Dilute In Briards

from Martine Huslig at BriardTalk list:

With many thanks to the owners of the 2 litters that were recently born with dilute puppies... I am pleased and excited to announce that the mutation for dilute in Briards has been identified!!!! Testing will now be able to determine if a Briard has the dilute gene or not.
I must thank the members of Briard Talk for helping this event to occur! After a discussion in Feb 06 on Briard Talk about blue, dilute color etc... I was prompted to do more research on canine coat color and dilute. I discovered that the gene responsible for dilute had been isolated and contacted the researcher who was doing this work. She informed me that no Briard had been studied. She was VERY close to having a manuscript due for publication and did not have time to get many Briard samples in to be studied but at the time the Briard studied was negative for the mutation she had identified.
When the recent litters with dilute puppies were born, I of course contacted her about this and she referred me to a researcher in Switzerland who is continuing this work and who has identified a different mutation in this gene.
Blood samples from the new dilute puppies, their littermates and their parent were sent to Switzerland and the dilute Briard puppies were found to have the same gene mutation (change in the gene) responsible for dilute that has been identified in Doberman Pinscher, German Pinscher, Miniature Pinscher, Large Munsterlander, Rhodesian Ridgeback and Beagle. Interestingly some of these breeds have Color Dilution Alopecia (CDA) while others - beagles - have never had a case of CDA identified. These researchers are now trying to figure out why.... (if anyone has knows of a Briard with CDA - then these researchers would be very interested in a blood sample on the dog - but I have never heard of it - it will be interesting to see what they find going forward...) www.genetics.unibe.ch/content/e2353/e2694/index_eng.html
Testing for this gene mutation in not currently available in North America but is available in Germany www.tieraerztliches-institut.uni-goettingen.de/moldiag_e.html You might be surprised - it was less difficult that I thought to send samples to Europe. I am happy to assist anyone who might be interested in sending in samples to be tested. The cost for testing is 68.97 Euro - about 93 dollars US.
This is EXCITING because carriers can be identified and anyone who does not want to have a dilute puppy has no worries! Holly was EXCITED to learn that her keeper puppy - Mr. Green - is NOT a carrier of the gene and therefore will produce NO dilute puppies!!! Sorry - but I think all of this is just so WAY cool and it is a particular bonus that Holly's keeper is not a carrier. SEVERAL of the puppies were identified as non-carriers!!!
Best wishes to all!
Martine
www.briardsbriards.com
PS - please feel free to forward this to other Briard owners... I imagine some in Europe will be interested as well!

Complete research in pdf file (287kb) is here:
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Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs (2005)
A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs (2007)