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CRISPR/Cas9 technology, using an sgRNA (targeting AGATGATCCTGATTACTCTG) and an ssODN template, generated a 17 bp deletion (CTGTGGTTGAAGATTAC) resulting in a stop codon immediately after the first of the three tyrosines, Y323. While Y323 is preserved, the absence of the amino acids immediately following it is expected to result in a loss of SHIP1 SH2 domain binding. 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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References Literature
Title
PMID
Journal
Year
IF
