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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
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
|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
|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.|
- Created by Imke Tammen2 on 12 Sep 2022