Studies on an autosomal resessive cataract mouse.

在妊娠第4天，用10 mg/kg甲基亚硝基脲对妊娠Slc:ICR小鼠的子代进行腹腔注射，得到双侧小眼和白内障的雄性小鼠。这种突变体是通过兄弟姐妹交配维持的。通过与正常Slc:ICR小鼠的交配试验，发现该性状是由常染色体单隐性基因遗传的。褐座连锁试验表明，该突变基因与4号染色体上的B基因连锁。对成年突变小鼠的眼睛进行组织学研究，发现整个眼睛都有各种异常，尤其是晶状体和神经视网膜。胚胎学上，突变小鼠在眼睛发育的早期阶段表现出晶状体囊泡与外胚层表面通过细胞柄持续附着，并形成视网膜折叠。两者都被认为是导致晶状体异常发育和变性的原因。这些结果表明，我们发现的突变小鼠可能是Sanyal和Hawkins（1979）报道的发育不良晶状体（dy1）的等位基因。然而，需要进一步的基因研究来澄清这个问题，我们的突变小鼠暂时被命名为晶状体和视网膜发育不良（符号dlr）。

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).