Montagutelli X
Unité de Génétique des Mammifères, Institut Pasteur, Paris, France.
J Am Soc Nephrol. 2000 Nov;11 Suppl 16:S101-5.
An increasing number of scientific articles report that the phenotype of a given single gene mutation in mice is modulated by the genetic background of the inbred strain in which the mutation is maintained. This effect is attributable to so-called modifier genes, which act in combination with the causative gene. The modulation of the phenotype can be major, as exemplified in the case of several mouse models of polycystic kidney disease. Because of the existence of inbred strains and the possibility of developing congenic strains, the effect of the genetic background can be analyzed in mice, including the identification of major modifier genes. Furthermore, by transferring a given mutation into different genetic backgrounds, mouse models can be manipulated with the aim of more accurately mimicking specific features of human diseases.
越来越多的科学文章报道，小鼠中给定单基因突变的表型会受到维持该突变的近交系遗传背景的影响。这种效应归因于所谓的修饰基因，它们与致病基因共同起作用。表型的改变可能很大，多囊肾病的几种小鼠模型就是例证。由于存在近交系以及培育同源近交系的可能性，因此可以在小鼠中分析遗传背景的影响，包括鉴定主要修饰基因。此外，通过将给定突变转移到不同的遗传背景中，可以对小鼠模型进行操控，以便更准确地模拟人类疾病的特定特征。
