OMIA:001472-9823 : Neuronal ceroid lipofuscinosis, 2 in Sus scrofa (pig) |
In other species: crab-eating macaque , dog
Categories: Lysosomal storage disease , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 204500 (trait) , 607998 (gene) , 609270 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2022
Cross-species summary: One of several variants of neuronal ceroid lipofuscinosis (NCL) or Batten disease: CLN2; NCL2
Species-specific description: Swier et al. (2022) used recombinant AAV-mediated gene targeting to introduce a R208X mutation into the TPP1 gene in Yucatan miniswine to create a porcine model for CLN2 disease in humans. The authors "present comprehensive characterization showing behavioral, pathological, and visual phenotypes that recapitulate those seen in CLN2 patients." This study involves 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
Breed:
Yucatan Miniature, United States of America (Pig) (VBO_0013234).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TPP1 | tripeptidyl peptidase I | Sus scrofa | 9 | NC_010451.4 (3135580..3143408) | TPP1 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1519 | Yucatan Miniature, United States of America (Pig) | Neuronal ceroid lipfuscinosis, 2 (CLN2) | TPP1 | nonsense (stop-gain) | Transgenesis via viral vectors | p.(R208X) | 2022 | 36100791 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001472-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2022 | Swier, V.J., White, K.A., Johnson, T.B., Sieren, J.C., Johnson, H.J., Knoernschild, K., Wang, X., Rohret, F.A., Rogers, C.S., Pearce, D.A., Brudvig, J.J., Weimer, J.M. : |
| A novel porcine model of CLN2 Batten disease that recapitulates patient phenotypes. Neurotherapeutics 19:1905-1919, 2022. Pubmed reference: 36100791. DOI: 10.1007/s13311-022-01296-7. |
Edit History
- Created by Imke Tammen2 on 10 Jan 2023
- Changed by Imke Tammen2 on 10 Jan 2023
- Changed by Imke Tammen2 on 12 Dec 2023