OMIA:003089-9483 : Neurodevelopmental disorder, SETD1A-related in Callithrix jacchus (white-tufted-ear marmoset) |
Categories: Nervous system phene , Behaviour / neurological phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611052 (gene) , 618832 (trait) , 619056 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Species summary: Wei et al. (2026) "established a genetically engineered common marmoset (Callithrix jacchus) lineage carrying a frameshift mutation in SETD1A ... and confirmed germline transmission of the mutant allele. In a comparison between fibroblasts derived from one SETD1A mutant and one wild-type marmoset, the mutant showed a lower SETD1A protein level, modest differences in H3K4me3 deposition, and broader differences in gene expression profiles." This study involves gene edited or genetically modified organisms (GMO).
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SETD1A | SET domain containing 1A, histone lysine methyltransferase | Callithrix jacchus | 12 | NC_133513.1 (30486695..30513418) | SETD1A | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1947 | Neurodevelopmental disorder | SETD1A | duplication | frameshift | Genome-editing (CRISPR-Cas9) | Not currently evaluated | calJac240_pri | 12 | NC_133513.1:g. 30494063dup | XM_035267447.3:c.988dup | XP_035123338.2:p.(T330Nfs*31) | published as c.988_989insA; chnaged to dupplication in accordance with HGVS recommendations | 2026 | 42689854 |
* 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:003089-9483: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Wei, Z., Nakao, H., Hiraoka, Y., Harbers, M., Abe, Y., Goto, M., Tamano, M., Saeki, M., Kishi, Y., Aiba, A. : |
| Establishment of a common marmoset lineage carrying a frameshift mutation in SETD1A, a schizophrenia risk gene. J Neurochem 170:e70546, 2026. Pubmed reference: 42689854. DOI: 10.1111/jnc.70546. |
Edit History
- Created by Imke Tammen on 06 Oct 2026
- Changed by Imke Tammen on 06 Oct 2026