Collagen Mutant Mouse Models Provide an Important Tool to Study Osteoarthritis

Mutations in the human type II (COL2A1) collagen gene appear to be the basis for many skeletal disorders such as spondyloepiphyseal dysplasia, achondrogenesis, Kniest, and Stickler syndrome.

Several of these conditions include early-onset osteoarthritis in addition to the chondrodysplasia phenotype. Other collagen genes are also involved etiologically in the chondrodysplasias, e.g., an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia (SED) and early-onset osteoarthritis, results from a mutation involving the COL11A2 gene that encodes the α2 (XI) chain of the quantitatively minor fibrillar type XI collagen.

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