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PMID:20806078

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Citation

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

Abstract

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.

Links

PubMed PMC2925905

Keywords

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

Significance

Annotations

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

CANFA:E7AIM5

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

ECO:0000315:

P

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.

complete
CACAO 4175


See also

References

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