Characterization of the cardiac phenotype in neonatal Ts65Dn mice.
Characterization of the cardiac phenotype in neonatal Ts65Dn mice.
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新生 Ts65Dn 小鼠心脏表型的表征。
DOI：
10.1002/dvdy.21416
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发表时间：
2008
期刊：
影响因子：
--
通讯作者：
Moore,ClaraS
中科院分区：
文献类型：
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作者：
Williams,AustinD;Mjaatvedt,CoreyH;Moore,ClaraS
Ts 65 Dn小鼠是唐氏综合征研究最多的鼠模型。三重鼠基因和人类21号染色体上的基因之间的同源性与Ts 65 Dn小鼠和唐氏综合征患者的共同异常相关，包括先天性心脏缺陷。致死性与T65 Dn染色体的遗传有关，在三体新生儿中发现了右主动脉弓伴Kommerell憩室和主动脉弓中断等异常。在三体人群中，大体血管异常的发生率为17%。组织学分析显示室间隔缺损和宽卵圆孔，而免疫组化显示三体新生儿心脏瓣膜的肌肉成分异常。这些发现证实了Ts 65 Dn中存在的基因失衡破坏了心脏发育过程中的关键途径。因此，Ts 65 Dn小鼠中104个三联基因中的先天性心脏缺陷的候选基因与该模型中正常心源性途径的失调有关。发展动力学237：426-435，2008年。© 2007 Wiley利斯公司
The Ts65Dn mouse is the most‐studied of murine models for Down syndrome. Homology between the triplicated murine genes and those on human chromosome 21 correlates with shared anomalies of Ts65Dn mice and Down syndrome patients, including congenital heart defects. Lethality is associated with inheritance of the T65Dn chromosome, and anomalies such as right aortic arch with Kommerell's diverticulum and interrupted aortic arch were found in trisomic neonates. The incidence of gross vascular abnormalities was 17% in the trisomic population. Histological analyses revealed interventricular septal defects and broad foramen ovale, while immunohistochemistry showed abnormal muscle composition in the cardiac valves of trisomic neonates. These findings confirm that the gene imbalance present in Ts65Dn disrupts crucial pathways during cardiac development. The candidate genes for congenital heart defects that are among the 104 triplicated genes in Ts65Dn mice are, therefore, implicated in the dysregulation of normal cardiogenic pathways in this model. Developmental Dynamics 237:426–435, 2008. © 2007 Wiley‐Liss, Inc.