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Ectodermal Dysplasia (Chesapeake Bay Retriever Type) Overview

Ectodermal Dysplasia (Chesapeake Bay Retriever Type)
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Category: Dermatologic - Associated with the skin

Gene: Plakophilin 1 (PKP1) on Chromosome 7

Variant Detected: c.205+1 G>C Splice site and frameshift mutation

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: Affected dogs are unable to produce a protein important for the tight adherence of skin cells to one another. Affected dogs show signs of disease at birth including fragile, pale skin that appears translucent on the ears, feet, nose, and mouth.

Research Citation(s): Olivry T, et al. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. (2012) PLoS One 7(2): e32072.

Associated Breed(s): Chesapeake Bay Retriever ,  Mixed Breed,