MOUSE MUTANT RESOURCE: AIDS

小鼠突变资源：艾滋病

• 批准号: 7153948
• 负责人: MURIEL T DAVISSON
• 金额: $ 30.2万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-05-01 至 2006-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7153948
• 关键词: animal breeding; animal colony; animal genetic material tag; cryopreservation; embryo /fetus preservation; gene mutation; genetic mapping; genetic models; genetic registry /resource /referral center; genetic strain; genetically modified animals; genotype; laboratory mouse; northern blottings; phenotype; polymerase chain reaction; southern blotting

DESCRIPTION (provided by applicant): The mission of the Mouse Mutant Resource (MMR) at TJL is to provide a continuing source of new spontaneous mutations for biomedical and biological research. Spontaneous mutations in the mouse are a major source of models for human disorders and have the advantage over genetically engineered mutations in that they are first recognized by producing relevant phenotypes and do not require prior knowledge of the underlying genes. The specific objectives of the MMR program are to: (1) discover new spontaneous mutations in the mouse; (2) characterize the new mutants genetically, phenotypically, and pathologically; (3) establish the new mutations in strains suitable for further analysis; (4) preserve the mutations as frozen embryos or gametes to assure their continued availability and as DNA for future molecular analysis; (5) provide mutant mice and controls to other investigators; and (6) provide information about the mutant mice to others. The new mutations are discovered from among phenotypic deviants appearing in TJL large breeding colonies. They are characterized genetically by determining the mode of inheritance, testing for allelism with known mutations that produce a similar phenotype, and determining the chromosomal location. Each new mutant is characterized phenotypically by observing its growth, viability, fertility, life span, and behavior, and by defining its anatomical, histopathological, and physiological abnormalities. For selected mutants whose phenotype resembles that of an important human disease, the investigators will do further genetic and molecular analysis to identify the mutant gene. The investigators do more in depth analysis on mutants with phenotypes for which a member of the group or a collaborator has specific expertise. The MMR team has expertise in hearing, vision, bone biology, reproduction, and neuropathology. All new mutants with potential for biomedical research will be maintained, preserved as frozen embryos and DNA, and described in the open literature and/or on the MMR and TJL Websites. The overall purpose of the MMR is to make new mutant models available to other investigators for biomedical research.

描述（由申请人提供）： TJL 小鼠突变资源 (MMR) 的使命是为生物医学和生物学研究提供新的自发突变的持续来源。 小鼠的自发突变是人类疾病模型的主要来源，并且比基因工程突变具有优势，因为它们首先通过产生相关表型来识别，并且不需要预先了解潜在基因。 MMR计划的具体目标是：（1）发现小鼠新的自发突变； (2) 对新突变体进行遗传、表型和病理学表征； (3)在菌株中建立适合进一步分析的新突变； (4) 将突变保存为冷冻胚胎或配子，以确保其持续可用，并作为 DNA 用于未来的分子分析； (5) 向其他研究者提供突变小鼠和对照； (6)向他人提供有关突变小鼠的信息。这些新突变是从 TJL 大型育种群体中出现的表型异常中发现的。 它们的遗传特征是确定遗传模式，测试产生相似表型的已知突变的等位性，并确定染色体位置。 通过观察其生长、活力、繁殖力、寿命和行为，并定义其解剖学、组织病理学和生理异常，对每个新突变体进行表型表征。 对于表型与人类重要疾病相似的选定突变体，研究人员将进行进一步的遗传和分子分析，以鉴定突变基因。 研究人员对具有表型的突变体进行了更深入的分析，其中小组成员或合作者对此具有特定的专业知识。 MMR 团队拥有听力、视觉、骨生物学、生殖和神经病理学方面的专业知识。 所有具有生物医学研究潜力的新突变体都将被保存为冷冻胚胎和 DNA，并在公开文献和/或 MMR 和 TJL 网站上进行描述。 MMR 的总体目的是为其他研究人员提供新的突变模型以进行生物医学研究。