| Primary Identifier | MGI:1919819 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 72569 |
| 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 and phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in cilium assembly and intracellular transport. Located in axoneme; centriolar satellite; and ciliary basal body. Part of BBSome. Is expressed in brain; spinal cord; and testis. Used to study Bardet-Biedl syndrome 5. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5). PHENOTYPE: Mice with an incomplete loss of function allele show increased postnatal lethality, craniofacial and skeletal defects, ventriculomegaly and pituitary abnormalities, infertility and obesity in adulthood. [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
