OMIA 001908-9913 : Haplotype with homozygous deficiency HH21 in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NOTCH3||notch 3||Bos taurus||7||NC_037334.1 (7910713..7950469)||NOTCH3||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|
|1441||Nordic Holstein Swiss Holstein||Abortion due to haplotype HH21||NOTCH3||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||7||g.7913460_7913462del||c.129_131del||p.(C44del)||XM_003586246.3; XP_003586294.1; published as c.129_131delTTG||2022||35361830|
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.
|2022||Häfliger, I.M., Spengeler, M., Seefried, F.R., Drögemüller, C. :|
|Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle. Sci Rep 12:5435, 2022. Pubmed reference: 35361830. DOI: 10.1038/s41598-022-09403-6.|
|2013||Sahana, G., Nielsen, U.S., Aamand, G.P., Lund, M.S., Guldbrandtsen, B. :|
|Novel harmful recessive haplotypes identified for fertility traits in nordic holstein cattle. PLoS One 8:e82909, 2013. Pubmed reference: 24376603. DOI: 10.1371/journal.pone.0082909.|
|2011||VanRaden, P.M., Olson, K.M., Null, D.J., Hutchison, J.L. :|
|Harmful recessive effects on fertility detected by absence of homozygous haplotypes. J Dairy Sci 94:6153-61, 2011. Pubmed reference: 22118103. DOI: 10.3168/jds.2011-4624.|
- Created by Frank Nicholas on 12 Feb 2014
- Changed by Frank Nicholas on 12 Feb 2014
- Changed by Frank Nicholas on 15 May 2020
- Changed by Frank Nicholas on 04 Apr 2022