© 2004 BMJ Publishing Group Ltd
EXTENDED REPORT
Mouse genetic corneal disease resulting from transgenic insertional mutagenesis
1 Centre of Ophthalmology-University of Coimbra, Biomedical Institute for Research in Light and Image, Coimbra, Portugal
2 Department of Ophthalmology, Division of Neurosciences and Psychological Medicine, Faculty of Medicine, Imperial College London, UK
3 Cell and Molecular Biology, Division of Biomedical Sciences, Imperial College London, UK
Correspondence to:
Correspondence to:
Professor M C Seabra
Cell and Molecular Biology Section, Division of Biomedical Sciences, Faculty of Medicine, Imperial College London, Sir Alexander Fleming Building, Exhibition Road, London SW7 2AZ, UK; m.seabra{at}imperial.ac.uk
Background/aims: To report the generation of a new mouse model for a genetically determined corneal abnormality that occurred in transgenesis experiments.
Methods: Transgenic mice expressing mutant forms of Rab27a, a GTPase that has been implicated in the pathogenesis of choroideremia, were generated.
Results: Only one transgenic line (T27aT15) exhibited an unexpected eye phenotype. T27aT15 mice developed corneal opacities, usually unilateral, and cataracts, resulting in some cases in phthisical eyes. Histologically, the corneal stroma was thickened and vacuolated, and both epithelium and endothelium were thinned. The posterior segment of the eye was also affected with abnormal pigmentation, vessel narrowing, and abnormal leakage of dye upon angiography but was histologically normal.
Conclusion: Eye abnormality in T27aT15 mice results from random insertional mutagenesis of the transgene as it was only observed in one line. The corneal lesion observed in T27aT15 mice most closely resembles posterior polymorphous corneal dystrophy and might result from the disruption of the equivalent mouse locus.
Keywords: corneal dystrophy; mutagenesis; transgenic mice
Abbreviations: PAS, periodic acid Schiff; PPCD, posterior polymorphous dystrophy
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