Coa8^em1Zev
Endonuclease-mediated Allele Detail

Summary

• Symbol: Coa8^em1Zev
• Name: cytochrome c oxidase assembly factor 8; endonuclease-mediated mutation 1, Massimo Zeviani
• MGI ID: MGI:6355916
• Gene: Coa8 Location: Chr12:111679695-111721487 bp, + strand Genetic Position: Chr12, 61.11 cM, cytoband F2
• Alliance: Coa8^em1Zev page

Mutation origin

• Strain of Origin: FVB/NJ

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The molecular lesion, created using CRISPR/Cas9 technology, is a substitution of an A with a TG doublet in exon 2 (c.164delAinsTG, mRNA sequence GenBank NM_026511), which generates a frameshift resulting in a truncated protein (p.Asp55Valfs*20). Skeletal muscle and liver mRNA levels were reduced to 25% and 50%, respectively. (J:277865)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Coa8 Mutation: 27 strains or lines available

References

• Original: J:277865 Signes A, et al., APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. EMBO Mol Med. 2019 Jan;11(1)
• All: 1 reference(s)