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 Videos

A transgenic mouse model for human autosomal dominant cataract.

Cheng-Da Hsu1, Steven Kymes, J Mark Petrash

  • 1Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, USA.

Investigative Ophthalmology & Visual Science
|April 28, 2006
PubMed
Summary

Expression of mutant alphaA-crystallin subunits in mice causes cataracts and posterior suture defects. Even low levels of these mutant proteins are sufficient to induce these lens opacities and abnormalities.

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

Identification of a common ketohexokinase-dependent link driving alcohol intake and alcohol-associated liver disease in mice.

Nature metabolism·2025
Same author

Leveraging Big Data to Improve Patient Care.

JAMA ophthalmology·2025
Same author

Migraine-Related Burden, Treatment Interventions, and Healthcare Experiences by Race and Ethnicity: Results of the Migraine Report Card Survey.

Journal of racial and ethnic health disparities·2025
Same author

Dexamethasone mitigates sulfur mustard-induced stem cell deficiency in vivo in rabbit limbal tissue by reducing inflammation and oxidative stress.

Archives of toxicology·2025
Same author

Human Breast Milk Enhances Cellular Proliferation in Cornea Wound Healing.

Current eye research·2024
Same author

Headache/migraine-related stigma, quality of life, disability, and most bothersome symptom in adults with current versus previous high-frequency headache/migraine and medication overuse: results of the Migraine Report Card survey.

BMC neurology·2024

Area of Science:

  • Ophthalmology
  • Genetics
  • Biochemistry

Background:

  • AlphaA-crystallin is a major structural protein in the eye lens.
  • Mutations in alphaA-crystallin are associated with inherited cataracts.
  • Understanding the role of alphaA-crystallin mutations is crucial for cataract research.

Purpose of the Study:

  • To investigate the effects of expressing mutant (R116C) and wild-type human alphaA-crystallin subunits in the lenses of transgenic mice.
  • To characterize the resulting lens phenotypes, including opacities and fiber cell morphology.

Main Methods:

  • Created transgenic mouse strains expressing mutant (R116C) and wild-type human alphaA-crystallin.
  • Phenotypically scored lenses for opacities and suture morphology.
  • Utilized RT-PCR, immunohistochemistry, and quantitative Western blot to analyze gene expression and protein distribution.

Related Experiment Videos

Main Results:

  • Expression of R116C mutant alphaA-crystallin caused posterior cortical cataracts and posterior suture abnormalities.
  • Lens abnormalities were observed even at low expression levels of the mutant protein.
  • Lenses expressing wild-type alphaA-crystallin were indistinguishable from controls.

Conclusions:

  • Mutant R116C alphaA-crystallin subunits induce lens opacities and posterior sutural defects when expressed with wild-type endogenous alpha-crystallins.
  • Low expression levels of mutant R116C alphaA-crystallin are sufficient to cause significant lens pathology.
  • These findings highlight the critical role of alphaA-crystallin structure and function in maintaining lens clarity.