mt-Tl1^m1Jiha
Chemically induced Allele Detail

Summary

• Symbol: mt-Tl1^m1Jiha
• Name: mitochondrially encoded tRNA leucine 1; mutation 1, Jun-Ichi Hayashi
• MGI ID: MGI:7614770
• Synonyms: tRNA^Leu(UUR)2748
• Gene: mt-Tl1 Location: ChrMT:2676-2750 bp, + strand Genetic Position: ChrMT, Syntenic
• Alliance: mt-Tl1^m1Jiha page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:344247
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Chemically induced (ENU) (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: ENU induced an A2748G mutation in the mitochondria of B82 fibrosarcoma cells. These cells were enucleated and fused with TT2F embryonic stem cells to transfer the mutant mitochondria. ES cells carrying 84% mutant mtDNA were used to generate mice. The mutation is homologous to the A3302G mutation found in a human MELAS patient. (J:344247, J:346184)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 mt-Tl1 Mutation: 0 strains or lines available

References

• Original: J:344247 Tani H, et al., Aberrant RNA processing contributes to the pathogenesis of mitochondrial diseases in trans-mitochondrial mouse model carrying mitochondrial tRNALeu(UUR) with a pathogenic A2748G mutation. Nucleic Acids Res. 2022 Aug 24
• All: 2 reference(s)