Production and characterization of transgenic mice harboring mutant human UMOD gene

Yuichi Takiue, Makoto Hosoyamada, Takuya Yokoo, Masaki Kimura, Manami Ochiai, Kiyoko Kaneko, Kimiyoshi Ichida, Tatsuo Hosoya, Toshiaki Shibasaki

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)596-600
Number of pages5
JournalNucleosides, Nucleotides and Nucleic Acids
Issue number6-7
Publication statusPublished - 2008 Jun


  • Creatinine clearance
  • Familial juvenile hyperuricemic nephropathy
  • LC-MS/MS
  • Transgenic mice
  • Uromodulin

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics


Dive into the research topics of 'Production and characterization of transgenic mice harboring mutant human UMOD gene'. Together they form a unique fingerprint.

Cite this