Studies on an autosomal resessive cataract mouse.

对常染色体隐性白内障小鼠的研究。

• 批准号: 61570853
• 负责人: TAKEUCHI Ikuo
• 金额: $ 1.09万
• 依托单位: Institute for Developmental Research,Aichi Prefectural Colony
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (C)
• 财政年份: 1986
• 资助国家: 日本
• 起止时间: 1986 至 1987
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-61570853/
• 关键词: cataract; microphthalmia; mutation; linkage test; animal model; 疾患モデル動物; マウス; 先天性白内障; メチルニトロソウレ3

A male mouse displaying bilateral microphthalmia and cataract was obtained in the offspring of pregnant Slc:ICR mouse treated intraperitoneally with 10 mg/kg methylnitrosourea on gestational day 4. This mutant has been maintained by brother-sister mating. By the mating test with normal Slc:ICR mice, this character was revealed to be inherited by an autosomal single recessive gene. Linkage test with the brown locus showed that this mutant gene is linked with the B gene mapped on chromosome 4.The histological study of the eyes of adult mutant mice revealed various abnormalities all over the eyes, especially in the lens and neural retina. Embryologically,the mutant mice showed the persistence of attachment of lens vesicle with the surface ectoderm by a cellular stalk,and also the formation of retinal folding, in the early stages of eye development. Both were considered to be responsible for the consequent abnormal development and degeneration of the lens.These results suggest that the mutant mouse we found may be an allele of the dysgenetic lens (dy1) reported by Sanyal and Hawkins(1979). However,further genetic studies are required to clarify this problem,and our mutant mouse is provisionally designated dysgenetic lens and retina (gone symbol dlr).

在妊娠第4天腹腔注射10 mg/kg甲基亚硝基脲的妊娠Slc：ICR小鼠的后代中获得了一只显示双侧小眼和白内障的雄性小鼠。这一突变体一直保持兄弟姐妹交配。通过与正常Slc：ICR小鼠交配试验，证实该性状为常染色体单隐性基因遗传。与棕色位点的连锁分析表明，该突变基因与定位于4号染色体上的B基因连锁。对成年突变小鼠的眼组织学观察发现，其眼部各部位均有不同程度的异常，尤其是透镜和神经视网膜。在胚胎学上，突变小鼠在眼睛发育的早期阶段表现出透镜囊泡通过细胞柄与表面外胚层的持续附着，以及视网膜折叠的形成。这些结果表明，我们发现的突变小鼠可能是Sanyal和Hawkins（1979）报道的透镜发育透镜（dy 1）的一个等位基因。然而，需要进一步的遗传学研究来澄清这个问题，我们的突变小鼠暂时被命名为遗传异常的透镜和视网膜（gone symbol dlr）。