Genomes and Genes
Affiliation: The Jackson Laboratory
- Schuster Gossler K, Harris B, Johnson K, Serth J, Gossler A. Notch signalling in the paraxial mesoderm is most sensitive to reduced Pofut1 levels during early mouse development. BMC Dev Biol. 2009;9:6 pubmed publisher..Reduced POFUT1 levels might affect Notch trafficking or overall O-fucosylation. Alternatively, reduced O-fucosylation might preferentially affect sites that are substrates for LFNG and thus important for somite formation and patterning. ..
- Munroe R, Prabhu V, Acland G, Johnson K, Harris B, O Brien T, et al. Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. BMC Dev Biol. 2009;9:27 pubmed publisher..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...
- Johnson K, Marden C, Ward Bailey P, Gagnon L, Bronson R, Donahue L. Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. Mol Endocrinol. 2007;21:1593-602 pubmed..Hearing thresholds of adult mutant mice are on average 50-60 decibels (dB) above those of controls. ..
- Johnson K, Yu H, Ding D, Jiang H, Gagnon L, Salvi R. Separate and combined effects of Sod1 and Cdh23 mutations on age-related hearing loss and cochlear pathology in C57BL/6J mice. Hear Res. 2010;268:85-92 pubmed publisher....
- Johnson K, Longo Guess C, Gagnon L, Yu H, Zheng Q. 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. Genomics. 2008;92:219-25 pubmed publisher..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. ..
- Johnson K, Gagnon L, Longo Guess C, Kane K. Association of a citrate synthase missense mutation with age-related hearing loss in A/J mice. Neurobiol Aging. 2012;33:1720-9 pubmed publisher..The A/J mouse thus provides a new model system for in vivo studies of mitochondrial function and hearing loss. ..
- Johnson K, Longo Guess C, Gagnon L. A QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice. Mamm Genome. 2015;26:338-47 pubmed publisher....
- Johnson K, Gagnon L, Chang B. A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice. Mamm Genome. 2016;27:200-12 pubmed publisher..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. ..
- Johnson K, Gagnon L, Tian C, Longo Guess C, Low B, Wiles M, et al. Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice. Genetics. 2018;208:1165-1179 pubmed publisher..i>Slc25a13hspn/hspn mice provide a new animal model for studying long-range enhancer effects on Dlx5 expression in the developing inner ear. ..
- Johnson K, Longo Guess C, Gagnon L. Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia. PLoS ONE. 2012;7:e36074 pubmed publisher..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. ..
- Johnson K, Gagnon L, Longo Guess C, Harris B, Chang B. Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene. J Assoc Res Otolaryngol. 2014;15:45-55 pubmed publisher..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. ..