An extra G nucleotide was inserted in exon 13 (ENSMUST00000109790:c.1925dupG) using two sgRNAs (targeting GGCCACCACTGCCATCGGAG and GTGGTAACCTCTCGCCCCTC) and ssODN template with CRISPR/Cas9 technology, resulting in a reading frame shift and premature stop codon shortly thereafter. This mutation is the equivalent of a human p.G643Wfs*12 mutation associated with acute myeloid leukemia (AML). (J:324868)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Endonuclease-mediated
Insertion
--
1
10
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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