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Site-directed mutagenesis mutated CAATGG into GCCGCC in exon 14, which led to a substitution of Q<597>W<598>/AA. An FRT-flanked neomycin cassette in intron 13 was removed via Flp-mediated recombination. Western blot analysis revealed normal expression levels of encoded protein in washed platelets from mutant mice. Coimmunoprecipitation experiments revealed a ~85% reduction in the association between integrin alphaIIbbeta3 and mutant protein in platelet lysates. (J:227094)
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
