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Coat Colour Panda White Spotting

Breed: ALL

Generic Phene Data

General

Disease Name
Coat Colour Panda White Spotting
Disease Name 2
Coat Colour, White Spotting, KIT-related
OMIA
1737
Gene Name
KIT
Mutation
c.1960_1962delCTC
Mutation 2
p.Leu654del
Test Type
Other Genetic Traits
Details
The Panda coat pattern is characterized by symmetrical markings of white forelock, chest, abdomen, collar, muzzle, and tip of the tail. The amount of white can vary. In the homozygous state (2 copies of the mutation), the Panda mutation is considered embryonic lethal as no live dogs with the pattern and with 2 copies of the mutation have been observed. Heterozygous (1 copy of the mutation) dogs do not have any reported health defects associated with this coat pattern.
Details 2
Variable degree of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of skin melanocytes. The white-spotting allele appears to be autosomal dominant with respect to coat colour and recessive lethal.
Published
Wong, A.K., Ruhe, A.L., Robertson, K.R., Loew, E.R., Williams, D.C., Neff, M.W. : A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs. Anim Genet 44:305-10, 2013. Pubmed reference: 23134432. DOI: 10.1111/age.12006.
Published 2
Gerding, W.M., Akkad, D.A., Epplen, J.T. : Spotted Weimaraner dog due to de novo KIT mutation. Anim Genet 44:605-6, 2013. Pubmed reference: 23659249. DOI: 10.1111/age.12056.
Body/System/Process
Coat Colour/Pattern/Type
Inheritance
AD

Breed Specific Data

Veterinary Genetics Laboratory

Link to GTP
Breed
ALL
Gene Name
KIT
Mutation
c.1960_1962delCTC; p.Leu654del
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wong AK, AL Ruhe, KR Robertson, ER Loew, DC Williams and MW Neff. A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs. Animal Genetics 2013 Jun;44(3):305-310. doi: 10.1111/age.12006. Epub 2012 Nov 8.

VHL Genetics

Link to GTP
Breed
ALL
Gene Name
KIT
Mutation
c.1960_1962delCTC; p.Leu654del
Nature of test
mutation test
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