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Amelogenesis Imperfecta (Akita Type)

Amelogenesis Imperfecta (Akita Type)

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Test Overview:

Avoid breeding affected dogs homozygous for the ACPT mutation, as all offspring will be carriers. Avoid carrier × carrier matings which have a 25% chance of producing affected puppies. Breed carriers only to genetically clear (non-carrier) dogs to prevent affected offspring but some puppies will be carriers. Routine genetic screening of breeding stock in Akitas is recommended to identify carriers and guide responsible breeding. Breed clubs and veterinary genetics organisations may provide breeding guidelines to help reduce and eventually eliminate AI in Akitas while maintaining genetic diversity.

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 ,

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