White Spotting (KIT-related) – Weimaraner Type

Acronym:	WSP
Gene:	KIT
Mutation:	c.1936_1938del
Inheritance:	Autosomal Recessive
Sample type:	CHS (Cheek Swab), WBE (Whole Blood EDTA)
Method:

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Genetics and characteristics

KIT-related white spotting is a general name given to a large number of white spotting patterns caused by mutations within the KIT gene in humans and other animals, including dogs. All mutations in the KIT gene affect different signaling pathways influencing the development, migration, and proliferation of melanocytes. The type of white spotting pattern that has been described in Weimaraner dogs is caused by a deletion that produces a frameshift and a premature stop codon within the KIT gene resulting in a severely truncated Kit receptor with abolished activity. The defect causes the typical light brown coat color to lighten around the greyish pigmented areas and areas of the skin such as the face, ventral abdomen, feet, and tip of the tail being devoid of melanocytes and thus non-pigmented. Mutations causing different coat colors have been often associated with the development of some health defects, but so far none has been associated with this pattern.

This type of white spotting pattern that can be found in Weimaraner dogs is inherited as an autosomal dominant trait meaning dogs with even one copy of the mutated KIT gene will have white spotting patterns. Dogs that carry two mutated KIT genes have not been observed suggesting double-mutants are recessive lethal, causing early embryonic death. Early detection by genetic testing can help identify carriers of the mutation and help breeders in the further selection of mating pairs.

 

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Results Reported As

 

 

 

 

 

 

 

 

 

 

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References:

Gerding, W. M., Akkad, D. A., Epplen, J. T. (2013). Spotted Weimaraner dog due to de novo KIT mutation. Animal genetics, 44(5), 605–606. https://doi.org/10.1111/age.12056