canine genetically inherited eye disease mutations...canine genetically inherited eye disease...
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Canine genetically inherited eye disease mutations
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
Achromatopsia (n=4)
CNGA3 c.C1270T SubstitutionACHM No Autosomal Recessive OMIA 001481-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Tanaka et al. (2015) 26407004
German Shepherd Dog
CNGA3 c.1931_1933delTGG DeletionACHM No Autosomal Recessive OMIA 001481-96152
Publication(s) - Citation and Pubmed ID
Breed(s)
Tanaka et al. (2015) 26407004
Labrador Retriever
CNGB3 c.G784A SubstitutionACHM No Autosomal Recessive OMIA 001676-96153
Publication(s) - Citation and Pubmed ID
Breed(s)
Sidjanin et al. (2002) 12140185
German Shorthaired Pointer
CNGB3 c.404k whole gene DeletionACHM No Autosomal Recessive4
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Miyadera et al. (2012) 22065099
Seddon et al. (2006) 16879359 Sidjanin et al. (2002) 12140185 Yeh et al. (2013) 23601474
Alaskan Malamute Miniature Australian Shepherd Siberian Husky
12 November 2019 Page 1 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
Canine multi-focal retinopathy (n=3)
BEST1 c.C73T SubstitutionCMR1 No Autosomal Recessive OMIA 001444-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Gornik et al. (2013) 23998685
Guziewicz et al. (2007) 17460247 Hoffman et al. (2012) 22432598 Zangerl et al. (2010) 16938425
Bull Mastiff Mastiff Pyrenean Mountain dog
Cane Corso Dogue de Bordeaux Anatolian Shepherd Dog
Boerboel American Bulldog American Pit Bull Terrier
Miniature American Shepherd Brazilian Terrier Bulldog
French Bull Dog Perro de Presa Canario
BEST1 c.G482A SubstitutionCMR2 No Autosomal Recessive OMIA 001553-96152
Publication(s) - Citation and Pubmed ID
Breed(s)
Miyadera et al. (2012) 22065099
Coton De Tulear
BEST1 c.C1388del DeletionCMR3 No Autosomal Recessive OMIA 001554-96153
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Zangerl et al. (2010) 16938425
Finnish Lapphund Lapponion Herder
12 November 2019 Page 2 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
Collie eye anomaly (n=1)
NHEJ1 c.588+462_588+8260del7799bp* DeletionCEA No Autosomal Recessive1
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Kucharczyk et a;. (2019)
Miyadera et al. (2012) 22065099 Mizukami et al (2012) 22051190 Optigen (2016)
Parker et al (2007) 17916641
Australian Shepherd Border Collie Rough Collie
Smooth Collie Lancashire Heeler Nova Scotia Duck Tolling Retrievers
Shetland Sheepdogs Whippet Hokkaido Ken
Silken Windhound Miniature Australian Shepherd Miniature American Shepherd
Bearded collie Jack Russell Terrier Australian Kelpie
Lapponion Herder Parson Russell Terrier Whippet
Boykin Spaniel Koolie
Congenital eye malformation (n=1)
SIX6 c.487C>T SubstitutionCEM No Autosomal Dominant1
Publication(s) - Citation and Pubmed ID
Breed(s)
Hug et al. (2019) 31207931
Golden Retriever
Congenital Keratoconjunctivitis Sicca, Ichthyosiform Dermatosis (n=1)
FAM83H c.1015delC DeletionCKCSID Yes Autosomal Recessive OMIA 001683-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Forman et al. (2012) 22253609
Cavalier King Charles Spaniel King Charles Spaniel
12 November 2019 Page 3 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
Congenital stationary night blindness (n=2)
