The detail information of Rod-cone dysplasia 3
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: 1999
Species-specific name: -
Species-specific symbol: rcd3
More detail information can see in
Associated Breeds
iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
---|---|---|---|---|---|---|
CB63 | Cardigan Welsh Corgi | 26.7-31.8 cm | 13.6-17.2 kg (male), 11.3-15.4 kg (female) | Wales |
Associated Gene
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
PDE6A | phosphodiesterase 6A, cGMP-specific, rod, alpha | Canis lupus familiaris | Chr4 : 59584148 - 59644927 | 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.
2017 |
Mowat,F.M.,Occelli,L.M.,Bartoe,J.T.,Gervais,K.J.,Bruewer,A.R.,Querubin,J.,Dinculescu,A.,Boye,S.L.,Hauswirth,W.W.,Petersen-Jones,S.M.: :
Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa. Front Neurosci 11:342, 2017. Pubmed reference: 28676737 . DOI: 10.3389/fnins.2017.00342 . |
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 . |
2009 |
Tuntivanich,N.,Pittler,SJ.,Fischer,AJ.,Omar,G.,Kiupel,M.,Weber,AJ.,Yao,S.,Steibel,JP.,WaliKhan,N.,Petersen-Jones,S.: :
Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Invest Ophthalmol Vis Sci 50:801-813, 2009. Pubmed reference: 18775863 . DOI: 10.1167/iovs.08-2562 . |
2000 |
Petersen-Jones,S.M.,Zhu,F.X.: :
Development and use of a polymerase chain reaction-based diagnostic test for the causal mutation of progressive retinal atrophy in Cardigan Welsh Corgis American Journal of Veterinary Research 61:844-846, 2000. Pubmed reference: 10895911 . |
1999 |
Petersen-Jones,S.M.,Entz,D.D.,Sargan,D.R.: :
CGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog Investigative Ophthalmology & Visual Science 40:1637-1644, 1999. Pubmed reference: 10393029 . |
1972 |
Keep,J.M.: :
Clinical aspects of progressive retinal atrophy in the Cardigan Welsh Corgi Australian Veterinary Journal 48:197-199, 1972. Pubmed reference: 5082485 . |