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: 2007

Species-specific name: cmr2

Species-specific symbol: -

More detail information can see in

Associated Breeds

iDog Breed Number	Breed Name	Personality	Height	Weight	History	Breed Source
CB80	Coton de Tulear		25.4-27.9 cm (male), 22.9-25.4 cm (female)	4.1-6.8 kg (male), 3.6-5.9 kg (female)		Madagascar

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 .
2011	Guziewicz,KE.,Slavik,J.,Lindauer,SJ.,Aguirre,GD.,Zangerl,B.: : Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies. Invest Ophthalmol Vis Sci 52:4497-505, 2011. Pubmed reference: 21498618 . DOI: 10.1167/iovs.10-6385 .
2007	Guziewicz,KE.,Zangerl,B.,Lindauer,SJ.,Mullins,RF.,Sandmeyer,LS.,Grahn,BH.,Stone,EM.,Acland,GM.,Aguirre,GD.: : Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959-67, 2007. Pubmed reference: 17460247 . DOI: 10.1167/iovs.06-1374 .
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 .