Magnuson T, Epstein C J
Cell. 1984 Oct;38(3):823-33. doi: 10.1016/0092-8674(84)90277-0.
The mutation, oligosyndactyly, results in syndactyly, muscle anomalies, and diabetes insipidus in heterozygous mice. When homozygous, the mutation is lethal early in development. Although homozygous embryos are able to form blastocyst outgrowths (the in vitro equivalent to implantation), cells begin to accumulate in mitosis as early as the blastocyst stage. Even though the cytologic appearance is that of mitotic cells treated with a microtubule inhibitor such as colcemid, the homozygous embryos do, in fact, have normal appearing mitotic spindles. These results define the Os mutation as one which, in the homozygous state, prevents the movement of chromosomes from the metaphase plate. It is the first mammalian developmental mutation to be so defined and is unique among all mitotic arrest mutations thus far described in higher eucaryotes.
这种名为少指(趾)畸形的突变会导致杂合子小鼠出现并指(趾)畸形、肌肉异常和尿崩症。当为纯合子时,该突变在发育早期是致死的。尽管纯合子胚胎能够形成胚泡外植体(体外相当于着床),但早在胚泡阶段细胞就开始在有丝分裂中积累。尽管细胞学外观与用秋水仙酰胺等微管抑制剂处理的有丝分裂细胞相似,但纯合子胚胎实际上具有外观正常的有丝分裂纺锤体。这些结果将Os突变定义为一种在纯合状态下会阻止染色体从中期板移动的突变。它是第一个被如此定义的哺乳动物发育突变,并且在迄今为止高等真核生物中描述的所有有丝分裂停滞突变中是独一无二的。