Sarcospan-deficient mouse as a model for clinical disorders associated with sarcospan mutations
    1.
    发明授权
    Sarcospan-deficient mouse as a model for clinical disorders associated with sarcospan mutations 失效
    作为与谷氨酸突变相关的临床疾病的模型的萨哥斯坦缺陷型小鼠

    公开(公告)号:US06207878B1

    公开(公告)日:2001-03-27

    申请号:US09422762

    申请日:1999-10-21

    IPC分类号: A01K67027

    摘要: Disclosed is a transgenic knockout mouse whose genome has a homozygous disruption in its endogenous sarcospan gene, wherein the disruption prevents the synthesis of functional sarcospan in cells of the mouse. The mouse is characterized as exhibiting from 1.4 to 6.8 fold larger epididymal fat pad deposits as compared to the epididymal fat pad deposits of a wild type mouse. Methods for production of the mouse are presented. Also disclosed are cells derived from the transgenic knockout mouse. The mouse can be used in a method for identifying therapeutic agents for the treatment of an individual diagnosed with a metabolic disorder associated with a reduction or loss of expression of wild-type sarcospan. An example of such a disorder is weight gain in the individual associated with a reduction or loss of expression of wild-type sarcospan. These specific methods are also provided.

    摘要翻译: 公开了一种转基因敲除小鼠,其基因组在其内源性脊液螺旋体基因中具有纯合性破坏,其中该破坏阻止了小鼠细胞中功能性谷氨酸的合成。 与野生型小鼠的附睾脂肪垫沉积物相比,小鼠的特征在于表现出1.4至6.8倍的附睾脂肪垫沉积物。 介绍了生产小鼠的方法。 还公开了衍生自转基因敲除小鼠的细胞。 该小鼠可用于鉴定用于治疗被诊断患有与野生型脊索动物的表达减少或丧失相关的代谢紊乱的个体的治疗剂的方法。 这种疾病的一个例子是与野生型脊索动物的表达减少或丧失相关的个体体重增加。 还提供了这些具体方法。