| Primary Identifier | MGI:1194504 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 16513 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables inward rectifier potassium channel activity. Involved in cellular response to potassium ion and non-motile cilium assembly. Acts upstream of or within several processes, including adult walking behavior; glutamate reuptake; and regulation of resting membrane potential. Located in astrocyte projection; basolateral plasma membrane; and cell body. Is active in ciliary base. Is expressed in several structures, including brain; cochlea; genitourinary system; spinal cord; and stomach. Used to study EAST syndrome. Human ortholog(s) of this gene implicated in EAST syndrome and autosomal recessive nonsyndromic deafness 4. Orthologous to human KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). PHENOTYPE: Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology. [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
