| Primary Identifier | MGI:1862037 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 57138 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables potassium:chloride symporter activity. Acts upstream of or within several processes, including chloride transport; learning; and thermosensory behavior. Located in neuronal cell body and plasma membrane. Is active in postsynaptic specialization membrane. Is expressed in several structures, including central nervous system and retina. Used to study epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 34 and idiopathic generalized epilepsy 14. Orthologous to human SLC12A5 (solute carrier family 12 member 5). PHENOTYPE: Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
