OMIA 001864-9615 : Ectodermal dysplasia/skin fragility syndrome in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PKP1||plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)||Canis lupus familiaris||7||NC_051811.1 (1605354..1559536)||PKP1||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|
|417||Chesapeake Bay Retriever Golden Retriever||Ectodermal dysplasia/skin fragility syndrome||PKP1||splicing||Naturally occurring variant||CanFam3.1||7||g.1966531C>G||c.202+1G>C||2012||22384142||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2012||Olivry, T., Linder, K.E., Wang, P., Bizikova, P., Bernstein, J.A., Dunston, S.M., Paps, J.S., Casal, M.L. :|
|Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One 7:e32072, 2012. Pubmed reference: 22384142. DOI: 10.1371/journal.pone.0032072.|
- Created by Frank Nicholas on 24 Jul 2013
- Changed by Frank Nicholas on 24 Jul 2013
- Changed by Frank Nicholas on 25 Jul 2013
- Changed by Tosso Leeb on 23 Dec 2015
- Changed by Frank Nicholas on 13 Jul 2017