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Deciphering genotype-phenotype correlation : The German Mouse Clinic and more.

Vortrag: HUPO Brain Proteome Project, 8th March 2007, Hinxton, England. (2007)
To overcome the bottleneck of standardized, comprehensive phenotyping in mouse genetics, we established a unique mouse phenotyping center (German Mouse Clinic, GMC) with open access to the scientific community. In the GMC, experts from various fields of mouse physiology and pathology in close cooperation with clinicians work side by side at one location. The examinations comprise the following areas: allergy, behavior, clinical chemistry, cardiovascular analyses, dysmorphology, energy metabolism, eye development and vision, host-pathogen interactions, immunology, lung function, molecular phenotyping, neurology, nociception, steroid metabolism, and pathology. More than 50 mutant lines have been analyzed in the primary screen (240 key parameters), and in 92 % we have found new or additional phenotypes. At least subtle genotype-specific changes were detected in almost every mutant line. Our data contributed in these mutant lines either to the identification of the mouse lines as a model system for these diseases, or we discovered further similarities of the mutant line with the human syndromes. We plan to include genotype-environment-interactions in the analysis of the mutant line and will switch from a constant to a variable environment by establishing “environmental platforms” with different standardized challenge experiments. This will help us to identify genetic predispositions as susceptibility factors for environmental influences. The presentation will focus on bone and cartilage related phenotypes reporting new cellular and molecular findings for a model of osteogenesis imperfecta.
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Publication type Other: Lecture
Conference Title HUPO Brain Proteome Project
Conference Date 8th March 2007
Conference Location Hinxton, England