| Primary Identifier | MGI:108084 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 16328 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein domain specific binding activity. Involved in detection of light stimulus involved in visual perception. Located in microtubule organizing center; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and sensory organ. Used to study retinitis pigmentosa. Orthologous to human CEP250 (centrosomal protein 250). PHENOTYPE: Mice homozygous for a single point mutation exhibit decreased total retinal thickness, thin retinal outer nuclear layer, dye leakage from retinal vessels, reduced electroretinogram responses, and retinal photoreceptor degeneration. Mice homozygous for another null allele exhibit male infertility. [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
