| Primary Identifier | MGI:97565 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 72157 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables phosphoglucomutase activity. Acts upstream of or within glucose metabolic process. Predicted to be located in Z disc. Predicted to be active in cytosol. Is expressed in several structures, including brain; extraembryonic component; future brain; gut; and heart. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation It; endometrial cancer; and teratoma. Orthologous to human PGM1 (phosphoglucomutase 1). PHENOTYPE: Homozygous knockout is embryonic lethal, while heterozygous KO leads to reduced viability. Mice homozygous for a knock-out allele exhibit abnormal branchial arches, abnormal heart morphology including enlarged hearts, placentation defects, and complete lethality during organogenesis. A minority of early E8.5 embryos are delayed and sometimes exhibit an asymmetric anterior neural tube. [provided by MGI curators] |