神经管缺陷(NTDs)是由于胚胎发育过程中神经管不适当或不完全闭合而导致的先天性畸形。中枢神经系统周围的保护性覆盖物的许多类似畸形也经常包括在这个总括术语下,这可能不严格符合这个定义。在人类和广泛的家畜物种中存在并已报道了一系列NTD表型。在兽医文献中,这些病例包括无脑症,脑膨出,皮样窦,脊柱裂,和颅骨。虽然环境因素有作用,在这些动物病例中,遗传易感性可能是NTDs风险的重要部分。实验室模型物种的研究(鱼类,鸟,两栖动物,和啮齿动物)有助于提高我们对神经化过程的理解。在老鼠身上,已经鉴定了超过200个可能参与这一过程的基因,并研究了变异表型。像实验室老鼠模型一样,家畜和家畜物种显示出广泛的NTD表型。他们仍然存在,然而,一个基本上未得到充分利用的人群,可以补充已经建立的实验室模型。在这里,我们回顾了伴侣动物和牲畜中NTD的报道,并将这些与其他动物和人类病例进行比较。我们的目标是强调非实验室动物模型在发现突变方面的潜力,以及对神经形成机制和NTDs发展的一般见解。
Neural tube defects (NTDs) are congenital malformations resulting from the improper or incomplete closure of the neural tube during embryonic development. A number of similar malformations of the protective coverings surrounding the central nervous system are also often included under this umbrella term, which may not strictly fit this definition. A range of NTD phenotypes exist and have been reported in humans and a wide range of domestic and livestock species. In the veterinary literature, these include cases of anencephaly, encephalocele, dermoid sinus, spina bifida, and
craniorachischisis. While environmental factors have a role, genetic predisposition may account for a significant part of the risk of NTDs in these animal cases. Studies of laboratory model species (fish, birds, amphibians, and rodents) have been instrumental in improving our understanding of the neurulation process. In mice, over 200 genes that may be involved in this process have been identified and variant phenotypes investigated. Like laboratory mouse models, domestic animals and livestock species display a wide range of NTD phenotypes. They remain, however, a largely underutilized population and could complement already established laboratory models. Here we review reports of NTDs in companion animals and livestock, and compare these to other animal species and human cases. We aim to highlight the potential of nonlaboratory animal models for mutation discovery as well as general insights into the mechanisms of neurulation and the development of NTDs.