Human Disease: Mouse Models


Modelling human disease states or aspects of the disease process in animals has proven extremely valuable in furthering our understanding of specific illnesses, as well as in designing intervention therapies. Increasingly, the mouse is becoming the organism of choice for such studies.

Keywords: mutants; animal models; transgenic mice; knockout mice; disease models

Figure 1.

Transgenic mice production. The steps involved in the generation of transgenic mice through the microinjection of single‐celled mouse embryos. Adapted from Popko (1999).

Figure 2.

Homologous recombination of a gene targeting vector. Diagram of a gene targeting event. HSV‐tk, herpes simplex virus thymidine kinase; NEO, neomycin. Adapted from Popko (1999).

Figure 3.

Gene targeting in embryonic stem (ES) cells. The steps involved in the generation of mutant animals through the use of gene targeting approach in ES cells. Adapted from Popko (1999).


Further Reading

Bedell MA, Largaespada DA, Jenkins NA and Copeland NG (1997) Mouse models of human disease. Part II: Recent progress and future directions. Genes and Development 11: 11–43.

Capecchi MR (1994) Targeted gene replacement. Scientific American 270: 52–59.

Lyon MF and Searle AG (1990) Genetic Variants and Strains of the Laboratory Mouse. New York: Oxford University Press.

Palmiter RD and Brinster RL (1986) Germ‐line transformation of mice. Annual Review of Genetics 20: 465–499.

Popko B (1999) Mouse Models in the Study of Genetic Neurological Disorders. New York: Kluwer/Plenum.

Saez E, No D, West A and Evans RM (1997) Inducible gene expression in mammalian cells and transgenic mice. Current Opinion of Biotechnology 5: 608–616.

Sauer B (1994) Site‐specific recombination: developments and applications. Current Opinion of Biotechnology 5: 521–527.

Silver LM (1995) Mouse Genetics: Concepts and Applications. New York: Oxford University Press.

Smithies O (1993) Animal models of human genetic diseases. Trends in Genetics 9: 112–116.

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How to Cite close
Popko, Brian(Jan 2003) Human Disease: Mouse Models. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0000993]