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

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

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).


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.
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