Amelogenesis imperfecta in Akitas
Affected Genes: ACP4
Inheritance: Autosomal Recessive Inheritance
Variant(canFam6): chr1:105626737-105626738 insert C
Breed: Akita
General Information: Amelogenesis Imperfecta (AI) is a genetic disorder in Akitas caused by a mutation in the ACP4 gene. This condition affects the development and mineralization of enamel, leading to thin, soft, or missing enamel on the teeth. AI in Akitas is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene—one from each parent—to be affected.
Symptoms of AI typically include discolored teeth (yellow or brown), increased tooth sensitivity, and a higher likelihood of tooth wear or breakage. Affected dogs may experience discomfort while eating and are more prone to dental issues, including cavities and infections. Early diagnosis and consistent dental care can help manage the condition, improve the dog's comfort, and maintain oral health.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog is a Carrier (Not Affected)
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the ACP4 gene variant can determine whether an Akita is at risk of developing Amelogenesis Imperfecta (AI). This disorder is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene to be affected.
Dogs with two copies of the mutation are likely to exhibit symptoms, while those with one copy of the mutation are carriers and will not show signs of the disease but can pass the mutation to their offspring. Genetic testing is important for responsible breeding practices, as breeding two carriers will result in a 25% chance of producing affected puppies.
References:
Hytönen MK, Arumilli M, Sarkiala E, Nieminen P, Lohi H. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet. 2019 138(5):525-533