Primary Identifier | MGI:1914944 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 67694 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity. Acts upstream of or within several processes, including keratinocyte development; negative regulation of keratinocyte proliferation; and non-motile cilium assembly. Located in centrosome; cilium; and nucleus. Part of intraciliary transport particle B. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and respiratory system. Used to study visceral heterotaxy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 22; Joubert syndrome; and spermatogenic failure 58. Orthologous to human IFT74 (intraflagellar transport 74). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy. [provided by MGI curators] |