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Genotype, Phenotype, and Karyotype Correlation in the XO Mouse Model of Turner Syndrome

机译:特纳综合征的XO小鼠模型中的基因型,表型和核型相关。

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摘要

The murine model for Turner Syndrome is the XO mouse. Unlike their human counterparts, XO mice are typically fertile, and their lack of a second sex chromosome can be transmitted from one generation to the next as an X-linked dominant trait with male lethality. The introduction of an X-linked coat-color marker (tabby) has greatly facilitated the maintenance of this useful mouse strain. XO mice can be produced in large numbers, generation after generation, and rapidly identified on the basis of their sex and coat color. Although this breeding scheme appears to be effective at the phenotype level, its utility has never been conclusively proved at the molecular or cytogenetic levels. Here, we clone and sequence the tabby deletion break point and present a multiplex polymerase chain reaction–based assay for the tabby mutation. By combining the results of this assay with whole-chromosome painting data, we demonstrate that genotype, phenotype, and karyotype all show perfect correlation in the publicly available XO breeding stock. This work lays the foundation for the use of this strain to study Turner Syndrome in particular and the X chromosome in general.
机译:特纳氏综合症的鼠模型是XO小鼠。 XO小鼠不同于人类,它们通常是可育的,并且它们缺乏第二性染色体可以作为具有男性致死力的X连锁显性特征从一代传给下一代。 X连锁的毛色标记(平头)的引入极大地促进了这种有用的小鼠品系的维持。 XO小鼠可以大量生产,一代又一代,并可以根据其性别和毛色快速鉴定。尽管这种育种方案似乎在表型水平上是有效的,但尚未在分子或细胞遗传学水平上最终证明其实用性。在这里,我们克隆并测序了平纹缺失的断裂点,并提出了基于多重聚合酶链反应的平纹突变检测方法。通过将该测定的结果与全染色体绘画数据相结合,我们证明了基因型,表型和核型均在可公开获得的XO育种种群中显示出完美的相关性。这项工作为使用该菌株研究特纳综合症(特别是X染色体)奠定了基础。

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