| Primary Identifier | MGI:88467 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 12842 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables identical protein binding activity. An extracellular matrix structural constituent. Involved in cellular response to mechanical stimulus and osteoblast differentiation. Acts upstream of or within several processes, including face morphogenesis; intramembranous ossification; and skeletal system morphogenesis. Located in collagen-containing extracellular matrix; cytoplasm; and extracellular space. Part of collagen type I trimer. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart and pericardium; limb; and skeleton. Used to study several diseases, including D-2-hydroxyglutaric aciduria; Diamond-Blackfan anemia; hepatocellular carcinoma; lung cancer (multiple); and osteogenesis imperfecta (multiple). Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Orthologous to human COL1A1 (collagen type I alpha 1 chain). PHENOTYPE: Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection. [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
