[HTML][HTML] Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus

B Yang, A Gillespie, EJ Carlson, CJ Epstein… - Journal of Biological …, 2001 - ASBMB
Hereditary non-X-linked nephrogenic diabetes insipidus (NDI) is caused by mutations in the
aquaporin-2 (AQP2) water channel. In transfected cells, the human disease-causing mutant
AQP2-T126M is retained at the endoplasmic reticulum (ER) where it is functional and
targetable to the plasma membrane with chemical chaperones. A mouse knock-in model of
NDI was generated by targeted gene replacement using a Cre-loxP strategy. Along with
T126M, mutations H122S, N124S, and A125T were introduced to preserve the consensus …