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Murine allele and transgene symbols: ensuring unique, concise, and informative nomenclature
Mammalian Genome ( IF 2.5 ) Pub Date : 2021-08-14 , DOI: 10.1007/s00335-021-09902-3
M. N. Perry 1 , C. L. Smith 1
Affiliation  

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As well as being the authoritative source for mouse gene, allele, and strain nomenclature, MGI integrates published and unpublished genomic, phenotypic, and expression data while linking to other online resources for a complete view of the mouse as a valuable model organism.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.



中文翻译:

鼠等位基因和转基因符号:确保独特、简洁和信息丰富的命名法

除了自然发生的序列变异和自发突变之外,还存在大量用于修改小鼠基因组的技术。标准化命名法,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整合到知识库中至关重要,例如小鼠基因组信息学 (MGI)、联盟基因组资源和国际小鼠品系资源 (IMSR)。作为小鼠基因、等位基因和品系命名的权威来源,华大智造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一种有价值的模式生物。国际小鼠标准化遗传命名委员会制定了等位基因命名规则和指南,其中考虑了受影响的基因数量、等位基因生成方法和序列改变的性质。为了捕捉不能包含在等位基因符号中的细节,MGI 使用序列本体 (SO) 定义的突变进一步开发了等位基因与基因的关系,这些定义提供了等位基因和受影响基因之间的联系。MGI 还对与等位基因相关的变体使用(HGVS)变体命名法,这将增强对突变的搜索并改善跨物种比较。能够分配独特的信息符号以及将等位基因与多个基因联系起来,

更新日期:2021-08-19
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