Phenotype Details
Phene ID
3080
Name
Abortion and stillbirth, MIMT1-related
Phene Name
N/A
OMIA ID
1565
Species ID
9913
Characterised
Yes
Characterised Year
2010
Linked Variants
Variant IDPhenotypeGene IDDeleteriousChromosomeGenomicTranscriptProtein
644Abortion and stillbirth due to mutation in MIMT14586714118N/AN/AN/A
Linked Breeds
BreedBreed IDSpecies IDVBO Term
Ayrshire (Cattle)1059913http://purl.obolibrary.org/obo/VBO_0000120
Molecular Genetics

Flisikowski et al. (2010) described a Finnish Ayrshire bull with an incidence of almost 50% of late abortion/stillbirth in his progeny. A half-sib linkage analysis with the BovineSNP50 BeadChip implicated the maternally imprinted PEG3 domain on chromosome BTA18. Genes in this region are not expressed when inherited from the female parent. Close examination of this region disclosed that this bull was heterozygous for a 110 kb deletion in the MIMT1 gene. All of his offspring will have received a non-functional (maternally imprinted) version of this gene from their dam. The 50% of his offspring that receive the deletion from the bull will therefore have no functional MIMT1 gene. The vast majority of these offspring die in late pregnancy, resulting in late abortion/stillbirth. From a gene-expression study in affected and normal foetuses, Flisikowski et al. (2012) implicated a number of genes, especially NRSP1, which encodes neuropeptide S receptor 1.

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