MOUSE MUTANT GENE RESOURCE

小鼠突变基因资源(MMGR)的长期目标 杰克逊实验室将继续提供新的自发来源 用于生物和生物医学研究的突变。自发突变 是人类条件模型的主要来源 突变的基因还没有被克隆。的具体目标 MMGR计划是为了(1)识别小鼠的新突变；(2) 对新的突变体进行基因、表型和 在病理学上；(3)建立适合于 我们和其他人的进一步分析；(4)将它们作为冷冻胚胎保存 以确保它们继续可用，并作为未来分子的DNA 分析，以及(5)为其他研究人员提供突变体和对照。 新的突变将从表型异常中鉴定出来 出现在杰克逊实验室的繁育群体中。他们将会是 以基因决定遗传模式为特征， 与任何已知的突变进行等位基因测试，以产生 相似的表型，并决定了染色体的位置。新的 突变体将通过观察它们的表型来表征 生育力增长、生存能力、寿命和行为，并通过定义 他们的 解剖学、组织病理学和生理学的异常。我们测试 与突变基因重组的潜在候选基因。为 选择突变体，我们做进一步的分子分析来鉴定 突变的基因。我们还做了更深入的表型和病理研究 对我们小组成员或合作者的突变体进行分析 有特定的专业知识。具有生物医学潜力的新突变体 研究将作为冷冻胚胎和DNA进行维护和保存， 在开放文献中描述，并向其他人提供 杰克逊实验室和世界范围内的科学研究人员 社区。

The long range goal of the Mouse Mutant Gene Resource (MMGR) at The Jackson Laboratory is to provide a continuing source of new spontaneous mutations for biological and biomedical research. Spontaneous mutations in the mouse are the primary source of models for human conditions for which the mutated gene has not been cloned. The specific objectives of the MMGR program are to (1) identify new mutations in the mouse; (2) characterize the new mutants genetically, phenotypically, and pathologically; (3) establish the new mutations in strains suitable for further analysis by us and others; (4) preserve them as frozen embryos to assure their continued availability and as DNA for future molecular analysis, and (5) provide mutants and controls to other investigators. The new mutations will be identified from among phenotypic deviants appearing in The Jackson Laboratory's breeding colonies. They will be characterized genetically by determining the mode of inheritance, testing for allelism with any already known mutations that produce similar phenotypes, and determining the chromosomal location. The new mutants will be characterized phenotypically by observing their fertility growth, viability, life span, and behavior and by defining their anatomical, histopathological, and physiological abnormalities. We test potential candidate genes for recombination with the mutant gene. For selected mutants, we do further molecular analysis to identify the mutated gene. We also do more in depth phenotypic and pathologic analysis on mutants for which a member of our group or a collaborator has specific expertise. New mutants with potential for biomedical research will be maintained, preserved as frozen embryos and DNA, described in the open literature and made available to other investigators at The Jackson Laboratory and in the world-wide scientific community.