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Pulmonary Surfactant Metabolism Dysfunction is a lethal genetic defect found in the Airedale Terrier, causing puppies to be born with severely dysfunctional lungs.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 34 |
| Mutation | c.1,159G>A |
| Mode of Inheritance | Autosomal Recessive Lethal |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Pulmonary Surfactant Metabolism Dysfunction is a lethal genetic defect found in the Airedale Terrier, causing puppies to be born with severely dysfunctional lungs. The disease is caused by a recessive mutation to the gene LAMP3.
Caractéristiques cliniques
Affected puppies are born with fluid-filled, congested, poorly-functioning lungs. Within the first few days of life, they will develop severe breathing difficulties and lethargy, and are likely to die or require euthanasia within the first week.
Additional Information
Références
Pubmed ID: 32150563
Year published: 2020
Omia ID: 2251
Omia variant ID: 1168