OMIA:001360-9913 : Trimethylaminuria (fishy taint) in Bos taurus (taurine cattle) |
In other species: Mallard , chicken , Japanese quail
Categories: Homeostasis / metabolism phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602079 (trait) , 136132 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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]
Breed:
Swedish Red and White (Cattle) (VBO_0000392).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| 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 | 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.
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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 304 | Swedish Red and White (Cattle) | Trimethylaminuria (fishy taint) | FMO3 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | ARS-UCD1.3 | 16 | NC_037343.1:g.38666821C>T | NM_174057.2:c.712C>T | NP_776482.1: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 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001360-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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. DOI: 10.1017/s002202990200568x. | |
| 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
- Changed by Imke Tammen2 on 18 Jun 2024