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This transgene consists of human TNNI3, with an amino acid substitution of a glycine by serine at codon 203 that causes familial hypertrophic cardiomyopathy in humans, under the control of the cardiac specific alpha-myosin heavy chain promoter. This line expresses the lowest amount of mutant protein and represents relative proportions of mutant protein of 48%. (J:114537)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
