OMIA 002210-9823 : Hypothyroidism, congenital, DUOX2-related in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DUOX2||dual oxidase 2||Sus scrofa||1||NC_010443.5 (126620468..126641406)||DUOX2||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|1115||Bama miniature||Congenital hypothyroidosis||DUOX2||missense||Naturally occurring variant||Sscrofa11.1||1||g.126625620A>G||c.1226A>G||p.(D409G)||ENU mutagenesis was used to create these pigs, the mutation is located within an exonic splicing enhancer motif and causes aberrant splicing of DUOX2 transcripts (Cao et al., 2019)||2019||30651277|
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.
|2019||Cao, C., Zhang, Y., Jia, Q., Wang, X., Zheng, Q., Zhang, H., Song, R., Li, Y., Luo, A., Hong, Q., Qin, G., Yao, J., Zhang, N., Wang, Y., Wang, H., Zhou, Q., Zhao, J. :|
|An exonic splicing enhancer mutation in <i>DUOX2</i> causes aberrant alternative splicing and severe congenital hypothyroidism in Bama pigs. Dis Model Mech 12:, 2019. Pubmed reference: 30651277. DOI: 10.1242/dmm.036616.|
|2017||Hai, T., Cao, C., Shang, H., Guo, W., Mu, Y., Yang, S., Zhang, Y., Zheng, Q., Zhang, T., Wang, X., Liu, Y., Kong, Q., Li, K., Wang, D., Qi, M., Hong, Q., Zhang, R., Wang, X., Jia, Q., Wang, X., Qin, G., Li, Y., Luo, A., Jin, W., Yao, J., Huang, J., Zhang, H., Li, M., Xie, X., Zheng, X., Guo, K., Wang, Q., Zhang, S., Li, L., Xie, F., Zhang, Y., Weng, X., Yin, Z., Hu, K., Cong, Y., Zheng, P., Zou, H., Xin, L., Xia, J., Ruan, J., Li, H., Zhao, W., Yuan, J., Liu, Z., Gu, W., Li, M., Wang, Y., Wang, H., Yang, S., Liu, Z., Wei, H., Zhao, J., Zhou, Q., Meng, A. :|
|Pilot study of large-scale production of mutant pigs by ENU mutagenesis. Elife 6:e26248, 2017. Pubmed reference: 28639938. DOI: 10.7554/eLife.26248.|
- Created by Frank Nicholas on 20 Sep 2019
- Changed by Frank Nicholas on 20 Sep 2019
- Changed by Frank Nicholas on 21 Sep 2019
- Changed by Imke Tammen2 on 23 Feb 2021