Primary Identifier | MGI:3039785 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 240057 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTPase activator activity. Involved in maintenance of postsynaptic specialization structure and modulation of chemical synaptic transmission. Acts upstream of or within several processes, including Ras protein signal transduction; regulation of long-term neuronal synaptic plasticity; and visual learning. Located in dendritic shaft; membrane; and postsynaptic density. Is active in glutamatergic synapse. Is expressed in brain. Used to study schizophrenia. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 5. Orthologous to human SYNGAP1 (synaptic Ras GTPase activating protein 1). PHENOTYPE: Homozygous mutant mice exhibit postnatal lethality, and by P3-P4, exhibit small body size and brain, reduced movement and do not feed. [provided by MGI curators] |