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I Locus (I-LOCUS)

I Locus (I-LOCUS)

Intensity, Pheomelanin Locus Color Intensity

The I Locus (I-LOCUS) mutation acts on the expression of pheomelanin which is responsible for red to yellow pigment in a dog’s coat by changing the coat color to a white or cream color. It is important to note that a dog must have two copies of the E Locus mutation that normally expresses red to yellow coat color for the I Locus mutation to have an effect. The pigmentation of the skin and nose are unaffected and do not show the same intensity dilution. The I Locus mutation will also not affect any black color in the dog’s coat.

Reading Your Results

A. (CLEAR/NORMAL):

These dogs have two copies of the normal gene and will neither develop a pure white or cream color coat nor pass this mutation to their offspring.

B. (CARRIER/NOT AFFECTED):

These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop a pure white or cream color coat but will, if bred, pass the mutation to 50% of its offspring, on average.

C. (AT RISK/AFFECTED):

These dogs have two copies of the mutation associated with this coat type and will have a pure white or cream color coat.

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Additional Details

Inheritances

Autosomal Recessive

Affected gene

MFSD12

Chromosome

Ch. 20

Mutation

chr20:55855086: C>T

Publication:

Hedan B, Cadieu E, Botherel N, Dufaure de Citres C, Letko A, Rimbault M, Drogmuller C, Jagannathan V, Derriern T, Schmutz S, Leeb T, and Andre C. Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs. 2019 May 21; 10(5), 386. [PubMed: 31117290]

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