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Dog DNA testing illustration

Junctional Epidermolysis Bullosa (JEB, LAMA3-related) – Australian Cattle Dog

Code: H718

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. This variant of the disease, LAMA3-related Junctional Epidermolysis Bullosa, is caused by a recessive mutation to the gene LAMA3. It has been observed in the Australian Cattle Dog (this test) and in the German Pointer.

Specifications

Breeds

Australian Cattle Dog
Gene

LAMA3
Chromosome

7
Mutation

c.8615A>T
Organ

Integumentary System
Specimen

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

Autosomal Recessive

Clinical features

Affected puppies may be stillborn, and survivors present with skin fragility, difficulty breathing, stunted growth and general failure to thrive. Other symptoms include frequent choking while eating or drinking, loss of claws, and ulcers and scarring on e.g. footpads, mouth, abdomen and groin. An affected dog may die within several months, or otherwise be euthanized on humane grounds due to the severity of the symptoms.

References

Pubmed ID: 34250689

Year published: 2021

Omia ID: 1677

Omia variant ID:

Turnaround information

  • 15 working days