International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 111 - NEW MUTANT MOUSE MODELS FOR INHERITED IRON METABOLISM DISORDERS

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

Co-Authors: 1) Klempt M, 1) Mohr M, 2) Soewarto D, 2) Hoffmann S, 2) Wagner 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

Iron plays an essential role in many metabolic processes, as part of oxygen binding molecules and many enzymes. The toxic effects of iron overload is triggered by its radical forming capacity. Since there is no physiologic way of iron excretion, the tissue iron content is tightly regulated by effective mechanisms controlling the intestinal iron uptake and its distribution among different tissues. The susceptibility of this system for endogenous or exogenous impairment is documented by the high frequency of iron metabolism disorders in humans. Regulation of iron uptake and distribution has been partly unravelled by investigations on spontaneous or induced mutants of laboratory animals. However, many mechanisms of regulation still remain to be elucidated which requires additional animal models.

The clinical chemical screen within the Munich ENU mouse mutagenesis project established more than 100 new mutant mouse lines, characterized by aberrant plasma concentrations of specific substrates or electrolytes, unphysiologic plasma enzyme activities or changes in haematological parameters. More than 30 lines show aberrations of erythropoeisis and/or unusual levels of iron metabolism related parameters: Nine mutants show an macrocytic bloodpicture, 21 lines are characterized by microcytosis, partly accompanied by anaemia, one line shows polycytaemia rubra, two lines have elevated plasma ferritin levels and one mutant is characterised by elevated plasma iron, ferritin and transferrin accompanied by anaemia and signs of liver disease. Out of these five mutant mouse lines with aberrant levels of iron metabolism related parameters (FER001, CCH001, MVU007, MVD019, MVU008) were selected for a comprehensive phenotypic and genetic characterization to elucidate the molecular causes and pathogenetic mechanisms underlying the aberrant phenotype.


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