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CRISPR/Cas9 technology, using an sgRNA (targeting AGATGATCCTGATTACTCTG) and an ssODN template, generated a TAC to TTT change resulting in a tyrosine to phenylalanine substitution at amino acid 323 (p.Y323F) in exon 14. In addition, sequence of BspEI restriction cleavage site was introduced by changing the second T to G in the TCCTGA sequence. Western blot analysis confirmed expression of normal levels of mutant protein in neutrophil lysates. (J:332442)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
