| Primary Identifier | MGI:88464 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 329941 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within camera-type eye morphogenesis and endothelial cell proliferation. Predicted to be located in basement membrane and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in basement membrane; blood vessel; cornea; genitourinary system; and heart. Used to study Fuchs' endothelial dystrophy. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy and posterior polymorphous corneal dystrophy 2. Orthologous to human COL8A2 (collagen type VIII alpha 2 chain). PHENOTYPE: Mice homozygous for a knock-out allele exhibit a thinner Descemet's membrane of the cornea. Mice heterozygous or homozygous for an ENU-induced mutation exhibit thin cornea, corneal epithelium, stroma, and Descemet membrane, and enlarged anterior chamber. [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
