canine genetically inherited eye disease mutations...canine genetically inherited eye disease...

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


Breed(s)

Tanaka et al. (2015) 26407004

Labrador Retriever

CNGB3 c.G784A SubstitutionACHM No Autosomal Recessive OMIA 001676-96153


Breed(s)

Sidjanin et al. (2002) 12140185

German Shorthaired Pointer

CNGB3 c.404k whole gene DeletionACHM No Autosomal Recessive4


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 of 23


Mutation type

Disease designation

AHT offers DNA test


Canine multi-focal retinopathy (n=3)

BEST1 c.C73T SubstitutionCMR1 No Autosomal Recessive OMIA 001444-96151


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


Breed(s)

Miyadera et al. (2012) 22065099

Coton De Tulear

BEST1 c.C1388del DeletionCMR3 No Autosomal Recessive OMIA 001554-96153


Breed(s)

Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Zangerl et al. (2010) 16938425

Finnish Lapphund Lapponion Herder



Mutation type

Disease designation

AHT offers DNA test


Collie eye anomaly (n=1)

NHEJ1 c.588+462_588+8260del7799bp* DeletionCEA No Autosomal Recessive1


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


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


Breed(s)

Donner et al. (2019) 30657768 Donner et al.(2019) 27525650 Forman et al. (2012) 22253609

Cavalier King Charles Spaniel King Charles Spaniel



Mutation type

Disease designation

AHT offers DNA test


Congenital stationary night blindness (n=2)

RPE65 c.487_490delAAGA DeletionCSNB Yes Autosomal Recessive OMIA 001222-96151


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


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


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


Breed(s)

Pugh et al. (2019) 30696701

Border Collie



Mutation type

Disease designation

AHT offers DNA test


Hereditary cataracts (n=2)

HSF4 g.85286582_3insC * InsertionHC Yes Autosomal Recessive OMIA 001758-96151


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


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


Breed(s)

TetasPont (2016) 26585178

Labrador Retriever Cross

Micropthalmia (n=1)

RBP4 c.282_284del DeletionMAC No Autosomal Recessive OMIA 002151-96151


Breed(s)

Kaukonen et al. (2018) 29847795

Soft-coated Wheaten Terrier



Mutation type

Disease designation

AHT offers DNA test


Neuronal ceroid lipofuscinosis (n=15)

PPT1 c.736_737insC InsertionCLN1 No Autosomal Recessive OMIA 001504-96151


Breed(s)

Sanders et al. (2010) 20494602

Miniature Daschund

PPT1 c.124+1G>A. SubstitutionCLN1 No Autosomal Recessive OMIA 001504-96152


Breed(s)

Kolicheski et al. (2017) 28008682

Cane Corso

TPP1 c.325delC DeletionCLN2 No Autosomal Recessive OMIA 001472-96153


Breed(s)

Awano et al. (2016) 16621647

Miniature Long-haired Dachshund

CLN5 c.619C>T SubstitutionCLN5 Yes Autosomal Recessive OMIA 001482-96154


Breed(s)

Kolicheski et al. (2016) 27203721 Melville (2005) 16033706

Australian Cattle Dog Border Collie



Mutation type

Disease designation

AHT offers DNA test


CLN5 c.934_935delAG, p.E312Vfs*6 DeletionCLN5 No Autosomal Recessive OMIA 001482-96155


Breed(s)

Gilliam et al. (2015) 25934231

Golden Retriever

CLN6 c.829T>C, p.W277R SubstitutionCLN6 No Autosomal Recessive OMIA 001443-96156


Breed(s)

Katz et al. (2011) 21234413

Australian Shepherd

MFSD8 c.843delT, p.F282Lfs13* DeletionCLN7 No Autosomal Recessive OMIA 001962-96157


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


Breed(s)

Katz et al. (2005) 15629147

English Setter

CLN8 c.585G>A, P.Trp195* SubstitutionCLN8 No Autosomal Recessive OMIA 001506-96159


Breed(s)

Guo et al. (2014) 24953404

Cross Breed



Mutation type

Disease designation

AHT offers DNA test


CTSD c.597G>A, p. M199I SubstitutionCLN10 No Autosomal Recessive OMIA 001505-961510


Breed(s)

Awano et al. (2006) 16386934

American Bulldog

ATP13A2 c.1620delG DeletionCLN12 Yes Autosomal Recessive OMIA 001552-961511


Breed(s)

