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Allele : Chchd10<em8Lutzy> coiled-coil-helix-coiled-coil-helix domain containing 10; endonuclease-mediated mutation 8, Cat Lutz

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).
  • mutations:
  • Single point mutation
  • synonyms:
  • CHCHD10<S55L>,
  • CHCHD10<S55L>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele