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Allele : Diaph2<em3Kcl> diaphanous related formin 2; endonuclease-mediated mutation 3, King's College of London

Primary Identifier  MGI:7450832 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Diaph2
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Isoleucine codon 293 (ATT), straddling exons 8 and 9, was changed to valine (GTT) (NM_172493.2: c.877A>G, NP_766081.1:p.I293V) using an sgRNA and ssODN template with CRISPR/Cas9 technology. The mutation mimics the human NM_006729.4:c.868A>G, NP_006720.1:p.I290V missense and potential splice site variant associated with nonsyndromic hearing loss (NSHL).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories