Primary Identifier | MGI:1931123 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 269180 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity. Involved in regulation of postsynaptic membrane neurotransmitter receptor levels. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including cranium; facial prominence ectoderm; integumental system; nervous system; and urinary system. Orthologous to human INPP4A (inositol polyphosphate-4-phosphatase type I A). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit small size, ataxia, loss of cerebellar and hippocampal CA1 neurons, and death by 24 days of age from seizures and/or malnutrition. [provided by MGI curators] |