| Primary Identifier | MGI:107387 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 11829 |
| 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 several processes, including cerebrospinal fluid circulation; cerebrospinal fluid secretion; and intracellular water homeostasis. Acts upstream of or within establishment of localization in cell; renal water absorption; and sensory perception of sound. Located in several cellular components, including astrocyte end-foot; basolateral plasma membrane; and sarcolemma. Is expressed in several structures, including alimentary system; central nervous system; exocrine system; metanephros; and sensory organ. Used to study malaria. Human ortholog(s) of this gene implicated in several diseases, including Meniere's disease; megalencephalic leukoencephalopathy with subcortical cysts; optic nerve disease (multiple); temporal lobe epilepsy; and transverse myelitis. Orthologous to human AQP4 (aquaporin 4). PHENOTYPE: Homozygotes for a null allele show decreased urine osmolality, reduced brain edema after water intoxication and stroke, and impaired hearing. Homozygotes for another null allele show female subfertility, impaired folliculogenesis, reduced corpora lutea number and uterine response to gonadotropins. [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
