The detail information of Photoreceptor dysplasia
OMIA Basic Information
Possible human homologues (MIM numbers): -
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2019
Species-specific name: -
Species-specific symbol: pd
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB161 | Miniature Schnauzer | 30.5-35.6 cm | 5-9.1 kg | Germany |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| PPT1 | palmitoyl-protein thioesterase 1 | Canis lupus familiaris | Chr15 : 2902313 - 2973313 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2019 |
Murgiano,L.,Becker,D.,Torjman,D.,Niggel,J.K.,Milano,A.,Cullen,C.,Feng,R.,Wang,F.,Jagannathan,V.,Pearce-Kelling,S.,Katz,M.L.,Leeb,T.,Aguirre,G.D.: :
Complex Structural <i>PPT1</i> Variant Associated with Non-syndromic Canine Retinal Degeneration. G3 (Bethesda) 9:425-437, 2019. Pubmed reference: 30541930 . DOI: 10.1534/g3.118.200859 . |
| 1999 |
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 . |
| 1998 |
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 . |
| 1991 |
Parshall,C.,Wyman,M.,Nitroy,S.,Acland,G.,Aguirre,G.: :
Photoreceptor dysplasia: an inherited progressive retinal atrophy of miniature schnauzer dogs. Prog. Vet. Comp. Ophth. 1:187-203, 1991. |