The detail information of Rod-cone dysplasia 2
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: 2009

Species-specific name: -

Species-specific symbol: rcd2

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB79 Collie 61-66 cm (male), 55.9-61 cm (female) 27.2-34 kg (male), 22.7-29.5 kg (female)
Associated Gene
Symbol Description Species Position Other Links
RD3 retinal degeneration 3 Canis lupus familiaris Chr7 : 9875980 - 9875369 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 .
2010 Azadi,S.,Molday,L.L.,Molday,R.S.: :
RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. Proc Natl Acad Sci U S A 107:21158-63, 2010.
Pubmed reference: 21078983 . DOI: 10.1073/pnas.1010460107 .
2009 Kukekova,AV.,Goldstein,O.,Johnson,JL.,Richardson,MA.,Pearce-Kelling,SE.,Swaroop,A.,Friedman,JS.,Aguirre,GD.,Acland,GM.: :
Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome 20:109-23, 2009.
Pubmed reference: 19130129 . DOI: 10.1007/s00335-008-9163-4 .
2006 Kukekova,AV.,Nelson,J.,Kuchtey,RW.,Lowe,JK.,Johnson,JL.,Ostrander,EA.,Aguirre,GD.,Acland,GM.: :
Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32. Invest Ophthalmol Vis Sci 47:1210-5, 2006.
Pubmed reference: 16505060 . DOI: 10.1167/iovs.05-0861 .
2002 Akhmedov,N.B.,Baldwin,V.J.,Zangerl,B.,Kijas,J.W.,Hunter,L.,Minoofar,K.D.,Mellersh,C.,Ostrander,E.A.,Acland,G.M.,Farber,D.B.,Aguirre,G.D.: :
Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog Molecular Vision 8:79-84, 2002.
Pubmed reference: 11951083 .
1999 Wang,W.Q.,Acland,G.M.,Ray,K.,Aguirre,G.D.: :
Evaluation of cGMP-phosphodiesterase (PDE) subunits for causal association with rod-cone dysplasia 2 (rcd2), a canine model of abnormal retinal cGMP metabolism Experimental Eye Research 69:445-453, 1999.
Pubmed reference: 10504278 . DOI: 10.1006/exer.1999.0720 .
1999 Wang,W.Q.,Zhang,Q.,Acland,G.M.,Mellersh,C.,Ostrander,E.A.,Ray,K.,Aguirre,G.D.: :
Molecular characterization and mapping of canine cGMP-phosphodiesterase delta subunit (PDE6D) Gene 236:325-332, 1999.
Pubmed reference: 10452952 .
1997 Akhmedov,N.B.,Piriev,N.I.,Ray,K.,Acland,G.M.,Aguirre,G.D.,Farber,D.B.: :
Structure and analysis of the transducin BETA-3-SUBUNIT gene, a candidate for inherited cone degeneration (cd) in the dog Gene 194:47-56, 1997.
Pubmed reference: 9266671 .
1997 Kylma,T.,Paulin,L.,Hurwitz,M.Y.,Hurwitz,R.L.,Kommonen,B.: :
Cloning and analysis of the cdna encoding the rod g-protein transducin alpha, BETA-1 and GAMMA-1 subunits from the canine retina Gene 193:1-4, 1997.
Pubmed reference: 9249060 .
1997 Ray,K.,Baldwin,V.J.,Zeiss,C.,Acland,G.M.,Aguirre,G.D.: :
Canine rod transducin ALPHA-1 - cloning of the cdna and evaluation of the gene as a candidate for progressive retinal atrophy Current Eye Research 16:71-77, 1997.
Pubmed reference: 9043826 .
1989 Acland,G.M.,Fletcher,R.T.,Gentleman,S.,Chader,G.J.,Aguirre,G.D.: :
Non-allelism of three genes (rcd1, rcd2, erd) for early-onset hereditary retinal degeneration Experimental Eye Research 49:983-998, 1989.
Pubmed reference: 2558906 .
1982 Woodford,B.J.,Liu,Y.,Fletcher,R.T.,Chader,G.J.,Farber,D.B.,Santos-Anderson,R.,Tso,M.O.: :
Cyclic nucleotide metabolism in inherited retinopathy in collies: a biochemical and histochemical study. Exp Eye Res 34:703-14, 1982.
Pubmed reference: 6282610 .