Primary Identifier | MGI:1927139 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 64051 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables protein kinase binding activity. Involved in synaptic vesicle priming. Acts upstream of or within intracellular calcium ion homeostasis. Located in several cellular components, including neuromuscular junction; presynaptic active zone; and synaptic vesicle. Is active in GABA-ergic synapse and glutamatergic synapse. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Orthologous to human SV2A (synaptic vesicle glycoprotein 2A). PHENOTYPE: Homozygotes for targeted null mutations exhibit seizures, retarded growth, and reduced hippocampal (GABA)ergic neurotransmission. Many mutants die shortly after birth, and all are dead by three weeks of age. [provided by MGI curators] |