OMIA:001360-9913 : Trimethylaminuria (fishy taint) in Bos taurus (taurine cattle)
Categories: Homeostasis / metabolism phene
Links to MONDO diseases:
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]
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FMO3||flavin containing monooxygenase 3||Bos taurus||16||NC_037343.1 (38649621..38676503)||FMO3||Homologene, Ensembl , NCBI gene|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|304||Swedish Red and White (Cattle)||Trimethylaminuria (fishy taint)||FMO3||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||16||g.38666821C>T||c.712C>T||p.(R238*)||rs797790546||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 Â Sharma et al. (2017) Animal Genetics 48(3):369-370|
Cite this entry
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.|
- 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