Disease Models & Mechanisms (May 2011)

Technical approaches for mouse models of human disease

  • Monica J. Justice,
  • Linda D. Siracusa,
  • A. Francis Stewart

DOI
https://doi.org/10.1242/dmm.000901
Journal volume & issue
Vol. 4, no. 3
pp. 305 – 310

Abstract

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The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain desired gene mutations by using the following processes: targeted mutations that eliminate function in the whole organism or in a specific tissue; forward genetic screens using chemicals or transposons; or the introduction of exogenous transgenes as DNAs, bacterial artificial chromosomes (BACs) or reporter constructs. The mouse is the only mammal that provides such a rich resource of genetic diversity coupled with the potential for extensive genome manipulation, and is therefore a powerful application for modeling human disease. This poster review outlines the major genome manipulations available in the mouse that are used to understand human disease: natural variation, reverse genetics, forward genetics, transgenics and transposons. Each of these applications will be essential for understanding the diversity that is being discovered within the human population.