NDLI: Standardized, Systemic Phenotypic Analysis of Umod C93F and Umod A227T Mutant Mice

Content Provider	PubMed Central
Author	Elisabeth, Kemter Petra, Prückl Rathkolb, Birgit Micklich, Kateryna Adler, Thure Becker, Lore Beckers, Johannes Busch, Dirk H. Götz, Alexander A. Hans, Wolfgang Horsch, Marion Ivandic, Boris Martin, Klingenspor Klopstock, Thomas Rozman, Jan Schrewe, Anja Schulz, Holger Fuchs, Helmut Gailus-durner, Valérie Angelis, Martin Hrabé De Wolf, Eckhard Aigner, Bernhard
Editor	Herault, Yann
Copyright Year	2013
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.
Related Links	http://dx.doi.org/10.1371/journal.pone.0078337
Starting Page	78337
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	10
Volume Number	8
Language	English
Publisher	Public Library of Science
Publisher Date	2013-10-24
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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