OMIA 002297-9913 : Tetradysmelia in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RSPO2||R-spondin 2||Bos taurus||14||NC_037341.1 (56384062..56556667)||RSPO2||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|
|1269||Holstein Friesian||Tetradysmelia||RSPO2||delins, gross (>20)||Naturally occurring variant||ARS-UCD1.2||14||g.56451029_56501201delinsTGACAA||a 50-kb deletion spanning three exons of the R-spondin 2 (RSPO2) gene||2020||33176673|
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.
|2020||Becker, D., Weikard, R., Schulze, C., Wohlsein, P., Kühn, C. :|
|A 50-kb deletion disrupting the RSPO2 gene is associated with tetradysmelia in Holstein Friesian cattle. Genet Sel Evol 52:68, 2020. Pubmed reference: 33176673. DOI: 10.1186/s12711-020-00586-y.|
|2005||Kühn, C., Weikard, R., Laurent, P., Goldammer, T. :|
|Assignment of the fibroblast growth factor 10 (FGF10) gene to bovine chromosome 20q16-->q17 by fluorescence in situ hybridization and somatic cell panel analysis. Cytogenet Genome Res 109:533, 2005. Pubmed reference: 15906471.|
|2002||Kühn, C., Weikard, R., Panicke, L., Schwerin, M. :|
|Fibroblast growth factor 10: a potential candidate gene for bovine developmental defect Tetradysmelia? Proceedings of the 7th World Congress on Genetics Applied to Livestock Production, Montpellier, France :, 2002.|
|1999||Kühn, C., Weikard, R., Panicke, L., Schwerin, M. :|
|Genetic variation within the EN1 gene is not responsible for inherited defect "Tetradysmelia" in cattle. Schriftenreihe / FBN, Forschungsinstitut für die Biologie landwirtschaftlicher Nutztiere: International Symposium on Candidate Genes for Animal Health; 25–27 August 1999; Rostock 12:64, 1999.|
|1998||Kühn, C., Weikard, R., Panicke, L., Schwerin, M. :|
|Genetic investigation of the defect 'Tetra-dysmelia' in Holstein cattle by application of genetic markers. Animal Genetics Supplement 29:35, 1998.|
- Created by Imke Tammen2 on 23 Nov 2020
- Changed by Imke Tammen2 on 23 Nov 2020
- Changed by Imke Tammen2 on 26 Nov 2020