Embury S, Seller M J, Adinolfi M, Polani P E
Proc R Soc Lond B Biol Sci. 1979 Nov 30;206(1162):85-94. doi: 10.1098/rspb.1979.0092.
The incidence of neurovertebral defects in mutant mice of the curly-tail strain was investigated and found to be similar to that observed in the same mice twenty-five years ago. The results of breeding experiments support the hypothesis of Grüneberg that the defects in these mice are probably caused by a recessive gene, the expression of which is markedly affected by the genetic background. Selection against the curly-tail phenotype for six generations did not affect the incidence of abnormalities. A marked excess of females was found among exencephalic mice, as among humans with neural tube defects. Similarly, polyhydramnios, hydrocephaly, high levels of amniotic fluid alphafoetoprotein and distinctive, rapidly adhering cells in the amniotic fluid also occurred in these mice, as in humans. The curly-tail mice thus provide a useful model for the investigation of neural tube defects in man.
对卷尾品系突变小鼠的神经管缺陷发生率进行了研究，发现其与25年前在同一批小鼠中观察到的情况相似。繁殖实验结果支持了格吕内贝格的假说，即这些小鼠的缺陷可能由一个隐性基因引起，该基因的表达受到遗传背景的显著影响。连续六代针对卷尾表型进行选择，并未影响异常发生率。在无脑儿小鼠中发现雌性明显过多，人类神经管缺陷患者中也是如此。同样，这些小鼠也出现了羊水过多、脑积水、羊水甲胎蛋白水平升高以及羊水中有独特的、快速黏附的细胞，人类也有类似情况。因此，卷尾小鼠为研究人类神经管缺陷提供了一个有用的模型。
