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

BMC developmental biology | 2015

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

Pubmed ID: 26208718 RIS Download

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Associated grants

  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL124836
  • Agency: NHLBI NIH HHS, United States
    Id: R01HL083300
  • Agency: NIGMS NIH HHS, United States
    Id: T32 GM007814
  • Agency: NICHD NIH HHS, United States
    Id: R01 HD034283
  • Agency: NHLBI NIH HHS, United States
    Id: T32 HL007381
  • Agency: NICHD NIH HHS, United States
    Id: R01HD038384
  • Agency: NICHD NIH HHS, United States
    Id: R01 HD34283
  • Agency: NICHD NIH HHS, United States
    Id: R01 HD038384
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL083300
  • Agency: NIGMS NIH HHS, United States
    Id: T32 GM007183

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