OMIA 002242-9986 : Muscular dystrophy, ANO5-related in Oryctolagus cuniculus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613319 , 611307

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).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ANO5 anoctamin 5 Oryctolagus cuniculus 1 NC_013669.1 (161256563..161376698) ANO5 Homologene, Ensembl, NCBI gene

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.

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  • Created by Frank Nicholas on 03 Feb 2020