公开(公告)号：EP1704778A1

公开(公告)日：2006-09-27

申请号：EP05077830.7

申请日：2005-12-09

申请人： CENTRO DE INGENIERIA GENETICA Y BIOTECNOLOGIA (CIGB)

发明人： Aguiar Santiago, Jorge Agustin ,  Fernandez Masso, Julio Raúl ,  Mendoza Mari, Yssel ,  Vasquez Marcos, Maria Mercedes ,  Cruz Leo, Silian ,  Velazquez Perez, Luis Clodoaldo ,  Herrera Martinez, Luis Saturnino

IPC分类号： A01K67/027 ,  C12N15/85 ,  C12N5/10 ,  C07K14/47

CPC分类号： C12N15/8509 ,  A01K67/0275 ,  A01K2227/105 ,  A01K2267/0356

摘要： The present invention is related with the neurobiology and the transgenic animals, more specifically with obtaining a model to study the SCA2 genetic disease. The genome of one mice line has been modified through the introduction of a DNA segment that contains the necessary information for the synthesis of the human ataxin 2. In particular the invention is related with the transgenic mice F066 and the cellular lines able to express the human sca2 gene under the regulation of its self promoter. The F066 transgenic mice reproduce the features of the disease.
The homozygous transgenic mouse line for the new gene was obtained through matting. This transgenic line is useful to study the mechanism that produce the disease and also will permit to prove new therapeutics that contributes to minimize the clinical symptoms in the patients.

摘要翻译： 本发明涉及神经生物学和转基因动物，更具体地涉及获得研究SCA2遗传病的模型。 一条小鼠系的基因组已通过引入含有合成人ataxin2的必需信息的DNA片段进行修饰。特别地，本发明涉及转基因小鼠F066和能够表达人类的细胞系 sca2基因在其自身启动子的调节下。 F066转基因小鼠复制该疾病的特征。 通过消光获得新基因的纯合转基因小鼠品系。 该转基因系可用于研究产生该疾病的机制，并且还将允许证明有助于最小化患者临床症状的新治疗剂。