Canine Ectodermal Dysplasia (CED), FOXI3
Kodas: H093
Short description
Canine Ectodermal dysplasia (CED) is a disorder that is characterized by hairlessness and abnormal teeth development.
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.
Specifications
| Breeds | |
|---|---|
| Gene | FOXI3 |
| Chromosome | 17 |
| Mutation | c.57_63dup7 |
| Organ | Digestive System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Incomplete Dominant |
| Also known as | FOXI3 |
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:
Turnaround information
- 15 working days