Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2001
Species-specific name: Invermectin sensitivity
Species-specific symbol: -
More detail information can see in
iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
---|---|---|---|---|---|---|
CB16 | Australian Shepherd | 50.8-58.4 cm (male), 45.7-53.3 cm (female) | 24.9-31.8 kg (male), 15.9-24.9 kg (female) | United States | ||
CB43 | Border Collie | 48.3-55.9 cm (male), 45.7-53.3 cm (female) | 13.6-20.4 kg (male), 12.2-19.1 kg (female) | United Kingdom (Scotland, England, Wales) | ||
CB79 | Collie | 61-66 cm (male), 55.9-61 cm (female) | 27.2-34 kg (male), 22.7-29.5 kg (female) | |||
CB110 | German Shepherd Dog | 61-66 cm (male), 55.9-61 cm (female) | 29.5-40.8 kg (male), 22.7-31.8 kg (female) | Germany | ||
CB174 | Old English Shepherd Dog | 55.9 cm & up (male), 53.3 cm & up (female) | 27.2-45.4 kg | United Kingdom (England) | ||
CB216 | Shetland Shepherd Dog | 33-40.6 cm | 6.8-11.3 kg | United Kingdom (Scotland) | ||
CB392 | Spanish Hound | 52.1-57.2 cm (male), 48.3-53.3 cm (female) | Spain | |||
CB467 | St. John's Water Dog | Newfoundland/Canada |
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
ABCB1 | ATP-binding cassette, sub-family B (MDR/TAP), member 1 | Canis lupus familiaris | Chr14 : 13507439 - 13410127 | Homologene, Ensembl, NCBI gene |
2019 |
Gagliardo,T.,Gandini,G.,Gallucci,A.,Menchetti,M.,Bianchi,E.,Turba,M.E.,Cauduro,A.,Corlazzoli,D.S.,Gianni,S.,Baroni,M.,Bernardini,M.,Gentilini,F.: :
ABCB1 c.-6-180T>G polymorphism and clinical risk factors in a multi-breed cohort of dogs with refractory idiopathic epilepsy. Vet J 253:105378, 2019. Pubmed reference: 31685133 . DOI: 10.1016/j.tvjl.2019.105378 . |
2019 |
Maués,T.,El-Jaick,K.B.,Costa,F.B.,Freitas,P.V.S.,Moreira,A.S.,Castro,L.,Ferreira,M.L.G.,Ferreira,A.M.R.: :
Could polymorphisms in ABCB1 gene represent a genetic risk factor for the development of mammary tumors in dogs? Vet J 248:58-63, 2019. Pubmed reference: 31113564 . DOI: 10.1016/j.tvjl.2019.04.010 . |
2019 |
Silvestro,C.A.,Soria,L.A.,Conte,A.,Marrube,G.: :
Two methods for genotyping a 4-base deletion in the canine <i>ABCB1</i> gene. J Vet Diagn Invest 31:889-892, 2019. Pubmed reference: 31711409 . DOI: 10.1177/1040638719887374 . |
2018 |
Myers,M.J.,Martinez,M.,Li,F.,Howard,K.,Yancy,H.F.,Troutman,L.,Sharkey,M.,Myers,M.J.,Martinez,M.,Li,F.,Howard,K.,Yancy,H.F.,Troutman,L.,Sharkey,M.: :
Impact of ABCB1 genotype in Collies on the pharmacokinetics of R- and S-fexofenadine. J Vet Pharmacol Ther 41:805-814, 2018. Pubmed reference: 30020547 . DOI: 10.1111/jvp.12696 . |
2016 |
Donner,J.,Kaukonen,M.,Anderson,H.,Möller,F.,Kyöstilä,K.,Sankari,S.,Hytönen,M.,Giger,U.,Lohi,H.: :
Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650 . DOI: 10.1371/journal.pone.0161005 . |
2016 |
Mizukami,K.,Yabuki,A.,Kohyama,M.,Kushida,K.,Rahman,M.M.,Uddin,M.M.,Sawa,M.,Yamato,O.: :
Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J 214:21-3, 2016. Pubmed reference: 27387721 . DOI: 10.1016/j.tvjl.2016.05.004 . |
