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Three amino acid substitutions, an alanine for serine at amino acid 330 (TCC to GCA), a tyrosine for serine at amino acid 328 (TCC to TAC), and an alanine for serine at amino acid 325 (AGC to GCA), at sites phosphorylated by casein kinase 1, were introduced into exon II and a floxed PGK-Neo-Stop cassette was inserted upstream of exon II. Western blot analysis of whole heart lysates showed that the protein expression level is reduced by nearly 30%. (J:253159)
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
