OMIA:002772-9544 : Frontotemporal dementia, MAPT-related in Macaca mulatta (Rhesus monkey)

In other species: crab-eating macaque

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 157140 (gene) , 600274 (trait)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2026

Molecular basis: Colwell et al. (2026) report "a family of rhesus carrying the microtubule-associated protein tau (MAPT) R406W mutation linked to frontotemporal dementia (FTD)."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MAPT microtubule associated protein tau Macaca mulatta 16 NC_133421.1 (70797357..70929528) MAPT 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 Variant Type Variant Effect Source of Genetic Variant AVCG Pathogenicity Classification* Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1939 Frontotemporal dementia MAPT substitution missense Naturally occurring variant Not currently evaluated Mmul_10 16 NC_041769.1:g.57812530C>T XM_015119954.2:c.1216C>T XP_014975440.1:p.(R406W) 2026 42597777

* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:002772-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2026 Colwell, J.C., Maufort, J.P., Williams, K.M., Makulec, A.T., Fiorentino, M.V., Metzger, J.M., Simmons, H.A., Basu, P., Malicki, K.B., Karch, C.M., Marsh, J.A., Emborg, M.E., Schmidt, J.K. :
Replicable generation and stable maintenance of rhesus macaque iPSCs for in vitro modeling of genetic frontotemporal dementia. Front Cell Dev Biol 14:1833030, 2026. Pubmed reference: 42597777. DOI: 10.3389/fcell.2026.1833030.

Edit History


  • Created by Imke Tammen on 04 Oct 2026
  • Changed by Imke Tammen on 04 Oct 2026