| Primary Identifier | MGI:1096865 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 11827 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables water channel activity. Involved in metanephric collecting duct development. Acts upstream of or within cellular response to water deprivation and renal water transport. Located in several cellular components, including apical plasma membrane; lumenal side of membrane; and recycling endosome. Is expressed in inner ear; metanephros; vestibulo-cochlear ganglion; and vestibulocochlear nerve cochlear component. Used to study nephrogenic diabetes insipidus. Human ortholog(s) of this gene implicated in nephrogenic diabetes insipidus and nephrogenic diabetes insipidus type 2. Orthologous to human AQP2 (aquaporin 2). PHENOTYPE: Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood. [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
