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Dog DNA testing illustration

Junctional Epidermolysis Bullosa (JEB, LAMB3-related) – Australian Shepherd

Code: H778

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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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 often required for affected dogs. This variant of the disorder, known as Junctional Epidermolysis Bullosa (JEB), is found in the Australian Shepherd. It is caused by a recessive mutation to the gene LAMB3.

Specifications

Breeds

Australian Shepherd
Gene

LAMB3
Chromosome

7
Mutation

c.1174T>C
Organ

Digestive System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

JEB

Clinical features

Affected puppies manifest within the first few months of life with reduced growth, as well as ulcers in the mouth, throat and ears. Further ulcers may also develop on the abdomen, joints and paw pads. These lesions are typically severe, and affected dogs are generally euthanized on humane grounds within the first six months of life.

References

Pubmed ID: 32906717

Year published: 2020

Omia ID: 2269

Omia variant ID:

Turnaround information

  • 15 working days