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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 162200

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: 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).

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

Edit History

  • Created by Frank Nicholas on 03 Feb 2020
  • Changed by Frank Nicholas on 03 Feb 2020