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Literature DB >> 16179473

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

Aideen O'Doherty¹, Sandra Ruf, Claire Mulligan, Victoria Hildreth, Mick L Errington, Sam Cooke, Abdul Sesay, Sonie Modino, Lesley Vanes, Diana Hernandez, Jacqueline M Linehan, Paul T Sharpe, Sebastian Brandner, Timothy V P Bliss, Deborah J Henderson, Dean Nizetic, Victor L J Tybulewicz, Elizabeth M C Fisher.

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.

Entities: Chemical

Mesh：

Substances：
Genetic Markers

Year: 2005 PMID： 16179473 PMCID： PMC1378183 DOI： 10.1126/science.1114535

Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 63.714

38 in total

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Journal: Nat Rev Genet Date: 2004-10 Impact factor: 53.242

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Journal: Nat Genet Date: 1997-05 Impact factor: 38.330

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195 in total

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Review 2. Cis-regulatory elements: molecular mechanisms and evolutionary processes underlying divergence.

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Authors: Takashi Makino; Aoife McLysaght
Journal: Proc Natl Acad Sci U S A Date: 2010-05-03 Impact factor: 11.205

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Authors: Katheleen Gardiner; Yann Herault; Ira T Lott; Stylianos E Antonarakis; Roger H Reeves; Mara Dierssen
Journal: J Neurosci Date: 2010-11-10 Impact factor: 6.167

6. The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice.

Authors: Liron Abuhatzira; Alon Shamir; Dustin E Schones; Alejandro A Schäffer; Michael Bustin
Journal: J Biol Chem Date: 2011-10-17 Impact factor: 5.157

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Authors: Ranjie Xu; Andrew T Brawner; Shenglan Li; Jing-Jing Liu; Hyosung Kim; Haipeng Xue; Zhiping P Pang; Woo-Yang Kim; Ronald P Hart; Ying Liu; Peng Jiang
Journal: Cell Stem Cell Date: 2019-05-23 Impact factor: 24.633