OMIA 001678-9940 : Epidermolysis bullosa, junctionalis, LAMC2-related in Ovis aries
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LAMC2||laminin subunit gamma 2||Ovis aries||12||NC_056065.1 (63664387..63732166)||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.
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|
|507||German Blackheaded Mutton||Epidermolysis bullosa, junctionalis, LAMC2-related||LAMC2||deletion, small (<=20)||Naturally occurring variant||Oar_rambouillet_v1.0||12||g.68856318_68856319del||c.2746_2747del||p.(A928*)||FM872310 c.2746delCA||2011||21573221||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
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.
|2012||Ostmeier, M., Kerkmann, A., Frase, R., Ganter, M., Distl, O., Hewicker-Trautwein, M. :|
|Inherited junctional epidermolysis bullosa (Herlitz type) in German black-headed mutton sheep. J Comp Pathol 146:338-47, 2012. Pubmed reference: 22000950. DOI: 10.1016/j.jcpa.2011.08.008.|
|2011||Mömke, S., Kerkmann, A., Wöhlke, A., Ostmeier, M., Hewicker-Trautwein, M., Ganter, M., Kijas, J., for the International Sheep Genomics Consortium, Distl, O. :|
|A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. PLoS One 6:e18943, 2011. Pubmed reference: 21573221. DOI: 10.1371/journal.pone.0018943.|
|2010||Kerkmann, A., Ganter, M., Frase, R., Ostmeier, M., Hewicker-Trautwein, M., Distl, O. :|
|Epidermolysis bullosa in German black headed mutton sheep. Berl Munch Tierarztl Wochenschr 123:413-21, 2010. Pubmed reference: 21038812.|
|1974||Alley, M.R., O'Hara, P.J., Middelberg, A. :|
|An epidermolysis bullosa of sheep New Zealand Veterinary Journal 22:55-59, 1974. Pubmed reference: 4527651. DOI: 10.1080/00480169.1974.34133.|
- Created by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 17 Aug 2012
- Changed by Frank Nicholas on 25 Nov 2013