Phenotypes associated with this allele

• Allele Symbol: Mtfp1^tm1.2Wait
• Allele Name: targeted mutation 1.2, Timothy Wai
• Allele ID: MGI:7596142
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Mtfp1^tm1.2Wait/Mtfp1^tm1.2Wait Tg(Myh6-cre)2182Mds/0	involves: C57BL/6N * FVB/N	MGI:7596339

Genotype
MGI:7596339

cn1

• Allelic Composition: Mtfp1^tm1.2Wait/Mtfp1^tm1.2Wait; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: C57BL/6N * FVB/N

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

mortality/aging

premature death ( J:330965 )

• significantly shorter lifespans, 26.4 weeks and 37.5 weeks for males and females, respectively

cardiovascular system

pulmonary vascular congestion ( J:330965 )

• in mice with severe heart failure

enlarged heart ( J:330965 )

• increased mass in mice with severe heart failure

abnormal heart ventricle morphology ( J:330965 )

thin interventricular septum ( J:330965 )

• thinning during systole

dilated heart left ventricle ( J:330965 )

• during diastole and systole

thin ventricular wall ( J:330965 )

• wall thinning at 34 weeks of age

cardiac fibrosis ( J:330965 )

• in symptomatic mice

dilated cardiomyopathy ( J:330965 )

• progressive decrease in systolic function starting at 18 weeks of age culminating in dilated cardiomyopathy and left ventricular remodeling

decreased ventricle muscle contractility ( J:330965 )

• decreased left ventricular ejection fraction by 34 weeks of age

• prior to onset of cardiomyopathy (8-10 weeks of age) no significant difference in cardiomyocyte excitation-contraction coupling is seen

increased cardiomyocyte apoptosis ( J:330965 )

• increased cell death when exposed to H2O2 or doxorubicin in culture and to doxorubicin in vivo

cellular

increased cardiomyocyte apoptosis ( J:330965 )

• increased cell death when exposed to H2O2 or doxorubicin in culture and to doxorubicin in vivo

abnormal mitochondrial physiology ( J:330965 )

• impaired mitochondrial O2 consumption in hearts at early and late stages of dilated cardiomyopathy

• significant reduction in complex I-, complex II- and complex IV-driven mitochondrial respiration

• no changes in mitochondrial protein content or markers of mitochondrial metabolic activity in pre-symptomatic mice

• respiration is about 30% higher in cardiac mitochondria in state 2 and state 4 when complex 1 is fueled by pyruvate, malate, glutamate

• results indicate increase in proton leak in cardiac cells

• increased mitochondrial swelling in response to high concentrations of Ca2+ induced opening of the mitochondrial permeability transition pore

homeostasis/metabolism

increased physiological sensitivity to xenobiotic ( J:330965 )

• increased cardiac dysfunction and acceleration of the onset of cardiomyopathy in response to doxorubicin

growth/size/body

enlarged heart ( J:330965 )

• increased mass in mice with severe heart failure

respiratory system

pulmonary vascular congestion ( J:330965 )

• in mice with severe heart failure

muscle

dilated cardiomyopathy ( J:330965 )

• progressive decrease in systolic function starting at 18 weeks of age culminating in dilated cardiomyopathy and left ventricular remodeling

decreased ventricle muscle contractility ( J:330965 )

• decreased left ventricular ejection fraction by 34 weeks of age

• prior to onset of cardiomyopathy (8-10 weeks of age) no significant difference in cardiomyocyte excitation-contraction coupling is seen

increased cardiomyocyte apoptosis ( J:330965 )

• increased cell death when exposed to H2O2 or doxorubicin in culture and to doxorubicin in vivo