Diaph2^em1Kcl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Diaph2^em1Kcl
• Name: diaphanous related formin 2; endonuclease-mediated mutation 1, King's College of London
• MGI ID: MGI:7450832
• Synonyms: Diaph2^em3Kcl
• Gene: Diaph2 Location: ChrX:128650491-129366583 bp, + strand Genetic Position: ChrX, 52.36 cM
• Alliance: Diaph2^em1Kcl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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). (J:332881)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Diaph2 Mutation: 56 strains or lines available

References

• Original: J:332881 Chiereghin C, et al., In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear. PLoS One. 2023;18(1):e0273586
• All: 1 reference(s)