Primary Identifier | MGI:1932386 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 81896 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including cilium organization; embryonic morphogenesis; and protein localization to organelle. Acts upstream of or within several processes, including embryonic morphogenesis; negative regulation of keratinocyte proliferation; and non-motile cilium assembly. Located in several cellular components, including ciliary basal body; ciliary base; and photoreceptor connecting cilium. Part of intraciliary transport particle A. Is expressed in several structures, including choroid plexus; dorsal root ganglion; genitourinary system; olfactory epithelium; and pituitary gland. Human ortholog(s) of this gene implicated in cranioectodermal dysplasia 1. Orthologous to human IFT122 (intraflagellar transport 122). PHENOTYPE: Homozygotes for a null mutation display embryonic lethality during organogenesis with exencephaly, a ventralized caudal neural tube, preaxial polydactyly, abnormal cilia, and left-right patterning defects. [provided by MGI curators] |