Trimethylaminuria (fishy taint)
Phenotype Details
- Phene ID
- 2706
- Name
- Trimethylaminuria (fishy taint)
- Phene Name
- N/A
- OMIA ID
- 1360
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2002
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| FMO3 | 281167 | 16 | flavin containing monooxygenase 3 |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 304 | Trimethylaminuria (fishy taint) | 281167 | 1 | 16 | NC_037343.1:g.38666821C>T | NM_174057.2:c.712C>T | NP_776482.1:p.(R238*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Swedish Red and White (Cattle) | 131 | 9913 | http://purl.obolibrary.org/obo/VBO_0000392 |
Molecular Genetics
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]