Using standard nomenclature to adequately name transgenes, knockout gene alleles and any mutation associated to a geneti
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TECHNICAL REPORT
Using standard nomenclature to adequately name transgenes, knockout gene alleles and any mutation associated to a genetically modified mouse strain Lluı´s Montoliu • C. Bruce A. Whitelaw
Received: 29 April 2010 / Accepted: 3 July 2010 / Published online: 15 July 2010 Ó Springer Science+Business Media B.V. 2010
Abstract Mice provide an unlimited source of animal models to study mammalian gene function and human diseases. The powerful genetic modification toolbox existing for the mouse genome enables the creation of, literally, thousands of genetically modified mouse strains, carrying spontaneous or induced mutations, transgenes or knock-out/knockin alleles which, in addition, can exist in hundreds of different genetic backgrounds. Such an immense diversity of individuals needs to be adequately annotated, to ensure that the most relevant information is kept associated with the name of each mouse line, and hence, the scientific community can correctly interpret and benefit from the reported animal model. Therefore, rules and guidelines for correctly naming genes, alleles and mouse strains are required. L. Montoliu (&) Department of Molecular and Cellular Biology, Centro Nacional de Biotecnologı´a (CNB), Consejo Superior de Investigaciones Cientı´ficas (CSIC), Campus de Cantoblanco, Darwin 3, 28049 Madrid, Spain e-mail: [email protected] L. Montoliu Centro de Investigacio´n Biome´dica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain C. B. A. Whitelaw (&) The Roslin Institute and Royal (Dick) School of Veterinary Studies, Division of Developmental Biology, University of Edinburgh, Midlothian, EH25 9PS Scotland, UK e-mail: [email protected]
The Mouse Genome Informatics Database is the authoritative source of official names for mouse genes, alleles, and strains. Nomenclature follows the rules and guidelines established by the International Committee on Standardized Genetic Nomenclature for Mice. Herewith, both from the International Society for Transgenic Technologies (ISTT) and from the scientific journal Transgenic Research, we would like to encourage all our colleagues to adhere and follow adequately the standard nomenclature rules when describing mouse models. The entire scientific community using genetically modified mice in experiments will benefit. Keywords Genetic background Genotype, transgenic mice Knockout mice Embryonic stem cells Standard nomenclature Mouse strain Inbred Outbred Hybrid Laboratory code Rules Targeted mutation Transgene Allele
Genetic modification of mice has become central for our understanding of gene function. It is difficult to know, exactly, how many transgenic and knockout mouse lines have been created. An indicative number for mouse genes with targeted alleles ([10,000) can be obtained from Mouse Genome Informatics (MGI) statistics web page (http://www.informatics.jax.org/ mgihome/homepages/stats/all_stats.shtml; April 2010).
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From this number, we can elaborate that several thousands of genetically modi
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