R330 Deficiency of Uridine Monophosphate Synthase (DUMPS)

R330 Categories: ,

 39,95 ex. VAT
 48,34 inc. VAT

Breed:  Holstein
Sample material:  Blood EDTA, Blood Heparin, Hair, Semen, Tissue

10

working days

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Deficiency of Uridine Monophosphate Synthase (DUMPS) is a metabolic disease that results in the spontaneous abortion of affected calves in utero. The disorder is found primarily in the Holstein, and is caused by a recessive mutation to the UMPS gene.

Specifications

Chromosome: 1

Gene: UMPS

Mode of Inheritance: Autosomal Recessive

Also known as: DUMPS, HHD

Organ: Multiple systems

Species:Cattle

Year published: 1993

Clinical Features

Affected embryos are unable to produce an essential enzyme and die within approximately 40 days after fertilization, causing spontaneous abortion of the pregnancy. Carrier cattle appear normal and have no symptoms, but do have increased levels of orotic acid in their blood and tissue.

References

Omia: 262

Pubmed: 8486364