Primary Identifier | MGI:2444430 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 217734 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable mannosyltransferase activity. Acts upstream of or within basement membrane organization; dentate gyrus development; and reactive gliosis. Predicted to be located in cytosol; endoplasmic reticulum membrane; and nuclear lumen. Is expressed in several structures, including central nervous system; craniocervical region bone; gonad; hemolymphoid system gland; and limb. Human ortholog(s) of this gene implicated in lissencephaly and muscular dystrophy (multiple). Orthologous to human POMT2 (protein O-mannosyltransferase 2). PHENOTYPE: Mice homozygous for one knock-out allele die between E8.5 and E9.5 with abnormal Reichert's membrane and runting. Mice homozygous for another allele die before implantation and arrest at the morula stage. [provided by MGI curators] |