OMIA:001342-9823 : Mucopolysaccharidosis IIIB in Sus scrofa (pig)

In other species: emu , dog , taurine cattle

Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 252920 (trait) , 609701 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Also known as Sanfilippo syndrome type B

Species-specific description: This disorder in pigs is due to the creation of a loss-of-function allele at the NAGLU locus by transgenesis. It is therefore a genetically modified organism (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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001342-9823: 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.

2018 Yang, Q., Zhao, X., Xing, Y., Jiang, C., Jiang, K., Xu, P., Liu, W., Ren, J., Huang, L. :
A model of mucopolysaccharidosis type IIIB in pigs. Biol Open 7, 2018. Pubmed reference: 30257828. DOI: 10.1242/bio.035386.
2016 Zhao, X., Yang, Q., Zhao, K., Jiang, C., Ren, D., Xu, P., He, X., Liao, R., Jiang, K., Ma, J., Xiao, S., Ren, J., Xing, Y. :
Production of transgenic pigs with an introduced missense mutation of the bone morphogenetic protein receptor type IB gene related to prolificacy. Asian-Australas J Anim Sci 29:925-37, 2016. Pubmed reference: 26954151. DOI: 10.5713/ajas.15.0505.

Edit History

  • Created by Frank Nicholas on 30 Mar 2019
  • Changed by Imke Tammen2 on 18 Dec 2023