Gene involved CNGA3
Mutation tested c.1931_1933delTGG
Transmission mode : Autosomal recessive
Publication : Tanaka et al. (2015). Canine CNGA3 gene mutations provide novel insights into human achromatopsia-associated channelopathies and treatment.
Gene involved CNGA3
Mutation tested c.1270C>T
Transmission mode : Autosomal recessive
Publication : Tanaka et al. (2015). Canine CNGA3 gene mutations provide novel insights into human achromatopsia-associated channelopathies and treatment.
Gene involved CNGB3
Mutation tested c.784G>A
Transmission mode : Autosomal recessive
Publication : Sidjanin et al. (2002). Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.
Gene involved CNGB3
Mutation tested complete deletion
Transmission mode : Autosomal recessive
Publication : Sidjanin et al. (2002). Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.