OMIA:002886-9823 : Long QT syndrome, CACNA1C-related in Sus scrofa (pig) |
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 114205 (gene) , 601005 (trait)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: Multisystem disorder, also called Timothy syndrome (TS), affecting the heart (severe QT-interval prolongation and life-threatening arrhythmia) and other body systems, including the skeleton (e.g. syndactyly, craniofacial abnormalities), immune deficiencies and neurological dysfunction.
Molecular basis: Porta-Sánchez et al. (2023) "generated a Large White pig model of TS1 [Timothy syndrome 1] (CACNA1CGly406Arg/WT) using CRISPR–Cas9 and somatic cell nuclear transfer (SCNT). ... [The] model fully recapitulated the human disease ... ."
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
Breed:
Large White (Pig) (VBO_0001163).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CACNA1C | calcium voltage-gated channel subunit alpha1 C | Sus scrofa | 5 | NC_010447.5 (69016954..69448428) | CACNA1C | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1737 | Large White (Pig) | Timothy syndrome 1 | CACNA1C | missense | Genome-editing (CRISPR-Cas9) | Sscrofa11.1 | 5 | NC_010447.5:g.69316114G>A | XM_021092981.1:c.1216G>A | XP_020948640.1:p.(G406R) | 2023 | 38665938 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002886-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2024 | Boukens, B.J., Verkerk, A.O., Bezzina, C.R. : |
| Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome. Nat Cardiovasc Res 3:18-20, 2024. Pubmed reference: 39195890. DOI: 10.1038/s44161-023-00408-6. | |
| 2023 | Porta-Sánchez, A., Mazzanti, A., Tarifa, C., Kukavica, D., Trancuccio, A., Mohsin, M., Zanfrini, E., Perota, A., Duchi, R., Hernandez-Lopez, K., Jáuregui-Abularach, M.E., Pergola, V., Fernandez, E., Bongianino, R., Tavazzani, E., Gambelli, P., Memmi, M., Scacchi, S., Pavarino, L.F., Franzone, P.C., Lentini, G., Filgueiras-Rama, D., Galli, C., Santiago, D.J., Priori, S.G. : |
| Unexpected impairment of I Na underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome. Nat Cardiovasc Res 2:1291-1309, 2023. Pubmed reference: 38665938. DOI: 10.1038/s44161-023-00393-w. |
Edit History
- Created by Imke Tammen2 on 05 Sep 2024
- Changed by Imke Tammen2 on 05 Sep 2024