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Phenotypes Associated with This Genotype
Genotype
MGI:5910772
Allelic
Composition
Tnnt2tm2.1Feah/Tnnt2+
Genetic
Background
involves: 129S6/SvEvTac * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tnnt2tm2.1Feah mutation (0 available); any Tnnt2 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit poor survival, with females showing better survival rates than males
• mice exhibit poor survival, with females showing better survival rates than males

cardiovascular system
• increase in left ventricular end diastolic diameter indicating left ventricle dilation
• the Hill coefficient is decreased in hearts, implying decreased cooperativity in muscle force generation
• 54% and 20% increases, respectively, in peak systolic and end diastolic intracellular calcium concentrations in 8 week old hearts
• hearts show a prolonged systolic rise and diastolic fall in calcium concentrations
• dilated cardiomyopathy is evident at 6 weeks of age and persists at 12 and 30 weeks of age
• however, no myofibrillar disarray, fibrosis or apoptosis is seen in 16 week old mice
• decrease in fractional shorting indicating reduced systolic function
• echocardiography shows increases in left ventricular end diastolic diameter and left ventricular end systolic diameter and decreases in fractional shorting in both males and females at 6, 12, and 30 weeks of age
• hearts exhibit a slower intrinsic sinus rhythm heart rate
• hearts exhibit lower peak heart rates in response to beta-adrenergic stimulation with isoproterenol and exposure to higher isoproterenol levels leads to sustained dysrhythmias
• 2 of 4 mice exhibit nonsustainable polymorphic ventricular tachyarrhythmia on aggressive programmed ventricular stimulation
• skinned fibers from hearts show reduced myofilament calcium sensitivity, without any changes in maximally activated force or length-dependent changes in calcium sensitivity

muscle
• dilated cardiomyopathy is evident at 6 weeks of age and persists at 12 and 30 weeks of age
• however, no myofibrillar disarray, fibrosis or apoptosis is seen in 16 week old mice
• decrease in fractional shorting indicating reduced systolic function

nervous system
• action potential durations are shorter in hearts

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dilated cardiomyopathy 1D DOID:0110426 OMIM:601494
J:243725


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory