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Goldstein, O, Mezey, JG, Boyko, AR, Gao, C, Wang, W, Bustamante, CD, Anguish, LJ, Jordan, JA, Pearce-Kelling, SE, Aguirre, GD and Acland, GM (2010) An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. Mol. Vis. 16:1549-69
To identify the causative mutation in a canine cone-rod dystrophy (crd3) that segregates as an adult onset disorder in the Glen of Imaal Terrier breed of dog.
ADAM Proteins/genetics; ADAM Proteins/metabolism; Animals; Breeding; Computational Biology; DNA Mutational Analysis; Dog Diseases/enzymology; Dog Diseases/genetics; Dog Diseases/physiopathology; Dogs; Electroretinography; Gene Expression Profiling; Gene Expression Regulation; Genetic Testing; Genome-Wide Association Study; Homozygote; Humans; Mutation/genetics; Phenotype; Retina/enzymology; Retina/pathology; Retina/ultrastructure; Retinitis Pigmentosa/enzymology; Retinitis Pigmentosa/genetics; Retinitis Pigmentosa/physiopathology; Retinitis Pigmentosa/veterinary
|Gene product||Qualifier||GO Term||Evidence Code||with/from||Aspect||Extension||Notes||Status|
|GO:0050908: detection of light stimulus involved in visual perception||
Figure 3: Establishes ADAM9 mutation in dogs affected with crd3 in this study. Figure 4: ADAM9 mutation is crd3 affected dogs causes a frame shift mutation resulting in a premature stop codon at base 6 of exon 17. Figure 1:By 15 months of age ERG dysfunction is detected as reduced 30Hz flicker cone responses in dogs affected with crd3 due to ADAM9 mutation, and at later ages by continued deterioration of cone and rod responses in these affected dogs.
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