Sidman R L, Kinney H C, Sweet H O
Proc Natl Acad Sci U S A. 1985 Jan;82(1):253-7. doi: 10.1073/pnas.82.1.253.
Gray tremor (gt) is an autosomal recessive mutation in the mouse linked to caracul (Ca) on chromosome 15. The complex mutant phenotype includes pigmentation defects, tremor, seizures, hypo- and dysmyelination in central and peripheral nervous systems, spongiform encephalopathy, and early death. The heterozygote (+/gt) is phenotypically normal but develops a mild spongiform encephalopathy from 2 months of age onward. The pigmentation and myelination disorders indicate that the gt genetic locus is active neonatally and probably earlier. This report focuses mainly on the later-expressed vacuolating disorder, which most closely mimics in tissue distribution, histopathology, and ultrastructure the spongiform encephalopathies caused by unconventional transmissible agents. This lesion was produced in genetically normal mice in a transmission experiment: of 99 neonatal mice inoculated intracerebrally with gt/gt brain homogenate, all 7 mice of three strains (BALB/cBy, C3HeB/FeJ, and C57BL/6J) allowed to survive for the unusually long interval of 682-721 days after inoculation, developed spongiform changes distributed as in the mutant phenotype. The gray tremor mutant presents a naturally occurring spongiform encephalopathy whose expression is determined by the interaction of genetic factors and a transmissible agent.
灰色震颤（gt）是小鼠中的一种常染色体隐性突变，与15号染色体上的卡拉库尔（Ca）相关联。复杂的突变表型包括色素沉着缺陷、震颤、癫痫发作、中枢和外周神经系统的髓鞘形成不足和异常、海绵状脑病以及早期死亡。杂合子（+/gt）在表型上是正常的，但从2个月大开始会发展出轻度海绵状脑病。色素沉着和髓鞘形成障碍表明gt基因座在新生儿期甚至可能更早时就处于活跃状态。本报告主要关注后期出现的空泡化障碍，其在组织分布、组织病理学和超微结构方面最接近由非常规传染性因子引起的海绵状脑病。在一项传播实验中，这种病变在基因正常的小鼠中产生：用gt/gt脑匀浆脑内接种99只新生小鼠，接种后存活时间异常长，达682 - 721天的三个品系（BALB/cBy、C3HeB/FeJ和C57BL/6J）的所有7只小鼠均出现了如突变表型中那样分布的海绵状变化。灰色震颤突变体呈现出一种自然发生的海绵状脑病，其表达由遗传因素和一种传染性因子的相互作用决定。
