Eppig J T, Barker J E
Blood. 1984 Sep;64(3):727-32.
Mice with the recessive hereditary disease, Hertwig's anemia (an/an), exhibit a persistent mild macrocytic anemia and reduced fertility. We examined mitotic figures from bone marrow and kidney cells of adult mice and from liver cells of fetal mice that were genetically normal or had Hertwig's anemia. Uniformly normal mitotic figures were observed in the nonanemic mice (+/+ or +/an). In contrast, 5% to 15% of the mitotic figures were abnormal in mice homozyous for Hertwig's anemia (an/an). These aberrant cells were hyperploid, containing more than the normal complement of c40 chromosomes, but fewer than 80 chromosomes. Cells with abnormal numbers of chromosomes may show decreased viability or proliferative capacity. The occurrence of such abnormal cells in an/an mice could explain (1) the loss of progenitor stem cells during erythroid maturation, resulting in an anemic phenotype; and (2) the depletion of germ cells during ontogeny, resulting in reduced fertility.
患有隐性遗传性疾病赫特维希贫血（an/an）的小鼠表现出持续性轻度大细胞性贫血且生育力降低。我们检查了成年小鼠骨髓和肾细胞以及基因正常或患有赫特维希贫血的胎鼠肝细胞中的有丝分裂图像。在非贫血小鼠（+/+或+/an）中观察到一致正常的有丝分裂图像。相比之下，赫特维希贫血纯合子小鼠（an/an）中有5%至15%的有丝分裂图像异常。这些异常细胞是超倍体，含有超过正常数量（约40条）的染色体，但少于80条染色体。染色体数量异常的细胞可能显示出生存力或增殖能力下降。在an/an小鼠中出现此类异常细胞可以解释：（1）在红细胞成熟过程中祖干细胞的损失，导致贫血表型；（2）在个体发育过程中生殖细胞的消耗，导致生育力降低。
