Phenotypes associated with this allele

• Allele Symbol: Tnnt2^tm2.1Feah
• Allele Name: targeted mutation 2.1, Ferhaan Ahmad
• Allele ID: MGI:5910771
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tnnt2^tm2.1Feah/Tnnt2^+	involves: 129S6/SvEvTac * FVB/N	MGI:5910772
cx2	Pln^tm1Egk/Pln^tm1Egk Tnnt2^tm2.1Feah/Tnnt2^+	involves: 129S2/SvPas * 129S6/SvEvTac * FVB/N	MGI:5910773

Genotype
MGI:5910772

ht1

• Allelic Composition: Tnnt2^tm2.1Feah/Tnnt2⁺
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

decreased survivor rate ( J:243725 )

• mice exhibit poor survival, with females showing better survival rates than males

premature death ( J:243725 )

• mice exhibit poor survival, with females showing better survival rates than males

cardiovascular system

dilated heart left ventricle ( J:243725 )

• increase in left ventricular end diastolic diameter indicating left ventricle dilation

abnormal cardiovascular system physiology ( J:243725 )

• 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 ( J:243725 )

• 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

decreased cardiac muscle contractility ( J:243725 )

• decrease in fractional shorting indicating reduced systolic function

abnormal heart echocardiography feature ( J:243725 )

• 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

decreased heart rate ( J:243725 )

• 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

ventricular tachycardia ( J:243725 )

• 2 of 4 mice exhibit nonsustainable polymorphic ventricular tachyarrhythmia on aggressive programmed ventricular stimulation

abnormal myocardial fiber physiology ( J:243725 )

• 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 ( J:243725 )

• 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

decreased cardiac muscle contractility ( J:243725 )

• decrease in fractional shorting indicating reduced systolic function

nervous system

abnormal action potential ( J:243725 )

• 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

Genotype
MGI:5910773

cx2

• Allelic Composition: Pln^tm1Egk/Pln^tm1Egk; Tnnt2^tm2.1Feah/Tnnt2⁺
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * FVB/N

cardiovascular system

dilated heart left ventricle ( J:243725 )

• mice exhibit left ventricular dilatation

dilated cardiomyopathy ( J:243725 )

• dilated cardiomyopathy is similar to that seen in single Tnnt2 heterozygotes

decreased cardiac muscle contractility ( J:243725 )

• mice exhibit decreased fractional shortening

muscle

dilated cardiomyopathy ( J:243725 )

• dilated cardiomyopathy is similar to that seen in single Tnnt2 heterozygotes

decreased cardiac muscle contractility ( J:243725 )

• mice exhibit decreased fractional shortening