OMIA:002241-9823 : Neurofibromatosis, type 1 in Sus scrofa (pig)

Categories: Neoplasm

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 162200 (trait) , 613113 (gene)

Links to MONDO diseases:

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).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002241-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 McLean, D.T., Meudt, J.J., Lopez Rivera, L.D., Schomberg, D.T., Pavelec, D.M., Duellman, T.T., Buehler, D.G., Schwartz, P.B., Graham, M., Lee, L.M., Graff, K.D., Reichert, J.L., Bon-Durant, S.S., Konsitzke, C.M., Ronnekleiv-Kelly, S.M., Shanmuganayagam, D., Rubinstein, C.D. :
Single-cell RNA sequencing of neurofibromas reveals a tumor microenvironment favorable for neural regeneration and immune suppression in a neurofibromatosis type 1 porcine model. Front Oncol 13:1253659, 2023. Pubmed reference: 37817770. DOI: 10.3389/fonc.2023.1253659.
Osum, S.H., Oribamise, E.I., Corbière, S.M.A.S., Taisto, M., Jubenville, T., Coutts, A., Kirstein, M.N., Fisher, J., Moertel, C., Du, M., Bedwell, D., Largaespada, D.A., Watson, A.L. :
Combining nonsense mutation suppression therapy with nonsense-mediated decay inhibition in neurofibromatosis type 1. Mol Ther Nucleic Acids 33:227-239, 2023. Pubmed reference: 37520682. DOI: 10.1016/j.omtn.2023.06.018.
Staedtke, V., Topilko, P., Le, L.Q., Grimes, K., Largaespada, D.A., Cagan, R.L., Steensma, M.R., Stemmer-Rachamimov, A., Blakeley, J.O., Rhodes, S.D., Ly, I., Romo, C.G., Lee, S.Y., Serra, E. :
Existing and developing preclinical models for neurofibromatosis type 1-related cutaneous neurofibromas. J Invest Dermatol , 2023. Pubmed reference: 37330719. DOI: 10.1016/j.jid.2023.01.042.
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:
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