin synthase (BioB) activity in vivo due to accumulation of 5'-deoxyadenosine
Abolishes the production of aspernidine A, but accumulates the intermediate aspernidine E
Cells grow normally in the absence of iron; double knockouts of this gene and futA1 (slr1295) grow very poorly in the absence of iron and have a marked reduction in their ability to take up Fe(3+)
No visible phenotype at 4 months (PubMed:30538141). At 10 months, gradual loss of body weight, increased liver size and reduced adipose tissue mass (PubMed:30538141). These phenotypes further progress to 18 months with significantly smaller body size, hepatomegaly, increased intracellular vacuolation in liver tissues, markedly reduced adipose tissue with small adipocytes, accumulation of autophagy receptor Sqstm1/p62 and autophagy-related protein LC3 in liver, and accumulation of ubiquitinated insoluble proteins (PubMed:30538141)
Embryonic lethality. Embryos die during early embryogenesis
Suppresses protein aggregation and toxicity caused by protein aggregates
Cells lacking this gene are unable to produce PABA
Cells accumulate a small amount of 4-androstene-3,17-dione (AD) and 9alpha-hydroxy-4-androstene-3,17-dione (9OHAD) in the first 24-48 hours of cholesterol degradation process
Severely decreases growth on trehalose carbon source, simultaneous disruption of AGT1 or NTH1 abolishes growth
Fam50a depletion results in early neurogenesis defects, abnormal anterior development impacting the brain, eyes and cartilage apparent at day 5 post-fertilization (5 dpf), and lethality occurring by 6 dpf
Normal resistance to F.oxysporum (f.) matthioli in cv. Columbia. The double mutant rfo1 rfo2 is strongly susceptible to F.oxysporum
Delayed senescence. Increased sensitivity to abscisic acid (ABA)
Deficient mice display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects
Knockout mice are infertile. Males lacking SOHLH1 display disrupted spermatogonial differentiation into spermatocytes and show a strong down-regulation Lhx8 and Neurog3/Ngn3 genes (PubMed:16564520). Females display perturbed follicular formation, probably partially due to down-regulation of Nobox and Figla, 2 genes required for folliculogenesis (PubMed:16690745). Fertility could be restored by conditional expression of a SOHLH1 transgene after the onset of meiosis (PubMed:28504655)
No visible phenotype (PubMed:23613767). Tmk1 and tmk3 double mutants, tmk2 and tmk3 double mutants, tmk3 and tmk4 double mutants, tmk1, tmk2 and tmk3 triple mutants and tmk2, tmk3 and tmk4 triple mutants have no visible phenotypes (PubMed:23613767). Tmk1, tmk3 and tmk4 triple mutants have a severe reduction in organ size, a substantial delay in growth and development, and a decrease in fertility (PubMed:23613767). Tmk1, tmk2, tmk3 and tmk4 quadruple mutants are embryo lethal (PubMed:23613767, PubMed:24578577)
Flies exhibit defective responses to environmental stressors, such as heat and the free-radical-generating agent paraquat
GLRA2 morpholino knockdown leads to axon hyperbranching of spinal motor neurons at 24 hpf
Mutant embryos show brain myo-inositol deficiency and central apnea and die soon after birth due to hypoventilation
Unable to develop apical hook in the dark. Reduced length of dark-grown hypocotyls and reduced leaf initiation rate in light-grown seedlings
Mutant male larvae die at the third instar larval stage with a severe reduction in polyadenylation and increased mitochondrial tRNA levels except for tRNA(Cys) which shows a marked reduction and an accumulation of shortened RNAs. Mutant male larvae show de novo translation of some peptides, suggesting that polyadenylation is not required for translation. They also show reduced assembly and activity of repiratory chain complexes I and V. Heterozygous females are viable and fertile as the gene is X-linked. RNAi-mediated knockdown results in reduced larval body weight, death at the ferrate stage or soon after eclosion and severely reduced polyadenylation in larvae
Additional root cap layers; increased number of columella (COL) and lateral root cap (LRC) cell layers in the mature embryo and in the postembryonic state. Lateral cap cells continue to divide and fail to detach from the root
In hcf107-2, reduced accumulation of 5'-end-processed psbH transcript, as well as psbB translation, resulting in disruption of photosystem II (PSII) and seedling lethal plants. Specific loss of processed RNAs with a 5' end 44nt upstream of the psbH start codon in the psbB-psbT-psbH-petB-petD gene cluster
Morpholino knockdown of the protein induces cardiac contractile dysfunction and loss of motoneuron formation
Mutant plants accumulate phenylalanine and caffeic acid esters
RNAi-mediated knockdown in the whole body, neurons, glia or muscles is lethal (PubMed:32645003). RNAi-mediated knockdown in mushroom bodies affects the morphology of the alpha- and beta-lobes as well as ellipsoid bodies (PubMed:32645003). RNAi-mediated knockdown in the wing pouch results in severe wing development phenotypes and increase of miR-252-5p expression (PubMed:25892215)
Abolishes the production of scytalone
Does not affect the production of flavoglaucin and congeners
Reduced seed size
Mutants with simultaneous deletion of PPE25/PE18/PPE26/PPE27/PE19 genes have a slight growth defect at 100 mM phosphate in defined media, and at 30 mM phosphate, growth is severely impaired. Knockdown of PE32 or PPE65 in PPE25/PE18/PPE26/PPE27/PE19 deletion mutants result in a severely impaired growth in phosphate-limiting media
Knockout leads to lethality at 11 dpf, with knockout larvae exhibiting abnormalities in various retinal layers including the inner plexiform layer, the outer nuclear layer and the rod photoreceptor layer and decreased function of the photoreceptor cone cells (PubMed:30157172). Morpholino knockdown results in reduced eye size with proportionately decreased lens size, thinner inner plexiform layer and outer nuclear layer after 36 hours post fertilization (hpf) (PubMed:30157172). No change in the inner nuclear layer, but increased apparent thickness of the ganglion cell layer (PubMed:30157172). Reduced number of rod cells, with existing rod cells exhibiting an abnormal morphology or pyknotic appearance, decreased opsin levels and disrupted photoreceptor cell bodies (PubMed:30157172)
Mutants exhibit defects in midgut morphogenesis, imaginal disk development and embryonic dorsal-ventral patterning that are very reminiscent of dpp mutant phenotypes
Leads to folinic acid auxotrophy, and lacks any detectable specific enzymatic activity
Leads to strong defects in host cell damage in a model of human oral epithelial cells, increased survival of infected mice, and aberrant filamentous morphology
Cells lacking this gene induce increased IL-12 and reduced IL-1beta and IL-10 cytokine responses, which sharply contrasts with the immune responses induced by wild-type M.tuberculosis (PubMed:25847237). They are also more susceptible to autophagy in macrophages (PubMed:25847237). Consequently, animals infected with the TlyA-deficient mutant M.tuberculosis organisms exhibit increased host-protective immune responses, reduced bacillary load, and increased survival compared with animals infected with wild-type M.tuberculosis (PubMed:25847237). Disruption of this gene leads to capreomycin resistance (PubMed:15673735)
Formation of embryos with altered dorsal-ventral patterning, dramatically decreased levels of ea in the perivitelline space and reduced processing of ea
Increased sensitivity to tobamoviruses (ToMV,TMV)
Mice are more susceptible to salmonellosis, but not listeriosis
Deletion of yfcF decreases the resistance of the bacteria to hydrogen peroxide
Mice show no significant difference of viral resistance or augmented antiviral responses compared to WT when both are infected with virus
Pro-sigma-K processing is delayed by approximately 30 minutes, and sporulation efficiency is reduced approximately two-fold
Results in a significantly reduced expression of orsA and orsD, and in complete loss of orsellinic acid production, during response to Streptomyces rapamycinicus
Abolished myoblast fusion
RNAi-mediated knockdown causes an increase in phosphatidylinositol-3-phosphate at the apical plasma membrane of intestinal cells
No visible phenotype under normal growth conditions, but mutant plants have reduced levels of DNA in both mitochondria and plastids. Double homozygous mutants polIa and polIb are sterile
Cells lacking this gene are viable, have no defect in growth, but produce fewer spores, slightly longer cells and show an increase in cell chain formation. Also exhibits some resistance to moenomycin (PubMed:19648239, PubMed:19666716). Mutants lacking both murJ and amj have a lethal defect in cell wall synthesis (PubMed:25918422)
Mice are impaired in the elaboration of sialyl 6-sulfo Lewis X in HEV. Lymphocyte homing to peripheral lymph nodes, mesenteric lymph nodes, and Peyer patches are significantly reduced. Simultaneous knockdown of CHST4 and CHST2 results in lower contact hypersensitivity response when compared to wild-type littermates
Cells have an aberrant response to waves of cAMP stimulation
Leads to reduced growth on benzoic acid (Ref.5). Growth is also reduced on benzaldehyde, benzyl alcohol, and cinnamic acid (Ref.5)
Cells lacking this gene and ftsX, the next gene in the operon, delay sporulation onset, as a result of which they form a medial rather than polar septum at the onset of sporulation. This is presumably due to slower phosphorylation and activation of the spo0A transcriptional regulator. However, at later time points these cells undergo polar division and eventually form smaller than wild-type mature spores
No visible phenotype (PubMed:15169895). Mice are viable and fertile for up to five generations, with no apparent changes in telomerase activity or telomere length (PubMed:15169895)
Wild-type growth at 37 degrees Celsius, at 18 degrees grows much more slowly, reaches stationary phase at a lower cell density, seriously decreased amounts of 70S ribosomes. A double bipA-uup deletion has a more severe growth phenotype, low 70S ribosomes but higher amounts of 50S ribosomal subunits than the single bipA deletion. The growth phenotype is suppressed by low ectopic expression of Uup
Decreases c-di-AMP levels in mid-exponential phase from about 3.8 uM to about 2.8 uM in strain BG214 (PubMed:25616256). No change in sensitivity to methyl methanesulfonate (MMS), decreased survival after UV irradiation in transition and stationary phase, strong decrease in competence (PubMed:9141693). Cells lacking this gene show a reduced c-di-AMP level compared to wild-type and cannot properly trigger the DNA damage response (PubMed:21566650). No effect on antibiotic sensitivity to the beta-lactam antibiotic cefuroxime (CEF), upon overexpression of the c-di-AMP phosphodiesterase GdpP increased sensitivity to CEF (PubMed:22211522). Double disA-cdaA mutants cannot be made, suggesting they are lethal, while double disA-cdaS and cdaA-cdaS mutants are viable (PubMed:22211522, PubMed:23192352). Depletion of cdaA in double disA-cdaA deletion cells leads to cell lysis (PubMed:22211522). Exponentially growing cells are 100-fold more sensitive to MMS, no change in response to H(2)O(2) or nalidixic acid; a double disA-radA deletion suppresses H(2)O(2) sensitivity of the radA mutant, but has no effect on MMS sensitivity, suggesting radA and disA might work in the same DNA repair pathway (PubMed:25616256)
RNAi-mediated knockdown does not result in fertility defects
Loss of Pcad activity
Severe microvesicular hepatic steatosis, sustained activation of Ppara, spontaneous massive peroxisome proliferation and eventual development of hepatocellular carcinomas (PubMed:20195242). Null mice have strikingly increased levels of both n-3 and n-6 very long chain polyunsaturated fatty acids (over twenty-four (24) carbons long) (PubMed:11855929)
Leads to decreased susceptibility to a number of hydrophilic antibiotics including ampicillin, cefoxitin and tetracycline (PubMed:19721064). Deletion of ompF confers resistance to colicin E5 (PubMed:27723824)
Not essential. Cells have a 5-X decrease in mycothiol reduced form (MSH)/ mycothiol oxidized disulfide form (MSSM), an indicator of a more oxidzed cytoplasm
Low pungency phenotype, characterized by low levels of capsaicinoids, and accumulation of high levels of capsinoids, which are non-pungent capsaicinoid analogs
Impaired pollen germination and pollen tube growth thus leading to disrupted male transmission
Mice die of congestive heart failure at 13 dpc with a syndrome of tricuspid atresia that includes an absent tricuspid valve, a large atrial and ventricular spetal defects, an elongated left ventricular outflow tract, rightward displacement of the aortic valve and pulmonic stenosis. These mice also display hypoplasia of the compact zone of the left ventricle
Enhanced thermal sensitivity and increased levels of Trpv1 in lumbar sciatic nerves and spinal cord (PubMed:26915043). Elevated short-term fear response, enhanced long-term spatial memory, dendritic spine enlargement and elevated levels of Dlg4/Psd95, Gria1 and NMDA receptor subunits Grin1, Grin2a and Grin2b (PubMed:26074071). Conditional knockout in the adult forebrain results in viable mice with no gross neurological defects which display normal locomotor, exploratory and anxiety behaviors but have impaired long-term memory, impaired long-term synaptic plasticity and increased levels of Gria1 and Gria2 (PubMed:26074003)
RNAi-mediated knockdown enhances the excessive seam cell proliferation phenotype of the ain-1 ku322 mutant
Disruption is viable and exhibits no overt growth defects, but produces morphologically aberrant cells, particularly in cell filaments induced by aztreonam
Disruption mutant exhibits a partial growth defect under nitrogen limitation when molecular nitrogen is used as the sole nitrogen source
Loses the ability to produce phenalenone, and accumulates prephenalenone as the predominant product
Defective egg-laying and slow, but coordinated locomotion when stimulated. Reduced levels of both unprocessed and processed luminal and transmembrane cargo in the motor neuron axons of the dorsal nerve cord. Double knockout with either rab-2, rund-1 or vps-50 results in reduced levels of both unprocessed and processed luminal and transmembrane cargo in the motor neuron axons of the dorsal nerve cord
Some mutant animals die in utero, but most die postnatally, about half before weaning as a result of pulmonary hemorrhage. Midgestation mutant embryos show cardiac defects characterized by invagination of the ventricular cavity into, and often through, the compact layer of ventricular myocardium. The septal myocardium is similarly honeycombed by endothelial-lined extensions from the ventricular cavity, a defect accompanied by the presence of ventricular septal defects in most late-gestation embryos. Neonatal mice also show defective cardiac integrity manifested by a blood-filled pericardial sac, due to the rupture of the low-pressure atrial chamber of the heart. Cardiac or pulmonary integrity defects are observed in half of the animals. About 10% of neonatal mutant mice exhibit dilated lymphatic vessel malformations
Simultaneous knockout of wtf14 results in normal vegetative cell population growth (PubMed:32032353). Simultaneous knockout of wtf14, wtf11 and wtf7 results in normal spore viability (PubMed:32032353)
Mice appear healthy and normal, but display mildly decreased glucose tolerance and impaired glucose-stimulated insulin secretion (PubMed:15220191). Pancreatic islets from mice lacking both Ptprn and Ptprn2 contain decreased numbers of insulin-containing vesicles and show a further decrease in insulin secretion after glucose stimuli (PubMed:21732083). Mice lacking both Ptprn and Ptprn2 appear normal, but have lower levels of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. Likewise, they have decreased numbers of synaptic vesicles in the hippocampus and show decreased neurotransmitter release after K(+) stimulation; basal levels of neurotransmitter release are unaffected. They show increased anxiety-like behavior with strongly decreased exploratory activity and rearing. Besides, they show defects in remembering conditioned learning. With increasing age, mutant mice develop a tendency to suffer seizures and display a reduced life span; roughly half of the mutant mice are dead after 40 weeks (PubMed:19361477). The majority of female mice deficient in both Ptprn and Ptprn2 are infertile or have small litters, due to abnormalities of the estrous cycle and absence of corpora lutea. These defects are due to decreased levels of luteinizing hormone and follicle-stimulating hormone (FSH) in the pituitary and decreased levels of luteinizing hormone (LH) in the blood plasma. In contrast, male mice lacking both Ptprn and Ptprn2 display normal hormone levels and normal fertility (PubMed:16269463)
Null cells are delayed in multicellular development and highly defective in pstA-specific gene expression
Embryos display peripheral heart edema and tail defects along with ciliopathy-related phenotypes, including hydrocephalus, abnormal ear otolith formation and smaller eyes
Leads to vacuolar defects as well as defects in the terminal steps of autophagy, when PCR1 is also deleted (PubMed:29514932). The PCR1/ATG42 double deletion abrogates also the production ofphytochelatin and the degradation of glutathione-S-conjugates (PubMed:17408619, PubMed:19897216)
Important mortality during the postnatal period; about 40% of the mutant mice survive. Mutant males are infertile; they have strongly reduced testis size and fail to produce mature sperm cells. Developing spermatids fail to become polarized, and do not form acrosomes
Impaired innate immune response
Disruption of phnA alone yields 22-34% pyocyanine. Double trpE-phnA disruption requires anthranilate or L-tryptophan for growth on minimal medium and does not make pyocyanine (PubMed:2153661). Double phnA-phnB deletions are tryptophan prototrophs; they make less PQS (PubMed:23449919)
No visible growth or morphological phenotypes, with the exception of shorter siliques. Loss of alpha-xylosidase activity and altered xyloglucan composition
Impairs the ability to of metabolize 2-benzoxazolinone (BOA) and thus growth BOA-amended media
Severe loss of unracil exision activity. Increased number of germ-cell corpses in response DNA damage induced by ionizing radiation
Embryonic lethality due to division arrested at one-cell zygotic stage
No sporulation-related phenotype
No visible phenotype under normal growth conditions, but the double mutant sec5a-1 and sec5b-1 is male gametophytic lethal due to defect in pollen germination and pollen tube growth
Mutant lacking this gene can grow in the presence of 0.1 M LiCl, but not in the presence of 0.6 M LiCl
Mutant exhibits higher sensitivity to different DNA-damaging agents. It shows altered phosphoprotein profile and impaired DSB repair. Deletion affects expression of genes involved in intermediary metabolism, stress response and growth under stressed conditions
Disruption of the gene eliminates the osmotically stimulated proline transport activity and practically abolishes the ability to use proline as an osmoprotectant
Displays impaired motility of cilia/flagella (PubMed:34553759). Adult males are infertile due to immotile sperm with flagella that lack dynein arms and display axoneme disruption (PubMed:34553759). However, the testes appear normal in shape and contain elongating flagellar bundles of spermatids (PubMed:34553759). Larvae fail to react to tone stimulus due to defective auditory/vibration mechanotransduction (PubMed:34553759). RNAi-mediated knockdown in the sensory neurons of females results in uncoordinated locomotion during climbing (PubMed:34553759)
Abolishes synthesis of the polyketide mycotoxin fumonisin B1 (FB1), severely decreases macroconidia production, results in hydrogen peroxide sensitivity, and decreases virulence in maize kernels
Mutants show a drastic decrease in sporulation efficiency. Polar septation is delayed and less efficient, and the completed septa are thicker than those of the wild type. Mutants are also unable to undergo engulfment
No visible phenotype under normal growth conditions, but mutant plants are extremely susceptible to the necrotrophic fungal pathogen B.cinerea
Mice lacking Taar4 show an absence of aversion to low concentrations of volatile amines and to the odor of predator urine
The disruption mutant displays growth in medium with L-leucine but cannot grow with D-leucine
Deletion mutant has a reduced ability to utilize a number of di- and tri-peptides as nitrogen sources, displays reduced motility and reduced agglutination compared to wild type
Mice are viable and fertile; no gross morphological or histological abnormalities, or defects in hearing ability are detected in homozygous mice (PubMed:11313460). Double homozygous SIX1 and SIX4 knockout mice die soon after birth and show developmental defects in various organs (PubMed:15955062). Double homozygous SIX1 and SIX4 knockout mice causes severe defects in the trigeminal ganglia (PubMed:16938278). Double homozygous SIX1 and SIX4 knockout mice exhibit more severe kidney phenotypes than the SIX1 knockout mice. Double homozygous SIX1 and SIX4 knockout embryos show distinct morphological changes: fusion of the lateral lingual swellings is delayed, and the tongue is poorly developed. The primordia of fungiform papillae appears earlier, and the papillae rapidly increases in size; thus fusion of each papilla is evident. The circumvallate papillae show severe defects: invagination of the trenches starts asymmetrically, which results in longer and shorter trenches (PubMed:21978088). Double homozygous SIX1 and SIX4 knockout neonatal mice have a male-to-female sex-reversal phenotype in XY mutant gonads (PubMed:23987514). Double homozygous SIX1 and SIX4 knockout neonatal mice are characterized by severe craniofacial and rib defects, and general muscle hypoplasia (PubMed:15788460)
Partial seed abortion due to defects in megagametogenesis (PubMed:24667993, PubMed:25330379). Defects in pollen viability (PubMed:25330379)
Hypersensitivity to abscisic acid (ABA). Confers defense priming against pathogens and stresses such as E.cichoracearum, H.parasitica and P.syringae pv. tomato DC3000. This enhanced resistance is associated with a faster induction of several defense responses, including callose deposition and host cell death, in a salicylic acid- (SA-) dependent manner, as well as a strong elicitation of stress-induced MPK3 and MPK6 activity. Enhanced stress responses and spontaneous necrotic lesions under drought conditions. In contrast, reduced resistance to the non-adapted hemibiotrophic C.gloeosporioides and higher susceptibility to the host-adapted pathogens C.higginsianum and necrotrophic A.brassicicola. These phenotypes are rescued by disruption of KEG
Does not affect the itaconic acid nor 2-hydroxyparaconate production (PubMed:26639528, PubMed:27750034)
Does not induce any observable growth defect but impairs the production of both mellein and O-methylmellein
Cells fail to grow in the absence of oxygen or sterols
Modified starch composition. This phenotype is enhanced when associated with SBE2.2 and SBE3 disruptions
Homozygous knockout mice show early embryonic lethality
Seedling lethality (PubMed:26432861, PubMed:28751900). Severe reduced growth, strong reduction of levels of plastoquinone-9 (PQ-9), and loss of plastochromanol-8 (PC-8) in leaves when grown on MS medium supplemented with sucrose (PubMed:26432861, PubMed:28751900). Severe decrease of photosynthetic performance and higher levels of reactive oxygen species (ROS) under cold stress (PubMed:26432861, PubMed:29741733)
Pups die about 2 weeks after birth with growth retardation and heart failure. Accumulates ITP in erythrocytes. Accumulates inosine in RNA and deoxyinosine in DNA
Embryonic lethal; embryos die before 7.5 days of gestation
Silencing by small interfering RNA (siRNA) leads to reduced protective effect conferred by non-pathogenic E.coli infection prior the subsequent infection by lethal and highly virulent pathogen Photorhabdus luminescens TT01. Speeds the rate at which insects die after the pathogen infection
Delay and reduction in levels of evening-phased clock gene transcripts and long circadian period
Growth retardation leading to small dwarfed plant and reduced tuber yield. Young developing leaves contains a reduced number of larger cells than controls, whereas at later stages, during expansion growth, the cell size is abnormally small
Morpholino knockdown causes severe defects in the development of the central nervous system, including enlarged hindbrain ventricles resembling a brain ventricular hydrocephalus-like edema phenotype (PubMed:21349154). Increased cell proliferation of glial fibrillary acidic protein (GFAP)-positive cells in the developing central nervous system (PubMed:21349154)
Probably essential, it cannot be deleted
Smaller lateral organs including cotyledons and leaves
Reduced proliferation of lymphocytes, reduced interferon-gamma production by splenocytes and reduced neutrophil numbers following Helicobacter infection
Embryonic lethal before day 3.5 postcoitus (E3.5)
Inhibits ethylene induction and promotes P.sojae infection in soybean
Mutants have no defect in cAMP signaling or motility, but are unable to respond to a spatial gradient with directed movement
Male sterility due to defects in pollen development leading to deformed and collapsed nonviable pollen grains (PubMed:18392777). Increased susceptibility to the bacteria Pseudomonas syringae, characterized by stronger necrotic symptoms (PubMed:25083911)
Decreases the level of cutinase cut4 during oxidative stress
Causes a modest increase in azole resistance but does not exhibit altered susceptibility to cycloheximide or caffeine
No visible growth phenotype, but shortly after entry into stationary phase the nitrogenase subunitsare destabilized and are no longer detectable (PubMed:7830548). In vitro nitrogenase is highly sensitive to O(2) (PubMed:7830548, PubMed:10220344)
Reduced pigmentation of cell colonies and lack of fully reduced isoprene chains of membrane phospholipids and glycolipids
Simultaneous disruption of INO1 lowers hyphal density and leads to a severe sporulation defect and attenuated virulence in a murine inhalation model of systemic infection (PubMed:20689743). Simultaneous disruption of ITR1A results in defective mating hyphae, reduces production of phosphatidylinositol and glucuronoxylomannan, reduces laccase activity, and increases expression of ITR1, ITR2, ITR3, ITR3A, ITR3B, ITR5 and ITR6 (PubMed:21398509, PubMed:23592982, PubMed:25201772). Simultaneous disruption of ITR3C impairs the ability of the fungi to traverse the blood-brain barrier and leads to attenuated virulence in a murine inhalation model of systemic infection, and the brain infection models by tail vein or intracerebral injection (PubMed:23592982, PubMed:21398509, PubMed:25201772)
No visible phenotype. Eye morphology appears to be normal with no significant effects on lens transparency and refraction. Expression levels of the connexins Cx46 and Cx50 in lens tissue are slightly reduced
Leads to abnormal splicing of introns featuring long spacing between the branchpoint and 3'-splice site (PubMed:36095128). Disrupts association of cay1/cactin with spliceosomes (PubMed:28947618). Sensitive to genotoxic stress by hydroxyurea, valproic acid, sodium butyrate, and cadmium (PubMed:28947618). Sensitive to cold and thermal stress; simultaneous knockout of tls1 exacerbates the growth defect (PubMed:36095128, PubMed:28947618)
No visible phenotype in normal conditions. Defective for thermotolerance to moderately high temperature (TMHT at 35 degrees Celsius), but normal basal thermotolerance (BT), short-term acquired thermotolerance (SAT) and long-term acquired thermotolerance (LAT) at 37 and 44 degrees Celsius
Embryonic lethality after 13.5 days post coitum (dpc) due to mitochondrial respiration defects and retardation of cell growth. Mitochondrial respiration defects are due to reduction of mitochondrial translation
Morpholino knockdown of eif2s3 produces morphants characterized by hypomotility and morphological deficits at 2 dpf. They are shorter with a curved tail. They also display a significant reduction of head size and small eyes
Mice grow and develop normally but exhibit splenomegaly, selective augmentation of IgG3 antibody response to a T-independent type II antigen, and enhanced proliferative responses of B-cells and myeloid cells by anti-IgM and granulocyte colony-stimulating factor stimulation (PubMed:9796923). Mice are prone to development of autoimmune diseases (PubMed:10485649, PubMed:11209085). In a C57BL/6J background, mice spontaneously develop lupus-like autoimmune phenotypes, characterized by proliferative arthritis and glomerulonephritis with predominant IgG3 deposition (PubMed:10485649). In a BALB/c background, mice develop autoimmune dilated cardiomyopathy with severely impaired contraction, and two-third of mice die by congestive heart failure before 30 weeks of age (PubMed:11209085). Mice lacking both Lag3 and Pdcd1/PD-1 die of severe myocarditis before 10 weeks of age in BALB/c mice (PubMed:21300912)
A transposon mutant in wecA/rfe allows HeLa cell invasion but no cell spreading. Shows decreased secretion of IscA, a protein required for cell spreading. The lipopolysaccharide produced is of a size consistent with it containing the core component but no O-antigen side chain
