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PMID:18775863

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Citation

Tuntivanich, N, Pittler, SJ, Fischer, AJ, Omar, G, Kiupel, M, Weber, A, Yao, S, Steibel, JP, Khan, NW and Petersen-Jones, SM (2009) Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Invest. Ophthalmol. Vis. Sci. 50:801-13

Abstract

To characterize a canine model of autosomal recessive RP due to a PDE6A gene mutation.

Links

PubMed Online version:10.1167/iovs.08-2562

Keywords

Animals; Blotting, Western/veterinary; Breeding; Cyclic Nucleotide Phosphodiesterases, Type 6/genetics; Disease Models, Animal; Dog Diseases/genetics; Dog Diseases/physiopathology; Dogs; Electroretinography/veterinary; Female; Genes, Recessive; Immunohistochemistry/veterinary; In Situ Nick-End Labeling; Male; Point Mutation; Retina/physiopathology; Retinitis Pigmentosa/genetics; Retinitis Pigmentosa/physiopathology; Retinitis Pigmentosa/veterinary

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

CANFA:PDE6A

GO:0050908: detection of light stimulus involved in visual perception

ECO:0000315:

P

Figure 4: Average dark adapted a- and b- ERG wave amplitudes from mutant PDE6A puppies peaked at three weeks of age and were significantly smaller than control puppies of the same age. Mean light adapted a-wave amplitudes of affected dogs were lower than normal dogs at 3 weeks of age and decreased with increasing age.

complete
CACAO 4054


See also

References

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