Recessive missense mutation in the solute carrier family 12, member 1 (SLC12A1 ) gene (g.62382825G>A) is associated with hydrallantois, which is the accumulation of fluid in the allantoic cavity of a pregnant animal, and usually causes fetal death in Japanese Black cattle. However, the symptoms of a homozygote with this mutation that do not result in fetal death have not previously been tracked and evaluated. In the present study, we 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. Additionally, the risk heterozygous genotype did not any effects on carcass traits, which indicates that eliminating the risk allele would not have any unfavorable effects. 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.

中文翻译：

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日本黑牛 SLC12A1 纯合突变 (g.62382825G>A, p.Pro372Leu) 影响的长期研究。

溶质载体家族 12，成员 1 ( SLC12A1 ) 基因 (g.62382825G>A)中的隐性错义突变与尿囊有关，尿囊是怀孕动物尿囊腔内积液，在日本通常会导致胎儿死亡黑牛。然而，以前没有跟踪和评估具有这种突变但不会导致胎儿死亡的纯合子的症状。在本研究中，我们观察到SLC12A1的纯合子长期的风险等位基因。小牛没有表现出任何明显的临床症状，尽管它确实表现出轻微的生长迟缓并伴有轻度钙尿症。在 28 个月大时，纯合子表现出肾功能障碍，进而导致肾积水。症状的时间过程与人类 Bartter 综合征的表型一致。此外，风险杂合基因型对屠体性状没有任何影响，这表明消除风险等位基因不会产生任何不利影响。因此，我们强调，与SLC12A1风险等位基因相关的胎儿期和晚期症状都会损害动物福利，因此如果SLC12A1风险等位基因并未从人群中消除。