2015 |
Myers,M.J.,Martinez,M.,Li,H.,Qiu,J.,Troutman,L.,Sharkey,M.,Yancy,H.F.: :
Influence of ABCB1 Genotype in Collies on the Pharmacokinetics and Pharmacodynamics of Loperamide in a Dose-Escalation Study. Drug Metab Dispos 43:1392-407, 2015. Pubmed reference: 26153274 . DOI: 10.1124/dmd.115.063735 . |
2013 |
Mizukami,K.,Yabuki,A.,Chang,H.S.,Uddin,M.M.,Rahman,M.M.,Kushida,K.,Kohyama,M.,Yamato,O.: :
High Frequency of a Single Nucleotide Substitution (c.-6-180T>G) of the Canine MDR1/ABCB1 Gene Associated with Phenobarbital-Resistant Idiopathic Epilepsy in Border Collie Dogs. Dis Markers 35:669-72, 2013. Pubmed reference: 24302812 . DOI: 10.1155/2013/695918 . |
2013 |
Tomiyasu,H.,Goto-Koshino,Y.,Fujino,Y.,Ohno,K.,Tsujimoto,H.: :
Epigenetic regulation of the ABCB1 gene in drug-sensitive and drug-resistant lymphoid tumour cell lines obtained from canine patients. Vet J :, 2013. Pubmed reference: 24332606 . DOI: 10.1016/j.tvjl.2013.10.022 . |
2012 |
Geyer,J.,Janko,C.: :
Treatment of MDR1 mutant dogs with macrocyclic lactones. Curr Pharm Biotechnol 13:969-86, 2012. Pubmed reference: 22039792 . |
2012 |
Mizukami,K.,Chang,H.S.,Yabuki,A.,Kawamichi,T.,Hossain,M.A.,Rahman,M.M.,Uddin,M.M.,Yamato,O.: :
Rapid genotyping assays for the 4-base pair deletion of canine MDR1/ABCB1 gene and low frequency of the mutant allele in Border Collie dogs. J Vet Diagn Invest 24:127-34, 2012. Pubmed reference: 22362942 . DOI: 10.1177/1040638711425591 . |
2012 |
Parton,K.,Wiffen,E.M.,Haglund,N.D.,Cave,N.J.: :
Macrocyclic lactone toxicity due to abamectin in farm dogs without the ABCB1 gene mutation. N Z Vet J 60:194-7, 2012. Pubmed reference: 22329447 . DOI: 10.1080/00480169.2011.642770 . |
2012 |
Tappin,S.W.,Goodfellow,M.R.,Peters,I.R.,Day,M.J.,Hall,E.J.,Mealey,K.L.: :
Frequency of the mutant MDR1 allele in dogs in the UK. Vet Rec 171:72, 2012. Pubmed reference: 22735986 . DOI: 10.1136/vr.100633 . |
2011 |
Alves,L.,Hülsmeyer,V.,Jaggy,A.,Fischer,A.,Leeb,T.,Drögemüller,M.: :
Polymorphisms in the ABCB1 gene in phenobarbital responsive and resistant idiopathic epileptic Border Collies. J Vet Intern Med 25:484-9, 2011. Pubmed reference: 21488961 . DOI: 10.1111/j.1939-1676.2011.0718.x . |
2011 |
Gramer,I.,Leidolf,R.,Doring,B.,Klintzsch,S.,Kramer,EM.,Yalcin,E.,Petzinger,E.,Geyer,J.: :
Breed distribution of the nt230(del4) MDR1 mutation in dogs. Vet J 189:67-71, 2011. Pubmed reference: 20655253 . DOI: 10.1016/j.tvjl.2010.06.012 . |
2010 |
Han,JI.,Son,HW.,Park,SC.,Na,KJ.: :
Novel insertion mutation of ABCB1 gene in an ivermectin-sensitive Border Collie. J Vet Sci 11:341-4, 2010. Pubmed reference: 21113104 . |
2010 |
Hülsmeyer,V.,Zimmermann,R.,Brauer,C.,Sauter-Louis,C.,Fischer,A.: :
Epilepsy in Border Collies: clinical manifestation, outcome, and mode of inheritance. J Vet Intern Med 24:171-8, 2010. Pubmed reference: 20391637 . |
2010 |
Klintzsch,S.,Meerkamp,K.,Doring,B.,Geyer,J.: :
