A missense mutation in podocin leads to early and severe renal disease in mice.

@article{Philippe2008AMM,
  title={A missense mutation in podocin leads to early and severe renal disease in mice.},
  author={Anne Philippe and Stefanie Weber and Ernie L Esquivel and Christophe Houbron and Ghislaine Hamard and Julien Ratelade and Wilhelm Kriz and Franz Schaefer and Marie Claire Gubler and Corinne Antignac},
  journal={Kidney international},
  year={2008},
  volume={73 9},
  pages={1038-47}
}
Mutations in the NPHS2 gene, encoding podocin, are responsible for familial autosomal recessive and sporadic cases of steroid-resistant nephrotic syndrome. We have successfully generated a mouse model in which the common p.R138Q mutation found in nephrotic patients is expressed in the kidney. Homozygous mice express the mutant protein, which is mislocated to the cytoplasm, along with a portion of the nephrin pool. These mice die within the first month of life, but their survival depends on the… CONTINUE READING
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