OMIA:002444-9913 : Hydrallantois, SLC12A1-related in Bos taurus (taurine cattle)
Categories: Embryo phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific name: Information relating to this phene was previously listed under: OMIA 002053-9913 : Hydrallantois in Bos taurus
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."
Mapping: Using autozygosity mapping, Sasaki et al. (2016) mapped this diorder in Japanese Black cattle to a 3.52 Mb region on bovine chromosome BTA10.
Molecular basis: 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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Sakamoto et al. (2020) "observed a homozygote with the SLC12A1 risk allele over a long‐term period. The calf did not show any obvious clinical symptoms, although it did exhibit a slight growth retardation that accompanied mild calciuria. At 28 months of age, the homozygote showed renal dysfunction, which in turn resulted in hydronephrosis. The time course of the symptoms was consistent with the phenotype of Bartter syndrome in humans [see MIM hyperlink above]. . . . Therefore, we emphasize that both the fetal‐ and late‐stage symptoms associated with the SLC12A1 risk allele compromise animal welfare, and consequently may result in severe economic losses for individual farmers if the SLC12A1 risk allele is not eliminated from the population."
Japanese Black, Japan (Cattle) (VBO_0004987).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC12A1||solute carrier family 12 (sodium/potassium/chloride transporter), member 1||Bos taurus||10||NC_037337.1 (62182501..62094457)||SLC12A1||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|
|222||Japanese Black, Japan (Cattle)||Hydrallantois||SLC12A1||missense||Naturally occurring variant||ARS-UCD1.2||10||g.62157819G>A||p.(P372L)||2016||27613513|
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.
|2020||Sakamoto, Y., Hasegawa, K., Moriwaki, S., Hara, Y., Hamada, Y., Sasaki, S. :|
|A long-term study of the effects of SLC12A1 homozygous mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle. Anim Sci J 91:e13415, 2020. Pubmed reference: 32671963. DOI: 10.1111/asj.13415.|
|2016||Sasaki, S., Hasegawa, K., Higashi, T., Suzuki, Y., Sugano, S., Yasuda, Y., Sugimoto, Y. :|
|A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle. BMC Genomics 17:724, 2016. Pubmed reference: 27613513. DOI: 10.1186/s12864-016-3035-1.|
- Created by Imke Tammen2 on 30 Sep 2021
- Changed by Imke Tammen2 on 30 Sep 2021