Double homozygous waltzer and Ames waltzer mice show no retinal degeneration
Author Information
Author(s): Ahmed Zubair M., Kjellstrom Sten, Haywood-Watson Ricky J. L. II, Bush Ronald A., Hampton Lori L., Battey James F., Riazuddin Saima, Frolenkov Gregory, Sieving Paul A., Friedman Thomas B.
Primary Institution: National Institute on Deafness and Other Communication Disorders
Hypothesis
Does homozygosity for both v and av mutant alleles cause retinal degeneration or an obvious retinal histopathology?
Conclusion
The presence of homozygous mutant alleles of cadherin 23 and protocadherin 15 results only in deafness, not retinal degeneration.
Supporting Evidence
- Electroretinograms showed no significant differences in retinal responses between double homozygous and control mice.
- Histological evaluations revealed no retinal degeneration in double homozygous mice.
- Double homozygous mice exhibited expected deafness but no additional pathophysiology.
Takeaway
The study found that mice with two specific genetic mutations were deaf but did not have any eye problems.
Methodology
Mice were generated homozygous for both Cdh23v-6J and Pcdh15av-Jfb alleles, and their retinal phenotypes were evaluated using light microscopy and electroretinography.
Limitations
The study does not address potential long-term effects beyond the observed age of the mice.
Participant Demographics
Mice used were male, specifically P120 age.
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