Nave K A
Zentrum für Molekulare Biologie, Universität Heidelberg, Germany.
J Neurosci Res. 1994 Aug 15;38(6):607-12. doi: 10.1002/jnr.490380602.
The prospect to create mouse mutants of virtually any cloned gene has renewed interest in the genetic analysis of mammalian brain development. A diverse group of spontaneous and engineered mouse mutants, characterized by a defect of myelin formation, has been intensively studied from the morphological to the molecular level. In this system, genetics has been successfully applied to analyze a corresponding set of membrane proteins which help to elaborate a defined structural entity, compact myelin. Shiverer, jimpy, Trembler, and protein zero (P0)-deficient mice demonstrate the overall function of myelination and have become models for human neurological diseases. They also illustrate some of the problems encountered in defining protein functions from complex mutant phenotypes.
创建几乎任何克隆基因的小鼠突变体的前景,重新激发了人们对哺乳动物大脑发育遗传分析的兴趣。一组以髓鞘形成缺陷为特征的自发和工程改造的小鼠突变体,已从形态学水平到分子水平进行了深入研究。在这个系统中,遗传学已成功应用于分析一组相应的膜蛋白,这些膜蛋白有助于构建一个明确的结构实体——紧密髓鞘。颤抖鼠、跳跃鼠、震颤鼠和蛋白零(P0)缺陷小鼠展示了髓鞘形成的整体功能,并已成为人类神经疾病的模型。它们还说明了从复杂的突变表型定义蛋白质功能时遇到的一些问题。