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Genomes and GenesSpecies | K R JohnsonSummaryAffiliation: The Jackson Laboratory Country: USA Publications
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A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactylyK R Johnson
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 7:1033-8. 1998..Homozygous mice of both sexes also lack preputial glands and males do not breed; therefore, spdh/spdh mice may also be valuable in studies of reproductive physiology and behavior...- A major gene affecting age-related hearing loss in C57BL/6J miceK R Johnson
The Jackson Laboratory, Bar Harbor, ME 04609 1500, USA
Hear Res 114:83-92. 1997..ABR test results and cochlear histopathology of aged progenitors of these congenic lines are presented. Ahl is the first gene causing late-onset, non-syndromic hearing loss that has been reported in the mouse... 
Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c geneKenneth R Johnson
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 12:3075-86. 2003..The Ush1c mutant mice described here provide a means to directly investigate these interactions in vivo and to evaluate gene structure-function relationships that affect inner ear and eye phenotypes...- Ahl2, a second locus affecting age-related hearing loss in miceKenneth R Johnson
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, 04609, USA
Genomics 80:461-4. 2002..The statistically significant effect of Ahl2 observed in crosses with NOD/LtJ was not seen in crosses involving three other strains with early onset AHL: A/J, BUB/BnJ, and SKH2/J... - Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndromeK R Johnson
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
Hum Mol Genet 8:645-53. 1999..The new mouse mutation is designated Eya1(bor) to denote its similarity to human BOR syndrome, and will provide a valuable model for studying mutant gene expression and etiology... - Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5Kenneth R Johnson
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
Genomics 81:6-14. 2003..The similarity of the wavy coat phenotype to those of Tgfa and Egfr mutations and the map positions of cub and mcub suggest candidate genes that interact in the EGF receptor signal transduction pathway... - The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IICK R Johnson
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
Genomics 85:582-90. 2005..The molecular basis and pathophysiology of hearing loss suggest BUB/BnJ and Frings mice as models to study cellular and molecular mechanisms underlying USH2C auditory pathology... - Strain background effects and genetic modifiers of hearing in miceKenneth R Johnson
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Brain Res 1091:79-88. 2006..Because modifier genes and digenic inheritance are not always distinguishable, we also include in this review several examples of digenic inheritance of hearing loss that have been reported in both mice and humans... - A major gene affecting age-related hearing loss is common to at least ten inbred strains of miceK R Johnson
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, 04609 1500, USA
Genomics 70:171-80. 2000..Results from an intercross of C57BL/6J and NOD/LtJ mice indicate that the 6- to 10-month difference in AHL onset between these two strains is not due to allelic heterogeneity of the Ahl gene... - mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw)K Noben-Trauth
Jackson Laboratory, Bar Harbor, Maine 04609, USA
Genomics 44:266-72. 1997..Our results reveal an epistatic relationship between the mdfw and the dfw genes and provide a model system to study nonsyndromic hearing loss in mice... - The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndromeK R Johnson
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
Mamm Genome 9:889-92. 1998..The genetic relationships described here will aid in positional cloning efforts to identify the genes responsible for the disparate phenotypes associated with the sy locus... - Hearing loss associated with the modifier of deaf waddler (mdfw) locus corresponds with age-related hearing loss in 12 inbred strains of miceQ Y Zheng
The Jackson Laboratory, Bar Harbor, ME 04609 1500, USA
Hear Res 154:45-53. 2001..A functional relationship therefore may exist between the Ca2+ transporting activity of the dfw gene (Atp2b2) and AHL... - Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdacK R Johnson
Jackson Laboratory, Bar Harbor, Maine 04609, USA
Genomics 29:457-64. 1995..We mapped mdac to the middle of Chr 13 by segregation analysis of both recombinant inbred strains and backcross progeny... - Lens epithelial proliferation cataract in segmental trisomy involving mouse Chromosomes 4 and 17R S Smith
The Jackson Laboratory, Box 261, 600 Main St, Bar Harbor, Maine 04609, USA
Mamm Genome 10:102-6. 1999..The morphological changes observed in the lens resemble those seen in some human congenital cataract syndromes... - A new mouse mutation causing male sterility and histoincompatibilityP F Ward-Bailey
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Mamm Genome 7:793-7. 1996..The most likely gene order places the mutation between D10Mit80 and D10Mit16, near the interferon gamma receptor locus, Ifgr, which may be a candidate gene for this mutation... - Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing lossA Ikeda
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
Hum Mol Genet 8:1761-7. 1999..A moth1 allele from either AKR/J, CAST/Ei or 129/Ola is sufficient to protect C57BL/6J- tub / tub mice from hearing loss... - Neuromuscular ataxia: a new spontaneous mutation in the mouseP F Ward-Bailey
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
