Mouse as a Model for Human Diseases

Abstract

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.

close

References

Gibson F, Walsh J, Mburu P, et al. (1995) A type VII myosin encoded by the mouse deafness gene shaker‐1. Nature 374: 62–64.

Hrabéde Angelis M, Flaswinkel H, Fuchs H, et al. (2000) Genome‐wide, large‐scale production of mutant mice by ENU mutagenesis. Nature Genetics 25: 444–447.

Mangiarini L, Sathasivam K, Seller M, et al. (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87: 493–506.

Nadeau JH, Balling R, Barsh G, et al. (2001) Functional annotation of mouse genome sequences. Science 291: 1251–1253.

Nolan PM, Peters J, Strivens M, et al. (2000) A systematic, genome‐wide, phenotype‐driven mutagenesis program for gene function studies in the mouse. Nature Genetics 25: 440–443.

Nusbaum C, Slonim DK, Harris KL, et al. (1999) A YAC‐based physical map of the mouse genome. Nature Genetics 22: 388–393.

Plagge A, Kelsey G and Allen ND (2000) Directed mutagenesis in embryonic stem cells. In: Jackson IJ and Abbott CM (eds.) Mouse Genetics and Transgenics, pp. 247–284. New York, NY: Oxford University Press

Sicinski P, Geng Y, Ryder‐Cook AS, et al. (1989) The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 244: 1578–1580.

Tinsley JM, Deconinck N, Fisher R, et al. (1998) Expression of full length utrophin prevents muscular dystrophy in mdx mice. Nature Medicine 4: 1441–1444.

Waterson RH, Lindblad‐Toh K, Birney E, et al. (2002) Initial sequencing and comparative analysis of the mouse genome. Nature 420: 520–562.

Weil D, Blanchard S, Kaplan J, et al. (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374: 60–62.

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 http://www.informatics.jax.org

Huntingtin (Huntington disease) (HD); Locus ID: 3064. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3064

Myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) (MYO7A); Locus ID: 4647. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4647

Huntingtin (Huntington disease) (HD); MIM number: 143100. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?143100

Myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) (MYO7A); MIM number: 276903. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?276903

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

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]