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Science. 2005 Sep 23;309(5743):2033-7.

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes.

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  • 1Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

Abstract

Aneuploidies are common chromosomal defects that result in growth and developmental deficits and high levels of lethality in humans. To gain insight into the biology of aneuploidies, we manipulated mouse embryonic stem cells and generated a trans-species aneuploid mouse line that stably transmits a freely segregating, almost complete human chromosome 21 (Hsa21). This "transchromosomic" mouse line, Tc1, is a model of trisomy 21, which manifests as Down syndrome (DS) in humans, and has phenotypic alterations in behavior, synaptic plasticity, cerebellar neuronal number, heart development, and mandible size that relate to human DS. Transchromosomic mouse lines such as Tc1 may represent useful genetic tools for dissecting other human aneuploidies.

Comment in

PMID:
16179473
[PubMed - indexed for MEDLINE]
PMCID:
PMC1378183
Free PMC Article

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