Evans E P, Breckon G, Peters J
Sir William Dunn School of Pathology, University of Oxford, UK.
Genet Res. 1990 Aug;56(1):15-9. doi: 10.1017/s0016672300028834.
A male mouse with irregular white spotting, typical of piebald, s, arose during an experiment designed to search for mutations induced in spermatogonial cells by ethylnitrosourea (ENU). On being examined cytologically it was found to carry 40 chromosomes but was effectively XXY since one of the two X chromosomes present was distally fused to a Y chromosome. In common with the previously described XXY mice, all of which carried 41 chromosomes, the mouse was sterile with a total absence of germ cells. Because of this, it was not possible to determine if the white spotting was inherited. The spotting could not be related to any observable abnormality of chromosomes known to carry spotting genes, nor could it be linked in any way with the X and Y fusion. It was concluded from the cytological considerations and the time interval (6 months) that had elapsed between mutagen treatment and birth of the offspring, that whereas the spotting was probably the result of ENU damage in a spermatogonial stem cell, the XY fusion was probably a later and spontaneous event.
在一项旨在寻找乙基亚硝基脲（ENU）诱导精原细胞产生的突变的实验中，出现了一只具有典型花斑状不规则白色斑点的雄性小鼠。经细胞学检查发现，它有40条染色体，但实际上是XXY，因为两条X染色体中的一条在末端与一条Y染色体融合。与之前描述的所有携带41条染色体的XXY小鼠一样，这只小鼠不育，完全没有生殖细胞。因此，无法确定白色斑点是否可遗传。该斑点与已知携带斑点基因的任何可观察到的染色体异常均无关联，也与X和Y染色体融合没有任何联系。从细胞学分析以及诱变处理与后代出生之间经过的时间间隔（6个月）可以得出结论，虽然斑点可能是精原干细胞中ENU损伤的结果，但XY融合可能是后来的自发事件。
