Russell D H, Meier H
J Neurobiol. 1975 May;6(3):267-75. doi: 10.1002/neu.480060303.
Quaking mutants and jimpy mutants of mice have known deficiencies of myelination of the central nervous system, as well as lesser involvement of the peripheral nervous system. Both mutants also have altered polyamine synthesis and accumulation, particularly in the hindbrain and spinal column. The ratio of spermidine/spermine, which generally is higher in tissues with high rates of biosynthetic activity, was significantly lower in the mutants as compared to their normal siblings. In quaking mutants, 5 months of age, the spermidine concentration of hindbrain and spinal column was 60% that of controls. In contrast, the decreased spermidine/spermine ratio in jimpy mutants resulted from a marked increase in the spermine concentration in both forebrain and hindbrain. Alterations in the spermidine/spermine ratio could lead to reductions in the biosynthetic potential of the brain during development.
已知小鼠的颤抖突变体和jimpy突变体存在中枢神经系统髓鞘形成缺陷，以及程度较轻的周围神经系统受累情况。这两种突变体的多胺合成和积累也发生了改变，尤其是在后脑和脊柱中。亚精胺/精胺的比例通常在生物合成活性高的组织中较高，与正常的同胞相比，突变体中的该比例显著降低。在5个月大的颤抖突变体中，后脑和脊柱的亚精胺浓度是对照组的60%。相比之下，jimpy突变体中亚精胺/精胺比例的降低是由于前脑和后脑的精胺浓度显著增加所致。亚精胺/精胺比例的改变可能导致大脑发育过程中生物合成潜力的降低。
