Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Chchd10em5Lutzy
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:	Chchd10em5Lutzy page

Strain of Origin:

C57BL/6J

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	16 strains or lines available

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)