Ndufa1^tm1.1Nay
Targeted Allele Detail

Summary

• Symbol: Ndufa1^tm1.1Nay
• Name: NADH:ubiquinone oxidoreductase subunit A1; targeted mutation 1.1, Nagendra Yadava
• MGI ID: MGI:6140203
• Synonyms: Ndufa1^S55A
• Gene: Ndufa1 Location: ChrX:36451241-36454816 bp, - strand Genetic Position: ChrX, 21.61 cM, cytoband A2
• Alliance: Ndufa1^tm1.1Nay page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:257477
• Parent Cell Line: iTL1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: The targeting vector is designed to substitute an alanine for serine at codon 55 (S55A) by introducing a point mutation (c.163 TCT to GCT). The mutation is located in exon 2. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:257477)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Ndufa1 Mutation: 2 strains or lines available

References

• Original: J:257477 Kim C, et al., An X-chromosome linked mouse model (Ndufa1(S55A)) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases. Neurochem Int. 2017 Oct;109:78-93
• All: 2 reference(s)