OMIA 001973-9615 : Ichthyosis, SLC27A4-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC27A4||solute carrier family 27 (fatty acid transporter), member 4||Canis lupus familiaris||9||NC_051813.1 (56099730..56084580)||SLC27A4||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|
|Great Dane||Ichthyosis, SLC27A4-related||SLC27A4||splicing||CanFam3.1||9||g.8684G>A||c.1250G>A||2015||26506231|
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.
|2016||Hoffmann, A., Metzger, J., Wöhlke, A., Peters, M., Junginger, J., Mischke, R., Distl, O., Hewicker-Trautwein, M. :|
|Congenital Ichthyosis in 14 Great Dane Puppies With a New Presentation. Vet Pathol 53:614-20, 2016. Pubmed reference: 26242581. DOI: 10.1177/0300985815595516.|
|2015||Metzger, J., Wöhlke, A., Mischke, R., Hoffmann, A., Hewicker-Trautwein, M., Küch, E.M., Naim, H.Y., Distl, O. :|
|A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis. PLoS One 10:e0141514, 2015. Pubmed reference: 26506231. DOI: 10.1371/journal.pone.0141514.|
- Created by Tosso Leeb on 23 Dec 2015
- Changed by Tosso Leeb on 23 Dec 2015
- Changed by Frank Nicholas on 22 Apr 2016