Other name: Familiar enamel hypoplasia (FEH)
Affected Gene: ACPT
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 1g.106051997dupC c.1189dupG p.(A397Gfs)
OMIA link: 002177-9615

Appropriate breeds for testing: Akita, American Akita, Akita Inu, Japanese Akita

Symptoms:  Amelogenesis imperfecta is a genetic condition affecting the structure, composition and quality of tooth enamel.

References:
Hytönen, M.K., Arumilli, M., Sarkiala, E., Nieminen, P., Lohi, H. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet 138:525-533, 2019. Pubmed reference: 30877375. DOI: 10.1007/s00439-019-01997-8.