Chchd10^em5Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Chchd10^em5Lutzy
• Name: coiled-coil-helix-coiled-coil-helix domain containing 10; endonuclease-mediated mutation 5, Cathy Lutz
• MGI ID: MGI:6117383
• Synonyms: CHCHD10KO
• Gene: Chchd10 Location: Chr10:75768964-75773581 bp, + strand Genetic Position: Chr10, 38.62 cM
• Alliance: Chchd10^em5Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 endonuclease mediated genome editing was used to introduce a single nucleotide insertion of an A residue within exon 2. This mutation generates a frameshift that results in premature stop codon, creating a knock-out allele. No gene product (protein) is detected by western blot analysis of brain, skeletal muscle and heart tissue from homozygous animals. (J:254726)

Expression

In Structures Affected by this Mutation:

1 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:254726 Burstein SR, et al., In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions. Hum Mol Genet. 2018 Jan 1;27(1):160-177
• All: 1 reference(s)