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 .