Sco1^em1Scly
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sco1^em1Scly
• Name: SCO1 cytochrome c oxidase assembly protein; endonuclease-mediated mutation 1, Scot C Leary
• MGI ID: MGI:7284064
• Synonyms: Sco1^G115S
• Gene: Sco1 Location: Chr11:66943496-66957896 bp, + strand Genetic Position: Chr11, 40.59 cM
• Alliance: Sco1^em1Scly page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Glycine codon 115 (GGG) was targeted for change to serine (AGC) (p.G115S) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation mimics the p.G132S mutation found in a SCO1 pedigree presenting with combined COX and copper deficiency. (J:252376)

Expression

In Mice Carrying this Mutation:

7 assay results

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 Sco1 Mutation: 19 strains or lines available

References

• Original: J:252376 Baker ZN, et al., The mitochondrial metallochaperone SCO1 maintains CTR1 at the plasma membrane to preserve copper homeostasis in the murine heart. Hum Mol Genet. 2017 Dec 1;26(23):4617-4628
• All: 2 reference(s)