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 .