The transgene encodes a mutant human troponin T2, cardiac having a single-codon, in-frame deletion of the glutamic acid at amino acid position 160. This mutation was identified in affected members of families having dominantly inherited left ventricular hypertrophic cardiomyopathy which, although often mild or subclinical, is associated with a high incidence of sudden death at an early age. (J:91746)

Basic Information

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

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

Title
PMID
Journal
Year
IF
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