RECOVERY OF INDUCED MUTATIONS FOR X-CHROMOSOME-LINKED MUSCULAR-DYSTROPHY IN MICE
RECOVERY OF INDUCED MUTATIONS FOR X-CHROMOSOME-LINKED MUSCULAR-DYSTROPHY IN MICE
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DOI：
10.1073/pnas.86.4.1292
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发表时间：
1989-02-01
影响因子：
11.1
通讯作者：
CASKEY, CT
中科院分区：
文献类型：
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作者：
CHAPMAN, VM;MILLER, DR;CASKEY, CT
我们使用血浆肌酸磷酸激酶活性水平升高来鉴定小鼠肌肉营养不良表型，并筛选化学诱变剂处理的雄性小鼠的后代，以寻找X染色体相关的肌肉营养不良突变。我们没有成功地在bbbb8000的后代中鉴定这些诱导的肌营养不良突变的杂合载体。然而，我们非常成功地鉴定了特征mdx位点的另外三个等位基因。mdx的这些等位基因是从各种诱变剂处理的雄性中恢复的，它们出现在携带侧标记的X染色体上，使我们能够跟踪遗传杂交中的突变和相应突变种群的发育。这些等位基因被命名为mdx2Cv、mdx3Cv和mdx4Cv。初步数据显示，mdx2Cv和mdx3Cv突变小鼠的肌肉营养不良表型与mdx突变的特征没有太大差异。这些额外的mdx突变扩大了X染色体相关肌营养不良小鼠模型的价值，并可能确定损害肌营养不良蛋白表达的额外突变位点。
We have used elevated levels of plasma creatine phosphokinase activity to identify muscular dystrophy phenotypes in mice and to screen the progeny of chemical mutagen-treated male mice for X chromosome-linked muscular dystrophy mutations. We were not successful in identifying heterozygous carriers of these induced muscular dystrophy mutations in > 8000 progeny. However, we were highly successful in identifying three additional alleles of the characterized mdx locus. These alleles of mdx were recovered from various mutagen-treated males and they occur on an X chromosome that carries flanking markers that allow us to follow the mutations in genetic crosses and in the development of corresponding mutant stocks. These alleles have been designated as mdx2Cv, mdx3Cv, and mdx4Cv. Preliminary data show that mice with mdx2Cv and mdx3Cv mutations have muscular dystrophic phenotypes that do not grossly differ from the characterized mdx mutation. These additional mdx mutations expand the value of mouse models of X chromosome-linked muscular dystrophy and potentially define additional sites of mutations that impair dystrophin expression.