OMIA 002444-9913 : Hydrallantois, SLC12A1-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601678 (trait) , 600839 (gene)

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).

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."

Breed: Japanese Black.

Associated gene:

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

Variants

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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 Hydrallantois SLC12A1 missense Naturally occurring variant ARS-UCD1.2 10 g.62157819G>A p.(P372L) 2016 27613513

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.
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.

Edit History


  • Created by Imke Tammen2 on 30 Sep 2021
  • Changed by Imke Tammen2 on 30 Sep 2021