Primary Identifier | MGI:1913583 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 66333 |
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 intracellular oxygen homeostasis; intracellular water homeostasis; and negative regulation of ERAD pathway. Acts upstream of or within with a positive effect on protein glycosylation. Acts upstream of or within endosomal lumen acidification; kidney development; and water transport. Located in endoplasmic reticulum and plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and submandibular gland primordium. Orthologous to human AQP11 (aquaporin 11). PHENOTYPE: Homozygous null mice display premature death, kidney failure, polycystic kidneys with cysts originating from the proximal tubules, and growth retardation. Mice homozygous for an ENU-induced mutation are apparently healthy but exhibit sudden death between2 and 3 weeks of age. [provided by MGI curators] |