Primary Identifier | MGI:105090 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 104245 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable glycine:sodium symporter activity. Involved in neurotransmitter reuptake. Is active in glycinergic synapse. Is expressed in several structures, including adrenal gland; central nervous system; esophagus; lens; and male reproductive gland or organ. Used to study hyperekplexia 3. Human ortholog(s) of this gene implicated in hyperekplexia 3. Orthologous to human SLC6A5 (solute carrier family 6 member 5). PHENOTYPE: Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. [provided by MGI curators] |