OMIA 001737-9793 : Coat colour, white spotting, KIT-related in Equus asinus
Fenn et al. (2017) confirmed the likely causality of the above mutation, concluding "the results of this study enhance the evidence that the previously identified variant is associated with white spotting in donkeys. Because the splice site variant was not observed in the homozygous state, this result also supports the hypothesis that homozygosity for this genetic variant is incompatible with life. The presence of the variant in donkeys of different breeds (Miniature Donkey and Mammoth Jack) suggests that the variant probably arose prior to breed separation"Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog||Equus asinus||-||no genomic information (-..-)||KIT||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.
|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|
|Coat colour, white spotting, due to KIT||KIT||splicing||c.1978+2T>A||2015||25818843|
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.
|2017||Fenn, D.J., Raudsepp, T., Cothran, E.G., Hamilton, N.A., Haase, B. :|
|Validation of a candidate causative mutation for white spotting in donkeys. Anim Genet 48:124-125, 2017. Pubmed reference: 27611565. DOI: 10.1111/age.12494.|
|2015||Haase, B., Rieder, S., Leeb, T. :|
|Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spotting phenotype in the donkey. Anim Genet :, 2015. Pubmed reference: 25818843. DOI: 10.1111/age.12282.|
- Created by Frank Nicholas on 16 Apr 2015
- Changed by Frank Nicholas on 16 Apr 2015
- Changed by Frank Nicholas on 17 Oct 2016
- Changed by Frank Nicholas on 02 Mar 2017