OMIA:000628-9823 : Marfan syndrome in Sus scrofa (pig)

In other species: taurine cattle , rabbit

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 154700 (trait) , 134797 (gene) , 604308 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Species-specific description: Umeyama et al. (2016) "describe the generation of heterozygous fibrillin-1 (FBN1) mutant cloned pigs (+/Glu433AsnfsX98) using genome editing and somatic cell nuclear transfer technologies. The FBN1 mutant pigs exhibited phenotypes resembling those of humans with [Marfan syndrome] MFS, such as scoliosis, pectus excavatum, delayed mineralization of the epiphysis and disrupted structure of elastic fibres of the aortic medial tissue." This phene includes references to studies involving genetically modified organisms (GMO).

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FBN1 fibrillin 1 Sus scrofa 1 NC_010443.5 (123102011..123359649) FBN1 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Year Published PubMed ID(s) Acknowledgements
1402 Marfan syndrome FBN1 deletion, small (<=20) Genome-editing (ZFN) Sscrofa11.1 1 g.123246159del p.(E433Nfs98*) 2016 27074716

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000628-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Summers, K.M. :
Genetic models of fibrillinopathies. Genetics :iyad189, 2023. Pubmed reference: 37972149. DOI: 10.1093/genetics/iyad189.
2022 Jack, N., Muto, T., Iemitsu, K., Watanabe, T., Umeyama, K., Ohgane, J., Nagashima, H. :
Genetically engineered animal models for Marfan syndrome: challenges associated with the generation of pig models for diseases caused by haploinsufficiency. J Reprod Dev 68:233-237, 2022. Pubmed reference: 35598970. DOI: 10.1262/jrd.2022-027.
2021 Tanihara, F., Hirata, M., Otoi, T. :
Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025.
2016 Umeyama, K., Watanabe, K., Watanabe, M., Horiuchi, K., Nakano, K., Kitashiro, M., Matsunari, H., Kimura, T., Arima, Y., Sampetrean, O., Nagaya, M., Saito, M., Saya, H., Kosaki, K., Nagashima, H., Matsumoto, M. :
Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts. Sci Rep 6:24413, 2016. Pubmed reference: 27074716. DOI: 10.1038/srep24413.

Edit History

  • Created by Imke Tammen2 on 26 Dec 2021
  • Changed by Imke Tammen2 on 26 Dec 2021
  • Changed by Imke Tammen2 on 10 Dec 2023