Select your country
Loading...
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.
$ 50.00
1
Associated Breed(s):
Click here to view Associated Breeds
Category:
Genetic Diseases
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Gene:
Plakophilin 1 (PKP1) on Chromosome 7
Variant Detected:
c.205+1 G>C Splice site and frameshift mutation
Mode of Inheritance:
Recomended Screening:
Research Citation(s):