Wohlke et al. (2011) 22022275

Tibetan Terrier

ATP13A2 c.1118C>T, p.Thr373Ile SubstitutionCLN12 No Autosomal Recessive OMIA 001552-961512


Breed(s)

Schmutz et al. (2019) 30956123

Australian Cattle Dog

ARSG c.296G>A, p.R99H SubstitutionCLN4 No Autosomal Recessive OMIA 001503-961513


Breed(s)

Abitol et al. (2010) 20679209

American Staffordshire Bull Terrier

CLN8 c.349insT, p.Glu117* InsertionCLN8 No Autosomal Recessive OMIA 001506-961514


Breed(s)

Lingas et al. (2017) 29446145

Saluki



Mutation type

Disease designation

AHT offers DNA test


CLN8 g.30852988_30902901del DeletionCLN8 No Autosomal Recessive15


Breed(s)

Hirz et al. (2017) 28024876

Alpenlandische Dachsbracke

Oculocutaneous albinism (n=4)

SLC45A2 c.1287delC DeletionOCA No Autosomal Recessive OMIA 001821-96151


Breed(s)

Caduff et al (2017) 28737247

Bull Mastiff

SLC45A2 c.1487G>A SubstitutionOCA No Autosomal Recessive OMIA 001821-96152


Breed(s)

Wijesena et al. (2015) 25790827

Lhasa Apso Pekingese Pomeranian

OCA2 c.377+2T>G SubstitutionOCA No Autosomal Recessive OMIA 002130-96153


Breed(s)

Caduff et al (2017) 28973042

German Spitz (Giant)



Mutation type

Disease designation

AHT offers DNA test


SLC45A2 g.274141-31223del DeletionOCA No Autosomal Recessive4


Breed(s)

Winkler et al (2014) 24647637

Doberman

Oculoskeletal Dysplasia (n=3)

COL9A3 g.49699847insG InsertionOSD1 No Autosomal Recessive OMIA 001522-96151


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


Breed(s)

Stavinohova et al. (2019) 31415586

Northern Inuit

COL9A2 1267BP DeletionOSD2 No Autosomal Recessive3


Breed(s)

Goldstein et al. (2010) 20686772 Mellersh (2014) 26401320 Miyadera et al. (2012) 22065099

Samoyed



Mutation type

Disease designation

AHT offers DNA test


Primary lens luxation (n=1)

ADAMTS17 c.1473+1G>A SubstitutionPLL Yes Autosomal Recessive OMIA 000588-96151


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


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


Breed(s)

Ahonen et al (2014) 25372548

Norwegian Elkhound



Mutation type

Disease designation

AHT offers DNA test


ADAMTS17 c.193_212_del , p.Pro65* DeletionPOAG Yes Autosomal Recessive OMIA 001976-96153


Breed(s)

Oliver et al. (2015) 27192202

Basset Hound

ADAMTS17 c.1552G>A. p.G519S SubstitutionPOAG No Autosomal Recessive OMIA 001976-96154


Breed(s)

Oliver et al. (2015) 27192202

Basset Fauve De Bretagne

NEB g.5588214 A>G SubstitutionPOAG No Autosomal Recessive OMIA 001871-96155


Breed(s)

Ahram et al. (2015) 25938837

Basset Hound

SRBD1 C/T (risk allele T) SubstitutionPOAG No Autosomal Recessive6


Breed(s)

Kanemaki et al. (2013) 24040232

Japanese Shiba Inu

SRBD1 C/G (risk allele G) SubstitutionPOAG No Autosomal Recessive7


Breed(s)

Kanemaki et al. (2013) 24040232

Japanese Shiba Inu



Mutation type

Disease designation

AHT offers DNA test


SRBD1 A/G (risk allele G) SubstitutionPOAG No Autosomal Recessive8


Breed(s)

Kanemaki et al. (2013) 24040232

Japanese Shiba Inu

SRBD1 rs9172407 SubstitutionPOAG No Autosomal Recessive9


Breed(s)

Kanemaki et al. (2013) 24040232

Shih Tzu

ADAMTS17 4.96MB InversionPOAG Yes Autosomal Recessive10


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


Breed(s)

Oliver et al. (2018) 29287154

Shar Pei



Mutation type

Disease designation

AHT offers DNA test


Progressive retinal atrophy (n=34)

BBS4 c.58A>T exon 2 SubstitutionPRA_BBS4 No Autosomal Recessive OMIA 002045-96151


Breed(s)

