OMIA:002796-9541 : Cardiomyopathy, dilated, LMNA-related in Macaca fascicularis (crab-eating macaque) |
In other species: dog
Categories: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 150330 (gene) , 115200 (trait)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description: Luo et al. (2024) used CRISPR-mediated adenine base editing to create a LMNA c.357-2A>G variant in crab-eating macaques as a model for dilated cardiomyopathy in humans caused by the same variant: " The primate model was highly similar to patients with LMD in terms of symptoms, disease progression, histopathology, and electrophysiological and transcriptional features."
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 |
|---|---|---|---|---|---|---|
| LMNA | lamin A/C | Macaca fascicularis | 1 | NC_052255.1 (93563903..93537312) | LMNA | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1672 | Cardiomyopathy, dilated, LMNA-related | LMNA | splicing | Base-editing | MFA1912RKSv2 | 1 | NC_052255.1:g.93546791T>C | XM_045371898.1:c.357-2A>G | 2024 | 38559624 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002796-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Luo, X., Jia, H., Wang, F., Mo, H., Kang, Y., Zhang, N., Zhao, L., Xu, L., Yang, Z., Yang, Q., Chang, Y., Li, S., Bian, N., Hua, X., Cui, H., Cao, Y., Chu, C., Zeng, Y., Chen, X., Chen, Z., Ji, W., Long, C., Song, J., Niu, Y. : |
| Primate model carrying LMNA mutation develops dilated cardiomyopathy. JACC Basic Transl Sci 9:380-395, 2024. Pubmed reference: 38559624. DOI: 10.1016/j.jacbts.2023.11.002. |
Edit History
- Created by Imke Tammen2 on 06 Apr 2024
- Changed by Imke Tammen2 on 06 Apr 2024