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Disease models

Of mice and men

Nature Reviews Genetics volume 6, page 803 (2005)Cite this article

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Previous attempts to model Down syndrome in mice have involved either introducing individual human transgenes or creating trisomies of mouse chromosomes. The one-gene-at-a-time approach does not correctly model the 3:2 gene dosage that is found in trisomy, and the mouse trisomies are only approximations to the human condition because genes that lie on human chromosome 21 lie on several mouse chromosomes.

Using injection into female mouse embryonic stem cells, the authors created an aneuploid strain that contains 92% of the gene content of human chromosome 21. The strain had several characteristics of Down syndrome such as heart defects and decreases in long-term synaptic potentiation and memory, neuronal density and T-lymphocyte activation, but only minor facial defects.

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References

ORIGINAL RESEARCH PAPER

  1. O'Doherty, A. et al. An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309, 2033–2037 (2005)

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FURTHER READING

  1. Antonarakis, S. E. et al. Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nature Rev. Genet. 5, 725–738 (2004)

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  2. Patterson, D. & Costa, A. C. S. Down syndrome and genetics — a case of linked histories. Nature Rev. Genet. 6, 137–147 (2005)

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Authors
  1. Patrick Goymer
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Goymer, P. Of mice and men. Nat Rev Genet 6, 803 (2005). https://doi.org/10.1038/nrg1741

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  • DOI: https://doi.org/10.1038/nrg1741

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