RPE65 c.487_490delAAGA DeletionCSNB Yes Autosomal Recessive OMIA 001222-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Aguirre et al. (1998) 9808841 Bechynova et al. (2008) Mowat et al. (2017) 28662231
Veske et al (1999) 10191083
Briard
LRIT3 c.762_763delG DeletionCSNB No Autosomal Recessive2
Publication(s) - Citation and Pubmed ID
Breed(s)
Das et al. (2019) 31578364
Beagle
Early retinal degeneration (n=1)
STK38L SINE ins20447905_20447906_315bp
Sine InsertionERD No Autosomal Recessive OMIA 001297-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Goldstein et al. (2010) 20887780
Norwegian Elkhound
Goniodysgenesis, Closed Angle Glaucoma (n=1)
OLFML3 c.590G>A SubstitutionGON, POAG Yes Autosomal Recessive OMIA 001223-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Pugh et al. (2019) 30696701
Border Collie
12 November 2019 Page 4 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
Hereditary cataracts (n=2)
HSF4 g.85286582_3insC * InsertionHC Yes Autosomal Recessive OMIA 001758-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Mellersh et al. (2006) 16939467 Mellersh et al. (2007) 17611257 Mellersh et al. (2009) 19883468
Boston Terrier French Bull Dog Staffordshire Bull Terrier
HSF4 g.85286582delC * DeletionHC Yes Autosomal Recessive OMIA 001758-96152
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Mellersh (2014) 26401320
Mellersh et al. (2006) 16939467 Mellersh et al. (2009) 19883468
Australian Shepherd Bull Terrier Miniature Australian Shepherd
Miniature Pinscher
Macular corneal dystrophy (n=1)
CHST6 c814C>A SubstitutionMCD Yes Autosomal Recessive OMIA 002071-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
TetasPont (2016) 26585178
Labrador Retriever Cross
Micropthalmia (n=1)
RBP4 c.282_284del DeletionMAC No Autosomal Recessive OMIA 002151-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Kaukonen et al. (2018) 29847795
Soft-coated Wheaten Terrier
12 November 2019 Page 5 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
Neuronal ceroid lipofuscinosis (n=15)
PPT1 c.736_737insC InsertionCLN1 No Autosomal Recessive OMIA 001504-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Sanders et al. (2010) 20494602
Miniature Daschund
PPT1 c.124+1G>A. SubstitutionCLN1 No Autosomal Recessive OMIA 001504-96152
Publication(s) - Citation and Pubmed ID
Breed(s)
Kolicheski et al. (2017) 28008682
Cane Corso
TPP1 c.325delC DeletionCLN2 No Autosomal Recessive OMIA 001472-96153
Publication(s) - Citation and Pubmed ID
Breed(s)
Awano et al. (2016) 16621647
Miniature Long-haired Dachshund
CLN5 c.619C>T SubstitutionCLN5 Yes Autosomal Recessive OMIA 001482-96154
Publication(s) - Citation and Pubmed ID
Breed(s)
Kolicheski et al. (2016) 27203721 Melville (2005) 16033706
Australian Cattle Dog Border Collie
12 November 2019 Page 6 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
CLN5 c.934_935delAG, p.E312Vfs*6 DeletionCLN5 No Autosomal Recessive OMIA 001482-96155
Publication(s) - Citation and Pubmed ID
Breed(s)
Gilliam et al. (2015) 25934231
Golden Retriever
CLN6 c.829T>C, p.W277R SubstitutionCLN6 No Autosomal Recessive OMIA 001443-96156
Publication(s) - Citation and Pubmed ID
Breed(s)
Katz et al. (2011) 21234413
Australian Shepherd
MFSD8 c.843delT, p.F282Lfs13* DeletionCLN7 No Autosomal Recessive OMIA 001962-96157
Publication(s) - Citation and Pubmed ID
Breed(s)
Ashwani et al. (2016) 27211611 Guo et al. (2014) 25551667
Chinese Crested Chihuahua
