OMIA 001677-9615 : Epidermolysis bullosa, junctionalis, LAMA3-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LAMA3||laminin, alpha 3||Canis lupus familiaris||7||NC_051811.1 (64714403..64463775)||LAMA3||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|
|German pointer||Epidermolysis bullosa, junctionalis, LAMA3||LAMA3||insertion, gross (>20)||"insertion (4818+207ins6.5 kb) of repetitive satellite DNA within intron 35 of the gene (LAMA3)"||2005||15737193|
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.
|2005||Capt, A., Spirito, F., Guaguere, E., Spadafora, A., Ortonne, J.P., Meneguzzi, G. :|
|Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol 124:530-5, 2005. Pubmed reference: 15737193. DOI: 10.1111/j.0022-202X.2004.23584.x.|
|2003||Guaguere, E., Capt, A., Spirito, F., Meneguzzi, G. :|
|Junctional epidermolysis bullosa in the german shorthaired pointer: a spontaneous model for junctional epidermolysis bullosa in man Bull Acad Vet France 157:47-51, 2003.|
|1997||Nagata, M., Iwasaki, T., Masuda, H., Shimizu, H. :|
|Non-lethal junctional epidermolysis bullosa in a dog British Journal of Dermatology 137:445-449, 1997. Pubmed reference: 9349347.|
|Olivry, T., Poujadedelverdier, A., Dunston, S.M., Fine, J.D., Ortonne, J.P. :|
|Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa Veterinary Dermatology 8:203-212, 1997.|
- Created by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Oct 2012