Ndufs4^tm1Capt
Targeted Allele Detail

Summary

• Symbol: Ndufs4^tm1Capt
• Name: NADH:ubiquinone oxidoreductase core subunit S4; targeted mutation 1, Carl A Pinkert
• MGI ID: MGI:5464892
• Gene: Ndufs4 Location: Chr13:114424331-114524630 bp, - strand Genetic Position: Chr13, 64.12 cM, cytoband D2.2
• Alliance: Ndufs4^tm1Capt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:192154
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: A point mutant construct with a floxed neo cassette created a 1-base deletion causing a frameshift and premature stop codon in the last exon upstream of a conserved 10 to 15 amino acid C-terminal sequence. Western blot analysis confirmed reduced expression of a truncated protein in heterozygous mice. (J:192154)

Disease models

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 Ndufs4 Mutation: 29 strains or lines available

Notes

ES cell = PC1 (129S6/SvEvTac)

References

• Original: J:192154 Ingraham CA, et al., NDUFS4: creation of a mouse model mimicking a Complex I disorder. Mitochondrion. 2009 Jun;9(3):204-10
• All: 2 reference(s)