CLN8 c.491T>C, p.L164P SubstitutionCLN8 No Autosomal Recessive OMIA 001506-96158
Publication(s) - Citation and Pubmed ID
Breed(s)
Katz et al. (2005) 15629147
English Setter
CLN8 c.585G>A, P.Trp195* SubstitutionCLN8 No Autosomal Recessive OMIA 001506-96159
Publication(s) - Citation and Pubmed ID
Breed(s)
Guo et al. (2014) 24953404
Cross Breed
12 November 2019 Page 7 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
CTSD c.597G>A, p. M199I SubstitutionCLN10 No Autosomal Recessive OMIA 001505-961510
Publication(s) - Citation and Pubmed ID
Breed(s)
Awano et al. (2006) 16386934
American Bulldog
ATP13A2 c.1620delG DeletionCLN12 Yes Autosomal Recessive OMIA 001552-961511
Publication(s) - Citation and Pubmed ID
Breed(s)
Wohlke et al. (2011) 22022275
Tibetan Terrier
ATP13A2 c.1118C>T, p.Thr373Ile SubstitutionCLN12 No Autosomal Recessive OMIA 001552-961512
Publication(s) - Citation and Pubmed ID
Breed(s)
Schmutz et al. (2019) 30956123
Australian Cattle Dog
ARSG c.296G>A, p.R99H SubstitutionCLN4 No Autosomal Recessive OMIA 001503-961513
Publication(s) - Citation and Pubmed ID
Breed(s)
Abitol et al. (2010) 20679209
American Staffordshire Bull Terrier
CLN8 c.349insT, p.Glu117* InsertionCLN8 No Autosomal Recessive OMIA 001506-961514
Publication(s) - Citation and Pubmed ID
Breed(s)
Lingas et al. (2017) 29446145
Saluki
12 November 2019 Page 8 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
CLN8 g.30852988_30902901del DeletionCLN8 No Autosomal Recessive15
Publication(s) - Citation and Pubmed ID
Breed(s)
Hirz et al. (2017) 28024876
Alpenlandische Dachsbracke
Oculocutaneous albinism (n=4)
SLC45A2 c.1287delC DeletionOCA No Autosomal Recessive OMIA 001821-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Caduff et al (2017) 28737247
Bull Mastiff
SLC45A2 c.1487G>A SubstitutionOCA No Autosomal Recessive OMIA 001821-96152
Publication(s) - Citation and Pubmed ID
Breed(s)
Wijesena et al. (2015) 25790827
Lhasa Apso Pekingese Pomeranian
OCA2 c.377+2T>G SubstitutionOCA No Autosomal Recessive OMIA 002130-96153
Publication(s) - Citation and Pubmed ID
Breed(s)
Caduff et al (2017) 28973042
German Spitz (Giant)
12 November 2019 Page 9 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
SLC45A2 g.274141-31223del DeletionOCA No Autosomal Recessive4
Publication(s) - Citation and Pubmed ID
Breed(s)
Winkler et al (2014) 24647637
Doberman
Oculoskeletal Dysplasia (n=3)
COL9A3 g.49699847insG InsertionOSD1 No Autosomal Recessive OMIA 001522-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Goldstein et al. (2010) 20686772 Mellersh (2014) 26401320 Miyadera et al. (2012) 22065099
Labrador Retriever
COL9A3 c.700C>T, pArg234Ter SubstitutionOSD3 Yes Autosomal Recessive OMIA 001506-96152
Publication(s) - Citation and Pubmed ID
Breed(s)
Stavinohova et al. (2019) 31415586
Northern Inuit
COL9A2 1267BP DeletionOSD2 No Autosomal Recessive3
Publication(s) - Citation and Pubmed ID
Breed(s)
Goldstein et al. (2010) 20686772 Mellersh (2014) 26401320 Miyadera et al. (2012) 22065099
Samoyed
12 November 2019 Page 10 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
Primary lens luxation (n=1)
ADAMTS17 c.1473+1G>A SubstitutionPLL Yes Autosomal Recessive OMIA 000588-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Farias et al. (2010) 20375329
Fennema (2015) Gharahkhani et al. (2012) Gharahkhani et al. (2015) 26720482
Gould et al. (2011) 22050825
