Gene involved ENAM
Mutation tested c.716C>T
Transmission mode : Autosomal recessive
Publication : Hytönen et al. (2019). Canine models of human amelogenesis imperfecta: identi cation of novel recessive ENAM and ACP4 variants.
Gene involved ACP4
Mutation tested c.1189dupG
Transmission mode : Autosomal recessive
Publication : Hytönen et al. (2019). Canine models of human amelogenesis imperfecta: identi cation of novel recessive ENAM and ACP4 variants.
Gene involved SCL24A4
Mutation tested c.1530_1531insCTGGGCAT GTGCGTGCTGGCC
Transmission mode : Autosomal recessive
Publication : Pedersen et al. (2017). An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity.
Gene involved ENAM
Mutation tested c.1992_1996delTTTCC
Transmission mode : Autosomal recessive
Publication : Gandolfi et al. (2013). Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds.