International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


Soewarto D 1, Wagner S 1, Rathkolb B 3, Fuchs H 1, Moor M 3, Klempt M 3, Howaldt M 3, Kalaydjiev S 2, Franz T 2, Schneider I 1, Marschall S 1, Boersma A 1, Schäble K 1, Tiedemann H 1, Schneltzler E 1, Steinkamp R 1, Alessandrini F 5, Jakob T 5, Binder E 9, Kremmer E 6, Behrendt H 5, Ring J 5, Zimmer A 7, Peters C 1, Flaswinkel H 3, Busch D 2, Pfeffer K 2, Klopstock T 1, Gekeler F 1, Ohl F 9, Balling R 8, Wolf E 3, Hrabe de Angelis M 1

1 GSF Research Center, Institute of Experimental Genetics, Munich, Germany, 2 Institute of Medical Microbiology, Immunology and Hygiene, Technical University of Munich, Munich, Germany, 3 Institute of Molecular Animal Breeding, Gene Center, University of Munich, Munich, Germany, 4 Max-Delbrueck-Centre, Molekulare Genetik und Mikrosatellitenzentrum, Berlin, Germany, 5 Division Environmental Dermatology and Allergology, GSF/TUM, Munich, Germany, 6 Institute of Immunology, GSF Research Center for Environment and Health, Munich, Germany, 7 Division Molecular Neurobiology, Polyclinic for Psychiatry, University of Bonn, Bonn, Germany, 8 German Resaerch Center for Biotechnology, Braunschweig, Germany, 9 Max Planck Institute of Psychiatry, Munich, Germany, 10 Department of Neurology, Clinic Großhadern, University of Munich, Munich, Germany, 11 Institute of Internal Medicine I, Medical Microbiology, University Clinic Freiburg, Freiburg, Germany

Mouse models have proven to play an important role in gene function studies for inherited diseases in humans. We give an update of one of the largest ENU mutagenesis programs in Europe, the Munich ENU Mouse Mutagenesis Project. After having focused on dominant traits in the first years, we put our main efforts during the last years on recessive phenotypes. In addition, we continue to produce F1 animals to further isolate novel dominant alleles of known and new genes.

Currently, more than 34.000 mice have been investigated for dysmorphology and blood based parameters. To date, more than 550 mutant lines have been isolated. 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. Many mutant lines deriving from this ENU Screen are under detailed phenotypic characterisation and have been proceeded for fine mapping and positional cloning (Kiernan et al. 2001, Graw et al. 2001). With Beethoven (Bth) (Vreugde et al. 2002) a semidominant mouse model for progressive hearing loss was found. Some new mutant lines with clinical relevance from various screens associated to the ENU project will be shown in this presentation.


Graw J. et al. 2001. Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract. Exp Eye Res 73, 867-876

Kiernan A. et al. 2001. The Notch ligand Jagged1 is required for inner ear sensory development. PNAS 98, 3873-3878

Vreugde S. et. al. 2002. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nature Genetics 30, 257-258

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