OMIA:003080-9544 : Dystroglycanopathy, POMT1-related in Macaca mulatta (Rhesus monkey) |
Categories: Vision / eye phene , Nervous system phene , Muscle phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607423 (gene) , 236670 (trait) , 613155 (trait) , 609308 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Inheritance: Pedigree analysis was suggestive of an autosomal recessive mode of inheritance (Nordlund et al., 2026)
Molecular basis: Nordlund et al. (2026) identified "a single nucleotide variant altering a canonical splice site in the POMT1 gene [in affected rhesus monkeys]. Aberrant splicing was confirmed in affected monkeys ... ."
Clinical features: Nordlund et al. (2026) reported three infant rhesus macaque with severe lissencephaly, microphthalmia, and congenital muscular contracture.
Pathology: Nordlund et al. (2026) "H&E staining demonstrated histological markers consistent with severe α‐dystroglycanopathy."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| POMT1 | protein O-mannosyltransferase 1 | Macaca mulatta | 15 | NC_133420.1 (16018794..15986983) | POMT1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1938 | Dystroglycanopathy, alpha | POMT1 | substitution | splicing | Naturally occurring variant | Not currently evaluated | Mmul_10 | 15 | NC_041768.1:g.8905612T>C | XP_028690539.1:c.1273‐2A>G | 2026 | 42638426 |
* 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:003080-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Nordlund, A., LaMendola, B., Crilly, N.P., Kittle, S., Ferguson, B.M., Lewis, A.D., Wall, J., Peterson, S.M. : |
| A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant. Animal Model Exp Med , 2026. Pubmed reference: 42638426. DOI: 10.1002/ame2.70277. |
Edit History
- Created by Imke Tammen on 03 Oct 2026