Normal vacuolar development in early stages of trichome development shortly followed by fragmentation of the large central vacuole which finally disappears completely, associated with the formation of abnormally enlarged late endosomes. Abnormal sorting of vacuolar proteins that are instead secreted. Trichomes contain frequently multiple nuclei (PubMed:20663085). Reduced ESCRT-III disassembly (PubMed:21810997). Blocked vacuolar trafficking (PubMed:22258747). Imbalanced Na(+)/K(+) ratio under salt stress (PubMed:23580756)
No phenotype regarding abiotic stresses. Enhanced susceptibility to the incompatible pathogenic bacteria Pseudomonas syringae pv. tomato DC3000
Enhanced freezing tolerance due to impaired phosphorylation and subsequent translocation of 14-3-3 proteins in cold conditions. Altered cold induction of cold-responsive C-repeat-binding factor (CBF) target genes
Deletion reduces growth on glycerol and glucose as sole carbon sources. Deletion mutant does not replicate in differentiated THP-1 macrophages and lacks cytotoxicity (PubMed:24753609). Lack of cpnT does not increase drug resistance in vitro (PubMed:25645841). Deletion mutant does not decrease NAD(+) levels in infected macrophages (PubMed:26237511)
Cells show increased biofilm formation when glucose is present in the medium. In a continuous-flow system with M9C medium supplemented with glucose, the biofilm had a 290-fold greater biomass, a 2700-fold greater thickness and a 31-fold increased surface coverage than the wild-type
Male Vdac3-deficient mice are infertile as a result of reduced sperm mobility due to an abnormal mitochondrial sheat in spermatozoa
Approximately half of the mutant mice die before weaning and show growth retardation during early postnatal stages. Mice display defects in the morphology of the submandibular ducts, abnormalities in the maturation of renal tubules and abnormal composition of saliva and urine (PubMed:17079272). Leads to a decrease in the expression of pluripotency genes (Nanog, Oct4, Sox2 and Esrrb), while resulted in up-regulation of some endoderm (Sox17, Gata4 and Gata6), mesoderm (T and Mixl1) and trophectoderm (Cdx2, Eomes, and Elf5) markers (PubMed:28982712)
Embryos die around birth due to activation of Wnt signaling pathway. Embryos display a lack of lens formation due to Wnt activation. Conditional knockout mice lacking both Rnf43 and Znrf3 in intestine show a marked expansion of the proliferative compartment, resembling the effects of acute deletion of Apc
No apparent stomatal abnormalities. The double mutant cdkb1;1 cdkb1;2 has a reduced number of abnormal stomata consisting in single guard cells (GC) (PubMed:20675570). The quadruple mutant flp-1 myb88 cdkb1;1 cdkb1;2 has a reduced number of large single guard cells blocked at mitosis, with strongly altered shape and size and characterized by enlarged nucleus due to endomitosis and endocycling, as well as extensive chloroplast replication (PubMed:24123248)
Inactivation of this gene produces a 3.4-fold increase in the expression of fldP in cells untreated by H(2)O(2)
Delayed flowering without a significant effect on the photoperiodic or vernalization responses (PubMed:14593172). The late-flowering phenotype in flk-2 is rescued by the disruption of PEP (pep-2, pep-4) (PubMed:19576878)
Glomerular defects during postnatal nephrogenesis including severe glomerular basement membrane (GBM) thickening, effacement of podocyte foot processes, and mesangial expansion and sclerosis (PubMed:32390516). Ectopic expression of laminin LAMA2 in the GBM followed by the accumulation of immature laminin components (PubMed:32390516). Decreased adhesion of podocytes to the GBM (PubMed:32390516)
In oop1, defects in circadian timing with altered phase; early timing of the peak (acrophase) of multiple circadian rhythms such as leaf movement, CO(2) assimilation and light-induced gene expression. Strong photoperception defect in red light leading to long hypocotyls; this phenotype is increased when blue lights are combined to red lights. Increased sensitivity to SO(2). Elongated internodes before the transition to flowering when grown in short day conditions
Mice are viable and fertile, and show normal development of brain, eye, pancreas and adrenal gland
Cells lacking this gene require arginine for growth
RNAi-mediated knockdown results in sterility (PubMed:16710447). RNAi-mediated knockdown at 25 degrees Celsius rescues the larval lethality phenotype of the mep-1 (q660) single mutants (PubMed:16710447)
Mice are viable but males are sterile, producing fewer and morphologically abnormal sperm. Aberrant morphogenesis are first detected in step 9 elongating spermatids, and those elongated spermatids that are formed lack the distinctive foci of heterochromatin at the peri-nuclear envelope. Spermatid nuclei show a fragmented chromocenter
Impaired motility with outer dynein arm defects
Embryo development arrested at one-cell zygotic stage
Causes profound hearing loss, whereas balance and retinal functions appear normal (PubMed:29255404, PubMed:29084757). Impaired stereocilia development in hair cells (PubMed:29255404). Abolished mechanoelectrical transduction (MET) currents in auditory hair cells; while unchanged in vestibular hair cells (PubMed:29255404). Hair bundle morphological abnormalities begin after birth, with regression of the stereocilia and rapid hair-cell death (PubMed:29084757). At P6-P7, the rounded horseshoe-shape bundles at the base of the cochlea lack their typical V-shape (PubMed:29084757). At P7, disorganization of stereocilia in outer hair cells (OHC), with fragmentation in some stereocilia bundles and stereocilia in the shortest row are heterogeneous in length (PubMed:29255404, PubMed:29084757). The inner hair cell (IHC) hair bundles at the cochlear base exhibit an abnormal wavy shape, but, unlike OHCs, all the stereocilia within the same row are of the same length (PubMed:29084757). At P8, the second row of OHC stereocilia are over-grown to the height close to the first row, whereas the third row are largely retracted, resulting in the loss of their staircase architecture (PubMed:29255404). In IHC, the kinocilium is not retracted properly at P8 (PubMed:29255404). On P9, most OHCs have discontinuous horseshoe-like shaped hair bundles, due to the loss of the centrally located stereocilia at the vertex of the bundle (PubMed:29084757). Many IHC bundles at this terminal mature stage still retain their kinocilia, whereas the wild-type IHCs loose this structure at post-hearing onset (beyond P14) stages (PubMed:29084757). On P18, the short row stereocilia have almost entirely disappeared in both IHC and OHC hair bundles, whereas those in the middle row are much shorter than usual, with some missing entirely (PubMed:29084757). At P20, apoptotic hair cells in the cochlea are detected (PubMed:29084757). At P30, disorganization of stereocilia is increased, with complete loss of stereocilia in some animals and other morphological abnormalities, such as stereocilia fusion (PubMed:29255404). On P90 and P120, only sporadic fused stereocilia or residual knoblike protrusions are observed on some of the remaining IHC stereociliary bundles of the mid-basal cochlea (PubMed:29084757). Near-complete loss of IHC and OHC bundles on P120 (PubMed:29084757)
Non-essential, it can be deleted. No effect on processing of furA-katG operon mRNA or of pre-5S rRNA processing. Complete loss of mature 23S rRNA. Minor effects on pre-16S rRNA processing. A double rnj-rne depletion mutant indicates this enzyme plays a role in degradation of previously processed pre-16S rRNAs and a decrease in mature 5S rRNA
Not required for synthesis of the molybdenum cofactor or for the uptake of molybdate (PubMed:8564363)
Slightly reduced in size (PubMed:17310369). In wrky70-1 mutant, not alteration of responses to both JA and SA (PubMed:18713432). Activation of jasmonic acid (JA)-responsive genes in a COI1-dependent manner (PubMed:14742872). Enhanced disease susceptibility to the necrotrophic bacterial pathogen E.carotovora subsp. carotovora SCC3193. Impaired resistance to the salicylic acid (SA)-monitored fungal pathogen E.cichoracearum. Enhanced JA-induced accumulation of anthocyanins (PubMed:16623907). Compromised basal defense and reduced RPP4-dependent late up-regulation (LURP) of resistance genes (e.g. CML10/CaBP22 and LURP1) upon infection by H.parasitica. Reduced INA- (2,6-dichloroisonicotinic acid, SA analog) mediated resistance toward H.parasitica (PubMed:17313163). Promotion of both developmentally and dark-induced leaf senescence associated with abnormal expression levels of several senescence-associated markers genes (PubMed:17310369, PubMed:22268143). The double mutant wrky54 wrky70 exhibits stronger leaf senescence symptoms (PubMed:22268143). Almost no symptoms in response to E.amylovora (PubMed:22316300). Increased susceptibility to P.syringae associated with reduced PR1 induction in double mutants wrky46 wrky70 and wrky46 wrky53, and triple mutant wrky46 wrky70 wrky53. In these mutants, higher induction of PDF1.2 upon jasmonic acid (MeJA) treatment (PubMed:22325892). The double mutant wrky54 wrky70 exhibits an enhanced tolerance to osmotic stress associated with improved water retention and enhanced stomatal closure as well as salicylic acid (SA) accumulation, but a reduced induction of osmotic stress-responsive genes and reduced accumulation of the osmoprotectant proline (PubMed:23815736). Unstressed wrky54 wrky70 double mutant exhibits increased levels of SA, moderate accumulation of hydrogen peroxide H(2)O(2) and up-regulated expression of both SA and JA/ethylene (ET) responsive defense related genes; thus promoting cell wall fortification and consequently enhancing resistance to necrotrophic pathogens (e.g. P.carotovorum and B.cinerea) associated with reduced cell death, but is not sufficient to trigger hypersensitive reaction (HR)-like cell death and resistance to biotrophic/hemibiotrophic pathogens (e.g. P.syringae), characterized by reduced amount of callose (PubMed:28837631). Reduced rhizobacterium B.cereus AR156-induced systemic resistance (ISR) to P.syringae pv. tomato DC3000 associated with reduced (SA)-mediated signal pathway. Plants lacking both WRKY11 and WRKY70 are totally impaired in B.cereus AR156-mediated ISR (PubMed:26433201). The triple mutant wrky46 wrky54 wrky70 has defects in brassinosteroid (BR)-regulated growth and is more tolerant to drought stress (PubMed:28576847)
Decreased protein levels of DRM complex components including lin-9, lin-37, lin-52 and lin-54 (PubMed:17075059). Double knockout with the programmed cell death regulator mcd-1 results slow larval growth (PubMed:17237514). RNAi-mediated knockdown results in embryonic lethality (PubMed:9875852, PubMed:26904949). RNAi-mediated knockdown leads to a reduction of hcp-3 and his-1 protein levels and to a depletion of hcp-3 on centromeres and a reduction of H3K27me3 levels on metaphase chromosomes (PubMed:26904949). RNAi-mediated knockdown results in chromosome segregation defects during mitosis (PubMed:25446273, PubMed:26904949)
Impaired activation of the K(+) channel Kcnn4, resulting in defective T-cell activation
Abnormally elongated mitochondria. This phenotype is reversed by treatment with the PKA inhibitor H89. Protected from ionomycin- but not staurosporin-induced cell death
Abolishes the production of citrinin (Ref.1)
Viable and fertile. Minor defects in sensory cilia function probably due to lack of localization of the tectonic-like module proteins, namely tcnt, B9d1, B9d2 and TMEM216, to the transition zone. Does not affect the recruitment of Cep290 (PubMed:27577095). In sensory cells associated with the notum hair socket, results in structural defects including axonemes with abnormal microtubule connections to the basal body (BB); results in subtle defects in the localization of intraflagellar transport (IFT) proteins and an increase in the ratio of cilium volume to inner membrane volume (PubMed:27577095)
Results in significantly reduced virulence on Nicotiana benthamiana
Essential, it cannot be deleted (PubMed:26621210). LptH depletion affects cell envelope stability, and almost completely abrogates the ability to cause infection in a G.mellonella model of infection and in a mouse model of pulmonary infection (PubMed:26621210)
Acetyl-CoA synthetase activity is not affected in mutant cells, whereas acetoacetyl-CoA synthetase activity is drastically reduced. Moreover, after growth in YM medium, cells lacking this gene accumulate PHB to 60 to 70% of cell dry mass. They display reduced ability to proliferate during the first 30 days of incubation in growth medium lacking nutrient carbon
Brains from mutant mice display defective biosynthesis of O-mannosyl glycans (PubMed:22715095). Mutant mice that lack both Mgat5 and Mgat5b display no visible changes in brain anatomy, but their brains display defective biosynthesis of both O-mannosyl glycans and N-linked glycans (PubMed:22715095)
Cells show increased biofilm formation when glucose is present in the medium. In a continuous-flow system with M9C medium supplemented with glucose, the biofilm had a 240-fold greater biomass, a 2800 fold-greater average thickness and a 16-fold increased surface coverage than the wild-type
Deletion mice are perinatally lethal, with the most obvious gross abnormality being failure of ventral body wall closure, and persistent herniation of the gut. This phenotype likely reflects the defective and weakened nature of extracellular matrix (ECM) in these embryos (PubMed:8951074). Double knockout mice (BMP1 and TLL1) display progressive defects in teeth and bone development (PubMed:28068493, PubMed:24419319)
Some early aborted shrunken and deformed seeds, with abnormal hair-like outgrowths, and infertile ovules, and increased salt permeability in seeds associated with an increase in unsubstituted fatty acids but a decrease in omega-hydroxy fatty acids in seed coats
Embryo lethal when homozygous. Impaired plant growth and development
Knockout mice increase susceptibility to mycobacterial infection after BCG administration compared to wild-type mice. Mutant animals have decreased numbers of DC2 dendritic cells (cDC2), a smaller sized IFNG+ CD4+ and CD8+ T cell fraction, and decreased production of IFNG by splenocytes compared to wild-type animals. They also have profound B cell deficiency due to CD74 NTF accumulation. The protein is required for optimal IFNG production by T cells after mycobacterial infection (PubMed:30127434). Mutant mice confirm depletion of conventional cDC2 cells in lymphatic tissues of null mice. Detailed studies of bone marrow-derived dendritic cells exposed to mycobacteria show enhanced secretion of Il1b, where production of Il10 and Ifnb1 is reduced. There are also some alterations in stimulation of pattern recognition receptors (PubMed:33239420)
Chlorotic (PubMed:12172022, PubMed:8754685, PubMed:18826429, PubMed:21742986). Constitutive expression of strategy I iron deficiency response and accumulation of iron, manganese and zinc in shoots. No reduction in aluminum tolerance (PubMed:12172022, PubMed:18826429). Accumulation of Mn, Cu, Zn and Mg in leaves and accumulation of Fe in roots (PubMed:8754685). Altered pollen development (PubMed:21742986)
Has a temperature-sensitive growth defect in glucose-rich medium, with slower growth and smaller colonies at 37 degrees Celsius but not 30 degrees Celsius; the phenotype is suppressed by overexpression of YHM2
No visible phenotype, but retarded growth during the first 48 hours after germination
Defective in transport of silencing RNAs but not defective in execution of RNAi. Marginal enhancement of cell-autonomous RNAi. Mildly defective in silencing the intestine-expressed gene, act-5
Depletion leads to the loss of DNA-U repair
No visible phenotype. The double mutant sty1-1 and sty2-1 has a reduction in the amount of stylar and stigmatic tissues and decreased proliferation of stylar xylem, as well as shorter siliques and rosette and cauline leaves with a higher degree of serration. Hypersensitive to 1-N-naphthylphtalamic acid (NPA), but restored by exogenous application of auxin
Arrest at the 2-fold embryonic stage which is associated with a defect in embryo elongation and failure of seam cells to elongate to a narrow morphology. No abnormalities in body wall or pharyngeal muscles and in the number of hypodermal cells
Plants are severely dwarfed, partially sterile and display decreased glucosinolate levels and increased IAA concentrations
High rate of embryonic and larval lethality (PubMed:29643117). Some mutants reach adulthood but display severe accumulation of vit-2 in large granule-like structures in intestinal cells (PubMed:29643117)
Impairs the production of GA3, although its precursors, GA4 and GA7, are present (PubMed:12750377)
No growth phenotype of a single sprI or double srpI-cyd deletion mutant in the presence or absence of sulfur
Hypersensitivity to NaCl and ABA in seed germination, and to salicylic acid (SA) in seedling growth
Cells lacking this gene accumulate higher intracellular ROS levels and exhibit decreased tolerance to H(2)O(2) toxicity compared to wild-type siblings. Inactivation of this gene also produces a moderate but significant decrease of 24% in the intracellular survival of P.aeruginosa in phagocytic cells. During in vivo infection of Drosophila melanogaster, flies that have been fed with the wild-type strain of P.aeruginosa die faster than those fed with the fldP deletion mutant
Animals are viable, and despite a delay in growth rate, appear healthy and have a normal lifespan (PubMed:30147641). No defects in the axon formation or guidance of dopaminergic, GABAergic or serotinergic neurons (PubMed:30147641). However, there is an age-dependent decline in the number of viable dopaminergic neurons under normal growth conditions (PubMed:30147641). Up-regulation of ER stress response protein hsp-4 in the intestine, hypodermis and spermatheca (PubMed:30147641). RNAi-mediated knockdown results in up-regulation of hsp-4 in the intestine and pharyngeal epithelium (PubMed:29497057)
Increased sensitivity to abscisic acid stomatal closure (PubMed:26662273). Delayed floral transition (PubMed:25661797)
Severe obesity, hyperphagia, decreased energy expenditure, impaired whole-body fat oxidation, altered hepatic insulin signaling, and impaired glucose and insulin tolerance. Spermatogenic cells and seminiferous tubules show marked degeneration
Gibberellin-deficient dwarf plants
Reduces the tolerance to benzoxazolinones but not to aminophenols
Essential. Depletion results in increased outer membrane permeability
Severe defect in motility on agar plates, forms multiple short filament stubs on the cell surface, decreased expression of flagellin (hag), 30-fold decrease in Hag secretion. All phenotypes are partially suppressed by deletion of csrA, which increases translation of Hag (PubMed:23144244)
No visible phenotype under normal growth conditions, but mutant plants exhibit increased sensitivity to salt and drought stresses
Embryonic lethality at early stage
Cells lacking this gene are unable to grow on chitobiose and chitotriose
Abolishes the production of AK-toxin and impairs the pathogenicity
Cells undergo an apoptotic-like death upon DNA damage characterized by membrane depolarization (PubMed:22412352). Decreased persister cell formation upon antibiotic challenge probably due to increased levels of MazF toxin (PubMed:24375411)
Embryonic development is arrested around 6 dpc
Mice display abnormal head shape with shortened skull length and no change in the skull height. Brain ventricles of these mice are significantly larger and the thickness of the corpus callosum is significantly reduced. They show increased exploratory activity and have impaired learning memory function
Leads to increased sensitivity to different classes of agricultural fungicides: cyprodinil (anilinopyrimidine), ketoconazole, prochloraz and propiconazole (azoles), carbendazim (a benzimidazole), fenpiclonil and fludioxonil (phenylpyrroles), fluazinam (a phenylpyridianine), azoxystrobin, kresoxim-methyl and trifloxystrobin (strobirulins), 4-nitroquinoline oxide (a mutagenic agent), camptothecin (a plant alkaloid) and the phytoalexin resveratrol (a stilbene)
Cells lacking this gene show a reduced acid tolerance response (ATR) during the adaptation phase. However the deletion of YfdW has no effect on survival in oxalate-containing challenge medium
Loss of N6-adenine methylation of 5'-GATC-3' sequences, more sensitive to multiple mutagenic agents
Mice show exhibit hyperaggressivity, decreased body fat and have ocular defects. Female mice lack maternal instincts. In developing brain, there are reduced areas of the ventricular zone and enlarged ventricles. Neuron progenitor cell divide more slowly. There is complete loss of visual acuity, with mice not being able to distinguish the cliff nor light and dark transition. There is a dramatic reduction in retina thickness and enhanced generation of S-cones with more differentiated neurons, fewer proliferation retinal progenitor cells (RPCs) and more cells undergoing apoptosis leading to progressive retinal dystrophy, optic nerve degradation and blindness
No defect in asexual blood stage growth
Lafontaine et al. show that disruption of the gene reduces adherence to cultures of normal human bronchial epithelium (NHBE) but does not impair binding to HEp-2 laryngeal cells and A549 type II pneumocytes (PubMed:24731253). In contrast, Campos et al. show that disruption of the gene decreases adherence to A549 cells and attenuates the ability of the bacteria to invade A549 cells (PubMed:23716608). Mutant does not show a plaque formation defect (PubMed:23716608). Mutation reduces the ability to disseminate and/or survive within the liver in a mouse model of infection (PubMed:23716608). Mutation does not affect the virulence in a mouse model of aerosol infection (PubMed:24731253)
No effect on the starch level in leaves and slight increase of water-soluble polysaccharides. No alteration of the amylase-to-amylopectin ratio. ISA3 is able to fully compensate for the loss of PU1
No visible phenotype under normal growth conditions, but the double mutants camta1 and camta3 are impaired in freezing tolerance (PubMed:19270186). No visible phenotype under normal growth conditions, but the double mutants camt1 and camt3 exhibit semi-dwarf phenotypes (PubMed:19270186, PubMed:23581962). No visible phenotype under normal growth conditions, but the double mutants camt2 and camt3 exhibit dwarf phenotypes (PubMed:23581962). Reduced growth, chlorosis, spontaneous lesions and constitutive expression of defense-related genes when grown under 22 degrees Celsius (PubMed:18298954, PubMed:19122675, PubMed:28407487). Enhanced sensitivity to insect herbivores (PubMed:23072934, PubMed:22371088)
Deficient mice exhibit normal retinal morphology. Electroretinography shows slower recovery of rod from intense illumination. GUCY2F and GUCY2E double knockout mice does not show any photoresponse at 4 weeks of age, rods and cones degenerate at about 2 month of age and the intracellular transport of some phototransduction proteins is impaired
Disruption of the gene reduces the ability of M.tuberculosis to bind to host cells. Disruption does not reduce virulence in a mouse model of infection (PubMed:17030567). Invasion of the infant human brain microvascular endothelial-cell monolayer is significantly decreased in transposon mutant (PubMed:16586367)
Lack of CO(2) avoidance behavior (PubMed:21954162, PubMed:22479504). Down-regulation of genes required for BAG neuron differentiation and function (PubMed:21954162, PubMed:22479504). Reduction in exploratory behavior and an increase of animals in the quiescent state (PubMed:28193866). Unable to sense downsteps of O(2) (PubMed:28193866). Increased intestinal fat storage (PubMed:28193866)
No visible phenotype due to the redundancy with TRZ3. Trz3 and trz4 double mutants are lethal
Mice are fertile but display abnormal neurite growth
Slight enhancement in abscisic acid-inhibited germination. Redundant with LECRKA4.1 and LECRKA4.3
Uncoordinated movement and reduced body wall muscle currents. These phenotypes are probably related
Mutant accumulates DAT in the cytoplasm and at the cell surface. Does not produce PAT
No visible phenotype (PubMed:12024023). Mice develop normally and display no obvious immune defect (PubMed:12024023). T-cells retain susceptibility to apoptotic stimuli (PubMed:12024023)
Disruption of the gene increases the amounts of L-cysteine and L-cystine produced after 72 hours of cultivation
Morpholino knockdown of the protein causes profound defects in angiogenesis. Although sprouting of the intersomitic vessels occurs, the endothelial cells fail to extend fully across the intersomic region and there is no apparent formation of the dorsal longitudinal anastomosing vessel. No other obvious defect is observed in the developing morphant
Viable. No effect on axon regeneration 24 hours following injury of D-type motor neurons. Double knockout with svh-4 results in a more enhanced axon regeneration defect of D-type motor neurons as compared to the svh-4 single mutant
Enhanced root growth leading to longer primary roots due increased differentiated cells size (PubMed:30715439, PubMed:35639812). Increased accumulation of reactive oxygen species (ROS) such as superoxide anion O(2) and hydrogen peroxide H(2)O(2) (PubMed:35639812). Reduced susceptibility to necrogenic bacterial pathogens (e.g. Erwinia amylovora) and necrotrophic fungal pathogens (e.g. Alternaria brassicicola) infection and pathogenic induced cell death leading to the reduction of necrotic symptoms in leaves (PubMed:30715439). These symptoms are associated with disturbed expression of various genes related to stress responses (PubMed:30715439). Decreased resistance against the generalist herbivore Spodoptera littoralis, but not toward the specialist herbivore Pieris brassicae, and associated with reduced accumulation of jasmonic acid (JA), jasmonate-isoleucine and indolic glucosinolates due to a lower expression of several genes (e.g. CYP79B2, CYP79B3, CYP83B1 and GSTF9) (PubMed:35401621)
No visible phenotype; due to the partial redundancy with AS2. Gain-of-function mutants iso-3D, iso-4D and dsl1-D (T-DNA and transposon tagging) show flowers and siliques bended downwards
Defective pyridoxal kinase results in both salt hypersensitive and root hairless phenotypes (PubMed:11910005, PubMed:12068103). Hypersensitivity to Na(+), K(+) and Li(+) ions (PubMed:11910005). Increased accumulation of Na(+) ions but reduced K(+) retaining under NaCl stress (PubMed:11910005)
Short hairpin-mediated RNA knockdown of the protein in PC12 cells leads to increased resistance to C.botulinum neurotoxin type A (BoNT/A, botA) as assayed by reduced SNAP25 cleavage; uptake and degradation are restored by expression of SV2B or SV2C (PubMed:16543415)
Embryos arrest after 5.5 dpc and resorb by 8.5 dpc mainly due to increased cell death
Impairs the transcription of kojA and kojT, and blocks the production of kojic acid
Grows about half as well as wild-type photoautotrophically, assembles about 50% PSII (PubMed:8420932). Electron flow is deregulated; forward flow from Q(A) to plastoquinone is slower while reduction of the oxygen evolving complex is faster (PubMed:11546758)
Abolishes the production of terreic acid but not other types of secondary metabolites (PubMed:25265334)
Results in the inability to grow at alcaline pH and altered resistance to calcium, osmotic stress, cold temperature, antifungal drugs and growth on non-fermentable carbon sources. Leads also to unability to fully assemble the V-ATPase at the vacuolar membrane and impairs its proton transport and ATPase activities. Finally, leads to autophagy defect and avirulence in a Caenorhabditis elegans infection model
Flies exhibit shortened copulatory duration (due to incomplete fusion of the left and right halves of the apodeme that holds the penis during copulation) and reduced adult-stage life span
RNAi-mediated knockdown in nephrocytes alters their cell morphology and function (PubMed:30910934). Reduces total number of nephrocytes starting from larval stage and results in shortened lifespan (PubMed:30910934)
Deletion of the gene increases swimming motility
Viable but male sterile (PubMed:28607459). Results in enhances preference and sensitivity to ethanol (PubMed:28607459). Fails to develop tolerance to repeated ethanol exposures (PubMed:28607459). Increases axon length and axon branching (PubMed:31718774). RNAi-mediated knockdown increases axon length and axon branching (PubMed:31718774). RNAi-mediated knockdown in a subset of lamina neurons results in axonal swellings and disorganized axonal microtubules (PubMed:31718774)
Disruption mutant shows normal growth characteristics after being shifted from anaerobic to aerobic conditions (PubMed:8253666). Mutant shows slower growth on citrate and acetate, and is unable to grow on the citric acid cycle intermediates succinate, fumarate and malate (PubMed:8253666, PubMed:9620964)
RNAi-mediated knockdown on a ced-3 mutant background results in ectopic egl-1 expression in posterior ventral nerve cord neurons (PubMed:21596899). RNAi-mediated knockdown on a simultaneous lin-39; ced-3 mutant background results in ectopic egl-1 expression in midbody and posterior ventral nerve cord neurons (PubMed:21596899)
No visible phenotype, but reduced root growth. Kcs2 and kcs20 double mutants have a glossy green appearance due to a significant reduction of the amount of epicuticular wax crystals on the stems and siliques, a significant reduction of C22 and C24 VLCFA derivatives in aliphatic suberin and a roots growth retardation and abnormal lamellation of the suberin layer in the endodermis
