Mouse Genome Informatics (MGI), Jackcon Laboratory, Bar Harbor, ME, USA.
Mamm Genome. 2022 Mar;33(1):108-119. doi: 10.1007/s00335-021-09902-3. Epub 2021 Aug 14.
In addition to naturally occurring sequence variation and spontaneous mutations, a wide array of technologies exist for modifying the mouse genome. Standardized nomenclature, including allele, transgene, and other mutation nomenclature, as well as persistent unique identifiers (PUID) are critical for effective scientific communication, comparison of results, and integration of data into knowledgebases such as Mouse Genome Informatics (MGI), Alliance for Genome Resources, and International Mouse Strain Resource (IMSR). As well as being the authoritative source for mouse gene, allele, and strain nomenclature, MGI integrates published and unpublished genomic, phenotypic, and expression data while linking to other online resources for a complete view of the mouse as a valuable model organism. The International Committee on Standardized Genetic Nomenclature for Mice has developed allele nomenclature rules and guidelines that take into account the number of genes impacted, the method of allele generation, and the nature of the sequence alteration. To capture details that cannot be included in allele symbols, MGI has further developed allele to gene relationships using sequence ontology (SO) definitions for mutations that provide links between alleles and the genes affected. MGI is also using (HGVS) variant nomenclature for variants associated with alleles that will enhance searching for mutations and will improve cross-species comparison. With the ability to assign unique and informative symbols as well as to link alleles with more than one gene, allele and transgene nomenclature rules and guidelines provide an unambiguous way to represent alterations in the mouse genome and facilitate data integration among multiple resources such the Alliance of Genome Resources and International Mouse Strain Resource.
除了自然发生的序列变异和自发突变外，还有广泛的技术可用于修饰小鼠基因组。标准化的命名法，包括等位基因、转基因和其他突变命名法，以及持久唯一标识符 (PUID)，对于有效的科学交流、结果比较以及将数据集成到知识库（如 Mouse Genome Informatics (MGI)、Alliance for Genome Resources 和 International Mouse Strain Resource (IMSR)）中至关重要。作为小鼠基因、等位基因和品系命名法的权威来源，MGI 整合了已发表和未发表的基因组、表型和表达数据，同时链接到其他在线资源，以全面了解小鼠作为有价值的模型生物。国际标准化遗传命名委员会 (ICGNC) 为小鼠等位基因命名制定了规则和指南，考虑了受影响基因的数量、等位基因生成的方法以及序列改变的性质。为了捕捉不能包含在等位基因符号中的细节，MGI 进一步使用突变的序列本体 (SO) 定义开发了等位基因与基因的关系，为等位基因和受影响的基因之间提供了联系。MGI 还将使用 (HGVS) 变体命名法来命名与等位基因相关的变体，这将增强对突变的搜索，并改善跨物种比较。由于能够分配独特且信息丰富的符号，以及将等位基因与多个基因相关联，等位基因和转基因命名规则和指南为代表小鼠基因组中的改变提供了一种明确的方法，并促进了多个资源（如 Alliance of Genome Resources 和 International Mouse Strain Resource）之间的数据集成。
