International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 183 - NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES – COMPARATIVE MOUSE GENOMICS CENTERS CONSORTIUM: TO IMPROVE OUR UNDERSTANDING OF THE BIOLOGICAL SIGNIFICANCE OF HUMAN POLYMORPHISMS

Packenham J

National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States

The National Institute of Environmental Health Sciences (NIEHS) Comparative Mouse Genomic Centers Consortium (CMGCC) is a cross-disciplinary, multi-Institutional, program that falls under the auspices of the NIEHS Environmental Genome Project. This program was initiated in 2001 with the goal of developing transgenic and knockout mouse models based on human DNA sequence variants in the environmentally responsive genes discovered under phase I of the EGP.  Ultimately, these models will be used as tools to improve our understanding of the biological significance of human DNA polymorphisms and the role of such variation in environmentally related diseases.  Initially, this program has focused on DNA polymorphisms that occur in DNA repair and cell cycle environmentally responsive genes. 

The Consortium is accomplishing its goals through, mouse model development, technology development, and resources developed by the Consortium.  To date the Consortium has over 32 mouse models under development and has developed through its bioinformatics team a Mouse Federated database, containing three major components: (1) mouse phenotypic assessment that allows for functional prediction of gene variants to model, (2) collection and analysis of phenotypic data including gene expression data, and (3) mouse model dissemination.  Through this database, SNPs are analyzed for their functional impact using SNP location and Haplotype frequency data, structural analysis and prediction, literature mining and potential combinatorial effects through pathway data.  Models are generated and analyzed for pathology and other phenotypic endpoints under various environmental conditions.  This combined knowledge is then integrated to generate knowledge of the human gene in the perturbed mouse background and map new information onto existing knowledge and finally, the experimental data is used to refine and adapt models in order to validate causality pathways. Validated mouse models and resources developed within the CMGCC are available to the general scientific community without charge.  These resources can be found at: http://www.niehs.nih.gov

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