Furosemide loading test in a case of homozygous solute carrier family 12, member 1 (SLC12A1) mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle.
Anim Sci J
; 88(10): 1459-1464, 2017 Oct.
Article
in En
| MEDLINE
| ID: mdl-28402032
ABSTRACT
Hydrallantois is the excessive accumulation of fluid in the allantoic cavity in a pregnant animal and is associated with fetal death. We recently identified a recessive missense mutation in the solute carrier family 12, member 1 (SLC12A1) gene (g.62382825G>A, p.Pro372Leu) that is associated with hydrallantois in Japanese Black cattle. Unexpectedly, we found a case of the homozygous risk-allele for SLC12A1 in a calf, using a PCR-based direct DNA sequencing test. The homozygote was outwardly healthy up to 3 months of age and the mother did not exhibit any clinical symptoms of hydrallantois. In order to validate these observations, we performed confirmation tests for the genotype and a diuretic loading test using furosemide, which inhibits the transporter activity of the SLC12A1 protein. The results showed that the calf was really homozygous for the risk-allele. In the homozygous calf, administration of furosemide did not alter urinary Na+ or Cl- levels, in contrast to the heterozygote and wild-type calves in which these were significantly increased. These results demonstrate that the SLC12A1 (g.62382825G>A, p.Pro372Leu) is a hypomorphic or loss-of-function mutation and the hydrallantois with this mutation shows incomplete penetrance in Japanese Black cattle.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pregnancy Complications
/
Cattle
/
Cattle Diseases
/
Mutation, Missense
/
Sodium-Potassium-Chloride Symporters
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Diuresis
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Edema
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Allantois
/
Genetic Association Studies
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Solute Carrier Family 12, Member 1
Type of study:
Etiology_studies
/
Risk_factors_studies
Limits:
Animals
/
Pregnancy
Language:
En
Journal:
Anim Sci J
Journal subject:
MEDICINA VETERINARIA
Year:
2017
Document type:
Article
Affiliation country: