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 7.1.0) Enables G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration. Involved in several processes, including positive regulation of MAPK cascade; regulation of sensory perception of pain; and sensory perception of pain. 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 and skin 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] |