| Primary Identifier | MGI:1927248 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 56379 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP-activated inward rectifier potassium channel activity; anion binding activity; and potassium ion binding activity. Acts upstream of or within several processes, including regulation of G-protein activated inward rectifier potassium channel activity; renal sodium ion absorption; and tissue homeostasis. Predicted to be part of monoatomic ion channel complex. Predicted to be active in plasma membrane. Is expressed in heart and metanephros. Used to study Bartter disease type 2. Human ortholog(s) of this gene implicated in Bartter disease type 2. Orthologous to human KCNJ1 (potassium inwardly rectifying channel subfamily J member 1). PHENOTYPE: Most homozygotes for a null mutation die before weaning with impaired electrolyte, acid-base, and fluid-volume homeostasis, reduced NaCl absorption in the thick ascending limb, and abnormal tubuloglomerular feedback. A colony of mutants with extended suvival serves as a model for Bartter's syndrome. [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
