Amelogenesis imperfecta (ACP4: c.1189dupG)
Amelogenesis imperfecta (AI) is a genetic disorder affecting tooth enamel, causing it to be thin, brittle, or poorly mineralized. In Akitas, a recessive variant in the ACP4 gene has been identified, leading to hypoplastic AI due to an abnormal protein structure. The carrier frequency in Akitas is 22%. While AI cannot be cured, genetic testing can help manage breeding programs and improve dental care strategies.
Transmission
Autosomal recessiveBreed
Akita, American Akita



