The specific aims of this project are: 1. To procure new potentially valuable neurological, immunological and endocrinological mutants of mice that occur spontaneously in the breeding colonies of the Jackson Laboratory; 2. To characterize the new mutations genetically with respect to mode of inheritance, allelism, and linkage relationship; 3. To characterize the new mutants phenotypically with respect to fertility, longevity, growth, viability, and behavior; 4. To study the anatomical, histopathological, and physiological abnormalities of selected new mutants; 5. To develop suitable strains for maintaining and studying new and established mouse mutations so as to keep the mutant and normal allele segregating on a uniform genetic background; 6. To preserve established mutants as frozen embryos to assure their continued availability; 7. To make mutants and mutant-bearing mice available to the scientific community.
| 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 |
| 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 |
| 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 |
| 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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