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Alpha-Mannosidosis (AMD) is a severe metabolic disease that affects the central nervous system, resulting in loss of coordination, tremors and ultimately death.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | A2 |
| Mutation | c.1749_1752delCCAG |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | a-Mannosidosis; AMD |
Informations générales
Alpha-Mannosidosis (AMD) is a severe metabolic disease that affects the central nervous system, resulting in loss of coordination, tremors and ultimately death. In cats, the disease is caused by a recessive mutation to the gene MAN2B1. The variant analysed in this test occurs primarily in the Persian cat and related breeds.
Caractéristiques cliniques
Clinical features for affected cats can include progressive ataxia (loss of coordination), loss of apetite, lethargy and paralysis. The disease is severe, and affected cats are typically euthanized on humane grounds within the first year of age.
Additional Information
Références
Pubmed ID: 9396732
Year published: 1997
Omia ID: 625
Omia variant ID: 499