Afg3l2^tm1.1Alfb
Targeted Allele Detail

Summary

• Symbol: Afg3l2^tm1.1Alfb
• Name: AFG3-like AAA ATPase 2; targeted mutation 1.1, Alfredo Brusco
• MGI ID: MGI:6368631
• Synonyms: Afg3l2^M665R
• Gene: Afg3l2 Location: Chr18:67537834-67582242 bp, - strand Genetic Position: Chr18, 39.96 cM
• Alliance: Afg3l2^tm1.1Alfb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:277510
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: Using a recombineering approach, a c.1994T>G point mutation was engineered in exon 16 to change codon 665 from methionine to arginine (p.Met665Arg). The FRT site flanked neomycin resistance gene cassette that was inserted into intron 15, was removed through subsequent flp-mediated recombination. This mutation mimics the p.Met666Arg mutation found in human spinocerebellar ataxia 28 (SCA28) patients. (J:277510)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Afg3l2 Mutation: 69 strains or lines available

References

• Original: J:277510 Mancini C, et al., Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity. Neurobiol Dis. 2019 Apr;124:14-28
• All: 1 reference(s)