Phenotypes associated with this allele

• Allele Symbol: Dnaja3^tm1.1Jdl
• Allele Name: targeted mutation 1.1, Jiing-Dwan Lee
• Allele ID: MGI:3040717
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Dnaja3^tm1.1Jdl/Dnaja3^tm1.1Jdl Tg(Myhca-cre)1Abel/0	involves: 129X1/SvJ * C57BL/6J * FVB	MGI:3665423

Genotype
MGI:3665423

cn1

• Allelic Composition: Dnaja3^tm1.1Jdl/Dnaja3^tm1.1Jdl; Tg(Myhca-cre)1Abel/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * FVB

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

mortality/aging

premature death ( J:104462 )

• only ~5% of mutant mice are obtained at 2 weeks of age (i.e. ~20% of expected Mendelian ratio), with no differences in survival ratio after backcrossing to C57BL/6J or FVB for two generations

• all surviving mutants die before the age of 10 weeks

embryonic lethality during organogenesis, incomplete penetrance ( J:104462 )

• most mutant embryos die between E10.5 and E13.5

cardiovascular system

abnormal myocardial fiber morphology ( J:104462 )

• at 4 weeks of age, mutant cardiomyocytes exhibit swollen mitochondria with electron-dense bodies and disarrayed sarcomeres

• mitochondrial abnormalities precede any other subcellular changes in mutant hearts

decreased myocardial fiber mitochondrial DNA content ( J:104462 )

• mutant cardiomyocytes show decreased copy number of mitochondrial DNA

trabecula carnea hypoplasia ( J:104462 )

• at E10.5, mutant embryos exhibit impaired trabecular formation

enlarged heart ( J:104462 )

• at 4 weeks of age, surviving mutants have an enlarged heart

dilated heart left ventricle ( J:104462 )

dilated heart right ventricle ( J:104462 )

pericardial effusion ( J:104462 )

• at E10.5, mutant embryos display pericardial effusion

cardiac interstitial fibrosis ( J:104462 )

• at 4 weeks, mutant hearts exhibit mild interstitial fibrosis

dilated cardiomyopathy ( J:104462 )

• at 4 weeks of age, mutants display dilated ventricular chambers, impaired contractility and pressure volume loops suggestive of dilated cardiomyopathy

decreased heart ventricle muscle contractility ( J:104462 )

• at 4 weeks of age, mutants display impaired ventricular contractility

congestive heart failure ( J:104462 )

• at 4 weeks of age, surviving mutants exhibit features of congestive heart failure, i.e. enlarged hearts, pleural effusions and edematous connective tissues

embryo

embryonic growth retardation ( J:104462 )

• most mutant embryos are growth retarded, with their heart size remaining similar to that of E10.5 control embryos

cellular

decreased myocardial fiber mitochondrial DNA content ( J:104462 )

• mutant cardiomyocytes show decreased copy number of mitochondrial DNA

cardiac interstitial fibrosis ( J:104462 )

• at 4 weeks, mutant hearts exhibit mild interstitial fibrosis

dilated mitochondrion ( J:104462 )

• at 4 weeks of age, mutant cardiomyocytes exhibit swollen mitochondria with electron-dense bodies

increased cardiomyocyte apoptosis ( J:104462 )

• at 4 weeks of age, mutants exhibit a mosaic pattern of cardiomyocyte degeneration, with a significant increase in cardiomyocyte apoptosis

abnormal respiratory electron transport chain ( J:104462 )

• mutant cardiomyocytes show progressive respiratory chain deficiency

• as expected, all mitochondrial respiratory chain functions remain at normal levels in skeletal muscle

growth/size/body

enlarged heart ( J:104462 )

• at 4 weeks of age, surviving mutants have an enlarged heart

embryonic growth retardation ( J:104462 )

• most mutant embryos are growth retarded, with their heart size remaining similar to that of E10.5 control embryos

behavior/neurological

decreased locomotor activity ( J:104462 )

• at 3 weeks of age, mutant survivors exhibit reduced locomotor activity

muscle

abnormal myocardial fiber morphology ( J:104462 )

• at 4 weeks of age, mutant cardiomyocytes exhibit swollen mitochondria with electron-dense bodies and disarrayed sarcomeres

• mitochondrial abnormalities precede any other subcellular changes in mutant hearts

decreased myocardial fiber mitochondrial DNA content ( J:104462 )

• mutant cardiomyocytes show decreased copy number of mitochondrial DNA

trabecula carnea hypoplasia ( J:104462 )

• at E10.5, mutant embryos exhibit impaired trabecular formation

dilated cardiomyopathy ( J:104462 )

• at 4 weeks of age, mutants display dilated ventricular chambers, impaired contractility and pressure volume loops suggestive of dilated cardiomyopathy

decreased heart ventricle muscle contractility ( J:104462 )

• at 4 weeks of age, mutants display impaired ventricular contractility

increased cardiomyocyte apoptosis ( J:104462 )

• at 4 weeks of age, mutants exhibit a mosaic pattern of cardiomyocyte degeneration, with a significant increase in cardiomyocyte apoptosis

abnormal sarcomere morphology ( J:104462 )

• at 4 weeks of age, mutant cardiomyocytes display disarrayed sarcomeres

homeostasis/metabolism

pericardial effusion ( J:104462 )

• at E10.5, mutant embryos display pericardial effusion