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Allele : Mfn2<em3Gwd> mitofusin 2; endonuclease-mediated mutation 3, Gerald W Dorn

Primary Identifier  MGI:7563991 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Mfn2
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated an A to G change resulting in a methionine to valine substitution at amino acid 376 (p.M376V) in exon 12. A synonymous mutation p.S378 (TCC to TCA) was also introduced to prevent the binding and recutting of the sequence by gRNA. This is a Charcot-Marie-Tooth disease type 2A-associated mutation.
  • mutations:
  • Single point mutation
  • synonyms:
  • Mfn2<M376V>,
  • Mfn2<M376V>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories