International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 120 - UPDATE FROM JAX PGA: HIGH-THROUGHPUT PHENOTYPING OF MUTAGENIZED AND INBRED STRAINS PROVIDES ROBUST NEW MODELS OF HUMAN DISEASE

Svenson K L
The Jackson Laboratory

Co-Authors: Paigen B, O'Brien T P, Bult CJ, Macauley J B, Peters L L
Institutions: The Jackson Laboratory

Large-scale mutagenesis strategies using the mouse are currently being implemented in many laboratories world-wide. This approach holds promise for identifying key entry points into the mouse genome that will accelerate our understanding of normal and disease processes. Using phenotype-driven strategies to identify deviant animals, followed by genetic mapping, this process will help to link genetic variation to gene function. The Center for New Mouse Models of Heart, Lung, Blood and Sleep Disorders at The Jackson Laboratory employs this approach to identify new mouse models of human disease in these areas using two important resources: (1) Chemically-induced third-generation mutant mice, and (2) 40 inbred mouse strains. We have developed high-throughput, non-invasive phenotyping protocols to evaluate approximately 200 mutagenized genomes annually and for comprehensive characterization of a large inventory of widely used inbred strains. All resources generated by this effort, including mutant mouse models, protocols, and software, are made freely available to the scientific community through our web site (http://pga.jax.org). To date, we have identified 275 phenotypic deviants and have evidence for heritability in 35 of these. Sixteen models are currently available for distribution, representing phenotypes for hypertension, blood disorders, and obesity. A summary of phenotypic deviants identified to date is presented as well as details for accessing both mutant and inbred strain resources. This information provides a measurement of the success of this approach and is offered for useful comparison to other programs using mutagenesis. This program is one of 11 Programs for Genomic Applications funded by the NHLBI, USA.


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