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首页> 外文期刊>Journal of genetics >Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus
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Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus

机译：BALB / c小鼠中的密集白内障和小眼症（dcm）是由GJA8基因座中的突变引起的

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摘要

A spontaneous mutation in BALB/c mice that causes congenital dense cataract and microphthalmia (dcm) was reported previously. This abnormality was found to be inheritable and the mode of inheritance indicated that this phenotype is due to mutation of an autosomal recessive gene. We performed genetic screen to identify the underlying mutations through linkage analysis with the dcm progenies of F_1 intercross. We identified the region of mutation on chromosome 3 and further mapping and sequence analysis identified the mutation in the GJA8 gene that encodes for connexin 50. The mutation represents a single nucleotide change at position 64 (G to C) that results in a change in the amino acid glycine to arginine at position 22 (G22R) and is identical to the mutation previously characterized as lop10. However, the phenotype of these mice differ from that of lop10 mice and since it is one of the very few genetic models with recessive pattern of inheritance, we propose that dcm mice can serve as a useful model for studying the dynamics and interaction of the gap junction formation in mouse eye development.
机译：先前已报道BALB / c小鼠中的一种自发突变，该突变引起先天性白内障和小眼症（dcm）。发现该异常是可遗传的，并且遗传模式表明该表型是由于常染色体隐性基因的突变引起的。我们进行了遗传筛选，以通过与F_1杂交的dcm后代的连锁分析来鉴定潜在的突变。我们确定了3号染色体上的突变区域，并进一步作图和序列分析确定了编码连接蛋白50的GJA8基因中的突变。该突变代表第64位（G到C）处的单个核苷酸变化，导致核苷酸的变化。位22（G22R）处的氨基酸是甘氨酸到精氨酸，与以前表征为lop10的突变相同。但是，这些小鼠的表型与lop10小鼠的表型不同，并且由于它是极少数具有隐性遗传模式的遗传模型之一，因此我们建议dcm小鼠可以用作研究间隙的动力学和相互作用的有用模型。鼠标眼发育中的结形成。

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