|  Help  |  About  |  Contact Us

Allele : Diaph2<em2Kcl> diaphanous related formin 2; endonuclease-mediated mutation 2, King's College of London

Primary Identifier  MGI:7450834 Allele Type  Endonuclease-mediated
Attribute String  Null/knockout Gene  Diaph2
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion,
  • Single point mutation
Quick Links:
 
Quick Links:
 

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

3 Publication categories

Trail: Allele