Slc25a4^tm1.1Xjc
Targeted Allele Detail

Summary

• Symbol: Slc25a4^tm1.1Xjc
• Name: solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4; targeted mutation 1.1, Xin Jie Chen
• MGI ID: MGI:7518410
• Synonyms: Ant1^A114P,A123D
• Gene: Slc25a4 Location: Chr8:46660205-46664099 bp, - strand Genetic Position: Chr8, 26.22 cM
• Alliance: Slc25a4^tm1.1Xjc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:338762
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129 x C57BL/6J

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion
• Mutation details: A loxP site was inserted into intron 1, an FRT site flanked neomycin resistance gene cassette, a second loxP site and a mini-gene (containing the last 254 bp of intron 1 sequence (including the splice acceptor), exon 2 with p.A114P and p.A123D mutations, exons 3 and 4, and 70 bp of downstream sequence) were inserted downstream of the gene. The neo cassette was removed through subsequent Flp-mediated recombination. This allele only expresses the mini-gene encoding the mutant peptide after Cre-mediated deletion of endogenous exons 2-4. The mutations interfere with the ability of the encoded peptide to cross mitochondrial membranes. (J:338762)
• Inheritance: Codominant

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 Slc25a4 Mutation: 15 strains or lines available

References

• Original: J:338762 Coyne LP, et al., Mitochondrial protein import clogging as a mechanism of disease. Elife. 2023 May 2;12
• All: 1 reference(s)