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Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
Ocular abnormalities in mice lacking the Ski proto-oncogene.
Peter McGannon1, Yasumasa Miyazaki, Pankaj C Gupta
1Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland, OH 44195, USA.
Investigative Ophthalmology & Visual Science
|September 28, 2006
Summary
A novel mouse model lacking the Ski proto-oncogene develops persistent hyperplastic primary vitreous (PHPV) and other ocular abnormalities, offering insights into human developmental eye disorders.
Area of Science:
- Developmental biology
- Ophthalmology
- Genetics
Background:
- Persistent hyperplastic primary vitreous (PHPV) is a congenital ocular malformation.
- PHPV often occurs with other ocular abnormalities.
- A novel mouse model for PHPV has been developed.
Purpose of the Study:
- To investigate the role of the Ski proto-oncogene in ocular development.
- To characterize ocular abnormalities in a novel Ski-/- mouse model.
- To compare findings in the mouse model to human PHPV and related conditions.
Main Methods:
- Morphologic and histologic analyses of Ski-/- mice.
- Immunohistochemical studies using markers like Pax6, beta-III tubulin, and Flk1.
- Comparison of ocular development in mutant and wild-type littermates.
Main Results:
- Ski-/- mice exhibited 100% incidence of PHPV and microphthalmia.
- Anterior segment dysgenesis, lens defects, retinal folds, and Peters anomaly were observed.
- PHPV tissue was vascular, lacked neuronal markers, and contained no pigmented cells.
Conclusions:
- Normal ocular development requires Ski proto-oncogene function.
- Ski-/- mice display features of human PHPV and Peters anomaly.
- Ski may regulate ocular development by modulating retinoic acid signaling.
