| Primary Identifier | MGI:2143311 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 102774 |
| 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; cytoskeletal protein binding activity; and protein-macromolecule adaptor activity. Involved in several processes, including fat cell differentiation; negative regulation of appetite by leptin-mediated signaling pathway; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including cilium assembly; nervous system development; and regulation of organelle organization. Located in several cellular components, including centriolar satellite; photoreceptor cell cilium; and photoreceptor inner segment. Part of BBSome. Is expressed in several structures, including brain; cardiovascular system; eye; genitourinary system; and gut. Used to study Bardet-Biedl syndrome 4 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Orthologous to human BBS4 (Bardet-Biedl syndrome 4). PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity and polyphagia after weaning, retinal degeneration, male infertility, absence of sperm cell flagella, renal abnormalities, impaired olfaction, and abnormal olfactory epithelium and neurons. [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
