Yamada J, Serikawa T, Ishiko J, Inui T, Takada H, Kawai Y, Okaniwa A
Jikken Dobutsu. 1985 Apr;34(2):183-8. doi: 10.1538/expanim1978.34.2_183.
In a colony of Kyo: Wistar strain of rats, we found animals with curled whiskers and hair. These rats exhibited tremor when they moved. There were no sex differences in phenotype and behavior, and the affected animals of both sexes were sterile. Among pairs that produced at least one tremulous offspring, 21.8% of the females and 21.7% of the males were affected; these proportions suggest that the anomaly is caused by an autosomal recessive gene. When the presumed heterozygous males were crossed with WAG/Rij females, about half of their female F1 hybrids were heterozygous, and they produced 26.1% (43/165) of the affected offspring when backcrossed to the sires. Again these results suggested that the disorder is caused by an autosomal recessive gene. We tentatively designated the gene as tremor (tm). The main pathological changes were seen in the gonad and central nervous system. The gonads of both sexes were aplastic even in adult animals. Vacuole formation was seen widely in the central nervous system and sometimes exhibited a spongy appearance. After administration of alpha-methyl-p-tyrosine, the norepinephrine content of the cerebellum was high, indicating that some anomalies of catecholamine release were present. The mutation is being maintained by random mating of the littermates of affected animals. Detailed pathological, endocrinological, neuropharmacological, and genetical studies are proceeding.
Wistar品系大鼠中,我们发现了一些胡须和毛发卷曲的动物。这些大鼠在移动时会出现震颤。表型和行为上不存在性别差异,且两性受影响的动物均不育。在至少产生一只震颤后代的配对中,21.8%的雌性和21.7%的雄性受影响;这些比例表明该异常是由常染色体隐性基因引起的。当假定的杂合雄性与WAG/Rij雌性杂交时,它们的雌性F1杂种中约有一半是杂合的,并且当与父本回交时,它们产生了26.1%(43/165)的受影响后代。这些结果再次表明该疾病是由常染色体隐性基因引起的。我们暂时将该基因命名为震颤(tm)。主要的病理变化见于性腺和中枢神经系统。即使在成年动物中,两性的性腺也发育不全。中枢神经系统广泛出现空泡形成,有时呈现海绵状外观。给予α-甲基-对-酪氨酸后,小脑的去甲肾上腺素含量很高,表明存在儿茶酚胺释放的一些异常。该突变通过受影响动物同窝仔的随机交配得以维持。详细的病理、内分泌、神经药理学和遗传学研究正在进行中。