The detail information of Cone-rod dystrophy 1
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2013
Species-specific name: -
Species-specific symbol: crd1
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB11 | American Staffordshire Terrier | 18-19 inches (male), 17-18 inches (female) | 55-70 pounds (male), 40-55 pounds (female) | United States |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| PDE6B | phosphodiesterase 6B, cGMP-specific, rod, beta | Canis lupus familiaris | Chr3 : 92774237 - 92746064 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2013 |
Goldstein,O.,Mezey,J.G.,Schweitzer,P.A.,Boyko,A.R.,Gao,C.,Bustamante,C.D.,Jordan,J.A.,Aguirre,G.D.,Acland,G.M.: :
IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci 54:7005-19, 2013. Pubmed reference: 24045995 . DOI: 10.1167/iovs.13-12915 . |
| 2012 |
Miyadera,K.,Acland,G.M.,Aguirre,G.D.: :
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099 . DOI: 10.1007/s00335-011-9361-3 . |
| 2004 |
Kijas,J.W.,Zangerl,B.,Miller,B.,Nelson,J.,Kirkness,E.F.,Aguirre,G.D.,Acland,G.M.: :
Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis 10:223-32, 2004. Pubmed reference: 15064680 . |