OMIA:000770-9544 : Tremor, X-linked, PLP1-related in Macaca mulatta (Rhesus monkey) |
In other species: dog , pig , rabbit
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 312080 (trait) , 300401 (gene) , 312920 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: X-linked recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2021
Cross-species summary: X-linked hypomyelinating disorder, also called Pelizaeus-Merzbacher disease or hypomyelinating leukodystrophy 1
Species summary: [IT thanks Alexandra Schaening for contributions to this entry in September 2026]
Inheritance: Pedigree analysis was supportive of an X-linked recessive mode of inheritance (Sherman et al., 2021).
Molecular basis: Sherman et al. (2021) identified PLP1: n.682T>C; p.Cys228Arg (omia.variant:1932) as likely pathogenic variant for Pelizaeus-Merzbacher disease in rhesus monkeys.
Clinical features: Sherman et al. (2021) "report three spontaneous cases of male neonatal rhesus macaques with the clinical symptoms of hypomyelinating disease, including intention tremors, progressively worsening motor dysfunction, and nystagmus. ... Due to the severity of disease in each of these cases, animals were euthanized."
Pathology: Sherman et al. (2021) affected "animals demonstrated a paucity of CNS myelination accompanied by reactive astrogliosis, and a lack of PLP1 expression throughout white matter."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PLP1 | proteolipid protein 1 | Macaca mulatta | X | NC_133426.1 (110419836..110435667) | PLP1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1932 | Pelizaeus-Merzbacher disease | PLP1 | substitution | missense | Naturally occurring variant | Not currently evaluated | Mmul_10 | X | NC_041774.1:g.100357390T>C | XP_014983362.1:c.682T>C | XP_014983362.1:p.C228R | Published as chrX:97,544,288 T>C - updated to recent reference genome | 2021 | 34364975 |
* 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:000770-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2021 | Sherman, L.S., Su, W., Johnson, A.L., Peterson, S.M., Cullin, C., Lavinder, T., Ferguson, B., Lewis, A.D. : |
| A novel non-human primate model of Pelizaeus-Merzbacher disease. Neurobiol Dis 158:S0969-9961(21)00214-X:105465, 2021. Pubmed reference: 34364975. DOI: 10.1016/j.nbd.2021.105465. |
Edit History
- Created by Imke Tammen on 29 Sep 2026
- Changed by Imke Tammen on 29 Sep 2026