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CRISPR/Cas9 technology, using an sgRNA (targeting ACTTCTTCCGGAATGCACTG) and an ssODN template, generated a TGG to GCA change resulting in a tryptophan to alanine substitution at amino acid 232 (p.W232A) in exon 10. This change prevents interaction with PEST phosphatases. In addition, sequence of NsiI restriction cleavage site was introduced by changing a C to T in the ATGCAC sequence. Western blot analysis indicated reduced protein levels in neutrophil lysates compared to wild-type protein levels. (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
