| Primary Identifier | MGI:95819 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14810 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including calmodulin binding activity; cation binding activity; and monoatomic ion channel activity. Involved in calcium ion transmembrane transport; propylene metabolic process; and regulation of synaptic plasticity. Acts upstream of or within several processes, including chemical synaptic transmission; learning or memory; and regulation of neuron projection development. Located in several cellular components, including postsynaptic density; postsynaptic membrane; and synaptic vesicle membrane. Part of NMDA selective glutamate receptor complex. Is active in glutamatergic synapse and postsynaptic density membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; sensory organ; and skeleton. Used to study autism spectrum disorder and schizophrenia. Human ortholog(s) of this gene implicated in alcohol use disorder; autosomal dominant intellectual developmental disorder 8; cerebral infarction; and developmental and epileptic encephalopathy 101. Orthologous to human GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). PHENOTYPE: Null mutants lack whisker patterns in brain cortex, are ataxic and die neonatally of respiratory failure. Hypomorph mutants exhibit hyperactivity, stereotypy, and impaired social/sexual interactions. Mice homozygous for an ENU-induced allele exhibit abnormal behavior and neuron physiology. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
