| Primary Identifier | MGI:2148800 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 114230 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable farnesylated protein binding activity. Acts upstream of or within several processes, including phototransduction, visible light; regulation of opsin-mediated signaling pathway; and retina homeostasis. Located in photoreceptor inner segment. Used to study Leber congenital amaurosis 4. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Leber congenital amaurosis 4; blindness; and retinitis pigmentosa. Orthologous to human AIPL1 (aryl hydrocarbon receptor interacting protein like 1). PHENOTYPE: Homozygous null mice display complete retinal degeneration and a lack of electroretinographic responses. Homozygous hypomorphic mutants display less severe retinal degeneration and impaired electroretinographic 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
