OMIA 002308-9986 : Cardiomyopathy, X-linked dilated in Oryctolagus cuniculus

Category: Cardiovascular system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 300377 (gene) , 302045 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Key variant known: no

Molecular basis: The affected rabbits described by Liu et al. (2018) are generated by genome editing and are considered genetically-modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DMD dystrophin Oryctolagus cuniculus X NC_067395.1 (19495405..17243300) DMD Homologene, Ensembl, NCBI gene

Reference

2018 Liu, Z., Chen, M., Chen, S., Deng, J., Song, Y., Lai, L., Li, Z. :
Highly efficient RNA-guided base editing in rabbit. Nat Commun 9:2717, 2018. Pubmed reference: 30006570. DOI: 10.1038/s41467-018-05232-2.

Edit History


  • Created by Imke Tammen2 on 26 Jan 2021
  • Changed by Imke Tammen2 on 28 Jan 2021