OMIA:002044-9823 : Ataxia telangiectasia in Sus scrofa (pig) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 208900 (trait) , 607585 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Species-specific description: Genetically-modifed organism; GMO
Molecular basis: This disorder was created by Beraldi et al. (2015) via homologous recombination and somatic cell nuclear transfer (SCNT), involving a premature termination stop codon in exon 57 of the ATM gene.
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 |
|---|---|---|---|---|---|---|
| ATM | ATM serine/threonine kinase | Sus scrofa | 9 | NC_010451.4 (36620656..36759555) | ATM | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002044-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2015 | Beraldi, R., Chan, C.H., Rogers, C.S., Kovács, A.D., Meyerholz, D.K., Trantzas, C., Lambertz, A.M., Darbro, B.W., Weber, K.L., White, K.A., Rheeden, R.V., Kruer, M.C., Dacken, B.A., Wang, X.J., Davis, B.T., Rohret, J.A., Struzynski, J.T., Rohret, F.A., Weimer, J.M., Pearce, D.A. : |
| A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease. Hum Mol Genet 24:6473-84, 2015. Pubmed reference: 26374845. DOI: 10.1093/hmg/ddv356. |
Edit History
- Created by Frank Nicholas on 15 Sep 2016
- Changed by Frank Nicholas on 15 Sep 2016
- Changed by Frank Nicholas on 29 Sep 2016
- Changed by Frank Nicholas on 17 Oct 2016
- Changed by Imke Tammen2 on 18 Dec 2023