OMIA 001686-9913 : Dwarfism, proportionate, with inflammatory lesions in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RNF11||ring finger protein 11||Bos taurus||3||NC_037330.1 (95059039..95012093)||RNF11||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|
|376||Belgian Blue||Dwarfism, proportionate, with inflammatory lesions||RNF11||splicing||Naturally occurring variant||ARS-UCD1.2||3||g.95015373T>C||c.124-2A>G||NM_001077953.1||rs3423159409||2012||22438830||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)|
|2012||Sartelet, A., Druet, T., Michaux, C., Fasquelle, C., Géron, S., Tamma, N., Zhang, Z., Coppieters, W., Georges, M., Charlier, C. :|
|A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response. PLoS Genet 8:e1002581, 2012. Pubmed reference: 22438830. DOI: 10.1371/journal.pgen.1002581.|
- Created by Frank Nicholas on 24 Jan 2012
- Changed by Frank Nicholas on 25 Jan 2012
- Changed by Frank Nicholas on 11 Jul 2017