一种突变的Mybpc3 cDNA在α-MHC启动子的调控下表达。Mybpc3的磷酸化位点(Ser-273, Ser-282, Ser-302)被替换为天冬氨酸,并在构建中加入了myc抗原决定簇。在第34行,大约有35%的序列被constitutively phosphorylated的cMyBP-C AllP+替换(J:117119)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
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1
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8

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

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PMID
Journal
Year
IF
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