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

In other species: emu , dog , taurine cattle

Categories: Lysosomal storage disease

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 252920 (trait) , 609701 (gene)

Links to MONDO diseases: No links.

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)

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). 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