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Amelogenesis Imperfecta (Italian Greyhound Type)

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Test Overview:

Avoid breeding two carriers to prevent producing affected puppies (25% risk per litter). Breed carriers only to clear (non-carrier) dogs, ensuring no puppies will be affected, though some may be carriers. Test all potential breeding dogs to know their ENAM mutation status using available genetic tests. Breed clubs often recommend genetic screening before mating decisions, especially in lines or regions where the trait is prevalent. Aim to reduce the frequency of the mutant allele in populations while maintaining genetic diversity.

Category:

Dental - Associated with the teeth and associated structures

Gene:

Enamelin (ENAM) on chromosome 13

Variant Detected:

chr13:59946494-59946498 (canFam3): 5 bp deletion (del TTTCC)

Severity:

Low. This disease generally causes mild signs of disease, or can be quite easily treated/managed.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Gandolfi B, Liu H, Griffioen L, Pedersen NC. Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian greyhounds. Anim Genet. 2013 Aug;44(5):569-78. [PubMed: 23638899]

Associated Breed(s):

Italian Greyhound, Mixed Breed,

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