OMIA:002552-9940 : Pancreatic agenesis, PDX1-related in Ovis aries (sheep)
In other species: pig
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2017
Cross-species summary: Lack of development of the pancreas
Species-specific name: This phene includes references to studies involving genetically modified organisms (GMO). (This entry was created by Hannah Edgell 31/5/2022)
Species-specific description: Vilarino et al. (2017, 2018) created a sheep model to investigate interspecies organ generation and to create an ovine model to investigate therapeutics for diabetes. The authors reported “the creation of pancreatogenesis-disabled sheep by oocyte microinjection of CRISPR/Cas9 targeting PDX1, a critical gene for pancreas development.” Several fetuses were created. Two fetuses with the bi-allelic 208bp deletion in the PDX1 gene presented with pancreatic agenesis while 4 fetuses with a mono-allelic gene edit appeared to have a normal pancreas.
Inheritance: Sheep were created using CRISPR/CAS9 gene editing. Only sheep with a bi-allelic gene edit developed pancreatic agenesis (Vilarino et al. 2017).
Molecular basis: CRISPR-Cas9 dual sgRNAs microinjection introduced a 208 bp deletion in exon 1 resultin in a PDX1 gene knockout (Vilarino et al. 2017).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PDX1||pancreatic and duodenal homeobox 1||Ovis aries||10||NC_019467.1 (32339308..32335231)||PDX1||Homologene, Ensembl , NCBI gene|
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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|
|1461||Pancreatic agenesis||PDX1||deletion, gross (>20)||Genome-editing (CRISPR-Cas9)||Oar_rambouillet_v1.0||10||g.33940517_33940724del||c.195_403del||XM_027973895.1; 208bp deletion||2017||29234093|
Cite this entry
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||Vilarino, M., Suchy, F.P., Rashid, S.T., Lindsay, H., Reyes, J., McNabb, B.R., van der Meulen, T., Huising, M.O., Nakauchi, H., Ross, P.J. :|
|Mosaicism diminishes the value of pre-implantation embryo biopsies for detecting CRISPR/Cas9 induced mutations in sheep. Transgenic Res 27:525-537, 2018. Pubmed reference: 30284144 . DOI: 10.1007/s11248-018-0094-x.|
|2017||Vilarino, M., Rashid, S.T., Suchy, F.P., McNabb, B.R., van der Meulen, T., Fine, E.J., Ahsan, S.D., Mursaliyev, N., Sebastiano, V., Diab, S.S., Huising, M.O., Nakauchi, H., Ross, P.J. :|
|CRISPR/Cas9 microinjection in oocytes disables pancreas development in sheep. Sci Rep 7:17472, 2017. Pubmed reference: 29234093 . DOI: 10.1038/s41598-017-17805-0.|
- Created by Imke Tammen2 on 31 May 2022
- Changed by Imke Tammen2 on 31 May 2022