Faculty of Science, School of Life and Environmental Sciences, The University of Sydney, Sydney, New South Wales, Australia.
Faculty of Science, Sydney School of Veterinary Science, The University of Sydney, Sydney, New South Wales, Australia.
Birth Defects Res. 2021 Mar;113(4):319-348. doi: 10.1002/bdr2.1848. Epub 2020 Dec 8.
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.
神经管缺陷（NTDs）是胚胎发育过程中神经管闭合不当或不完全导致的先天性畸形。许多类似的中枢神经系统保护罩畸形也常包含在这个术语下，这些畸形可能并不严格符合这个定义。存在多种 NTD 表型，并在人类和广泛的家畜和家禽物种中得到了报道。在兽医文献中，这些包括无脑畸形、脑膨出、皮窦、脊柱裂和颅脊柱裂。虽然环境因素起作用，但遗传易感性可能占这些动物病例中 NTD 风险的很大一部分。对实验室模型物种（鱼类、鸟类、两栖动物和啮齿动物）的研究有助于提高我们对神经发生过程的理解。在小鼠中，已经鉴定出 200 多个可能参与这一过程的基因，并对变异表型进行了研究。与实验室小鼠模型一样，家畜和家禽物种也表现出广泛的 NTD 表型。然而，它们在很大程度上仍未得到充分利用，并且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家畜 NTD 的报道，并将其与其他动物物种和人类病例进行了比较。我们旨在强调非实验室动物模型在突变发现方面的潜力，以及对神经发生机制和 NTD 发展的一般认识。
