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H093

Canine Ectodermal dysplasia (CED) is a disorder that is characterized by hairlessness and abnormal teeth development.

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Specifications

Breeds

, ,

Gene

Chromosome

17

Mutation

c.57_63dup7

Organ

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Incomplete Dominant

Also known as

FOXI3

General information

Canine Ectodermal dysplasia (CED) is a disorder that is characterized by hairlessness and abnormal teeth development. This specific form of CED affects Chinese Crested Dogs, Peruvian Hairless Dogs and Xoloitzcuintlis, and is caused by an autosomal incomplete dominant mutation in the Forkhead Box I3 gene (FOXI3). This gene is part of a gene family that is involved in hair, ear, jaw and dental development.

Clinical features

Affected dogs typically show a varying degrees of hairlessness, depending on the breed. This may range from complete hairlessness to the presence of tufts of hair on the head, tail and lower limbs. Additionally, these dogs often exhibit missing or misshapen teeth. Clinical signs are often evident at birth.

Additional information

In the Chinese Crested dogs, the FOXI3 mutation is considered homozygous lethal mainly because litters are consistently smaller than expected and no homozygous puppies are currently observed .

References

Pubmed ID: 18787161

Year published: 2008

Omia ID: 323

Omia variant ID:

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.