OMIA:002242-9986 : Muscular dystrophy, ANO5-related in Oryctolagus cuniculus (rabbit) |
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613319 (trait) , 611307 (trait) , 608662 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific description: Sui et al. (2018) "engineered mutant ANO5 rabbits via co-injection of Cas9 mRNA and sgRNA into the zygotes. CRISPR-mediated small indels in the exon 12 and/or 13 in the mutant rabbits lead to the development of typical signs of muscular dystrophy with increased serum creatine kinase (CK), muscle necrosis, regeneration, fatty replacement and fibrosis." These animals are genetically-modifeed 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 |
|---|---|---|---|---|---|---|
| ANO5 | anoctamin 5 | Oryctolagus cuniculus | 1 | NC_067374.1 (175072097..175192661) | ANO5 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002242-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2018 | Sui, T., Xu, L., Lau, Y.S., Liu, D., Liu, T., Gao, Y., Lai, L., Han, R., Li, Z. : |
| Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations. Cell Death Dis 9:609, 2018. Pubmed reference: 29789544. DOI: 10.1038/s41419-018-0674-y. |
Edit History
- Created by Frank Nicholas on 03 Feb 2020
- Changed by Imke Tammen2 on 18 Dec 2023