X-CHROMOSOME-LINKED MUSCULAR-DYSTROPHY (MDX) IN THE MOUSE

X-CHROMOSOME-LINKED MUSCULAR-DYSTROPHY (MDX) IN THE MOUSE
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DOI：
10.1073/pnas.81.4.1189
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发表时间：
1984-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
通讯作者：
MOORE, KJ
MOORE, KJ
中科院分区：
其他
文献类型：
--
作者：
BULFIELD, G;SILLER, WG;MOORE, KJ

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一个X染色体连锁的小鼠突变体(基因符号，MDX)被发现具有高水平的肌肉肌酸激酶和丙酮酸激酶水平，并表现出肌肉营养不良的组织学损害特征。突变株表现出轻微的临床症状，并具有活力和繁殖力。与4个X染色体座位的连锁分析表明，MDX定位于小鼠X染色体的HQ BPA区域。这给出了MDX-TFM-PGK-1-AGS的基因顺序，与人类X染色体上的等值基因相同。
An X chromosome-linked mouse mutant (gene symbol, mdx) was found that has elevated plasma levels of muscle creatine kinase and pyruvate kinase and exhibits histological lesions characteristic of muscular dystrophy. The mutants show mild clinical symptoms and are viable and fertile. Linkage analysis with 4 X chromosome loci indicates that mdx maps in the Hq Bpa region of the mouse X chromosome. This gives a gene order of mdx-Tfm-Pgk-1-Ags, the same as for the equivalent genes on the human X chromosome.