OMIA 001953-9913 : Arthrogryposis, lethal syndrome in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PIGH||phosphatidylinositol glycan anchor biosynthesis class H||Bos taurus||10||NC_037337.1 (79474713..79466239)||PIGH||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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Belgian Blue||Arthrogryposis, lethal syndrome||PIGH||splicing||UMD3.1.1||10||g.79814520C>G||c.211-10C>G||rs451004237||2015||25895751||Variant information gleaned from or confirmed by Table 1 of Â Sharma et al. (2017) Animal Genetics 48(3):369-370|
|2015||Sartelet, A., Li, W., Pailhoux, E., Richard, C., Tamma, N., Karim, L., Fasquelle, C., Druet, T., Coppieters, W., Georges, M., Charlier, C. :|
|Genome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattle. BMC Genomics 16:316, 2015. Pubmed reference: 25895751. DOI: 10.1186/s12864-015-1528-y.|
- Created by Frank Nicholas on 19 Apr 2015
- Changed by Frank Nicholas on 19 Apr 2015