Primary Identifier | MGI:2442833 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 319845 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in cilium assembly and fat cell differentiation. Located in membrane. Part of BBSome. Is expressed in midgut; nervous system; sensory organ; and spleen. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and primary ovarian insufficiency. Orthologous to human BBS9 (Bardet-Biedl syndrome 9). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit abnormal pelvic girdle bone morphology, short tibia, increased body weight and increased body fat mass. [provided by MGI curators] |