Читать книгу Pathology of Genetically Engineered and Other Mutant Mice - Группа авторов - Страница 52

Pathologists are meticulous about the accurate use of nomenclature when making a diagnosis, even though there are often numerous synonyms for the disease under investigation. Debates about the specificity of diagnostic terms and the consequences, particularly for genetics, of differences in nosological preferences, can be critical in coming to an understanding of disease etiology and prognosis. For example, differences in “lumping” and “splitting” diagnoses [1] can make the difference between discovering and missing a Genome Wide Association Study (GWAS) signal [2]. In spite of this, few pathologists and researchers are as careful about the accurate use of mouse genetic nomenclature, yet this is as important to the description of a novel mouse model for a human disease as the pathologic description of the lesions.

Systematic genetic nomenclature expresses, in a succinct and precise way, the background of the strain under investigation, the presence of complex sequence variants of many types, and the genetic relationship of one strain to another. Understanding the fundamentals of genetic terminology is a key skill needed to design and interpret experiments using laboratory mice, and a critical part of reporting and sharing results and resources. This has a huge impact on reproducibility as well as accuracy of interpretation, and is a very important part of making data FAIR (https://en.wikipedia.org/wiki/FAIR_data) as it uses community agreed norms for the exchange and interpretation of information [3].

This chapter provides an overview of the various types of mouse strains (inbred, recombinant inbred, congenic, consomic, hybrid, and others [Table 3.1]), outbred stocks, and mutations (spontaneous or engineered) and how their symbols reflect what they are and how they were made. Methods for creating genetically engineered mice are numerous and rapidly changing [4], so they will not be covered here other than in providing information on the currently used genetic designations for the mice created.