Miniature Bull Terrier Jack Russell Terrier Lancashire Heeler
Hairless terrier (American) Australian Cattle Dog Chinese Crested
Toy Fox Terrier Wire-haired Fox Terrier Jagdterrier
Parson Russell Terrier Patterdale Terrier Sealyham Terrier
Tenterfield Terrier Tibetan Terrier Volpino Italiano
Welsh Terrier Yorkshire Terrier Bull Terrier
Danish Swedish Farm Dog Hungarian Puli Lakeland Terrier
Norwich terrier Rat Terrier
Primary open-angle glaucoma (n=10)
ADAMTS10 p.G661R SubstitutionPOAG No Autosomal Recessive OMIA 001870-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Ahonen et al (2014) 25517981 Donner et al.(2019) 27525650 Kutchey et al. (2011) 21379321
Kutchey et al. (2013) 23422823
Beagle East Siberian Laika
ADAMTS10 c.1441G>A SubstitutionPOAG No Autosomal Recessive OMIA 001870-96152
Publication(s) - Citation and Pubmed ID
Breed(s)
Ahonen et al (2014) 25372548
Norwegian Elkhound
12 November 2019 Page 11 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
ADAMTS17 c.193_212_del , p.Pro65* DeletionPOAG Yes Autosomal Recessive OMIA 001976-96153
Publication(s) - Citation and Pubmed ID
Breed(s)
Oliver et al. (2015) 27192202
Basset Hound
ADAMTS17 c.1552G>A. p.G519S SubstitutionPOAG No Autosomal Recessive OMIA 001976-96154
Publication(s) - Citation and Pubmed ID
Breed(s)
Oliver et al. (2015) 27192202
Basset Fauve De Bretagne
NEB g.5588214 A>G SubstitutionPOAG No Autosomal Recessive OMIA 001871-96155
Publication(s) - Citation and Pubmed ID
Breed(s)
Ahram et al. (2015) 25938837
Basset Hound
SRBD1 C/T (risk allele T) SubstitutionPOAG No Autosomal Recessive6
Publication(s) - Citation and Pubmed ID
Breed(s)
Kanemaki et al. (2013) 24040232
Japanese Shiba Inu
SRBD1 C/G (risk allele G) SubstitutionPOAG No Autosomal Recessive7
Publication(s) - Citation and Pubmed ID
Breed(s)
Kanemaki et al. (2013) 24040232
Japanese Shiba Inu
12 November 2019 Page 12 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
SRBD1 A/G (risk allele G) SubstitutionPOAG No Autosomal Recessive8
Publication(s) - Citation and Pubmed ID
Breed(s)
Kanemaki et al. (2013) 24040232
Japanese Shiba Inu
SRBD1 rs9172407 SubstitutionPOAG No Autosomal Recessive9
Publication(s) - Citation and Pubmed ID
Breed(s)
Kanemaki et al. (2013) 24040232
Shih Tzu
ADAMTS17 4.96MB InversionPOAG Yes Autosomal Recessive10
Publication(s) - Citation and Pubmed ID
Breed(s)
Forman et al. (2015) c
Petit Basset Griffon Vendeen
Primary open-angle glaucoma & Primary lens luxation (n=1)
ADAMTS17 c.3069_3074del6bp DeletionPOAG/PLL No Autosomal Recessive OMIA 001976-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Oliver et al. (2018) 29287154
Shar Pei
12 November 2019 Page 13 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
Progressive retinal atrophy (n=34)
BBS4 c.58A>T exon 2 SubstitutionPRA_BBS4 No Autosomal Recessive OMIA 002045-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Chew et al. (2017) 28533336
Hungarian Puli
C17H2ORF71 c.3149_3150insC InsertionPRA_RCD4 Yes Autosomal Recessive OMIA 001575-96152
Publication(s) - Citation and Pubmed ID
Breed(s)
Downs et al. (2013) 22686255 Downs et al. (2014) 24255994 Karlskov-Mortenson et al (2018 29624701
Svensson et al. (2016) 26009980
Gordon Setter Irish Setter Chinese Crested
Standard Poodle English Setter Tibetan Terrier
Polish Lowland Sheepdog (polski owczarek Old Danish Pointer Polish Tatra Sheepdog
CCDC66 c.521_522insA InsertionGpra No Autosomal Recessive OMIA 001521-96153
