Cox14^em83Cecad
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cox14^em83Cecad
• Name: cytochrome c oxidase assembly protein 14; endonuclease-mediated mutation 83, CECAD, University of Cologne
• MGI ID: MGI:8246871
• Synonyms: COX14^M19I
• Gene: Cox14 Location: Chr15:99623499-99626017 bp, + strand Genetic Position: Chr15, 56.13 cM
• Alliance: Cox14^em83Cecad page

Mutation origin

• Strain of Origin: C57BL/6NRj

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting of exon 2 introduced a missense point mutation (G88A) resulting in a single amino change from methionine to isoleucine at position 19 (M19I). Western blot analysis revealed a significant reduction in relative COX14 protein amount (as percent of wild-type) in brain, skeletal muscle, and kidney tissue lysates, with a more severe decrease seen in liver tissue from 22-week-old homozygous mutant mice. (J:354134)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	9 anatomical structure(s)

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 Cox14 Mutation: 3 strains or lines available

References

• Original: J:354134 Aich A, et al., Defective mitochondrial COX1 translation due to loss of COX14 function triggers ROS-induced inflammation in mouse liver. Nat Commun. 2024 Aug 12;15(1):6914
• All: 1 reference(s)