The Jackson Laboratory

Davisson MT, Bergstrom DE, Reinholdt LG, Donahue LR. Discovery Genetics: The History and Future of Spontaneous Mutation Research, Curr Protocol Mouse Biol. 2012; 2:103-118.

Davisson MT, Bronson RT, Tadenev ALD, Motley WM, Krishnaswamy A, Seburn KL, Burgess RW. 2012. A Spontaneous Mutation in Contactin 1 in the Mouse. PLoS ONE 6: e29538. PMID 22242131

2011

Lindfors C et al. 2011. Hypothalamic mitochondrial dysfunction associated with anorexia in the anx/anx mouse. Proceedings of the National Academy of Sciences of the United States of America 108: 18108-18113. PMID 22025706

Fairfield H et al. 2011. Mutation discovery in mice by whole exome sequencing. Genome Biology 12: R86. PMID 21917142

Keane TM et al.  2011.  Mouse genomic variation and its effect on phenotypes and gene regulation.  Nature 477:289-294.  PMID 21921910.

Flaherty JP, Fairfield HE, Spruce CA, McCarty CM, Bergstrom DE. 2011. Molecular characterization of an allelic series of mutations in the mouse Nox3 gene. Mamm Genome 22(3-4):156-69. PMID 21161235

2010

Wu B, Potter CS, Silva KA, Liang Y, Reinholdt LG, Alley LM, Rowe LB, Roopenian DC, Awgulewitsch A, Sundberg JP. 2010. Mutations in sterol O-acyltransferase 1 (Soat1) result in hair interior defects in AKR/J mice. J Invest Dermatol 130: 2666-2668. PMID 20574437

Robledo RF, Lambert AJ, Birkenmeier CS, Cirlan MV, Cirlan AF, Campagna DR, Lux SE, Peters LL. 2010. Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells. Blood 115: 1804-1814. PMID 20056793

Chase TH et al. 2010. The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. Blood 115: 1267-1276. PMID 19846887

DeMambro VE, Kawai M, Clemens TL, Fulzele K, Maynard JA, Marin de Evsikova C, Johnson KR, Canalis E, Beamer WG, Rosen CJ, Donahue LR. 2010. A novel spontaneous mutation of Irs1 in mice results in hyperinsulinemia, reduced growth, low bone mass and impaired adipogenesis. J Endocrinol 204: 241-253. PMID 20032200

Fuerst PG, Harris BS, Johnson KR, Burgess RW. 2010. A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability. Genesis 48: 578-584. PMID: 20715164

Howng SY, Avila RL, Emery B, Traka M, Lin W, Watkins T, Cook S, Bronson R, Davisson M, Barres BA, Popko B. 2010. ZFP191 is required by oligodendrocytes for CNS myelination. Genes Dev 24: 301-311. PMID 20080941

Odgren PR, Pratt CH, Mackay CA, Mason-Savas A, Curtain M, Shopland L, Ichicki T, Sundberg JP, Donahue LR. 2010. Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies. PLoS One 5: e9959. PMID 20376364

2009

Chang B et al. 2009. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A 106: 19581-19586. PMID 19887631

Cook SA, Collin GB, Bronson RT, Naggert JK, Liu DP, Akeson EC, Davisson MT. 2009. A mouse model for Meckel syndrome type 3. J Am Soc Nephrol 20: 753-764. PMID 19211713

D'Ascenzo M et al. 2009. Mutation discovery in the mouse using genetically guided array capture and resequencing. Mamm Genome 20: 424-436. PMID 19629596

Mao M, Thedens DR, Chang B, Harris BS, Zheng QY, Johnson KR, Donahue LR, Anderson MG. 2009. The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. Mamm Genome 20: 462-475. PMID 19669234

Munroe RJ, Prabhu V, Acland GM, Johnson KR, Harris BS, O'Brien TP, Welsh IC, Noden DM, Schimenti JC. 2009. Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. BMC Dev Biol 9: 27. PMID 19379485

Schuster-Gossler K, Harris B, Johnson KR, Serth J, Gossler A. 2009. Notch signalling in the paraxial mesoderm is most sensitive to reduced Pofut1 levels during early mouse development. BMC developmental biology 9: 6. PMID 19161597

Wilhelm D, Washburn LL, Truong V, Fellous M, Eicher EM, Koopman P. 2009. Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice. Mechanisms of development 126: 324-336. PMID 19269320

