Transcriptome profiling in knock-in mouse models of Huntington's disease (cerebellum_mRNA).

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that is characterized by motor, cognitive, and psychiatric alterations. The mutation responsible for this disease is an abnormally expanded and unstable CAG repeat within the coding region of the gene encoding huntingtin (Htt). Knock-in mouse models of HD with human exon 1 containing expanded CAG repeats inserted in the murine huntingtin gene (Hdh) provide a genetic reconstruction of the human causative mutation within the mouse model. The goal of this study is RNA expression profiling by RNA sequencing (RNA-seq) in 6 and 10 month old knock-in mice with CAG lengths of 20, 50, 92, 140 along with littermate control wild-type animals mRNA expression profiles were obtained via RNA-seq analysis performed on samples from the Cerebellum tissue of 6 and 10 month old knock-in mice with CAG lengths of 20, 50, 92, 140 along with littermate control wild-type animals.亨廷顿舞蹈病（Huntington's disease, HD）是一种常染色体显性遗传性神经退行性疾病，以运动、认知及精神异常为典型特征。引发该病的致病突变为亨廷顿蛋白（huntingtin, Htt）编码基因的编码区中异常扩增且不稳定的CAG三核苷酸重复序列。将携带有扩增CAG重复序列的人类外显子1插入小鼠亨廷顿基因（Hdh）所构建的HD敲入小鼠模型，可在小鼠体内重现人类致病突变的遗传背景。本研究的目标为：通过RNA测序（RNA-seq）分析6月龄和10月龄、携带CAG重复长度分别为20、50、92、140的敲入小鼠及其同窝野生型对照小鼠的小脑组织样本，以获取其mRNA表达谱。