Congenital Methemoglobinemia

Gene involved
CYB5R3

Mutation tested
c.580A>C

Transmission mode : Autosomal recessive

Publication : Shino et al. (2018). Familial congenital methemoglobinemia in Pomeranian dogs caused by a missense variant in the NADH-cytochrome B5 reductase gene.
Zhou et al. (2019). Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog.