The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse model

作者: Renita C. Polk , Peter Gergics , Jeffrey D. Steimle , Huiqing Li , Ivan P. Moskowitz

DOI: 10.1186/S12861-015-0080-Y

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摘要: Background Nearly half of all individuals with Down Syndrome (DS) have some type congenital heart defect (CHD), suggesting that DS sensitizes to CHD but does not cause it. We used a common mouse model DS, the Ts65Dn mouse, study contribution Tbx5, known modifier CHD, defects on trisomic backgroun. Mice were heterozygous for Tbx5 null allele crossed mice. Thoraxes progeny fixed in 10% formalin, embedded paraffin, and sectioned analysis CHD. Gene expression embryonic hearts was examined by quantitative PCR situ hybridization. A TBX5 DNA binding site verified luciferase assays.

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