OMIA:002432-9823 : Neuronal ceroid lipofuscinosis, 3 in Sus scrofa (pig) |
In other species: taurine cattle
Categories: Lysosomal storage disease , Vision / eye phene , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607042 (gene) , 204200 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Cross-species summary: One of several variants of neuronal ceroid lipofuscinosis (NCL) or Batten disease: CLN3; NCL3
Species-specific description: This phene includes references to studies involving 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 |
|---|---|---|---|---|---|---|
| CLN3 | CLN3 lysosomal/endosomal transmembrane protein, battenin | Sus scrofa | 3 | NC_010445.4 (18433564..18450296) | CLN3 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002432-9823: 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.
| 2023 | Swier, V.J., White, K.A., Johnson, T.B., Wang, X., Han, J., Pearce, D.A., Singh, R., Drack, A.V., Pfeifer, W., Rogers, C.S., Brudvig, J.J., Weimer, J.M. : |
| A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes. Dis Model Mech 16:dmm050038, 2023. Pubmed reference: 37305926. DOI: 10.1242/dmm.050038. | |
| 2019 | Johnson, T.B., Sturdevant, D.A., White, K.A., Drack, A.V., Bhattarai, S., Rogers, C., Cooper, J.D., Pearce, D.A., Weimer, J.M. : |
| Characterization of a novel porcine model of CLN3-Batten disease. Mol. Genet. Metab 126:S81, 2019. DOI: doi: 10.1016/j.ymgme.2018.12.198. | |
| 2016 | Beraldi, R., Mdaki, K., Kovács, A.D., Pearce, D.A. : |
| Generation of a juvenile Batten disease porcine model [abstract O15] 15th International Conference on Neuronal Ceroid Lipofuscinosis (Batten Disease), Boston USA :26, 2016. |
Edit History
- Created by Imke Tammen2 on 24 Sep 2021
- Changed by Imke Tammen2 on 18 Dec 2023
- Changed by Imke Tammen2 on 08 Sep 2024