In other species: dog , domestic cat , taurine cattle

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 171050 (gene) , 120080 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

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).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).