OMIA 001935-9913 : Zinc deficiency-like syndrome in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PLD4||phospholipase D family member 4||Bos taurus||21||NC_037348.1 (69348995..69356043)||PLD4||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|339||Fleckvieh||Zinc deficiency-like syndrome||PLD4||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||21||g.69352995G>A||c.702G>A||p.(W234*)||UMD3.1 position is g.71001232G>A||rs378824791||rs378824791||2014||25052073||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; rsID gleaned from or confirmed by Table 1 of Â Sharma et al. (2017) Animal Genetics 48(3):369-370. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Langenmayer, M.C., Jung, S., Fux, R., Wittlinger, C., Tschoner, T., Majzoub-Altweck, M., Knubben-Schweizer, G., Fries, R., Hermanns, W., Trefz, F.M. :|
|Macrophages in dermal disease progression of phospholipase D4-deficient Fleckvieh calves. Vet Pathol :3009858211062629, 2021. Pubmed reference: 34856834. DOI: 10.1177/03009858211062629.|
|2018||Langenmayer, M.C., Jung, S., Majzoub-Altweck, M., Trefz, F.M., Seifert, C., Knubben-Schweizer, G., Fries, R., Hermanns, W., Gollnick, N.S. :|
|Zinc deficiency-like syndrome in Fleckvieh calves: Clinical and pathological findings and differentiation from bovine hereditary zinc deficiency. J Vet Intern Med 32:853-859, 2018. Pubmed reference: 29424482. DOI: 10.1111/jvim.15040.|
|2014||Jung, S., Pausch, H., Langenmayer, M.C., Schwarzenbacher, H., Majzoub-Altweck, M., Gollnick, N.S., Fries, R. :|
|A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle. BMC Genomics 15:623, 2014. Pubmed reference: 25052073. DOI: 10.1186/1471-2164-15-623.|
- Created by Frank Nicholas on 25 Oct 2014
- Changed by Frank Nicholas on 25 Oct 2014
- Changed by Frank Nicholas on 29 Oct 2014