| Primary Identifier | MGI:88458 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12832 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables SMAD binding activity. Involved in collagen fibril organization and skin development. Acts upstream of or within cellular response to amino acid stimulus and skeletal system development. Located in collagen-containing extracellular matrix and extracellular space. Part of collagen trimer. Is expressed in several structures, including connective tissue; embryo mesenchyme; genitourinary system; intraembryonic coelom; and musculoskeletal system. Used to study Ehlers-Danlos syndrome classic type 1. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 2. Orthologous to human COL5A2 (collagen type V alpha 2 chain). PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea. [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
