Primary Identifier | MGI:95823 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 14814 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables NMDA glutamate receptor activity. Involved in regulation of synaptic plasticity. Acts upstream of or within adult locomotory behavior; regulation of sensory perception of pain; and startle response. Located in synapse. Is expressed in brain. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 46. Orthologous to human GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D). PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced spontaneous activity and an elevated auditory brainstem response threshold. [provided by MGI curators] |