| Primary Identifier | MGI:88468 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 12843 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables SMAD binding activity. Acts upstream of or within several processes, including bone mineralization; extracellular matrix assembly; and protein heterotrimerization. Located in collagen-containing extracellular matrix and extracellular space. Part of collagen type I trimer. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and limb. Used to study osteogenesis imperfecta and osteogenesis imperfecta type 3. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome (multiple); heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. Orthologous to human COL1A2 (collagen type I alpha 2 chain). PHENOTYPE: The tails of mice heterozygous for an ENU-induced mutation at this locus are flexible or rubbery. [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
