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Dog DNA testing illustration

Lethal Acrodermatitis (LAD)

Code: H463

74,72 €

Sample details

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

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Short description

Lethal Acrodermatitis (LAD) is a genodermatosis with autosomal recessive inheritance in Bull Terriers and Miniature Bull Terriers.

General information

Lethal Acrodermatitis (LAD) is a genodermatosis with autosomal recessive inheritance in Bull Terriers and Miniature Bull Terriers. The disease is caused due to skipping of exon 4 in the MLKN1 transcript, which leads to a shift in the MLKN1 reading frame. MLKN1 endoces for the intracellular protein muskelin 1, which functions for morphology, cell adhesion, spreading and intracellular transport.

Specifications

Breeds

Bull Terrier, Miniature Bull Terrier
Gene

MKLN1
Chromosome

14
Mutation

c.400+3A>C
Organ

Integumentary System
Specimen

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

Autosomal Recessive
Also known as

LAD

Clinical features

The LAD phenotype is present as poor growth, immune deficiency, and skin lesions, which is mainly positioned at the paws.

Additional information

Pathogenesis of LAD remains unclear. Nevertheless, prevention of unintentional production of LAD affected dogs is advised.

References

Pubmed ID: 29565995

Year published: 2018

Omia ID: 2146

Omia variant ID:

Turnaround information

  • 15 working days