Chchd10^em8Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Chchd10^em8Lutzy
• Name: coiled-coil-helix-coiled-coil-helix domain containing 10; endonuclease-mediated mutation 8, Cat Lutz
• MGI ID: MGI:6285502
• Synonyms: CHCHD10^S55L
• Gene: Chchd10 Location: Chr10:75768964-75773581 bp, + strand Genetic Position: Chr10, 38.62 cM
• Alliance: Chchd10^em8Lutzy page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 genome editing is used to substitute the TCA wild type serine codon with a TTA leucine codon (S55L) in exon 2. The mouse S55L mutation is equivalent to the human S59L mutation. Mutations in the human CHCHD10 gene can cause frontotemporal dementia and amyotrophic lateral sclerosis (ALS). (J:272524)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Chchd10 Mutation: 17 strains or lines available

References

• Original: J:272524 Anderson CJ, et al., ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response. Acta Neuropathol. 2019 Mar 14
• All: 3 reference(s)