Detection of the nt230[del4] MDR1 mutation in dogs by a fluorogenic 5' nuclease TaqMan allelic discrimination method. Vet J 185:272-277, 2010. Pubmed reference: 19733104 . DOI: 10.1016/j.tvjl.2009.07.018 . |
2010 |
Sherman,JG.,Paul,AJ.,Firkins,LD.: :
Evaluation of the safety of spinosad and milbemycin 5-oxime orally administered to Collies with the MDR1 gene mutation. Am J Vet Res 71:115-9, 2010. Pubmed reference: 20043790 . DOI: 10.2460/ajvr.71.1.115 . |
2009 |
Barbet,JL.,Snook,T.,Gay,JM.,Mealey,KL.: :
ABCB1-1 Delta (MDR1-1 Delta) genotype is associated with adverse reactions in dogs treated with milbemycin oxime for generalized demodicosis. Vet Dermatol 20:111-4, 2009. Pubmed reference: 19171022 . DOI: 10.1111/j.1365-3164.2008.00725.x . |
2009 |
Bissonnette,S.,Paradis,M.,Daneau,I.,Silversides,DW.: :
The ABCB1-1Delta mutation is not responsible for subchronic neurotoxicity seen in dogs of non-collie breeds following macrocyclic lactone treatment for generalized demodicosis. Vet Dermatol 20:60-6, 2009. Pubmed reference: 19152588 . DOI: 10.1111/j.1365-3164.2008.00731.x . |
2008 |
Baars,C.,Leeb,T.,vonKlopmann,T.,Tipold,A.,Potschka,H.: :
Allele-specific polymerase chain reaction diagnostic test for the functional MDR1 polymorphism in dogs. Veterinary Journal 177:394-7, 2008. Pubmed reference: 17644437 . DOI: 10.1016/j.tvjl.2007.05.020 . |
2008 |
Fecht,S.,Distl,O.: :
Review of prevalence, genetic aspects and adverse effects of the mdr1-1Delta mutation in dogs. Dtsch Tierarztl Wochenschr 115:212-9, 2008. Pubmed reference: 18605373 . |
2008 |
Fecht,S.,Wöhlke,A.,Distl,O.: :
Haplotype analysis of the MDR1 flanking region in the dog breed Elo. Berl Munch Tierarztl Wochenschr 121:211-5, 2008. Pubmed reference: 18557525 . |
2008 |
Mealey,K.L.,Meurs,K.M.: :
Breed distribution of the ABCB1-1Delta (multidrug sensitivity) polymorphism among dogs undergoing ABCB1 genotyping. J Am Vet Med Assoc 233:921-4, 2008. Pubmed reference: 18795852 . DOI: 10.2460/javma.233.6.921 . |
2008 |
Mealey,KL.: :
Canine ABCB1 and macrocyclic lactones: heartworm prevention and pharmacogenetics. Vet Parasitol 158:215-22, 2008. Pubmed reference: 18922637 . DOI: 10.1016/j.vetpar.2008.09.009 . |
2007 |
Fecht,S.,Wöhlke,A.,Hamann,H.,Distl,O.: :
Analysis of the canine mdr1-1Delta mutation in the dog breed Elo. J Vet Med A Physiol Pathol Clin Med 54:401-5, 2007. Pubmed reference: 17877579 . DOI: 10.1111/j.1439-0442.2007.00966.x . |
2007 |
Geyer,J.,Klintzsch,S.,Meerkamp,K.,Wöhlke,A.,Distl,O.,Moritz,A.,Petzinger,E.: :
Detection of the nt230(del4) MDR1 mutation in White Swiss Shepherd dogs: case reports of doramectin toxicosis, breed predisposition, and microsatellite analysis. J Vet Pharmacol Ther 30:482-5, 2007. Pubmed reference: 17803743 . DOI: 10.1111/j.1365-2885.2007.00885.x . |
2007 |
Matsuura,S.,Koto,H.,Ide,K.,Fujino,Y.,Setoguchi-Mukai,A.,Ohno,K.,Tsujimoto,H.: :
Induction of chemoresistance in a cultured canine cell line by retroviral transduction of the canine multidrug resistance 1 gene. Am J Vet Res 68:95-100, 2007. Pubmed reference: 17199425 . DOI: 10.2460/ajvr.68.1.95 . |
