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Phenotypes Associated with This Genotype
Genotype
MGI:5294945
Allelic
Composition
Tg(CAG-NRIP1)51Row/0
Genetic
Background
involves: FVB/N
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See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 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

cardiovascular system
• some mutants show inflammation in the lungs, with congestion and fibrosis
• 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
• atria show increased collagen deposition
• at 4 months of age, atria are enlarged and rigid with areas of calcification
• 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
• at 4 months of age, ventricles have a distorted shape and exhibit myocyte disarray
• 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
• mutants exhibit decreased ejection fraction
• cardiomyopathy characterized by ventricular wall thinning and increase in size of ventricular cavity
• 24% of males and 20% of females exhibit heart failure by 20 weeks of age

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

homeostasis/metabolism
• 75% of males and 30% of females exhibit thrombus in one or both atria from 6 weeks of age
• ascites are seen in some mutants
• pleural effusion is seen in some mutants

immune system
• some mutants show inflammation in the lungs

mortality/aging
• 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
• females fail to survive after parturition

muscle
• 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
• mutants exhibit decreased ejection fraction
• cardiomyopathy characterized by ventricular wall thinning and increase in size of ventricular cavity

respiratory system
• some mutants show inflammation in the lungs, with congestion and fibrosis
• pleural effusion is seen in some mutants
• some mutants show inflammation in the lungs
• some mutants show inflammation in the lungs, with congestion and fibrosis

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory