Analysis Tools|
Allele Symbol Allele Name Allele ID |
Sdhaf4em1Bcgen endonuclease-mediated mutation 1, Biocytogen LLC MGI:7596072 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• significantly reduced viability at 8 weeks after tamoxifen treatment
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• after tamoxifen treatment
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• after tamoxifen treatment
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• none survive past 12 weeks of age
• treatment with sodium fumarate dibasic or Mdivi-1 (a specific Dnm1l inhibitor) to target mitochondria substantially prolongs the survival of the mice
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• severe abnormalities in myofibril/sarcomere organization and intramitochondrial structure at 8 weeks of age
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• despite the increase in number of mitochondria the amount of mtDNA is reduced
• at 8 weeks of age cristae malformations, electron-dense inclusions and hypodense compartments are seen
• at 8 weeks of age the number of mitochondria is increased and the size is decreased
• treatment with sodium fumarate dibasic or Mdivi-1 (a specific Dnm1l inhibitor) improves mitochondrial morphology
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• in cardiomyocytes at 8 weeks of age
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• thickening of the cardiac muscle by 3-4 weeks of age
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• starting at 3 weeks of age
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• develops at later stages
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• present at 7 weeks but not at 4 weeks of age
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• at later stages
• upregulation of pathological markers is seen primarily in the left ventricle
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• deregulated cardiac contraction
• treatment with Mdivi-1 (a specific Dnm1l inhibitor) improves cardiac function
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• decrease in left ventricular fractional shortening
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• starting at 3 weeks of age
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• lower body weights in mice older than 6 weeks
• no difference in body weight is detected during the first 6 weeks of life
• ratio of tibialis anterior muscle weight to body weight is similar to controls
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• at 8 weeks of age cristae malformations, electron-dense inclusions and hypodense compartments are seen
• at 8 weeks of age the number of mitochondria is increased and the size is decreased
• despite the increase in number of mitochondria the amount of mtDNA is reduced
• treatment with sodium fumarate dibasic or Mdivi-1 (a specific Dnm1l inhibitor) improves mitochondrial morphology
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• in cardiomyocytes at 8 weeks of age
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• mitochondrial dysfunction in the heart indicated by expression analysis, increase in protein oxidation, and decreases in TCA cycle related metabolites
• analysis of posttranslational modification of Dnm1l and other results suggest an increase in mitochondrial fission
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• deregulated TCA cycle in cardiomyocytes
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• severe abnormalities in myofibril/sarcomere organization and intramitochondrial structure at 8 weeks of age
|
|
• at 8 weeks of age cristae malformations, electron-dense inclusions and hypodense compartments are seen
• at 8 weeks of age the number of mitochondria is increased and the size is decreased
• despite the increase in number of mitochondria the amount of mtDNA is reduced
• treatment with sodium fumarate dibasic or Mdivi-1 (a specific Dnm1l inhibitor) improves mitochondrial morphology
|
|
• in cardiomyocytes at 8 weeks of age
|
|
• thickening of the cardiac muscle by 3-4 weeks of age
|
|
• at later stages
• upregulation of pathological markers is seen primarily in the left ventricle
|
|
• deregulated cardiac contraction
• treatment with Mdivi-1 (a specific Dnm1l inhibitor) improves cardiac function
|
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• decrease in left ventricular fractional shortening
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| dilated cardiomyopathy | DOID:12930 |
OMIM:PS115200 |
J:345348 | |
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 10/29/2024 MGI 6.24 |
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