| Primary Identifier | MGI:1914407 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 67157 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in photoreceptor cell morphogenesis. Located in cytoplasm and photoreceptor inner segment. Is expressed in cerebral cortex ventricular layer and cortical plate. Used to study cone-rod dystrophy 16 and retinitis pigmentosa. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 21 and cone-rod dystrophy 16. Orthologous to human CFAP418 (cilia and flagella associated protein 418). PHENOTYPE: Homozygous deletions of this gene lead to defects in photoreceptor outer segment disc morphogenesis and progressive degeneration of retinal rod and cone photoreceptors with notable absence of extra-ocular phenotypes such as obesity or polydactyly. [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
