Ichthyosis – Great Dane
Kodas: H304
Short description
Ichthyosis is not one but rather a group of skin disorders characterised by noninflammatory scaling of the skin.
General information
Ichthyosis is not one but rather a group of skin disorders characterised by noninflammatory scaling of the skin. Many different metaphors have been used to describe the appearance and texture of the skin in the various types and stages of ichthyosis, for example fish skin.
This variant of the disorder, which occurs in the Great Dane, is caused by a recessive mutation to the gene SLC27A4.
Specifications
| Breeds | |
|---|---|
| Gene | SLC27A4 |
| Chromosome | 9 |
| Mutation | c.1250G>A |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Clinical signs of affected dogs are a generalized severe hyperkeratosis in all cases with a formation of a strongly wrinkled, thickened and scaling skin especially in the region of the eyes and nose.
Additional information
This test detects only one mutation. Therefore a dog can still develop ichthyosis as a result of (unknown) other mutations.
References
Pubmed ID: 26506231
Year published: 2015
Omia ID: 1973
Omia variant ID:
Turnaround information
- 10 working days