Primary Identifier | MGI:2671987 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 210274 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables ionotropic glutamate receptor binding activity. Involved in several processes, including learning or memory; modulation of chemical synaptic transmission; and social behavior. Located in several cellular components, including neurofilament; photoreceptor inner segment; and photoreceptor outer segment. Colocalizes with postsynaptic membrane. Is expressed in cerebellum; cerebral cortex; frontal cortex; neocortex; and neocortex region. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human SHANK2 (SH3 and multiple ankyrin repeat domains 2). PHENOTYPE: Mice homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping. [provided by MGI curators] |