| Primary Identifier | MGI:97914 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 212541 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 11-cis retinal binding activity; G protein-coupled photoreceptor activity; and spectrin binding activity. Involved in photoreceptor cell maintenance. Acts upstream of or within several processes, including podosome assembly; rod bipolar cell differentiation; and thermotaxis. Located in several cellular components, including rod photoreceptor outer segment; sperm head plasma membrane; and sperm midpiece. Is expressed in several structures, including brain; eye; and heart. Used to study congenital stationary night blindness autosomal dominant 1; retinitis pigmentosa; and retinitis pigmentosa 4. Human ortholog(s) of this gene implicated in congenital stationary night blindness autosomal dominant 1; fundus albipunctatus; night blindness; retinitis pigmentosa; and retinitis pigmentosa 4. Orthologous to human RHO (rhodopsin). PHENOTYPE: Targeted null homozygotes fail to develop retinal rod outer segments and lose their photoreceptors while heterozygotes exhibit some disorganization of their photoreceptors and a shortening of the outer segments with age. Some point mutants have only light-induced photoreceptor degeneration. [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
