OMIA:002386-9544 : OKT4 epitope deficiency in Macaca mulatta
Categories: Cellular phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613949 (trait) , 186940 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: unknown
Key variant known: yes
Year key variant first reported: 2021
Cross-species summary: OKT monoclonal antibodies are widely used for the analysis of human peripheral blood T lymphocytes. OKT4 monoclonal antibodies react with OKT4 epitope of CD4 molecules of T-helper/inducer cells.
Molecular basis: Liu et al. (2021) "reported a case of hereditary deficiency of OKT4 epitope in an inbred Chinese rhesus macaque family. This epitope deficiency is due to cytosine to thymine transition and homozygote at the nucleotide position 793 of CD4 coding sequences, which leads to the replace of arginine at 265th position of CD4 molecule by tryptophan."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CD4||CD4 molecule||Macaca mulatta||11||NC_041764.1 (6953431..6986331)||CD4||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|
|1340||OKT4 epitope deficiency||CD4||missense||Naturally occurring variant||11||c.C793T||p.(A265W)||2021||33893743|
|2021||Liu, B.B., Zhao, M.L., Wang, Y., Hu, Z.F., Zheng, Y.T., Tian, R.R. :|
|Inherited OKT4 epitope deficiency in a Chinese rhesus macaque. J Med Primatol 50:185-188, 2021. Pubmed reference: 33893743 . DOI: 10.1111/jmp.12526.|
- Created by Imke Tammen2 on 14 Aug 2021
- Changed by Imke Tammen2 on 14 Aug 2021