| Primary Identifier | MGI:1923510 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 76260 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in cilium assembly and fat cell differentiation. Acts upstream of or within several processes, including morphogenesis of a polarized epithelium; negative regulation of GTPase activity; and nervous system development. Located in membrane and photoreceptor connecting cilium. Part of BBSome. Is expressed in sensory organ; spermatid; and telencephalon. Used to study Bardet-Biedl syndrome 8. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 8; and retinitis pigmentosa 51. Orthologous to human TTC8 (tetratricopeptide repeat domain 8). PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality with slow postnatal weight gain, age related obesity, impaired olfation, loss of cilia from the olfactory epithelium, impaired targeting of olfactory sensory neuron axons, retinal degeneration, and mild renal tubule dilation. [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
