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Cat DNA testing illustration

Hypotrichosis and Short Life Expectancy – Cat

Code: K390

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

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.

General information

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.

Specifications

Breeds

Birman
Gene

FOXN1
Chromosome

E1
Mutation

c.1030_1033delCTGT
Organ

Integumentary System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

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.

References

Pubmed ID: 25781316

Year published: 2015

Omia ID: 1949

Omia variant ID:

Turnaround information

  • 15 working days