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An Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes

2005; American Association for the Advancement of Science; Volume: 309; Issue: 5743 Linguagem: Inglês

10.1126/science.1114535

1095-9203

Aideen O’Doherty, Sandra Ruf, Claire Mulligan, Victoria Hildreth, Mick L. Errington, Samuel F. Cooke, Abdul Karim Sesay, Sonie Modino, Lesley Vanes, Diana Hernandez, Jacqueline M. Linehan, Paul T. Sharpe, Sebastian Brandner, Timothy V. P. Bliss, Deborah J. Henderson, Dean Nižetić, Victor L. J. Tybulewicz, Elizabeth Fisher,

Prenatal Screening and Diagnostics

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.