2006 |
Henik,RA.,Kellum,HB.,Bentjen,SA.,Mealey,KL.: :
Digoxin and mexiletine sensitivity in a Collie with the MDR1 mutation. J Vet Intern Med 20:415-7, 2006. Pubmed reference: 16594604 . |
2005 |
Doering,B.,Geyer,J.,Godoy,J.R.,Moritz,A.,Petzinger,E.: :
Ivermectin neurotoxicity in dogs: A consequence of a mutation in the canine MDR 1 gene Naunyn-Schmiedeberg's Archives of Pharmacology 371:R2 only, 2005. |
2005 |
Geyer,J.,Doring,B.,Godoy,JR.,Leidolf,R.,Moritz,A.,Petzinger,E.: :
Frequency of the nt230 (del4) MDR1 mutation in Collies and related dog breeds in Germany. J Vet Pharmacol Ther 28:545-51, 2005. Pubmed reference: 16343287 . DOI: 10.1111/j.1365-2885.2005.00692.x . |
2005 |
Hugnet,C.: :
Veterinary pharmacogenetics: example of MDR1 mutation in Collie dogs Bulletin de l'Academie Veterinaire de France 158:67-70, 2005. |
2005 |
Kawabata,A.,Momoi,Y.,Inoue-Murayama,M.,Iwasaki,T.: :
Canine mdr1 gene mutation in Japan. J Vet Med Sci 67:1103-7, 2005. Pubmed reference: 16327220 . |
2005 |
Mealey,KL.,Munyard,KA.,Bentjen,SA.: :
Frequency of the mutant MDR1 allele associated with multidrug sensitivity in a sample of herding breed dogs living in Australia. Vet Parasitol 131:193-6, 2005. Pubmed reference: 15975717 . DOI: 10.1016/j.vetpar.2005.05.004 . |
2005 |
Turba,ME.,Binns,M.,Mellersh,C.,Godoy,JR.: :
Canine microsatellites associated with genes known to cause progressive retinal atrophy in dogs or retinitis pigmentosa in humans. Anim Genet 36:259-61, 2005. Pubmed reference: 15932411 . DOI: 10.1111/j.1365-2052.2005.01271.x . |
2004 |
Hugnet,C.,Bentjen,SA.,Mealey,KL.: :
Frequency of the mutant MDR1 allele associated with multidrug sensitivity in a sample of collies from France. J Vet Pharmacol Ther 27:227-9, 2004. Pubmed reference: 15305851 . DOI: 10.1111/j.1365-2885.2004.00585.x . |
2004 |
Neff,MW.,Robertson,KR.,Wong,AK.,Safra,N.,Broman,KW.,Slatkin,M.,Mealey,KL.,Pedersen,NC.: :
Breed distribution and history of canine mdr1-1Delta, a pharmacogenetic mutation that marks the emergence of breeds from the collie lineage. Proc Natl Acad Sci U S A 101:11725-30, 2004. Pubmed reference: 15289602 . DOI: 10.1073/pnas.0402374101 . |
2004 |
Sartor,LL.,Bentjen,SA.,Trepanier,L.,Mealey,KL.: :
Loperamide toxicity in a collie with the MDR1 mutation associated with ivermectin sensitivity. J Vet Intern Med 18:117-8, 2004. Pubmed reference: 14765742 . |
2003 |
Mealey,K.L.,Bentjen,S.A.: :
Sequence and structural analysis of the presumed downstream promoter of the canine mdr1 gene Veterinary and Comparative Oncology 1:30-35, 2003. |
2003 |
Mealey,KL.,Northrup,NC.,Bentjen,SA.: :
Increased toxicity of P-glycoprotein-substrate chemotherapeutic agents in a dog with the MDR1 deletion mutation associated with ivermectin sensitivity. J Am Vet Med Assoc 223:1453-5, 1434, 2003. Pubmed reference: 14627096 . |
2003 |
Nelson,OL.,Carsten,E.,Bentjen,SA.,Mealey,KL.: :
