| Primary Identifier | MGI:88453 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12825 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables SMAD binding activity. Involved in several processes, including extracellular matrix organization; neurogenesis; and skeletal system development. Acts upstream of or within several processes, including cellular response to amino acid stimulus; collagen fibril organization; and digestive tract development. Located in extracellular matrix. Part of collagen type III trimer. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; heart and pericardium; and integumental system. Used to study systemic scleroderma and vascular type Ehlers-Danlos syndrome. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome; Ehlers-Danlos syndrome hypermobility type; end stage renal disease; and vascular type Ehlers-Danlos syndrome. Orthologous to human COL3A1 (collagen type III alpha 1 chain). PHENOTYPE: Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin. [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
