Progressive Retinal Atrophy, Type A
Breed: Miniature Schnauzer/ black
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Progressive Retinal Atrophy, Type A
OMIA
1311
Gene Name
PPT1
Mutation
c.244C>G
Test Type
Genetic Disease/Disorder
Details
Type A PRA is a difficult form of retinal atrophy as it appears to have incomplete penetrance or possible dominance inheritance - i.e. some carrier animals appear partially affected when examined clinically. An abnormal "shine" has been reported, in the dog's eyes. Initial night blindness will progress slowly to day blindness. It is uncertain how or if this mutation has anything to do with the disorder. Using a test for this disorder, an owner may wish to avoid using carrier or affected tested dogs, but should be aware that the definitive mutation has not yet been described and published.
Details 2
Type A PRA is a difficult form of retinal atrophy as it appears to have incomplete penetrance or possible dominance - i.e. some carrier animals appear partially affected when examined clinically. An abnormal "shine" has been reported, in the dog's eyes. Disorientation is also common symptom of PRA, particularly at night. Initial night blindness will progress slowly to day blindness. Some Miniature Schnauzers with this disorder are homozygous for the gene for phosducin. However, since some affected dogs are heterozygous for this mutation, and other affecteds are homozygous for the normal allele, it is uncertain how or if this mutation has anything to do with the disorder. (source: Zhang et al 1998)
Published
Zhang, Q., Acland, G.M., Parshall, C.J., Haskell, J., Ray, K., Aguirre, G.D. : Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia Gene 215:231-239, 1998. Pubmed reference: 9714819.
Published 2
Zhang, Q., Baldwin, V.J., Acland, G.M., Parshall, C.J., Haskel, J., Aguirre, G.D., Ray, K. : Photoreceptor dysplasia (pd) in miniature schnauzer dogs: Evaluation of candidate genes by molecular genetic analysis Journal of Heredity 90:57-61, 1999. Pubmed reference: 9987905.
Body/System/Process
Eye
OMIA Url
Inheritance
ARIP
Breed Specific Info
Researched Breeds
Miniature Schnauzer
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
unpublished
Mutation
c.244C>G