Ndufaf2^tm1.1Itl
Targeted Allele Detail

Summary

• Symbol: Ndufaf2^tm1.1Itl
• Name: NADH:ubiquinone oxidoreductase complex assembly factor 2; targeted mutation 1.1, inGenious Targeting Laboratory
• MGI ID: MGI:5521199
• Gene: Ndufaf2 Location: Chr13:108189123-108295189 bp, - strand Genetic Position: Chr13, 59.63 cM, cytoband D2.1
• Alliance: Ndufaf2^tm1.1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:201547
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A targeting vector was designed to insert loxP sites around exon 2 and a neo cassette while inserting an inverted exon 2 with multiple stop codons downstream of the floxed sequence. Cre-mediated recombination removed the exon 2 and neo cassette resulting in the placement of the mutant exon 2 in-frame with the remainder of the Ndufaf2 gene. Western blot analysis confirmed the absence of protein expression in skin fibroblasts. (J:201547)

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 Ndufaf2 Mutation: 26 strains or lines available

References

• Original: J:201547 Schlehe JS, et al., The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress. Neurobiol Dis. 2013 Oct;58:57-67
• All: 1 reference(s)