Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus.

@article{Yang2001NeonatalMI,
  title={Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus.},
  author={Baoxue Yang and Annemarie Gillespie and Eric J. Carlson and Charles J. Epstein and Alan S. Verkman},
  journal={The Journal of biological chemistry},
  year={2001},
  volume={276 4},
  pages={2775-9}
}
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… CONTINUE READING

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Neonatal mortality in an aquaporin-2 knock - in mouse model of recessive nephrogenic diabetes insipidus .
Hereditary non - X - linked nephrogenic diabetes insipidus ( NDI ) is caused by mutations in the aquaporin-2 ( AQP2 ) water channel .
Neonatal mortality in an aquaporin-2 knock - in mouse model of recessive nephrogenic diabetes insipidus .
Hereditary non - X - linked nephrogenic diabetes insipidus ( NDI ) is caused by mutations in the aquaporin-2 ( AQP2 ) water channel .
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