Mouse genetic and phenotypic resources for human genetics

Paul N. Schofield, Robert Hoehndorf, Georgios V. Gkoutos

Research output: Contribution to journalArticlepeer-review

48 Citations (SciVal)


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 (IMPC), 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 ES cells from these large-scale programmes, the use of these resources to help prioritise and validate candidate genes in human genetic association studies, and how they can improve our understanding of the underlying pathobiology of human disease.
Original languageEnglish
Pages (from-to)826-836
Number of pages11
JournalHuman Mutation
Issue number5
Early online date13 Apr 2012
Publication statusPublished - May 2012


  • mouse
  • genetics
  • phenotyping
  • human
  • ontology
  • GWAS
  • CNV
  • database


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