Readhead C, Hood L
Division of Biology, California Institute of Technology, Pasadena 91125.
Behav Genet. 1990 Mar;20(2):213-34. doi: 10.1007/BF01067791.
Shiverer (shi/shi) is an autosomal recessive mouse mutation that produces a shivering phenotype in affected mice. A shivering gait can be seen from a few weeks after birth until their early death, which occurs between 50 and 100 days. The central nervous system of the mutant mouse is hypomyelinated but the peripheral nervous system appears normal. The myelin of the CNS, wherever present, is not well compacted and lacks the major dense line. Myelin basic protein (MBP), which is associated with the major dense line, is absent, and this is due to a deletion of the major part of the gene encoding MBP. Transgenic shiverer mice that have integrated and express the wild-type mouse MBP transgene no longer shiver and have normal life spans. Conversely, normal mice that have integrated an antisense MBP transgene, shiver. Myelin deficient shimld/shimld is allelic to shiverer (shi/shi) but the mutant mouse is less severely affected. Although MBP is present in the CNS, it is low in quantity and is not developmentally regulated. The gene encoding MBP has been both duplicated and inverted. Transgenic shimld/shimld mice with the wild-type MBP transgene have normal phenotypes.
颤抖鼠（shi/shi）是一种常染色体隐性小鼠突变体，在受影响的小鼠中会产生颤抖的表型。从出生后几周直至其早亡（发生在50至100天之间）都可以看到颤抖的步态。突变小鼠的中枢神经系统髓鞘形成不良，但外周神经系统看起来正常。中枢神经系统的髓鞘，无论何处存在，都没有很好地压实且缺乏主致密线。与主致密线相关的髓鞘碱性蛋白（MBP）缺失，这是由于编码MBP的基因大部分缺失所致。整合并表达野生型小鼠MBP转基因的转基因颤抖鼠不再颤抖且具有正常寿命。相反，整合了反义MBP转基因的正常小鼠会颤抖。髓鞘缺陷型shimld/shimld与颤抖鼠（shi/shi）等位，但突变小鼠受影响程度较轻。虽然MBP存在于中枢神经系统中，但其数量较少且不受发育调控。编码MBP的基因发生了重复和倒置。带有野生型MBP转基因的转基因shimld/shimld小鼠具有正常表型。