Ivermectin toxicity in an Australian Shepherd dog with the MDR1 mutation associated with ivermectin sensitivity in Collies. J Vet Intern Med 17:354-6, 2003. Pubmed reference: 12774979 . |
2003 |
Roulet,A.,Puel,O.,Gesta,S.,Lepage,JF.,Drag,M.,Soll,M.,Alvinerie,M.,Pineau,T.: :
MDR1-deficient genotype in Collie dogs hypersensitive to the P-glycoprotein substrate ivermectin. Eur J Pharmacol 460:85-91, 2003. Pubmed reference: 12559367 . |
2002 |
Mealey,KL.,Bentjen,SA.,Waiting,DK.: :
Frequency of the mutant MDR1 allele associated with ivermectin sensitivity in a sample population of collies from the northwestern United States. Am J Vet Res 63:479-81, 2002. Pubmed reference: 11939306 . |
2001 |
Mealey,KL.,Bentjen,SA.,Gay,JM.,Cantor,GH.: :
Ivermectin sensitivity in collies is associated with a deletion mutation of the mdr1 gene. Pharmacogenetics 11:727-33, 2001. Pubmed reference: 11692082 . |
2000 |
Mealey,K.L.,Bentjen,S.A.,Cantor,G.H.: :
Isolation and sequence of the promoter region of the canine multidrug resistance (P-glycoprotein) gene, MDR1 Journal of Veterinary Internal Medicine 14:359 only, 2000. |
2000 |
Paul,A.J.,Tranquilli,W.J.,Hutchens,D.E.: :
Safety of moxidectin in avermectin-sensitive collies. Am J Vet Res 61:482-3, 2000. Pubmed reference: 10803640 . |
1996 |
Steingold,S.S.,Sharp,N.J.,Fuller,F.,Page,R.L.: :
Semi-quantitative assessment of canine MDR1 mRNA using RT-PCR Proceedings of the American Association for Cancer Research Annual Meeting 37:310 only, 1996. |
1995 |
Hadrick,M.K.,Bunch,S.E.,Kornegay,J.N.: :
Ivermectin toxicosis in two Australian shepherds. J Am Vet Med Assoc 206:1147-50; discussion 1150-2, 1995. Pubmed reference: 7768734 . |
1991 |
Fassler,P.E.,Tranquilli,W.J.,Paul,A.J.,Soll,M.D.,DiPietro,J.A.,Todd,K.S.: :
Evaluation of the safety of ivermectin administered in a beef-based formulation to ivermectin-sensitive Collies. J Am Vet Med Assoc 199:457-60, 1991. Pubmed reference: 1917657 . |
1990 |
Rohrer,S.P.,Evans,D.V.: :
Binding characteristics of ivermectin in plasma from collie dogs. Vet Res Commun 14:157-65, 1990. Pubmed reference: 2345955 . |
1989 |
Hsu,W.H.,Wellborn,S.G.,Schaffer,C.B.: :
The safety of ivermectin. Comp Contin Educat Vet 11:584-589, 1989. |
1989 |
Vaughn,D.M.,Simpson,S.T.,Blagburn,B.L.,Whitmer,W.L.,Heddens-Mysinger,R.,Hendrix,C.M.: :
Determination of homovanillic acid, 5-hydroxyindoleacetic acid and pressure in the cerebrospinal fluid of collie dogs following administration of ivermectin. Vet Res Commun 13:47-55, 1989. Pubmed reference: 2475964 . |
1987 |
Paul,A.J.,Tranquilli,W.J.,Seward,R.L.,Todd,K.S.,DiPietro,J.A.: :
Clinical observations in collies given ivermectin orally. Am J Vet Res 48:684-5, 1987. Pubmed reference: 3592367 . |
1985 |
Pulliam,J.D.,Seward,R.L.,Henry,R.T.,Steinberg,S.A.: :
Investigating ivermectin toxicity in collies. Veterinary Medicine 7:33-40, 1985. |
1984 |
Campbell,W.C.,Benz,G.W.: :
Ivermectin: a review of efficacy and safety. J Vet Pharmacol Ther 7:1-16, 1984. Pubmed reference: 6368862 . |