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It is a single A-to-G substitution located in exon 2 that resulted in a translational stop at amino acid 54 in the N-terminal pleckstrin homology domain of the gene. Absence of protein product was confirmed by Western blot analysis of newborn heart tissue lysates in homozygous mice. (J:143529)
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
