Primary Identifier | MGI:95747 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 14654 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables extracellularly glycine-gated chloride channel activity; glycine binding activity; and transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Involved in glycinergic synaptic transmission; inhibitory postsynaptic potential; and response to alcohol. Acts upstream of or within several processes, including adult walking behavior; neuronal action potential; and regulation of respiratory gaseous exchange by nervous system process. Located in several cellular components, including external side of plasma membrane; inhibitory synapse; and postsynaptic membrane. Is active in glycinergic synapse. Is expressed in brain; brainstem; rhombomere 2; rhombomere 4; and spinal cord. Used to study hyperekplexia and hyperekplexia 1. Human ortholog(s) of this gene implicated in hyperekplexia 1. Orthologous to human GLRA1 (glycine receptor alpha 1). PHENOTYPE: Mutations in this gene result in neurological defects for all alleles reported. Specific alleles also show affects on viability, reproductive performance, and/or eye and respiratory physiology. [provided by MGI curators] |