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 7.0.0) Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Predicted to be involved in chaperone-mediated protein complex assembly; non-motile cilium assembly; and photoreceptor cell maintenance. Predicted to act upstream of or within regulation of protein-containing complex assembly. Predicted to be located in cell projection. 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] |