Coq6^em1Shcm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Coq6^em1Shcm
• Name: coenzyme Q6 monooxygenase; endonuclease-mediated mutation 1, Sharon Celeste Morley
• MGI ID: MGI:7861517
• Synonyms: Coq6^DY
• Gene: Coq6 Location: Chr12:84408530-84420570 bp, + strand Genetic Position: Chr12, 39.18 cM
• Alliance: Coq6^em1Shcm page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to T missense mutation resulting in an aspartate to tyrosine substitution at amino acid 346 (p.D316Y). This corresponds to the p.D308Y variant identified in an acute lower respiratory tract infection child cohort in Papua New Guinea. (J:360514)

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 Coq6 Mutation: 29 strains or lines available

References

• Original: J:360514 Walker EC, et al., Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease. Nat Immunol. 2024 Dec;25(12):2247-2258
• All: 1 reference(s)