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

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 256730 (trait) , 600722 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Year key variant first reported: 2019

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

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1353 Neuronal ceroid lipofuscinosis, 1 PPT1 delins, small (<=20) Genome-editing (CRISPR-Cas9) Oar_rambouillet_v1.0 1 g.15235231_15235231delinsTTA p.(R151X) 2019 31289301

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
  • Changed by Imke Tammen2 on 28 Sep 2021