Junctional Epidermolysis Bullosa (JEB, LAMA3-related) – German Pointer
Kodas: H861
Short description
Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.
General information
Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia is usually required for affected dogs. The specific version of the disease analysed in this test, known as Junctional Epidermolysis Bullosa (JEB), is caused by a recessive mutation to the gene LAMA3. This variant is found in the German Shorthaired Pointer. A closely related variant is also found in the Australian Cattle Dog.
Specifications
| Breeds | |
|---|---|
| Gene | LAMA3 |
| Chromosome | 7 |
| Mutation | c.4818+207ins6.5kb |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected dogs show general symptoms of skin fragility, including painful blistering of the skin and mucous membranes, as well as the formation of ulcers on the paw pads.
References
Pubmed ID: 15737193
Year published: 2005
Omia ID: 1677
Omia variant ID:
Turnaround information
- 10 working days