ANIMAL MODELS FOR STUDIES OF NEURAL TUBE DEFECTS

本合同的具体目标是开发和描述 小鼠的遗传模型，其中两个突变基因的相互作用 结果100%的动物在出生时表现出骶尾部脊柱裂 类似于人类的一种常见缺陷，其中之一的纯合子 突变是产前致命的，伴随着神经管的完全失败 结案了。该研究小组将提供动物模型和相关DNA 对感兴趣的调查人员进行调查。重组DNA技术将成为 用于尝试识别和克隆突变基因，以便 了解他们的作用机制。 这项研究将提供一个特殊的模型，以研究NTDS在一个 哺乳动物(鼠)。NTDS高发的杂合突变小鼠 应该用可获得的极好的遗传信息来生产。通过 育种和回交，是组合的绝佳机会 这些具有遗传背景的基因将加剧 由修饰基因产生的NTD。一旦模型建立，它将 通过鉴定和克隆突变基因来确定其遗传学特征 为类似基因的诊断提供可能有用的基因探针 人的因素。

The specific objectives of this contract are to develop and characterize a genetic model in the mouse, where the interaction of two mutant genes results in 100% of animals at birth showing a sacro-caudal spina bifida analogous to a common defect in man, and where homozygotes for one of those mutations are prenatally lethal with complete failure of neural tube closure. This research team will provide the animal model and relevant DNA probes to interested investigators. Recombinant DNA technology will be used to attempt to identify and clone the mutant genes in order to understand their mechanism of action. This study should provide an exceptional model for studies of NTDs in a mammal (murine). Heterozygous mutant mice with high incidence of NTDs should be produced with excellent genetic information available. By breeding and backcrossing, an outstanding opportunity exists for combining these genes with a genetic background that will intensify the magnitude of the NTD produced by modifier genes. Once the model is established it will be characterized genetically by identifying and cloning the mutant gene and provide gene probes potentially useful in the diagnosis of similar genetic factors in man.