Primary Identifier | MGI:1923818 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 76568 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within cilium assembly and smoothened signaling pathway. Located in centrosome and motile cilium. Part of intraciliary transport particle B. Is expressed in several structures, including brain; gonad; hemolymphoid system gland; hindlimb; and otocyst. Orthologous to human IFT46 (intraflagellar transport 46). PHENOTYPE: Mice homozygous for a knock-out allele are embryonic lethal at E10.5 and exhibit embryonic growth retardation, neural tube defects, cardiac edema, and randomized heart looping due to absence of cilia at the embryonic node. [provided by MGI curators] |