Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Video

Updated: Oct 5, 2025

Imaging Ca2+ Dynamics in Cone Photoreceptor Axon Terminals of the Mouse Retina
09:05

Imaging Ca2+ Dynamics in Cone Photoreceptor Axon Terminals of the Mouse Retina

Published on: May 6, 2015

10.9K

Retinal Development and Pathophysiology in Kcnj13 Knockout Mice.

Xiaodong Jiao1, Zhiwei Ma1, Jingqi Lei2

  • 1Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States.

Frontiers in Cell and Developmental Biology
|January 31, 2022
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Precision therapeutic tRNA rescue of nonsense mutation R166X in <i>KCNJ13</i> to restore K<sup>+</sup> channel function.

Journal of precision medicine (Amsterdam, Netherlands)·2026
Same author

Mitofusins are required for specialized mitochondrial morphology and function of rod photoreceptor cells.

Frontiers in cell and developmental biology·2026
Same author

Engineered tRNA reduces vision loss in a mouse model of Leber congenital amaurosis.

Signal transduction and targeted therapy·2026
Same author

Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis.

Ophthalmology science·2026
Same author

Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction.

International journal of biological sciences·2026
Same author

Controlling CRISPR-Cas9 genome editing in human cells using a molecular glue degrader.

Molecular therapy. Nucleic acids·2025

Knockout mice for KCNJ13 (Kir7.1 channel) reveal its critical role in photoreceptor maintenance, offering a model for Snowflake Vitreoretinal Degeneration (SVD) and Retinitis Pigmentosa (RP) gene therapy.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Mutations in KCNJ13, encoding the Kir7.1 potassium channel, are linked to Snowflake Vitreoretinal Degeneration (SVD) and Retinitis Pigmentosa (RP).
  • Understanding KCNJ13's role is crucial for elucidating retinal disease pathology and developing therapeutic strategies.

Purpose of the Study:

  • To construct and characterize KCNJ13 knockout and conditional knockout mouse models.
  • To investigate the function of KCNJ13 in retinal development and maintenance.
  • To establish a preclinical model for gene therapy trials targeting SVD and RP.

Main Methods:

  • Generated Kcnj13 knockout mice using a gene trap strategy.
  • Created conditional knockout mice by crossing with Cre-expressing mice (VMD2 promoter).
Keywords:
kcnj13/kir7.1retinaretinal degenerationretinal dystrophysnowflake vitreoretinal dystrophy

More Related Videos

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
11:22

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

Published on: December 22, 2014

18.0K
Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog
09:29

Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog

Published on: October 13, 2023

1.6K

Related Experiment Videos

Last Updated: Oct 5, 2025

Imaging Ca2+ Dynamics in Cone Photoreceptor Axon Terminals of the Mouse Retina
09:05

Imaging Ca2+ Dynamics in Cone Photoreceptor Axon Terminals of the Mouse Retina

Published on: May 6, 2015

10.9K
Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
11:22

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

Published on: December 22, 2014

18.0K
Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog
09:29

Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog

Published on: October 13, 2023

1.6K
  • Assessed Kcnj13 expression patterns and performed lentiviral gene replacement.

    • Main Results:

    • Kcnj13 knockout mice exhibited progressive retinal degeneration, including photoreceptor loss and thinning of retinal layers.
    • Fundoscopy, OCT, and ERG recordings confirmed severe visual impairment consistent with RP.
    • Lentiviral Kcnj13 replacement partially restored ERG function, specifically the c-wave.

    Conclusions:

    • Ocular KCNJ13 is essential for the maintenance of photoreceptors by the retinal pigment epithelium (RPE).
    • Loss of KCNJ13 leads to photoreceptor degeneration and functional vision loss, mimicking aspects of RP.
    • The developed mouse model provides a valuable platform for evaluating gene therapies for KCNJ13-associated retinal diseases.