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EN
Exon 75 was replaced with a modified exon 75 in which nucleotide substitutions result in the amino acid substitution of aspartic acid for leucine at position 3591 (L3591D). This mutation eliminates CaM and S100A1 inhibition at diastolic Ca2+ ions only. A self-excising neomycin resistance cassette inserted dowsntream of the modified exon 75 is excised from the final allele. (J:200958)
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