Chew et al. (2017) 28533336

Hungarian Puli

C17H2ORF71 c.3149_3150insC InsertionPRA_RCD4 Yes Autosomal Recessive OMIA 001575-96152


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


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


Breed(s)

Wild et al. (2015)

Shetland Sheepdogs



Mutation type

Disease designation

AHT offers DNA test


CNGB1 c.2685delA2687_2688insTAGCTA* Insertion/DeletionPRA_PAP1 No Autosomal Recessive OMIA 000830-96155


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


Breed(s)

Downs et al. (2014) 24705771

Tibetan Spaniel Tibetan Terrier

IQCB1 c.952-953insC InsertionPRA_CRD2 No Autosomal Recessive OMIA 001675-96157


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


Breed(s)

Pandya et al. (2016)

Spitz



Mutation type

Disease designation

AHT offers DNA test


PDC (A/G) SubstitutionPRA No Autosomal Recessive9


Breed(s)


Spitz

PDC (C/T) SubstitutionPRA No Autosomal Recessive10


Breed(s)


Spitz

PDC (G/A) SubstitutionPRA No Autosomal Recessive11


Breed(s)


Spitz

PDC (G/T) SubstitutionPRA No Autosomal Recessive12


Breed(s)


Spitz

PDE6B c.2420G>A, p.W807X SubstitutionPRA_RCD1 Yes Autosomal Recessive OMIA 000882-961513


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



Mutation type

Disease designation

AHT offers DNA test


PDE6B c.2448_2449insTGAAGTCC InsertionPRA_RCD1 No Autosomal Recessive OMIA 001669-961514


Breed(s)

Dekomien et al (2000) 11124530

Sloughie (Arabian Greyhound)

PDE6B assoc with PDC SubstitutionPRA_RCD1 No Autosomal Recessive15


Breed(s)


Spitz

PDE6B c.2404_2406delAAC DeletionPRA_RCD1 No Autosomal Recessive OMIA 001674-961516


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


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)



Mutation type

Disease designation

AHT offers DNA test


PRCD c.G115A SubstitutionPRA_PRCD No Autosomal Recessive OMIA 001298-961518


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



Mutation type

Disease designation

AHT offers DNA test


RD3 p.Pro139Alafs* InsertionRCD2 No Autosomal Recessive OMIA 001260-961519


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


Breed(s)

Zhang et al. (2002) 11978759

Samoyed Siberian Husky

RPGR c.1028-1032delGAGAA? DeletionXL_PRA1 No X Linked Recessive OMIA 000831-961521


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


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



Mutation type

Disease designation

AHT offers DNA test


RPGRIP1 g.8228_8229insA29GGAAGCAACAGGATG

InsertionPRA_CRD4 Yes Autosomal Recessive OMIA 001432-961523


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


Breed(s)

Goldstein et al. (2013) 24019744

Basenji

SLC4A3 c.2601_2602insC InsertionGR-PRA1 Yes Autosomal Recessive OMIA 001572-961525


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



Mutation type

Disease designation

AHT offers DNA test


TTC8 c.669delA DeletionGR-PRA2 Yes Autosomal Recessive OMIA 001984-961526


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


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


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


Breed(s)

Hitti et al. (TBP)

Lhasa Apso



Mutation type

Disease designation

AHT offers DNA test


PPT1 2866454_2877574 DuplicationPRA_PPT1 No Autosomal Recessive30


Breed(s)

Murgiano et al (2019) 30541930

Miniature Schnauzer

PPT1 2874661_2875048 ConversionPRA_PPT1 No Autosomal Recessive31


Breed(s)


Miniature Schnauzer

PPT1 2877563_2877607 Inversion OR InsertionPRA_PPT1 No Autosomal Recessive32


Breed(s)


Miniature Schnauzer

ADAM9 23221bp del DeletionPRA_CRD3 No Autosomal Recessive33


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


Breed(s)

Ahonen et al (2014) 25517981 Everson et al. (2017) 28813472

Swedish Vallhund



Mutation type

Disease designation

AHT offers DNA test


Retinal degeneration (n=1)

MAP9 21961bp Pseudogene Inversion Early Onset Retinal Degeneration Modifier ( of CRD4/CORD1)

No Autosomal Recessive1


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


Breed(s)

Mäkeläinen et al. (2019) 30889179

Labrador Retriever Cross

XL Progressive retinal atrophy (n=1)

RPGR 5kb DeletionXLPRA No Autosomal Recessive1


Breed(s)

Kropatsch et al. (2016) 27398221

Weimaraner


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