Primary Identifier | MGI:98715 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 21821 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables kinesin binding activity. Involved in cilium assembly; regulation of autophagosome assembly; and regulation of cilium assembly. Acts upstream of or within several processes, including circulatory system development; nervous system development; and spermatid development. Located in several cellular components, including ciliary base; cytoskeleton; and non-motile cilium. Part of intraciliary transport particle B. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and respiratory system. Used to study autosomal recessive polycystic kidney disease; mitral valve disease; and scimitar syndrome. Orthologous to human IFT88 (intraflagellar transport 88). PHENOTYPE: Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia. [provided by MGI curators] |