Afg3l1^tm1.1Arte
Targeted Allele Detail

Summary

• Symbol: Afg3l1^tm1.1Arte
• Name: AFG3-like AAA ATPase 1; targeted mutation 1.1, TaconicArtemis
• MGI ID: MGI:5817724
• Synonyms: Afg3l1^-, L1^-
• Gene: Afg3l1 Location: Chr8:124204642-124230655 bp, + strand Genetic Position: Chr8, 72.1 cM
• Alliance: Afg3l1^tm1.1Arte page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:237410
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: An FRT-flanked neo cassette with a 5' loxP site was inserted upstream of exon 2. An additional loxP site was inserted downstream of exon 3. Cre mediated recombination removed the FRT-flanked neo cassette and exons 2 and 3. RT-PCR analysis of liver tissue indicated residual mRNAs after splicing from exon 1 to either exon 4 or exon 5. While exon 1-4 splicing gives rise to an out-of-frame transcript, splicing from exon 1 to 5 leads to an in-frame transcript potentially encoding a shorter protein that is devoid of large part of the mitochondrial targeting sequence. However, immunoblotting of liver mitochondria revealed no mature protein in homozygous mutant mice. Blue-native PAGE showed lack of assembled protein in high-molecular weight m-AAA complexes, confirming that this is a knock-out allele. (J:237410)

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 Afg3l1 Mutation: 35 strains or lines available

References

• Original: J:237410 Wang S, et al., The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying. PLoS Genet. 2016 Dec;12(12):e1006463
• All: 3 reference(s)