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 |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
937 | Great Dane | Ichthyosis, SLC27A4-related | SLC27A4 | splicing | Naturally occurring variant | CanFam3.1 | 9 | g.55168916C>T | c.1250G>A | XM_548438.6; XP_548438.3; cDNA sequencing confirmed that a "new acceptor site is created by the A-allele ... that results in a shorter RNA product. ... affected dogs show aberrantly spliced transcript with an in-frame loss of the first 54 bp of exon 8" (Metzger et al., 2015) | 2015 | 26506231 | Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste. |
References
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.
2021 | Mauldin, E.A., Elias, P.M. : | |
Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol 32:567-e154, 2021. Pubmed reference: 34796560. DOI: 10.1111/vde.13033. | ||
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. |
Edit History
- Created by Tosso Leeb on 23 Dec 2015
- Changed by Tosso Leeb on 23 Dec 2015
- Changed by Frank Nicholas on 22 Apr 2016