title: Excavating the Genome: Large-Scale Mutagenesis Screening for the Discovery of New Mouse Models.
abstract: Technology now exists for rapid screening of mutated laboratory mice to identify phenotypes associated with specific genetic mutations. Large repositories exist for spontaneous mutants and those induced by chemical mutagenesis, many of which have never been fully studied or comprehensively evaluated. To supplement these resources, a variety of techniques have been consolidated in an international effort to create mutations in all known protein coding genes in the mouse. With targeted embryonic stem cell lines now available for almost all protein coding genes and more recently CRISPR/Cas9 technology, large-scale efforts are underway to create further novel mutant mouse strains and to characterize their phenotypes. However, accurate diagnosis of skin, hair, and nail diseases still relies on careful gross and histological analysis, and while not automated to the level of the physiological phenotyping, histopathology still provides the most direct and accurate diagnosis and correlation with human diseases. As a result of these efforts, many new mouse dermatological disease models are being characterized and developed.
authors.affiliation: Departments of Research and Development, The Jackson Laboratory, Bar Harbor, Maine, USA.|Division of Dermatology, Department of Medicine, Vanderbilt University, Nashville, Tennessee, USA.
authors.forename: John P
authors.initials: JP
authors.lastname: Sundberg
authors.affiliation: Department of Dermatology, University of Connecticut, Farmington, Connecticut, USA.|Department of Genetics and Developmental Biology, University of Connecticut, Farmington, Connecticut, USA.
authors.forename: Soheil S
authors.initials: SS
authors.lastname: Dadras
authors.affiliation: Departments of Research and Development, The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Silva
authors.affiliation: Departments of Research and Development, The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Victoria E
authors.initials: VE
authors.lastname: Kennedy
authors.affiliation: Department of Genetic Resources Science, The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Murray
authors.affiliation: Department of Genetic Resources Science, The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: James M
authors.initials: JM
authors.lastname: Denegre
authors.affiliation: Departments of Research and Development, The Jackson Laboratory, Bar Harbor, Maine, USA.|Department of Physiology Development and Neuroscience, University of Cambridge, Cambridge, UK.
authors.forename: Paul N
authors.initials: PN
authors.lastname: Schofield
authors.affiliation: Division of Dermatology, Department of Medicine, Vanderbilt University, Nashville, Tennessee, USA.
authors.forename: Lloyd E
authors.initials: LE
authors.lastname: King
authors.affiliation: Department of Technology Evaluation and Development, The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Michael V
authors.initials: MV
authors.lastname: Wiles
authors.affiliation: Department of Genetic Resources Science, The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: C Herbert
authors.initials: CH
authors.lastname: Pratt
mesh_terms: D000506:Alopecia Areata / Q000235:genetics*; D000818:Animals; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D016678:Genome; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D010641:Phenotype