Ray defect
Causes an elevation in dolichyl diphosphate levels
Mice are viable and fertile. They however fail to thrive and only 40% survive by 14 weeks of age. Mortality is associated with extensive consolidation of the lungs resulting from infiltration by myeloid cells. Increased numbers of granulocyte-macrophage progenitors are observed in both the bone marrow and spleen. Absence of Inpp5d leads to steel factor-induced degranulation of mast cells. They also display increased numbers of osteoclast precursors leading to a severe osteoporosis
Impaired growth on methylthioribose (MTR) as sole sulfur source
Individuals have short, non-motile flagellae
Impairs the production of oosporein (PubMed:26305932)
Defective in pollen tube guidance. Prevents gamete interaction and fertilization, resulting in male sterility
Infertile. Inability to ovulate, uterine hyperplasia and inflammation, severely limited mammary gland development and an impairment in the induction of a sexual behavioral response (PubMed:8603049). In isoform A-defective mice less oocytes are produced, only a subset of implantation-specific uterine epithelial target genes is regulated, and an increased progesterone-dependent proliferative activity of isoform B in the uterine epithelium is observed. Isoform B-defective mice showed unaffected ovulation (PubMed:10976068)
RNAi-mediated knockdown causes embryonic lethality in 30-50 percent of embryos (PubMed:15716356). RNAi-mediated knockdown prevents ubxn-2 nuclear localization in the 2-cell embryo (PubMed:23649807). RNAi-mediated knockdown in an unc-45 (m94) mutant background, does not restore motility (PubMed:17369820). Simultaneous RNAi-mediated knockdown of cdc-48.1 causes embryonic lethality (PubMed:15716356, PubMed:16647269, PubMed:18097415, PubMed:18728180, PubMed:26842564). Defects in oocyte meiosis I progression (PubMed:17512499). Defects in embryo S phase DNA replication causing delays in cell cycle progression (PubMed:17512499, PubMed:18097415, PubMed:18728180, PubMed:21981920). At the end of mitosis, impairs chromatin decondensation and nuclear envelope re-assembly (PubMed:18728180, PubMed:18097415). In addition, abnormal accumulation of air-2 on mitotic chromatin and impaired air-2 activation (PubMed:18097415). Does not affect ER transition into sheet-like structures at the onset of embryonic mitosis (PubMed:15716356). Simultaneous RNAi-mediated knockdown of cdc-48.2 in young adults decreases lifespan, induces the unfolded protein response, increases overall levels of polyubiquitinated proteins, and impairs the degradation of misfolded ER proteins (PubMed:16647269, PubMed:17825049, PubMed:17369820, PubMed:21317884, PubMed:22768338). Causes defects in germline development (PubMed:20977550)
Leads to the loss of kojic acid production
Cells lacking this gene are more sensitive to mitomycin C, show an increased ability of competence and are not able to metabolize extracellular DNA
Morpholino knockdown of the protein at the four cell stage results in loss of planar cell polarity protein asymmetry, defects in cilia polarity and affects microtubule asymmetry
Viable (PubMed:11161570). In ovaries, results in defective oogenesis leading to sterility (PubMed:11161570). Results in morphological defects in both eye and wing (PubMed:11161570). Simultaneous knockout of cutlet and RfC4 or RfC38 exacerbates the eye defect of the single cutlet knockout (PubMed:11161570)
Viable and fertile (PubMed:21377457, PubMed:27910949). Salivary glands develop, but the submandibular glands are consistently smaller and overall levels of cell proliferation lower (PubMed:21377457). Expression of cation-chloride cotransporter Nkcc1 is dramatically reduced in salivary ducts (PubMed:21377457). No obvious morphological changes in the olfactory epithelium (OE) (PubMed:27910949)
Deletion mutant impairs the production of inflammatory cytokines and type I interferons in macrophages after infection with both DNA and RNA viruses
Confers rapamycin-sensitivity
Loss-of-function mutants show irregular, uncoordinated cell divisions throughout embryogenesis, affecting the shape and number of cotyledons and the hypophysis, and is seedling lethal at 5 days after germination due to root growth arrest. Quiescent center and cell cycle markers show no signals in apm1-1 knockdown mutants, and the ground tissue specifiers SHORTROOT and SCARECROW are misexpressed or mislocalized. apm1 mutants have multiple, fused cotyledons and hypocotyls with enlarged epidermal cells with cell adhesion defects. apm1 alleles show defects in gravitropism and auxin transport
Early flowering phenotype under short-day conditions
RNAi-mediated knockdown prevents mitophagy (PubMed:25896323). Accumulation of germ cell specific P-granules in somatic cells as indicated by increased numbers of pgl-1 and pgl-3 positive granules in embryos and L1 stage larva (PubMed:19167332). RNAi-mediated knockdown results in increased numbers of sepa-1- and lgg-2-expressing protein aggregates in embryos (PubMed:26687600). RNAi-mediated knockdown reduces autophagic degradation of membrane pore-forming toxin Cry5B (PubMed:27875098). Impaired survival when exposed to pathogenic bacteria S.typhimurium (PubMed:19667176). Reduces the number of vacuolated (dying) touch receptor neurons in a mec-4 u231, deg-1 u506 or deg-3 u662 mutants (PubMed:17327275). The extended lifespan of animals exposed to hormetic heat shock early in life is significantly reduced by RNAi-mediated knockdown
Impairs the production of the gray-brown conidiophore pigment and leads to 'ivory' (colorless) conidiophores (PubMed:2126551)
Results in abnormal production of conidiophores and conidia, including longer conidia with fewer septa, conidia sensitivity to acute stresses such as oxidative stress and heat stress, and vigorous generation of single-celled conidia through autophagy-dependent microcycle conidiation (PubMed:24186953). Reduces the survival rate of aged conidia (PubMed:24186953)
Simultaneous disruption of erfK, ybiS, ycfS and ynhG leads to loss of covalent anchoring of the major outer membrane lipoprotein (Lpp) to the peptidoglycan. Complementation with ycfS restores some of this anchoring
Cells lacking this gene fail to use alanine as a carbon or nitrogen source and become sensitive to the presence of the amino acid in glucose-ammonium minimal medium. They exhibit a glutamate auxotrophy when ammonium is the sole source of nitrogen
Female and male mice are infertile due to severe gametogenesis impairment. In female mutant embryos, the initial mitotic development of germ cells is normal, but they fail to undergo promeiotic DNA replication and meiotic chromosome condensation. In male mutants, the premeiotic DNA replication is conserved and germ cells are able to partly condense chromosomes and initiate meiotic recombination. However, they fail to regularily continue over the leptotene stage of prophase I
Defects in initiation and/or maintenance of rachis-branches, lateral spikelets and terminal spikelets
Mice show severe growth abnormalities (PubMed:17218525). Severe reduction in the number of Rorc and Vgamma2-positive mature thymocytes in fetal and adult mice caused by the loss of Blk expression in Vgamma2-positive immature thymocytes (PubMed:23562159). This results in a severe reduction of Il17a-producing Vgamma2-positive gamma-delta T-cells in the spleen, lymph nodes and dermis (PubMed:17218525, PubMed:23562159). In addition, the number of Vgamma4-positive thymocytes in the fetal thymus is transiently reduced, with levels returning to normal in neonatal and adult mice (PubMed:23562159). Proliferation of CD3, CD4, and CD8-negative (triple negative) thymocytes and gamma-delta thymocytes is increased (PubMed:17218525). Double knockout of Sox13 and Tcf7/Tcf1 shows a reduced number of DN1d cells (PubMed:30413363). No defects in oligodendrocyte precursor cells specification and in their differentiation into myelinating oligodendrocytes (PubMed:26525805). However, in Sox13 and Sox6 double knockout mice, causes a slight increase in the number of prematurely differentiated oligodendrocytes in the spinal tube compared to Sox6 knockout mice (PubMed:26525805). No defects in the integumentary system morphology and in hair development (PubMed:30638933)
Mice have a reduced ability to locate an odorous source and lower body weights. The olfactory sensory neurons display defects in response termination and adaptation but have unchanged sensitivity (PubMed:22057188). Mice show severe enamel defects (PubMed:23375655)
Quickly loses viability when treated with nocodazole, which causes disassembly of mitotic spindles. Exhibits increased frequency of chromosome loss and greatly reduced virulence in mice
A null mutation does not lead to any detectable defect in guanosine uptake. However, in the nupG-nupN double mutant, guanosine uptake is reduced to an almost undetectable level
Strains are still able to make extracellular appendages that include alkaline phosphatase L (phoA2, protein DING)
Deletion mutant cannot grow on D-lysine as a sole carbon source and shows attenuated growth on L-lysine (PubMed:31064836). Mutant accumulates D-2-hydroxyglutarate (PubMed:31064836)
Homozygous knockout MDK mice are viable and reproduce normally. Mice have no apparent abnormalities except that postnatal development of the hippocampus is delayed. However 4 weeks after birth, mice have a deficit in their working memory and have an increased anxiety (PubMed:10096022). Knockout MDK mice exhibit low to moderate levels of auditory deficits and generally respond at around 50 dB. PTN and MDK double knockoutmice have a deficit of auditory response (PubMed:16619002). PTN and MDK double knockout mice are born in only one third the number expected by Mendelian segregation and 4 weeks after birth weigh about half as much as wild-type mice. Most of the female are infertile. Both male and female one-month-old mice show a defect in spontaneous locomotive activity of 50-60% of that of wild-type mice. Although the difference in activity decrease with age, the activity of 3-month-old male double knockout mice is still about 80% of that of the wild-type mice. The diestrus and proestrus periods are long and the estrus period is short. Furthermore, vaginal abnormality is found in about half of the double deficient mice (PubMed:17121547). Homozygous knockout MDK mice display not significant difference from wild-type until the age of 6 month. Mice at 12 and 18 months of age show an increased trabecular bone volume, accompanied by cortical porosity (PubMed:20200993)
Cells show slow growth, fragmented mitochondria and have a 50-fold reduced level of s-MGM1. These defects can be complemented by human PRELI or bypassed by growth on a nonfermentable carbon source
Impairs growth at low phosphate conditions when pho-4 is also absent
Cells lacking this gene grow more slowly than wild-type on tHyp-B as sole carbon source, whereas growth is normal on cHyp-B. When both hpbD and hypF are disrupted, P.denitrificans is unable to utilize tHyp-B or tHyp as sole carbon source
No visible phenotype under normal growth conditions, but mutant plants have reduced basal level of jasmonic acid and exhibit increased susceptibility to the fungal pathogen Botrytis cinerea
Reduced molecular weights of the S-layer glycoprotein and archaellins due to a change in the N-glycan composition. The tribranched hexasaccharide glycan of S-layer glycoprotein is a pentasaccharide that lacks a terminal hexose residue
Growth continues, but export of its substrates is blocked (PubMed:16352602, PubMed:16522795). Expression of chaperones DnaK, GroEL/ES, ClpB, and HslU increases (PubMed:16352602)
Reduced levels of all aliphatic glucosinolates and increased levels of indole-derived glucosinolates in leaves
Mutant mice grow normally and appear healthy but males are sterile due to massive germ cell apoptotic death after postnatal day 14 with meiocytes ceasing meiotic progression before the early meitoic phase. There is also increased transcription of LINE-1 and IAP retrotransposons accompanied by demethylation of their promoter regions
Disruption mutant is slightly more copper sensitive on complex medium than wild-type strain under aerobic conditions (PubMed:11222619, PubMed:11399769). Deletion of the gene does not affect copper sensitivity under anaerobic growth conditions (PubMed:11399769). Deletion of the gene leads to elevated biosynthesis of enterobactin under conditions of iron scarcity when copper is present (PubMed:15317788)
Affected flavonoid levels in the plant. Altered root growth, seed development and germination, and pollen development and release (PubMed:19995827). Enhanced growth and early flowering in comparison to the wild type (PubMed:20505354)
Cells missing this gene do not produce urease; addition of Ni(2+) to cell cultures does not compensate this loss of function. Normal amounts of apourease are produced by the cells. Has no effect on hydrogenase activity
Disruption causes increased KCND2 potassium-channel expression in endocardial myocardium leading to abolition of the cardiac repolarization gradient, a selective increase of the major cardiac repolarization current, I(to,f), and increased susceptibility to arrhythmias
Reduced capacity to complete DNA demethylation initiated by ROS1
Cells are smaller. Deletion suppresses activating mutations in khpB (also called eloR/jag) (PubMed:28710862). No change in subcellular location of KhpB (PubMed:33558392)
Cells lacking this gene are unable to grow with mannose as the sole carbon source. Deletion of manP results in constitutive expression from both the manP and manR promoters, indicating that the phosphotransferase system (PTS) component EII-Man has a negative effect on regulation of the mannose operon and manR
Increased length of hypocotyls under dark-grown conditions
SELENBP1 knockout results in accumulation of dimethylsulfoxide in the plasma. Methanethiol oxidase activity measured in tissues from knockout mice is significantly lower that in normal tissues
Deletion mutant requires hemin for growth
Morpholino-mediated knock-down causes severe trunk shortening, disruption of somatic muscle formation and impairs the expression of the mesodermal marker t/xBRA, similar to the effects of inhibition of fgf signaling
Cells lacking this gene reveal a filamentous phenotype
Embryos have a ventrally curved tail, ciliary defects and cystic kidneys
Mice appear normal until 7.5 dpc, but become grossly abnormal and dead at mid-gestation. Show severe defects in yolk sac blood and major vessels formation. Show impair callosal axons to cross the midline during cortical development. Show disruption of all three midline commissure fibers crossing, the corpus callosum, the anterior commissure and the dorsal hippocampal commissure during cortical develpoment. Conditional knockout mice in which rapgef2 is lacking within the dorsal telencephalon result in malformation of the cortical brain structures: developed an ectopic cortical mass (ECM) extending throughout the rostro-caudal axis of the cerebral hemisphere. Mice show also an enlargement of the lateral ventricles and the agenesis of interhemispheric connections: the corpus callosum, the dorsal hippocampus commissure and the anterior commissure (PubMed:19453629)
Leads to decreased, but does not abolish, production of herqueinone
Defects in the formation of the blade-sheath boundary in leaves (e.g. absent or incorrectly positioned ligule and auricles) and delayed flowering
Male mice are sterile due to defects in the development of the spermatid flagellum. They have reduced body fat content and fail to attack each other when caged together with other males
No visible phenotype. Mice are viable and fertile (PubMed:20844742, PubMed:21049064, PubMed:23675506). They display a subtle neurological clasping phenotype and mild motor deficits (PubMed:20844742). Motor defects were not confirmed by a subsequent analysis (PubMed:23675506). Deletion in embryonic fibroblasts results in the appearance of a significant number of new H2A.Z/H2AZ1 around the transcription start site as well as at other chromatin regions (PubMed:24463511)
Causes embryonic lethality before E8.5 (PubMed:31588022). Heart- and skeletal-muscle-specific knockout mice show elevated concentrations of the RNA dinucleotide pApA in the mitochondria purified from the heart (PubMed:31588022)
Cells lacking this gene are unable to grow with quinate and shikimate as substrate but do not affect growth with glucose
RNAi-mediated knockdown causes paralysis and arrested elongation at the two-fold stage of embryonic development
Knockout mice are generally healthy, fertile, and behaviorally normal (PubMed:20805325). They have altered leg clasp reflex (PubMed:11986323). They show a lack of N-glycan species with an additional bisecting N-acetylglucosamine (PubMed:11986323). Knockout mice crossed with Alzheimer disease model mice have significantly lower levels of the beta-C-terminal fragment of APP (betaCTF) and soluble APP cleaved at the beta-site (sAPPbeta) in their brains than Alzheimer disease model mice. They have markedly decreased the number of amyloid-beta plaques and ameliorated cognitive function (PubMed:20805325)
Resistance to phage lambda (PubMed:4201774). No growth on dextrins (PubMed:2832377)
RNAi-mediated knock-down is mostly embryonic lethal. Embryogenesis proceeds more slowly, with embryos displaying defects in the positioning and shape of epidermal cells. Randomly orientated microtubules are present in epidermal cells during the epidermal elongation process. F-actin accumulation is visible at the leading edge during ventral closure and circumferential actin bundles are present in epidermal cells. Decreased expression of pafo-1, increased cytoplasmic expression of leo-1 and increased nuclear expression of rtfo-1
No synthesis of msDNA
Reduces the activities of beta-1,3-glucan synthase and chitin synthase III, while increasing chitin synthase I and II activities. Shows altered cell wall composition as well as susceptibility towards cell wall inhibitors such as zymolyase, calcofluor white, and nikkomycin Z
More susceptible to oxidative stress
Mice are lean, resistant to high fat diet-induced obesity but without the induction of insulin resistance and have a higher metabolic rate than wild-type mice
Slf2 depletion in zebrafish embryos using CRISPR/Cas9-mediated genome editing or morpholino gene knockdown results in a significant reduction in head size and aberrant craniofacial patterning in the pharyngeal skeleton
Mfa1-deficient cells show increased autoaggregation. Double mutants lacking both FimA and Mfa1 lack major and minor fimbriae; they fail to adhere to host cells
Knockout animals present mild to severe dorso-ventral patterning defects during early embryonic development and display severe cardiovascular and skeletal defects
Cells lack 2,5-dihydroxypyridine 5,6-dioxygenase activity
Lethal due to defect in male gametogenesis
Deletion mutant shows no growth phenotype under standard conditions or nitrogen deficiency
Knockout of Sart3 is embryonic lethal
Impairs melanin biosynthesis (PubMed:21115702). Abolishes the light-stimulated formation of aerial mycelia (PubMed:21115702). Results in abnormal hyphal swelling, increases sensitivity to shaking force and significantly reduces hydrophobicity (PubMed:21115702)
Loss of isoform A causes embryonic lethality
Mice are apparently healthy under specific pathogen-free conditions. However, thymus of mice display much fewer thymocytes and CD4/CD8 double-positive (DP) thymocytes are more susceptible to apoptosis (PubMed:9892623). Increased adipocyte size and adipose tissue mass (PubMed:20519120). Higher level of free cholesterol in Th17 cells (PubMed:26607793)
Knockdown of the gene by morpholino antisense oligomer reduces neural crest cell migration and causes severe craniofacial defects
Lethal when homozygous. Tocopherol-deficient plants are unable to grow photoautotrophically and infertile. Vte5 and vte6 double mutants can grow photoautotrophically and display a stay-green phenotype with strongly delayed senescence and an extended lifetime
Delayed loss of transgene silencing (post-transcriptional gene silencing (PTGS)), with full silencing in the cotyledons and in the hypocotyl, contrasting with a loss of silencing in true leaves. Impaired maintenance of tobacco rattle virus (TRV)-mediated silencing. Reduced methylation of cytosine residues in targets loci but enrichment of histone-H3 'Lys-4' methylation (H3K4me3) at the same sites
Plants display reduced phytic acid content in seeds
Viable, but intestinal cells contain lipid droplets that are reduced in size and that contained a reduced amount of triglycerides as compared to wild-type
Male mutant mice perform better than wild type in exercise stress test after endurance training. Females do not differ significantly during these tests. Even in the absence of endurance exercise, mutant mice exhibit muscle fiber adaptation, i.e. more type 2a fibers and lower levels of type 1b fibers. Endothelium-dependent vasorelaxation of the aorta is enhanced and responses to beta-adrenergic constriction are reduced. Expression of PPP1R12A is 30-40-fold higher in mutant mice than in wild-type littermates and exhibits a steady decline as the animals become sexually mature (at protein level). During pregnancy, by day 13, PPP1R12A expression is dramatically increased to 6-14 times over the levels observed in pregnant wild-type littermates (at protein level). PPP1R12B expression levels are unaffected. In vascular smooth muscle, force development in response to phenylephrine is reduced and both the rate and extent of relaxation in response to acetylcholine are promoted. Myosin dephosphorylation is promoted in mutant animals
Loss of arginine-dependent acid resistance. No coupled transport of arginine and agmatine (PubMed:12867448, PubMed:14594828). No effect on levels of AdiA (PubMed:12867448)
Abolishes the production of endocrocin (PubMed:22492455, PubMed:23592999). Leads to attenuated virulence in a toll-deficient Drosophila invasive aspergillosis model (PubMed:23592999)
RNAi-mediated knockdown results in high embryonic lethality (PubMed:10209096). Causes a failure in cytokinesis resulting in a lack of cellularization and in polyploidy (PubMed:10209096, PubMed:10983970). Defective extrusion of the polar body during oogenesis (PubMed:10209096, PubMed:10983970). Defects in chromosome condensation, compromised alignment and segregation of paired homologs and defects in spindle midzone formation during meiosis and mitosis (PubMed:10983970). Disruption of air-2 and hcp-1 localization to chromosomes (PubMed:10983970). Decreased phosphorylation of histone H3 'Ser-10' and decreased acetylation of histone H3 'Lys-14' and 'Lys-9' (PubMed:10983970, PubMed:12682297). Surviving animals exhibit a shorter and stouter body morphology, slow uncoordinated movements, are egg-laying defective, have abnormal germ line growth and exhibit protruding vulvas (PubMed:12682297). Decrease in the transcription of several genes including collagen genes (PubMed:12682297, PubMed:17116281)
Increased tolerance to paraquat-triggered oxidative stress associated with PRMT13/PRMT4B, APX1 and GPX1 accumulation due to increased histone H3 methylation (H3R17me2a)
Mutant is defective in syringomycin production but produces wild-type levels of syringopeptin. Mutation significantly reduces the virulence of strain B301D in immature sweet cherry fruits
ENU-induced null mutation in mice produce several neurological abnormalities, including deficits in vestibular function, fear learning and circadian behavior
Decreased levels of 1,2-disinapoyl-glucose due to a partial redundancy with SCPL8 and SCPL13
No visible phenotype and no effect on molybdate content in shoots when grown in soil, but increased levels in leaves and decreased levels in seeds
RNAi-mediated knockdown reduces survival (PubMed:30642431). RNAi-mediated knockdown disrupts tail tip morphogenesis resulting in retention of the pointed larval tail tip in adult males (also known as the Lep phenotype) (PubMed:21408209). RNAi-mediated knockdown causes chromosome misalignment and anaphase bridges during the first embryonic mitotic division (PubMed:25475837). RNAi-mediated knockdown results in impaired locomotion in 23% of animals (PubMed:24285704). RNAi-mediated knockdown results in ectopic expression of egl-17 in multiple vulva precursor cells and a moderate increase in phosphorylation of mpk-1 (PubMed:24349540). RNAi-mediated knockdown results in impaired activation of the mitochondrial unfolded protein response following the inhibition of respiration induced by antimycin A (PubMed:30642431). RNAi-mediated knockdown results in ectopic tbx-2 expression in seam cells and in the syncytial hypodermis (PubMed:25873636). RNAi-mediated knockdown in a bet-1 mutant background results in decreased myo-3 levels in muscles and increased transcription levels of egl-15, sur-1 and let-60 (PubMed:24285704)
Cells lacking this gene exhibit a lack of m5U modification in tmRNA
A msbB1/msbB2 double mutant is impaired in its capacity to cause TNF-alpha production by human monocytes and to cause rupture and inflammatory destruction of the epithelial barrier in the rabbit ligated intestinal loop model of shigellosis. Mutants have no defect in their ability to enter into host epithelial cells
Isoform 2 knockout mice are viable and fertile, but male mice display a mild abnormality of cardiac function reflected by an increased expression of atrial natriuretic peptide and beta myosin heavy chain. Muscles do not show any histological or ultrastructural alterations. Replacement of isoform 1 by isoform 2 results in embryonic lethality before 16.5 dpc with a plethora of developmental defects including open neural tube, which is abnormally waved both rostrally and caudally. Some embryos lack part of the hindbrain and in most embryos the first branchial arch is shortened, which in some of the embryos leaves the tongue exposed. Abnormally strong fibronectin staining is seen in the mesenchyme under the open neural tube. Extravasation of red blood cells is evident in various tissues and they are also found in the pericardial cavity. Choroid plexus is virtually absent correlating with the presence of an abnormally smooth head and small brain cavities. At later developmental stages, a striking feature is the lack of a lower jaw and a dysmorphic lower face. These defects are in part caused by the abnormal migration of neuroepithelial cells
Mutant mice are healthy with no signs of spontaneous colitis or inflammation, however are more susceptible to bacteria-induced colitis in comparison to the wild type
Increased susceptibility to UV light
Reduced tissue growth (PubMed:22493059, PubMed:25999153). Adults display an overall reduction in size with a 25% reduction in body weight, and have smaller wings and eyes (PubMed:22493059, PubMed:25999153). Reduced phosphorylation of Akt1 which is a direct target of the TORC2 complex but no effect on the phosphorylation of SK6 which is a major target of the TORC1 complex (PubMed:22493059)
Normal magnetic response, fewer, larger magnetosomes; cells accumulate 20% more iron (PubMed:24816605). Deletion of the 4 gene operon (mms6, mmsF, mms36 and mms48) gives an intermediate magnetic response with fewer, smaller magnetosomes in irregular pseudo-chains (PubMed:22043287, PubMed:24816605)
Expansion of the ciliary body and up-regulation of Wnt2b and Fzd4 expression in the developing peripheral eye (PubMed:21856951). Delayed hair cycle with down-regulation of Tgfb1 throughout the cycle and low levels of phosphorylated Smad2/3 (PubMed:22995554). Failure of the axons of the anterior and posterior parts of the anterior commissure (AC) to cross the midline, leading to an almost total absence of the AC in adults (PubMed:21055390, PubMed:23206892). Reduced size of hippocampus and dentate gyrus (DG), increased number of neural stem cells (NSCs) in the DG at P15, altered ratio of proliferating and quiescent NSCs with an increase in the number of proliferating NSCs in the DG at P15, and abnormal terminal differentiation of NSCs (PubMed:31983064). Decreased weight and short stature due to decreased longitudinal bone growth coupled with low bone mass (PubMed:30271858). Shortened and morphologically abnormal growth plates and abnormal expression of chondrogenic marker genes (PubMed:30271858). Formation of abnormally short and dislocated stereocilia in the inner hair cells of the ear and hearing loss (PubMed:32127020). Reduced cochlear expression of Sox2 and translocation of Sox2 from the nucleus to the cytoplasm in spiral ganglion cells (SGCs) at P0 (PubMed:32127020). Redistribution of Bmp4 with diminished expression in the outer sulcus and sparse distribution around the cochlear epithelium (PubMed:32127020). Reduced number of SGCs at the cochlear basal turn (PubMed:32127020). Excess wound inflammation with up-regulation of Tgfb1, Stat3 and Il6 during wound healing (PubMed:25159578). Reduced body size, increased levels of circulating high-density lipoprotein cholesterol and increased cholesterol efflux (PubMed:31391339). Some studues showed increased sympathetic innervation and norepinephrine release in adipose tissue, leading to enhanced adrenergic signaling and thermogenesis, attenuation of brown fat whitening and protection from diet-induced obesity (PubMed:31535079, PubMed:30595550). Another study found no effect on brown fat thermogenic capacity, protection from diet-induced obesity or glucose homeostasis (PubMed:31767170). Double knockout of Tsku and Draxi results in a higher frequency of AC defects than single knockout of either Tsku or Draxi (PubMed:23206892)
