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Progressive Retinal Atrophy Autosomal Dominant (ADPRA)
Breed: Mastiff
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Progressive Retinal Atrophy Autosomal Dominant (ADPRA)
OMIA
1346
Gene Name
RHO
Mutation
c.11C>G
Mutation 2
p.Thr4Arg
Test Type
Genetic Disease/Disorder
Details
As detailed by Kijas et al. (2002), vision is normal for the first few months, but by 12-18 months, vision loss is spreading slowly with particular problems for the dog moving between different light levels. Homozygotes (two copies of the abnormal gene) have more severe clinical signs than heterozygotes (one copy of the abnormal gene).
Details 2
From Kijas et al. (2002), rod vision is normal for at least the first few months. But by 12-18 months, degeneration is evident, spreading slowly from a disease focus in one retinal region. In addition, there is an abnormally slow recovery of rod photoreceptor function after exposure to light. Homozygotes have more severe clinical signs than heterozygotes.
Published
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered 94:27-30, 2003. Pubmed reference: 12692159.
Published 2
Iwabe, S., Ying, G.S., Aguirre, G.D., Beltran, W.A. : Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog. Exp Eye Res 146:341-353, 2016. Pubmed reference: 27085210. DOI: 10.1016/j.exer.2016.04.006.
Body/System/Process
Eye
OMIA Url
Inheritance
AD
Breed Specific Info
Researched Breeds
English Mastiff
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD
FCI Number
264
GTP Breed
Mastiff (Old English)
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD
This test is outsourced to:
Orivet
FCI Number
264
GTP Breed
Mastiff
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Mutation Comment
g.5637394G>C
Nature of test
mutation test
FCI Number
264
GTP Breed
Mastiff
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
FCI Number
264
GTP Breed
Mastiff
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD
FCI Number
264
GTP Breed
Mastiff
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
FCI Number
264
GTP Breed
Mastiff
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
Rho
Mutation
c.11C>G
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD
FCI Number
264
GTP Breed
Mastiff
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
RHO
Mutation
c.11C>G; p.Thr4Arg
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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