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首页> 外文期刊>Genomics >Intraspecific mating with CzechII/Ei mice rescue lethality associated with loss of function mutations of the imprinted genes, Igf2r and Cdkn1c.
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Intraspecific mating with CzechII/Ei mice rescue lethality associated with loss of function mutations of the imprinted genes, Igf2r and Cdkn1c.

机译:与CzechII / Ei小鼠的种内交配可挽救与印迹基因Igf2r和Cdkn1c的功能突变丧失相关的致死性。

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摘要

Maternal inheritance of targeted loss of function alleles encoding either the cyclin-dependent kinase inhibitor 1C (Cdkn1c) or the insulin-like growth factor 2 receptor (Igf2r) leads to fully penetrant perinatal lethality in C57BL/6J mice due to genomic imprinting. Here, we demonstrate that there is a marked enhancement in postnatal viability of F(1) mice carrying either the ablated Igf2r ( approximately 32%) or Cdkn1c ( approximately 83%) when the paternal genome was derived from the inbred Mus musculus musculus CzechII/Ei strain. Genetic and molecular analyses indicated that the increased viability was not caused by relaxation of imprinted gene expression, but is the consequence of unidentified polygenic modifiers that are not imprinted. In the course of this study, restriction-site polymorphisms between 129S1 and CzechII/Ei in 21 imprinted and 14 biallelically expressed genes were identified. These polymorphisms may prove useful in determining the effects of different mutant backgrounds on genomic imprinting.
机译:编码细胞周期蛋白依赖性激酶抑制剂1C(Cdkn1c)或胰岛素样生长因子2受体(Igf2r)的目标功能缺失等位基因的母源遗传导致C57BL / 6J小鼠因基因组印迹而完全穿透围产期致死性。在这里,我们证明,当父系基因组来自近亲小家鼠捷克II /时,携带消融的Igf2r(大约32%)或Cdkn1c(大约83%)的F(1)小鼠的出生后生存能力显着增强。 Ei株。遗传和分子分析表明,增加的生存力不是由印迹基因表达的松弛引起的,而是未鉴定的未鉴定的多基因修饰子的结果。在这项研究的过程中,确定了21个印迹和14个双烯丙基表达基因中129S1和CzechII / Ei之间的限制性位点多态性。这些多态性可能被证明可用于确定不同突变体背景对基因组印迹的影响。

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