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

Lookup NU author(s): Dr Victoria Hildreth, Professor Deborah HendersonORCiD


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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.

Publication metadata

Author(s): O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, Sesay A, Modino S, Vanes L, Hernandez D, Linehan JM, Sharpe PT, Brandner S, Bliss TVP, Henderson DJ, Nizetic D, Tybulewicz VLJ, Fisher EMC

Publication type: Article

Publication status: Published

Journal: Science

Year: 2005

Volume: 309

Issue: 5743

Pages: 2033-2037

Print publication date: 23/09/2005

ISSN (print): 0036-8075

ISSN (electronic): 1095-9203

Publisher: American Association for the Advancement of Science


DOI: 10.1126/science.1114535

PubMed id: 16179473


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Funder referenceFunder name
076700Wellcome Trust
MC_U117512674Medical Research Council