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

Mouse genetic and phenotypic resources for human genetics.

Author information

1
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, United Kingdom. PS@mole.bio.cam.ac.uk

Abstract

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.

PMID:
22422677
PMCID:
PMC3473354
DOI:
10.1002/humu.22077
[Indexed for MEDLINE]
Free PMC Article

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