OMIA 002287-9823 : Hypopigmentation and deafness in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog||Sus scrofa||8||NC_010450.4 (41402334..41492306)||KIT||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||Year Published||PubMed ID(s)||Acknowledgements|
|Bama miniature||Hypopigmentation (piebald) and deafness||KIT||missense||Sscrofa11.1||8||g.41485957T>A||c.2418T>A||p.(D806E)||ENU mutagenesis was used to create these pigs, NM_001044525.1; c.2418T>A; NP_001037990.1; p.(D806E) (Xu et al., 2020)||2020||33042408|
|2020||Xu, C., Ren, W., Zhang, Y., Zheng, F., Zhao, H., Shang, H., Guo, W., Yang, S. :|
|KIT gene mutation causes deafness and hypopigmentation in Bama miniature pigs. Am J Transl Res 12:5095-5107, 2020. Pubmed reference: 33042408.|
- Created by Frank Nicholas on 21 Oct 2020
- Changed by Frank Nicholas on 21 Oct 2020