The detail information of Progressive retinal atrophy, MERTK-related
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: 2017

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB238 Swedish Vallhund 31.8-34.9 cm (male), 29.2-32.4 cm (female) 9.1-15.9 kg Sweden
Associated Gene
Symbol Description Species Position Other Links
MERTK MER proto-oncogene, tyrosine kinase Canis lupus familiaris Chr17 : 37111333 - 37223997 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.
2017 Everson,R.,Pettitt,L.,Forman,O.P.,Dower-Tylee,O.,McLaughlin,B.,Ahonen,S.,Kaukonen,M.,Komáromy,A.M.,Lohi,H.,Mellersh,C.S.,Sansom,J.,Ricketts,S.L.: :
An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PLoS One 12:e0183021, 2017.
Pubmed reference: 28813472 . DOI: 10.1371/journal.pone.0183021 .
2014 Ahonen,S.J.,Arumilli,M.,Seppälä,E.,Hakosalo,O.,Kaukonen,M.K.,Komáromy,A.M.,Lohi,H.: :
Increased expression of MERTK is associated with a unique form of canine retinopathy. PLoS One 9:e114552, 2014.
Pubmed reference: 25517981 . DOI: 10.1371/journal.pone.0114552 .
2014 Cooper,A.E.,Ahonen,S.,Rowlan,J.S.,Duncan,A.,Seppälä,E.H.,Vanhapelto,P.,Lohi,H.,Komáromy,A.M.: :
A novel form of progressive retinal atrophy in Swedish vallhund dogs. PLoS One 9:e106610, 2014.
Pubmed reference: 25198798 . DOI: 10.1371/journal.pone.0106610 .
2013 AmericanCollegeofVeterinaryOphthalmologists,GeneticsCommittee: :
Ocular disorders presumed to be inherited in purebred dogs. 6th ed American College of Veterinary Ophthalmologists, Meridian ID :, 2013.