OMIA:002571-9823 : 5-Hydroxytryptamine deficiency in Sus scrofa (pig)

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 607478 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific name: 5-HT deficiency

Species-specific description: Li et al. (2017) used CRISPR/Cas9 technology to create 10 TPH2 targeted piglets. "These Tph2 KO piglets were viable and appeared normal at the birth. However, their central 5-HT levels were dramatically reduced, and their survival and growth rates were impaired before weaning."

This study involves genetically modified organisms (GMO).

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

Breed: Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TPH2 tryptophan hydroxylase 2 Sus scrofa 5 NC_010447.5 (35917159..36016981) TPH2 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002571-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2017 Li, Z., Yang, H.Y., Wang, Y., Zhang, M.L., Liu, X.R., Xiong, Q., Zhang, L.N., Jin, Y., Mou, L.S., Liu, Y., Li, R.F., Rao, Y., Dai, Y.F. :
Generation of tryptophan hydroxylase 2 gene knockout pigs by CRISPR/Cas9-mediated gene targeting. J Biomed Res 31:445-452, 2017. Pubmed reference: 28866660. DOI: 10.7555/JBR.31.20170026.

Edit History

  • Created by Imke Tammen2 on 12 Sep 2022