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Trends Mol Med. 2006 Jun;12(6):237-40. Epub 2006 May 4.

Down syndrome mouse models are looking up.

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Johns Hopkins University School of Medicine, Department of Physiology and McKusick-Nathans Institute for Genetic Medicine, Biophysics 201, 725 North Wolfe Street, Baltimore, MD 21025, USA.


A new mouse model of Down syndrome (DS) carries a copy of human chromosome 21 (Hsa21), in addition to a full complement of mouse chromosomes. In terms of the number of trisomic genes represented, this model, known as 'Tc1', is closer to the genetic background of DS than any previous model. The Tc1 model not only recapitulates several of the DS features present in other mouse models but also exhibits heart defects that are similar to those that make trisomy 21 the leading cause of congenital heart disease in humans. Many cells in adult Tc1 mice show mosaicism - that is, the Hsa21 is lost from some cells during development - increasing the complexity of analyses using this model. Tc1 mice provide a powerful tool for investigation of the pathogenesis of trisomy 21, and a platform for analysis of similarities and differences in the evolution of gene regulation.

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