OMIA 001697-9913 : Haplotype with homozygous deficiency JH1 in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CWC15||CWC15 spliceosome-associated protein||Bos taurus||15||NC_037342.1 (15447187..15456214)||CWC15||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|
|287||Jersey||Abortion due to haplotype JH1||CWC15||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||15||g.15449431C>T||c.163C>T||p.(R55*)||UMD3.1 position is g.15707169C>T, cDNA and protein positions based on XM_005215764.2||rs1115118696||rs1115118696||2013||23349982||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170). 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.
|2016||Cole, J.B., Null, D.J., VanRaden, P.M. :|
|Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility. J Dairy Sci 99:7274-88, 2016. Pubmed reference: 27394947. DOI: 10.3168/jds.2015-10777.|
|2015||Zhang, Y., Guo, G., Huang, H., Lu, L., Wang, L., Fang, L., Liu, L., Wang, Y., Zhang, S. :|
|Screening for JH1 genetic defect carriers in Jersey cattle by a polymerase chain reaction and restriction fragment length polymorphism assay. J Vet Diagn Invest 27:596-9, 2015. Pubmed reference: 26179100. DOI: 10.1177/1040638715589362.|
|2013||Sonstegard, T.S., Cole, J.B., Vanraden, P.M., Van Tassell, C.P., Null, D.J., Schroeder, S.G., Bickhart, D., McClure, M.C. :|
|Identification of a Nonsense Mutation in CWC15 Associated with Decreased Reproductive Efficiency in Jersey Cattle. PLoS One 8:e54872, 2013. Pubmed reference: 23349982. DOI: 10.1371/journal.pone.0054872.|
|2012||Sonstegard, T.S., VanRaden, P.M., Van Tassell, C.P., Adams, H.A., Lewin, H.A. :|
|Lethal haplotypes in dairy cattle: What lies beneath? Proceedings of the 33rd Conference of the International Society of Animal Genetics :abstract S0118, 2012.|
|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 01 Jul 2012
- Changed by Frank Nicholas on 01 Jul 2012
- Changed by Frank Nicholas on 02 Feb 2013
- Changed by Frank Nicholas on 12 Jun 2013
- Changed by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 08 Aug 2017
- Changed by Frank Nicholas on 10 Aug 2020