| Primary Identifier | MGI:2443764 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 320299 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable several functions, including BBSome binding activity; calmodulin binding activity; and enzyme binding activity. Involved in cilium assembly. Located in photoreceptor connecting cilium and photoreceptor outer segment. Is expressed in heart ventricle; metanephros; retina; and telencephalon ventricular layer. Used to study Leber congenital amaurosis. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Senior-Loken syndrome; nephronophthisis; and retinitis pigmentosa 3. Orthologous to human IQCB1 (IQ motif containing B1). PHENOTYPE: Homozygous null mice show absence of scotopic and photopic responses indicating early blindness, photoreceptor degeneration and impaired outer segment formation. [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