2008

Chang B et al. 2008. Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene. Hum Mol Genet 17: 3929-3941. PMID 18805803

Hunt PA, Jackson JM, Horan S, Lawson CA, Grindell L, Washburn LL, Eicher EM. 2008. The mouse A/HeJ Y chromosome: another good Y gone bad. Chromosome Res 16: 623-636. PMID 18483871

Jin N et al. 2008. VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse. EMBO J 27: 3221-3234. PMID 19037259

Miki T et al. 2008. Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies. Neuroscience 155: 31-44. PMID 18597946

Nikolova G, Sinsheimer JS, Eicher EM, Vilain E. 2008. The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice. Genetics 179: 419-427. PMID 18458101

2007

Jiao Y, Yan J, Jiao F, Yang H, Donahue LR, Li X, Roe BA, Stuart J, Gu W. 2007. A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice. BMC Genet 8: 16. PMID 17439653

Johnson KR, Marden CC, Ward-Bailey P, Gagnon LH, Bronson RT, Donahue LR. 2007. Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. Mol Endocrinol 21: 1593-1602. PMID 17440044

Longo-Guess C, Gagnon LH, Bergstrom DE, Johnson KR. 2007. A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9. Hear Res 234: 21-28. PMID 17967520

Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR. 2007. Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation. Mamm Genome 18: 646-656. PMID 17876667

Yan J, Jiao Y, Jiao F, Stuart J, Donahue LR, Beamer WG, Li X, Roe BA, LeDoux MS, Gu W. 2007. Effects of carbonic anhydrase VIII deficiency on cerebellar gene expression profiles in the wdl mouse. Neurosci Lett 413:196-201. PMID 17174474

2006

Chang B, Dacey MS, Hawes NL, Hitchcock PF, Milam AH, Atmaca-Sonmez P, Nusinowitz S, Heckenlively JR. 2006. Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci 47(11):5017-21. PMID 17065522

Chang B et al. 2006. The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci 23:11-24. PMID 16597347

Chang B et al. 2006. An in-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 15:1847-57. PMID 16632484

Chizhikov V, Steshina E, Roberts R, Ilkin Y, Washburn L, Millen KJ. Molecular definition of an allelic series of mutations disruptiong the mouse Lmx1a (dreher) gene. 2006. Mamm Genome 17:1025-1032. PMID 17019651

Friedman JS et al. 2006. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet 79:1059-70.

Gagnon LH, Longo-Guess CM, Berryman M, Shin J-B, Saylor KW, Yu H, Gillespie PG, Johnson KR. 2006. The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function. J Neurosci 26: 10188-98. PMID 17021174.

Gilbert SL, Zhang L, Forster ML, Iwase T, Soliven B, Donahue LR, Sweet HO, Bronson RT, Davisson MT, Wollmann RL, Lahn Bt. 2006. Trak 1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. Nat Genet 38:245-50. PMID 16380713

Johnson KR, Zheng QY, Noben-Trauth K. 2006. Strain background effects and genetic modifiers of hearing in mice. Brain Res 1091:79-88. PMID 16579977

Jones SM, Jones TA, Johnson KR, Yu, H, Erway LC, Zheng QY. 2006. A comparison of vestibular and auditory phenotypes in inbred mouse strains. Brain Res 1091:40-46. PMID 16499890

Lee JW, Beebe K, Nangle LA, Jang J, Longo-Guess C, Cook SA, Davisson MT, Sundberg JP, Schimmel P, Ackerman SL. 2006. Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration in the sticky mouse. Nature 443:50-5. PMID 16906134

Simon-Chazottes D, Tutois S, Kuehn M, Evans M, Bourgade F, Cook S, Davisson MT, Guenet J-L. 2006. Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse. Genomics 87:673-7. PMID 16517118

2005

Jiao Y, Yan J, Zhao Y, Donahue LR, Beamer WG, Li X, Roe BA, Ledoux MS, Gu W. 2005. Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics 2005 171:1239-46. PMID 16118194

Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR. 2005. A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. Proc Natl Acad Sci USA 102: 7894-7899. PMID 15905332

Zhao L, Longo-Guess C, Harris BS, Lee JW, Ackerman SL. 2005. Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP. Nat Genet 37:974-9. PMID 16116427

2004

Lorenz-Depiereux B et al. New intragenic deletions in the Phex gene clarify XLH-related abnormalities in mice. Mamm Genome. 2004 Mar;15(3):151-61. PMID 15029877