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

Vilboux et al. BMC Veterinary Research 2008 4:10   doi:10.1186/1746-6148-4-10

Open Data