Publication(s) - Citation and Pubmed ID
Breed(s)
Dekomien (2010) 19777273 Gerding et al. (2011) 21680557 Lippmann et al. (2007) 17327822
Schulte-Middelmann (2009)
Schapendoes (Dutch)
CNGA1 c1752_1755delAACT exon 9 DeletionPRA_CNGA1 No Autosomal Recessive OMIA 001977-96154
Publication(s) - Citation and Pubmed ID
Breed(s)
Wild et al. (2015)
Shetland Sheepdogs
12 November 2019 Page 14 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
CNGB1 c.2685delA2687_2688insTAGCTA* Insertion/DeletionPRA_PAP1 No Autosomal Recessive OMIA 000830-96155
Publication(s) - Citation and Pubmed ID
Breed(s)
Ahonen et al (2013) 24015210 Donner et al. (2019) 30657768 Donner et al.(2019) 27525650
Winkler et al (2013) 23977260
Papillon Phalene Griffon bruxellois
FAM161A c.1758-15_1758-16ins238 InsertionPRA3 Yes Autosomal Recessive OMIA 001918-96156
Publication(s) - Citation and Pubmed ID
Breed(s)
Downs et al. (2014) 24705771
Tibetan Spaniel Tibetan Terrier
IQCB1 c.952-953insC InsertionPRA_CRD2 No Autosomal Recessive OMIA 001675-96157
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Goldstein et al. (2013) 24045995
American Staffordshire Bull Terrier American Pit Bull Terrier
PDC (T/A) SubstitutionPRA No Autosomal Recessive8
Publication(s) - Citation and Pubmed ID
Breed(s)
Pandya et al. (2016)
Spitz
12 November 2019 Page 15 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
PDC (A/G) SubstitutionPRA No Autosomal Recessive9
Publication(s) - Citation and Pubmed ID
Breed(s)
Pandya et al. (2016)
Spitz
PDC (C/T) SubstitutionPRA No Autosomal Recessive10
Publication(s) - Citation and Pubmed ID
Breed(s)
Pandya et al. (2016)
Spitz
PDC (G/A) SubstitutionPRA No Autosomal Recessive11
Publication(s) - Citation and Pubmed ID
Breed(s)
Pandya et al. (2016)
Spitz
PDC (G/T) SubstitutionPRA No Autosomal Recessive12
Publication(s) - Citation and Pubmed ID
Breed(s)
Pandya et al. (2016)
Spitz
PDE6B c.2420G>A, p.W807X SubstitutionPRA_RCD1 Yes Autosomal Recessive OMIA 000882-961513
Publication(s) - Citation and Pubmed ID
Breed(s)
Clements et al. (1993) 8261797 Djajadiningrat‐Laanen et al. (20 12653325 Suber et ak. (1993) 8387203
Irish Red and White Setter Irish Setter
12 November 2019 Page 16 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
PDE6B c.2448_2449insTGAAGTCC InsertionPRA_RCD1 No Autosomal Recessive OMIA 001669-961514
Publication(s) - Citation and Pubmed ID
Breed(s)
Dekomien et al (2000) 11124530
Sloughie (Arabian Greyhound)
PDE6B assoc with PDC SubstitutionPRA_RCD1 No Autosomal Recessive15
Publication(s) - Citation and Pubmed ID
Breed(s)
Pandya et al. (2016)
Spitz
PDE6B c.2404_2406delAAC DeletionPRA_RCD1 No Autosomal Recessive OMIA 001674-961516
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Goldstein et al. (2013) 24045995
American Bulldog American Staffordshire Bull Terrier
PDE6A c.1940delA DeletionPRA_RCD3 No Autosomal Recessive OMIA 001314-961517
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Downs et al. (2014) 24255994
Petersen–Jones et al. (1999) 22550515
Chinese Crested Pomeranian Welsh Corgi (Cardigan)
Welsh Corgi (Pembroke)
12 November 2019 Page 17 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
PRCD c.G115A SubstitutionPRA_PRCD No Autosomal Recessive OMIA 001298-961518
Publication(s) - Citation and Pubmed ID
Breed(s)
Acland et al. (1998) 9501213 Aguirre and Acland (1998) 3164273 Dostal et al. (2011)
