OMIA 001948-9913 : Epidermolysis bullosa, junctionalis, ITGB4-related in Bos taurus
Michot et al. (2015) independently mapped the disorder in Charolais and identified the same causal mutation.Breed: Charolais. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ITGB4||integrin subunit beta 4||Bos taurus||19||NC_037346.1 (55872542..55840150)||ITGB4||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.
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|
|684||Charolais||Epidermolysis bullosa, junctionalis, ITGB4||ITGB4||deletion, gross (>20)||Naturally occurring variant||19||"a 4.4 kb deletion involving exons 17 to 22" of the ITGB4 gene||2015||25890340|
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.
|2015||Michot, P., Fantini, O., Braque, R., Allais-Bonnet, A., Saintilan, R., Grohs, C., Barbieri, J., Genestout, L., Danchin-Burge, C., Gourreau, J.M., Boichard, D., Pin, D., Capitan, A. :|
|Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa. Genet Sel Evol 47:37, 2015. Pubmed reference: 25935160. DOI: 10.1186/s12711-015-0110-z.|
|Peters, M., Reber, I., Jagannathan, V., Raddatz, B., Wohlsein, P., Drögemüller, C. :|
|DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle. BMC Vet Res 11:48, 2015. Pubmed reference: 25890340. DOI: 10.1186/s12917-015-0366-0.|
|2004||Guaguere, E,, Berg, K., Degorce-Rubioales, F. , Spadafora, A., Meneguzzi, G. :|
|FC-26 Junctional epidermolysis bullosa in a Charolais calf with deficient expression of integrin α6β4 (abstract) Veterinary Dermatology 15(Suppl. 1):28 only, 2004. DOI: 10.1111/j.1365-3164.2004.411_26.x.|
- Created by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 17 May 2015