Pathology of Genetically Engineered and Other Mutant Mice. Группа авторов

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3 Mouse Genetic Nomenclature: The Underpinning of Mouse Genetics

       John P. Sundberg, Dale A. Begley, Melissa L. Berry, Michelle N. Perry, David Shaw, and Paul N. Schofield

Introduction

      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,