Phenotypes Associated with This Genotype

Genotype
MGI:3639603

• Allelic Composition: Jund^tm1Mya/Jund^tm1Mya; Tg(H2-K-Fosl1)1Wag/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:95691 )

• about 60% die within the first 2 weeks after birth

cardiovascular system

visceral vascular congestion ( J:95691 )

• show signs of advanced chronic hepatic and pulmonary congestion

liver vascular congestion ( J:95691 )

pulmonary vascular congestion ( J:95691 )

abnormal myocardial fiber mitochondrial morphology ( J:95691 )

• mitochondria are randomly dispersed in clusters and appear swollen

cardiac hypertrophy ( J:95691 )

• cardiomyocyte hypertrophy and disarray

cardiac interstitial fibrosis ( J:95691 )

• extensive focal interstitial fibrosis in ventricles

dilated cardiomyopathy ( J:95691 )

• heart size of adults is increased

congestive heart failure ( J:95691 )

cellular

abnormal myocardial fiber mitochondrial morphology ( J:95691 )

• mitochondria are randomly dispersed in clusters and appear swollen

cardiac interstitial fibrosis ( J:95691 )

• extensive focal interstitial fibrosis in ventricles

abnormal mitochondrial physiology ( J:95691 )

• MEFs exhibit a marked increase in basal polarization of mitochondria and fast mitochondrial depolarization in response to oligomycin

homeostasis/metabolism

edema ( J:95691 )

• mutants surviving the first month after birth develop peripheral edema

ascites ( J:95691 )

• mutants surviving the first month after birth develop ascites

behavior/neurological

lethargy ( J:95691 )

• mutants surviving the first month after birth become lethargic

muscle

abnormal myocardial fiber mitochondrial morphology ( J:95691 )

• mitochondria are randomly dispersed in clusters and appear swollen

dilated cardiomyopathy ( J:95691 )

• heart size of adults is increased

respiratory system

pulmonary vascular congestion ( J:95691 )

respiratory distress ( J:95691 )

• mutants surviving the first month after birth become dyspneic

liver/biliary system

liver vascular congestion ( J:95691 )

growth/size/body

cardiac hypertrophy ( J:95691 )

• cardiomyocyte hypertrophy and disarray

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:95691