International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany

Plenary Presentations * Oral Presentations *
Poster Presentations: Behavioural Genetics and Genomics * Development and Stem Cells * Functional Genome Analysis * Mouse Models of Human Disease * Mouse System Biology Bioinformatics * Multigenic and Multifactorial Trait Analysis * Nutrition and Metabolic Disease * Phenotyping Methods Imaging * The Genetics and Genomics of Infectious Disease *
Verne Chapman Memorial Lecture * Table of Contents * Sponsor/Exhibitor List * Awards * Photographs

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POSTER 110 - MUTANT MICE SHOWING CLINICAL CHEMISTRY DEVIATIONS AS MODELS FOR HUMAN NEPHROPATHIES

Rathkolb B
Institute of Molecular Animal Breeding and Biotechnology, LMU Munich, Hackerstrasse 27, 85764 Oberschleiβheim

Co-Authors: 1) Tran TV, 1) Klempt M, 1) Mohr M, 2) Soewarto D, 2) Hoffmann S, 2) Hrabe de Angelis M, 1) Wolf E 1) Aigner B
Institutions: 1) Institute of Molecular Animal Breeding and Biotechnology, LMU Munich, Hackerstrasse 27, 85764 Oberschleiβheim, 2) Institute of Experimental Genetics, GSF Research Center, Ingolstädter Landstrasse 1, 85764 Oberschleiβheim/Neuherberg

Nephropathies include various multifactorial disorders caused by genetic and/or environmental factors. Chronic renal insufficiencies usually progress to end-stage kidney failure irrespective of the initial nephropathy. Novel animal models for the evaluation of genetic factors in the development of terminal renal failures in humans are urgently needed. Therefore, we identified chemically induced mouse mutants showing relevant alterations in clinical chemistry parameters in the Munich ENU mouse mutagenesis program. The analysis revealed four independent mutant mouse lines (HST001, HST002, HST007, HST009) showing elevated plasma urea levels. Disturbances of the excretion of protein metabolites appear as a consequence of markedly reduced renal function. In humans, this is the main symptom for the subsequent development of clinical nephropathies. One additional line (UAH001) shows albumin excretion in the urine which is a sensitive indicator for early glomerular lesions. The absence of severe pathologic alterations at the initial state of the clinical chemistry deviations reflects the patho-physiologic conditions in humans. In selected lines, first results were obtained from the chromosomal mapping analysis of the causative mutation and the patho-physiologic examination of the consequences thereof. Further examination of the lines will contribute valuable novel data to the understanding of nephrogenomics.