OMIA 001985-9913 : Dwarfism, Fleckvieh in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GON4L||gon-4-like (C. elegans)||Bos taurus||3||NC_037330.1 (14949870..15038555)||GON4L||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|
|778||Fleckvieh||Dwarfism, Fleckvieh||GON4L||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||3||g.15024245del||c.4286del||p.(G1430Kfs*66)||rs723240647||rs723240647||2016||27036302||Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 210909: to be consistent with HGVS, FN changed g.15079217delC to g.15079217del. An examination of the information for rs723240647 indicated that c.4285_4287delCCCinsCC should be changed to c.4286del|
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||Schwarzenbacher, H., Wurmser, C., Flisikowski, K., Misurova, L., Jung, S., Langenmayer, M.C., Schnieke, A., Knubben-Schweizer, G., Fries, R., Pausch, H. :|
|A frameshift mutation in GON4L is associated with dwarfism in Fleckvieh cattle bioRxiv preprint first posted online Jan. 15, 2016 :, 2016. DOI: 10.1101/036889.|
|Schwarzenbacher, H., Wurmser, C., Flisikowski, K., Misurova, L., Jung, S., Langenmayer, M.C., Schnieke, A., Knubben-Schweizer, G., Fries, R., Pausch, H. :|
|A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle. Genet Sel Evol 48:25, 2016. Pubmed reference: 27036302. DOI: 10.1186/s12711-016-0207-z.|
|1967||Gottwald, V.W. :|
|Über das Vorkommen von Zwergwuchs in der Nachzucht eines Fleckviehbullen Reprod Domest Anim 2:63-67, 1967.|
- Created by Frank Nicholas on 03 Mar 2016
- Changed by Frank Nicholas on 03 Mar 2016
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- Changed by Frank Nicholas on 11 Apr 2016
- Changed by Imke Tammen2 on 16 Sep 2021