Beyond the Identification of Transcribed Sequences:
Functional, Evolutionary and Expression Analysis
12th International Workshop
October 25-28, 2002
Washington, DC

List of Abstracts * Speakers * Organizers * Authors * Original Announcement

From Large Scale Mouse Mutagenesis to Gene Function

Martin Hrabé de Angelis
Institute of Experimental Genetics, GSF Research Center for Environment and Health, Neuherberg, Germany

Due to the similarity of genome organisation, developmental and biochemical pathways, the mouse has become one of the major model systems to study the pathogenesis of diseases. As one of the largest ENU mutagenesis programs in Europe, the ENU Mutagenesis Consortium Munich has provided a valuable source of novel mutants for gene function studies and models for human diseases. After concentrating on dominant traits during the first phase of the project, in the second phase, we put our main efforts on recessive phenotypes by producing 100 micropedigrees (20 G3/ micropedigree) per year. In parallel, we continue to produce about 2000 F1 animals to further isolate novel dominant alleles of known and novel genes. 

Currently, more than 30.000 mice have been investigated for dysmorphological and over 10.000 mice for blood based parameters. To date, more than 400 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 predipositions to allergies.

For several mutant phenotypes causative mutations were identified and could be assigned to specific biological functions or to human diseases. Detailed results on the genetic, pathologic, and molecular characterization of e.g. a novel Delta1 gene allele, different eye mutants and deaf mutants will be presented.

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List of Abstracts * Speakers * Organizers * Authors * Original Announcement

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