Analysis of Phenotype

Phenotyping of genetically engineered animals is done to provide data and insight about the functions of genes. In academic hypothesis-driven research settings, phenotyping tests are limited to those that answer-specific questions. In large-scale omics (phenomics) programs like the International Mouse Phenotyping Consortium (IMPC), initial or primary phenotyping aims to be unbiased and broadly informative, systematic and standardized, subject to quality assurance (QA) and quality control (QC), and responsive to ongoing assessment and revision. Genetically engineered mice (GEM) or mouse embryonic stem (ES) cell lines, protocols, and data are publicly accessible from these international programs. These resources need to be user-friendly to optimize the utility of GEM models of human disease in translational research. In phenotyping and in other translational research involving animals, pathology is a critical aid to diagnose health problems that can compromise the research, and also is a powerful tool to identify, confirm, and characterize phenotypes, validate translational models, and provide biologically-relevant morphological data in the context of the whole animal. This chapter discusses phenotyping sensu latu, but emphasizes IMPC's 10-year plan to phenotype every protein-coding gene, as well as to develop practical pathology to support phenotyping and other translational research.