Mouse Genetic and Phenotypic Resources as Tools for Human Genetics

Abstract

Abstract The laboratory mouse community provides a rich set of data and material resources for scientists. The primary one is the Mouse Genome Informatics resource at the Jackson Laboratory (JL), supplemented by other resources at the JL and elsewhere, including a rich variety of gene expression information often presented in the form of gene expression atlases. Ordering and distribution of mutant and inbred mouse strains is well organised via the International Mouse Strain Resource. Resources such as knockout embryonic stem cells from the International Knockout Mouse Consortium (IKMC) and other nontraditional genetic resources such as the Collaborative Cross, Diversity Outbred and Chromosome Substitution lines are also available via the web. Systematic phenotyping of mouse strains, in particular knockout strains from the IKMC, is a new and developing field with a developing informatics infrastructure, which uses new approaches to data representation via ontologies to integrate data across species and to human disease information. Key Concepts: The laboratory mouse is the premier model organism for studying human disease. There is a rich data infrastructure centred around the Mouse Genome Informatics project at the Jackson Laboratory. Material resources (mouse strains, vector, etc) are also widely available to academic researchers, often at cost price. The new systematic phenotyping projects being developed by the mouse community are developing new informatics infrastructure. The development of new ontological approaches to representing phenotype data have opened up new opportunities to link mouse models to human disease.