Primary Identifier | MGI:2686961 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 212111 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables inositol-polyphosphate 5-phosphatase activity. Involved in negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway. Located in dendrite. Is expressed in several structures, including alimentary system; craniocervical region bone; limb; nervous system; and sensory organ. Orthologous to human INPP5A (inositol polyphosphate-5-phosphatase A). PHENOTYPE: Most mice homozygous for a gene trapped allele show preweaning lethality, while surviving mice exhibit decreased body size, small cerebellum, and early-onset, slowly progressive Purkinje cell degeneration, gliosis, and ataxia. [provided by MGI curators] |