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Lethal Acrodermatitis (LAD) is a genodermatosis with autosomal recessive inheritance in Bull Terriers and Miniature Bull Terriers.
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Specifiche
| Breeds | Bull Terrier Inglese Miniatura, Bull Terrier Inglese taglia normale |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
Il fenotipo LAD è presente come scarsa crescita, carenza immunitaria e lesioni cutanee, che è principalmente posizionato alle zampe.
Informazioni aggiuntive
Pathogenesis of LAD remains unclear. Nevertheless, prevention of unintentional production of LAD affected dogs is advised.
Riferimenti
Pubmed ID: 29565995
Omia ID: 2146