| Primary Identifier | MGI:1918742 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 71492 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in fat cell differentiation. Acts upstream of or within several processes, including limb development; primary palate development; and smoothened signaling pathway. Located in several cellular components, including cytoskeleton; nucleus; and photoreceptor outer segment. Part of BBSome. Is expressed in several structures, including adrenal gland; central nervous system; eye; ovary; and respiratory system. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Orthologous to human BBS7 (Bardet-Biedl syndrome 7). PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial preweaning lethality, retinal degeneration, obesity, ventriculomegaly, abnormal brain ependyma motile cilium morphology, and male infertility characterized by abnormal sperm flagellar axoneme structures. [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