Strains are lipoate auxotrophs. The requirement for lipoic acid can be bypassed by addition of both acetate and branched-chain fatty acid (BCFA) precursors
Exhibits severe defects in the growth of vegetative organs and in seed setting capacity: displays a reduction in the rosette size and number of leaves, a reduction of siliques size with high proportion of aborted ovules, a short root length with reduction of the meristem size, of the number of cortical cells and of the size of the elongation zone with root tips showing a distorted cellular pattern (PubMed:24201137). Also exhibits a higher sensitivity to abscissic acid (ABA) (PubMed:24201137). The double mutant sik1 mob1a is arrested at the seedling stage (PubMed:26685188)
Forespores lack a well-defined cortex, and the coat is present as swirls in the mother cell compartment of the sporangia rather than having been deposited around the forespore protoplasts. According to PubMed:18691972, unable to sporulate
Mice lacking Coq7 start to die after E8. Heterozygous mutant reveal that the reduction of Coq7 levels in these animals profoundly alters their mitochondrial function despite the fact that ubiquinone production is unaffected. The mitochondria of young mutants heterozygous are dysfunctional, exhibiting reduced energy metabolism and a substantial increase in oxidative stress
RNAi-mediated knockdown causes variable hypersensitivity to low, chronic doses of the B.thuringiensis pore-forming toxin Cry5B but not to heavy metal Cd(2+) exposure
Death during the second instar stage
Cells are erythromycin and tylosin resistant. Ery2 mutants (formerly called ery-M2) are cold-sensitive for growth at 15 degrees Celsius. Resistance and cold sensitivity are recessive to the wild-type allele. At least one mutant (ery2-4 formerly ery-M2d) has fewer chloroplast ribosomes than the wild-type
No visible phenotype under normal growth conditions, but freshly harvested seeds of mutant plants show reduced seed dormancy
Mice develop basal ganglia calcification and display significantly elevated phosphate in cerebral spinal fluid, calcified optic nerve tissue, moderate to severe hydrocephalus, poor skeletal development, low body weight and significantly decreased postweaning survival rates (PubMed:26822507). Juvenile mice exhibit abnormal endochondral and intramembranous ossification, decreased mineral accrual, and short stature (PubMed:30721528). Adults exhibit only small reductions in bone mass and mineralization but a profound impairment of bone strength (PubMed:30721528)
Mutants show reduced growth and altered differentiation only within restricted sectors of the proximal-distal (PD) axis in the leg and wing
Viable and fertile, with no obvious morphological defects. Strongly susceptible to bacterial infection, displaying reduced survival after infection with E.coli and E.faecalis. The initial phagocytic uptake of bacteria by the hemocytes is not affected, however bacterial clearance by the phagosomes is severely reduced. Phagosomes fail to fuse with late endosomes/lysosomes, preventing the phagosomes from acquiring their characteristics and maturing into fully acidified phagolysosomes. No effect on endocytic trafficking and starvation-induced autophagy. The Notch and EGF receptor pathways are also unaffected
Deletion of the gene results in the production of LPS containing only the bis-phosphorylated lipid A species
Reduced primary root growth, increased lateral root formation, and altered root system architecture, due to altered early phloem development
Phenotypes are different depending on reports. According to a first report, mice are viable and fertile and do not show changes in tissue morphology and behavior: they exhibit the same susceptibility to LPS-induced endotoxic shock as wild-type animals and do not show the defects in LPS-induced biosynthesis of inflammatory cytokines known to occur with Mapkapk2-deficient animals (PubMed:14560018). According to another report, both homozygous and heterozygous mutant mice are highly susceptible to skin carcinogenesis induced by DMBA (PubMed:17254968). According to a third report, mutant show embryonic lethality around 11 dpc in a C57BL/6 background (PubMed:15538386)
Nonmotile flagella, with paralyzed half-length flagella and disrupted outer dynein arms assembly
Queuosine is observed in queG or queH single mutants, but queG-queH double mutants accumulate epoxyqueuosine and lack queuosine
Reduced plant growth. Increase in the size of peroxisomes and decrease in the number of peroxisomes per cell. Elongated mitochondria
Dilute mice carry a hypomorphic allele of Myo5a, resulting in melanosome clustering in the center of the cell. This causes decreased light absorption and an apparent dilution of coat color. The hair color of mice that are deficient for both Myo5a and Mreg appears nearly normal, but the abnormal clustering of the melanosomes persists (PubMed:15550542, PubMed:3410303, PubMed:22753477). Likewise, mice deficient for Rab27a or Mreg have a gray coat, while mice deficient for Mreg and Rab27a, or Mreg and Mlph, have a hair coat that appears nearly black (PubMed:3410303). In spite of melanosome clustering, shedding of melanosome-containing vesicles and their uptake by adjacent keratinocytes is restored in mice that are deficient for both Myo5a and Mreg (PubMed:22753477). RNAi-mediated knockdown of Mreg in cultured Rab27a-deficient melanocytes restores normal melanosome location at the cell periphery. In cultured wild-type melanocytes melanosomes are dispersed at the cell periphery, and RNAi-mediated knockdown of Mreg has no effect on melanosome location (PubMed:22275436). In mice lacking Mreg, the number of phagosomes in retinal pigment epithelial cells displays a normal, rapid increase after the onset of light, but then decreases much more slowly than in wild-type (PubMed:19240024). Eyecups from 9 and 12 month old mutant mice display increased levels of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) (PubMed:19240024)
No visible phenotype. Enhanced susceptibility to P.syringae
Simultaneous knockdown of puf-6 and puf-7 results in ectopic primordial germ cells (PGCs) outside the somatic gonads, premature PGC proliferation in L1 larvae and germ cell death. Does not affect germline development in adult hermaphrodites. Disruption with puf-5 and puf-7 results in abnormally small oocytes, disorganization of oocyte nuclei and cells, inefficient yolk uptake by oocytes, embryonic arrest with impaired eggshell formation and cytokinesis defects, impaired repression of glp-1 in late oogenesis, and mislocalization of rme-2 to the cytoplasm instead of the plasma membrane
Male transgenic mice (expressing a KLC3 deletion mutant) display significantly reduced reproductive efficiency siring small sized litters (PubMed:22561200). Show significantly reduced sperm count, defective mitochondrial sheath structure in a number of spermatids and produce spermatozoa that exhibit abnormal motility parameters (PubMed:22561200)
Mice display a sensitization to DNA damage and replication block, and die in mid-gestation
Adult mice lacking BMP3 have increased bone mass (PubMed:11138004). Targeted loss of BMP3 results also in increased differentiation of early osteoblasts precursors into mature osteoblasts and further supports a role of BMP3 in regulating adult bone mass (PubMed:22074949)
No growth defect (PubMed:15513918). However, slight decrease in proliferation and slight increase in doubling time during the asexual blood stage in an amino acid-limited medium (PubMed:15513918). Triple knockout of PMI, PMII and PMIII causes a slight decrease in proliferation during the asexual blood stage in an amino acid-limited medium (PubMed:17581121). Quadruple knockout of PMI, PMII, PMIII and PMIV causes a decrease in proliferation, an impaired proliferation in an amino acid-limited medium, a reduced formation of haemozoin and an abnormal accumulation of endosomal vesicles inside the digestive vacuole (PubMed:17581121)
Mutants show a progressive hearing loss with an increase in auditory brainstem response (ABR) thresholds with age, mostly affecting low frequencies, with a sensorineural (not conductive) pathology. At one month old, there is extensive loss of outer hair cell (OHC) hair bundles
RNAi-mediated knockdown in a cps-6 mutant background reduces the number of DNA breaks in embryonic cells undergoing apoptosis
Homozygous ABCC1 knockout mice are healthy and fertile up to at least 12 months of age. They are hypersensitive to anticancer drugs resulting in an increased loss of body weight and mortality and have a decreased inflammatory response
Morpholino knockdown of the protein results in marked vascular anomalies of the dorsal cranial vessels including both dorsal longitudinal and mesencephalic veins
Retarded growth, reduced size of leaves and length of petioles
RNAi-mediated knockdown causes no visible phenotype
RNAi-mediated knockdown is lethal. Most mutants fail to develop past the L3 larval stage, and the few pupal escapers do not develop past the late pupal stages
In koLhcb3, accumulation of LHCB1 and LHCB2 apoproteins to adjust photosystem II (PSII) (PubMed:19880802, PubMed:26562806). However, altered macrostructural arrangement of the LHCII antenna and increased rate of PSII transition from state 1 to state 2. Increased phosphorylation level of LHCII (PubMed:19880802). Reduced responsiveness of stomatal movement to abscisic acid (ABA), therefore resulting in a decrease in tolerance to drought stress (PubMed:22143917). Deceleration of the fast phase of excitation dynamics in grana cores (PubMed:26562806)
Mutant mice show increased sensitivity to pain caused by pressure, but also by heat
Altered overall H3K36me3 modifications (PubMed:30774641). No visible phenotype under normal growth conditions, but mutant plants have a short-period circadian phenotype (PubMed:21115819, PubMed:21139085, PubMed:30859592, PubMed:21358285, PubMed:30774641). Defective temperature compensation leading to shorter circadian period at increasing temperatures with altered expression levels of clock genes at 27 degrees Celsius (PubMed:30774641). Reduced callus formation from somatic cells associated with low Lateral organ Boundaries-Domain (LBD) transcript levels (e.g. LBD16, LBD17, LBD18 and LBD29) associated with an impaired reduction of H3K9me3 deposition and altered H3K36me3 accumulation at their loci during leaf-to-callus transition (PubMed:29923261). The double mutant jmj30-2 atxr2-1 is strongly impaired in callus formation (PubMed:29923261). Reduced abscisic acid (ABA)-mediated growth arrest during the post-germination stage, with stronger effect in plants lacking both JMJ30 and JMJ32 (PubMed:30859592). The double mutant missing JMJ30 and JMJ32 exhibits an early-flowering phenotype at elevated temperatures (e.g. 29 degrees Celsius), associated with increased H3K27me3 levels at the FLC locus and decreased FLC expression (PubMed:25267112). The double mutant jmj30 jmj32 has longer primary roots (PubMed:30983495). In jmj30-2 jmj32-1 double mutants, reduced brassinosteroids (BR) mediated repression of ABA-inducible genes (e.g. ABI5, ABF2, ABF3 and ABF4) (PubMed:33324437)
Loss of export of cell wall protein GspB; glycosylated GspB accumulates in the cytoplasm
Low levels of indolic glucosinolates
Small plants with reduced chlorophyll content. Susceptiblility to the oomycete pathogen P.brassicae despite recognition and rapid induction of hypersensitive response (HR) but associated with a reduced oxidative burst (e.g. H(2)O(2)), a runaway cell-death response, and specific deficiencies in the expression of established markers of immune and stress hormone signaling (e.g. PR1, PDF1.2, AIG1, EDS1 and PAD4). Normal susceptibility to virulent and avirulent isolates of the oomycete H.arabidopsis, to virulent and avirulent isolates of the bacterial pathogen P.syringae, and to the fungal pathogen B.cinerea
Mutants have no growth defect in aerobic conditions. However, inactivation leads to a stress-dependent elongated phenotype (in anaerobiosis or at temperatures over 37 degrees Celsius)
Deletion of this gene results in an accumulation of G3P and G3P-containing lipid polar heads
Inactivation of this gene results in a complete loss of the quinone reductase activity of the Na(+)-NQR complex, but does not affect the NADH dehydrogenase activity. Cytoplasmic fumarate reductase activity displayed by KPK_2907, which contains a covalently bound FMN, remains unchanged in mutant cells
Cells show oxidative stress-related import deficiencies and growth defect on oleic acid (PubMed:21665945). Peroxisomes are clustered (PubMed:21665945). Cells display defects in peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) (PubMed:21665945)
No visible phenotype at birth. B-cell development in the bone marrow proceeds normally, but mice have reduced numbers of peripheral B-cells, with a greater proportion of immature cells and an increased turnover rate. Dendritic cells also have a more immature phenotype. Mice develop severe asthma upon exposure to airborne antigen. Mice display elevated levels of serum IgM. Aging mice display strongly increased levels of myeloid cells, severe extramedullary hematoipoiesis and tend to develop monocyte/macrophage tumors. After about 16 weeks, mice begin to develop splenomegaly and glomerulonephritis, and display autoimmune antibodies. Their B-cells are hypersensitive to stimulation of the B-cell receptor, and display enhanced activation of the MAP kinase signaling pathway. Mice do not display an allergic response upon IgE receptor engagement
Abolishes the production of pyrichalasin H, and leads to the accumulation of sereval compounds that appear to arise from a redox shunt pathway from 1,5-dihydropyrrolone
Conditional reduced growth in fluctuating white light intensities conditions, with near complete blockage in photosystem II (PSII) supercomplex formation, and concomitant increase of unassembled psbC (CP43), thus leading to reduced PSII efficiency and biomass accumulation. Increased sensitivity to high light conditions, associated with the loss of PSII supercomplexes and accelerated D1 degradation
Deletion leads to a complete loss of PldA, PldB and VgrG4b secretion
tRNA(Phe) from mutant shows accumulation of 4-demethylwyosine (ImG-14) and absence of wybutosine
Male mice display strongly reduced fertility (PubMed:30929735). Spermatozoa show significantly reduced motility and morphologic abnormalities are observed, such as primarily tailless spermatozoa with an abnormal head-tail junction, as well as short and coiled flagella (PubMed:30929735). Structural abnormalities of the connecting piece are observed during spermiogenesis and multiple structural defects of the flagella, with a greatly increased percentage of flagella exhibiting abnormal principal pieces and end pieces (PubMed:30929735). Axonemal structural abnormalities, such as abnormal bulges, extra peripheral microtubule doublets, lack of central-pair microtubules, absent dynein arms, and abnormal arrangement of the 9 peripheral microtubule doubles, are also frequently observed (PubMed:30929735)
Not essential; a double ligC1-ligC2 mutant grows normally, no effect on NHEJ. In a triple deletion with ligD NHEJ on blunt-ended plasmid is 90-fold impaired. In quadruple ligB-ligC1-ligC2-ligD deletions NHEJ on blunt and 5'-overhangs is 0.22 and 0.12% of wild-type respectively, only 4-fold decrease in 3'-overhang NHEJ
The double mutant nac050 nac052 exhibits early flowering and increased H3K4 methylation on specific genes, thus leading to their derepression (PubMed:25578968). Impaired pollen development (PubMed:19237690). Impaired RNA-mediated gene silencing (PubMed:26617990)
When both copies are inactivated, the mutants are unable to grow with TSA, but show normal growth with TCA. Growth with PSB is slightly faster than growth of the wild-type strain
Increased organization of cartilage collagen fibers featuring more smaller diameter fibers that are closely packed (PubMed:29323130). Dysregulation of small leucine-rich repeat proteoglycan superfamily members in cartilage, including an increase in Lum and Epyc, and a decrease in Fmod and Prelp (PubMed:29323130). In a surgical osteoarthritis model, a reduction in cartilage degradation and inflammatory markers, decreased loss of cartilage integrity, and reduced synovial membrane thickness (PubMed:29323130). Decrease in vitreous body vaso-obliteration upon hypoxia, and an increase in preretinal neovascularization upon restoration of normoxia (PubMed:22159013)
No visible phenotype under normal growth conditions. Increased levels of flavonols (PubMed:24319076). Decreased levels of anthocyanins (PubMed:24319076, PubMed:25053018)
Mice exhibit significantly increased bronchoalveolar lavage (BAL) inflammation consisted predominantly of neutrophils; have decreased goblet cell hyperplasia as well as decreased mucus production; have decreased airway hypersensitivity after cholinergic provocation with methacholine
RNAi-mediated knockdown results in embryonic or larval lethality in the majority of animals (PubMed:10772806). RNAi-mediated knockdown results in embryos that do not survive due to failed epidermally mediated process of embryo elongation (PubMed:10772806). Of the animals that hatch, larvae display a squat body statue, referred to as a dumpy phenotype, have uncoordinated movements and posterior patterning defects (PubMed:10772806). Larvae also have anterior patterning defects such as kinked or notched noses (PubMed:10772806). Animals that progress to adulthood are sterile and vulvaless (PubMed:10772806). RNAi-mediated knockdown disrupts tail tip morphogenesis resulting in retention of the pointed larval tail tip in 33% of adult males (also known as the Lep phenotype) (PubMed:10772806, PubMed:21408209). Knockdown causes enhanced embryonic lethality on a nob-1 mutant background
Delayed growth, small siliques with defects in fertility, and alterations of seed and fruit development (PubMed:18820081). Reduced respiratory rates, pyruvate levels and Krebs cycle intermediates (PubMed:18820081). Increased reactive oxygen species levels (PubMed:18820081). The double mutant gapc1 gapc2 has an impaired ability to enhance heat tolerance of seedlings and to promote the expression of heat-inducible genes (PubMed:32651385)
Cells lacking this gene in the mucoid strain FRD1 are phenotypically non-mucoid, i.e. non-alginate producing, and secrete dialyzable oligouronic acids of various lengths that are mainly mannuronic acid dimers resulting from alginate lyase (AlgL) degradation of polymannuronic acid. Disruption of algX in the non-mucoid strain PAO1 does not visibly alter the phenotype of the parent
Mutant shows increased threonine peptide sensitivity (PubMed:11514515). Mutant still exports L-threonine, but at a reduced rate (PubMed:11514515)
Homozygous knockout embryos die after implantation, prior to embryonic day 8.5
Not essential for photoautotrophic growth, however PSII is less stable, a considerable amount is missing the oxygen evolving complex, and it is missing PsbX
Impaired vernalization response with incomplete repression of FLC during and after cold exposure, due to a reduction in vernalization-induced histone H3 deacetylation and methylation (e.g. H3K4me3 and H3K27me3). Delayed flowering in short days (SD=8 hours light/16 hours dark) conditions but not in long days (LD=16 hours light/8 hours dark); enhanced FLM levels dur to an enhance level of chromatin acetylation
Male mice lacking Atp2b4 are infertile with severe reduction of sperm motility
No visible phenoptype (PubMed:9687499). Mice lacking Gnaq and Gna11 are embryonic lethal due to cardiomyocyte hypoplasia (PubMed:9687499). Mice lacking Gnaq and with one single intact copy of Gna11, as well as mice lacking Gna11 and with one single intact copy of Gnaq die shortly after birth; lethality is caused by heart malformations (PubMed:9687499). Newborns display craniofacial defects (PubMed:9687499)
Deletion mutant forms smaller biofilms, and produces more pyocyanine and less phenazine-1-carboxylic acid (PCA) than the wild-type. Affects expression of many genes and impacts fitness in fluctuating conditions
Cells lacking this gene are auxotrophic for thymidine (dT) and hypoxanthine (PubMed:19478918). tRNAs of the mutants lack archaeosine (G(+)) (PubMed:18931107, PubMed:19478918). A slight growth defect is seen in mutants grown at 45 degrees Celsius in Hv-YPC (yeast-peptone-casamino acids) medium supplemented with dT (PubMed:18931107). Absence of pantothenate from the growth medium of the mutant cells results in a slow-growing phenotype (PubMed:19478918)
RNAi-mediated knockdown causes a reduction in the size of cortical granules during the first meiotic division
Lowers the level of gapB and pckA transcription threefold under both glycolytic and gluconeogenic conditions
No visible phenotype, due the redundancy with IPT2. Often chlorotic
RNAi-mediated knockdown results in viable animals, but a small, but significant number of animals have nuclear migration defects in hyp7 hypodermal precursor cells (PubMed:20005871). RNAi-mediated knockdown results in an abnormal distribution of GABAergic synaptic vesicles at synaptic termini of the ventral nerve cord (PubMed:16996038). RNAi-mediated knockdown in combination with exposure to pentylenetetrazole, a GABA antagonist that induces seizures, results in impaired locomotion, stiffened appearance and an increased convulsion incidence as compared to wild-type animals (PubMed:16996038)
RNAi-mediated knockdown at the L1 or L4 larval stages causes a defect in egg-laying without affecting uterine and vulva muscle function
Mice display abnormalities in social behavior and sensorimotor gating
Mutant develops distinct foliar lesions under ozone exposure
Embryonic lethality around E7.5 stage probably caused by the absence of hexokinase activity
Resistant to fluconazole. Increased resistance to caspofungin. Suppresses CDC13-1 temperature sensitivity
Resistant to infection by the microsporidian pathogen N.parisii and displays a fitness advantage phenotype, whereby there is increased fitness following infection by N.parisii (PubMed:34994689). Fewer invading N.parisii spores following infection at the L1 larval stage of development due to impaired orientation, location and angle of N.parisii spore proteins relative to the host's intestinal apical membrane (PubMed:34994689). Does not affect the ability of N.parisii to invade intestinal cells or N.parisii spore consumption by intestinal cells of L1 stage larvae (PubMed:34994689). Animals are not resistant to infection by N.parisii at the L3 larval stage of development (PubMed:34994689). Reduced survival following infection by the bacteria P.aeruginosa at the L1 and L4 larval stages due to increased accumulation of the bacteria within the intestinal lumen (PubMed:34994689). Reduced survival and increased numbers of N.parisii spore proteins following co-infection with N.parisii and P.aeruginosa (PubMed:34994689)
Delayed transport of newly synthesized protein from the Golgi to the plasma membrane, impaired glycosylation of proteins along the exocytic pathway, and structural disorganization of the Golgi apparatus. Defects are associated with decreased acidification of the cisternae of the Golgi and trans-Golgi network by 0.4-0.5 pH units with no effect on lysosomal pH and no effect on endocytosis or recycling
Blocks the secretions of pyranterreones
Suppression of the defense responses induced by chitin oligosaccharides
When associated with NAD-ME1 disruption, loss of NAD-dependent malic enzyme activity associated with an altered steady-state levels of sugars and amino acids at the end of the light period
Specific defects in fin and otic vesicle development
Sensitive to amino acid starvation
RNAi-mediated knockdown causes a disruption in the dorsal intercalation and ventral migration of epidermal cells, preventing enclosure and elongation of the embryo. Epidermal cells tend to round up and appear to be defective in adhesion (PubMed:15958510). In addition, causes partial nuclear re-localization of hmp-2 in the embryonic epidermis and the production of supernumerary gut nuclei probably resulting from epithelial cell hyperproliferation (PubMed:20805471)
Viable and fertile (PubMed:19793753). Males are able to transfer sperm but can only induce weak PMR behaviors in females (PubMed:12897240, PubMed:19793753)
RNAi-mediated knockdown causes embryonic lethality, but about 10% of animals survive to early adulthood (PubMed:33370778). Significantly enlarged AMsh glial cells (PubMed:33370778)
At 42 degrees Celsius, mutation causes formation of spherical cells and mecillinam resistance
Cells lacking this gene lose the ability to grow on gamma-HCH; growth is restored when a plasmid containing the linC gene is introduced
Mutants show retardation of growth and development with mid-gestation embryonic lethality, delayed puberty, reproductive dysfunctions and obesity. The rare mutant survivors through adulthood exhibit abnormal digit separation and syndactyly, as well as shortened limbs and hypoplastic skeletons with reduced or absent bone mineralization. Their head show a diminutive and curved nasal midline and a small lower jaw with microcephaly, closely spaced eyes or single/absent eyes. They have hypothalamic gonadotropin-releasing hormone (GnRH) deficiency and pituitary dysgenesis. In some cases, they exhibit exencephaly. At 12.5 dpc, they also have heart defects with a double-outlet right ventricle, ventricular septal defects and sometimes thorcic skeletal defect and lung airway abnormalities (PubMed:29263200). Mutant cells show defective ciliogenesis with a significant reduction in the length of the ciliary axoneme and the frequency of ciliated cells (PubMed:29263200)
Liver-specific knockout male mice have decreased body mass and are protected from age-associated hepatic steatosis. Male mice show a reduction in the liver triglyceride and free fatty acid levels. No effect on liver cholesterol level, liver weight, and liver function is observed
Reduced levels of arabinogalactan proteins. Root hair defects. Reduced seed sets. Increased sensitivity to salt stress
Early embryonic lethality (PubMed:19737919). Compound heterozygotes display germ cell defects and a rudimentary or missing fifth digit of the forelimb (PubMed:19737919). Conditional knockout in lymphocyte T cells show a weak reduction in tissue-resident memory T (Trm) cell population maintenance in the skin, gut, liver and kidney but not of splenic T cells (PubMed:27102484). Double knockouts for PRDM1/BLIMP1 and ZNF683 result in a strong inhibition of Trm cell population maintenance but not of circulating memory cells (PubMed:27102484). Display an enhancement of natural killer T (NKT) cells migration preferentially to the white pulp of the spleen in response to chemotactic stimuli (PubMed:27102484)
No visible growth defects, but increased aluminum resistance
Ectopic expression of pre-synaptic reporter snb-1-GFP in ASI sensory neurons. Along the dorsal nerve cord of DD motoneurons, pre-synaptic puncta appear diffuse or smaller and synapse localization of sad-1 is disrupted. Germline hyperplasia and loss of aak-2 phosphorylation during dauer development (PubMed:20110331). During neuroblast division, daughter cell size asymmetry in the Q.p division is defective (PubMed:23267054). Animals are slightly stiff but with active locomotion (PubMed:20023164). In par-4 (it33) mutants, causes embryonic lethality (PubMed:20023164). In ced-3 (n3692) mutants, impaired cell shedding during embryogenesis which results in the generation of an ectopic excretory cell (PubMed:22801495). In addition, these double mutants produce additional AVM or PVM mechanosensory neurons (PubMed:23267054)
Lethality. Mutant clones exhibit bristle loss as well as very small bristles on the thorax. Mutations affect cell and organ size, bromodeoxyuridine incorporation and autophagy
Cells lacking this gene are chlorate-resistant, fail to synthesize MGD and accumulate elevated quantities of MPT
Decreased degradation of DNA with free ends that is unable to undergo homologous recombination, which can fortuitously lead to more efficient viral infection (PubMed:123277, PubMed:4562392). Cells are deficient in DNA recombination repair and have increased sensitivity to UV light. The cultures have many inviable cells (PubMed:6389498). Cells can be transformed with retron Ec48-containing plasmids (PubMed:33157039)
Simultaneous knockout of ADE17 leads to adenine and histidine auxotrophy
Abolishes the production of fumiquinazoline A and C and shows a 19-fold accumulation in fumiquinazoline F production (PubMed:24612080)
Does not grow in ambient air, has a wild-type growth rate in 5% CO(2), called a high-CO(2) requiring phenotype, hcr. Fewer carboxysomes are present, RuBisCO is found to be soluble rather than in the carboxysome. Required for growth in ambient air (PubMed:31406332)
Deletion of the gene causes a diminution of T3SS needles, a decrease in secretion of T3SS proteins and affects the regulatory gene operon. It reduces T3SS activity toward eukaryotic cells. Mutant shows reduced virulence in a mouse pneumonia model
Mutant is unable to utilize extracellular arginine as an energy source under oxygen-limiting or anaerobic conditions
Deficient mice show reduced embryonic viability, neonatal growth retardation, excessive weight gain after weaning, and increased adiposity with altered metabolism, including increased fasting insulin and elevated cholesterol, in adulthood. Mutant mice also show abnormalities in the circadian pattern of feeding behavior. Deficient mice show features similar to those of Prader-Willi syndrome in humans
