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.
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|
|1248||Bama miniature||Hypopigmentation (piebald) and deafness||KIT||missense||Naturally occurring variant||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