OMIA 001504-9940 : Neuronal ceroid lipofuscinosis, 1 in Ovis aries

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 256730

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: CLN1

Species-specific description: This disorder in sheep has been created by CRISPR/Cas9 gene editing. The affected sheep are, therefore, genetically-modified organisms (GMO).

Molecular basis: Eaton et al. (2019): "Three PPT1 homozygote sheep were generated by insertion of a disease-causing PPT1 (R151X) human mutation into the orthologous sheep locus".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LOC100517533 palmitoyl-protein thioesterase 1 Sus scrofa 6 NC_010448.4 (95860858..95840906) LOC100517533 Homologene, Ensembl, NCBI gene

Reference


2019 Eaton, S.L., Proudfoot, C., Lillico, S.G., Skehel, P., Kline, R.A., Hamer, K., Rzechorzek, N.M., Clutton, E., Gregson, R., King, T., O'Neill, C.A., Cooper, J.D., Thompson, G., Whitelaw, C.B., Wishart, T.M. :
CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease). Sci Rep 9:9891, 2019. Pubmed reference: 31289301. DOI: 10.1038/s41598-019-45859-9.

Edit History


  • Created by Frank Nicholas on 23 Sep 2019
  • Changed by Frank Nicholas on 23 Sep 2019