Homozygous Aqp11 knockout mice are born normally at the expected Mendelian frequency and are normal. However, after 15 days mice begin dying, and only 15% survive until day 60. Mice exhibit severe renal dysfunction with a significant increase of blood urea nitrogen (BUN) level. The kidneys are large and pale with rough texture occupying the whole abdominal cavity. The kidneys are anemic and polycystic following swelling and vacuolization of the proximal tubule (PubMed:18701606, PubMed:16107722). Mice with conditional knockout of Aqp11 in liver appear to have a normal life span of more than 1 year, are fertile (both females and males), show a normal growth rate, and do not show any behavioral abnormalities. Unchallenged mice have normal longevity, their livers appear normal, and reveal only a minor defect in lipid handling. In contrast, rough endoplasmic reticulum (RER)-derived vacuoles develop rapidly in the periportal hepatocytes of liver-specific following 24 h fasting and refeeding (PubMed:23275615). Mice with temporal conditional knockout of Aqp11 between post natal days (P) P2 and P12 exhibit apparently normal kidneys at birth and within the first two postnatal weeks of life exhibit tubular dilations. When conditional knockout of Aqp11 is induced until P8, proximal tubule (PT) cell vacuolization and apparent tubular cysts are formed, whereas no deficient renal development are observed if conditional knockout of Aqp11 starts at P12 (PubMed:27582095)
Abolishes the production of cichorine and accumulates nidulol
Deficient mice shown no alteration of dendritic cell phenotype and numbers and the response of dendritic cells to innate stimuli is not altered. No alterations are found in leukocyte numbers or frequencies in spleen, lymph node or thymus, and mice appear normal and do not develop any obvious symptoms of autoimmune disease
Knockout Bok mice have a normal development
APOE knockout mice display severe hypercholesterolemia associated with impaired clearance of dietary fats (PubMed:1423598). Excess cholesterol is more particularly associated with the atherogenic very low and intermediate density lipoproteins in the plasma (PubMed:1423598). These mice are therefore prone to atherosclerosis (PubMed:1423598). Mice lacking both Cx3cr1 and Apoe show decreased atherogenesis (PubMed:12569158). Animals with a double knockout of APOE and CD36, fed a Western diet for 12 weeks, exhibit much lower levels of CXCL1, CXCL2 and CCL5 mRNA expression in the descending aorta and a corresponding decrease in atherosclerotic lesion formation, compared to APOE single knockout mice (PubMed:23812099). Animals with a double knockout of APOE and TLR4 or TLR6 also have less aortic plaque formation than single knockout mice. All 3 double knockout show lower serum concentrations of IL1A, ILB and IL18 (PubMed:20037584). The melanosomes of APOE knockout mice lack the ellipsoidal shape indicative of deficient PMEL amyloidogenesis
Seedling lethal without exogenous carbon sources (PubMed:16326926, PubMed:20603003). Decrease of total chlorophyll content as well as a decrease in the chlorophyll a:b ratio. Absence of grana thylakoids. Altered expression profiles of plastid genes (PubMed:16326926). Impaired in phytochrome (both PHYA and PHYB) responses, especially to red and far-red light, such as hypocotyl growth inhibition, proteolysis of phytochrome A and phytochrome-interacting transcription factors (PubMed:20603003)
RNAi-mediated knockdown results in enlarged deps-1-containing clusters
Dwarf, wide leaf and small grain phenotypes
Mutants lack the ac(4)C modification, but do not show any growth defects (PubMed:18668122). Knockout mutant shows decreased 2-hydroxyisobutyrylation levels (PubMed:34903851)
Decreases cell wall chitin level (PubMed:28346351). Resistance to Calcofluor White (cell wall stressor) (PubMed:28346351). Decreases conjugation frequency (PubMed:9234668)
Enhanced susceptibility to R.radiobacter
Mutant mice die shortly after birth. Embryos at 18.5 dpc. show abnormal neuromuscular junction morphology characterized by increased number of motor neuron and presynaptic nerve termini and muscle fiber necrosis
RNAi-mediated knockdown rescues the defective mitophagy caused by mutations in parkin and improves mitochondrial integrity in park- or PINK1-deficient flies. Moreover, knockdown in dopaminergic neurons protects flies against paraquat herbicide toxicity in vivo, ameliorating defects in dopamine levels, motor function and organismal survival
Deficient mice exhibit embryonic lethality. These mice cannot transfer iron from the extraembryonic visceral endoderm into the embryo proper, leading to a defect in embryonic growth and consequent death (PubMed:16054062). Erythroid-specific deletion reduces serum iron but increased tissue iron contents (PubMed:30213870)
Elongated and downwardly curled rosette leaves. In old plants, rosette and cauline leaves and flowers change to red color. Increased levels of ARF3 and ARF4 transcripts, targeted by TAS1 and TAS3, respectively
No obvious developmental defects but reduced biomass and reduced leaves number. Increased sensitivity to salt stress
Embryos with CRISPR-induced cirop null present heterotaxy phenotype (heart looping and intestine defects). No other ciliopathy-related phenotypes such as body curvature, kidney cysts or hydrocephalus are observed in cirop mutant embryos
Cells lacking SpeB display a strongly decreased virulence (PubMed:9169486, PubMed:11069651). Cells lacking SpeB are unable to infect skin tissues in a humanized mouse model for impetigo (PubMed:11069651)
FBXO7-deletion mice expired without exception at the beginning of the fourth postnatal week, independently of gender. Before the fourth week, mice displayed significantly lower body and brain weights
Morpholino knockdown of the protein impairs specification of the left-right axis during embryonic development and randomization of heart and gut looping, plus misexpression of left-side specific genes (PubMed:16216239, PubMed:16943304, PubMed:17360770, PubMed:26432887, PubMed:25660539). Morpholino knockdown of the protein causes body curvature, tail curling, hydrocephalus and kidney cysts (PubMed:15269167, PubMed:16216239, PubMed:16943304, PubMed:16551655, PubMed:17360770, PubMed:23376035, PubMed:26432887). Morpholino knockdown has no effect on number, length or motility of pronephric cilia, but the fluid flow through the pronephric ducts seems to be impaired due to physical obstruction of the ducts (PubMed:16943304). Likewise, morpholino knockdown of the protein has no effect on the motility of cilia in Kupffer's vesicle (PubMed:25660539). Morpholino knockdown of the protein leads to an increase of the volume of Kupffer's vesicle, without any change in the proliferation of the cells that line the vesicle (PubMed:26432887). Morpholino knockdown of the protein leads to impaired heart function, characterized by arrhytmia and frequently associated with pericardial and abdominal edema and atrioventricular block (PubMed:23376035)
Does not significantly affect miconazole susceptibility
No visible phenotype under normal growth conditions (permissive temperature of 21 degrees Celsius), but mutant plants have a temperature-sensitive phenotype (when transferred to 31 degrees Celsius) showing radially swollen roots and reduction in cellulose production
Enhanced susceptibility to Alternaria brassicicola, Plectosphaerella cucumerina and Fusarium oxysporum associated with a disturbed expression of genes involved in cell wall metabolism (e.g. lower xylose content in cell walls). Reduced induction of the plant defensin gene PDF1.2, and decreased sensitivity to methyl jasmonate (MeJA). Hypersensitive to auxin-mediated induction of lateral roots, within the central cylinder, attenuating acropetally transported auxin signaling. Enhanced sensitivity to glucose and mannitol during seed germination. Abnormal roots architecture
No visible phenotype. Light early-flowering and premature leaf senescence phenotype. Increased total cysteine content and increased resistance to pathogens
Mutants are viable with a 98.4% hatch rate which is close to the wild-type hatch rate. No apparent defects in the central nervous system
No visible phenotype under normal growth conditions. However, in growth conditions described in PubMed:17347412 mutant plants have decreased sensitivity to abscisic acid (ABA)
Male mice are infertile due to disrupted sperm flagellum assembly
Impaired exocrine cell differentiation and growth. Loss or significant reduction of exocrine cells are due to lineage-specific cell cycle arrest but not apoptosis. The endocrine cell mass appear normal. Cell cycle arrest is mediated by up-regulation of cell cycle inhibitor genes cdkn1a, cdkn1b, and cyclin gccng1
Mice are not viable and embryos die by 15 dpc during the transition from primitive to definitive hematopoiesis. They exhibit delayed maturation of primitive erythrocytes and subsequently die with failure to produce enucleated erythrocytes. Their fetal liver contains erythroid and megakaryocytic precursor arrested in their development
RNAi-mediated knockdown abolishes expression of tyrosine monooxygenase cat-2 in neurons in the male-specific genital sensilla (simple sense organs) known as rays
Leads to a decrease in aflatoxin enzyme levels, down-regulation of aflatoxin accumulation, and impaired conidiospore development (PubMed:28926946)
Leads to a clear reduction in benzylpenicillin production
Final morphogenesis aberrant, rapid development (body formation accelerated), premature spore maturation and elevated levels of cAMP. PkaR and rdeA double mutants are rapidly developing and sporogenous. acaA and rdeA double mutant forms only a very small number of spores and no cAMP synthesis
Reduced growth in rich medium, unable to grow in minimal medium. Reduced activity of Fe-S-dependent aconitase (citB). Reactive oxygen species are drastically reduced. No bacillibactin (BB), an endogenous siderophore, produced. 20% higher intracellular iron concentrations
Completely abolishes the production of novofumigatonin, but accumulates fumigatonoid B and asnovolin A
Frequent spontaneous seizures that originate in the hippocampus, with most animals dying in the first few months of life
Altered growth traits, early flowering, weak stems, small siliques and reduced fertility. Mutant plants have a severely impaired resistance to Botrytis and A.brassicicola (PubMed:16339855). Reduced plant size (PubMed:20413097, PubMed:27679580). Enhanced resistance to Plasmodiophora brassicae, a soil-borne obligate pathogen that causes clubroot disease (PubMed:27679580). Hypersensitivity to the plant hormone brassinolide (PubMed:23818580). Reduced calcium levels after elicitation with peptides representing bacteria-derived microbe- and damage-associated molecular patterns (MAMPs, flg22 and elf18, and the endogenous DAMP AtPep1) (PubMed:25522736). Compromised SCOOP10- and SCOOP12-induced root growth inhibition and reactive oxygen species (ROS) production in the double mutant bik1 pbl1 (PubMed:34535661)
Leads to a small accumulation of pyranonigrin J and the formation of a desmethylated product pyranonigrin K
Leads to much slower cell growth
Simultaneous knockdown of LGR4, LGR5 and LGR6 results in developmental phenotypes, such as cleft palate and ankyloglossia, but not in tetra-amelia with lung agenesis
Defects in programmed DNA elimination, and inefficient production of sexual progeny due to reduction in the level and length of piRNAs
Slight reduction in plant height (PubMed:28385728). In cell wall, altered content and composition of lignins derived from typical monolignols (PubMed:28385728)
Deletion mice are fertile, grow normally and exhibit no overt abnormalities; however loss of S100A4 results in impaired recruitment of macrophages to sites of inflammation in vivo (PubMed:20519440). Mice also show decreased metastatic burden in lungs of PyMT-induced mammary tumors which is associated with reduced vessel density (PubMed:20103644)
Disruption confers resistance to cellular contact-dependent growth inhibition (CDI) CdiA of D.dadantii strain 3937, but not to several other tested CdiA toxins
RNAi-mediated knockdown results in a reduced number of viable progeny following incubation with the DNA cross-linking agent cisplatin
No visible phenotype under normal growth conditions, but mutant plants are hypersensitive to the DNA-damaging agents methyl methanesulfonate (MMS) and menadione
Results in severe sensitivity against cell wall-disturbing compounds congo red or calcofluor white, and drastic alterations of the fungal morphology (PubMed:19715768). Leads to reduced conidiation during asexual differentiation (PubMed:32005734). Abolishes the production of fumiquinazoline C (PubMed:33705521)
Loss of kgb-1 activation (PubMed:15116070, PubMed:20008556). Hypersensitivity to high concentrations of copper (> 50 microM) and cadmium (>5 microM) and to food starvation which is characterized by a failure for most animals to reach adulthood. The few surviving adults appear starved and are defective in egg laying and are infertile (PubMed:11013217, PubMed:15116070). In addition, have moderate susceptibility to pathogenic bacteria infection characterized by a shorter lifespan and a substantial decrease in pmk-1 phosphorylation (PubMed:15256594). In absence of stress, animals have no obvious phenotype (PubMed:11013217, PubMed:15116070)
Morpholino knockdown has no effect on development till 18 hpf (PubMed:26095893). At 24 hpf, the embryos exhibit abnormal brain development with indistinguishable boundaries among different regions in the forebrain and a slightly reduced size of diencephalon (PubMed:26095893). A reduction in mature dopaminergic neurons is observed associated within learning and memory deficits (PubMed:26095893)
Impairs the mannosylation of beta-mannose chains on the acid-stable fraction of cell wall phosphopeptidomannan
No visible phenotype under normal growth condition, but exhibits reduced levels of auxin (IAA), reduced auxin response, reduced sensitivity to ethylene and shorter hypocotyls and petioles but larger leaf area when grown in simulated shade. Defective in root gravitropic response and shows an increased resistance to cytokinin in primary root growth
Irregular chromosome segregation during mitosis leading to death before the third instar larval stage. Larvae show abnormalities such as absence of imaginal disk tissue, and reduction in brain size
Leads to the accumulation of squalene
Thiamine uptake by pancreatic acinar cells from knockout mice was found to be significantly lower than uptake by pancreatic acinar cells of the wild-type littermates
Leads to limited hyphal growth in plants and extremely low germination rate of pycnidiospores
Grows poorly with filamentous cells, often with bulbous regions and a chain-like phenotype indicating possible defects in septum splitting and cell wall metabolism. Increased sensitivity to lysozyme. Decreased expression of the MtrA/MtrB regulon genes dnaA, ripA, and fbpB
No visible phenotype (PubMed:8083180, PubMed:12972253)
Does not affect vegetative growth, conidiation, or appressoria formation, but reduces in appressorial penetration and lesion development
Not required for growth in ambient air
Mice are viable and do not show overt phenotypic abnormalities, although there is some evidence for increased embryonic lethality, earlier death, and subfertility, associated with testicular and ovarian atrophy in mutant. Mutant mice embryonic fibroblasts are hypersensitive to DNA cross-linking agents and show increased chromosomal breakage compared to controls
Not viable shrunken seeds. Starch accumulation in mature embryos, cotyledon and hypocotyl cells. Developmental delay during early embryo morphogenesis
RNAi-mediated knockdown causes abnormal differentiation of the bloodstream form into the procyclic form, a reduction in the expression of several mRNA including differentiation protein PAD1, and premature death (PubMed:31743541). RNAi-mediated knockdown at the procyclic stage causes a decrease in growth rate (PubMed:31743541). Simultaneous RNAi-mediated knockdown of ZC3H20 and ZC3H21 at the bloodstream stage is lethal (PubMed:31743541). Simultaneous RNAi-mediated knockdown of ZC3H20 and ZC3H21 at the procyclic stage causes a severe growth defect and a shift towards a bloodstream form (PubMed:31743541)
Cells lacking this gene show hypersensitivity to hyperosmotic and, to a lesser extent, oxidative stress
Mice are viable and fertile, but have defects in balance/motor coordination tasks. Jph3 and Jph4 double knockout mice exhibit atypical depolarizing responses, irregular cerebellar plasticity due to abolished crosstalk in Purkinje cells. There is hyperphosphorylation of PRKCG and mild impairment of synaptic maturation. Exploratory activity, hippocampal plasticity and memory are impaired and there is abnormal foot-clasping reflex
In strain lacking this gene, consumption of the free fatty acids from the medium is reduced to about 50% of that of the wild-type. The mutant strain also appears to be 2-fold more sensitive to oleic acid than wild-type, whereas no changes in sensitivity to linoleic acid is observed. The mutant shows increased survival in blood with reduced adherence and internalization to human keratinocytes
In-frame deletion of blh reduces bacteriorhodopsin accumulation on solid medium but not in liquid. However, deletion of both brp and blh completely abolishes bacteriorhodopsin and retinal production in liquid medium, without affecting bacterioopsin accumulation, and the level of beta-carotene is increased by 5.3-fold
Mutation affects cysteine transport (PubMed:1310500). Inactivation of the gene leads to H(2)O(2) sensitivity and to growth inhibition in the presence of cysteine (PubMed:1310500). Mutant lacks functional cytochrome bd complex (PubMed:7934832). It is also defective in the assembly of periplasmic c-type cytochromes (PubMed:8181727). Mutant is much more sensitive to the lethal effects of heat than the wild-type strain (PubMed:1310500). Displays a cysteine-reversible defect in motility and sensitivity to benzylpenicillin and dithiothreitol (PubMed:12393891). Mutant is hypersensitive to high cysteine concentrations and accumulates higher cytoplasmic cysteine levels (PubMed:12393891)
Deficient mice are viable, fertile, and have no clear phenotypic differences from wild-type mice
Characteristics of a constitutive stress response, including dwarfism, closed stomata, and accumulation of anthocyanin and reactive-oxygen species. Accumulates elevated levels of PtdIns(4,5)P(2) and Ins(1,4,5)P(3) in roots. Hypersensitivity to salt stress. Late flowering, shorter roots with less lateral branching and low fertility. Abnormalities of cell wall and membrane structures in primary root cells
No visible phenotype, but mice display subtle behavorial deficits. Females show deficits in nest building and taking care of pups. Mice lacking the alpha-type isoforms of NRXN1, NRXN2 and NRXN3 are born at the expected Mendelian rate, but die during the first day after birth, probably due to neurological defects in the brainstem that impair normal breathing. These mice express normal levels of the beta-type isoforms of NRXN1, NRXN2 and NRXN3. Mice show reduced density of synapses in the brainstem, especially a reduction in the numbers of GABA-releasing synapses. Their brains display a reduced frequency of spontaneous neurotransmitter release, and decreased neurotransmitter release in response to an action potential. Likewise, the activity of voltage-gated calcium channels is strongly decreased. A small proportion (5-10%) of mice lacking the alpha-type isoforms of both NRXN1 and NRXN2 survive to adulthood; these mice do not show any gross anatomical defects in their brains or changes in the distribution of synaptic proteins, but they have fewer synapses in the neocortex and show defects in neurotransmitter release at neuromuscular junctions
No visible phenotype and no effect on drought stress response, probably due to the redundancy with RMA1 and RMA2
Ankrd45 mutants are viable and show no apparent defects. However mutant larvae developed enlarged livers when induced with liver specific expression of Kras G12V, one of the common mutations of KRAS that leads to cancer in humans
No visible phenotype, with no defects in cilium morphology. Double knockout with intraflagellar transport protein ift-139 results in defective cilium morphology and function
Delayed pollen germination and inhibition of pollen tube growth due to the disorganization and redistribution of actin filaments
Trichomes with increased branch number
TagA mutant aggregates elaborate multiple prestalk cell regions during development and produce spores asynchronously and with low viability. They produce about twice as many prestalk cells as the wild type as judged by a prestalk cell reporter construct. When mixed with wild-type cells, tagA-cells become overrepresented in the prestalk cell population, suggesting that this phenotype is cell-autonomous
Up-regulation of nlp-29 is severely impaired in the hyp7 epidermal cell but not in vulva epidermal cells following fungal infection by D.coniospora or physical injury
Hemocyte precursor cells start to differentiate normally, but never develop into mature hemocytes
Loss of bacterioruberins production
Cells lacking this gene show to a decreased growth rate at 85 degrees Celsius and a severe growth defect at 93 degrees Celsius. This mutant accumulates N1-aminopropylagmatine and agmatine at 85 degrees Celsius
Significantly decreases the radial growth of colonies under nutrient-rich conditions (PubMed:28894236). Strongly reduces conidiation (PubMed:28894236). Blocks autophagy (PubMed:30044782)
Mice display decreased hypermotility response induced by (+)SKF-10047 challenge and reduced formalin-induced pain (PubMed:14622179). Mice display motor coordination defects, muscle weakness, partial neuromuscular junction innervation, and motor neuron degeneration (PubMed:20167253, PubMed:25678561)
After germination, the pollen tube is sunted, curved and has an irregular morphology. No effect on the morphology of ungerminated pollen grains, on the efficiency of pollen germination, fertilization or seed production
Deletion mutant shows accumulation of 5-methoxyuridine (mo5U34) and 5-hydroxyuridine (ho5U34) in tRNA
Impaired maturation of 5.8S rRNA, especially the processing at the 5' end. Reduced siliques size due to defects in embryo and female gametophyte development (PubMed:23382868). Defects in guard cell function leading to reduced stomatal conductance and impaired water-use efficiency (PubMed:23185391)
Impairs the formation of germ tubes and true hyphae; and decreases virulence in a mouse model of systemic candidiasis. Leads to defective biofilm under normoxic conditions but not under hypoxic conditions
USP44-deficient mice show a significant increase in skin tumors when compared to wild-type mice (PubMed:33937266). In addition, they are prone to development of spontaneous tumors, particularly in the lungs (PubMed:23187126). USP44 loss causes also chromosome mis-segregation and aneuploidy (PubMed:23187126)
Simultaneous knockout of APOE and SLC12A3 results lower plasma Mg(2+) compared to plasma levels in wild-type and APOE knockout animals. Simultaneous knockdown of APOE and SLC12A3 shows no significant differences in aortic root atherosclerotic lesion intima area and thoracic-abdominal aorta lipid deposition as compared to APOE and double APOE and IL18R1 knockout animals. In contrast, simultaneous knockdown of APOE, SLC12A3 and IL18R1 results in significantly smaller aortic root intimal size and decreased thoracic-abdominal aorta lipid deposition. The triple knockout mice exhibit lower plasma K(+) and Mg(2+) compared to plasma levels in wild-type animals. The effect on atherosclerosis is due to IL18 activation of bone marrow-derived leukocytes, and possibly vascular cells, rather than to kidney tubular disorders or electrolyte disturbances
Deletion of icl1 has little effect on replication in media containing glycerol, glucose, short-chain fatty acids or long-chain fatty acids. Deletion of icl1 results in a modest reduction of the bacterial load in the lungs during the chronic phase but not the acute phase of infection, and reduces tissue pathology. Deletion of both icl1 and icl2 eliminates growth on fatty acids but has little effect on use of carbohydrates. Cells lacking both genes are incapable of growth in mice and are rapidly eliminated from the lungs and spleen
Aberrant morphology characterized by intraperoxisomal vesicles or invaginations
No visible phenotype. Worms show normal dorsal D (DD) GABAergic motor neurons rewiring. Worms lacking both myrf-1 and myrf-2 display defective DD neurons rewiring
Up-regulation of ssaA and sceD. Its inactivation shows no clumping and results in an apparent increased degree of cell separation which could be due to the up-regulation of sceD. Inactivation of both isaA and sceD genes results in a high degree of clumping and the double mutant is also attenuated for virulence
Deletion of the gene does not affect attachment or colony morphology
Impairs the production of oosporein and leads to the accumulation of orsellinic acid (PubMed:26305932)
Shows a slower growth rate on YPD and minimal medium at 15 degrees Celsius. Synthetically sick with temperature-sensitive CDC13-1 mutant
Bip1 and bip2 double mutation affects the fusion of polar nuclei during female gametophyte development (PubMed:20080634). Bip1 and bip2 double mutation affects pollen tube growth and length (PubMed:24486762). Bip1, bip2 and bip3 triple mutation is pollen lethal (PubMed:24486762). Bip1, bip2 and bip3 triple mutation affects female gametophyte development during the early stages (PubMed:26251880)
Resist development of obesity because of enhanced lipolysis and thermogenesis due, in part, to an increase in brown adipocytes number. On high fat diet (HFD), show reduced white adipose tissue (WAT) weight with smaller adipocyte size, improved glucose tolerance and insulin sensitivity with lower fasting glucose and insulin concentrations. Animals on HFD have higher and lower concentrations of adiponectin and leptin, respectively, compared to wild-type. They don't develop liver steatosis and have 57% less adipose tissue macrophage infiltration
No visible phenotype under normal growth conditions, but mutant plants have increased levels of high mannose N-glycans, decreased levels of complex N-glycans, and are insensitive to root growth inhibition by salt stress
Some mutants display multinucleate spermatids, sterility and asymmetric contraction of the contractile ring with subsequent collapse of the cleavage furrow
Leads to slower growth when feeded on bacteria, fewer slugs with lower migration, decreased spore production, reduced cell differentiation, and slightly abnormal prestalk differentiation
RNAi-mediated knockown leads to increased cell death, perhaps by apoptosis, in the germline and uterus of hermaphrodites (PubMed:18680432). Lipid contents in the intestine increase (PubMed:18680432). RNAi-mediated knockdown causes reduced ability of dietary restriction to extend lifespan (PubMed:24805825). Abolishes lifespan extension completely on an eat-2 mutant background, independent of whether knockdown is ubiquitous, or targeted only to the intestine (PubMed:24805825). Abolishes lifespan extension on either isp-1;ctb-1 double mutant, or isp-1, gas-1 or mev-1 single mutant backgrounds; knockdown is most effective when applied in early adulthood, rather than during early development (PubMed:31346165). Further decreases the lower movement rates of isp-1;ctb-1 double mutants (PubMed:31346165)
Deletion mutant shows enhanced viability, reduced p62 aggregation and reduced colocalization with LC3 and LAMP1 in bone marrow-derived murine macrophages (BMDMs)
Single disruption in strain PA04290 results in decreased pyocyanine synthesis (PubMed:2153661). Double phnA-phnB deletions are tryptophan prototrophs; they make less PQS (PubMed:23449919)
Does not affect the itaconic acid production (PubMed:26639528). Abolishes completely the production of 2-hydroxyparaconate (PubMed:27750034)
No visible phenotype under normal growth conditions, no change in RuBisCO large subunit levels, no change in RuBisCO carboxylase activity. During sulfur starvation deletion cells are protected against protein degradation
Leads to hypersensitivity to ion stress
Derepression of X-linked genes in the germline. RNAi-mediated knockdown results in sterility (PubMed:16710447). RNAi-mediated knockdown suppresses the multivulval phenotype of the lin-15A/B n765 mutant (PubMed:16507136, PubMed:16710447). RNAi-mediated knockdown at 25 degrees Celsius rescues the larval lethality phenotype of the mep-1 (q660) single mutants (PubMed:16710447)
Early flowering, short siliques and seed abortion (PubMed:20388662). The seed abortion occurs after fertilization and during embryogenesis (PubMed:20657173). Differential HSP expression, mainly during the recovery from heat shock (HS). Increased seedling survival rates during acquired thermotolerance (AT) tests, but not in response to basal thermotolerance (BT) tests (PubMed:20388662)
