Mouse mutants and phenotypes: accessing information for the study of mammalian gene function.

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Cell-Line, Databases-Genetic, Disease-Models-Animal, Embryonic-Stem-Cells, Genes, Genetic-Diseases-Inborn, Humans, Mice-Mutant-Strains, Mutation, Online-Systems, Organ-Specificity, Phenotype, Promoter-Regions-Genetic, Recombinases

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Methods 2011 Apr; 53(4):405-10.

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Recent advances in high-throughput gene targeting and conditional mutagenesis are creating new and powerful resources to study the in vivo function of mammalian genes using the mouse as an experimental model. Mutant ES cells and mice are being generated at a rapid rate to study the molecular and phenotypic consequences of genetic mutations, and to correlate these study results with human disease conditions. Likewise, classical genetics approaches to identify mutations in the mouse genome that cause specific phenotypes have become more effective. Here, we describe methods to quickly obtain information on what mutant ES cells and mice are available, including recombinase driver lines for the generation of conditional mutants. Further, we describe means to access genetic and phenotypic data that identify mouse models for specific human diseases.