Primary Identifier | MGI:96968 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 17294 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable hydrolase activity. Involved in regulation of lipid storage and response to retinoic acid. Located in endoplasmic reticulum. Is expressed in several structures, including central nervous system; embryo mesenchyme; extraembryonic component; heart and pericardium; and neural retina. Used to study Barth syndrome. Orthologous to human MEST (mesoderm specific transcript). PHENOTYPE: Homozygotes for targeted null mutations exhibit retardation of embryonic growth and subtle cardiac abnormalities associated with reduced postnatal survival rates. Mutant females exhibit abnormal maternal behavior and impaired placentophagia. [provided by MGI curators] |