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Exon 6 was replaced with a modified exon in which a T to G point mutation results in the amino acid substitution of alanine for serine at position 151 (S151A). This amino acid substitution is reported in patients with autosomal dominant dilated cardiomyopathy. A neomycin resistance cassette was inserted downstream of the modified exon. (J:234761)
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
