Dmd-Q995X

品系全名

C57BL/6JSmo-Dmdem1(Q995X)Smoc

目录号

NM-KI-18026

品系状态

活体

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基因信息

基因名
Dmd

品系描述

也叫mdx。X-染色体上的肌营养不良蛋白基因(Dmd)在肌肉细胞中高度表达并编码细胞骨架蛋白,其定位于肌纤维膜的内表面。抗肌萎缩蛋白分子与细胞骨架F-肌动蛋白和跨膜β-肌营养不良蛋白结合,作为复杂的多分子单元的一部分,其介导细胞内细胞骨架和细胞外基质之间的信号传导。该基因的结构和定位还表明肌营养不良蛋白对于稳定质膜是重要的,尤其是在收缩期间。该Dmd基因突变小鼠模型不表达肌营养不良蛋白,可用于研究杜兴肌营养不良症。纯合子小鼠由雌性(mdx/mdx) 纯合突变小鼠于雄性 (mdx/Y) 杂合突变小鼠交配获得。
应用领域:肌营养不良症

疾病预测

杜兴肌营养不良症
Duchenne Muscular Dystrophy

验证数据

dmd-1.png

图1 Western blot 检测小鼠肌肉和心脏中Dystrophin的表达。点突变小鼠中检测不到 Dystrophin,而在野生型小鼠中可以检测到,说明该点突变造成了Dystrophin蛋白不表达。

mdx.png

图2 HE染色显示MDX小鼠(雄性,6月龄)骨骼肌肌间隙变宽,肌纤维大小不一,细胞核聚集,炎性细胞浸润。

mdx-2.png

图3 MDX小鼠的肢体抓力测试。

通过握力计(BIO-G53,Bioseb,France)进行MDX小鼠(雄性,6月龄)肢体强度的评估。 使MDX小鼠抓住拉杆然后轻轻向后拉,在失去抓地力之前施加到杆上的力被记录为峰值阻力(以克表示)。


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