Mamm Genome 11:820-3. 2000..The most likely gene order places the mutation between D12Mit270 and D12Mit54, non-recombinant with D12Mit2 in 96 tested meioses... - Genetic mapping of the IL-12 alpha chain gene (Il12a) on mouse chromosome 3P A Schweitzer
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Mamm Genome 7:394-5. 1996 - Mouse paracentric inversion In(3)55Rk mutates the urate oxidase geneS A Cook
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
Cytogenet Cell Genet 93:77-82. 2001..Clinical, histopathological, and Northern analyses indicate that our radiation-induced mutation, uox(In), is a putative null... - Scrambler, a new neurological mutation of the mouse with abnormalities of neuronal migrationH O Sweet
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Mamm Genome 7:798-802. 1996..Currently there is no known homology of scrambler with human lissencephalies or other human disorders caused by abnormal neuronal migration... - Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brainL R Donahue
Jackson Laboratory, Bar Harbor, Maine 04609, USA
Mamm Genome 7:871-6. 1996..Edema and hydrocephalus are absent. This mutation has been mapped to mid-distal mouse Chromosome (Chr) 6 in a region homologous with human Chr 12... - Grey intense: a new mouse mutation affecting pigmentationM T Davisson
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Mamm Genome 11:1139-41. 2000 - A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9Chantal Longo-Guess
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Hear Res 234:21-8. 2007.... - A new allelic series for the underwhite gene on mouse chromosome 15H O Sweet
Jackson Laboratory, Bar Harbor, ME 04609 1500, USA
J Hered 89:546-51. 1998..The perturbed gene and its gene product are unknown. We show that the uw locus is genetically distinct from Myo10, a suggested candidate gene for this mutation... - A new spontaneous mouse mutation in the Kcne1 geneV A Letts
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
Mamm Genome 11:831-5. 2000..The Kcne1(pkr) mutant represents the first spontaneous mouse model for the human disorder, Jervell and Lange-Nielsen syndrome, associated with mutations in the homologous KCNE1 gene on human Chr 21... - A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) miceChantal M Longo-Guess
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Proc Natl Acad Sci U S A 102:7894-9. 2005..Our localization of TMHS to the apical membrane of inner ear hair cells during the period of stereocilia formation suggests a function in hair bundle morphogenesis... - Microtubule-associated protein 1A is a modifier of tubby hearing (moth1)Akihiro Ikeda
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
Nat Genet 30:401-5. 2002..We therefore propose that tub may be associated with synaptic function in neuronal cells... - Balding: a new mutation on mouse chromosome 18 causing hair loss and immunological defectsM T Davisson
Jackson Laboratory, Bar Harbor, ME 04609
J Hered 85:134-6. 1994 - Dense incisors (din): a new mouse mutation on chromosome 16 affecting tooth eruption and body sizeH O Sweet
Jackson Laboratory, Bar Harbor, Maine 04609, USA
J Hered 87:162-7. 1996..The din mutation was mapped to Chr 16 near the pituitary transcription factor gene Pit1, but din is not a mutation in Pit1... - A nuclear-mitochondrial DNA interaction affecting hearing impairment in miceK R Johnson
The Jackson Laboratory, Bar Harbor, Maine, USA
Nat Genet 27:191-4. 2001..This is the first mouse model with a naturally occurring mtDNA mutation affecting a clinical phenotype, and it provides an experimental model to dissect the pathophysiologic processes connecting mtDNA mutations to hearing loss... - Maid: a maternally transcribed novel gene encoding a potential negative regulator of bHLH proteins in the mouse egg and zygoteS Y Hwang
Jackson Laboratory, Bar Harbor, Maine 04609 1500, USA
Dev Dyn 209:217-26. 1997..This new gene, Maid, models the translational and transcriptional regulation of gene expression during the transition from gamete to embryo... - Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9R T Bronson
The Jackson Laboratory, Bar Harbor, Maine, USA
Am J Med Genet 77:289-97. 1998.... - Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansQing Yin Zheng
Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 14:103-11. 2005..Altogether, our data indicate that CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle... - Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degenerationS A Cook
Jackson Laboratory, Bar Harbor, Maine 04609 1500, USA
Mamm Genome 6:187-91. 1995..Although closely linked, nmd recombined with the candidate genes muscle glycogen phosphorylase, Pygm, and ciliary neurotrophic factor, Cntf... - Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutationChantal M Longo-Guess
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Mamm Genome 18:646-56. 2007.... - Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2Kenneth R Johnson
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
Mol Endocrinol 21:1593-602. 2007..Hearing thresholds of adult mutant mice are on average 50-60 decibels (dB) above those of controls... - New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in miceBettina Lorenz-Depiereux
Institute of Human Genetics, GSF National Research Center, München Neuherberg, Germany
Mamm Genome 15:151-61. 2004..Also, identification of the genetic modifiers of hearing and craniofacial dysmorphology in Phex(Hyp-Duk)/Y mice could provide insight into the phenotypic variation of XLH in humans... - A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J miceKenneth R Johnson
