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. 2008 Mar 3;4:10. doi: 10.1186/1746-6148-4-10

Table 1.

Genes involved in canine retinopathies and in the Collie Eye anomaly, specifying the affected breeds and mutations.

Gene Chromosome Disease Affected breeds Mutation References
PDE6B
Phosphodiesterase β subunit
CFA3 Rod cone dysplasia
Type 1 (rcd1 et rcd1a)
Irish Setter (rcd1) Nonsense W807X [37]
Sloughi (rcd1a) 8 nucleotide insertion [38]
PDE6A
Phosphodiesterase α subunit
CFA4 Rod cone dysplasia
Type 3 (rcd3)
Cardigan Welsh Corgi Del A1939 [39]
RHO
Rhodopsin
CFA20 Dominant PRA English Mastiff
Bullmastiff
T4R
T4R
[40]
[41]
PDC
Phosducin
CFA7 Photoreceptors dysplasia (pd)
Type A-PRA
Miniature Schnauzer R82G [42]
RPGR
Retinitis Pigmentosa GTPase Regulator
CFA X X-Linked Progressive Retinal Atrophy 1 (XLPRA1) Samoyed
Siberian Husky
Del GAGAA [9]
X-Linked Progressive Retinal Atrophy 2 (XLPRA2) Mongrel Del GA [9]
CNGB3
Cyclic Nucleotide Gated channel β3
CFA29 Achromatopsia-3 Alaskan Malamute Deletion removing all exons (Del 140 kb) [43]
German Shorthaired Pointer D262N [43]
RPE65
Retinal Pigment Epithelium-specific protein 65 kDa
CFA6 CSNB
Congenital stationary night blindness
Briard DelAAGA [44]
NHEJ1
NonHomologous End-Joining factor1
CFA37 CEA
Collie Eye Anomaly
8 breeds (1) 7.8 kb deletion [31]
PRCD
Progressive Rod Cone Degeneration
CFA9 PRCD
Progressive Rod-Cone Degeneration
22 breeds (2) C2Y [7]
RPGRIP1
RPGR Interacting Protein 1
CFA15 CORD1
Cone Rod Dystrophy 1
Miniature Longhaired Dachshund 44 nucleotide insertion [45]
BEST1
Bestrophin 1
CFA18 CMR
Canine Multi-focal Retinopathy
5 breeds (3) R25X
G161D
[46]

(1) Australian Shepherd, Border Collie, Lancashire Heeler, Nova Scotia DTR, Rough Collie, Shetland Sheepdog, Smooth Collie, Whippet: longhaired.

(2) American Cocker Spaniel, American Eskimo Dog, Australian Cattle Dog, Australian Shepherd, Australian Stumpy Tail Cattle Dog, Chesapeake Bay Retriever, Chinese Crested, Cockapoos, English Cocker Spaniel, Entelbucher Mountain Dog, Finnish Lapphund, Golden Retriever, Kuvasz, Labradoodle, Labrador Retriever, Lapponian Herder, Nova Scotia Duck Tolling Retriever, Poodle Miniature and Toy, Portuguese Water Dog, Spanish Water Dog, Swedish Lapphund.

(3) English Mastiff, Bullmastiff, Dogue de Bordeaux, Great Pyrenees, Coton de Tulear