OMIA 001402-9685 : Multidrug resistance 1 in Felis catus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 171050

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Key variant is published: no

Molecular basis: By sequencing the most obvious functional candidate gene in 8 cats that showed "adverse reactions to P-glycoprotein substrate drugs" (including one sensitive to ivermectin), Mealey and Burke (2015) discovered a 2bp deletion in the ABCB1 gene (11930_1931del TC) that was homozygous in the one cat sensitive to ivermectin. However, the other 7 sensitive cats were homozygous for a normal functional ABCB1 allele. In addition, "14 missense mutations were identified in one or more phenotyped cats". It remains to be seen whether the deletion mutation or any of the missense mutations fulfils

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 Felis catus A2 NC_018724.3 (93334660..93099611) ABCB1 Homologene, Ensembl, NCBI gene

Reference


2015 Mealey, K.L., Burke, N.S. :
Identification of a nonsense mutation in feline ABCB1. J Vet Pharmacol Ther 38:429-33, 2015. Pubmed reference: 25660379. DOI: 10.1111/jvp.12212.

Edit History


  • Created by Frank Nicholas on 14 Nov 2015
  • Changed by Frank Nicholas on 14 Nov 2015