OMIA 002552-9940 : Pancreatic agenesis, PDX1-related in Ovis aries

In other species: pig

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600733 (gene) , 125853 (trait) , 606392 (trait) , 260370 (trait)

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).

Associated gene:

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


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.

Edit History

  • Created by Imke Tammen2 on 31 May 2022
  • Changed by Imke Tammen2 on 31 May 2022