Kenneth Johnson

Summary

Affiliation: The Jackson Laboratory
Country: USA

Publications

  1. pmc A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME, 04609, USA
    Mamm Genome 27:200-12. 2016
  2. pmc A QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME, 04609, USA
    Mamm Genome 26:338-47. 2015
  3. pmc Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene
    Kenneth R Johnson
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, 04609, USA
    J Assoc Res Otolaryngol 15:45-55. 2014
  4. pmc Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, Maine, USA
    PLoS ONE 7:e36074. 2012
  5. pmc Association of a citrate synthase missense mutation with age-related hearing loss in A/J mice
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME04609, USA
    Neurobiol Aging 33:1720-9. 2012
  6. pmc Notch signalling in the paraxial mesoderm is most sensitive to reduced Pofut1 levels during early mouse development
    Karin Schuster-Gossler
    Institute for Molecular Biology, Medizinische Hochschule Hannover, Carl Neuberg Str, 1, D 30625, Germany
    BMC Dev Biol 9:6. 2009
  7. pmc Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass
    Robert J Munroe
    Department of Biomedical Sciences, Cornell University, Ithaca, New York 14853, USA
    BMC Dev Biol 9:27. 2009
  8. 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
  9. 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
  10. 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

Research Grants

  1. The Mouse as a Tool for Ear Research
    Kenneth Johnson; Fiscal Year: 2003
  2. The Mouse as an Instrument for Ear Research II
    Kenneth Johnson; Fiscal Year: 2005
  3. The Mouse as an Instrument in Hearing Research III
    Kenneth Johnson; Fiscal Year: 2008

Collaborators

Detail Information

Publications34

  1. pmc A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME, 04609, USA
    Mamm Genome 27:200-12. 2016
    ..Ap1g1 (fgt) mutant mice provide a new animal model to study the in vivo roles of gamma-1 adaptin and the AP-1 complex throughout development and to investigate factors that underlie its associated phenotypic abnormalities. ..
  2. pmc A QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME, 04609, USA
    Mamm Genome 26:338-47. 2015
    ....
  3. pmc Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene
    Kenneth R Johnson
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, 04609, USA
    J Assoc Res Otolaryngol 15:45-55. 2014
    ..The Tpo mutant strains described here provide new heritable mouse models of congenital hypothyroidism that will be valuable for future studies of thyroid hormones' role in auditory development and function...
  4. pmc Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, Maine, USA
    PLoS ONE 7:e36074. 2012
    ..Our finding connecting ELMOD1 deficiencies with stereocilia dysmorphologies thus establishes a link between the Ras superfamily of small regulatory GTPases and the actin cytoskeleton dynamics of hair cell stereocilia...
  5. pmc Association of a citrate synthase missense mutation with age-related hearing loss in A/J mice
    Kenneth R Johnson
    The Jackson Laboratory, Bar Harbor, ME04609, USA
    Neurobiol Aging 33:1720-9. 2012
    ..The A/J mouse thus provides a new model system for in vivo studies of mitochondrial function and hearing loss...
  6. pmc Notch signalling in the paraxial mesoderm is most sensitive to reduced Pofut1 levels during early mouse development
    Karin Schuster-Gossler
    Institute for Molecular Biology, Medizinische Hochschule Hannover, Carl Neuberg Str, 1, D 30625, Germany
    BMC Dev Biol 9:6. 2009
    ..Whether the context-dependent effects of Notch receptor glycosylation by FNG reflect different requirements of distinct developmental processes for O-fucosylation by POFUT1 is unclear...
  7. pmc Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass
    Robert J Munroe
    Department of Biomedical Sciences, Cornell University, Ithaca, New York 14853, USA
    BMC Dev Biol 9:27. 2009
    ..These tandemly duplicated genes have functional overlap as indicated by the loss of the entire vestibular system in double mutants. Mutants have not been described for Hmx1, the most divergent of the family...
  8. 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
    ....
  9. 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...
  10. 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...
  11. 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
    ....
  12. 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...
  13. 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...
  14. 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...
  15. 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
    ....
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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...

Research Grants3

  1. The Mouse as a Tool for Ear Research
    Kenneth Johnson; Fiscal Year: 2003
    ..abstract_text> ..
  2. The Mouse as an Instrument for Ear Research II
    Kenneth Johnson; Fiscal Year: 2005
    ..Ultimately, this meeting will bring students and established investigators, with varying expertise and experience, together to discuss their research findings, identify areas of common research interest and develop future directions. ..
  3. The Mouse as an Instrument in Hearing Research III
    Kenneth Johnson; Fiscal Year: 2008
    ..Promoting the responsible use of appropriate models is critical to the development of effective new therapeutic approaches to treating human disease. [unreadable] [unreadable] [unreadable] [unreadable]..