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Amelogenesis Imperfecta (Jack Russell Terrier Type), Variant 1

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Test Overview:

Do not breed affected dogs that are homozygous for the ENAM mutation to prevent affected litters. Avoid carrier × carrier matings since these have a 25% chance of producing affected puppies. Breed carriers only to clear (non-carrier) dogs, which prevents affected puppies but may produce carriers. Genetic testing of breeding dogs is highly recommended for effective disease management. Breed clubs and genetic testing labs often provide guidelines and support for managing AI in Jack Russell Terrier populations.

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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