Popko B, Puckett C, Lai E, Shine H D, Readhead C, Takahashi N, Hunt S W, Sidman R L, Hood L
Cell. 1987 Feb 27;48(4):713-21. doi: 10.1016/0092-8674(87)90249-2.
Mice homozygous for the mutation myelin deficient (mld), an allele of shiverer, exhibit decreased CNS myelination, tremors, and convulsions of progressively increasing severity leading to an early death. In this report we demonstrate in mld mice that the gene encoding myelin basic protein (MBP) is expressed at decreased levels and on an abnormal temporal schedule relative to the wild-type gene. Southern blot analyses, field-inversion gel electrophoresis studies, and analyses of mld MBP cosmid clones indicate that there are multiple linked copies of the MBP gene in mld mice. We have introduced an MBP transgene into mld mice and found that myelination increases and tremors and convulsions decrease. Mld and shiverer mice with zero, one, or two copies of the MBP transgene express distinct levels of MBP mRNA and myelin. The availability of a range of mice expressing graded levels of myelin should facilitate quantitative analysis of the roles of MBP in the myelination process and of myelin in nerve function.
髓鞘缺乏(mld)是颤抖小鼠(shiverer)的一个等位基因,纯合子小鼠表现出中枢神经系统髓鞘形成减少、震颤以及惊厥,且严重程度逐渐增加,最终导致早期死亡。在本报告中,我们在mld小鼠中证明,与野生型基因相比,编码髓鞘碱性蛋白(MBP)的基因表达水平降低且时间安排异常。Southern印迹分析、场反转凝胶电泳研究以及对mld MBP黏粒克隆的分析表明,mld小鼠中存在多个相连的MBP基因拷贝。我们已将一个MBP转基因导入mld小鼠,发现髓鞘形成增加,震颤和惊厥减少。携带零个、一个或两个MBP转基因拷贝的mld和颤抖小鼠表达不同水平的MBP mRNA和髓磷脂。一系列表达不同水平髓磷脂的小鼠的可得性应有助于对MBP在髓鞘形成过程中的作用以及髓磷脂在神经功能中的作用进行定量分析。