Mouse as a Model for Human Diseases

Steve David, MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, UK
Macleod Brown, MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, UK

Published online: January 2006

DOI: 10.1038/npg.els.0005577

The mouse is a key organism for the study of mammalian development, physiology and biochemistry and therefore an important model for the study of human disease. Mouse strains and mutants are important tools for dissecting the genetic pathways involved with human genetic disease.

Keywords: mouse genetics; comparative mapping; mutagenesis; usher syndrome; neuromuscular disease; neurological disease

Figure 1. Comparative mapping identifies the mouse shaker1 (sh1) deafness mutation as a model for the deaf–blind syndrome, Usher type 1b (USH1B). The shaker1 mutation maps to a region of mouse chromosome 7 that is conserved in terms of gene content and gene order with human chromosome region 11q13–q14. Usher syndrome type 1b maps to 11q13–q14 suggesting that shaker1 and Usher type 1b are homologous disease mutations. The gene for myosin VIIA was found to be the gene underlying the shaker1 mutation and thus a candidate for Usher syndrome type 1b.
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 References
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    Bedell MA, Jenkins NA and Copeland NG (1996) Mouse models of human disease. Part I: techniques and resources for genetic analysis in mice. Genes and Development 11: 1–10.
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    Brown SDM and Balling R (2001) Systematic approaches to mouse mutagenesis. Current Opinion in Genetics and Development 11: 268–273.
    book Steel KP, Self TJ, Liu X-Z, Avraham KB and Brown SDM (2000) "Of mice and men (and myosins)". In: Berlin CJ and Keats B (eds.) Proceedings of the Fifth Annual Kresge–Mirmelstein Symposium, Genetics and Hearing Loss, pp. 1–30. San Diego, CA: Singular Publishing
    Winter RM (1998) Animal models for dysmorphology. Current Opinion in Genetics and Development 8: 293–297.
 Web Links
    ePath Mouse Genome Informatics http://www.informatics.jax.org
    ePath Huntingtin (Huntington disease) (HD); Locus ID: 3064. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3064
    ePath Myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) (MYO7A); Locus ID: 4647. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4647
    ePath Huntingtin (Huntington disease) (HD); MIM number: 143100. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?143100
    ePath Myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) (MYO7A); MIM number: 276903. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?276903

Related Sub-Topics:

Model Organisms and Human Disease | Techniques and Tools in Clinical Genetics | Gene Mapping by Disease Association | Genetic Models
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Article Title: Mouse as a Model for Human Diseases
 
How to Cite close
David, Steve, and Brown, Macleod(Jan 2006) Mouse as a Model for Human Diseases. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005577]