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Amelogenesis Imperfecta (Jack Russell Terrier Type), Variant 1

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Test Overview:

Amelogenesis Imperfecta (Parson Russel Terrier Type) is an inherited dental disorder affecting dogs. Affected dogs have abnormal or badly discolored teeth with irregular tooth surfaces. The deciduous or puppy teeth of these dogs may be normal, but abnormalities are apparent upon eruption of the adult teeth. The teeth are often blunted with increased space between teeth due to thinning of the enamel layer. These dogs are predisposed to dental disease and subsequent advanced periodontal disease and bad breath. Tooth loss can occur due to severe abrasions, fractures, and tooth root infections.

Category:

Dental - Associated with the teeth and associated structures

Gene:

ENAM

Variant Detected:

chr13:61004719 (canFam4): C/T

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

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. Epub 2019 Mar 15. [PubMed: 30877375]

Associated Breed(s):

Jack Russell Terrier, Mixed Breed,

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