Functional Genetics Group
Head of the group:
Prof. Dr. Martin Hrabé de Angelis
The characterisation of mutants represents a valuable instrument for functional genome analysis. Due to the similarity in their genomes, developmental and biochemical pathways and physiology, the mouse has become the most important model system to study the genetics and pathogenesis of human diseases. The production and characterisation of mouse mutants is in the centre of our research project. The main focus is on mouse models for degenerative bone and cartilage diseases and on the functional analysis of the Delta/Notch pathway. In a “gene driven” approach the use of mouse embryonic stem cells (ES cells) and homologous recombination allows the systematic production of mouse mutants (knock out / knock in). On the other hand, in a “phenotype driven” approach we carry out a large-scale systematic production of mouse mutants by chemical mutagenesis using the alkylating agent ethylnitrosurea (ENU). Mice are screened for a large number of clinically significant parameters. Mutants with relevant phenotypes will be characterised in detail and the underlying genetic modifications will be mapped and isolated.