Theiler K, Varnum D S
Anat Embryol (Berl). 1981;162(1):121-6. doi: 10.1007/BF00318098.
A semidominant mutation in the laboratory mouse, Coloboma (Cm), is described. Coloboma is located on Chromosome 2, as is the similar mutation Dickie's small eye (Dey). Coloboma has a moderately reduced expressivity. The anterior chamber is usually present in Cm/+. Both Cm and Dey show delayed detachment of the lens vesicle and microphthalmia, and homozygotes of both apparently die early in pregnancy.
本文描述了实验室小鼠中的一种半显性突变——缺损(Coloboma,Cm)。缺损基因位于2号染色体上,类似的迪基小眼(Dickie's small eye,Dey)突变也位于该染色体。缺损具有中等程度的表达降低。在Cm/+个体中通常存在前房。Cm和Dey都表现出晶状体泡延迟脱离和小眼症,并且两者的纯合子在妊娠早期显然都会死亡。