Primary Identifier | MGI:1915349 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 68099 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phospholipid binding activity. Involved in cilium assembly; limb morphogenesis; and positive regulation of smoothened signaling pathway. Located in ciliary basal body; ciliary transition zone; and mitochondrion. Is expressed in apical ectodermal ridge; limb bud; and limb mesenchyme. Used to study polydactyly. Orthologous to human CIBAR1 (CBY1 interacting BAR domain containing 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased leukocyte cell number, abnormal digit morphology including metatarsal osteomas and polysyndactyly, tendon calcification, distinct abnormalities on the deltoid tuberosity of the humerus, and abnormal food intake that is specific to males. [provided by MGI curators] |