Disease overview

Amelogenesis imperfecta (AI) is characterized by defective tooth enamel production. Enamel is the hardest substance in your body and its main job is to protect teeth from damage. Affected dogs exhibit discolored teeth with brown mottling. Teeth can have rough edges and be unusually small and sharp.

Gene name

ACP4

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs of AI include teeth that are hypoplastic (thin enamel), hypomature (normal enamel thickness but discolored and softer than normal enamel), hypocalcified (normal enamel thickness but extremely weak), or a mix of these conditions. Teeth are generally discolored and easily stained. They may be rough and unusually small and sharp, with wider gaps between teeth.

How is it diagnosed

A veterinarian will conduct a thorough wellness exam that includes an oral examination, evaluation of clinical signs, and review of health history. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

, American Akita

Citations

Kim YJ, Lee Y, Kasimoglu Y, Seymen F, Simmer JP, Hu JC, Cho ES, Kim JW. Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta. J Dent Res. 2022 Jan;101(1):37-45. doi: 10.1177/00220345211015119. Epub 2021 May 26. PMID: 34036831; PMCID: PMC8721729.

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 May;138(5):525-533. doi: 10.1007/s00439-019-01997-8. Epub 2019 Mar 15. PMID: 30877375; PMCID: PMC6536466.

https://www.dentistrytoday.com/developmental-defects-linked-to-genes-in-canine-enamel/

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.