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BUFF (dilute coat color) in the Nova Scotia Duck Tolling Retriever (NSDTR)

Buff is a recessively inherited coat color variant that occurs in the NSDTR. Buff is a disqualifying feature for the show ring but otherwise appears to cause no health issues in the breed. Puppies are born a lighter shade of red that can appear silver in color. As they age they can sometimes darken to a more red color but they are lighter than they would be without the effect of the buff mutation.

Buff coat color is caused by mutations in the gene called melanophilin which also causes dilute coat color in many other breeds (Drögemüller C, U. Philipp, B. Haase, A-R Günzel-Apel T Leeb. A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs.Journal of Heredity (2007) 98(5):468-473). The mutation that causes buff is the same exact change in the DNA sequence that causes dilute.

The mode of inheritance:

This coat color is inherited as an autosomal recessive disease meaning that affected puppies inherited one mutant copy of this gene from each of their parents. 

The test:

BUFF N/N: This dog has two normal copies of the BUFF gene
BUFF N/A: This dog has one mutant (abnormal) copy of the BUFF gene
BUFF A/A: This dog has two mutant (abnormal) copies of the BUFF gene

Counseling:

BUFF is inherited as an autosomal recessive disease meaning that animals that are N/A are normal colored but can produce buff colored puppies if bred to a buff colored dog (A/A) or another carrier (N/A). Buff carriers will produce 50% carrier puppies.

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