| Primary Identifier | MGI:2385061 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 225004 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within photoreceptor cell outer segment organization and protein localization to photoreceptor outer segment. Located in cone photoreceptor outer segment and photoreceptor inner segment. Is expressed in eye. Used to study retinitis pigmentosa 54. Human ortholog(s) of this gene implicated in retinitis pigmentosa 54. Orthologous to human PCARE (photoreceptor cilium actin regulator). PHENOTYPE: Mice homozygous for a knock-out allele develop severe early-onset retinal degeneration associated with a disorganized outer segment, progressive thinning of the outer nuclear layer, microglia activation, decreased a- and b-wave amplitudes, and nearly undetectable ERG responses by 8 weeks of age. [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
