PURPOSE: To determine the genomic organization of the @entity3392 @entity68636 gene and to evaluate if mutations in @entity68636 are responsible for the @entity2000 phenotype in the @entity3392 ( @entity3392 ) mutants niezerka (nie(m743)) and mikre oko (mok(m632)). METHODS: Overlapping fragments were PCR amplified from genomic DNA isolated from homozygous mutant embryos and wild-type siblings (sibs). Amplicons were sequenced and sequence data assembled into contigs. Genomic organization was determined by alignment of contigs with published cDNA sequences and @entity3392 genomic sequence from Sanger and Ensembl databases. Linkage analysis used DNA from mapping panels of single homozygous mutant animals with mixed genetic backgrounds. RESULTS: The analysis indicated that the @entity3392 @entity68636 gene consisted of three exons and 2 introns, and spans 3.8 kb of genomic DNA. The splice junctions were all located within the coding region. Highly repetitive sequences present in non-coding regions of @entity68636 and extended tetra- @entity377 repeats in intronic regions were associated with sequence variation between different strains. Homozygous mok(m632) or nie(m743) mutants and their respective wild-type sibs, showed identical patterns of heterozygosity and sequence variations within each line. No mutation in @entity68636 were identified in homozygous mok(m632) or nie(m743). Consistent with the absence of identified mutations, linkage analysis excluded linkage of the mutant phenotypes to @entity68636 . CONCLUSIONS: Despite the presence of sequence variations in their respective genetic backgrounds, within each line the sequence of @entity68636 was identical. Consistent with the absence of mutations, further analysis excluded linkage of the mutant phenotypes to @entity68636 . Analysis is in progress to map these loci and identify the genes responsible for the @entity2000 phenotype in these mutant lines.

Genomic organization of @entity3392 cone-rod homeobox gene and exclusion as a candidate gene for XXXX in niezerka and mikre oko.

@entity2000 :: ('MESH:D012162', 'Disease') :: ['retinal degeneration'] @entity377 :: ('CHEBI:36976', 'Chemical') :: ['nucleotide'] @entity3392 :: ('7955', 'Species') :: ['zebrafish', 'Danio rerio'] @entity68636 :: ('81881(Tax:7955)', 'Gene') :: ['crx']
@entity2000 :: (MESH:D012162,Disease) :: ['retinal degeneration']
