Tsuji S, MacPike A D, Okouchi E, Meier H
Jikken Dobutsu. 1975 Jul;24(3):111-8. doi: 10.1538/expanim1957.24.3_111.
We determined that leaner gene (la) is located in the linkage group XVIII and closely linked to Es-1, which is known to be located closely to tottering gene (tg). Double heterozygote (la/tg) produced by mating between la heterozygote and tg heterozygote showed an intermediate syndrome between those seen in tottering (tg/tg) and leaner (la/la) mice. Both leaner and tottering mice showed neuromuscular disorders, but their clinical and pathological characteristics were different. Leaner mice were found to represent a so-called cerebellar mutant having the reduced size of cerebellum and severe cytoarchitectonic abnormalities with focal losses of Purkinje and granular layer cells. Tottering was, however, another mutation having epileptiform seizures, and it was characterized pathologically by cellular losses and shrinkage as well as vesiculations of cytoplasmic membranous structures in the cerebellum. The double heterozygote was shown to have both pathologic characteristics seen in each homozygote, and also showed shrinkage of Purkinje cells and vesiculation of the endoplasmic reticulum and Golgi apparatus. These clinical and pathological findings supported the genetic data suggesting that la and tg constitute an allele.
我们确定，瘦基因（la）位于连锁群XVIII中，与已知与蹒跚基因（tg）紧密连锁的Es-1紧密相连。瘦基因杂合子与蹒跚基因杂合子交配产生的双杂合子（la/tg）表现出介于蹒跚（tg/tg）和瘦（la/la）小鼠之间的中间综合征。瘦小鼠和蹒跚小鼠均表现出神经肌肉疾病，但它们的临床和病理特征不同。瘦小鼠被发现是一种所谓的小脑突变体，其小脑尺寸减小，细胞结构严重异常，浦肯野细胞和颗粒层细胞局部缺失。然而，蹒跚是另一种具有癫痫样发作的突变，其病理特征是小脑细胞丢失、萎缩以及细胞质膜结构的空泡化。双杂合子被证明具有在每个纯合子中所见的两种病理特征，并且还表现出浦肯野细胞萎缩以及内质网和高尔基体的空泡化。这些临床和病理发现支持了表明la和tg构成一个等位基因的遗传数据。
