期刊
SCIENCE
卷 309, 期 5743, 页码 2033-2037出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1114535
关键词
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资金
- Medical Research Council [MC_U117512674] Funding Source: Medline
- Wellcome Trust [076700] Funding Source: Medline
- Medical Research Council [MC_U117512674] Funding Source: researchfish
- MRC [MC_U117512674] Funding Source: UKRI
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, TO, 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 aneupioidies.
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