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Human Molecular Genetics, 2002, Vol. 11, No. 9 1005-1016
© 2002 Oxford University Press

Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds–peripherin gene

Niamh McNally1,*, Paul F. Kenna1, Derrick Rancourt2, Tanweer Ahmed3, Alan Stitt4, William H. Colledge5, David G. Lloyd6, Arpad Palfi1, Brian O'Neill1, Marian M. Humphries1, Peter Humphries1 and G. Jane Farrar1

1The Ocular Genetics Unit, Trinity College Dublin, Dublin 2, Ireland, 2Southern Alberta Cancer Research Centre, Department of Biochemistry and Molecular Biology, University of Calgary, Alberta, Canada T2N 4N1, 3School of Biochemistry, University of Leeds, Leeds LS2 9JT, UK, 4Department of Ophthalmology, The Queen's University of Belfast, Belfast, UK, 5Department of Physiology, University of Cambridge, UK and 6Pharmaceutical Chemistry Department, School of Pharmacy, Trinity College Dublin, Dublin 2, Ireland

We introduced a targeted single base deletion at codon 307 of the rds–peripherin gene in mice, similar mutations being known to cause autosomal dominant retinitis pigmentosa (RP) in man. Histopathological and electroretinographic analysis indicate that the retinopathy in mice homozygous for the codon 307 mutation appears more rapid than that in the naturally occurring null mutant, the rds-/- mouse, suggesting that the rds-307 mutation displays a dominant negative phenotype in combination with that due to haplosufficiency. RP is the most prevalent cause of registered visual handicap in those of working age in developed countries, the 50 or so mutations so far identified within the RDS–peripherin gene accounting for up to 10% of dominant cases of the disease. Given the sequence homologies that exist between the murine rds–peripherin and the human RDS–peripherin gene, this disease model, the first to be generated for peripherin-based RP using gene targeting techniques, should in principle be of value in the work-up in mice of therapeutics capable of targeting transcripts derived from the human gene.

* To whom correspondence should be addressed. Tel:+353 1 6082484; Email: mcnallyn{at}tcd.ie


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