Downs et al. (2014) 24255994 Goldstein et al. (2006) Miyadera et al. (2012) 22065099
Moody et al. (2005) 16334947 Palanova et al. (2016) 30050836 Ray et al. (1996) 8603863
Zangerl et al. (2006) 16938425
Chinese Crested Miniature Poodle Toy Poodle
Portuguese Water Dog Chesapeake Bay Retriever Labrador Retriever
Nova Scotia Duck Tolling Retrievers Schipperke American Cocker Spaniel
Cocker Spaniel Australian Cattle Dog Australian Shepherd
Miniature Australian Shepherd Cockapoo Entlebucher Sennenhund
Finnish Lapphund Goldendoodle Kuvasz
Labradoodle Lapponion Herder Markiesje
Norwegian Elkhound Standard Poodle Golden Retriever
Spanish Water Dog Swedish Lapphund Yorkshire Terrier
Australian Silky Terrier Hairless terrier (American) Barbet
Chihuahua Coton De Tulear Hungarian Puli
Jack Russell Terrier Japanese Chin Lagotto Romagnolo
Lancashire Heeler Manchester Terrier Pomeranian
Portuguese Podengo Pequeno (small) Rat Terrier Russian Black Terrier
Giant Schnauzer Field Spaniel Tibetan Terrier
Mexican Hairless Dog (Xoloitzcuintli) American Eskimo Dog Australian Stumpy Tailed Cattle Dog
Karelian Bear Dog Bolognese Bolonka Zvetna
Mi-Ki Norrbottenspets Plott (Hound)
Russian-European Laika Serbian Hound Swedish Elkhound
12 November 2019 Page 18 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
RD3 p.Pro139Alafs* InsertionRCD2 No Autosomal Recessive OMIA 001260-961519
Publication(s) - Citation and Pubmed ID
Breed(s)
Kukekova et al. (2006) 16505060 Kukekova et al. (2009) 19130129 Miyadera et al. (2012) 22065099
Molday et al. (2014) 24904271 Perrault et al. (2014) 23308101
Rough Collie Smooth Collie
RPGR c.1084-1085delGA* DeletionXL_PRA2 No X Linked Recessive OMIA 001518-961520
Publication(s) - Citation and Pubmed ID
Breed(s)
Zhang et al. (2002) 11978759
Samoyed Siberian Husky
RPGR c.1028-1032delGAGAA? DeletionXL_PRA1 No X Linked Recessive OMIA 000831-961521
Publication(s) - Citation and Pubmed ID
Breed(s)
Andre et al. (2008) Dave and Dave (2014) Guyon et al. (2007) 17653054
Vilboux et al. (2008) 18315866 Zangerl et al. (2007) 17646274 Zeiss et al. (1999) 10586956
Zeiss et al. (2000) 10699176 Zhang et al. (2002) 11978759
Cross Breed
RHO c. C11G SubstitutionDPRA No Autosomal Dominant OMIA 001346-961522
Publication(s) - Citation and Pubmed ID
Breed(s)
Kijas et al. (2002) 11972042 Kijas et al. (2003) 12692159 Miyadera et al. (2012) 22065099
Palanova et al. (2016) 30050836
Bull Mastiff Mastiff
12 November 2019 Page 19 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
RPGRIP1 g.8228_8229insA29GGAAGCAACAGGATG
InsertionPRA_CRD4 Yes Autosomal Recessive OMIA 001432-961523
Publication(s) - Citation and Pubmed ID
Breed(s)
Busse et al. (2011) 21521437 Das et al. (2017) 28993665 Donner et al. (2019) 30657768
Donner et al.(2019) 27525650 Downs et al. (2014) 24255994 Kuznetsova et al. (2012) 22183349
Kuznetsova et al. (2012) 22807295 Mellersh et al. (2006) 16806805 Miyadera et al. (2009) 19936303
Narfstrom et al. (2012) 22550515
Miniature Long-haired Dachshund Beagle French Bull Dog
Labrador Retriever English Springer Spaniel Cocker Spaniel
Chihuahua German Spitz (Klein) Field Spaniel
Curly Coated Retriever Long-Haired Dachshund (Standard) Minature Smooth Haired Dachshund
Miniature Wire Haired Dachshund Smooth Haired Dachshund (Standard)
SAG c1216T>C SubstitutionPRA_BAS No Autosomal Recessive OMIA 001876-961524
Publication(s) - Citation and Pubmed ID
