Phenotypes Associated with This Genotype

Genotype
MGI:5911326

• Allelic Composition: Med1^tm2Jkr/Med1^tm2Jkr; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

Heart sections of Med1^tm2Jkr/Med1^tm2Jkr Tg(Myh6-cre)2182Mds/0 heart reveal thinning of ventricular walls and dilation of chambers.

mortality/aging

premature death ( J:243730 )

• nearly 100% of mice die within 10 days post weaning

cardiovascular system

abnormal myocardial fiber morphology ( J:243730 )

• lipid vacuoles of differing sizes are seen in cardiomyocytes

abnormal myocardial fiber mitochondrial morphology ( J:243730 )

• cardiomyocytes show varying mitochondrial abnormalities, with some mitochondria containing lipid droplets and membranous swirls

decreased myocardial fiber mitochondrial DNA content ( J:243730 )

• mitochondrial DNA content is decreased in hearts

dilated heart atrium ( J:243730 )

enlarged heart ( J:243730 )

• size of the heart increases by 22-29 days of age

thin ventricular wall ( J:243730 )

dilated heart ventricle ( J:243730 )

• dilation of right and left ventricular chambers with thinning of the walls and myocardial cells

cardiac interstitial fibrosis ( J:243730 )

dilated cardiomyopathy ( J:243730 )

• dilated cardiomyopathy with atrial and ventricular dilatation

decreased cardiac muscle contractility ( J:243730 )

• at day 29, contractility of heart is diminished with a fractional shortening of 9.47% compared to 41.08% in controls and ejection fraction of 20.7% compared to 74.27% in controls

abnormal heart echocardiography feature ( J:243730 )

• echocardiography shows increased left ventricular end-diastolic internal dimension, decreased fractional shortening, and decreased ejection fraction

congestive heart failure ( J:243730 )

cellular

abnormal myocardial fiber mitochondrial morphology ( J:243730 )

• cardiomyocytes show varying mitochondrial abnormalities, with some mitochondria containing lipid droplets and membranous swirls

decreased myocardial fiber mitochondrial DNA content ( J:243730 )

• mitochondrial DNA content is decreased in hearts

cardiac interstitial fibrosis ( J:243730 )

increased cardiomyocyte apoptosis ( J:243730 )

• increase in apoptosis in hearts, with an increase in the percentage of apoptotic cardiomyocytes

homeostasis/metabolism

cardiac edema ( J:243730 )

• heart weight/body weight ratio is increased but dry heart weight is decreased, suggesting edematous heart

pulmonary edema ( J:243730 )

• lung weight/body weight ratio is increased most likely due to pulmonary edema

muscle

abnormal myocardial fiber morphology ( J:243730 )

• lipid vacuoles of differing sizes are seen in cardiomyocytes

abnormal myocardial fiber mitochondrial morphology ( J:243730 )

• cardiomyocytes show varying mitochondrial abnormalities, with some mitochondria containing lipid droplets and membranous swirls

decreased myocardial fiber mitochondrial DNA content ( J:243730 )

• mitochondrial DNA content is decreased in hearts

dilated cardiomyopathy ( J:243730 )

• dilated cardiomyopathy with atrial and ventricular dilatation

decreased cardiac muscle contractility ( J:243730 )

• at day 29, contractility of heart is diminished with a fractional shortening of 9.47% compared to 41.08% in controls and ejection fraction of 20.7% compared to 74.27% in controls

increased cardiomyocyte apoptosis ( J:243730 )

• increase in apoptosis in hearts, with an increase in the percentage of apoptotic cardiomyocytes

abnormal Z line morphology ( J:243730 )

• irregularities in Z band pattern

respiratory system

pulmonary edema ( J:243730 )

• lung weight/body weight ratio is increased most likely due to pulmonary edema

growth/size/body

enlarged heart ( J:243730 )

• size of the heart increases by 22-29 days of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congestive heart failure		DOID:6000		J:243730
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:243730