International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)

POSTER 240 - The Munich ENU Mouse Mutagenesis Project – an update

Dian Soewarto
GSF Research Center

Co-Authors: 1)Blanquet V, 3)Rathkolb B, 2)Flaswinkel H, 1)Fuchs H, 1)Marschall S, 1)Schäble K, 1)Tiedemann H, 5)Alessandrini F, 5)Jakob T, 6)Fuchs E, 6)Kolb H, 7)Kremmer E, 5)Behrendt H, 5)Ring J, 8)Zimmer A, 2)Pfeffer K, 9)Balling R, 3)Wolf E, 1)Hrabé de Angelis M
Institutions: 1)Institute of Experimental Genetics, GSF Research Center for Environment and Health, 2)Institute of Medical Microbiology, Immunology and Hygiene, Technical University of Munich, 3)Institute of Molecular Animal Breeding, Gene Center, University of Munich, 4) Max-Delbrueck-Centre, Molekulare Genetik und Mikrosatellitenzentrum, 5)Division Environmental Dermatology and Allergology, 6)Institute of Clinical Chemistry, Clinic Harlaching, 7)Institute of Immunology, GSF Research Center for Environment and Health, 8)Division MolecularNeurobiology, Polyclinic for Psychiatry, University of Bonn, 9)GBF German Resaerch Center for Biotechnology

With the completion of the human genome sequence and the prospect of a complete mouse sequence within the near future, a major challange is the systematic determination of gene function in mammals. The growing ENU mouse mutant resource provides a powerful entry point to gene function studies.

Here, we give an update of one of the largest ENU mutagenesis programs in Europe, the Munich ENU Mouse Mutagenesis Project. Our screen, which has been mainly focusing on dominant phenotypes in the last four years, is now concentrating on the generation of recessive mouse mutants.

Currently, more than 30.000 mice have been investigated for dysmorphology and about 20.000 mice for blood based parameters. Novel dominant or recessive phenotypes have been identified with specific abnormalities comprising congenital malformations, biochemical alterations, immunological defects and complex traits such as behaviour or predispositions to allergies. Mutants of clinical relevance for inherited diseases in human have been further analysed by backcross mapping and genome-wide microsatellite typing. Recent mapping data will be presented.

Although the efficiency of such systematic, non invasive, phenotypic screens have been proven, more refined screening protocols have to be implemented in order to characterize mutant phenotypes more precisely. For this purpose, a centre of standardised, phenotypic procedures, „ a mouse clinic“, has been built up at the GSF research centre. This platform, consisting of 12 different, phenotypic labs, will provide a standardised, phenotypic analysis of spontaneous and induced mouse mutants created by gene targeting, including gene trap, or chemical mutagenesis.

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