V301 Embryonic Lethality PNKP

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


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In Landrace pigs, several different mutations are known to lead to embryonic lethality or spontantous abortion. One of these mutations occur in the PNKP (polynucleotide kinase 3′-phosphatase) gene, which is involved in the development of the embryo.

The autosomal recessive mutation analysed in this test in the PNKP gene (aka LA3) is reported to cause embryonic lethality or abortion in Landrace pigs. This mutation leads to a reduction in the number of liveborn offspring in matings between carriers.


Chromosome: 6

Gene: PNKP

Mode of Inheritance: Autosomal Recessive Lethal

Organ: Multiple systems


Year published: 2019

Clinical Features

This disease is lethal to affected embryos, and results in stillborn animals or embryonic death (i.e. spontaneous abortion).


Omia: 2183

Pubmed: 30875370