ANIMAL MODELS FOR STUDIES OF NEURAL TUBE DEFECTS

用于研究神经管缺陷的动物模型

• 批准号: 3652235
• 负责人: DOROTHEA BENNETT
• 金额: $ 23.17万
• 依托单位: SLOAN-KETTERING INST CAN RESEARCH
• 依托单位国家: 美国
• 财政年份: 1986
• 资助国家: 美国
• 起止时间: 1986-03-01 至 1990-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3652235
• 关键词: animal colony; disease /disorder model; fusion failure; gene mutation; genetic manipulation; laboratory mouse; molecular cloning; nucleic acid probes

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.

本合同的具体目标是发展和表征 小鼠中的遗传模型，其中两个突变基因的相互作用 导致100％出生时的动物显示sacro-caudal脊柱裂 类似于人类的常见缺陷，其中之一的纯合子 突变是产前致命的，神经管完全失败 关闭。 该研究团队将提供动物模型和相关的DNA 向有兴趣的调查人员进行探究。 重组DNA技术将是 用于识别和克隆突变基因的尝试 了解他们的行动机制。 这项研究应为在A中的NTD研究提供一个非凡的模型 哺乳动物（鼠）。 NTD高发射率的杂合突变小鼠 应使用出色的遗传信息生产。 经过 繁殖和跨跨性，存在一个很棒的机会 这些具有遗传背景的基因，可以加强 通过修饰符基因产生的NTD。 建立模型后，它将 通过识别和克隆突变基因和克隆来表征遗传表征 提供潜在用于诊断相似遗传的基因探针 人的因素。