Lethal Acrodermatitis (LAD)
Kodas: H463
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 | |
|---|---|
| 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
- 10 working days