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Amelogenesis Imperfecta (Discovered in the Italian Greyhound)

Amelogenesis Imperfecta (AI) is a disorder that affects the hard enamel coating of the teeth. Dogs with this condition suffer from enamel thinning and roughening and discoloration of the teeth.

Found in

1 in 2,500 dogs

in our testing

Key Signs

Discolored teeth, Enamel roughening, Enamel thinning, Small pointed teeth

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with AI

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about AI

Amelogenesis imperfecta is characterized by defects in the enamel formation of both baby teeth and permanent teeth. Enamel formation starts before the eruption of the first teeth and there will be no subsequent repair of the enamel after eruption. The enamel of affected teeth erodes more rapidly over the years than normal enamel. The teeth of affected dogs are pitted, rough, and discolored brown. Affected teeth are often small and pointed with increased gaps. This form of amelogenesis imperfecta is relatively mild, and the affected teeth function in a nearly normal fashion. There is no treatment available for amelogenesis imperfecta, but most dogs live a normal life with mild signs.

For dogs affected with this condition, particular attention should be paid to maintaining good dental health. Dental intervention may be needed in some cases.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

Amelogenesis Imperfecta (Discovered in the Italian Greyhound) is autosomal recessive meaning that two copies of the mutation are needed for disease signs to be shown. A carrier dog with one copy of the AI mutation can be safely bred with a clear dog with no copies of the AI mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the AI mutation. A dog with two copies of the AI mutation can be safely bred with a clear dog. The resulting puppies will all be carriers. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the AI mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene ENAM
Variant Deletion
Chromosome 13
Coordinate Start 59,946,494
Coordinate End 59,946,498

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Gandolfi, B., Liu, H., Griffioen, L., & Pedersen, N. C. (2013). Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds. Animal Genetics, 44(5), 569–578. View the article