Primary Identifier | MGI:6285502 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Chchd10 |
Strain of Origin | C57BL/6NJ | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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). |