Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within several processes, including collagen fibril organization; sensory perception of sound; and skeletal system development. Located in collagen-containing extracellular matrix. Part of collagen trimer. Is expressed in several structures, including connective tissue; hemolymphoid system gland; limb; musculoskeletal system; and sensory organ. Used to study Stickler syndrome; autosomal dominant nonsyndromic deafness 13; and otospondylomegaepiphyseal dysplasia, autosomal recessive. Human ortholog(s) of this gene implicated in cleft palate; nonsyndromic deafness (multiple); and osteochondrodysplasia (multiple). Orthologous to human COL11A2 (collagen type XI alpha 2 chain).
MGI Description
PHENOTYPE: Homozygous mutant animals exhibit reduced body size, short snout, a slightly bulged forehead, deafness, and disorganization of chondrocytes in the growth plate of long bones. [provided by MGI curators]