A missense mutation in Grm6 reduces but does not eliminate mGluR6 expression or rod depolarizing bipolar cell function-Reference-Cited by-同舟云学术

A missense mutation in Grm6 reduces but does not eliminate mGluR6 expression or rod depolarizing bipolar cell function

Published:2017-08-01 Issue:2 Volume:118 Page:845-854
ISSN:0022-3077
Container-title:Journal of Neurophysiology
language:en
Short-container-title:Journal of Neurophysiology

Author:

Peachey Neal S.¹²³,Hasan Nazarul⁴,FitzMaurice Bernard⁵,Burrill Samantha⁵,Pangeni Gobinda⁶,Karst Son Yong⁵,Reinholdt Laura⁵,Berry Melissa L.⁵,Strobel Marge⁵,Gregg Ronald G.⁴⁶,McCall Maureen A.⁶⁷,Chang Bo⁵

Affiliation:

1. Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio

2. Louis Stokes Cleveland Department of Veterans Affairs Medical Center, Cleveland, Ohio

3. Department of Ophthalmology, Cleveland Clinic College of Medicine of Case Western Reserve University, Cleveland, Ohio

4. Department of Biochemistry and Molecular Genetics, University of Louisville, Louisville, Kentucky

5. The Jackson Laboratory, Bar Harbor, Maine

6. Department of Ophthalmology and Visual Sciences, University of Louisville, Louisville, Kentucky

7. Department of Anatomical Sciences and Neurobiology, University of Louisville, Louisville, Kentucky

Abstract

This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a phenotype distinct from that seen in other Grm6 mouse models.

Funder

HHS | NIH | National Eye Institute (NEI)

U.S. Department of Veterans Affairs (VA)

Publisher

American Physiological Society

Subject

Physiology,General Neuroscience

Link

https://www.physiology.org/doi/pdf/10.1152/jn.00888.2016

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1. A small molecule mitigates hearing loss in a mouse model of Usher syndrome III

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