Diaph2^em2Kcl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Diaph2^em2Kcl
• Name: diaphanous related formin 2; endonuclease-mediated mutation 2, King's College of London
• MGI ID: MGI:7450834
• Gene: Diaph2 Location: ChrX:128650491-129366583 bp, + strand Genetic Position: ChrX, 52.36 cM
• Alliance: Diaph2^em2Kcl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: A point mutation in exon 8 (NM_172493.2: c.877A>G) was intended to change isoleucine codon 293 (ATT), straddling exons 8 and 9, to valine (GTT) (NP_766081.1:p.I293V), using an sgRNA and ssODN template with CRISPR/Cas9 technology. However, an off-target event also created a 19 bp deletion (TTGCATTGTTGGGGAAGAA) a few bases upstream (NM_172493.2: c.855_873del), resulting in a frameshift and premature stop codon in exon 9, thus changing the effect of the point mutation and creating a knockout allele instead. (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)