Mouse as a Model for Human Diseases


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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Further Reading

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.

Bedell MA, Largaaespada DA, Jenkins NA and Copeland NG (1996) Mouse models of human disease. Part II: recent progress and future directions. Genes and Development 11: 11–43.

Brown SDM (1996) Mouse genome. Meyers RA (ed.) Encyclopedia of Molecular Biology and Molecular Medicine, vol. 4, pp. 120–128. New York, NY: VCH

Brown SDM and Balling R (2001) Systematic approaches to mouse mutagenesis. Current Opinion in Genetics and Development 11: 268–273.

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

Mouse Genome Informatics

Huntingtin (Huntington disease) (HD); Locus ID: 3064. LocusLink:

Myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) (MYO7A); Locus ID: 4647. LocusLink:

Huntingtin (Huntington disease) (HD); MIM number: 143100. OMIM:‐post/Omim/dispmim?143100

Myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) (MYO7A); MIM number: 276903. OMIM:‐post/Omim/dispmim?276903

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David, Steve, and Brown, Macleod(Jan 2006) Mouse as a Model for Human Diseases. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005577]