Chang B, Hawes N L, Smith R S, Heckenlively J R, Davisson M T, Roderick T H
The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Genomics. 1996 Aug 15;36(1):171-3. doi: 10.1006/geno.1996.0439.
Examination of mouse strains with a slit lamp and indirect ophthalmoscopy revealed that strain CBA/CaGnLe has a white cataract obvious at weaning age. It soon progresses to a large white nuclear cataract with mild cortical changes. Crosses with C57BL/6J showed that this is inherited as a single recessive fully penetrant gene, which we have designated lop18 (lens opacity 18). Linkage analysis using visible marker T (brachyury), histocompatibility marker H2, and microsatellite markers D17Mit21, D17Mit28, D17Mit38, and D17Mit46 shows that the lop18 gene is located, approximately 16 cM from the centromere on mouse Chromosome 17. It is a likely candidate mutation for the alpha-crystallin (Crya1) gene.
用裂隙灯和间接检眼镜检查小鼠品系发现,CBA/CaGnLe品系在断奶时就有明显的白色白内障。它很快发展为大的白色核性白内障,并伴有轻度皮质改变。与C57BL/6J杂交表明,这是由一个单隐性完全显性基因遗传而来,我们将其命名为lop18(晶状体混浊18)。使用可见标记T(短尾)、组织相容性标记H2以及微卫星标记D17Mit21、D17Mit28、D17Mit38和D17Mit46进行连锁分析表明,lop18基因位于小鼠17号染色体上,距着丝粒约16厘摩。它可能是α-晶状体蛋白(Crya1)基因的候选突变。