| Primary Identifier | MGI:2144877 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 104871 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in microtubule cytoskeleton organization; photoreceptor cell maintenance; and protein localization to non-motile cilium. Located in photoreceptor distal connecting cilium. Is active in rod photoreceptor outer segment. Is expressed in several structures, including blood vessel; central nervous system; and retina layer. Used to study Leber congenital amaurosis 3. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 3. Orthologous to human SPATA7 (spermatogenesis associated 7). PHENOTYPE: Mice homozygous for a null allele display progressive retinal rod cell degeneration, a thin retinal outer nuclear layer and impaired scotopic responses. [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
