The detail information of Progressive retinal atrophy, Miniature Schnauzer, type 1
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: 2020
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
HIVEP3 | human immunodeficiency virus type I enhancer binding protein 3 | Canis lupus familiaris | Chr- : - - - | 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.
2020 |
Kaukonen,M.,Quintero,I.B.,Mukarram,A.K.,Hytönen,M.K.,Holopainen,S.,Wickström,K.,Kyöstilä,K.,Arumilli,M.,Jalomäki,S.,Daub,C.O.,Kere,J.,Lohi,H.: :
A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLoS Genet 16:e1008659, 2020. Pubmed reference: 32150541 . DOI: 10.1371/journal.pgen.1008659 . |
2013 |
Jeong,M.B.,Park,S.A.,Kim,S.E.,Park,Y.W.,Narfström,K.,Seo,K.: :
Clinical and electroretinographic findings of progressive retinal atrophy in miniature schnauzer dogs of South Korea. J Vet Med Sci 75:1303-8, 2013. Pubmed reference: 23719750 . DOI: 10.1292/jvms.12-0358 . |