| Primary Identifier | MGI:88447 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 12815 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable heparin binding activity. 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 forelimb bud; genitourinary system; hemolymphoid system gland; limb; and musculoskeletal system. 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). 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
