K R Johnson

Summary

Affiliation: The Jackson Laboratory
Country: USA

Publications

  1. ncbi request reprint A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly
    K R Johnson
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 7:1033-8. 1998
  2. ncbi request reprint A major gene affecting age-related hearing loss in C57BL/6J mice
    K R Johnson
    The Jackson Laboratory, Bar Harbor, ME 04609 1500, USA
    Hear Res 114:83-92. 1997
  3. pmc Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 12:3075-86. 2003
  4. pmc Ahl2, a second locus affecting age-related hearing loss in mice
    Kenneth R Johnson
    The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, 04609, USA
    Genomics 80:461-4. 2002
  5. ncbi request reprint Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome
    K R Johnson
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Hum Mol Genet 8:645-53. 1999
  6. ncbi request reprint Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5
    Kenneth R Johnson
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Genomics 81:6-14. 2003
  7. pmc The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC
    K R Johnson
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Genomics 85:582-90. 2005
  8. pmc Strain background effects and genetic modifiers of hearing in mice
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Brain Res 1091:79-88. 2006
  9. ncbi request reprint A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice
    K R Johnson
    The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, 04609 1500, USA
    Genomics 70:171-80. 2000
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications54

  1. ncbi request reprint A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly
    K 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...
  2. ncbi request reprint A major gene affecting age-related hearing loss in C57BL/6J mice
    K 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...
  3. pmc Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene
    Kenneth 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...
  4. pmc Ahl2, a second locus affecting age-related hearing loss in mice
    Kenneth 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...
  5. ncbi request reprint Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome
    K 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...
  6. ncbi request reprint Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5
    Kenneth 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...
  7. pmc The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC
    K 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...
  8. pmc Strain background effects and genetic modifiers of hearing in mice
    Kenneth 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...
  9. ncbi request reprint A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice
    K 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...
  10. ncbi request reprint 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...
  11. pmc The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome
    K 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...
  12. pmc Hearing loss associated with the modifier of deaf waddler (mdfw) locus corresponds with age-related hearing loss in 12 inbred strains of mice
    Q 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...
  13. ncbi request reprint Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac
    K 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...
  14. ncbi request reprint Lens epithelial proliferation cataract in segmental trisomy involving mouse Chromosomes 4 and 17
    R 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...
  15. ncbi request reprint A new mouse mutation causing male sterility and histoincompatibility
    P 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...
  16. pmc Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss
    A 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...
  17. ncbi request reprint Neuromuscular ataxia: a new spontaneous mutation in the mouse
    P 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...
  18. ncbi request reprint Genetic mapping of the IL-12 alpha chain gene (Il12a) on mouse chromosome 3
    P A Schweitzer
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Mamm Genome 7:394-5. 1996
  19. ncbi request reprint Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene
    S 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...
  20. ncbi request reprint Scrambler, a new neurological mutation of the mouse with abnormalities of neuronal migration
    H 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...
  21. ncbi request reprint Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain
    L 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...
  22. ncbi request reprint Grey intense: a new mouse mutation affecting pigmentation
    M T Davisson
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Mamm Genome 11:1139-41. 2000
  23. pmc A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9
    Chantal Longo-Guess
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hear Res 234:21-8. 2007
    ....
  24. ncbi request reprint A new allelic series for the underwhite gene on mouse chromosome 15
    H 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...
  25. pmc A new spontaneous mouse mutation in the Kcne1 gene
    V 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...
  26. pmc A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice
    Chantal 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...
  27. pmc 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...
  28. ncbi request reprint Balding: a new mutation on mouse chromosome 18 causing hair loss and immunological defects
    M T Davisson
    Jackson Laboratory, Bar Harbor, ME 04609
    J Hered 85:134-6. 1994
  29. ncbi request reprint Dense incisors (din): a new mouse mutation on chromosome 16 affecting tooth eruption and body size
    H 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...
  30. pmc A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice
    K 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...
  31. ncbi request reprint Maid: a maternally transcribed novel gene encoding a potential negative regulator of bHLH proteins in the mouse egg and zygote
    S 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...
  32. ncbi request reprint Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9
    R T Bronson
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Am J Med Genet 77:289-97. 1998
    ....
  33. pmc Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
    Qing 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...
  34. ncbi request reprint Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration
    S 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...
  35. pmc Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation
    Chantal M Longo-Guess
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Mamm Genome 18:646-56. 2007
    ....
  36. ncbi request reprint Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2
    Kenneth 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...
  37. pmc New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice
    Bettina Lorenz-Depiereux
    Institute of Human Genetics, GSF National Research Center, M√ľnchen 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...
  38. pmc A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice
    Kenneth 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...
  39. pmc A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis
    Leah 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...
  40. pmc Separate and combined effects of Sod1 and Cdh23 mutations on age-related hearing loss and cochlear pathology in C57BL/6J mice
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hear Res 268:85-92. 2010
    ....
  41. ncbi request reprint The interleukin-12 beta subunit (p40) maps to mouse chromosome 11
    N Noben-Trauth
    The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
    Mamm Genome 7:392. 1996
  42. pmc The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia
    Thomas 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...
  43. ncbi request reprint The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function
    Leona 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...
  44. pmc A novel spontaneous mutation of Irs1 in mice results in hyperinsulinemia, reduced growth, low bone mass and impaired adipogenesis
    Victoria 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...
  45. ncbi request reprint Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid mice
    I 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...
  46. ncbi request reprint Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse
    Alfredo 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...
  47. pmc A comparison of vestibular and auditory phenotypes in inbred mouse strains
    Sherri 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...
  48. pmc Cu/Zn superoxide dismutase and age-related hearing loss
    Elizabeth 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...
  49. pmc Age-related hearing loss and the ahl locus in mice
    Elizabeth 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...
  50. ncbi request reprint Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6
    Kristina 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...
  51. pmc Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
    Konrad 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...
  52. pmc A quantitative survey of gravity receptor function in mutant mouse strains
    Sherri 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...
  53. ncbi request reprint Gravity receptor function in mice with graded otoconial deficiencies
    Sherri 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...
  54. ncbi request reprint Acoustic startle and prepulse inhibition in 40 inbred strains of mice
    James 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...