OMIA:002432-9823 : Neuronal ceroid lipofuscinosis, 3 in Sus scrofa (pig)

Categories: Lysosomal storage disease , Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 607042 (gene) , 204200 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Considered a defect: 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: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002432-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 , 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