| Primary Identifier | MGI:1277215 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 52028 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphoprotein binding activity and signaling receptor binding activity. Involved in cilium assembly; fat cell differentiation; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including nervous system development; non-motile cilium assembly; and olfactory behavior. Located in centriolar satellite and motile cilium. Part of BBSome. Is expressed in central nervous system; metanephros; and retina. Used to study Bardet-Biedl syndrome 1 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1). PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, 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
