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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

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: 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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). 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