Chchd10^tm1.1Vpf
Targeted Allele Detail

Summary

• Symbol: Chchd10^tm1.1Vpf
• Name: coiled-coil-helix-coiled-coil-helix domain containing 10; targeted mutation 1.1, Veronique Paquis-Flucklinger
• MGI ID: MGI:6454349
• Synonyms: CHCHD10^S59L
• Gene: Chchd10 Location: Chr10:75768964-75773581 bp, + strand Genetic Position: Chr10, 38.62 cM
• Alliance: Chchd10^tm1.1Vpf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:293836
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A c.164C>T point mutation changes serine codon 55 (TCA) to leucine codon TTA (p.S55L) in exon 3. This mutation is the equivalent of the p.S59L mutation found in some FTD-ALS (frontotemporal dementia-amyotrophic lateral sclerosis) patients. The self-excising loxP site flanked cre gene neomycin resistance gene cassette that was inserted into intron 3 was removed through cre-mediated recombination in male germinal cells. (J:293836)

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 Chchd10 Mutation: 19 strains or lines available

References

• Original: J:293836 Genin EC, et al., Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10(S59L/+) mouse. Acta Neuropathol. 2019 Jul;138(1):123-145
• All: 2 reference(s)