title: Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice.
abstract: Uromodulin-associated kidney disease (UAKD) summarizes different clinical features of an autosomal dominant heritable disease syndrome in humans with a proven uromodulin (UMOD) mutation involved. It is often characterized by hyperuricemia, gout, alteration of urine concentrating ability, as well as a variable rate of disease progression inconstantly leading to renal failure and histological alterations of the kidneys. We recently established the two Umod mutant mouse lines Umod(C93F) and Umod(A227T) on the C3H inbred genetic background both showing kidney defects analogous to those found in human UAKD patients. In addition, disease symptoms were revealed that were not yet described in other published mouse models of UAKD. To examine if further organ systems and/or metabolic pathways are affected by Umod mutations as primary or secondary effects, we describe a standardized, systemic phenotypic analysis of the two mutant mouse lines Umod(A227T) and Umod(C93F) in the German Mouse Clinic. Different genotypes as well as different ages were tested. Beside the already published changes in body weight, body composition and bone metabolism, the influence of the Umod mutation on energy metabolism was confirmed. Hematological analysis revealed a moderate microcytic and erythropenic anemia in older Umod mutant mice. Data of the other analyses in 7-10 month-old mutant mice showed single small additional effects.
authors.affiliation: Chair for Molecular Animal Breeding and Biotechnology, and Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU, Munich, Munich, Germany.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kemter
authors.forename: Petra
authors.initials: P
authors.lastname: Prückl
authors.forename: Birgit
authors.initials: B
authors.lastname: Rathkolb
authors.forename: Kateryna
authors.initials: K
authors.lastname: Micklich
authors.forename: Thure
authors.initials: T
authors.lastname: Adler
authors.forename: Lore
authors.initials: L
authors.lastname: Becker
authors.forename: Johannes
authors.initials: J
authors.lastname: Beckers
authors.forename: Dirk H
authors.initials: DH
authors.lastname: Busch
authors.forename: Alexander A
authors.initials: AA
authors.lastname: Götz
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Hans
authors.forename: Marion
authors.initials: M
authors.lastname: Horsch
authors.forename: Boris
authors.initials: B
authors.lastname: Ivandic
authors.forename: Martin
authors.initials: M
authors.lastname: Klingenspor
authors.forename: Thomas
authors.initials: T
authors.lastname: Klopstock
authors.forename: Jan
authors.initials: J
authors.lastname: Rozman
authors.forename: Anja
authors.initials: A
authors.lastname: Schrewe
authors.forename: Holger
authors.initials: H
authors.lastname: Schulz
authors.forename: Helmut
authors.initials: H
authors.lastname: Fuchs
authors.forename: Valérie
authors.initials: V
authors.lastname: Gailus-Durner
authors.forename: Martin
authors.initials: M
authors.lastname: Hrabé de Angelis
authors.forename: Eckhard
authors.initials: E
authors.lastname: Wolf
authors.forename: Bernhard
authors.initials: B
authors.lastname: Aigner
mesh_terms: D000740:Anemia / Q000235:genetics / Q000473:pathology; D000818:Animals; D004734:Energy Metabolism / Q000235:genetics; D005260:Female; D005838:Genotype; D007674:Kidney Diseases / Q000235:genetics / Q000473:pathology*; D008297:Male; D008809:Mice, Inbred C3H; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012015:Reference Standards; D058949:Uromodulin / Q000235:genetics*
chemical_list: D058949:Uromodulin