| Primary Identifier | MGI:88465 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12839 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable carbohydrate binding activity and protein homodimerization activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within chondrocyte proliferation; growth plate cartilage development; and tissue homeostasis. Predicted to be located in extracellular region. Predicted to be part of collagen type IX trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including genitourinary system; respiratory system; salivary gland primordium; sensory organ; and skeleton. Used to study osteoarthritis. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia. Orthologous to human COL9A1 (collagen type IX alpha 1 chain). PHENOTYPE: Homozygotes for a targeted mutation show no conspicuous skeletal abnormalities at birth but develop early-onset degenerative joint disease resembling osteoarthritis as well as progressive hearing loss; restoration and remodeling of trabecular bone is perturbed with minimal effects on cortical bone. [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
