Phenotypes Associated with This Genotype

Genotype
MGI:5294945

• Allelic Composition: Tg(CAG-NRIP1)51Row/0
• Genetic Background: involves: FVB/N

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

cardiovascular system

pulmonary vascular congestion ( J:175885 )

• some mutants show inflammation in the lungs, with congestion and fibrosis

abnormal myocardial fiber morphology ( J:175885 )

• collagen is localized around groups of small cardiomyocytes with perinuclear spaces, as a result of myofibril loss and myocytolysis

• atrial-specific granules, which contain the atrial natriuretic peptide, are more numerous in atrial cardiomyocytes than in wild-type mice

abnormal myocardial fiber mitochondrial morphology ( J:175885 )

• mitochondria are small in some cardiomyocytes and include defects such as breakage and deterioration of cristae and the presence of intramitochondrial lamellar bodies

• number of mitochondria in cardiomyocytes is reduced

myocardial fiber disarray ( J:175885 )

• at 4 months of age, ventricles exhibit myocyte disarray

abnormal heart atrium morphology ( J:175885 )

• atria show increased collagen deposition

increased heart atrium size ( J:175885 )

• at 4 months of age, atria are enlarged and rigid with areas of calcification

abnormal heart ventricle shape ( J:175885 )

• at 4 months of age, ventricles have a distorted shape

cardiac hypertrophy ( J:175885 )

• evidence of cardiac hypertrophy at 4 months of age

• heart mass progressively increases from about 4 weeks of age in males and about 8 weeks of age in females

cardiac interstitial fibrosis ( J:175885 )

• ventricles exhibit progressive interstitial fibrosis, first detected at 2 weeks of age

• at 4 weeks of age, males and females have equal amounts of fibrosis but by 8 weeks of age, male have more fibrosis than females

decreased cardiac muscle contractility ( J:175885 )

• mutants exhibit decreased ejection fraction

cardiomyopathy ( J:175885 )

• cardiomyopathy characterized by ventricular wall thinning and increase in size of ventricular cavity

congestive heart failure ( J:175885 )

• 24% of males and 20% of females exhibit heart failure by 20 weeks of age

cellular

abnormal myocardial fiber mitochondrial morphology ( J:175885 )

• mitochondria are small in some cardiomyocytes and include defects such as breakage and deterioration of cristae and the presence of intramitochondrial lamellar bodies

• number of mitochondria in cardiomyocytes is reduced

cardiac interstitial fibrosis ( J:175885 )

• ventricles exhibit progressive interstitial fibrosis, first detected at 2 weeks of age

• at 4 weeks of age, males and females have equal amounts of fibrosis but by 8 weeks of age, male have more fibrosis than females

decreased mitochondrial number ( J:175885 )

• number of mitochondria in cardiomyocytes is reduced

abnormal respiratory electron transport chain ( J:175885 )

• oxygen consumption and membrane potential are reduced in mitochondria, indicating compromised electron transport chain activity

homeostasis/metabolism

abnormal atrial thrombosis ( J:175885 )

• 75% of males and 30% of females exhibit thrombus in one or both atria from 6 weeks of age

ascites ( J:175885 )

• ascites are seen in some mutants

pleural effusion ( J:175885 )

• pleural effusion is seen in some mutants

immune system

lung inflammation ( J:175885 )

• some mutants show inflammation in the lungs

mortality/aging

premature death ( J:175885 )

• 24% of males and 20% of females die from heart failure by 20 weeks of age

• more males than females die prior to 8 weeks

pregnancy-related premature death ( J:175885 )

• females fail to survive after parturition

muscle

abnormal myocardial fiber morphology ( J:175885 )

• collagen is localized around groups of small cardiomyocytes with perinuclear spaces, as a result of myofibril loss and myocytolysis

• atrial-specific granules, which contain the atrial natriuretic peptide, are more numerous in atrial cardiomyocytes than in wild-type mice

abnormal myocardial fiber mitochondrial morphology ( J:175885 )

• mitochondria are small in some cardiomyocytes and include defects such as breakage and deterioration of cristae and the presence of intramitochondrial lamellar bodies

• number of mitochondria in cardiomyocytes is reduced

myocardial fiber disarray ( J:175885 )

• at 4 months of age, ventricles exhibit myocyte disarray

decreased cardiac muscle contractility ( J:175885 )

• mutants exhibit decreased ejection fraction

cardiomyopathy ( J:175885 )

• cardiomyopathy characterized by ventricular wall thinning and increase in size of ventricular cavity

respiratory system

pulmonary vascular congestion ( J:175885 )

• some mutants show inflammation in the lungs, with congestion and fibrosis

pleural effusion ( J:175885 )

• pleural effusion is seen in some mutants

lung inflammation ( J:175885 )

• some mutants show inflammation in the lungs

pulmonary fibrosis ( J:175885 )

• some mutants show inflammation in the lungs, with congestion and fibrosis

growth/size/body

cardiac hypertrophy ( J:175885 )

• evidence of cardiac hypertrophy at 4 months of age

• heart mass progressively increases from about 4 weeks of age in males and about 8 weeks of age in females

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cardiomyopathy		DOID:0050700		J:175885