OMIA 001677-9796 : Epidermolysis bullosa, junctionalis, LAMA3-related in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LAMA3||laminin, alpha 3||Equus caballus||8||NC_009151.3 (48410496..48708623)||LAMA3||Homologene, Ensembl, NCBI gene|
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.
|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|
|American Saddlebred||Epidermolysis bullosa, junctionalis, LAMA3-related||LAMA3||deletion, gross (>20)||"6589-bp deletion spanning exons 24-27 . . . in the LAMA3 gene in American Saddlebred foals"||2009||19016681|
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.
|2009||Graves, K.T., Henney, P.J., Ennis, R.B. :|
|Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse. Anim Genet 40:35-41, 2009. Pubmed reference: 19016681. DOI: 10.1111/j.1365-2052.2008.01795.x.|
|2005||Milenkovic, D., Mata, X., Chadi, S., Guérin, G. :|
|cDNA sequence of the horse (Equus caballus) LAMA3 gene and characterization of two intronic SNP markers. DNA Seq 16:468-73, 2005. Pubmed reference: 16287627. DOI: 10.1080/10425170500287674.|
|2003||Lieto, LD., Cothran, EG. :|
|The epitheliogenesis imperfecta locus maps to equine chromosome 8 in American Saddlebred horses. Cytogenet Genome Res 102:207-10, 2003. Pubmed reference: 14970704. DOI: 10.1159/000075750.|
|2002||Lieto, L.D., Swerczek, T.W., Cothran, E.G. :|
|Equine epitheliogenesis imperfecta in two American Saddlebred foals is a lamina lucida defect Veterinary Pathology 39:576-580, 2002. Pubmed reference: 12243468.|
|1976||Crowell, W.A., Stephenson, C., Gosser, H.S. :|
|Epitheliogenesis imperfecta in a foal Journal of the American Veterinary Medical Association 168:56-58, 1976. Pubmed reference: 1245446.|
- Created by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Carrie Finno on 11 Dec 2013