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Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses
A large-scale, auditory screening project is being undertaken at The Jackson Laboratory (TJL) to identify mice with inherited hearing disorders, and this large database establishes a reliable reference for normal hearing mouse strains. Expand
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function
It is shown here that the murine extension locus encodes the melanocyte-stimulating hormone (MSH) receptor, and that the Eso-3J receptor is constitutively activated, while the Etob receptor remains hormone responsive and produces a greater activation of its effector than does the wild-type allele. Expand
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
A synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler) is found. Expand
TMHS Is an Integral Component of the Mechanotransduction Machinery of Cochlear Hair Cells
It is shown that mechanotransduction is impaired in mice lacking the tetraspan TMHS, which resembles other ion channel regulatory subunits such as the transmembrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor regulatory proteins (TARPs) of AMPA receptors that facilitate channel transport and regulate the properties of pore-forming channel subunits. Expand
The R109H Variant of Fascin-2, a Developmentally Regulated Actin Crosslinker in Hair-Cell Stereocilia, Underlies Early-Onset Hearing Loss of DBA/2J Mice
The quantitative trait locus ahl8 is a key contributor to the early-onset, age-related hearing loss of DBA/2J mice. A nonsynonymous nucleotide substitution in the mouse fascin-2 gene (Fscn2) isExpand
Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.
The Ush1c mutant mice described here provide a means to directly investigate protein interactions in vivo and to evaluate gene structure-function relationships that affect inner ear and eye phenotypes, as well as to mapped two new recessive mutations causing circling behavior and deafness to the same region on chromosome 7. Expand
A major gene affecting age-related hearing loss in C57BL/6J mice
Ahl is the first gene causing late-onset, non-syndromic hearing loss that has been reported in the mouse, and it is reported that this gene is a recessive, primarily single-gene trait. Expand
Acoustic startle and prepulse inhibition in 40 inbred strains of mice.
The data on both the ASR and PPI had high internal and test-retest reliability and showed large differences among inbred strains, indicative of strong genetic influences. Expand
A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant
The positional cloning of Dac is reported and it is shown that it belongs to the F-box/WD40 gene family, which encodes adapters that target specific proteins for destruction by presenting them to the ubiquitination machinery. Expand
The Chloride Intracellular Channel Protein CLIC5 Is Expressed at High Levels in Hair Cell Stereocilia and Is Essential for Normal Inner Ear Function
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. Expand