OMIA 001678-9913 : Epidermolysis bullosa, junctionalis, LAMC2-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LAMC2||laminin subunit gamma 2||Bos taurus||16||NC_037343.1 (64223593..64291348)||LAMC2||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|
|Hereford||Epidermolysis bullosa, junctionalis, LAMC2||LAMC2||deletion, gross (>20)||"2.4 kb deletion encompassing the first exon of the LAMC2 gene"||2015||25888738|
|2015||Murgiano, L., Wiedemar, N., Jagannathan, V., Isling, L.K., Drögemüller, C., Agerholm, J.S. :|
|Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene. BMC Vet Res 11:23, 2015. Pubmed reference: 25888738. DOI: 10.1186/s12917-015-0334-8.|
- Created by Frank Nicholas on 19 Mar 2015
- Changed by Frank Nicholas on 22 Apr 2015