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选择8～10周龄雄性C57BL/6J小鼠120只,腹腔注射乙烷基亚硝基脲(ENU)100mg.kg-1,每周1次,连续3周。将处理雄鼠与同品系母鼠交配,在其后代小鼠中筛选出眼部突变个体,并对突变的个体进行遗传试验,以建立人类遗传性眼病小鼠模型。结果表明:在筛查的3500只诱变小鼠中得到85只眼部异常的突变体,其中能遗传眼部异常表型的突变种3例,1例为双角膜浑浊,其后代表型复杂,2/3为虹膜缺损,1/3为角膜浑浊;1例为小睑裂伴角膜变性浑浊;1例为角膜变性浑浊。这3种突变表型都表现为显性遗传,且均为人类先天性眼病常见类型,说明诱变可以获得人类遗传性眼病的小鼠模型。
A total of 120 male C57BL / 6J mice aged 8-10 weeks were injected intraperitoneally with 100 mg.kg-1 of ethylnitrosotinumab (ENU) once a week for 3 weeks. The males were mated with females of the same breed and screened for eye-shaped individuals in their offspring. Genetic studies were performed on the mutated individuals to establish a human genetic mouse model of eye disease. The results showed that in the 3,500 mutagenized mice screened, there were 85 mutants with ocular abnormalities, of which 3 were mutants capable of inheriting ocular abnormal phenotypes, 1 was double-corneal turbidity, and then the representative complex type , 2/3 for iris defect, 1/3 for corneal opacity; 1 case for palpebral fissure with corneal degeneration turbidity; 1 case for corneal degeneration turbidity. All three mutant phenotypes showed dominant inheritance, and all were common types of human congenital eye diseases, indicating that mouse models of human genetic eye disease can be obtained by mutagenesis.