In other species: dog , domestic cat , taurine cattle

Categories: 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: 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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Thüringer Wald Ziege, Germany (Goat) (VBO_0009497).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below