OMIA 001415-9615 : Hyperkeratosis, epidermolytic in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KRT10||keratin 10, type I||Canis lupus familiaris||9||NC_051813.1 (22656504..22661353)||KRT10||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|
|364||Norfolk Terrier||Hyperkeratosis, epidermolytic||KRT10||splicing||Naturally occurring variant||CanFam3.1||9||g.21866234G>T||c.1125+1G>T||XM_038676544.1; XP_038532472.1; experimentally confirmed splice defect; a single base GT>TT change in the consensus 5'-splice site of intron 5||2005||16029326|
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.
|2005||Barnhart, KF., Credille, KM., Ambrus, A., Dunstan, RW. :|
|Preservation of phenotype in an organotypic cell culture model of a recessive keratinization defect of Norfolk terrier dogs. Exp Dermatol 14:481-90, 2005. Pubmed reference: 15946235. DOI: 10.1111/j.0906-6705.2005.00306.x.|
|Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW. :|
|Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol 153:51-8, 2005. Pubmed reference: 16029326. DOI: 10.1111/j.1365-2133.2005.06735.x.|
|2004||Barnhart, KF., Credille, KM., Ambrus, A., Dunstan, RW. :|
|A heritable keratinization defect of the superficial epidermis in norfolk terriers. J Comp Pathol 130:246-54, 2004. Pubmed reference: 15053927. DOI: 10.1016/j.jcpa.2003.11.003.|
|2000||Mecklenburg, L., Hetzel, U., Ueberschär, S. :|
|Epidermolytic ichthyosis in a dog: clinical, histopathological, immunohistochemical and ultrastructural findings. J Comp Pathol 122:307-11, 2000. Pubmed reference: 10805985. DOI: 10.1053/jcpa.1999.0371.|
- Created by Frank Nicholas on 05 Oct 2005
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 16 Jan 2012
- Changed by Frank Nicholas on 27 Jan 2012
- Changed by Frank Nicholas on 21 Oct 2012