Primary Identifier | MGI:2146906 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 106633 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including cilium organization; embryonic organ development; and regionalization. Located in cytoskeleton and photoreceptor cell cilium. Part of intraciliary transport particle A. Is expressed in several structures, including adrenal gland; bone; eye; heart; and perichondrium. Used to study asphyxiating thoracic dystrophy 1 and short-rib thoracic dysplasia 9 with or without polydactyly. Human ortholog(s) of this gene implicated in retinitis pigmentosa and short-rib thoracic dysplasia 9 with or without polydactyly. Orthologous to human IFT140 (intraflagellar transport 140). PHENOTYPE: Mice homozygous for a reporter knock-out allele die at mid-gestation. Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects and situs abnormalities. [provided by MGI curators] |