Rauch H
J Hered. 1983 May-Jun;74(3):141-4. doi: 10.1093/oxfordjournals.jhered.a109751.
Toxic milk, tx, a new autosomal recessive mutation in mice is described. Litters produced by mutant females display a syndrome including poor growth, hypopigmentation, tremors, and ultimately death at two weeks of age. These features, consistent with copper deficiency, are attributed to failure in gestational hepatic copper accumulation exacerbated by subsistence on milk with greatly reduced copper content. Such infants can be rescued by foster-nursing on normal dams or by administered of supplemental cooper. Mutants themselves amass extraordinarily large concentrations of hepatic copper that ultimately leads to liver disease. Erroneous hepatic copper metabolism is further evidenced by reduced ceruloplasmin activity.
描述了一种新的小鼠常染色体隐性突变——有毒牛奶(tx)。突变雌性小鼠所产的仔鼠表现出一种综合征,包括生长发育不良、色素沉着不足、震颤,最终在两周龄时死亡。这些与铜缺乏相符的特征,归因于妊娠期间肝脏铜积累失败,而以铜含量大幅降低的牛奶为食会加剧这种情况。通过由正常母鼠代养或补充铜可以挽救这类幼崽。突变体自身会积累异常大量的肝脏铜,最终导致肝脏疾病。血浆铜蓝蛋白活性降低进一步证明了肝脏铜代谢存在异常。