International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 86 - CONNECTING WITH PHENOTYPE: MAKING THE MOST OF WHAT WE KNOW

Eppig JT
The Jackson Laboratory

Co-Authors: Smith C, Goldsmith C W, Burkhart D L, Lu I, Taylor B A, Vanden Borre P, Washburn L L, Lennon-Pierce M, Lutz C
Institutions: The Jackson Laboratory

The Mouse Genome Informatics Database (MGI, http://www.informatics.jax.org) is an international resource for the genetics, genomics, and biology of the laboratory mouse. As such, we work to support the use of the mouse as a model for human biology and disease. A critical component is the cataloging and annotation of mouse mutant phenotypes and their correlation with human syndromes. These efforts span the range of underlying genetic contribution, from single Mendelian mutations, to QTL and complex traits, to strains (“whole animal genotypes”).

This presentation will discuss the status of annotation of 10,000+ phenotypic alleles (and growing) and the active development of the Mammalian Phenotype Ontology (now with 3000+ terms) as methods to enhance data normalization of phenotype records. A unified approach to phenotype information will enable the generation of novel insights into the mechanism and pathways of genetic interactions leading to phenotypic anomalies and genetic disease, and promote hypothesis generation to explore the underlying mechanisms by which genotype manifests in phenotype.

Supported by NIH grant HG00330


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