OMIA 001402-9925 : Multidrug resistance 1, ABCB1-related in Capra hircus

In other species: dog , domestic cat , cattle

Category: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 171050 (gene) , 120080 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: unknown

Cross-species summary: MDR1

Species-specific description: Nürnberger et al. (2021): "a Thuringian goat developed ... neurological signs after treatment with doramectin, a compound from the macrocyclic lactone class. ... For diagnostic purposes, sequencing of the complete mRNA transcript coding for caprine Mdr1 was performed ... . The only position where the Mdr1 sequence from the suspected drug-sensitive goat differed was in the 3'-untranslated region, being a heterozygous single nucleotide polymorphism c.3875C>A. It can be suspected that this variant affects the expression level, stability, or translation efficiency of the Mdr1 mRNA transcript and therefore might be associated with the suspected drug sensitivity."

Breed: Thüringer Wald Ziege, Germany (Goat) (VBO_0009497).

Reference


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2021 Nürnberger, D., Müller, S.F., Hamann, M., Geyer, J. :
First sequencing of caprine Mdr1 (Abcb1) mRNA due to suspected neurological adverse drug reaction in a Thuringian goat following extra-label use of doramectin. Front Vet Sci 8:682393, 2021. Pubmed reference: 34169111. DOI: 10.3389/fvets.2021.682393.

Edit History


  • Created by Imke Tammen2 on 01 Jul 2021
  • Changed by Imke Tammen2 on 01 Jul 2021