OMIA 000595-9685 : Leukocyte adhesion deficiency, type I in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ITGB2||integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)||Felis catus||C2||NC_018731.3 (1762922..1788480)||ITGB2||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||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|
|Leukocyte adhesion deficiency, type I||ITGB2||ITGB-2 missing exon 2||deletion, gross (>20)||Naturally occurring variant||Felis_catus_8.0||C2||g.1715627_1715650del||Bauer et al. (2017) "24 bp deletion at the exon 2 to intron 2 boundary (c.46_58 + 11del), predicting premature translational termination due to abnormal splicing of exon 1 to exon 3 or 4."||2017||28750142|
|2017||Bauer, T.R., Pratt, S.M., Palena, C.M., Raj, K., Giger, U., Bauer, T.R., Pratt, S.M., Palena, C.M., Raj, K., Giger, U. :|
|Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin β<sub>2</sub> (ITGB2) gene. Vet Clin Pathol 46:391-400, 2017. Pubmed reference: 28750142. DOI: 10.1111/vcp.12526.|
- Created by Frank Nicholas on 04 Aug 2017
- Changed by Frank Nicholas on 04 Aug 2017