OMIA 002053-9913 : Hydrallantois in Bos taurus

In other species: horse , goat , sheep , water buffalo

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600839

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Cross-species summary: Also known as hydrops allantois

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."

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


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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Japanese Black Hydrallantois SLC12A1 missense UMD3.1 10 g.62382825G>A p.Pro372Leu 2016 27613513


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.
2011 MacDonald, R. :
Hydrops in a heifer as a result of in-vitro fertilization. Can Vet J 52:791-3, 2011. Pubmed reference: 22210947.
2007 Buczinski, S.M., Fecteau, G., Lefebvre, R.C., Smith, L.C. :
Fetal well-being assessment in bovine near-term gestations: current knowledge and future perspectives arising from comparative medicine. Can Vet J 48:178-83, 2007. Pubmed reference: 17334032.
Drost, M. :
Complications during gestation in the cow. Theriogenology 68:487-91, 2007. Pubmed reference: 17531308. DOI: 10.1016/j.theriogenology.2007.04.023.
2006 Constant, F., Guillomot, M., Heyman, Y., Vignon, X., Laigre, P., Servely, J.L., Renard, J.P., Chavatte-Palmer, P. :
Large offspring or large placenta syndrome? Morphometric analysis of late gestation bovine placentomes from somatic nuclear transfer pregnancies complicated by hydrallantois. Biol Reprod 75:122-30, 2006. Pubmed reference: 16571872. DOI: 10.1095/biolreprod.106.051581.
2005 Lawrence, J.L., Schrick, F.N., Hopkins, F.M., Welborn, M.G., McCracken, M.D., Sonstegard, T., Wilson, T.J., Edwards, J.L. :
Fetal losses and pathologic findings of clones derived from serum-starved versus serum-fed bovine ovarian granulosa cells. Reprod Biol 5:171-84, 2005. Pubmed reference: 16100565.
1990 Collyer, J.H. :
Hydrallantois in cows. Vet Rec 127:47, 1990. Pubmed reference: 2168601.
1985 Penzhorn, B.L., Gilbert, R.O. :
Hydrallantois in a bovine leading to rupture of the prepubic tendon and abdominal musculature. J S Afr Vet Assoc 56:115, 1985. Pubmed reference: 3160858.
1981 Harker, D.B. :
Treatment of a case of bovine hydrops allantois with cloprostenol. Br Vet J 137:575-7, 1981. Pubmed reference: 7034863.
1972 Simpson, B.H. :
Letter: Hydrallantois in Ayrshire cows. N Z Vet J 20:41, 1972. Pubmed reference: 4521191. DOI: 10.1080/00480169.1972.34000.
1965 Skydsgaard, J.M. :
The pathogenesis of hydrallantois bovis. II. Electrical potential and chemical gradients between the allantoic fluid and the maternal blood in hydrallantois and normal pregnancy. Acta Vet Scand 6:208-16, 1965. Pubmed reference: 5849963.
Skydsgaard, J.M. :
The pathogenesis of hydrallantois bovis. I. The concentrations of sodium,potassium, chloride and creatinine in the foetal fluids in cases of hydrallantois and during normal pregnancy. Acta Vet Scand 6:193-207, 1965. Pubmed reference: 5848192.
1964 Oehme, F.W. :
Hydrops allantois associated with twin pregnancy and uterine rupture in a cow. J Am Vet Med Assoc 145:688-91, 1964. Pubmed reference: 5896440.
1956 Neal, P.A. :
Bovine hydramnios and hydrallantois Veterinary Record 68:89–97, 1956.

Edit History

  • Created by Frank Nicholas on 17 Oct 2016
  • Changed by Frank Nicholas on 17 Oct 2016
  • Changed by Frank Nicholas on 19 Jul 2020