Evaluation between Cbr1 copy number resumpsion and several abnormalities in Ts1Cje; a model for Down syndrome

本研究旨在评估位于DS临界区的Cbr1基因拷贝数恢复是否可以挽救DS模型小鼠Ts1Cje的表型。我们制备并分析了仅Cbr1基因恢复到正常表达水平的Ts1Cje/Cbr1(+/+/-)小鼠。我们发现Cbr1基因并不直接参与Ts1Cje的体重减轻、多动和脑室扩大。然而，它在Ts1Cje学习和记忆缺陷或氧化应激增加中的可能含义仍然难以捉摸。我们应该继续评估基因拷贝数的恢复及其对Ts1Cje异常的挽救潜力。

The present study was designed to evaluate whether the copy number resumption of Cbr1 gene located on DS critical region might rescue phenotypes seen in Ts1Cje:a model mouse for DS. We prepared and analyzed the Ts1Cje/Cbr1(+/+/-) mice in which Cbr1 gene only is set back to a normal expression level. We found that Cbr1 gene was not directly involved in neither decreasing of Body weight, hyper activity and ventricular enlargement in Ts1Cje. However, its possible implication in learning and memory deficit or oxidative stress increase in Ts1Cje remains elusive. We should continue our assessment of gene copy number resumption and their potential rescue of Ts1Cje abnormalities.