International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


POSTER 168 - USING THE MOUSE GENOME DATABASE TO EXPLORE THE GENOTYPE-PHENOTYPE CONNECTION (http://www.informatics.jax.org)

JT Eppig
The Jackson Laboratory

Smith C, Goldsmith C, Blake J, Burkart D, vandenBorre P, Washburn L, Lu I, Lutz C
The Jackson Laboratory

A primary goal of the Mouse Genome Database (MGD) is to facilitate the understanding of genotype-phenotype relationships. To enable analysis and comparison of phenotypes, methods for storing and integrating phenotypic data and ways to effectively query and display results are needed. Exploration of these data should allow users to develop novel insights and lead to hypotheses for exploring normal and disease mechanisms.A number of initiatives are being undertaken to improve the organization and robustness of phenotypic information in MGD. To facilitate searching, alleles now have object status and are associated with many new attributes. These include allele origin, generation method, molecular definition, and mode of inheritance. A set of 106 vocabulary terms has been implemented to bin phenotypic mutations into classes. These defined terms are used in MGD to annotate phenotypic alleles and QTL where each genotype/strain background combination is associated with one or more vocabulary terms and citations. A larger structured vocabulary of >1700 defined terms represents the beginning of a more comprehensive system that will be expanded through MGD curation efforts and community participation, and driven by improved phenotyping technologies.Links to Online Mendelian Inheritance in Man (OMIM) are now curated both to the orthologous human gene and to human disease syndromes for which a particular mouse mutant is used as a model system (whether or not a common etiology is known).We will discuss these new initiatives and the enhancements that are under development in MGD to enrich these data sets and their delivery to users.


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