Primary Identifier | MGI:1933158 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 55980 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables magnesium ion binding activity. Predicted to be involved in inositol metabolic process; phosphatidylinositol biosynthetic process; and signal transduction. Predicted to be located in axon; cytoplasm; and neuronal cell body. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 59 and intellectual disability. Orthologous to human IMPA1 (inositol monophosphatase 1). PHENOTYPE: Most mice homozygous for a knock-out allele die between E9.5 and E10.5 with surviving mice exhibiting hyperactivity, increased rearing, and increased susceptibility to pilocarpine-induced seizures. [provided by MGI curators] |