OMIA 002242-9986 : Muscular dystrophy, ANO5-related in Oryctolagus cuniculus
Category: Muscle phene
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).
|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|
|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.|
- Created by Frank Nicholas on 03 Feb 2020