GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:21521437
| Citation |
Busse, C, Barnett, KC, Mellersh, CS and Adams, VJ (2011) Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. Vet Ophthalmol 14:146-52 |
|---|---|
| Abstract |
To investigate ophthalmic and cone-derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds (MLHD) homozygous for a mutation in the RPGRIP1 gene previously associated with cone-rod dystrophy 1 (cord1). |
| Links |
PubMed Online version:10.1111/j.1463-5224.2010.00848.x |
| Keywords |
Animals; Case-Control Studies; Dog Diseases/genetics; Dog Diseases/pathology; Dogs/genetics; Electroretinography/veterinary; Genetic Predisposition to Disease; Genotype; Homozygote; Mutation; Proteins/genetics; Proteins/metabolism; Retinitis Pigmentosa/genetics; Retinitis Pigmentosa/pathology; Retinitis Pigmentosa/veterinary |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0050908: detection of light stimulus involved in visual perception |
ECO:0000315: |
P |
Table 2 and Figure 3 show that the amplitudes of the 30Hz flicker response were significantly reduced in the dogs homozygous for the RPGRIP1 mutation compared to the control group. |
complete | ||||
|
involved_in |
GO:0050908: detection of light stimulus involved in visual perception |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
See also
References
See Help:References for how to manage references in GONUTS.
