The detail information of Rod-cone dysplasia 1a
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: 2000
Species-specific name: -
Species-specific symbol: rcd1a
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB223 | Sloughi | 66-73.7 cm (male), 61-68.6 cm (female) | 15.9-22.7 kg | Morocco |
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.
| 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 . |
| 2000 |
Dekomien,G.,Runte,M.,Gödde,R.,Epplen,J.T.: :
Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000. Pubmed reference: 11124530 . DOI: 10.1159/000056785 . |