The mission of the Mouse Mutant Resource (MMR) at The Jackson Laboratory (TJL) is to provide mouse models for biomedical and biological research. Spontaneous mutations continue to be a major source of mouse models for human disorders. They complement specifically targeted mutations and have the advantage that they are first recognized by relevant phenotypes and do not require prior knowledge of the underlying genes. The specific objectives of the MMR program in this renewal are to (1) characterize new mouse mutants genetically, phenotypically, and pathologically;(2) establish the new mutations in strains suitable for further analysis;(3) preserve the mutations as frozen embryos or gametes to assure their continued availability and as DNA for future molecular analysis;(4) provide mutant mice and controls to other investigators, and (5) provide information about the mutant mice to the scientific community. The new mutations are discovered as phenotypic deviants appearing in The Jackson Laboratory's large breeding colonies. They are characterized genetically by determining their modes of inheritance, testing them for allelism with known mutations that produce similar phenotypes, and determining their chromosomal locations. Each new mutant is characterized phenotypically by observing its growth, viability, fertility, life span, and behavior and by defining its anatomical, histopathological, and physiological abnormalities. For those mutants with phenotypes that resemble important human diseases, further genetic and molecular analyses are undertaken to identify the underlying genes. The MMR team has expertise in hearing, vision, bone biology, reproduction, and neuropathology and collaborates with experienced investigators in other fields. All new mutants are published in peer-reviewed journals or presented on the MMR and TJL web sites, and related information is made available-through the Mouse Genome Database. Relevance of project to human health: The research in this project will provide new mouse models for specific human disorders and for basic biomedical research to understand biological systems affected by human diseases. Mouse models enable scientists to understand the causes and pathologies of similar human diseases so that prevention strategies or therapeutics for these diseases can be developed. In addition, therapies or drugs can be tested on mouse models prior to human trials to assess efficacy and safety.

National Institute of Health (NIH)
Office of The Director, National Institutes of Health (OD)
Animal (Mammalian and Nonmammalian) Model, and Animal and Biological Material Resource Grants (P40)
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National Center for Research Resources Initial Review Group (RIRG)
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Mirochnitchenko, Oleg
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Jackson Laboratory
Bar Harbor
United States
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Peterson, Kevin A; Beane, Glen L; Goodwin, Leslie O et al. (2017) CRISPRtools: a flexible computational platform for performing CRISPR/Cas9 experiments in the mouse. Mamm Genome 28:283-290
Tian, Cong; Harris, Belinda S; Johnson, Kenneth R (2016) Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis. PLoS One 11:e0168159
Chang, Bo (2016) Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. Methods Mol Biol 1438:417-30
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Pratt, C Herbert; Dionne, Louise A; Fairfield, Heather et al. (2016) Gnaq(M1J): An ENU-Induced Mutant Allele Affecting Pigmentation in the Mouse. J Invest Dermatol 136:334-336
Jones, Julie M; Dionne, Louise; Dell'Orco, James et al. (2016) Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder. Neurobiol Dis 89:36-45
Liu, Ye; Lee, Jeong Woong; Ackerman, Susan L (2015) Mutations in the microtubule-associated protein 1A (Map1a) gene cause Purkinje cell degeneration. J Neurosci 35:4587-98
Fairfield, Heather; Srivastava, Anuj; Ananda, Guruprasad et al. (2015) Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res 25:948-57
Herbert Pratt, C; Potter, Christopher S; Fairfield, Heather et al. (2015) Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome. Exp Mol Pathol 98:164-72
Pratt, C Herbert; Dionne, Louise; Fairfield, Heather et al. (2015) Gnaq(M1J): An ENU Induced Mutant Allele Affecting Pigmentation in the Mouse. J Invest Dermatol :

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