Tg(ATP6*)#aJguy
Transgene Detail

Summary

• Symbol: Tg(ATP6*)#aJguy
• Name: transgene insertion #a, John Guy
• MGI ID: MGI:8286375
• Transgene: Tg(ATP6*)#aJguy Location: unknown Genetic Position: ChrMT, Syntenic
• Alliance: Tg(ATP6*)#aJguy page

Transgene origin

• Strain of Origin: (C57BL/6J x DBA/2J)F2

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence, Reporter)
• Mutation: Insertion
• Mutation details: The mitochondria-targeted self-complementary adeno-associated virus (AAV) transgene vector contained the human mitochondrial heavy strain promoter (HSP) driving mitochondrial expression of a m.8993T>G mutated human mitochondrial ATP6 gene fused with a FLAG epitope and mCherry after the stop codon of the FLAG epitope. This substitution of leucine for arginine at amino acid 156 is found in cases of Leigh syndrome. The pound symbol (#) is used here to denote that no single integration event is specified but instead the lines from multiple founders were pooled. (J:378510)

Disease models

Expression

In Structures Affected by this Mutation:

5 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

References

• Original: J:378510 Yuan H, et al., Amelioration of Leigh syndrome induced by mouse blastocyst complementation with a mutant human mitochondrial ATP synthase 6. Clinical and Translational Discovery. 2026;2(3):e114
• All: 1 reference(s)