| Primary Identifier | MGI:1919019 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 71769 |
| 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. Acts upstream of or within several processes, including neuronal action potential; retina morphogenesis in camera-type eye; and visual perception. Predicted to be located in cilium. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; pituitary gland; and respiratory system. Used to study Bardet-Biedl syndrome 10. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 10. Orthologous to human BBS10 (Bardet-Biedl syndrome 10). PHENOTYPE: Mice homozygous for a knock-out allele develop obesity, hyperleptinemia, retinal degeneration, structural defects in renal glomeruli, microalbuminuria, polyuria, increased circulating antidiuretic hormone levels, and vacuolated renal epithelial cells. [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
