title: Production and characterization of transgenic mice harboring mutant human UMOD gene.
abstract: 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.
authors.affiliation: Department. of Pharmacotherapeutics, Kyoritsu University of Pharmacy, Tokyo, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Takiue
authors.forename: Makoto
authors.initials: M
authors.lastname: Hosoyamada
authors.forename: Takuya
authors.initials: T
authors.lastname: Yokoo
authors.forename: Masaki
authors.initials: M
authors.lastname: Kimura
authors.forename: Manami
authors.initials: M
authors.lastname: Ochiai
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Kaneko
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Ichida
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Hosoya
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shibasaki
mesh_terms: D000818:Animals; D003404:Creatinine / Q000378:metabolism; D004195:Disease Models, Animal; D006801:Humans; D033461:Hyperuricemia / Q000235:genetics / Q000378:metabolism / Q000652:urine; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D051379:Mice; D008822:Mice, Transgenic; D009088:Mucoproteins / Q000235:genetics* / Q000378:metabolism* / Q000652:urine; D009154:Mutation; D058949:Uromodulin
chemical_list: D009088:Mucoproteins; C548612:UMOD protein, human; C548613:Umod protein, mouse; D058949:Uromodulin; D003404:Creatinine