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Spontaneous Allelic Variant In Deafness–Blindness Gene Ush1g Resulting In An Expanded Phenotype, Vladimir Vartanian, Jocelyn F. Krey, Paroma Chatterjee, Allison Curtis, Makayla Six, Sean P. M. Rice, Sherri M. Jones, Harini Sampath, Charles N. Allen, Renee C. Ryals, R. Stephen Lloyd, Peter G. Barr-Gillespie

Department of Special Education and Communication Disorders: Faculty Publications

Relationships between novel phenotypic behaviors and specific genetic alterations are often discovered using target-specific, directed mutagenesis or phenotypic selection following chemical mutagenesis. An alternative approach is to exploit deficiencies in DNA repair pathways that maintain genetic integrity in response to spontaneously induced damage. Mice deficient in the DNA glycosylase NEIL1 show elevated spontaneous mutations, which arise from translesion DNA synthesis past oxidatively induced base damage. Several litters of Neil1 knockout mice included animals that were distinguished by their backwards-walking behavior in open-field environments, while maintaining frantic forward movements in their home cage environment. Other phenotypic manifestations included swim test failures, …

Differential Effects Of Cdh23753a On Auditory And Vestibular Functional Aging In C57bl/6j Mice, Bruce E. Mock, Sarath Vijayakumar, Jessica Pierce, Timothy A. Jones, Sherri M. Jones

Department of Special Education and Communication Disorders: Faculty Publications

The C57BL/6J (B6) mouse strain carries a cadherin 23 mutation (Cdh23^753A, also known as Ahl), which affects inner ear structures and results in age-related hearing loss. The B6.CAST strain harbors the wild type Cdh23 gene, and hence, the influence of Ahl is absent. The purpose of the present study was to characterize the effect of age and gender on gravity receptor function in B6 and B6.CAST strains and to compare functional aging between auditory and vestibular modalities. Auditory sensitivity declined at significantly faster rates than gravity receptor sensitivity for both strains. Indeed, vestibular functional aging was …

Deletion Of Shank1 Has Minimal Effects On The Molecular Composition And Function Of Glutamatergic Afferent Postsynapses In The Mouse Inner Ear, Jeremy P. Braude, Sarath Vijayakumar, Katherine Baumgarner, Rebecca Laurine, Timothy A. Jones, Sherri M. Jones, Sonya J. Pyott

Department of Special Education and Communication Disorders: Faculty Publications

Abstract

Shank proteins (1-3) are considered the master organizers of glutamatergic postsynaptic densities in the central nervous system, and the genetic deletion of either Shank1, 2, or 3 results in altered composition, form, and strength of glutamatergic postsynapses. To investigate the contribution of Shank proteins to glutamatergic afferent synapses of the inner ear and especially cochlea, we used immunofluorescence and quantitative real time PCR to determine the expression of Shank1, 2, and 3 in the cochlea. Because we found evidence for expression of Shank1 but not 2 and 3, we investigated the morphology, composition, and function of afferent postsynaptic densities …