OMIA 001737-9615 : Coat colour, white spotting, KIT-related in Canis lupus familiaris
Gerding et al. (2013) reported a de novo KIT mutation (a 3-bp deletion [c.1960_1962delCTC (p.Leu654del)] in exon 13 of the KIT gene . . . [which] shortens the tyrosine kinase domain 1 of the KIT protein by one amino acid and hence affects the receptor's functionality with high probability) as the cause of "a spotted Weimaraner with exceptional coat colour patterning exhibiting a white blaze on the head extending to the back, white ventral abdomen, white tips on the extremities and overall lightened colour of the ‘greyish’ pigmented areas."Breed: German Shepherd Dog. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog||Canis lupus familiaris||13||NC_051817.1 (47717855..47799689)||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|
|Coat colour, white spotting, KIT-related||KIT||insertion, small (<=20)||13||"a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2."||2013||23134432|
|Coat colour, white spotting, KIT-related||KIT||deletion, small (<=20)||13||c.1960_1962delCTC||p.(L654del)||2013||23659249|
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.
|2013||Gerding, W.M., Akkad, D.A., Epplen, J.T. :|
|Spotted Weimaraner dog due to de novo KIT mutation. Anim Genet 44:605-6, 2013. Pubmed reference: 23659249. DOI: 10.1111/age.12056.|
|Wong, A.K., Ruhe, A.L., Robertson, K.R., Loew, E.R., Williams, D.C., Neff, M.W. :|
|A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs. Anim Genet 44:305-10, 2013. Pubmed reference: 23134432. DOI: 10.1111/age.12006.|
- Created by Frank Nicholas on 23 Nov 2012
- Changed by Frank Nicholas on 28 Nov 2012
- Changed by Frank Nicholas on 13 May 2013
- Changed by Frank Nicholas on 30 Dec 2013