All Phenotypes Col1a1<tm3(CAG-IDH2*R140Q)Kkw> MGI Mouse

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
D-2-hydroxyglutaric aciduria	DOID:0050575	OMIM:PS600721	J:209629

premature death ( J:209629 )

• mean survival after tamoxifen administration is 7 weeks

respiratory distress ( J:209629 )

• mice show shortness of breath within 3-4 weeks of tamoxifen administration

lethargy ( J:209629 )

• mice show signs of lethargy within 3-4 weeks of tamoxifen administration

blood vessel congestion ( J:209629 )

• microscopic signs of circulatory congestion associated with cardiac failure are seen after tamoxifen administration

abnormal myocardial fiber morphology ( J:209629 )

• myocyte dropout associated with myocyte hypertrophy and nuclear enlargement 4 weeks after tamoxifen administration

abnormal myocardial fiber mitochondrial morphology ( J:209629 )

• 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

enlarged heart ( J:209629 )

• heart enlargement after tamoxifen administration

cardiac fibrosis ( J:209629 )

• seen after tamoxifen treatment

dilated cardiomyopathy ( J:209629 )

• 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

decreased cardiac muscle contractility ( J:209629 )

• fractional shortening is decreased in tamoxifen treated mice

abnormal mitochondrial morphology ( J:209629 )

• evidence of mitophagy is seen in tamoxifen treated mice, as indicated by the presence of double-membrane autophagosomes

abnormal myocardial fiber mitochondrial morphology ( J:209629 )

• 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

abnormal mitochondrial crista morphology ( J:209629 )

• disrupted cristae in cardiomyocytes of tamoxifen administration

abnormal skeletal muscle fiber mitochondrial morphology ( J:209629 )

• skeletal muscle shows abnormalities in mitochondria after tamoxifen administration

decreased mitochondrial number ( J:209629 )

• in cardiomyocytes of tamoxifen treated mice

increased cardiomyocyte apoptosis ( J:209629 )

• cardiac defects following tamoxifen administration are associated with high levels of apoptosis in cardiomyocytes

abnormal mitochondrial physiology ( J:209629 )

• decrease in the steady-state mitochondrial tricarboxylic acid cycle intermediates in mice treated with tamoxifen

increased skeletal muscle glycogen level ( J:209629 )

• skeletal muscle shows glycogen accumulation in tamoxifen treated mice

brain vacuoles ( J:209629 )

• 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

neurodegeneration ( J:209629 )

• 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

abnormal myocardial fiber morphology ( J:209629 )

• myocyte dropout associated with myocyte hypertrophy and nuclear enlargement 4 weeks after tamoxifen administration

abnormal myocardial fiber mitochondrial morphology ( J:209629 )

• 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

dilated cardiomyopathy ( J:209629 )

• 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

decreased cardiac muscle contractility ( J:209629 )

• fractional shortening is decreased in tamoxifen treated mice

increased cardiomyocyte apoptosis ( J:209629 )

• cardiac defects following tamoxifen administration are associated with high levels of apoptosis in cardiomyocytes

abnormal sarcomere morphology ( J:209629 )

• cardiomyocytes show sarcomere degeneration and severe disorganization at 4 weeks after tamoxifen administration

• skeletal muscle shows abnormalities in sarcomere organization after tamoxifen administration

abnormal Z line morphology ( J:209629 )

• cardiac Z disks are perturbed in mice treated with tamoxifen

abnormal skeletal muscle morphology ( J:209629 )

• skeletal muscle shows abnormalities in sarcomere organization, mitochondria, and glycogen accumulation in tamoxifen treated mice

abnormal skeletal muscle fiber mitochondrial morphology ( J:209629 )

• skeletal muscle shows abnormalities in mitochondria after tamoxifen administration

increased skeletal muscle glycogen level ( J:209629 )

• skeletal muscle shows glycogen accumulation in tamoxifen treated mice

enlarged heart ( J:209629 )

• heart enlargement after tamoxifen administration

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

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

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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