| Primary Identifier | MGI:88452 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 12824 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables identical protein binding activity. Involved in several processes, including limb bud formation; notochord development; and otic vesicle development. Acts upstream of or within several processes, including collagen fibril organization; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; and skeletal system development. Located in basement membrane; cytoplasm; and extracellular space. Part of collagen type II trimer. Is expressed in several structures, including central nervous system; embryo mesenchyme; limb; sensory organ; and skeleton. Used to study achondrogenesis type II; spondyloepimetaphyseal dysplasia; and spondyloepiphyseal dysplasia congenita. Human ortholog(s) of this gene implicated in Stickler syndrome (multiple); bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Orthologous to human COL2A1 (collagen type II alpha 1 chain). PHENOTYPE: Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. [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
