International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


Dr. Helmut Fuchs
GSF National Research Center for Environment and Health
Institute of Experimental Genetics
Ingolstaedter Landstrasse 1
D-85764 Oberschleissheim

Co-Authors: 1) Soewarto D, 2) Rathkolb B, 1) Schäble K, 1) Tiedemann H, 3) Lenkkeri-Schütz U, 4) Kiernan A, 4) Erven A, 4) Rhodes C, 6) Fitch K, 3) Löster J, 5) Avraham K, 6) Barsh G, 7) Herault Y, 4) Steel K, 3) Graw J, 2) Wolf E, 3) Balling R, 1) Hrabé de Angelis M
Institutions: 1)GSF Research Center, Institute of Experimental Genetics, 2) LMU, Institut für Molekulare Tierzucht und Haustiergenetik, 3) GSF Research Center, Institute for Mammalian Genetics, 4) GSF Institute of Hearing Research, University Park, 5) Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Israel 6) Beckman Center,

Using a 49-parameter protocol numerous mutants with defects in the central nervous system (CNS), sense organs, limbs, axial skeleton and pigmentation were identified in a dominant and recessive ENU mutagenesis screen. (Selected mutant lines are shown under:

Collaborations to characterize these mutants have been established and more than 70 mutant lines have already been shipped to our collaborators. Mutants with phenotypes associated with bone development or bone diseases are currently under detailed investigation in our lab.

Mapping and subsequent detection of the mutation causing the phenotype is in progress: From mutants of the dysmorphology screen the chromosomal location has been mapped to an interval of less than 10 cM in 17 lines. Using the candidate gene approach, the exact mutation causing the phenotype has been identified in 8 mutants. For one mutant line, where a first characterisation has been finished, new functions of the Jagged1 gene were identified. The combination of phenotypic analysis and candidate gene approach was also successful in the analysis of several genes and their alleles causing cataracts. The latest results of the dysmorphology screen will be presented.

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