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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Intragenic deletion, Single point
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1
1
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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