Primary Identifier | MGI:1924393 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 109181 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable small GTPase binding activity. Acts upstream of or within several processes, including chondrocyte differentiation involved in endochondral bone morphogenesis; inner ear receptor cell stereocilium organization; and ventricular septum development. Located in acrosomal membrane and cis-Golgi network. Is expressed in cranium. Used to study achondrogenesis type IA. Human ortholog(s) of this gene implicated in achondrogenesis type IA. Orthologous to human TRIP11 (thyroid hormone receptor interactor 11). PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with small size, lung hypoplasia, omphalocele, and ventricular septal defects. [provided by MGI curators] |