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Amelogenesis Imperfecta (Akita Type)
Test Overview:
The study revealed two new canine AI variants in ENAM and ACP4 genes. Both of these genes play a significant role in the secretory stage of amelogenesis and their defects lead to enamel hypoplasia.
Category:
Dental - Associated with the teeth and associated structures
Gene:
ACPT
Variant Detected:
c.1189dupG p.(Ala397Glyfs)
Severity:
Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
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. Pubmed reference: 30877375. DOI: 10.1007/s00439-019-01997-8.
Associated Breed(s):
Akita ,
