MGI Alleles and Phenotypes

The Phenotypes, Alleles & Disease Models project in MGI enables comparative phenotype analysis, searches for human disease models, and hypothesis generation by providing access to spontaneous, induced, and genetically engineered mutations and their strain-specific phenotypes.

This track data is updated weekly every Monday.

Phenotypes

Phenotypes are the manifestation of an individual's genotype in its environment. In the most straightforward case, phenotypic effects of allelic mutations are observed in relation to a control strain background; and the environment within the observing laboratory is considered constant.

Complications quickly expand when considering complex, multi-genic mutations, conditional and tissue-specific allele ablation, the combination of mutations in multiple genes in a single animal, the use of multiple strain backgrounds on which mutations are created and/or transferred, and the experimental application of additional environmental variables that can heighten or lessen phenotypic outcome. To maximize the usefulness of these complex data, phenotypes in MGI are associated with specific genotypes (combinations of allelic mutations on specific genetic backgrounds).

Phenotypes are described in MGI using the Mammalian Phenotype Ontology, a structured vocabulary that allows consistent annotation of mouse genotypes with standard phenotype terminology and associates each piece of phenotypic data with its source (e.g., published literature, large-scale mutagenesis centers, individual research laboratories).

Credits

All data and analysis is provided by MGI. This information is also available on informatics.jax.org or for a complete data download please see http://www.informatics.jax.org/downloads/reports/index.html.

Hub data is maintained by Paul Hale(Paul.Hale@jax.org). Please email with any questions over this hub or the data herein.

Reference