MOUSE MODELS FOR GENETIC DISEASES

遗传疾病小鼠模型

• 批准号: 3086530
• 负责人: Leonard Stanley Sender
• 金额: $ 8.68万
• 依托单位: UNIVERSITY OF LOUISVILLE
• 依托单位国家: 美国
• 财政年份: 1990
• 资助国家: 美国
• 起止时间: 1990-08-01 至 1995-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3086530
• 关键词: Gaucher's disease; antisense nucleic acid; bone marrow transplantation; disease /disorder model; electroporation; gene expression; gene therapy; genes; genetic disorder; genetic manipulation; genetic recombination; genetically modified animals; glucosylceramidase; laboratory mouse; microinjections; model design /development; transposon /insertion element

Gaucher disease (GD) is the most common lysosomal storage disorder. The disease is caused by an inherited functional deficiency of the lysosomal enzyme glucocerebrosidase (GC). Presently, there is no animal model for Gaucher disease; it would be advantageous to have a rodent model of Gaucher's disease to further its study and therapy. The availability of clones for the human and mouse genes for GC presents the possibility that a transgenic animal could be developed which manifests the enzyme deficiency and reproduces the pathologic complications of Gaucher disease. The long-term objective of this proposal is to develop animal models for a variety of human genetic diseases using transgenic mice produced by either homologous recombination or an antisense cDNA construct that are introduced into the mouse germline. The animal models could be used to evaluate the potential of therapeutic approaches, such as gene therapy in autologous bone marrow transplantation or allogeneic bone marrow transplantation.

戈谢病（GD）是最常见的溶酶体贮积症。这 该疾病是由遗传性溶酶体功能缺陷引起的 葡萄糖脑苷脂酶（GC）。目前尚无动物模型 戈谢病；拥有一个啮齿动物模型将是有利的 戈谢氏病进一步研究和治疗。的可用性 人类和小鼠 GC 基因的克隆表明， 可以开发出表现出酶缺乏的转基因动物 并再现戈谢病的病理并发症。这 该提案的长期目标是开发动物模型 使用由任一方法产生的转基因小鼠来治疗多种人类遗传疾病 引入同源重组或反义 cDNA 构建体 进入小鼠种系。动物模型可用于评估 治疗方法的潜力，例如自体基因治疗 骨髓移植或同种异体骨髓移植。