Liver-specific knockout mice display a growth retardation from the third postnatal week resulting in a 30% to 40% lower body weight than control mice at the age of 7 weeks (PubMed:15732085). Thereafter, mice tend to catch up in growth, and by 3 months their weight is not different from control mice (PubMed:15732085). Throughout this period, the mice look healthy, are fertile and liver function is unaffected (PubMed:15732085). However, 10-week-old mutant mice display a severe hepatomegaly due to hypertrophic and hyperplastic hepatocytes (PubMed:15732085). Mutant mice survive but develope extensive liver tumors from 12 months on (PubMed:15732085). Peroxisomes are absent in mutant hepatocytes and multiple ultrastructural alterations are noticed, smooth endoplasmic reticulum proliferation, and accumulation of lipid droplets and lysosomes (PubMed:15732085). Most prominent is the abnormal structure of the inner mitochondrial membrane (PubMed:15732085). This is accompanied by severely reduced activities of complex I, III, and V and a collapse of the mitochondrial inner membrane potential (PubMed:15732085). Liver-specific knockout mice display severely impaired oxidation of 2-methylhexadecanoic acid, the bile acid intermediate trihydroxycholestanoic acid (THCA), and tetradecanedioic acid (PubMed:17442273). In contrast, mitochondrial beta-oxidation rates of palmitate are doubled (PubMed:17442273). Lens-specific knockout mice develop cataracts (PubMed:33389129)
Knockout male mice lacking OVCH2 are sterile
Depletion of LHCA3 levels (at protein level)
Mice are viable and fertile but display multiple optic abnormalities resulting in blindness (PubMed:11493566, PubMed:11156601, PubMed:12451142, PubMed:26392540, PubMed:33712461). Normal hindbrain morphology, however mice show disruption of brainstem auditory signaling and binaural processing (PubMed:17977745). Loss of retinal circadian rhythm photoentrainment, and decreased expression of Opn5 (PubMed:12451142, PubMed:26392540). Loss of the retinohypothalamic tract connecting the retina to the suprachiasmatic nuclei (PubMed:12451142). Loss of axon bundles, optic nerves and chiasmata, with a decreased thickness of the retinal inner plexiform layer and inner nuclear layer (PubMed:11493566). Increase in cone photoreceptors and decrease in dopaminergic amacrine cells in the ganglion cell layer (PubMed:11493566, PubMed:33712461). Loss of retinal Pou4f2-expressing retinal ganglion cells resulting in a decrease in the thickness of the retinal cell layer and loss of the nerve fiber layer (PubMed:11493566, PubMed:11156601). Significant reduction in RGCs and compensatory increase in cone photoreceptors and neurogenic progenitor cells at 14.5 dpc (PubMed:33712461). The 1% of RGCs that survive into adulthood show severe axon guidance defects and extend into the retina instead of targeting the optic disk with only a few forming a rudimentary optic nerve (PubMed:33712461). No observable RGC axonal terminals in the brain and persistent retinal hyaloid vasculature into adulthood (PubMed:33712461). In Atoh7 and Bax double knockout mice, significant reduction in RGCs and compensatory increase in cone photoreceptor cells and neurogenic retinal progenitor cells at 14.5 dpc, however there is no difference in the number of RGCs derived from Atoh7-expressing cells and cone photoreceptors during adulthood (PubMed:33712461). Reduced light spatial receptive fields, slower light-driven responses and reduced pupillary light response (PubMed:33712461)
Enhanced late-flowering phenotype of the ftip1 mutant
No visible phenotype under normal growth conditions, but mutant plants grown on medium without sucrose show strong decrease in root growth and plants grown on soil under low light intensity have reduced rosette leaf expansion
Abnormal linear element formation (PubMed:33825974, PubMed:23395004). Abolishes localization of hop1 to meiotic chromosomal axis sites and DNA double-strand break (DSB) hotspots (PubMed:31665745). Severely decreases localization of rec15 to chromosomal axis sites (PubMed:31665745). Abnormal sporulation (PubMed:33825974)
Deletion mutant shows no detectable conjugative transfer of ICEBs1
Blocks production of sterigmatocystin and all sterigmatocystin intermediate substrates but does not affect transcription of the pathway genes
Impaired embryonic development with a 90 % rate of intrauterine or neonatal death. Surviving animals display a variety of abnormalities, including retarded growth, facial dysmorphology and male sterility. The effect on NER competence is reported conflictingly: According PubMed:11809813 no change in NER activity is found and according PubMed:15336624 a reduced NER activity is seen. Embryonic lethal with Rad23a and Rad23b double deficiency. Double deficient cells show reduced cell survival upopn UV radiation and reduced steady-state level of Xpc indicating a reduced NER capacity
No visible phenotype under normal growth conditioins
Cells lacking this gene accumulate gentisate
Embryonic lethal; embryos arrest prior to gastrulation and show lack of endodermal organization, failure to thin the distal tip visceral endoderm (VE), elongate the extra-embryonic portion of the egg cylinder and properly organize the epiblast. Loss of the specific megalin/LRP2 lipoprotein receptor distribution at the brush border at the apical cell edge in presumptive VE cells. Conditionally mutant mice are overtly normal, but have reduced clathrin-coated pits in kidney proximal tubule cells and excrete specific plasma proteins in the urine, consistent with reduced transport by LRP2 in the proximal tubule
In antisense plants, dwarf phenotype characterized by stunted axis, dark-green leaves, compact rosette structure, less small leaves, fewer flowers and seeds, and associated with a delayed development and late flowering (PubMed:11129039). In shl-2, acceleration of flowering, especially in short-days (SD), associated with a shorter adult vegetative phase. Other developmental defects include premature senescence, smaller leaves and siliques. Higher H3K9K14 acetylation in the genomic region of the SOC1 locus (PubMed:25281686)
Morpholino knockdown of both gas2l2.L and gas2l2.s resulted in mosiac embryos and impacted the number and distribution of basal bodies on the surface of ciliated cells (PubMed:30665704). As a result, ciliary orientation was significantly reduced (PubMed:30665704)
Cells lacking this gene are unable to grow in the absence of exogenous L-lysine
Mutants do not synthesize Und-PP-GlcNAc-ManNAcA (lipid II) and enterobacterial common antigen (ECA)
Loss of Cu-induction of copA, forms smaller than wild-type colonies when grown on 2 mM CuSO(4) (PubMed:11167016)
Leads to constitutive filamentous growth and abnormalities in both septin localization and organization. Exhibits greatly reduced virulence in a mouse model of systemic candidiasis
Strong reduction in the number of synaptic boutons at neuromuscular junction in third-instar larvae
Mutants are viable and show no significant growth deficiency and no alteration of cell morphology
Defects result in diverse phenotype of postnatal growth retardation, such as dwarfism, delayed puberty, abnormal reproductive function and mammary gland growth retardation
Complete lethality during early embryogenesis. Heterozygous mice are prone to liver steatosis. Compared to wild-type, heterozygotes show minor differences in blood glucose levels and in serum free fatty acid levels after fasting
RNAi-mediated knockdown inhibits expression of hsp-60 when adults are exposed to conditions causing mitochondrial unfolded protein stress (PubMed:17925224). Causes abnormal mitochondrial morphology (PubMed:17925224). Drastically reduces the protein level of hda-1, possibly via ubiquitin-mediated degradation (PubMed:32934238). Under conditions of mitochondrial stress, partially suppresses nuclear accumulation of lin-40 and lin-53 (PubMed:32789178)
Lethal at an early embryonic stage due to defects in angiogenesis, vasculogenesis and hematopoiesis. Mice exhibit low levels of KDR/VEGFR2
Isoforms a and c: Partial sensitivity to the heavy metal Cu(2+), which is characterized by a failure of larvae to reach adulthood. Partial reduction in basal kgb-1 phosphorylation and after Cu(2+) treatment (PubMed:20008556). Several DD and DC motoneuron axons fail to reach the dorsal cord. RNAi-mediated knockdown causes a similar phenotype but less severe. In max-2 and pak-1 double mutants, defect in axonal guidance is more severe. Animals are also uncoordinated, defective in egg laying and in distal tip cell (DTC) migration, morphology and guidance, and exhibit ventral enclosure defects (PubMed:17050621). A more severe phenotype has been reported where double mutant animals have embryonic morphogenesis defects resulting in lethality. The few surviving adults are sterile and often have truncated gonads which, in some cases, lack sperm. RNAi-mediated knockdown rescues embryonic lethality of pak-1 and pak-2 double mutants (PubMed:23390595)
Disruption of the gene decreases sporulation (PubMed:9334321). Deletion mutant grows less well than wild type on minimal medium with ammonium as nitrogen source and cannot grow on 5-oxoproline. Mutant lacks 5-oxoprolinase activity and accumulates 5-oxo-L-proline (PubMed:28830929)
Results in reduced growth on copper or iron depleted media and the inability to grow on media with a non-fermentable carbon source
Elevated serum bile acid, cholesterol, and triglycerides, increased hepatic cholesterol and triglycerides, and a proatherogenic serum lipoprotein profile. Reduced bile acid pools and reduced fecal bile acid excretion
Strongly decreases the production of fumagillin (PubMed:24568283)
Mice show no obvious phenotypic changes and no significant motor deficiencies. However, they show abnormalities in a number of complex behaviors including exploration, socialization, motor coordination, learning and reversal learning
Despite normal fertility, impaired pollen coat exine pattern formation with reduced sporopollenin levels, associated with altered pollen germination (PubMed:29390074). Plants lacking both SEC23A and SEC23D are semi-sterile and exhibit developmental defects in pollen (especially at the late uninucleate stage) and tapetal cells, including defective exine and intine, as well as signs of cell degeneration and structural abnormalities in organelles of the male gametophytes (PubMed:29390074)
Number of germline apoptotic corpses is decreased in response to ionizing radiation-mediated DNA damage but not following UV-induced DNA damage (PubMed:27669035). Delay in the dissociation of rad-51 from DNA damage foci (PubMed:27669035). In a hecd-1 (tm2371) mutant background, the decrease in the number of germline apoptotic corpses is more severe (PubMed:27669035). In an atx-3 (gk193) mutant background, prevents the increase in the number of germline apoptotic corpses (PubMed:27669035). RNAi-mediated knockdown in an unc-45 (m94) mutant background restores motility (PubMed:17369820)
Embryonic lethality leading to aborted seed development
RNAi-mediated knockdown results in partial loss of resistance against M.sexta larvae, impaired systemic induction of late wound response genes and in reduced levels of cell wall homogalacturonan (HG) and pectin methylesterification (DM)
Increases the susceptibility to rhodamine 6G, cycloheximide and chloramphenicol, and also increases rhodamine 6G accumulation (PubMed:12557277). Suppresses the development of high-frequency azole resistance (HFAR) in a medium containing fluconazole (PubMed:11257032). Impairs the blockage of the efflux of fluconazole by milbemycin A4 oxime when CDR1 is also deleted (PubMed:24838041)
RNAi-mediated knockdown in larvae increases lipid droplet size and reduces lipid droplet number in fat bodies
Suppressor of sav3 mutant plants leading to rescued hypocotyl elongation in response to shade and restored auxin biosynthetic pathway. In continuous white light, elongated hypocotyls and petioles, with increased leaf hyponasty, decreased leaf area, and accelerated leaf senescence as well as early flowering. Increases levels of auxin (IAA), indole-3-pyruvic acid (3-IPA) and the ethylene precursor 1-aminocyclopropane-1-carboxylate (ACC) (PubMed:23377040). Indole-dependent auxin (IAA) overproduction phenotypes including leaf epinasty and adventitious rooting. In contrast to normal plants, uses primarily Trp-independent (Trp-I) IAA synthesis when grown on indole-supplemented medium, but uses primarily Trp-dependent (Trp-D) IAA synthesis when grown on unsupplemented medium. Accumulates strongly IAA and Trp when grown on indole, probably due to loss of Trp catabolism. Altered phenylpropanoid profile (PubMed:26163189)
Severe reduction in wax alkyl esters (PubMed:18621978). Reduced wax ester coverage on leaves and stems during normal and drought conditions leading to compromised growth and relative water content due to an increased leaf water loss, especially during drought (PubMed:30729606)
Mice display a spectrum of cardiac malformations including ventricular septal defects, tetralogy of Fallot and tricuspid atresia. The penetrance of the cardiac malformation phenotype varies according to the strain, suggesting the presence of modifier genes
No visible phenotype in normal conditions: mice are fertile and develop normally without any apparent malformation (PubMed:26439841, PubMed:27315781). In mice model of chronic inflammation, mice develop more severe colitis induced by dextran sodium sulfate (DSS) (PubMed:26439841). Mice display less microglial accumulation; decreased microglial activation is observed in the brain after systemic lipopolysaccharide administration (PubMed:27315781). Mice also show behavioral abnormalities, possibly caused by monoamine deficits (PubMed:28336432). Mice display reduced anxiety-like behavior and brain inflammation in a model of Alzheimer disease (PubMed:28624505)
Cells lacking this gene are unable to utilize exogenous ferric vibriobactin but synthesize the siderophore normally
No visible phenotype (PubMed:24212091, PubMed:26057074). Although slightly smaller, mice are grossly normal. Only minor alterations in basal energetics are observed. Cells show a strong reduction, but not a complete absence, of mitochondrial matrix calcium. The skeletal muscles exhibit alterations in the phosphorylation and activity of pyruvate dehydrogenase and mice show defects in ability to perform strenuous work. Mitochondria lack evidence for calcium-induced permeability transition pore (PTP) opening (PubMed:24212091). Mitochondria from mutant mouse heart muscle have impaired Ca(2+) uptake and reduced Ca(2+) levels in the mitochondrial matrix; still, mutant mice have apparently normal heart function and display no cardiac defects (PubMed:26057074). Conditional mutant mice with cardiomyocyte-specific deletion of Mcu in adults display no overt baseline phenotype and are protected against mitochondrial calcium overload by preventing the activation of the mitochondrial permeability transition pore (PubMed:26119742, PubMed:26119731). Mice however lack contractile responsiveness to acute stress and 'fight-or-flight' response: they produce mitochondria refractory to acute calcium uptake, with impaired ATP production and inhibited mitochondrial permeability transition pore opening upon acute calcium challenge (PubMed:26119742, PubMed:26119731)
Reduced size of leaves, sepals, petals and seeds. Increased leaf number
Decreased sensitivity to auxin and N-1-naphthylphthalamic acid, an auxin transport inhibitor. Reduced plant height and decreased panicle length, and grain size and weight. Altered auxin transport
Cells with a disrupted or mutated protein do not have carboxysomes, instead have less dense inclusions, do not grow in normal air (PubMed:2509426). Targeted disruption do not grow normally in air but have wild-type growth in 3% CO(2), called a high-CO(2) requiring phenotype, HCR. Cells have a single polar aggregate instead of carboxysomes; RuBisCO localizes to polar spots consistent with the polar aggregates (PubMed:22461622, PubMed:24267892)
Unable to grow on minimal medium unless supplemented with myristic acid
Cells lacking this gene have a normal growth phenotype, but are unable to survive in a competitive growth situation with the wild-type strain. They display only the t(6)A but not the ct(6)A modification in tRNAs, and have lower decoding efficiency than wild-type. They show no defects in motility or antibiotic sensitivity. In growth competition experiments, a tcdA mutant shows reduced fitness compared to wild-type, but outcompetes a csdA mutant
Leads to delayed conidia development (PubMed:17213655, PubMed:19850144)
Flies show reduced viability, with between 20 to 35% surviving until adult stages and both male and female flies showing significantly reduced fertility (PubMed:11511545). E2f1 and E2f2 double mutants die at the pupal stage during development compared with E2f1 mutants that die earlier at the larval stage, indicating that E2f1 and E2f2 functionally antagonize each other in vivo. According to PubMed:11748144, flies are viable, with males that are fully fertile and females that are partially sterile. p53 and E2f2 double mutants exhibit substantially more apoptosis at 20 and 24 hours after exposure to IR as compared to p53 single mutants, indicating that E2f2 limits IR-induced p53-independent apoptosis
Suppressor of sni1 mutation symptoms including the accumulation of DNA damage leading to a constitutively activated DNA damage responses (DDR) and increased basal expression of pathogenesis-related (PR) genes
Disruption of the gene enhances resistance to osmotic stress, increases resistance to several peptidoglycan biosynthesis inhibitors, decreases peptidoglycan thickness, enhances antibiotic resistance and activates genes in the SigF regulon
Viable and fertile with upward bent (curled) wings and proximally crossed posterior scutellar bristles (PubMed:19581445). RNAi-mediated knockdown has a similar phenotype (PubMed:19581445). RNAi-mediated knockdown in the wing, nervous system, ring gland, muscles, fat body, tracheal system, salivary gland, or gut has no impact on wing morphogenesis (PubMed:19581445)
Mutant mice are viable, but display hearing loss at all frequencies
Reduced plant size. Delayed transition from vegetative to reproductive growth. Reduced panicle size with overgrown bracts at their bases
Leads to misfolding of elongation factor 1-alpha resulting in proteotoxic stress, accumulation of cytosolic protein aggregates, increased expression of heat shock transcription factor HSF1, and inhibition of protein synthesis (PubMed:36630955). Inviable (PubMed:36630955)
Myl2 homozygous die at 12.5 dpc, which is associated with ultrastructural defects in ventricular sarcomere assembly, that included disruptions and disorganization of the normal parallel alignment of the thick and thin filaments, narrower fiber widths and larger distances between Z disks and misalignment of Z-band between sarcomeres
Reduced leaf width. Enhanced disease resistance to the bacterial pathogen Pseudomonas syringae pv. tomato
Causes lethality during development (PubMed:17159295). Induced silencing shortens life span (PubMed:17159295)
leads to increased sensitivity to Congo red, Calcofluor white, and zymolyase, delayed filamentation, a higher surface hydrophobicity, increased adherence and flocculation; as well as to a diminished ability of protoplasts to recover their cell wall
RNAi-mediated knockdown in procyclic form does not affect growth rate (PubMed:31743541). Simultaneous knockdown of ZC3H20 and ZC3H21 in the procyclic form results in a severe population growth defect and a shift towards the bloodstream form transcriptome (PubMed:31743541). Simultaneous knockdown of ZC3H20 and ZC3H21 in the bloodstream form is lethal (PubMed:31743541)
15-fold reduction in cytopathic effects in human monocyte-derived macrophages
Plants display leaves with yellow stripes. Iron-phytosiderophore transport is increased at low pH and inhibited by the proton uncoupler CCCP
HEPHL1 knockdown mice exhibit short and curled whiskers
Decreased locomotion velocity (PubMed:27585848). Restores normal quiescence during molting between larval and adult stages, in neuropeptide receptor npr-1 mutant background (PubMed:27585848)
Pigment defective embryo arrested at cotyledon stage in homozygous plants, partially rescued when grown on sucrose-containing medium (PubMed:15266054, PubMed:22495966). Retarded growth and greening. Reduced abundance of both the excised intron and the spliced product from ycf3-2 and trnA (PubMed:22495966)
Morphological arrest at the mound stage and a defect in cell-type differentiation. Instead of going through morphogenesis, after 16 hours of development, the mounds disaggregate to form smaller aggregates that eventually produce abnormal looking finger-like structures
Results in yellow fluorescent conidia and accumulates aspulvinone E in conidia
Impairs the production of melanin and leads to an albino phenotype (PubMed:9620950, PubMed:15321679, PubMed:15812003, PubMed:17343676, PubMed:19156203, PubMed:26701308). Blocks the synthesis of the intermediate 1,3,6,8-tetrahydroxynaphthalene (1,3,6,8-THN) (PubMed:9620950). Results in an altered conidial surface with masked surface rodlet layer, leaky cell wall allowing the deposition of proteins on the cell surface and exposing the otherwise-masked cell wall polysaccharides at the surface (PubMed:19703288, PubMed:24818666, PubMed:26972005). Results also in a dramatic reduction of virulence in a mice models of infections (pulmonary and cutanous) with efficient complement component C3 binding on conidial surfaces and increased neutrophil-mediated phagocytosis (PubMed:9620950, PubMed:9832321, PubMed:12464010, PubMed:20145078, PubMed:21501368, PubMed:21747802, PubMed:21573171, PubMed:24836942). Decreases also the protection of conidia against amoeba predation (PubMed:25684622). Decreases significantly the ability of conidia to activate platelets and to induce platelet aggregation (PubMed:25810442). Causes enhanced insect mortality compared to the parent strain in a wax moth Galleria mellonella infection model, probably through exacerbated immune response of the wax moth (PubMed:19156203)
Mutant is still able to take up isoleucine, leucine and valine
Mice are viable and fertile, but show impaired memory retention. Lrrn4-deficient mice are able to maintain memories for one day in hippocampus-dependent learning tasks, but are unable to retain memories for four days after learning. In contrast, in hippocampus-independent tasks Lrrn4-deficient mice normally retain memories for at least seven days
No visible phenotype; due to the redundancy with PGRL1B. Pgrl1a and pgrl1b double mutant grows slowly and has pale green leaves
Cells form a higher number of smaller aggregates
Knockout animals present with reduced grip strength and diminished vertical activity. Progressive dilatation can be observed in the aortic root at the level of the sinuses of Valsalva and distal ascending aorta, and aneurysms of the distal ascending aorta are becoming visible at the age of 8-12 weeks. Generally, males are more severely affected, exhibiting larger aortas and experiencing dissection and/or rupture more frequently than females
Embryonic stem cells are highly sensitive to ionizing radiation and have intrinsic DNA double-strand break repair defects (PubMed:17360556). In contrast, knockout mice only have a relatively mild phenotype with no growth defects, neuronal cell death or overt immunodeficiency (PubMed:18775323). Mature lymphocyte numbers are slightly decreased, and pro-B lines, while ionizing radiation-sensitive, perform V(D)J recombination at nearly wild-type levels (PubMed:18775323). Mice lacking both Paxx and Nhej1/Xlf show embryonic lethality caused by severe defects in classical non-homologous end joining (NHEJ) (PubMed:27601299, PubMed:27798842, PubMed:27601633, PubMed:27830975, PubMed:28051062, PubMed:29077092). Mice lacking both Cyren and Nhej1/Xlf show embryonic lethality caused by severe defects in classical non-homologous end joining (NHEJ) (PubMed:30017584)
Deletion mutants display increased resistance to oxidative stress and increased catalase activity
RNAi-mediated knockdown results in reduced levels of urmylation and increased resistance to oxidative stress
Mild metabolic effects (PubMed:29664675, PubMed:30431159). Mice grow normally and glucose metabolism in male or female mice is normal (PubMed:29664675). Minimal metabolic effects are observed: female mice display a minor decrease in fat accumulation when fed Western diet and have a lower respiratory exchange ratio when fed chow diet (PubMed:29664675). Mice also exhibit a subtle phenotype in response to lipopolysaccharide administration, characterized by slight changes in the metabolome associated with glycolysis (PubMed:30431159)
RNAi-mediated knockdown results in fragmented mitochondria, most likely due to lack of fusion activity (PubMed:25190516, PubMed:33734301). RNAi-mediated knockdown in a moma-1 mutant background results in mitochondrial fragmentation (PubMed:21248201). In a drp-1 mutant background, partially restores some tubular mitochondria (PubMed:33734301). Upon acute heat stress, in a drp-1 mutant background, autophagosomes clustered at mitochondria are detected in the epidermis (PubMed:33734301)
Delays trap formation and weakens nematocidal activity (PubMed:35142828). Does not affect mycelial growth, conidia production, conidial germination rates and adaption to environmental stresses (PubMed:35142828)
Cells missing both S17 and L29 grow very slowly and have a rather unstable temperature-sensitive phenotype
Unable to grow heterotrophically on glucose in the dark. Cells photobleach and have significantly reduced survival in 4% ethanol, reduced tolerance to internally produced ethanol
No visible phenotype, due to the redundancy with other RGF genes (PubMed:20798316). Hypersensitivity to low phosphate ion (Pi) with respect to circumferential cortex and epidermis cell quantities (PubMed:25856240). Triple mutant rgf1-rgf2-rgf3 shows a decreased meristematic cell number resulting in a short root phenotype (PubMed:20798316)
Increased sensitivity to acetaldehyde and hypersensitivity to ethanol
Deletion mutants show increased flagella and fimbriae production, are hypermotile, and exhibit increased biofilm formation
RNAi-mediated knockdown reduces expression of sod-3 (PubMed:28940692). RNAi-mediated knockdown on a cep-1 mutant background increases germ cell apoptosis (PubMed:28940692)
Flies exhibit wing blisters and flight impairment
Leads to the production of dark red conidia (PubMed:28447400). Does not affect virulence (PubMed:28447400)
Homozygous loss of the gene is embryonic lethal. Mutant animals have dramatically reduced body size, reduced limb bud outgrowth, microphthalmia to anophthalmia and forebrain abnormalities ranging from microcephaly to holoprosencephaly. Brains of mutant mice have reduced cycling and proliferating radial neuroepithelial progenitor cells compared to wild-type, with a more profound loss of cells that depend upon asymmetrical cell divisions. These cells also show evidence of increased apoptosis
Cells lacking this gene no longer produce erythromycin A but accumulate the B and D forms of the antibiotic
Leads to lysine auxotrophy (Ref.2). Impairs the production of the gamma-pyrones fusapyrone (FPY) and deoxyfusapyrone (dFPY) (Ref.2)
Not essential, disruption of rpfC alone has no effect on growth or survival in liquid culture, nor in mouse infection models, although colony size is reduced. Alterations in gene expression are seen. All 5 genes in this family can be deleted without affecting growth in culture, however triple deletion mutants (rpfA-rpfC-rpfB or rpfA-rpfC-rpfD) are not able to resuscitate spontaneously in the presence or absence of O(2), and are attenuated in a mouse infection model
Mice exhibit severe multi-organ inflammation and systemic cell death, which causes lethality of animals late in gestation or shortly after birth (PubMed:24813849, PubMed:30185824). Perinatal lethality observed in Ripk1 knockout mice is rescued in knockout mice lacking both Ripk1 and Ripk3; mice however die the first days of postnatal life (PubMed:24813849, PubMed:24813850, PubMed:27819681, PubMed:27819682). Perinatal lethality observed in Ripk1 knockout mice is rescued in knockout mice lacking both Ripk1 and Casp8; mice however die the first days of postnatal life (PubMed:24813849). Only mice lacking Ripk1, Ripk3 and Casp8 survive past weaning and rescue lethality caused by the absence of Ripk1 (PubMed:24813849, PubMed:24813850)
No effect on antibiotic resistance; double sigM-sigX mutants have 130-fold increases sensitivity to the beta-lactam antibiotic cefuroxime (PubMed:22211522). Association with RNAP core increases during many stresses (at protein level) (PubMed:21710567)
Mutant pups are born at the expected Mendelian rate and appear grossly normal, but lack suckling behavior. As a consequence, all die shortly after birth, except when they are fed manually via a soft tube that delivers milk directly into the stomach. While mutant neonate brain structures are grossly normal, the mutant brain stem trigeminal complex lacks the neural repeating units called barrelettes that correspond to whisker-associated nerve fibers. Primary afferent nerve fibers from whiskers fail to show normal clustering in the region where barrelette structures form in wild-type. In contrast, nasolabial motor neurons appear normal. Contrary to wild-type neonates, brain slices from the mutant neonate hippocampus CA1 region lack NMDA receptor-type ion channel activity. Contrary to wild-type pups, prolonged low frequency stimulation of afferent fibers does not induce long-term depression (LTD) in the hippocampus
