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的小鼠突变资源（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。 小鼠中的自发突变是人类疾病模型的主要来源，并且与基因工程突变相比具有优势，因为它们首先通过产生相关表型而被识别，并且不需要对潜在基因的先验知识。 MMR计划的具体目标是：（1）发现小鼠中新的自发突变;（2）从遗传学、表型和病理学角度描述新突变体的特征;（3）在适合进一步分析的菌株中建立新突变;（4）将突变保存为冷冻胚胎或配子，以确保其持续可用性，并作为DNA用于未来分子分析;（5）向其他研究者提供突变小鼠和对照;以及（6）向其他人提供关于突变小鼠的信息。新的突变是从TJL大型育种群体中出现的表型变异中发现的。 通过确定遗传模式、检测产生相似表型的已知突变的等位性以及确定染色体位置来确定其遗传特征。 每一个新的突变体的特点是通过观察其生长，活力，生育能力，寿命和行为，并通过定义其解剖，组织病理学和生理异常的表型。 对于选定的突变体，其表型类似于一种重要的人类疾病，研究人员将做进一步的遗传和分子分析，以确定突变基因。 研究人员对具有表型的突变体进行更深入的分析，其中小组成员或合作者具有特定的专业知识。 MMR团队在听力、视力、骨生物学、生殖和神经病理学方面拥有专业知识。 所有具有生物医学研究潜力的新突变体将被保存，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用于生物医学研究。