Dog Coat Color - E Locus (Extension; e1)

Acronym:	E Locus (e1)
Gene:	MC1R
Mutation:	c.916C>T
Inheritance:	Autosomal Recessive
Sample type:	CHS (Cheek Swab), WBE (Whole Blood EDTA)

---

Genetics and characteristics

E locus (extension) is also known as the melanocortin 1 receptor (MC1R). MC1R was the first gene studied using molecular approaches in dogs. The E locus has three known alleles in dogs: Em > E > e. The wild-type allele, E, encodes a functional MC1R that allows for the expression of the Agouti and K locus alleles. Coat color phenotypes that show a mixture of pheomelanin and eumelanin in different regions of the body are generally caused by regional expression of Agouti or genetically unstable MC1R alleles associated with somatic mosaicism. A black mask is a characteristic pattern in which red, yellow, tan, fawn, or brindle dogs exhibit a melanistic muzzle that may extend up onto the ears. A melanistic mask is inherited in several breeds as an autosomal dominant trait and appears to be a fixed trait in a few breeds of dogs.

 

---

Results Reported As

 

 

 

 

 

 

 

 

 

 

---

References:

Newton, J.M., Wilkie, A.L., He, L., Jordan, S.A., Metallinos, D.L., Holmes, N.G., Jackson, I.J., and Barsh, G.S. (2000). Melanocortin 1 receptor variation in the domestic dog. Mamm. Genome 11, 24–30.

Schmutz, S.M., and Berryere, T.G. (2007). Genes affecting coat colour and pattern in domestic dogs: a review. Anim. Genet. 38, 539–549.

Schmutz, S.M., Berryere, T.G., Ellinwood, N.M., Kerns, J.A., and Barsh, G.S. (2003). MC1R Studies in Dogs With Melanistic Mask or Brindle Patterns. J Hered 94, 69–73.