Molecular and behavioral analysis of transgenic mice of Angelman syndrome gene, Ube3a

为了解决UBE3A在大脑发育中的作用，我们在大鼠烯醇化酶2，γ，神经元（Eno2）启动子的控制下，产生了表达全长UBE3A cDNA的转基因UBE3A小鼠。过表达ube3a的转基因小鼠表型正常。纹状体神经元的转基因表达部分挽救了AS模型小鼠焦虑相关行为和社会互动的神经行为表型。

To address the role of UBE3A in brain development, we generated transgenic UBE3A mice expressing a full length UBE3A cDNA under control of the rat enolase 2, gamma, neuronal(Eno2) promoter. UBE3A-overexpressing transgenic mice showed normal phenotype. Neurobehavioral phenotypes in anxiety-related behaviors and social interactions of AS model mice were partially rescued by transgene expression in striatum neurons.