OMIA 001952-9823 : Microtia in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HOXA1||homeobox A1||Sus scrofa||18||NC_010460.4 (45477561..45480306)||HOXA1||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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Microtia||HOXA1||delins, small (<=20)||Sscrofa11.1||18||g.45478109delinsTC||c.451delinsTC||p.(L151fs)||2015||26035869||The genomic location on Sscrofa11.1 was determined and the effect was confirmed with Ensembl VEP in the following transcript: XM_003134844.5 by Stephanie Shields (27/05/2020)|
|2015||Qiao, R., He, Y., Pan, B., Xiao, S., Zhang, X., Li, J., Zhang, Z., Hong, Y., Xing, Y., Ren, J. :|
|Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome. Dis Model Mech 8:611-22, 2015. Pubmed reference: 26035869. DOI: 10.1242/dmm.018291.|
- Created by Frank Nicholas on 16 Apr 2015
- Changed by Frank Nicholas on 16 Apr 2015