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小鼠基因组中印迹基因座处的转基因插入突变。

A transgene insertional mutation at an imprinted locus in the mouse genome.

作者信息

DeLoia J A, Solter D

机构信息

Wistar Institute of Anatomy and Biology, Philadelphia, PA 19104.

出版信息

Dev Suppl. 1990:73-9.

PMID:2090433
Abstract

Genetic imprinting in mice results in functional differences in the oocyte and spermatocyte genomes, as evidenced by both genetic and pronuclear transfer experiments. To gain insights into the molecular mechanisms involved in the imprinting process, researchers have studied methylation phenotypes and expression of hemizygous transgenes associated with parental origin. In this report, we describe a transgenic mouse lineage in which expression of both the transgene and an endogenous gene at the insertion site are determined by the parent of origin. The mutation caused by transgene insertion shows variable expressivity and incomplete penetrance in addition to a modified dominant pattern of inheritance.

摘要

小鼠中的基因印记导致卵母细胞和精母细胞基因组出现功能差异,遗传实验和原核移植实验均证明了这一点。为深入了解印记过程涉及的分子机制,研究人员研究了与亲本来源相关的半合子转基因的甲基化表型和表达。在本报告中,我们描述了一个转基因小鼠品系,其中转基因和插入位点处的一个内源基因的表达均由亲本来源决定。转基因插入引起的突变除了具有修饰的显性遗传模式外,还表现出可变的表达率和不完全的外显率。

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