OMIA 002241-9823 : Neurofibromatosis, type 1 in Sus scrofa |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
162200 (trait)
,
613113 (gene)
Mendelian trait/disorder:
yes
Considered a defect:
yes
Key variant known:
no
Species-specific description:
Spontaneous "Porcine PNSTs [peripheral nerve sheath tumors have been documented rarely but include cutaneous schwannoma, pigmented cutaneous neurofibroma and MPNST [malignant peripheral nerve sheath tumors]." (Osum et al., 2021).
Using "recombinant adeno-associated virus–mediated (rAAV-mediated) gene targeting and somatic cell nuclear transfer (SCNT)", White et al. (2018) created mini pigs with a deletion of exon 42 of the NF1 gene, as a model of NF1 in humans. These animals are genetically-modified organisms (GMO).
Isakson et al. (2018) generated a minipig model of NF1 using TALEN gene editing. These animals are genetically-modified organisms (GMO).
Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| NF1 | neurofibromin 1 | Sus scrofa | 12 | NC_010454.4 (43754205..43487098) | NF1 | Homologene, Ensembl, NCBI gene |
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 | Osum, S.H., Watson, A.L., Largaespada, D.A. : | |
| Spontaneous and engineered large animal models of neurofibromatosis type 1. Int J Mol Sci 22:1954, 2021. Pubmed reference: 33669386. DOI: 10.3390/ijms22041954. | ||
| Rubinstein, C.D., McLean, D.T., Lehman, B.P., Meudt, J.J., Schomberg, D.T., Krentz, K.J., Reichert, J.L., Meyer, M.B., Adams, M., Konsitzke, C.M., Shanmuganayagam, D. : | ||
| Assessment of mosaicism and detection of cryptic alleles in CRISPR/Cas9-Engineered Neurofibromatosis Type 1 and TP53 mutant porcine models reveals overlooked challenges in precision modeling of human diseases. Front Genet 12:721045, 2021. Pubmed reference: 34630515. DOI: 10.3389/fgene.2021.721045. | ||
| 2020 | Swier, V.J., White, K.A., Meyerholz, D.K., Chefdeville, A., Khanna, R., Sieren, J.C., Quelle, D.E., Weimer, J.M. : | |
| Validating indicators of CNS disorders in a swine model of neurological disease. PLoS One 15:e0228222, 2020. Pubmed reference: 32074109. DOI: 10.1371/journal.pone.0228222. | ||
| Uthoff, J., Larson, J., Sato, T.S., Hammond, E., Schroeder, K.E., Rohret, F., Rogers, C.S., Quelle, D.E., Darbro, B.W., Khanna, R., Weimer, J.M., Meyerholz, D.K., Sieren, J.C. : | ||
| Longitudinal phenotype development in a minipig model of neurofibromatosis type 1. Sci Rep 10:5046, 2020. Pubmed reference: 32193437. DOI: 10.1038/s41598-020-61251-4. | ||
| 2019 | Stilwell, J.M., Rissi, D.R. : | |
| Pathology and immunohistochemistry of a malignant nerve sheath tumor in a pig: case report and brief review of the literature. J Vet Diagn Invest 31:122-127, 2019. Pubmed reference: 30565512. DOI: 10.1177/1040638718820949. | ||
| 2018 | Isakson, SH., Rizzardi, AE., Coutts, AW., Carlson, DF., Kirstein, MN., Fisher, J., Vitte, J., Williams, KB., Elizabeth Pluhar, GE., Dahiya, S., Widemann, BC., Dombi, E., Rizvi, T., Ratner, N., Messiaen, L., Stemmer-Rachamimov, AO., Fahrenkrug, SC., Gutmann, DH., Giovannini, M., Moertel, CL., Largaespada, DA., Watson, AL. : | |
| Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1 Commun Biol 1:158, 2018. DOI: https://doi.org/10.1038/s42003-018-0163-y. | ||
| White, K.A., Swier, V.J., Cain, J.T., Kohlmeyer, J.L., Meyerholz, D.K., Tanas, M.R., Uthoff, J., Hammond, E., Li, H., Rohret, F.A., Goeken, A., Chan, C.H., Leidinger, M.R., Umesalma, S., Wallace, M.R., Dodd, R.D., Panzer, K., Tang, A.H., Darbro, B.W., Moutal, A., Cai, S., Li, W., Bellampalli, S.S., Khanna, R., Rogers, C.S., Sieren, J.C., Quelle, D.E., Weimer, J.M. : | ||
| A porcine model of neurofibromatosis type 1 that mimics the human disease. JCI Insight 3:, 2018. Pubmed reference: 29925695. DOI: 10.1172/jci.insight.120402. | ||
| 2017 | Meyerholz, D.K., Ofori-Amanfo, G.K., Leidinger, M.R., Goeken, J.A., Khanna, R., Sieren, J.C., Darbro, B.W., Quelle, D.E., Weimer, J.M. : | |
| Immunohistochemical markers for prospective studies in neurofibromatosis-1 porcine models. J Histochem Cytochem 65:607-618, 2017. Pubmed reference: 28846462. DOI: 10.1369/0022155417729357. | ||
| 1993 | Meat, C., Prefecture, K. : | |
| Cutaneous plexiform schwannoma in a pig. J. Comp. Pathol. 109:231-240, 1993. |
Edit History
- Created by Frank Nicholas on 03 Feb 2020
- Changed by Frank Nicholas on 03 Feb 2020
- Changed by Imke Tammen2 on 12 Apr 2021
- Changed by Imke Tammen2 on 28 Aug 2021
- Changed by Imke Tammen2 on 19 Oct 2021