An Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes-Reference-Cited by-同舟云学术

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

Published:2005-09-23 Issue:5743 Volume:309 Page:2033-2037
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

O'Doherty Aideen¹²³⁴⁵,Ruf Sandra¹²³⁴⁵,Mulligan Claire¹²³⁴⁵,Hildreth Victoria¹²³⁴⁵,Errington Mick L.¹²³⁴⁵,Cooke Sam¹²³⁴⁵,Sesay Abdul¹²³⁴⁵,Modino Sonie¹²³⁴⁵,Vanes Lesley¹²³⁴⁵,Hernandez Diana¹²³⁴⁵,Linehan Jacqueline M.¹²³⁴⁵,Sharpe Paul T.¹²³⁴⁵,Brandner Sebastian¹²³⁴⁵,Bliss Timothy V. P.¹²³⁴⁵,Henderson Deborah J.¹²³⁴⁵,Nizetic Dean¹²³⁴⁵,Tybulewicz Victor L. J.¹²³⁴⁵,Fisher Elizabeth M. C.¹²³⁴⁵

Affiliation:

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

2. Medical Research Council Prion Unit, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

3. National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.

4. Centre for Haematology, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine, 4 Newark Street, London E1 2AT, UK.

5. Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, 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 âtranschromosomicâ 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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference42 articles.

1. Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

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4. The Critical Region in Trisomy 21

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