Interpretation of phenotype in genetically engineered mice.
Interpretation of phenotype in genetically engineered mice.
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发表时间：
1999-04
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通讯作者：
Thomas Doetschman
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作者：
Thomas Doetschman
背景和目的在小鼠中，基因工程包括两种一般的方法--添加外源基因，产生转基因小鼠，和使用敲除小鼠，其具有内源基因的靶向突变。这些方法的优点是，可以询问有关活的哺乳动物生物体中特定基因的功能的问题，同时考虑到正常、疾病、损伤和应激情况下细胞、组织和器官之间的相互作用。方法回顾主要集中在基因敲除小鼠的文献和意外的表型，缺乏表型，冗余，和遗传背景对表型的影响的问题将进行讨论。结论哺乳动物中基因冗余很少;敲除表型即使没有立即明显的表型也存在;在混合遗传背景的群体中研究表型不仅可以揭示更多的表型，而且可以更好地理解表型背后的分子或细胞机制，并发现修饰基因。
BACKGROUND AND PURPOSE In mice, genetic engineering involves two general approaches-addition of an exogenous gene, resulting in transgenic mice, and use of knockout mice, which have a targeted mutation of an endogenous gene. The advantages of these approaches is that questions can be asked about the function of a particular gene in a living mammalian organism, taking into account interactions among cells, tissues, and organs under normal, disease, injury, and stress situations. METHODS Review of the literature concentrating principally on knockout mice and questions of unexpected phenotypes, lack of phenotype, redundancy, and effect of genetic background on phenotype will be discussed. CONCLUSION There is little gene redundancy in mammals; knockout phenotypes exist even if none are immediately apparent; and investigating phenotypes in colonies of mixed genetic background may reveal not only more phenotypes, but also may lead to better understanding of the molecular or cellular mechanism underlying the phenotype and to discovery of modifier gene(s).