| Primary Identifier | MGI:1921273 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 74023 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Involved in retina development in camera-type eye and visual perception. Located in nucleus; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in brain and sensory organ. Used to study Leber congenital amaurosis 12. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Leber congenital amaurosis 12; and retinal degeneration. Orthologous to human RD3 (RD3 regulator of GUCY2D). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit retinal degeneration, beginning at 3 weeks of age, characterized by complete loss of photoreceptor rod cells by 5 weeks, and cones by 8 weeks. [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
