Hydrallantois, SLC12A1-related
Phenotype Details
- Phene ID
- 4733
- Name
- Hydrallantois, SLC12A1-related
- Phene Name
- Information relating to this phene was previously listed under: OMIA 002053-9913 : Hydrallantois in Bos taurus
- OMIA ID
- 2444
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 222 | Hydrallantois | 388202108 | 1 | 10 | g.62157819G>A | N/A | p.(P372L) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
Inheritance
As reported by Sasaki et al. (2016): "Although the incidence of hydrallantois is very low in artificial insemination breeding programs in cattle, recently 38 cows with the phenotypic appearance of hydrallantois were reported in a local subpopulation of Japanese Black cattle. Of these, 33 were traced back to the same sire; however, both their parents were reported healthy, suggesting that hydrallantois is a recessive inherited disorder."
Molecular Genetics
Exome sequencing by Sasaki et al. (2016) within the candidate region (see Mapping section) revealed a likely causal missense variant: g.62382825G > A, p.Pro372Leu) in exon 10 of solute carrier family 12, member 1 (SLC12A1).