Disease Detail Information

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: 2010

Species-specific name: cmr3

Species-specific symbol: -

More detail information can see in

Associated Breeds

iDog Breed Number	Breed Name	Personality	Height	Weight	History	Breed Source
CB151	Lapponian Herder		48-54cm (male) 43-49cm (female)	31.75kg		Finland

Associated Gene

Symbol	Description	Species	Position	Other Links
BEST1	bestrophin 1	Canis lupus familiaris	Chr18 : 55534952 - 55522441	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.

2013	Guziewicz,K.E.,Zangerl,B.,Komáromy,A.M.,Iwabe,S.,Chiodo,V.A.,Boye,S.L.,Hauswirth,W.W.,Beltran,W.A.,Aguirre,G.D.: : Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epithelium: Analysis of Serotype-Dependent Retinal Effects. PLoS One 8:e75666, 2013. Pubmed reference: 24143172 . DOI: 10.1371/journal.pone.0075666 .
2012	Guziewicz,K.E.,Aguirre,G.D.,Zangerl,B.: : Modeling the Structural Consequences of BEST1 Missense Mutations. Adv Exp Med Biol 723:611-8, 2012. Pubmed reference: 22183385 . DOI: 10.1007/978-1-4614-0631-0_78 .
2012	Miyadera,K.,Acland,G.M.,Aguirre,G.D.: : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099 . DOI: 10.1007/s00335-011-9361-3 .
2010	Zangerl,B.,Wickström,K.,Slavik,J.,Lindauer,S.J.,Ahonen,S.,Schelling,C.,Lohi,H.,Guziewicz,K.E.,Aguirre,G.D.: : Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis 16:2791-804, 2010. Pubmed reference: 21197113 .
1998	Grahn,BH.,Philibert,H.,Cullen,CL.,Houston,DM.,Semple,HA.,Schmutz,SM.: : Multifocal retinopathy of Great Pyrenees dogs. Vet Ophthalmol 1:211-221, 1998. Pubmed reference: 11397233 .