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褪色震颤鸡,一种鸡身上的致死性色素沉着和神经学突变。

Faded shaker, a lethal pigment and neurological mutation in the chicken.

作者信息

Silversides F G, Smyth J R

出版信息

J Hered. 1986 Sep-Oct;77(5):295-300. doi: 10.1093/oxfordjournals.jhered.a110245.

Abstract

Faded shaker (fs) is a lethal condition in chickens resulting in a congenital tremor and a dilution of down and feather melanin. It is inherited as an autosomal recessive gene with the homozygote showing incomplete penetrance, the apparent result of a single dominant gene masking the effects of the fs/fs genotype. Mortality of the mutants occurred between 18 days of incubation and three months of age; most died before one week of age with half of the mutants dying before hatching. No specific cause of death was observed. The tremor had a frequency of 6 to 10 vibrations per second, was more pronounced in the posterior end of the bird and was constant over time within an individual. Weight of the faded shaker cerebellum was reduced by 7.6%, presumably due to an observed deficiency of myelin. The down and feather color of faded shakers ranged from almost normal to near white, but was constant over several feather generations within an individual. Faded shaker melanosomes were both deficient in number and incompletely melanized. Melanocyte dendrition and melanosome distribution were both normal. Skin transplants showed that the dilution was a result of a defect located in the fs/fs skin. Pigmentation of the retinal pigment epithelium also was abnormal.

摘要

褪色颤抖症(fs)是鸡的一种致死性病症,会导致先天性震颤以及绒毛和羽毛黑色素的稀释。它作为常染色体隐性基因遗传,纯合子表现出不完全显性,这显然是单个显性基因掩盖了fs/fs基因型效应的结果。突变体在孵化18天至3个月龄之间死亡;大多数在1周龄前死亡,其中一半在孵化前死亡。未观察到具体死因。震颤频率为每秒6至10次振动,在鸡的后端更明显,且在个体内随时间保持恒定。褪色颤抖症鸡的小脑重量减少了7.6%,推测是由于观察到髓磷脂缺乏。褪色颤抖症鸡的绒毛和羽毛颜色从几乎正常到接近白色不等,但在个体的几代羽毛中保持恒定。褪色颤抖症鸡的黑素小体数量不足且黑色素化不完全。黑素细胞树突形成和黑素小体分布均正常。皮肤移植表明,色素稀释是fs/fs皮肤中存在缺陷的结果。视网膜色素上皮的色素沉着也异常。

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