Mouse genetic and phenotypic resources for human genetics

Hum Mutat. 2012 May;33(5):826-36. doi: 10.1002/humu.22077.


The use of model organisms to provide information on gene function has proved to be a powerful approach to our understanding of both human disease and fundamental mammalian biology. Large-scale community projects using mice, based on forward and reverse genetics, and now the pan-genomic phenotyping efforts of the International Mouse Phenotyping Consortium, are generating resources on an unprecedented scale, which will be extremely valuable to human genetics and medicine. We discuss the nature and availability of data, mice and embryonic stem cells from these large-scale programmes, the use of these resources to help prioritize and validate candidate genes in human genetic association studies, and how they can improve our understanding of the underlying pathobiology of human disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Databases, Genetic
  • Embryonic Stem Cells / cytology
  • Embryonic Stem Cells / metabolism
  • Genetic Association Studies
  • Genome
  • Genome-Wide Association Study
  • Humans
  • International Cooperation
  • Mice / genetics*
  • Mice, Knockout
  • Models, Animal*
  • Phenotype*
  • Reverse Genetics