Homozygous mice for PDSS2 are embryonic lethal (PubMed:18437205, PubMed:21871565). The oldest PDSS2 embryo identified is at E9.5, and its morphology resembles normal E6.5 mouse embryo, so the development of mutant embryo may be blocked at late gastrula stage (PubMed:18437205, PubMed:21871565). Conditional knockout mice lacking PDSS2 in cerebellum show severe cerebellum hypoplasia during cerebellum development, whereas conditional knockout mice lacking PDSS2 in Purkinje cells at postnatal stages leads to the development of cerebellar ataxia (PubMed:21871565). Conditional knockout mice lacking PDSS2 in glomeruli show interstitial nephritis characterized by greatly dilated tubules and extensive interstitial infiltration associated with hypercholesterolemia (PubMed:18437205). Liver-conditional knockout mice have no overt disease but their livers have undetectable COQ9 levels, impaired respiratory capacity, and significantly altered intermediary metabolism (PubMed:18437205)
Decreased yields of PSII dimers with increased PSII monomers, slightly slower photoautotrophic growth, about 20% less oxygen evolution. Formed PSII dimers are stable
Exhibits growth and cytokinesis defects
Mice develop normally, are viable and fertile but develop hypertension. They display increased body weight associated with impaired maturation of pro-NPPA which can be restored by injection of Corin. Spontaneous and salt-sensitive hypertension exacerbated during pregnancy is also noticed. A cardiac hypertrophy is also detected together with a decline in cardiac function later in life (PubMed:15637153). Blood pressure on a high-salt diet is significantly increased: knockout mice show an impairment of urinary sodium excretion and an increase in body weight, but no elevation of plasma renin or serum aldosterone levels (PubMed:22418978). Conditional knockout mice which express Corin in heart only do not display any visible phenotype in non-pregnant mice. In contrast, pregnant conditional knockout mice develop high blood pressure and proteinuria, characteristics of pre-eclampsia. In these mice, trophoblast invasion and uterine spiral artery remodeling are markedly impaired (PubMed:22437503)
No visible phenotype in normal conditions (PubMed:27631783). Mice are protected against TNF-alpha-induced systemic inflammation: they show a reduction in the inflammatory response, but not in early systemic necroptosis (PubMed:27631783)
Deletion alters the expression of 1544 genes
No visible phenotype and no visible effect on pollen tube growth. Decreased severing frequency of actin filaments. Vln2 and vln5 double mutants have pollen tubes curled and wider at some regions along the tube. They accumulate actin filaments at the tips of pollen tubes (PubMed:23715472). Vln2 and vln3 double mutants show anomaly in the growth direction of organs (PubMed:22209875) and defects in sclerenchyma development, but no alterations in the secondary cell-wall machinery (PubMed:22563899)
Significantly increases oosporein production (PubMed:26305932)
Leads to the clumping or clusterings of cells from early exponential phase, and to increased hyphal growth on solid media
Mutant shows increased levels of Ap4G, Ap4U, Ap3A and Ap4A (PubMed:32152217). Cells form pellicles that are initially flat and thin. The pellicles finally become thicker, their flat surfaces are broken by a number of broad pits, the inner surface of which are covered with fruiting bodies. The colonies also show a defect in gross morphology, in that their central region is flat ang glossy (PubMed:15175311)
Complete male and female sterility
Egg-laying defects, defective oogenesis in 23% of mutants, reduced brood size and increased resistance to oxidative stress inducer paraquat (PubMed:20578245, PubMed:21248201). Abnormal mitochondrial morphology with mitochondria appearing larger, thinner and connected with large pores in the outer mitochondrial membrane (PubMed:21248201). Mitochondria also have elongated and curved cristae that are stacked with a reduced number of junctions (PubMed:21248201). Double knockout with immt-1 results in a more reduced brood size and enhanced resistance to paraquat-induced oxidative stress as compared to the single mutant, and in addition, mutants are slower swimmers, have increased hydrogen peroxide-induced reactive oxygen species (ROS), and reduced mitochondrial mass accompanied by reduced superoxide anion oxidation (PubMed:20578245)
No visible effect in the absence of stress (PubMed:24373067). Reduces MqsR-mediated persistence (overexpression of MqsR increases persister cell formation). Decreased biofilm formation after 8 hours at 30 and 37 degrees Celsius, biofilm production has risen by 24 hours. Slight decrease in swimming motility (PubMed:22941047). Cells grown in 20 ug/ml ampicillin in the absence of ghoT and which overexpress MqsR elongate, suggesting MqsR inhibits cell elongation via ghoT (PubMed:23289863). When single mutant is grown in the presence of antibiotics carbenicillin or cefoxitin initial metabolism is significantly increased over that of wild-type, after 14 hours wild-type is slightly less active. In a double ghoS-ghoT mutant in presence of the 2 antibiotics metabolism is significantly increased over that of wild-type, but by 9 hours wild-type has caught up and eventually has slightly greater metabolic rates (PubMed:24373067)
Adults display disrupted sleep. Consolidation of daytime sleep is decreased, particularly in males, such that the number of bouts is increased and bout duration is decreased. Adults are more easily roused from sleep and have impaired sleep rebound, thereby recovering sleep more slowly after sleep deprivation. Mutants infected with S.marcescens or E.coli at zeitgeber time 18 (ZT18) show a significant reduction in infection-induced sleep during ZT0 to ZT2 the next morning
Results in early embryonic lethality
No effect on mouse development and oogenesis, but embryos derived from oocytes from Kdm1b-deficient females die before mid-gestation
Conditional knockout mice are fertile but rapidly die around week 26. Mitochondrial morphology is severely altered in the central and peripheral nervous system, as well as in the cerebellum
Cells fail to secrete PGA into the medium
Mice have reduced response to angiotensin-2 and lowered RhoA signaling pathway
Decreased biofilm formation, decreased expression of DgcC, a probable diguanylate cyclase and of the curli regulator CsgD (PubMed:19332833). Disruption leads to decreaseded expression of adhesive curli fimbriae genes (PubMed:18765794). Also partially suppresses the reduced motility of a pdeH disruption; concomitant disruption of dosC, dgcE, dgcQ and dgcN completely restores motility, suggesting these 4 genes, together with the c-di-GMP phosphodiesterase PdeH, form a network that regulates cell motility by altering levels of c-di-GMP
Cells lacking this gene are not able to grow on acetate as a sole carbon source
Mutants exhibit wild-type swimming motility in liquid, but they exhibit a severe defect in flagellum-dependent swarming motility (PubMed:33649146). Mutants are not defective in flagellar assembly (PubMed:33649146). They have a slight but statistically significant reduction in the number of flagellar hooks and basal bodies (PubMed:33649146)
Leads to meiotic defects
Leads to the accumulation of intermediary metabolites destruxin B, destruxin B2 and desmethyl-B (PubMed:22232661)
Loss of N(1)-methyladenine(2142) in 25S rRNA. Confers anisomycin and peroxide sensitivity to the cells as well as slight defects in ribosome subunit joining
No visible effect on colonization of host tissue culture cells; decreased organ colonization in mice
Impaired polarity. Starved mutant cells differentiate, and in response to the chemoattractant cAMP retain directional sensing; however, they cannot attain a polarized morphology, but instead extend mislocalized pseudopodia around the cell and exhibit decreased velocity. In response to chemoattractant, mutant cells lack a leading edge localization of F-actin and have significantly attenuated de novo F-actin polymerization but increased abundance of membrane-associated phosphatidylinositol 3,4,5-trisphosphate. However, they retain directional sensing
Homozygous lethal in gem1-1 mutant. No visible phenotype under normal growth condition in mor1-1 and mor1-2 mutants, but the restrictive temperature of 29 degrees Celsius causes cortical microtubule shortening and disorganization, left-handed helical growth of root, disrupts microtubule arrays during mitosis and cytokinesis and alters plant morphology and organ development
RNAi-mediated knockdown results in larval growth defects, strong larval lethality and strong reduction of ecdysteroid peak level required to proceed to pupal stage (PubMed:25628335). RNAi-mediated knockdown in the prothoracic gland results in larval growth defects and lethality at the third larval stage, with a complete lack of pupariation (PubMed:25628335)
According to a report, mice die of respiratory failure shortly after birth (PubMed:10400672). According to a second report, mice exhibit perturbed terminal branching of motor neurons to the endplate of skeletal muscles, resulting in poor formation of the neuromuscular junction (PubMed:23261301)
Lethal when homozygote. Reduced pollen tube growth when heterozygote
Loss of contact-dependent growth inhibition
Distorted reduced growth leading to small plants, and impaired fertility. At the seedling stage, a delay in leaf initiation and distorted leaf shape were characteristic of the silenced lines
Reduced endoreduplication and reduced expansion in trichomes and other leaf cells. Longer roots. Root meristem contains more dividing cells with a delayed onset of endoreduplication
Cells exhibit reduced viability under hyperosmotic conditions. They produce smaller aggregates on membrane filters and do not form aggregation streams on a plastic surface under submerged starvation conditions, but are normal in sexual development. During early asexual development, the expression of cAMP related genes peaks earlier in the knockout mutants. Neither cAMP oscillation in starved cells nor an increase in the cAMP level following osmotic stress was observed in mutants lacking krsA
Reduced accumulation of vindoline and tabersonine, increased biosynthesis of catharanthine, but normal levels of ajmalicine
Mutants fail to produce oxytetracyline but instead synthesize novel polyketides of shorter chain length
Mutants require menaquinone for their growth
Mice are viable but show male sterility due to defects in spermatogenesis. Retrotransposons are derepressed due to DNA demethylation. Defects are caused by impaired piRNA expression
Shows impaired de novo coenzyme Q biosynthesis
Knockout mice exhibit inflammation and lesions in the cardiovascular, respiratory, digestive or excretory systems, neuropathology, and tumors, with high incidence
No visible phenotype. Probably due to the redundancy with other receptor-like kinases
Mutant is unable to convert 4-hydroxybenzoate into 3-octaprenyl-4-hydroxybenzoate and is ubiquinone-deficient
Enhances flocculation, filamentous growth, and hypha-specific gene expression in several media and at several growth temperatures
Leads to reduced levels of beta-1,3-glucan in the cell wall and impairs pathogenicity in an experimental murine model of invasive pulmonary aspergillosis (PubMed:18456861, PubMed:18298443, PubMed:19015336). Increases sensitivity to heat shock (PubMed:18298443)
Mutant in strain LAC grows similarly to wild-type in rich laboratory media, but has a reduced ability to survive in whole human blood
RNAi-mediated knockdown results in embryonic lethality due to developmental arrest during morphogenesis (PubMed:30279189). RNAi-mediated knockdown in the syncytial gonads of adult hermaphrodites results in some inviable embryos and then eventually no egg laying (PubMed:10656761). RNAi-mediated knockdown at the L1 larval stage results in the accumulation of unspliced mRNAs including ama-1 and ife-4 in the cytoplasm, and specifically in the production of an irregular unspliced form of the sex determining protein tra-2, which accumulates in the cytoplasm and inhibits the regular tra-2 isoforms a and c reducing their expression and disrupting their nuclear localization (PubMed:23149939). RNAi-mediated knockdown in L4 hermaphrodite larvae, results in no viable embryos and egg laying ceases due to masculinization of the germline (also called a mog phenotype) with animals producing undifferentiated germ cells and sperm instead of oocytes (PubMed:10656761, PubMed:14706697). In these animals, sperm are distributed throughout the germline, including the distal tip region (PubMed:10656761). RNAi-mediated knockdown does not result in masculinization of the germline in some animals, but these animals still do not produce oocytes with germlines appearing disorganized (PubMed:10656761). RNAi-mediated knockdown reduces the expression of pie-1 in P2 blastomeres (PubMed:30279189)
Dwarf, narrow leaves, low tillering and low fertility phenotypes
No visible phenotype (PubMed:26947269, PubMed:27216227). The atbest1-1 atbest2-1 double mutant has a reduced non-photochemical quenching (NPQ) during the dark-to-light transition similarly to the atbest1-1 single mutant (PubMed:26947269, PubMed:27216227)
RNAi-mediated knockdown results in a failure to shed the cuticle in the middle part of the body at the end of the first molt
Embryonic lethality before 12.5 dpc
Enhancement of both microviscosity and lipid/protein ratio of mitochondrial membranes, which in turn were responsible for the change in lateral mobility of lipids and for bioenergetic parameter modifications (PubMed:11104757). Increased membrane rigidity and cold sensitivity (PubMed:17507388). Hypersensitivity to salt or osmotic stress (PubMed:22279586)
Late-flowering phenotype under short day (SD) and natural day (ND) conditions. Extreme late-flowering phenotype under long day (LD) conditions
Results in the loss of zearalenone production but still produces beta-zearalenonol (PubMed:16262793)
Reduction of OEP7 targeting to plastids
Cells develop only to the mound stage and accumulate a bright yellow pigment
RNAi-mediated knockdown causes abnormal gonad morphology, enlarged sperm nuclei and aberrant progression through meiosis. Oocytes appear to have undergone endomitotic reduplication
Causes severe chromosome missegregation without greatly affecting sporulation itself. Reduces recombination by 16- to 76-fold
Leads to strongly decreased virulence
Viable, with enhanced resistance to diet-induced hypercholesterolemia and atherosclerosis (PubMed:10744778). Increased bile acid levels in blood, liver and gastrointestinal tract, associated with significantly reduced levels of FGF15 in the ileum (PubMed:23747249)
Morpholino knockdown causes severe defects in embryonic development, with microphthalmia, a curved body axis and heart edema. The morphant hearts do not loop normally, heart atria are strongly dilated and blood circulation is severely impaired. Morphants have an altered morphology of the craniofacial skeleton, with malformation of the first and second arches and absence of the branchial arches. Embryonic heads at 4 dpf display reduced total retinyl ester levels and reduced levels of the visual pigment 11-cis-retinal. Morpholino knockdown of both stra6 and rbp4 alleviates the developmental impairment that is observed in stra6 morphants, suggesting the phenotype is due to impaired vitamin A homeostasis and excessive accumulation of retinoic acid
Sensitive to hydrogen peroxide. Unable to filament and thus, escape from murine macrophages after phagocytosis. Also displays defective virulence in the Galleria mellonella infection model
A strain lacking this gene does not induce most genes of the dormancy regulon, due to polar effects on the downstream devR (dosR) gene (PubMed:11416222). Restoration of induction only occurs when both this gene and devR (dosR) are transformed into the deleted strain
48% reduction in total glucosinolate levels in seeds. Gtr1 and gtr2 double mutant has no detectable glucosinolate in seeds
Reduced intraradical colonization by arbuscular mycorrhiza (AM)-fungi (e.g. Glomus versiforme) upon symbiosis in roots
Malformed leaves with an altered vascular arrangement and abnormal internal structure. Aberrant SAM with reduced OSH1 gene expression
Morpholino knockdown results in inhibition of neural crest cell migration and reduced expression of N-cadherin
Natural transformation rate of the mutant is reduced by 3.3-9.5 folds. Mutation does not affect chemical transformation
Disruption of the gene abolishes the generation of ribose 1,5-bisphosphate
RNAi-mediated knockdown causes the formation of an everted vulva in the L4 stage, with the subsequent rupture of the animal during the L4-to-adult molt (PubMed:10993680). Loss of rfl-1 nuclear localization in a 1- to 2-cell embryonic stages (PubMed:19528325)
Mice are viable, and show overgrowth of placentas with expansion of the spongiotrophoblast. These larger placentas do not confer a fetal growth advantage
Show defects in the lysosome-related organelles (LRO) biogenesis, mimicking mildly the human Hermansky-Pudlak syndrome (HPS)
Phosphorylation of 'Ser-2' of the RNA polymerase II C-terminal domain is undetectable in primordial germ cells and reduced by 60% in embryonic somatic nuclei. RNAi treatment causes sterility
Loss of crRNA processing (PubMed:21519197), no chromosomal targeting (PubMed:23637624)
Increased number of tillers and reduced plant height
Mutants show no change in virulence in mouse model of infection
Disruption of the gene severely affects growth in chitin-containig media and leads to an almost complete loss of chitin-dependent hydrogen production
Bushy phenotype (PubMed:24112720). Abnormal cuticle and pollen grain shapes, reduced levels of wax and cutin monomers, unusual lipidic cytoplasmatic inclusions in epidermal cells, inter-organ postgenital fusions, and altered morphology of trichomes and pavement cells (PubMed:24112720, PubMed:20035035). Altered petal and silique morphology, fusion of seeds, and changes in levels of cutin monomers in flowers and siliques associated with the suppression of the expression of a large number of cuticle-associated genes (PubMed:20035035). Altered root suberin composition, as well as root expression of suberin biosynthetic genes (PubMed:20035035). Highly susceptibility to salt and reduced root branching. Excess in sterol (e.g. campesterol) composition (PubMed:24112720). Vascular patterning defects in cotyledons and the floral stem, with a stronger phenotype in plant missing also ABCG9 and ABCG14 (PubMed:24112720). Both single and double mutants abcg11 abcg12 exhibit ABCG12-containing membrane inclusions protruded into the vacuole and contiguous with the endoplasmic reticulum (PubMed:20870961)
Atp8a2 and Atp8a1 double mutant mice die soon after birth
No aerobic growth on ethanolamine (EA) supplemented with cobalamin (vitamin B12) (PubMed:10464203, PubMed:2656649). A non-polar deletion mutant does not grow on EA between pH 5.5 and pH 8.5 (PubMed:16585748). A deletion allows growth on acetate, suggesting BMC assembly or maintenance is impaired (PubMed:23585538)
Mice exhibit pronounced postnatal renal cyst formation and renal failure. Significant increases in expression of canonical Wnt pathway genes and mediators of Hedgehog and tissue fibrosis seen in highly cystic, but not precystic kidneys. Disrupted cilia assembly in postnatal day 5 (P5) kidneys (PubMed:22282595). Mice exhibit cone cell degeneration and opsin accumulation in the plasma membrane of the inner segments of photoreceptor cells (PubMed:24619649)
No visible phenotype under normal growth condition. In case of infection, plants loose R gene resistance mediated by RPM1, RPS2, RPS5. Plants overexpressing NDR1 show enhanced resistance against the virulent strain of the bacterial pathogen Pst DC3000
Mice with maternal deficiency display autism spectrum disorders, characterized by motor dysfunction, inducible seizures and a context-dependent learning deficit (PubMed:9808466, PubMed:11895368). Long-term potentiation (LTP) is severely impaired despite normal baseline synaptic transmission and neuroanatomy (PubMed:9808466). The cytoplasmic abundance of p53/TP53 is increased in postmitotic neurons (PubMed:9808466). Accumulation of ARC protein in neurons, resulting in the excessive internalization of AMPA receptors (AMPARs) at synapses and impaired synaptic function (PubMed:20211139)
RNAi-mediated knockdown increases susceptibility to Gram-negative bacterium P.aeruginosa in wild-type and in a daf-2 mutant background (PubMed:16916933). Abolishes both median and maximum lifespan extension caused by starvation (PubMed:18331616). Fails to prevent paralysis due to proteotoxicity under starvation conditions (PubMed:18331616). Prevents the heat shock-induced increase in lgg-1/Atg8 punctae in body-wall muscles, nerve ring neurons and proximal intestinal cells (PubMed:28198373). Accelerates death upon exposure to the Gram-negative bacterium P.aeruginosa PA14 (PubMed:29042483)
Significant increase in the ability to colonize the small intestine compared to the wild-type strain. No defect in biofilm formation. Enforced DncV expression in mutant cells lacking this gene causes an enhanced inhibition of chemotaxis. The double mutant lacking both VC_A0681 and VC_A0210 shows enhanced bacterial infectivity, and the triple one (VC_A0681, VC_A0210 and VC_A0931) has the highest infectivity, which demonstrates that V-cGAPs play non-redundant roles in cGAMP degradation
Dwarf and sterile plants with decreased apical dominance. Branched inflorescences due to ectopic initiation of lateral inflorescences instead of flowers. Altered polar growth of root hairs and stigmatic papillae. Reduced cell expansion and aberrant xylem development. Aberrant deposition of xylem secondary cell wall (SCW) (PubMed:27801942)
Deletion mutants contain lower cytoplasmic copper levels compared to the wild-type strain when exposed to copper
Results in defective assembly of nuclear mRNPs
Knockouts in the bloodstream form have an initial slower growth rate in vitro which reaches wild-type levels after several weeks of culture (PubMed:21949125). Knockouts in the bloodstream form have a reduced growth rate and virulence in infected mice (PubMed:21949125). RNAi-mediated knockdown at the bloodstream stage results in a more severe phenotype characterized by a growth arrest due to a failure to undergo cytokinesis (PubMed:21949125)
Causes arginine auxotrophy
Deletion mutant together with deletion of its cognate immunity protein Tsi4 leads to a significant loss of fitness advantage when placed in competition with parental strains
Flies exhibit a specific and marked size reduction of the optic lobes and central brain hemispheres but no major alteration in neuronal architecture can be found
Mice show ectopic calcification of articular cartilage, the joint capsule and certain tendons (PubMed:25260930). Mice also display calcification of the joints and vertebrae as well as soft tissues including the whisker follicles, ear pinna and trachea (PubMed:25260930). This calcification worsened as the animals aged (PubMed:25260930). Bone mineralization in mice lacking both Enpp1 and Alpl is essentially normal, demonstrating that Enpp1 and Alpl are antagonist key regulators of bone mineralization by determining the normal steady-state levels of diphosphate (PPi) (PubMed:12082181)
RNAi-mediated knockdown results in abnormal bristle morphology. The bristle ridges are shallower than wild-type and become nonparallel and disorganized near the tip. The tip of the bristle is swollen giving it a javelin-like appearance. In 13% of animals the posterior scutellar bristles are fused
Knockout animals have B-cell developmental defects affecting multiple stages of development likely due to transcriptional defects. These mutant mice have altered splenic follicle structure with reduce marginal zone and follicular B-cell zones; immunophenotyping show decreased B- cells at all stages of development. Mutant mice fail to mount an antibody response to vaccination and B-cells fail to proliferate in response to stimulation, indicating deficits in B-cell function
Inactivation leads to growth thermo-sensitivity and reduce the efficiency of secretion of the recombinant protein produced, although the protein produced is completely stabilized. Cells lacking this gene show an alteration of surface properties
Impairs production of beauvericin and attenuates virulence during infection of tomato plants (PubMed:19161356, PubMed:23106229)
Severely reduced growth of microtubule-based dendritic branches and elevated levels of microtubule-severing protein spas (PubMed:21368042). Gradual conversion of multipolar neurons into the bipolar or unipolar morphology (PubMed:26490864)
Larval lethal. Mutant larvae develop melanotic tumors
Mutant mice are born in expected Mendelian ratios and exhibit no apparent phenotype. Mutant embryonic fibroblasts show an increased oncogenic transformation capacity
Altered morphology of type VI glandular trichomes (PubMed:30518626). Strong reduction of volatile terpene synthesis in trichomes (PubMed:30518626). Strong reduction of the expression of terpene synthase genes in trichomes (PubMed:30518626)
No visible phenotype under normal growth conditions, but mutant plant display enhanced susceptibility to the bacterial pathogen Pseudomonas syringae pv. tomato DC3000 (Pst DC3000)
No visible phenotype (PubMed:24036508). Short-root-hair phenotype (PubMed:25944827). Hpat1 hpat2 double mutants have longer hypocotyls, are early flowering and show early senescence in leaves associated with a decrease in chlorophyll content (PubMed:24036508). Hpat1 hpat2 hpat3 triple mutants fail to produce detectable levels of Hyp-arabinosides, have low fertility and shorter pollen tubes (PubMed:26577059)
Death prior to E7.5 due to major defects in nuclear organization
Greatly increased sensitivity to UV light, mitomycin C, slightly less sensitive to nitrosative and oxidative stress; a double uvrA/uvrD1 mutant is even more sensitive. Single uvrA mutant is only slightly attenuated in mouse infection, the double uvrA/uvrD1 mutant is strongly attenuated at all stages of infection
Mice have defects in autophagosome formation. Have normal bleeding time but are resistant to thrombosis after arterial injury. Mice fail to induce tumors in a model of prostate tumor formation induced by Pten loss
No visible phenotype, but slightly smaller when grown in short days conditions. 70% and 85% reduction in scopoletin and scopolin levels respectively in the roots. Reduction in global lignin content and in hydroxycinnamic acid amides content in pollen
Both RNAi-mediated knockdown of isoform a and of isoform b decreases egg laying triggered by serotonin treatment (PubMed:18337465). Causes no visible defects in unc-89 and cpna-1 localization in body wall muscles (PubMed:19244614, PubMed:23283987)
Leaf-variegated. Mutations can be complemented by overexpression of FTSH8. The presence of both FTSH1 or FTSH5 (subunit type A) and FTSH2 or FTSH8 (subunit type B) is essential for an active complex formation
Normal and fertile plants with pollen having normal reticulate exine patterning but completely lacking apertures
Cells lacking this gene are as virulent as wild-type in mice, however also show a profound impact on intracellular and capsular glucan (PubMed:20305657, PubMed:27513637). It is not possible to inactivate Rv3032 in a mutant lacking treS, suggesting the joint essentiality of the different alpha-(1->4)-glucans biosynthesis pathways involving these two genes (PubMed:20305657). Combined inactivation of glgM and treS results in absence of alpha-glucan (PubMed:27513637). Combined inactivation of treS and glgC results in absence of alpha-glucan content and is significantly attenuated for growth in the lung and spleen of BALB/C mice during both the acute and chronic phase of infection (PubMed:27513637)
Reduced sensitivity to auxin (e.g. 2,4-D and NPA) and brassinosteroids (BRs) associated with altered vein pattern in foliar organs (PubMed:19000166). Decreased vacuolar sugar import associated with reduced fresh weight when grown on high glucose containing medium or in response to cold stress (PubMed:21838775). Altered intracellular sugar compartmentation due to altered regulation of MSSP1/TMT1 (PubMed:21838775)
Loss of resistance to phage phiM1 and phiA2
Complete embryonic lethality, with most embryos surviving up to about 16.5 dpc (PubMed:9568711, PubMed:10615132, PubMed:12062060). Embryos lacking Pkd2 develop normally up to 13.5 dpc, but after that about half of them display total body edema and focal hemorrhages (PubMed:10615132). Mutant embryos display defects in left-right laterality, including abnormal heart looping (PubMed:12062060). After 13.5 dpc, all embryos display defects in heart development, with defective formation of the interventricular septum (PubMed:10615132, PubMed:12062060). Besides, many display defective formation of the atrial septum and pericardial effusions (PubMed:10615132). After 14.5 dpc, the embryos display progressive cystic dilatation of pancreatic ducts (PubMed:10615132). After 15.5 dpc, they display progressive kidney cyst formation (PubMed:10615132). In contrast, liver development is normal, without any cyst formation (PubMed:10615132). Heterozygous mice with one null allele and one instable allele that leads to somatic loss of Pkd2 expression due to intragenic recombination all display bilateral renal cysts at an age of about 11 weeks (PubMed:9568711). These cysts cover 25-75% of the cut surface area of each kidney (PubMed:9568711). Progressive cyst formation leads eventually to renal failure and shortened lifespan (PubMed:10615132). Besides, these mice all display liver cysts and half of them display also bile duct proliferation (PubMed:9568711). About half of the heterozygous mice with one null allele and one instable allele that leads to somatic loss of Pkd2 expression due to intragenic recombination display visible pancreas cysts at an age of three months (PubMed:10615132). Mice homozygous for an instable allele that leads to somatic loss of Pkd2 expression due to intragenic recombination develop renal cysts that arise from cells that have lost Pkd2 expression (PubMed:9568711). Heterozygous mice that bear one null allele also have a reduced lifespan, but this is not due to kidney failure (PubMed:10615132)
