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In the Birman cat breed, a hereditary disorder has been observed that results in hypotrichosis (loss of hair) and thymic aplasia (an underdeveloped thymus), resulting in a drastically lowered life expectancy.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | E1 |
| Mutation | c.1030_1033delCTGT |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
In the Birman cat breed, a hereditary disorder has been observed that results in hypotrichosis (loss of hair) and thymic aplasia (an underdeveloped thymus), resulting in a drastically lowered life expectancy. The disorder is caused by a recessive mutation to the gene FOXN1.
Caractéristiques cliniques
Affected kittens are born hairless, and only develop a sparse and shortened coat, as well as wrinkled and greasy-seeming skin. They are prone to infections of the airways, digestive system and skin. Survival past the age of 8 months is unlikely, and euthanasia on humane grounds is likely to be considered.
Additional Information
Références
Pubmed ID: 25781316
Year published: 2015
Omia ID: 1949
Omia variant ID: