Mutations in collagen II can cause abnormalities of skeletal development and eye structure. This is a life-threatening and debilitating disease characterized by extreme arterial and capillary fragility.
Death is often due to hemorrhage.
Access More Information V. fetal tissues, placenta, interstitial tissues Appears to be necessary for extracellular matrix assembly in connective tissues. Knockouts of this gene in mice have spinal deformities and poor skin and eye development. This collagen is also a proteoglycan, combining with chondroitin sulfate and dermatan sulfate. It is probably covalently linked to Type II collagen in hyaline cartilage. Mutations can cause epiphyseal dysplasia.