Primary Identifier | MGI:1923696 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 233064 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be involved in several processes, including centriole replication; nervous system development; and positive regulation of neuroblast proliferation. Predicted to act upstream of or within mitotic spindle organization and neuronal stem cell population maintenance. Predicted to be located in cytosol; microtubule cytoskeleton; and nucleus. Is expressed in several structures, including brain; future brain; limb bud; nasal process; and trunk somite. Used to study primary autosomal recessive microcephaly 2 with or without cortical malformations. Human ortholog(s) of this gene implicated in intellectual disability; polymicrogyria; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 2 with or without cortical malformations. Orthologous to human WDR62 (WD repeat domain 62). PHENOTYPE: Mice for a hypomorphic allele exhibit reduced brain size due to decreased neural progenitor cells. Cells show spindle instability, spindle assembly checkpoint activation, mitotic arrest and cell death. Homozygous KO leads to thin cerebral cortex and to male and female infertility owing to germ cell meiotic failures. [provided by MGI curators] |