OMIA:000628-9986 : Marfan syndrome in Oryctolagus cuniculus (rabbit)

In other species: pig , taurine cattle

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

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Species-specific description: Chen et al. (2018) "describe the generation of a rabbit MPL [Marfanoid-progeroid-lipodystrophy] model with C-terminal truncation of fibrillin-1 using a CRISPR/Cas9 system. FBN1 heterozygous (FBN1 Het) rabbits faithfully recapitulated the phenotypes of MFS [Marfan syndrome], including muscle wasting and impaired connective tissue, ocular syndrome and aortic dilation. Moreover, skin symptoms, lipodystrophy, growth retardation and dysglycemia were also seen in these FBN1 Het rabbits ... . " This phene includes references to studies involving gene edited or 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 Oryctolagus cuniculus 17 NC_067390.1 (24752973..25012108) FBN1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000628-9986: 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 :iyad189, 2023. Pubmed reference: 37972149. DOI: 10.1093/genetics/iyad189.
2018 Chen, M., Yao, B., Yang, Q., Deng, J., Song, Y., Sui, T., Zhou, L., Yao, H., Xu, Y., Ouyang, H., Pang, D., Li, Z., Lai, L. :
Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit. Dis Model Mech 11, 2018. Pubmed reference: 29666143. DOI: 10.1242/dmm.031542.

Edit History


  • Created by Imke Tammen2 on 20 Nov 2023
  • Changed by Imke Tammen2 on 20 Nov 2023
  • Changed by Imke Tammen2 on 10 Dec 2023