International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 148 - COMPREHENSIVE, STANDARDIZED PHENOTYPING OF MOUSE MUTANTS  IN THE GERMAN MOUSE CLINIC (GMC)

Fuchs H 1, Gailus-Durner V 1, Lengger Ch 1, Reinhard C 2, Schluz H 2, Calcada-Wack J 3, Elvert R 4, Dalke C 5, Franz TJ 6, Grundner-Culemann E 1, Hoelter SM 5, Javaheri A 7, Kalaydjiev S 6, Klempt M 8, Kunder S 3, Mijalski T 1, Horsch M 1, Pedersen V 5, Prehn C 1, Radc I1, Schneider I 1, Ehrhard N 4, Brielmeier M 2, Lengeling A 3, Müller W 4, Reitmeir P 9, Schmidt J 2, Adamski J 1, Beckers J 1, Behrendt H 7, Busch DH 6, Favor J 5, Graw J 5, Heldmaier G 4, Heyder J 2, Höfler H 3, Klingenspor M 4, Klopstock T 1, Meitinger T 5, Ollert M 7, Quintanilla Martinez L 3, Wolf E 8, Wurst W 5, Zimmer A 1, Hrabe de Angelis M 1

1 GSF Research Center, Institute of Experimental Genetics, Munich, Germany, 2 GSF Research Center, Institute of Inhalation Biology, Munich, Germany, 3 GSF Research Center, Institute of Pathology, Munich, Germany, 4 Phillips Univsersity, Department of Biology, Marburg, Germany, 5 GSF Research Center, Institute of Developmental Genetics, Munich, Germany, 6 TUM, Institute of Medical Microbiology, Immunology and Hygieny, Munich, Germany, 7 TUM Division of Environmental Dermatology and Allergy, Munich, Germany, 8 LMU, Lehrstuhl für  Molekulare Tierzucht und Biotechnologie, Munich, Germany, 9 GSF Research Center, IGM, Munich, Germany,

During the last years, large-scale projects like ENU mutagenesis, gene trap or knock-out generation, brought about many new mouse mutants. In many cases those lines were generated by a highly-specialized lab, and had not been comprehensively phenotyped under standardized conditions. Since mutations might have pleiotropic effects causing phenotypes in different organ systems and pathways, it is very likely that additional phenotypes were not uncovered, and the enormous scientific value of those new mutants remained unexploited. To overcome this “phenotyping gap”, the German Mouse Clinic (GMC, www.mouseclinic.de) was established. The GMC offers a phenotyping platform for comprehensive and standardized phenotyping of mouse mutants in the fields of behaviour, dysmorphology, bone and cartilage, neurology, eye function and development, clinical chemistry, immunology, allergy, steroid metabolism, nociception, expression profiling, lung function, cardiovascular diseases, energy metabolism and pathology. Additional screens for host-pathogen interaction are performed at collaborating institutes. In a primary screen more than 200 key parameters covering fundamental biological pathways are determined. When new phenotypes of interest are detected, more detailed analysis can be performed in secondary and tertiary screens.

Twenty mutant lines have already finished the primary phenotyping in the German Mouse Clinic. In nearly 90% of the lines, new, previously unknown phenotypes could be assigned to the mutant. More than 100 significant differences between mutants and their littermate controls were identified. All screens of the German Mouse Clinic contributed new phenotypes in various mutant lines. A more detailed analysis of these mutant lines in secondary screens is currently in progress.

This work is supported by the National Genome Research Network NGFN (GR-010313).

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