Cerruti Sola S, Castagnaro M, Cheng K M
Dipartimento di Patologia Animale, Università degli Studi di Torino, Italy.
J Comp Pathol. 1997 May;116(4):329-38. doi: 10.1016/s0021-9975(97)80050-3.
The rc gene represents a recessive mutation in chickens, known to cause retinal degeneration and blindness, as well as abnormal sarcolemmal membranes of cardiac myocytes associated with reduced choline transport. In this study, the visceral organs from "old" (aged 12 months) and "young" (aged 5 months) homozygous blind (rc/rc), heterozygous (Rc+/rc) and normal (Rc+/Rc+) chickens were examined histologically to investigate whether the primary effect of the mutation was on cellular structure. Homozygous birds showed enlarged thyroids with acidophilic colloids in enlarged and often ruptured follicles, macrovesicular lipid accumulation in the liver, increased numbers of nuclei in the myocardial fibres, hypertrophy of the lobular structure of the medullary portion of the thymus, cloudy swelling of the tubular epithelium of the kidney and slow maturation (in young birds) and degeneration (in old birds) of the gonads. All lesions, except for those of the thymus, were more severe in old than in young birds. Some heterozygous chickens were mildly affected and none of the normal (Rc+/Rc+) birds exhibited these abnormalities.
rc基因代表鸡中的一种隐性突变，已知会导致视网膜退化和失明，以及与胆碱转运减少相关的心肌细胞肌膜异常。在本研究中，对“老龄”（12个月龄）和“幼龄”（5个月龄）的纯合失明（rc/rc）、杂合（Rc+/rc）和正常（Rc+/Rc+）鸡的内脏器官进行了组织学检查，以研究该突变的主要影响是否在于细胞结构。纯合鸡表现出甲状腺肿大，肿大且常破裂的滤泡中有嗜酸性胶体，肝脏中有大泡性脂质蓄积，心肌纤维中的细胞核数量增加，胸腺髓质部分的小叶结构肥大，肾近曲小管上皮细胞浊肿，性腺成熟缓慢（幼龄鸡）和退化（老龄鸡）。除胸腺病变外，所有病变在老龄鸡中比在幼龄鸡中更严重。一些杂合鸡受到轻度影响，而所有正常（Rc+/Rc+）鸡均未表现出这些异常。
