{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T03:45:18Z","timestamp":1773459918774,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,15]],"date-time":"2009-01-15T00:00:00Z","timestamp":1231977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Physiology"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:p>Aquaporins (AQPs) are central players in mammalian physiology, allowing efficient water transport through cellular membranes. To date, 13 different aquaporins have been identified in mammals (AQP0\u2013AQP12). Knocking out genes in mice and identification of mutations in the human genes provided important information on the role of AQPs in normal physiology. While the physiological role of many AQPs only becomes clear when the putative function is challenged, the lack of AQP2 directly results in a disease phenotype. Aquaporin 2 is highly expressed in the principal cells of the renal collecting duct, where it shuttles between intracellular storage vesicles and the apical membrane. Upon hypernatraemia or hypovolaemia, the antidiuretic hormone vasopressin (AVP) is released from the pituitary into blood and binds to its type 2 receptor on renal principal cells. This initiates a cAMP signalling cascade resulting in the translocation of AQP2\u2010bearing vesicles to the apical membrane. Subsequently, pro\u2010urinary water reabsorption and urine concentration occurs. This process is reversed by a reduction in circulating AVP levels, which is obtained with the establishment of isotonicity. In humans, mutations in the <jats:italic>AQP2<\/jats:italic> gene cause congenital nephrogenic diabetes insipidus (NDI), a disorder characterized by an inability to concentrate urine in response to vasopressin. Until the recent development of several congenital NDI mouse models, our knowledge on AQP2 regulation was primarily based on <jats:italic>in vitro<\/jats:italic> studies. This review focuses on the similarities between the <jats:italic>in vitro<\/jats:italic> and <jats:italic>in vivo<\/jats:italic> studies and discusses new insights into congenital NDI obtained from the mouse models.<\/jats:p>","DOI":"10.1113\/expphysiol.2008.043000","type":"journal-article","created":{"date-parts":[[2008,9,13]],"date-time":"2008-09-13T00:25:11Z","timestamp":1221265511000},"page":"186-190","source":"Crossref","is-referenced-by-count":21,"title":["Congenital nephrogenic diabetes insipidus: what can we learn from mouse models?"],"prefix":"10.1113","volume":"94","author":[{"given":"Michelle","family":"Boone","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter M. 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