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mdr-1 mutation


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Thought this might be interesting information for some of you. Note only 1% of border collies in this study were affected with MDR1 gene mutation. The study was in Germany though, would be interesting to compare to the US/UK populations.



Breed distribution of the nt230(del4) MDR1 mutation in dogs.

Vet J. July 2011;189(1):67-71.

Irina Gramer1; Regina Leidolf; Barbara Döring; Stefanie Klintzsch; Eva-Maria Krämer; Ebru Yalcin; Ernst Petzinger; Joachim Geyer

1Institute of Pharmacology and Toxicology, Justus Liebig University of Giessen, Frankfurter Str. 107, D-35392 Giessen, Germany.

Copyright © 2010 Elsevier Ltd. All rights reserved.


Article AbstractA 4-bp deletion mutation associated with multiple drug sensitivity exists in the canine multidrug resistance (MDR1) gene. This mutation has been detected in more than 10 purebred dog breeds as well as in mixed breed dogs. To evaluate the breed distribution of this mutation in Germany, 7378 dogs were screened, including 6999 purebred and 379 mixed breed dogs. The study included dog breeds that show close genetic relationship or share breeding history with one of the predisposed breeds but in which the occurrence of the MDR1 mutation has not been reported. The breeds comprised Bearded Collies, Anatolian Shepherd Dog, Greyhound, Belgian Tervuren, Kelpie, Borzoi, Australian Cattle Dog and the Irish Wolfhound. The MDR1 mutation was not detected is any of these breeds, although it was found as expected in the Collie, Longhaired Whippet, Shetland Sheepdog, Miniature Australian Shepherd, Australian Shepherd, Wäller, White Swiss Shepherd, Old English Sheepdog and Border Collie with varying allelic frequencies for the mutant MDR1 allele of 59%, 45%, 30%, 24%, 22%, 17%, 14%, 4% and 1%, respectively. Allelic frequencies of 8% and 2% were determined in herding breed mixes and unclassified mixed breeds, respectively. Because of its widespread breed distribution and occurrence in many mixed breed dogs, it is difficult for veterinarians and dog owners to recognise whether MDR1-related drug sensitivity is relevant for an individual animal. This study provides a comprehensive overview of all affected dog breeds and many dog breeds that are probably unaffected on the basis of ∼15,000 worldwide MDR1 genotyping data.

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