Analysis Tools|
Allele Symbol Allele Name Allele ID |
Nexntm1Chen targeted mutation 1, Ju Chen MGI:6510877 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cardiomyocytes isolated at E18.5 and transfected with an adenovirus expressing cre recombinase (Ad-cre) exhibit reduced amplitude of calcium transients, and increased duration and prolonged decay of the calcium transient, indicating aberrant calcium homeostasis in cardiomyocytes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all mice die before P12
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• mice develop progressive dilated cardiomyopathy
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• mice develop progressive dilated cardiomyopathy
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| dilated cardiomyopathy 1CC | DOID:0110424 |
OMIM:613122 |
J:290931 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all mice die before P12
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• heart weight to body weight and heart weight to tibial length ratios are increased starting at P5
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• cardiomyocytes from P5 mice do not show membrane invaginations typical of initial T-tubule formation and organized T-tubules are completely absent at P10
• in E18.5 cardiomyocytes, the 12 nm peripheral junctions are decreased, while the 30 nm junctions are increased, indicating impaired associations between the sarcoplasmic reticulum and sarcolemma
• however, cardiomyocytes show no alteration of sarcomeres or Z-disc structure
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• heart weight to body weight and heart weight to tibial length ratios are increased starting at P5
|
|
• mice develop progressive dilated cardiomyopathy
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• echocardiography shows altered cardiac function, with decreased percent fractional shortening seen at P1, P5 and P10, and increased left ventricular diameter at end-diastole and end-systole at P5 and P10
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• cardiomyocytes isolated at E18.5 exhibit reduced amplitude of calcium transients and slower decay of the calcium transient (Tau)
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• hearts show organized thrombus in the left ventricle of the heart
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• cardiomyocytes from P5 mice do not show membrane invaginations typical of initial T-tubule formation and organized T-tubules are completely absent at P10
• in E18.5 cardiomyocytes, the 12 nm peripheral junctions are decreased, while the 30 nm junctions are increased, indicating impaired associations between the sarcoplasmic reticulum and sarcolemma
• however, cardiomyocytes show no alteration of sarcomeres or Z-disc structure
|
|
• mice develop progressive dilated cardiomyopathy
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| dilated cardiomyopathy 1CC | DOID:0110424 |
OMIM:613122 |
J:290931 | |
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 12/17/2024 MGI 6.24 |
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