Rutledge J C, Cain K T, Cacheiro N L, Cornett C V, Wright C G, Generoso W M
Science. 1986 Jan 24;231(4736):395-7. doi: 10.1126/science.3941902.
A semisterile male translocation heterozygote [t(2; 14) 1Gso] that exhibited neurological symptoms and an inability to swim (diver) was found among the offspring of male mice treated with triethylenemelamine. All breeding and cytogenetic data showed a complete concordance between translocation heterozygosity and the neurological disorders. Homozygosity for the translocation seemed to be lethal at an early embryonic stage. Despite the distinctive neurologic symptoms, no anatomic or histological defects in either the ear or in the central nervous system were observed. Thus, a balanced chromosomal translocation can produce disease with an inheritance pattern that mimics a single dominant gene defect.
在接受三亚乙基三聚氰胺处理的雄性小鼠后代中，发现了一只半不育的雄性易位杂合子[t(2; 14) 1Gso]，它表现出神经症状且无法游泳（潜水）。所有繁殖和细胞遗传学数据表明，易位杂合性与神经疾病完全一致。易位的纯合性在胚胎早期似乎是致死的。尽管有明显的神经症状，但在耳朵或中枢神经系统中均未观察到解剖学或组织学缺陷。因此，一种平衡的染色体易位可以产生具有模仿单一显性基因缺陷遗传模式的疾病。
