Study of Stargardt Disease-3 in Mice
Author Information
Author(s): Anne McMahon, Igor A. Butovich, Nathan L. Mata, Martin Klein, Robert Ritter III, James Richardson, David G. Birch, Albert O. Edwards, Wojciech Kedzierski
Primary Institution: University of Texas Southwestern Medical Center
Hypothesis
The study aims to generate and characterize mice with a human STGD3 mutation in the Elovl4 gene.
Conclusion
The Stgd3-knockin mice replicate features of human STGD3, including lipofuscin accumulation and reduced visual function.
Supporting Evidence
- Heterozygous Stgd3 mice showed accumulation of lipofuscin and reduced visual function.
- Homozygous Stgd3 mice died shortly after birth with skin barrier defects.
- All four epidermal layers were present in homozygous Stgd3 mice, but acylceramides were absent.
Takeaway
Scientists created special mice to study a disease that affects vision, and they found that these mice showed similar problems as people with the disease.
Methodology
The study involved generating Stgd3-knockin mice using a DNA construct with specific mutations, followed by various analyses including Southern blot and electroretinographic assessments.
Limitations
The study was limited by the neonatal lethality of homozygous Stgd3 mice, restricting the analysis of their phenotypic changes.
Statistical Information
P-Value
p<0.003
Statistical Significance
p<0.003
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