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. |