The long range goal of the Mouse Mutant Gene Resource (MMGR) at The Jackson Laboratory is to provide a continuing source of new spontaneous mutations for biological and biomedical research. Spontaneous mutations in the mouse are the primary source of models for human conditions for which the mutated gene has not been cloned. The specific objectives of the MMGR program are to (1) identify new mutations in the mouse; (2) characterize the new mutants genetically, phenotypically, and pathologically; (3) establish the new mutations in strains suitable for further analysis by us and others; (4) preserve them as frozen embryos to assure their continued availability, and (5) provide mutants and controls to other investigators. The new mutations will be identified from among phenotypic deviants appearing in The Jackson Laboratory's breeding colonies. They will be characterized genetically by determining the mode of inheritance, testing for allelism with any already known mutations that produce similar phenotypes, and determining the chromosomal location. The new mutants will be characterized pheonotypically by observing their fertility, growth, viability, life span, and behavior and by defining their anatomical, histopathological, and physiological abnormalities. New mutants with potential for biomedical research will be maintained, preserved as frozen embryos, described in the open literature, and made available to other investigators at The Jackson Laboratory and in the world-wide scientific community.

Project Start
1978-07-01
Project End
1998-06-30
Budget Start
1993-07-01
Budget End
1994-06-30
Support Year
16
Fiscal Year
1993
Total Cost
Indirect Cost
Name
Jackson Laboratory
Department
Type
DUNS #
042140483
City
Bar Harbor
State
ME
Country
United States
Zip Code
04609
Davisson, Muriel T; Cook, Susan A; Akeson, Ellen C et al. (2015) Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis. Am J Physiol Renal Physiol 308:F1335-42
Sakami, Sanae; Kolesnikov, Alexander V; Kefalov, Vladimir J et al. (2014) P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis. Hum Mol Genet 23:1723-41
Li, Qiaoli; Pratt, C Herbert; Dionne, Louise A et al. (2014) Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene. PLoS One 9:e113542
Korstanje, Ron; Caputo, Christina R; Doty, Rosalinda A et al. (2014) A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen ?3?4?5(IV) trimers. Kidney Int 85:1461-8
Potter, Gregory B; Santos, Marta; Davisson, Muriel T et al. (2013) Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. Hum Mol Genet 22:3397-414
Nilsson, Ida A K; Lindfors, Charlotte; Schalling, Martin et al. (2013) Anorexia and hypothalamic degeneration. Vitam Horm 92:27-60
Schramm, R Dee; Li, Shuai; Harris, Belinda S et al. (2012) A novel mouse Dscam mutation inhibits localization and shedding of DSCAM. PLoS One 7:e52652
Davisson, Muriel T; Bergstrom, David E; Reinholdt, Laura G et al. (2012) Discovery Genetics - The History and Future of Spontaneous Mutation Research. Curr Protoc Mouse Biol 2:103-118
Fairfield, Heather; Gilbert, Griffith J; Barter, Mary et al. (2011) Mutation discovery in mice by whole exome sequencing. Genome Biol 12:R86
Davisson, Muriel T; Bronson, Roderick T; Tadenev, Abigail L D et al. (2011) A spontaneous mutation in contactin 1 in the mouse. PLoS One 6:e29538

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