Ucp1^em1Etch
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ucp1^em1Etch
• Name: uncoupling protein 1 (mitochondrial, proton carrier); endonuclease-mediated mutation 1, Edward T Chouchani
• MGI ID: MGI:6888035
• Synonyms: UCP1 C253A
• Gene: Ucp1 Location: Chr8:84016981-84025081 bp, + strand Genetic Position: Chr8, 39.65 cM
• Alliance: Ucp1^em1Etch page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a TGT to GCT change at the redox-regulated residue C254 resulting in a cysteine to alanine substitution at this residue (C254A). This substitution is thought to destabilize the inactive conformation and desensitize UCP1 to activation. (J:321712)

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 Ucp1 Mutation: 50 strains or lines available

References

• Original: J:321712 Mills EL, et al., Cysteine 253 of UCP1 regulates energy expenditure and sex-dependent adipose tissue inflammation. Cell Metab. 2022 Jan 4;34(1):140-157.e8
• All: 1 reference(s)