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Ichthyosis is a disease of the skin, causing itch, hair loss and the formation of dry, flaky “scales”.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 23 |
| Mutation | c.1006_1019del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Ichthyosis is a disease of the skin, causing itch, hair loss and the formation of dry, flaky “scales”. It can also leave the skin vulnerable to yeast infection. This variant of the disease, referred to as Golden Retriever Ichthyosis Type 2 (ICH2), occurs in the Golden Retriever and is caused by a recessive mutation to the gene ABHD5.
Ichthyosis can in the Golden Retriever can also be caused by another genetic mutation, Golden Retriever Ichthyosis Type 1 (ICH1).
Caractéristiques cliniques
Affected dogs present with white or grey scale formation over the skin, particularly visible on the underbelly and on the inside of the ears. The scales can vary between powdery and sticking to the skin. The skin of the underbelly typically has an unusually dark pigmentation.
Additional Information
This is one of two mutant genes known to cause Golden Retriever ichthyosis.
Références
Pubmed ID: 34791225
Year published: 2022
Omia ID: 2368
Omia variant ID: