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.
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|
|570||Coat colour, white spotting, KIT-related||KIT||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||13||g.47144513_47144514insA||c.140_141insA||p.(L48Vfs*10)||NM_001003181.1; NP_001003181.1; "a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2." The variant represents a duplication of an adenine and could also be described as c.140dup.||2013||23134432|
|459||Coat colour, white spotting, KIT-related||KIT||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||13||g.47179174_47179176del||c.1936_1938del||p.(L646del)||NM_001003181.1; NP_001003181.1; published as c.1960_1962delCTC; p.(L654del); coordinates in the table have been updated to a recent reference genome and / or transcript||2013||23659249||Dr. Wanda M. Gerding provided additional sequence information to facilitate identification of the genomic position in CanFam3.1|
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