Testing of dogs: AI in Akitas

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Amelogenesis imperfecta in Akitas

Amelogenesis imperfecta (AI, congenital enamel hypoplasia) is a hereditary teeth disorder that is characterized by abnormalities in the enamel structure, composition and amount. The tooth enamel is a high mineralized substance that covers the tooth crown and protects the tooth from degradation. The enamel production or amelogenesis is a genetically controlled process and its impairment leads to amelogenesis imperfecta. Proteins that take part in the process of enamel mineralisation are enamelin (ENAM-gene), amelogenin (AMELX-gene) and acid phosphatase (ACPT). In Akitas the amelogenesis imperfecta is caused by mutation in the ACPT gene.

The tooth enamel of deciduous and permanent teeth in dogs affected by amelogenesis imperfecta is of poor quality and may be missing in some areas and is prone to attrition. The teeth have rough surface and brownish mottling occurs in areas where the enamel is thinning or missing. The teeth that are affected appear to be small and pointed with increased gaps between the teeth in comparison with the teeth of a healthy dog. This disease does not cause any other health problems.

In Akitas the amelogenesis imperfecta is caused by the mutation c.1189dupG in the ACPT gene. This disease is inherited in an autosomal recessive pattern and a dog must inherit the mutated gene from both parents to develop the symptoms of the amelogenesis imperfecta. A dog that inherits the mutated gene only from one parent does not develop any clinical symptoms, but passes this disease on to its offspring.



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 :, 2019

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Usual turnaround time: 10 business days
1 test price: 56.00 $ without VAT