A nonsense mutation in the FMO3 gene underlies fishy off-flavor in cow's milk. Academic Article uri icon


  • Fish-odor syndrome or Trimethylaminuria (OMIM #602079) in humans is an inborn error of metabolism associated with a characteristic fishy body odor due to elevated levels of trimethylamine (TMA) in body fluids. It is caused by loss-of-function mutations in FMO3 encoding flavin-containing mono-oxygenase 3. A fishy off-flavor is occasionally observed in cow's milk and it has been established recently that this phenotype is due to elevated TMA levels. Here, we report that fishy off-flavor in cow's milk is caused by a nonsense mutation (R238X) in the bovine FMO3 ortholog. RT-PCR analysis indicated that the mutant transcript is present in a very low amount. The mutation was found to be surprisingly common (q = 0.155) in one breed of cattle.

published proceedings

  • Genome Res

altmetric score

  • 4.25

author list (cited authors)

  • Lundn, A., Marklund, S., Gustafsson, V., & Andersson, L.

citation count

  • 34

complete list of authors

  • Lundén, Anne||Marklund, Stefan||Gustafsson, Victoria||Andersson, Leif

publication date

  • December 2002