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Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):596-600. doi: 10.1080/15257770802136065.

Production and characterization of transgenic mice harboring mutant human UMOD gene.

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Department. of Pharmacotherapeutics, Kyoritsu University of Pharmacy, Tokyo, Japan.


Familial juvenile hyperuricemic nephropathy is caused by mutations in the UMOD gene encoding uromodulin. A transgenic mouse model was developed by introducing a human mutant UMOD (C148W) cDNA under control of the mouse umod promoter. Uromodulin accumulation was observed in the thick ascending limb cells in the kidney of transgenic mice. However, the urinary excretion of uromodulin in transgenic mice did not decrease and LC-MS/MS analysis indicated it was of mouse origin. Moreover, the creatinine clearance was not different between wildtype and transgenic animals. Consequently, the onset of the disease was not observed in transgenic mice until 24 weeks of age.

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