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Genomics 92:219-25. 2008..We conclude that ahl8 is a major contributor to the hearing loss of DBA/2J mice and that its effects are dependent on the predisposing Cdh23 ahl genotype of this strain... - A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisisLeah Rae Donahue
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
J Bone Miner Res 18:1612-21. 2003..In addition, SED patients have been identified with a similar molecular mutation in human COL2A1. This mouse model offers a useful tool for molecular and biological studies of bone development and pathology... - Separate and combined effects of Sod1 and Cdh23 mutations on age-related hearing loss and cochlear pathology in C57BL/6J miceKenneth R Johnson
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Hear Res 268:85-92. 2010.... - The interleukin-12 beta subunit (p40) maps to mouse chromosome 11N Noben-Trauth
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
Mamm Genome 7:392. 1996 - The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemiaThomas H Chase
The Jackson Laboratory, Bar Harbor, ME, USA
Blood 115:1267-76. 2010..The trac mutation provides a new clinically significant animal model for human phytosterolemia and provides a new means for studying the role of phytosterols in hematologic diseases and testing therapeutic interventions... - The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear functionLeona H Gagnon
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
J Neurosci 26:10188-98. 2006..These results suggest that CLIC5 associates with radixin in hair cell stereocilia and may help form or stabilize connections between the plasma membrane and the filamentous actin core... - A novel spontaneous mutation of Irs1 in mice results in hyperinsulinemia, reduced growth, low bone mass and impaired adipogenesisVictoria E DeMambro
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
J Endocrinol 204:241-53. 2010..Changes in the heterozygous Irs1(+)(/sml) mice raise the possibility that similar mutations in humans are associated with short stature or osteoporosis... - Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid miceI Jill Karolyi
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109 0618, USA
Mamm Genome 18:596-608. 2007..We conclude that TH supplement administered during the critical period of hearing development in mice can prevent deafness associated with congenital hypothyroidism of heterogeneous genetic etiology... - Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouseAlfredo Calderon
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
Hear Res 221:44-58. 2006..Genome-wide linkage scans of backcross, intercross, and congenic progeny revealed a complex pattern of genetic and stochastic effects... - A comparison of vestibular and auditory phenotypes in inbred mouse strainsSherri M Jones
Department of Communication Sciences and Disorders, East Carolina University, Belk Annex, Greenville and Charles Boulevards, Greenville, NC 27858, USA
Brain Res 1091:40-6. 2006..In addition, some genetic mutations may produce primarily gravity receptor deficits. Potential genes responsible for selective gravity receptor impairment demonstrated herein remain to be identified... - Cu/Zn superoxide dismutase and age-related hearing lossElizabeth M Keithley
Division of Otolaryngology Head and Neck Surgery, University of California, San Diego, La Jolla, 92093 0666, USA
Hear Res 209:76-85. 2005..In conclusion, SOD1 seems important for survival of cochlear neurons and the stria vascularis, however even half the amount is sufficient and an over abundance does not provide much protection from age-related hearing loss... - Age-related hearing loss and the ahl locus in miceElizabeth M Keithley
Division of Otolaryngology Head and Neck Surgery, Department of Surgery, University of California, San Diego, 9500 Gilman Dr, La Jolla, CA 92093 0666, USA
Hear Res 188:21-8. 2004..These results illustrate the complex inheritance of age-related hearing loss in mice and may have implications for the study of human presbycusis... - Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6Kristina L Mitchem
Department of Otolaryngology Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
Hum Mol Genet 11:1887-98. 2002..The spinner mutant is thus a valuable model for insight into mechanisms of human deafness and development of sensory cell function... - Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing lossKonrad Noben-Trauth
Section on Neurogenetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA
Nat Genet 35:21-3. 2003..Altered adhesion or reduced stability of CDH23 may confer susceptibility to AHL. Homozygosity at Cdh23(753A) or in combination with heterogeneous secondary factors is a primary determinant of AHL in mice... - A quantitative survey of gravity receptor function in mutant mouse strainsSherri M Jones
Department of Communication Sciences and Disorders, East Carolina University, Greenville, NC 27858, USA
J Assoc Res Otolaryngol 6:297-310. 2005..Interestingly, some heterozygote groups also showed abnormalities in one or more VsEP response parameters, suggesting that vestibular dysfunction, although less severe, may be present in some heterozygous animals... - Gravity receptor function in mice with graded otoconial deficienciesSherri M Jones
School of Medicine, University of Missouri, Columbia, MO 65212, USA
Hear Res 191:34-40. 2004..It also shows that behavior alone may be an unreliable indicator of the extent of gravity receptor deficits... - Acoustic startle and prepulse inhibition in 40 inbred strains of miceJames F Willott
Department of Psychology, University of South Florida, Tampa 33620, USA
Behav Neurosci 117:716-27. 2003..Previously obtained measures of hearing sensitivity in the same inbred strains were not significantly correlated with ASR or PPI measures...