The allele contained nucleotide substitution(s) that result(s) in the amino acid substitution of alanine for aspartic acid at position 1268 (D1268A). This mutation inactivates the kinase. Heterozygous mutant mice show normal mRNA levels in megakaryocytes and normal protein expression in platelets relative to wild-type controls. In vitro platelet lipid kinase activity is reduced by 50% relative to wild-type controls. (J:226344)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Nucleotide substitutions
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1
1
2

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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