Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1tm3(CAG-IDH2*R140Q)Kkw mutation
(0 available);
any
Col1a1 mutation
(160 available)
Tmem163Tg(ACTB-cre)2Mrt mutation
(3 available);
any
Tmem163 mutation
(35 available)
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mortality/aging
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• mice that survive the embryonic period die between 3 and 7 weeks of age
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growth/size/body
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• surviving mice are runted
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cardiovascular system
behavior/neurological
nervous system
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1tm3(CAG-IDH2*R140Q)Kkw mutation
(0 available);
any
Col1a1 mutation
(160 available)
Ndor1Tg(UBC-cre/ERT2)1Ejb mutation
(6 available);
any
Ndor1 mutation
(32 available)
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mortality/aging
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• mean survival after tamoxifen administration is 7 weeks
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respiratory system
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• mice show shortness of breath within 3-4 weeks of tamoxifen administration
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behavior/neurological
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• mice show signs of lethargy within 3-4 weeks of tamoxifen administration
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cardiovascular system
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• microscopic signs of circulatory congestion associated with cardiac failure are seen after tamoxifen administration
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• myocyte dropout associated with myocyte hypertrophy and nuclear enlargement 4 weeks after tamoxifen administration
• mitochondrial abnormalities in cardiomyocytes after tamoxifen administration, with disrupted cristae, smaller or swollen mitochondria, and decrease in the total mitochondrial counts and mitochondrial DNA content
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• mitochondrial abnormalities in cardiomyocytes after tamoxifen administraton, with disrupted cristae, smaller or swollen mitochondria, and decrease in the total mitochondrial counts and mitochondrial DNA content
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• heart enlargement after tamoxifen administration
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• seen after tamoxifen treatment
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• 4 weeks after tamoxifen administration, mice exhibit end-stage cardiomyopathy characterized by severely decreased wall motion and increased dilatation without a change in heart rate
• 4 weeks after tamoxifen administration, mice show scarring of the hearts associated with accumulating collagen deposits
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• fractional shortening is decreased in tamoxifen treated mice
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• cardiac defects following tamoxifen administration are associated with high levels of apoptosis in cardiomyocytes
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cellular
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• cardiac defects following tamoxifen administration are associated with high levels of apoptosis in cardiomyocytes
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• evidence of mitophagy is seen in tamoxifen treated mice, as indicated by the presence of double-membrane autophagosomes
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• mitochondrial abnormalities in cardiomyocytes after tamoxifen administraton, with disrupted cristae, smaller or swollen mitochondria, and decrease in the total mitochondrial counts and mitochondrial DNA content
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• disrupted cristae in cardiomyocytes of tamoxifen administration
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• skeletal muscle shows abnormalities in mitochondria after tamoxifen administration
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• in cardiomyocytes of tamoxifen treated mice
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• decrease in the steady-state mitochondrial tricarboxylic acid cycle intermediates in mice treated with tamoxifen
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homeostasis/metabolism
nervous system
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• mice treated with tamoxifen exhibit vacuoles in multiple brain regions, including cortex, white matter, hippocampus, and brain stem
• vacuoles are filled with membranous debris at both myelinated axons and nonmyelinated naked axons but not in the neuron bodies
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• diffuse vacuolar leukoencephalopathy in the white and gray matter throughout the CNS of tamoxifen treated mice
• vesicles are double-membraned, suggesting elevation in autophagy and mitochondrial abnormalities in axons of the brain
• however, no evidence of apoptosis or glycogen accumulation is seen in the brain
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muscle
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• myocyte dropout associated with myocyte hypertrophy and nuclear enlargement 4 weeks after tamoxifen administration
• mitochondrial abnormalities in cardiomyocytes after tamoxifen administration, with disrupted cristae, smaller or swollen mitochondria, and decrease in the total mitochondrial counts and mitochondrial DNA content
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• mitochondrial abnormalities in cardiomyocytes after tamoxifen administraton, with disrupted cristae, smaller or swollen mitochondria, and decrease in the total mitochondrial counts and mitochondrial DNA content
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• 4 weeks after tamoxifen administration, mice exhibit end-stage cardiomyopathy characterized by severely decreased wall motion and increased dilatation without a change in heart rate
• 4 weeks after tamoxifen administration, mice show scarring of the hearts associated with accumulating collagen deposits
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• fractional shortening is decreased in tamoxifen treated mice
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• cardiac defects following tamoxifen administration are associated with high levels of apoptosis in cardiomyocytes
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• cardiomyocytes show sarcomere degeneration and severe disorganization at 4 weeks after tamoxifen administration
• skeletal muscle shows abnormalities in sarcomere organization after tamoxifen administration
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• cardiac Z disks are perturbed in mice treated with tamoxifen
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• skeletal muscle shows abnormalities in sarcomere organization, mitochondria, and glycogen accumulation in tamoxifen treated mice
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• skeletal muscle shows abnormalities in mitochondria after tamoxifen administration
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• skeletal muscle shows glycogen accumulation in tamoxifen treated mice
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growth/size/body
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• heart enlargement after tamoxifen administration
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Analysis Tools