Ndufs4^fky
Spontaneous Allele Detail

Summary

• Symbol: Ndufs4^fky
• Name: NADH:ubiquinone oxidoreductase core subunit S4; funky
• MGI ID: MGI:4942335
• Gene: Ndufs4 Location: Chr13:114424331-114524630 bp, - strand Genetic Position: Chr13, 64.12 cM, cytoband D2.2
• Alliance: Ndufs4^fky page

Ndufs4^fky/Ndufs4^fky mice have transient hair loss

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6-Dnmt3l^tm1Scot Tg(Ins2-TFRC/OVA)296Wehi

Mutation description

Allele Type: Spontaneous (Null/knockout) Mutation: Insertion Mutation details: The mutation was caused by the spontaneous insertion of a 245-nucleotide B2 short interspersed nuclear element (SINE) within exon 3. This results in a truncated transcript lacking exon 3, which is predicted to cause a frameshift and result in a premature stop codon in exon 4. Western blot analysis confirmed the absence of protein expression in the brain, heart, liver and skeletal muscle. (J:186512) Inheritance: Recessive

The Ndufs4^fky mutation is a B2 SINE insertion into exon 3 of Ndufs4

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Ndufs4 Mutation: 27 strains or lines available

References

• Original: J:186512 Leong DW, et al., Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene. J Biol Chem. 2012 Jun 8;287(24):20652-63
• All: 1 reference(s)