ANIMAL MODELS FOR STUDIES OF NEURAL TUBE DEFECTS

本合同的具体目标是开发和表征 在小鼠的遗传模型中，两个突变基因的相互作用 导致100%的动物在出生时显示骶-尾脊柱裂 类似于人类常见的缺陷，其中一种的纯合子 突变在产前是致命的， 结束 该研究团队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技术将是 用来尝试识别和克隆突变基因， 了解其作用机制。 这项研究应该提供一个特殊的模式，研究NTD在一个 哺乳动物（鼠）。 NTDs高发生率的杂合子突变小鼠 应该用优良的遗传信息来生产。 通过 育种和回交，一个杰出的机会存在，结合 这些基因的遗传背景会增强 由修饰基因产生的NTD。 一旦模型建立， 通过鉴定和克隆突变基因进行遗传学表征， 提供了可能用于诊断类似遗传病的基因探针， 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.