OMIA 002464-9823 : Cryopyrin-associated periodic syndrome, NLRP3-related in Sus scrofa |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
NLRP3 | NLR family, pyrin domain containing 3 | Sus scrofa | 2 | NC_010444.4 (56977412..56892241) | NLRP3 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1370 | Large White | Cryopyrin-associated periodic syndrome | NLRP3 | missense | Genome editing (CRISPR/Cpf1) | 2 | p.(R259W) | 2020 | 32958688 |
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.
2021 | Li, W., Shi, L., Zhuang, Z., Wu, H., Lian, M., Chen, Y., Li, L., Ge, W., Jin, Q., Zhang, Q., Zhao, Y., Liu, Z., Ouyang, Z., Ye, Y., Li, Y., Wang, H., Liao, Y., Quan, L., Xiao, L., Lai, L., Meng, G., Wang, K. : | |
Correction: Engineered pigs carrying a gain-of-function NLRP3 homozygous mutation can survive to adulthood and accurately recapitulate human systemic spontaneous inflammatory responses. J Immunol 207:2385-2386, 2021. Pubmed reference: 34580110. DOI: 10.4049/jimmunol.2100753. | ||
Tanihara, F., Hirata, M., Otoi, T. : | ||
Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025. | ||
2020 | Li, W., Shi, L., Zhuang, Z., Wu, H., Lian, M., Chen, Y., Li, L., Ge, W., Jin, Q., Zhang, Q., Zhao, Y., Liu, Z., Ouyang, Z., Ye, Y., Li, Y., Wang, H., Liao, Y., Quan, L., Xiao, L., Lai, L., Meng, G., Wang, K. : | |
Engineered pigs carrying a gain-of-function NLRP3 homozygous mutation can survive to adulthood and accurately recapitulate human systemic spontaneous inflammatory responses. J Immunol 205:2532-2544, 2020. Pubmed reference: 32958688. DOI: 10.4049/jimmunol.1901468. | ||
2018 | Wu, H., Liu, Q., Shi, H., Xie, J., Zhang, Q., Ouyang, Z., Li, N., Yang, Y., Liu, Z., Zhao, Y., Lai, C., Ruan, D., Peng, J., Ge, W., Chen, F., Fan, N., Jin, Q., Liang, Y., Lan, T., Yang, X., Wang, X., Lei, Z., Doevendans, P.A., Sluijter, J.P.G., Wang, K., Li, X., Lai, L. : | |
Engineering CRISPR/Cpf1 with tRNA promotes genome editing capability in mammalian systems. Cell Mol Life Sci 75:3593-3607, 2018. Pubmed reference: 29637228. DOI: 10.1007/s00018-018-2810-3. |
Edit History
- Created by Imke Tammen2 on 26 Oct 2021
- Changed by Imke Tammen2 on 26 Oct 2021
- Changed by Imke Tammen2 on 26 Dec 2021