Primary Identifier | MGI:105313 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 12704 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein serine/threonine kinase activity. Involved in generation of neurons and mitotic cell cycle. Acts upstream of or within several processes, including dendrite development; metaphase/anaphase transition of mitotic cell cycle; and negative regulation of dendrite morphogenesis. Located in actin cytoskeleton; ruffle; and vacuole. Is expressed in several structures, including central nervous system; hemolymphoid system gland; respiratory system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 17 and primary microcephaly. Orthologous to human CIT (citron rho-interacting serine/threonine kinase). PHENOTYPE: Homozygotes for a null mutation are 20% smaller than wild-type and exhibit tremors, ataxia, and fatal seizures. Brains of mutant mice show a 50% size reduction with abnormalities in the hippocampus, cerebellum, and olfactory lobes. Mutant males show aberrant cytokinesis of spermatogenic precursors. [provided by MGI curators] |