Primary Identifier | MGI:1351338 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 14816 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration and G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential. Involved in several processes, including positive regulation of MAPK cascade; regulation of sensory perception of pain; and synaptic signaling via neuropeptide. Acts upstream of or within L-glutamate import across plasma membrane and cellular response to electrical stimulus. Located in dendrite; nucleus; and postsynaptic density. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including appendicular skeleton; eye; nervous system; testis; and tongue. Used to study autosomal recessive spinocerebellar ataxia 13; skin melanoma; and uveal melanoma. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 13 and spinocerebellar ataxia 44. Orthologous to human GRM1 (glutamate metabotropic receptor 1). PHENOTYPE: Mice homozygous for null mutations show impairements in motor coordination, spatial learning, hippocampal mossy fiber long-term potentiation, and cerebellar long-term depression. Homozygotes for a spontaneous mutation are small and exhibit ataxia, kyphoscoliosis, albuminuria and glomerular damage. [provided by MGI curators] |