Compromised nonhost resistance (NHR) to the nonadapted fungal pathogens Phakopsora pachyrhizi and Blumeria graminis f.sp. hordei
7.2-fold drop in transformation efficiency with M.AluI-methylated DNA
Worms show defects in embryogenesis. Mutant embryos show defects in their polarity and cleavage patterns which disrupt hatching (PubMed:9716526). RNAi-mediated knockdown causes a complete loss of nlp-29 expression following fungal infection by D.coniospora or physical injury (PubMed:19380113)
Mutant mice develop glucosuria associated with increased food and fluid intake
The mutant bacteria is unable to grow on GRA (PubMed:26319878). Only 25% of the resorcinol is degraded compared to wild-type (PubMed:26319878)
Decreased salt and abscisic acid (ABA) sensitivity
Worms display defects in ciliary structure resulting in defects in ability and osmotic avoidance behavior. It also affects the localization of IFT complex B proteins, osm-5 and osm-6. Shortened axonemes of all classes of sensory cilia in the head. Required for mating
Increased tendency for freezing-induced cellular damage. Reduced cutin accumulation due to lower cutin biosynthesis. Early flowering in long-day conditions
Increased accumulation of methylthiobutyl, -pentyl and -heptyl glucosinolates in leaves. No effects in seeds
Mutants show defects in homologous recombination, swarming motility and cell division
Cells are non-motile. Cells lacking both flgA1 and flgA2 show defects in motility, whitout affecting surface adhesion ability
Deletion of the gene inhibits Fe(3+) oxide reduction, but does not impact reduction of fumarate or Fe(3+) citrate. Deletion negatively impacts the expression of omcT
Leads to early embryonic lethality in vivo and defective cis-prenyltransferase activity and cholesterol levels in isolated fibroblasts
Mutants are unable to secrete TseL
Deletion, when combined with a conditional mutation in clathrin heavy chain or deletion of GGA genes, accentuates growth defects and increases disruption of clathrin-dependent alpha-factor maturation and transport of carboxypeptidase Y to the vacuole. Causes mislocalization of AP-1, especially in cells at high density (postdiauxic shift), but doesn't affect GGA protein distribution. Sensitive to diltiazem-HCl and hypersensitive to chlorpromazine
Leads to defective conidiophore morphology and impairs conidia production (PubMed:25550299). Affects cell wall beta-1,3-glucan biosynthesis (PubMed:25359270)
Leads to a significantly hampered growth when cellulose is used as the sole carbon source (PubMed:26481618). Decreases strongly sporulation and down-regulates of cellulase-coding genes (PubMed:26481618)
No visible phenotype under normal growth conditions, but mutant plants display a sugar-resistant seedling development phenotype
Strains missing this gene make normal amounts of hydrogenase and urease; addition of Ni(2+) to cell cultures caused a reduction in the amount of the enzymes produced
Cells lacking this gene show an increase of biofilm formation
Mice display normal cold sensitivity and unimpaired auditory function, suggesting that this channel is not required for the initial detection of noxious cold or sound. However, they exhibit pronounced deficits in bradykinin-evoked nociceptor excitation and pain hypersensitivity
Leads to the loss of T-Toxin production, resulting in low virulence for maize (PubMed:20192833)
Decreased bacterial resistance to hydrogen peroxide and accelerated bacterial killing of macrophages, increased levels of c-di-GMP (PubMed:15882417). Down-regulation of rdar morphology, 50% reduction in CsgD expression, cellulose and curli fimbriae, increased swimming and swarming. Decrease in c-di-GMP levels (PubMed:19376870)
Defect in apoplastic reactive oxygen species (ROS) production upon stimulation with some immune elicitors such as flg22 and AtPep1, and in response to SCOOP10 and SCOOP12 (PubMed:33514716, PubMed:34535661). Disturbed SCOOP12-triggered BAK1 phosphorylation on Ser-612 (PubMed:33514716). Insensitivity to SCOOP peptides including SCOOP4, SCOOP6, SCOOP8, SCOOP10, SCOOP12, SCOOP13, SCOOP14, SCOOP15, SCOOP20 and SCOOP23 leading to the loss of modified gene expression of several genes (PubMed:34535661). Altered activation of MAPK (e.g. MPK3, MPK4 and MPK6) and root meristems distortion triggered by SCOOP10 and SCOOP12 (PubMed:34535661). Reduced sensitivity to proteinous elicitors containing SCOOP-like sequences (SCOOPL) with SxS motifs isolated from several Fusarium spp, thus leading to reduced SCOOPL-induced growth inhibition, ROS production, calcium Ca(2+) influx, MAPK activation and MYB51 promoter activation in roots, hallmarks of defense responses (PubMed:34535661). Decreased resistance against the generalist herbivore Spodoptera littoralis, but not toward the specialist herbivore Pieris brassicae, and associated with reduced accumulation of jasmonic acid (JA), jasmonate-isoleucine and indolic glucosinolates due to a lower expression of several genes (e.g. CYP79B2, CYP79B3, CYP83B1 and GSTF9) (PubMed:35401621)
Mice are healthy but males are infertile; spermatozoa are morphologically abnormal, most lacked tails and malformed heads. The lumina of the seminiferous tubules are filled with cells in different stages of spermatogenesis and are sometimes necrotic. The cytoplasm of Sertoli cells contained vacuoles and appeared necrotic. The Sertoli cell barrier appeared disrupted
Small plants with white leaves that do not contain chlorophyll. Mutant plants are unable to grow autotrophically on soil and flowers are sterile
Show a strong cytoskeletal phenotype. mgp1-/mgp2- cells have a severe fruiting defect, an overabundance of filopodia and slug motility and function are affected. They empty their contractile vacuoles less efficiently than normal and consequently they have three times the usual number
Mice lacking Abcg2 are born at the expected Mendelian ratio and do not display overt phenotype (PubMed:12429862). However, under specific housing conditions, they show phototoxic skin lesions induced by pheophorbide a, a porphyrin catabolite of chlorophyll found in their diet, that accumulates in mice plasma (PubMed:12429862). They also accumulate a red substance in their bile and display protoporphyria with an accumulation of protoporphyrin IX (PPIX) in erythrocytes (PubMed:12429862). Mice lacking Abcg2 present decreased elimination of some uremic toxins like indoxyl sulfate leading to their accumulation in plasma (PubMed:30042379). They also show reduced survival rate upon adenine-induced chronic kidney disease (PubMed:30042379)
RNAi-mediated knockdown results in embryonic lethality in 5-8% of animals (PubMed:28182654). Surviving animals have enlarged P-granules in the germline (PubMed:28182654)
Males are sterile due to a loss of sperm flagella. In mice obesity is associated with hyperleptinemia and resistance to the anorectic and weight-reducing effects of leptin. Although mice are resistant to the metabolic actions of leptin, animals remain responsive to the effects of leptin on renal sympathetic nerve activity and arterial pressure and developed hypertension. BBS mice have decreased hypothalamic expression of proopiomelanocortin (POMC). BBS genes play an important role in maintaining leptin sensitivity in POMC neurons
Mutant mice generated by CRISPR-Cas9-mediated gene editing display an early neurodegeneration of the cerebellum and a more protracted timewise degeneration of structures within the cerebrum. In both the cerebellum and cerebrum, lysosome deficiency is an early pathogenic event, preceding autophagic dysfunction. In aged rat SLC9A6-null brain show deposition of amyloid-beta and tau
Abolishes the production of ditryptophenaline but leads to the accumulation of cyclo-N-methylphenylalanyltryptophenyl (PubMed:24677498)
Worms display defects in ciliary structure resulting in defects in ability and osmotic avoidance behavior
Cells lacking this gene grow significantly and reproducibly faster than the wild-type strain on glucose as carbon source. They are able to transport maltose and grow in maltose-containing medium, although at significantly slower rate than the wild-type strain. They seem to accumulate primarily maltose 6'-P when exposed to a maltose-containing growth medium
Does not affect male germline stem cells maintenance (PubMed:34644293). In the germline, RNAi-mediated knockdown of Rtel1 in lok mutant background results in partial rescue of single Rtel1 knockdown phenotype which includes loss of germline stem cell and reduced levels of Stat92E expression (PubMed:34644293)
Loss of production of ergothioneine (ERG), no alteration in ratio of oxidized versus reduced mycothiol (MSH), 25-fold increase in reactive oxygen species-producing cells, decreased resistance to compounds that cause oxidative stress, decreased resistance to the antibiotics rifampicin, isoniazid, bedaquiline and clofazimine (PubMed:26774486). Increased oxygen consumption and extracellular acidification rates, which are further increased by membrane uncoupler CCCP, indicative of electron chain dysfunction in the absence of ERG (PubMed:26774486). Absence leads to alteration of transcript levels for 68 genes which probably compensate for loss of redox control (PubMed:26774486). Decreased bacterial survival in mouse macrophage cell line, 10,000-fold decreased bacterial burden in infected mice lungs (strain BALB/c), no alteration in mouse lung ERG levels (PubMed:26774486)
Embryo lethality, when homozygous
Mice survive until birth but are cyanotic and die neonatally in a condition resembling respiratory distress syndrome. In addition, a minor proportion of mice embryos die during the embryonic period. Mutant mice display cerebral hypoplasia and craniofacial defects, disturbed Ca(2+) kinetics in myotubes. They also display deficiencies L-selectin and chemokine-mediated neutrophil trafficking during inflammatory responses
Exhibits insensitivity to abscisic acid (ABA) and salt
The double mutant clf-50 swn-1 is hypersensitive to abscisic acid (ABA) associated with reduced ABA-responsive genes repression by histone H3 'Lys-27' methylation (H3K27me3)
Mice (reeler, weaver and staggerer) show defects in granule cell migration and parallel fiber formation, synaptogenesis, Purkinje cell dendritic maturation and establishment of adult cytoarchitecture show a correlation between the formation and number of parallel fiber-Purkinje cell synapses and cerebellin levels (PubMed:3199194). CBLN1 single knockout mice show a major impairment in motor behaviors (PubMed:3420533). Double CBLN1 and CBLN2 knockout mice exhibit gait abnormalities, impairments in balance and coordination and develop seizures (PubMed:3420533). Synapse density in the hippocampus is normal in 1-2 months old mice, but severely decreased in 6 month old mice (PubMed:3420533). Triple CBLN1, CBLN2 and CBLN4 knockout mice exhibit impairments in sensory processing and sensorimotor gating, in addition to severe motor deficits, seizures and reduced synapse density in the hippocampus of aging mice (PubMed:3420533)
(Microbial infection) Truncated protein associated with pvr6 resistance allele, correlates with resistance to pepper veinal mottle virus (PVMV), especially when associated with the pvr2(2) allele of eIF4E
Defects in cilium morphology and mislocalization of intraflagellar transport proteins. Specifically, phasmid cilia are shorter compared to wild-type, ciliary IFT A complex proteins such as che-11, osm-5 are mislocalized, and the transport and accumulation of the ciliary IFT B complex protein che-13 is impaired. Mutants also display a strong osmosensory (osm) phenotype with an aversion to high osmolarity, and they exhibit impaired chemotaxis in response to volatile odorants such as pyrazine and iso-amyl alcohol
Disruption of the gene results in the reduction of aprE expression
Mice show a significant reduction in daytime contrast sensitivity
Results in the production of only two cytokinins, isopentenylaldehyde and 8-oxo-isopentenyladenine (PubMed:28802024)
cells lacking this gene show a slight residual isocitrate lyase activity
Grows slowly with cystine as sole sulfur source
Mutants do not produce monounsaturated fatty acids, exhibit reduced glycolytic capability and altered glucose-PTS activity, and are extremely sensitive to low pH
Deletion leads to a decreased urease activity to one-third of the level of the wild type (PubMed:22865848). Displays also an exacerbated stress response that results in enhanced and accelerated biofilm formation (PubMed:27432830)
Conditional knockdown targeted mainly to lung mesenchyme causes lung hypoplasia at 18.5 dpc (PubMed:27720610). Conditional knockdown targeted mainly to the otic epithelium disrupts inner ear morphogenesis, which is exacerbated by simultaneous conditional knockdown of TBX2 (PubMed:33795231). Simultaneous conditional knockdown of TBX2 and TBX3 targeted mainly to lung mesenchyme causes severe bleeding from 10.5 dpc and embryos die shortly thereafter, perhaps as a result of knockdown in the developing heart (PubMed:27720610)
Abolishes the production of ergosterol and accumulates ergosta-5,7,22,24(28)-tetraenol (PubMed:8125337, PubMed:18310029). Leads to susceptibility to cycloheximide and to staurosporine, but does not affect tolerance to nystatin and to amphotericin B (PubMed:18310029). Leads to cold-sensitivity, a supersensitivity to divalent cations and several unrelated drugs including staurosporine, caffeine, chloramphenicol, sorbitol, and SDS (PubMed:1320960, PubMed:18310029). Does not lead to a sensitivity to nystatin, amphotericin B, thiabendazole or hydroxyurea (PubMed:1320960, PubMed:18310029)
Disruption of the gene does not affect growth on D-ribose and D-ribulose as a carbon source but decreases growth with D-apiose
Normal growth rate, cellular morphology and efficiency of conidial formation when grown on easily metabolizable carbon sources YG (complex) or MM-glucose (complete) media. Grows poorly on a medium with chitobiose as a sole carbon source. Low level of beta-N-acetylglucosaminidase activity
Mice show defects in commissural axon guidance in spinal cord including midline recrossing and an altered lateral and ventral funiculi projection. The phenotype resembles that of a SLIT1;SLIT2;SLIT3 triple mutant. They also mimick a naturally occurring human homozygous deletion mutant detected in a small lung cancer cell line, frequently die at birth by respiratory failure with accompanying abnormal lung histology. Surviving mice develop bronchial hyperplasia
No visible phenotype when deleted singly or as the relBE1 operon
Embryonic lethality with increased frequency of embryonic head defects and reduced embryonic cell death
Leads only to slight reduction of virulence (PubMed:24280385, PubMed:26487566). Severely affects growth and displays an altered morphology, when the calnexin DNJ1 is also deleted (PubMed:26487566)
Mice are viable and fertile and do not display gross skeletal abnormalities. Fluid-electrolyte balance and blood pressure remain normal although an increased rate of focal fibrotic lesions is observed within the cardiac ventricles
Mice show severe motor and respiration deficits at birth and die during the first postnatal day (PubMed:14622582). Accumulation of glycine in the synaptic cleft results in over-activation of postsynaptic glycine receptors and death of the newborn animals due to respiratory and feeding problem (PubMed:14622582)
Null mice exhibit cognitive abnormalities including schizophrenia-related behaviors such as impaired working memory under stressful conditions. There is higher acoustic startle reactivity to stimuli. Pyramidal neurons are hypoexcitable on dopamine-2 receptor stimulation. There is reduced expression of Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) and CaMKKbeta in the medial prefrontal cortex mPFC. There is increased expression levels of cell surface dopamine receptor D2 in cortical neurons. Expression levels of SYN1 are lower in both cortex and in the hippocampal formation (HF)
The disruption of this gene causes 14-fold increase in the frequency of spontaneous mutation compared to the wild type
Altered cauline leaf shape, abnormal stem development and architecture, including enhanced branching, decreased inflorescence branch angles, and shorter stem and internode lengths. Reduced stems elongation after bolting
Dwarf, narrow leaf, lesion mimic, low tillering, altered kernel color, viviparous and low fertility phenotypes
A single enc deletion survives less well after 3 days in 2.5 mM H2O2, pH 4.5 (mimics growth in the phagolysosome). A double dyp-enc deletion mutant cannot produce encapsulin nanocompartments, cells are highly sensitive to H2O2 at pH 4.5, mutants exhibit significant dysregulation of redox homeostasis, survive less well in C57BL/6 mouse-derived bone marrow cells and are more sensitive to pyrazinamide treatment in infected BALB/C mice
Disruption increases the spontaneous mutation rate
Mutant male mice are sterile and spermatocytes exhibit DNA damage, crossover defects, and chromatin condensation abnormalities
Dwarf plants, reduced starch accumulation, lower Lhcb1, Lhcb4, and RBCL protein levels (but normal corresponding transcripts expression), and delayed flowering, particularly in low fluence light conditions (PubMed:33806011). Suppressed expression of caseinolytic protease (Clp) and chloroplast heat shock proteins (CpHSPs), essential components of the chloroplast protein quality control (CPQC) (PubMed:33806011). Increased oil and anthocyanin content in mature seeds, but less mucilage accumulation in the seed coat (PubMed:32354877). Lower anthocyanin levels in cold-exposed seedlings (PubMed:27047496). Impaired N-alpha-acetylation (NTA) and epsilon-lysine acetylation (KA) activities toward several plastid proteins (PubMed:32633465). High susceptibility to high light (HL) stress as a result of devoid melatonin induction (PubMed:29770489). Decreased Lys acetylation status of specific photosynthetic proteins including PSI, PSII and LHCII subunits asssociated with their abnormal localization within the thylakoid network; LHCII antenna remaining largely in grana stacks and phosphorylated Lhcb2 associating to LHCII trimer pools (PubMed:29967049, PubMed:35792507). Absence of acetylated KEA1 and KEA2 proteins (PubMed:31865509, PubMed:29967049). Defective in state transitions of photosynthetic reaction centers photosystem II (PSII) and photosystem I (PSI) leading to an impaired accumulation of the PSI-LHCII state transition complex (PubMed:29967049, PubMed:35792507). Increased sensitivity to osmotic stress due to an altered osmotic stress-induced melatonin accumulation (PubMed:33924609). Altered circadian dynamics of stomatal aperture (PubMed:32064655). Reduced stomatal closure in response to hydrogen sulfide H(2)S and PEG (PubMed:34812898). Promoted seed germination (PubMed:33811388). Increased susceptibility to Botrytis cinerea (PubMed:34234798)
Hatch rate of embryos is less than one percent. Nuclear morphology of embryos is normal until the 10th nuclear cycle when the shape and size of nuclei becomes abnormal and surface nuclei also begin to exhibit an irregular distribution. The phosphorylation of Cdk1 at the mid-blastula transition (between 2 to 4 hours after egg deposition) is also severely delayed. Increased sensitivity to HU with reduced survival rates. In the eye disks from mutant third stage larvae treated with HU, there is a higher percentage of mitotic cells compared to untreated mutant larvae. Is insensitive to ionizing radiation; the percentage of mitotic cells is unaffected in the eye disks of larvae treated with IR, and IR-induced apoptosis in larvae also appears to be unaffected
No visible phenotype; even in asd1 and asd2 double mutant
Cells lacking this gene show a white phenotype and produce 4-hydroxy-2,2'-bipyrrole-5-carbaldehyde (HBC), 4- methoxy-2,2'-bipyrrole-5-carbaldehyde (MBC) and a dihydro form of MAP (H2MAP)
No visible phenotype under normal growth conditions, but seedlings show increased sensitivity to oryzalin, a microtubule-destabilizing agent. conditions
Disruption mutant still produces nocardicin A at levels near that seen for wild-type strain
Not essential for growth in the absence of DNA damage. Increased sensitivity to ionizing radiation in log, stationary and late stationary phase. Decreased efficiency of NHEJ on blunt, 5' overhang and 3' overhanging DSB, fidelity the same as for wild-type NHEJ
Cells lacking this gene show a markedly delayed growth with a slight hint of increase after 15 hours using N-acetylcadaverine as sole carbon source, and display an elongated lag-phase of approximately 6 hours before growing on N-acetylputrescine. The deletion mutant strain exhibits only marginal changes in biofilm biomass in comparison to the wild-type
Abolishes the pathogenicity
No synthesis of chlorophyll f when grown in FRL (PubMed:27386923), decreased accumulation of some proteins up-regulated during FRL photoacclimation (FaRLiP)
RNAi knockdown results in embryonic lethality. The few surviving larvae have sluggish movements, abnormal body morphology, developmental arrest and impaired survival
Mice show deficits in several forms of long-term memory formation including spatial and fear-related learning, conditioned taste aversion as well as long-term object recognition (PubMed:17088210). They show enhanced early-phase but impaired late-phase long-term potentiation (LTP) as well as impaired long-term depression (LTD). Neurons lacking Arc show an increase in surface levels of AMPA receptors (PubMed:17088210). In the visual cortex, mice are impervious to the effects of deprivation or experience: mice do not exhibit depression of deprived-eye responses or a shift in ocular dominance after brief monocular deprivation (PubMed:20228806). Although mice exhibit normal visual acuity, baseline ocular dominance is abnormal and resemble that observed after dark-rearing (PubMed:20228806). Mice also show schizophrenia-related phenotypes characterized by deficits in sensorimotor gating, cognitive functions, social behaviors and amphetamine-induced psychomotor responses (PubMed:27524619). Divergent alterations between the prefrontal cortex and striatal dopaminergic system that capture aspects of schizophrenia-related neuropathophysiology are observed (PubMed:27524619). Knockout mice show a relative loss of high-frequency electroencephalogram activity in hippocampus, as well as a decrease in phase locking of spikes to electroencephalogram oscillations (PubMed:27038743)
Increases the sensitivity to farnesol
Impairs aflavarin biosynthesis and leads to a reduction of sclerotial production (PubMed:26209694)
Strongly affects mating efficiency
Morpholino knockdown of the protein results in neurodegeneration in the central nervous system (CNS) (PubMed:25875846). Neurodegeneration is characterized by severe visible malformations in the developing CNS in regions that correspond to the midbrain-hindbrain boundary, the cerebellum and the hindbrain region (PubMed:25875846)
Mutant etiolated seedlings display insensitivite ethylene-response in roots and coleoptiles. Mature mutant plants have reduced shoot length, increased number of panicles and reduced grain yield
RNAi-mediated knockdown abrogates an increase in hydrogen-sulfide production in an mTORC2 subunit rict-1 mutant background
Mice are long-lived and fertile. They display strain-specific circling behavior, are hyperactive and exhibit rapid head bobbing and twirled excessively when picked-up by the tail. This is probably due to abnormal vestibular function
RNAi-mediated knockdown results in embryos that undergo early mitotic divisions as in wild-type, but which later then display aberrant patterns of nuclei and arrest before morphogenesis (PubMed:15452142). RNAi-mediated knockdown results in chromosome segregation defects in mitotic embryos whereby chromosomes form a disordered metaphase plate and multiple chromosomes exhibit delays in segregation resulting in the formation of bridges during anaphase (PubMed:15452142). The chromosome bridges stretch, break and sometimes form micronuclei (PubMed:15452142). RNAi-mediated knockdown results in kinetochore orientation defects in anaphase spindles in embryos in which kinetochores do not align on the spindle and some kinetochores stretch across the spindle interzone, parallel to the pole-pole axis (PubMed:15452142). RNAi-mediated knockdown does not cause defects in spindle architecture or cytokinesis in embryos (PubMed:15452142)
Arrested development at the second to third larval stages (L2-L3) and lethality between 5-10 days after hatching (PubMed:27927209). Small and dumpy body morphology at the second to third larval stages (L2-L3), abnormal pharyngeal morphology, sterility (PubMed:27927209). Growth and fertility defects are suppressed in a cebp-1 mutant background (PubMed:27927209). Lethality is suppressed in several mutant backgrounds, including tir-1, or kinases nsy-1, sek-1 or mak-2 (PubMed:27927209). Levels of phosphorylated, active p38/MAPK pmk-1 are significantly increased (PubMed:27927209). Increased levels of cebp-1 mRNA in multiple tissues (PubMed:27927209). RNAi-mediated knockdown results in a loss of nlp-29 expression upon fungal infection (PubMed:18394898). No other obvious phenotype (PubMed:18394898). Knockdown results in a drastic reduction in transcription of gst-4 and gcs-1 mRNAs during infection by P.aeruginosa or P.faecalis, or treatment with the oxidant, arsenite (PubMed:34407394). RNAi-mediated knockdown targeted to intestinal cells causes hypersusceptibility to Gram-negative bacterium P.aeruginosa or to Gram-positive bacterium E.faecalis and also to the P.aeruginosa toxin ToxA (PubMed:27927200, PubMed:34407394). Simultaneous knockdown with vhp-1, targeted to intestinal cells, results in partial rescue of the nipi-3 pathogen sensitivity phenotype (PubMed:34407394)
Alters the localization of KhpB which localizes not only to the midcell but also the old cell poles. No change in localization of MltG
Pupal lethal (PubMed:21441212). RNAi-mediated knockdown in the fat body reduces energy storage of both triglyceride and free glucose, increases waking activity during the day and the night, reduces sleep bout length, with total sleep bout number reduced during the day and increased during the night (PubMed:30249751)
Non-essential, but cells lacking this gene are sensitive to DNA damage induced by treatment with MMC. Does not display increased sensitivity to UV light or to the alkylating agent methyl methanesulphonate (MMS)
Knockout homozygous mice are sterile in both sexes
Reduced heat stress (HS) memory. Premature decline of expression of HSA32, HSP18.2, HSP21, HSP22 and HSP101 after HS in the double mutant plants chr11-1 and chr17-1 (PubMed:27680998). No visible phenotype under normal growth conditions, but the double mutant plants chr11-1 and chr17-1 are very small and display early flowering and sterility (PubMed:22694359)
Sterility and inability to set normal seeds due to severe defects in both male and female gametogenesis
Mutants exhibit a strong dominant effect on achiasmate segregation, inducing both X and fourth chromosome non-disjunction in females (PubMed:14573476). Precocious nuclear envelope breakdown in oocytes, due to defects in meiotic arrest in G2 (PubMed:18052611)
Cells lacking this gene show an expression level of icl higher than wild-type during incubation with glucose while remaining approximately at the same level than wild-type during incubation with acetate. ramB expression levels are found to be higher in the deletion mutant than in the wild-type during incubation with acetate or glucose
Knockout animals show deficient growth, microcephaly, microphthalmia, mandibular hypoplasia and abnormal fins
Early flowering in short-day growth conditions
Greatly reduced nuclear accumulation of lin-56 protein and increased mRNA levels (PubMed:21196525). No obvious vulval development defects (PubMed:8054684, PubMed:11463372). Double knockout with the synthetic multivulva class B protein lin-15B, dpl-1, efl-1 or lin-35 results in a multiple vulva (Muv) phenotype (PubMed:8054684, PubMed:11463372, PubMed:16624904)
Enhanced resistance to powdery mildew with a reduced fungus reproduction
Exhibits an absence of G1 checkpoint in response to linoleic acid hydroperoxide (LoaOOH) treatment. Rescues the temperature sensitivity of CDC13-1 mutant
Cells make aberrantly large polar bodies instead of wild-type carboxysomes, do not grow in normal air but do grow on 4-5% CO(2), called a high-CO(2) requiring phenotype, HCR, no accumulation of CcmK2 (PubMed:8491708, PubMed:22928045, PubMed:24267892). When ccmL-ccmM-ccmN-ccmO are deleted no carboxysomes form, cells are HCR and RuBisCO is soluble (PubMed:8491708)
Down-regulation of ODO1 and numerous structural scent-related genes from both the shikimate and phenylpropanoid pathways (e.g. IGS, EGS, BSMT1, BSMT2, PAL1, PAL2, EPSPS, DAHPS, CS, CM1, ADT1 and PPA-AT) leading to reduced scent production (reduced emission of volatile phenylpropanoids, e.g. benzyl alcohol, benzylbenzoate, methylbenzoate, methylsalicylate, eugenol and isoeugenol)
Hyperphagia, hyperactivity and hypermetabolism leading to protection from diet-induced obesity, and improved glucose homeostasis due to up-regulation of AMPK kinase activity