Categories: Embryo phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601678 (trait) , 600839 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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, Japan (Cattle) (VBO_0004987).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: