| Primary Identifier | MGI:1924066 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 76816 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Involved in establishment of cell polarity; regulation of cilium assembly; and tube formation. Acts upstream of or within microtubule organizing center organization and neuron migration. Located in cytoplasm; microtubule organizing center; and photoreceptor cell cilium. Is expressed in brain. Used to study Bardet-Biedl syndrome 16 and nephronophthisis. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 16 and Senior-Loken syndrome. Orthologous to human SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8). PHENOTYPE: Homozygotes for a null allele show postnatal lethality, cleft palate, polydactyly, enlarged lateral ventricles and impaired neuronal migration. Homozygotes for a gene trap allele show late-onset nephronophthisis associated with renal cysts and fibrosis, and retinal degeneration leading to blindness. [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
