Epstein C J, Hofmeister B G, Yee D, Smith S A, Philip R, Cox D R, Epstein L B
J Exp Med. 1985 Aug 1;162(2):695-712. doi: 10.1084/jem.162.2.695.
Mouse fetuses with trisomy 16 have severe abnormalities of several hematopoietic stem cell and precursor populations. The thymus is extremely hypoplastic, with a greater than or equal to 80% reduction in the number of thymocytes. This cellular deficiency appears to be the result of a deficiency in the number of precursor cells in the early thymus, since the rate of proliferation of thymocytes in explanted day-14 thymuses was normal. However, the functional maturation of thymocytes was delayed in vitro in day-17 organ explants, although the maximal response to the mitogenic and interleukin 2-stimulating effects of concanavalin A are quantitatively normal. B cells and pre-B cells in the fetal liver were moderately decreased, but the ability of fetal liver cells to be transformed by Abelson murine leukemia virus was nearly totally lost. There were also significant relative and absolute decreases in the number of spleen, culture, and erythroid colony-forming units (CFU-S, CFU-C, CFU-E) and of erythroid burst-forming units (BFU-E) in the trisomic liver, and the trisomic animals were anemic with small spleens and livers. However, unlike other genetically caused anemias, there was no reduction in the number of germ cells. The hematopoietic abnormalities in the trisomy 16 mouse, involving the lymphoid, myeloid, and erythroid cell lineages, are much more generalized than the abnormalities in any of the other described genetically caused immunodeficiencies or anemias in the mouse. They are also more severe than those in human trisomy 21 (Down syndrome), for which mouse trisomy 16 is a genetic model, but there does exist an interesting parallel between the thymic abnormalities in the two species.
16三体小鼠胎儿的几个造血干细胞和前体细胞群体存在严重异常。胸腺极度发育不全，胸腺细胞数量减少80%或更多。这种细胞缺陷似乎是早期胸腺中前体细胞数量不足的结果，因为在移植的第14天胸腺中胸腺细胞的增殖速率是正常的。然而，在第17天的器官外植体中，胸腺细胞的功能成熟在体外延迟，尽管对刀豆球蛋白A的促有丝分裂和白细胞介素2刺激作用的最大反应在数量上是正常的。胎肝中的B细胞和前B细胞适度减少，但胎肝细胞被阿贝尔森鼠白血病病毒转化的能力几乎完全丧失。三体肝脏中脾、培养物、红细胞集落形成单位（CFU-S、CFU-C、CFU-E）和红细胞爆式集落形成单位（BFU-E）的数量也有显著的相对和绝对减少，三体动物贫血，脾脏和肝脏较小。然而，与其他遗传导致的贫血不同，生殖细胞数量没有减少。16三体小鼠的造血异常涉及淋巴、髓系和红系细胞谱系，比小鼠中任何其他描述的遗传导致的免疫缺陷或贫血中的异常更为普遍。它们也比人类21三体（唐氏综合征）中的异常更严重，16三体小鼠是人类21三体的遗传模型，但这两个物种的胸腺异常之间确实存在有趣的相似之处。
