Primary Identifier | MGI:2444853 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 264134 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables intraciliary transport particle B binding activity. Involved in cilium organization; protein localization to cilium; and smoothened signaling pathway. Acts upstream of or within manchette assembly. Located in centrosome; ciliary basal body; and neuron projection. Part of intraciliary transport particle B. Is expressed in spinal cord. Orthologous to human IFT56 (intraflagellar transport 56). PHENOTYPE: Mice homozygous for a spontaneous nonsense mutation exhibit partial prenatal lethality, a hopping gait, preaxial polydactyly, male sterility due to lack of sperm flagella, impaired hearing, and patterning defects that are typical of impaired Hedgehog signaling. [provided by MGI curators] |