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OMIA 001360-9913 : Trimethylaminuria (fishy taint) in Bos taurus

In other species: Mallard , chicken , Japanese quail

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 602079 (trait) , 136132 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Molecular basis: In a neat piece of comparative detective work, Lunden et al. (2002; Genome Research 12:1885-1888) investigated whether the fishy off-flavour occasionally reported in cow's milk could be an animal model of fish-odor syndrome in humans, an inborn error of metabolism characterised by a fishy body odor, and known to be due to mutations in the gene for flavin-containing mono-oxygenase 3 (FMO3). They were able to show that this is, indeed, the case: fishy off-flavor in cow's milk is due to a nonsense mutation (R238X) in FMO3 in cattle [FN 13 Jan 2003]

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FMO3 flavin containing monooxygenase 3 Bos taurus 16 NC_037343.1 (38649500..38676494) FMO3 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Swedish Red and White Trimethylaminuria (fishy taint) FMO3 nonsense (stop-gain) UMD3.1 16 g.39523051C>T c.712C>T p.(R238*) rs797790546 2002 12466292 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; rsID gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
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References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2002 Lundén, A., Gustafsson, V., Imhof, M., Gauch, R., Bosset, J.O. :
High trimethylamine concentration in milk from cows on standard diets is expressed as fishy off-flavour. J Dairy Res 69:383-90, 2002. Pubmed reference: 12369409.
Lunden, A., Marklund, S., Gustafsson, V., Andersson, L. :
A nonsense mutation in the FMO3 gene underlies fishy off-flavor in cow's milk Genome Research 12:1885-1888, 2002. Pubmed reference: 12466292. DOI: 10.1101/gr.240202.

Edit History


  • Created by Frank Nicholas on 10 Sep 2005
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Sep 2012
  • Changed by Frank Nicholas on 30 Nov 2013