OMIA 002386-9544 : OKT4 epitope deficiency in Macaca mulatta

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613949 (trait) , 186940 (gene)

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 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."

Associated gene:

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

Variants

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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

Reference


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 :, 2021. Pubmed reference: 33893743. DOI: 10.1111/jmp.12526.

Edit History


  • Created by Imke Tammen2 on 14 Aug 2021
  • Changed by Imke Tammen2 on 14 Aug 2021