June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Identification of mouse mutant lacking cone vision.
Author Affiliations & Notes
  • Catherine Cobb
    Biochemistry and Molecular Genetics, University of Louisville, Louisville, Kentucky, United States
  • Nazarul Hasan
    Biochemistry and Molecular Genetics, University of Louisville, Louisville, Kentucky, United States
  • Rui Ji
    Biochemistry and Molecular Genetics, University of Louisville, Louisville, Kentucky, United States
  • Timothy Hoffman
    Biochemistry and Molecular Genetics, University of Louisville, Louisville, Kentucky, United States
  • Ronald G Gregg
    Biochemistry and Molecular Genetics, University of Louisville, Louisville, Kentucky, United States
    Opthalmology and Visual Sciences , University of Louisville, Louisville, Kentucky, United States
  • Footnotes
    Commercial Relationships   Catherine Cobb, None; Nazarul Hasan, None; Rui Ji, None; Timothy Hoffman, None; Ronald Gregg, None
  • Footnotes
    Support  EY012354-16
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 1025. doi:
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    • Get Citation

      Catherine Cobb, Nazarul Hasan, Rui Ji, Timothy Hoffman, Ronald G Gregg; Identification of mouse mutant lacking cone vision.. Invest. Ophthalmol. Vis. Sci. 2017;58(8):1025.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : The goal of the research in the laboratory is to characterize proteins that are required for normal retinal function, and in particular those containing leucine rich repeats (LRR). Proteins containing these domains have been targeted because two such genes, Nyctalopin and LRIT3, contain LRRs, and mutations in these genes lead to the complete form of congential stationary night blindness because they are critical to depolarizing bipolar cell function. Because large numbers of such proteins are expressed in the retina we hypothesize others will have similar function.

Methods : We are using CRISPR/Cas9 screens to create mouse mutants lacking multiple LRR proteins. gRNAs that target multiple genes are injected into mouse embryos, and the founders are bred. After appropriate crosses are made, we identify mutant mice of interest using the ERG. In each mouse line that has an abnormal ERG we examine overall retinal structure, and the localization of DBC synaptic components including the markers PNA, pikachurin, ribeye, GPR179, and cone arrestin (mCAR).

Results : We have identified a mouse line that has a normal scotopic ERG, but lacks photopic a- and b-waves. This suggests either non-functional cones or a complete absence of cones. We examined this by staining for the cone outer segment and synaptic marker PNA and mCAR. The results showed that the gross morphology of the retina is normal and that cones are present in normal numbers. We also examined expression of the DBC synaptic markers pikachurin and ribeye. All showed a pattern indistinguishable from that in littermates that had a normal ERG.

Conclusions : The experiments have identified a new no-cone ERG mutant mouse line that has normal cone morphology. Current efforts are focused on using genetic and next-generation sequencing strategies to identify the causative mutation.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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