Phenotypes Associated with This Genotype

Genotype
MGI:5426794

• Allelic Composition: A1cf^{Tg(Myh6-cre/Esr1*)1Jmk}/A1cf⁺; Tg(CAG-DMPK*)1323Coop/0
• Genetic Background: involves: FVB

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

mortality/aging

premature death ( J:127391 )

• mutants treated with tamoxifen at 8-9 weeks of age to induce Cre-mediated recombination die within 2 weeks of tamoxifen injection

cardiovascular system

abnormal myocardial fiber morphology ( J:127391 )

• cardiomyocyte cytoplasm of tamoxifen treated mutants appears pale in patchy areas and contains variably prominent numbers of pink granules; focally abundant mitochondria correlate with the pink granules

• in some myocytes of tamoxifen treated mutants, aggregates of proliferating membranes of the sarcoplasmic reticulum are seen

• however, sarcomeres and Z-lines appear normal

increased myocardial fiber size ( J:127391 )

• mutants treated with tamoxifen exhibit myocyte hypertrophy with enlarged, irregular myocyte nuclei

decreased heart left ventricle wall thickness ( J:127391 )

• thinning of the left ventricular wall after treatment with tamoxifen

dilated heart left ventricle ( J:127391 )

• dilation of the left ventricle after treatment with tamoxifen

cardiac interstitial fibrosis ( J:127391 )

• rare degenerating myocytes and focal areas of mild interstitial fibrosis are seen in mutants treated with tamoxifen

abnormal cardiovascular system physiology ( J:127391 )

• mutants treated with tamoxifen exhibit cardiac dysfunction in both systolic and diastolic parameters

dilated cardiomyopathy ( J:127391 )

• mutants treated with tamoxifen at 8-9 weeks of age to induce Cre-mediated recombination develop dilated cardiomyopathy

decreased diastolic filling velocity ( J:127391 )

• peak early diastolic filling velocity is decreased by more than 30% in mutants treated with tamoxifen

decreased cardiac muscle contractility ( J:127391 )

• systolic function of mutants treated with tamoxifen exhibits a 50% or greater decrease in peak aortic flow velocity and both mean and peak acceleration

abnormal cardiac muscle relaxation ( J:127391 )

• isovolumic relaxation time is prolonged by more than 50% in mutants treated with tamoxifen

irregular heartbeat ( J:127391 )

• standard deviation of RR intervals is increased 5-fold after tamoxifen administration

atrioventricular block ( J:127391 )

• at 4 days after the last day of tamoxifen administration, mice show 2:1 atrioventricular block

prolonged PR interval ( J:127391 )

• progressive lengthening of the PR interval is seen beginning 2 days after the last day of tamoxifen administration

prolonged QRS complex duration ( J:127391 )

• widening of the QRS complex is seen beginning 2 days after the last day of tamoxifen administration

muscle

abnormal myocardial fiber morphology ( J:127391 )

• cardiomyocyte cytoplasm of tamoxifen treated mutants appears pale in patchy areas and contains variably prominent numbers of pink granules; focally abundant mitochondria correlate with the pink granules

• in some myocytes of tamoxifen treated mutants, aggregates of proliferating membranes of the sarcoplasmic reticulum are seen

• however, sarcomeres and Z-lines appear normal

increased myocardial fiber size ( J:127391 )

• mutants treated with tamoxifen exhibit myocyte hypertrophy with enlarged, irregular myocyte nuclei

dilated cardiomyopathy ( J:127391 )

• mutants treated with tamoxifen at 8-9 weeks of age to induce Cre-mediated recombination develop dilated cardiomyopathy

decreased cardiac muscle contractility ( J:127391 )

• systolic function of mutants treated with tamoxifen exhibits a 50% or greater decrease in peak aortic flow velocity and both mean and peak acceleration

abnormal cardiac muscle relaxation ( J:127391 )

• isovolumic relaxation time is prolonged by more than 50% in mutants treated with tamoxifen

cellular

cardiac interstitial fibrosis ( J:127391 )

• rare degenerating myocytes and focal areas of mild interstitial fibrosis are seen in mutants treated with tamoxifen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myotonic dystrophy type 1		DOID:11722	OMIM:160900	J:127391