Breed(s)
Goldstein et al. (2013) 24019744
Basenji
SLC4A3 c.2601_2602insC InsertionGR-PRA1 Yes Autosomal Recessive OMIA 001572-961525
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Downs et al. (2011) 21738669
Downs et al. (2014) 24255994 Miyadera (2014) 26120276
Golden Retriever Lhasa Apso Miniature Schnauzer
Labrador Retriever Cross Goldendoodle
12 November 2019 Page 20 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
TTC8 c.669delA DeletionGR-PRA2 Yes Autosomal Recessive OMIA 001984-961526
Publication(s) - Citation and Pubmed ID
Breed(s)
Downs et al. (2014) 24255994 Downs et al. (2014) 24255994 Miyadera (2014) 26120276
Labrador Retriever Cross Golden Retriever Goldendoodle
NPHP4 180bp del DeletionPRA_CRD Yes Autosomal Recessive OMIA 001455-961527
Publication(s) - Citation and Pubmed ID
Breed(s)
Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Palanova et al. (2013) 23998563
Ropstad et al. (2007) 17324160 Wild et al. (20009) 19392817 Wilk et al. (2008) 26202106
Miniature Wire Haired Dachshund Wire-haired Dachshund
NECAP1 c.544G>A SubstitutionPRA Yes Autosomal Recessive OMIA-002198-961528
Publication(s) - Citation and Pubmed ID
Breed(s)
Hitti et al. (2019) 31117272
Giant Schnauzer German Spitz (Klein) German Spitz (Mittel)
German Spitz (Giant) Pomeranian Miniature Long-haired Dachshund
IMPG2 15bp ins. InsertionPRA4 Yes Autosomal Recessive29
Publication(s) - Citation and Pubmed ID
Breed(s)
Hitti et al. (TBP)
Lhasa Apso
12 November 2019 Page 21 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
PPT1 2866454_2877574 DuplicationPRA_PPT1 No Autosomal Recessive30
Publication(s) - Citation and Pubmed ID
Breed(s)
Murgiano et al (2019) 30541930
Miniature Schnauzer
PPT1 2874661_2875048 ConversionPRA_PPT1 No Autosomal Recessive31
Publication(s) - Citation and Pubmed ID
Breed(s)
Murgiano et al (2019) 30541930
Miniature Schnauzer
PPT1 2877563_2877607 Inversion OR InsertionPRA_PPT1 No Autosomal Recessive32
Publication(s) - Citation and Pubmed ID
Breed(s)
Murgiano et al (2019) 30541930
Miniature Schnauzer
ADAM9 23221bp del DeletionPRA_CRD3 No Autosomal Recessive33
Publication(s) - Citation and Pubmed ID
Breed(s)
Goldstein et al. (2010) 20806078 Kropatsch et al. (2010) 20691256
Glen of Imaal Terrier Labrador Retriever Cross Soft-coated Wheaten Terrier
MERTK 6-8k InsertionPRA_MERTK Yes Autosomal Recessive34
Publication(s) - Citation and Pubmed ID
Breed(s)
Ahonen et al (2014) 25517981 Everson et al. (2017) 28813472
Swedish Vallhund
12 November 2019 Page 22 of 23
Gene Mutation annotation
Mutation type
Disease designation
AHT offers DNA test
Inheritance OMIA reference
Retinal degeneration (n=1)
MAP9 21961bp Pseudogene Inversion Early Onset Retinal Degeneration Modifier ( of CRD4/CORD1)
No Autosomal Recessive1
Publication(s) - Citation and Pubmed ID
Breed(s)
Forman et al. (2016) 27017229
Miniature Long-haired Dachshund
Stargardt macular degeneration (n=1)
ABCA4 g.55146549insC, c.4176insC, p.F1393Lfs*1395
InsertionSTGD No Autosomal Recessive OMIA 002179-96151
Publication(s) - Citation and Pubmed ID
Breed(s)
Mäkeläinen et al. (2019) 30889179
Labrador Retriever Cross
XL Progressive retinal atrophy (n=1)
RPGR 5kb DeletionXLPRA No Autosomal Recessive1
Publication(s) - Citation and Pubmed ID
Breed(s)
Kropatsch et al. (2016) 27398221
Weimaraner
12 November 2019 Page 23 of 23
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