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
Disease-related: 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 |
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 | 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]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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 226: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