Phenotypes Associated with This Genotype

Genotype
MGI:2677593

• Allelic Composition: Pdpk1^tm1.1Mlw/Pdpk1^tm1.1Mlw; Tg(Ckmm-cre)5Khn/?
• Genetic Background: involves: BALB/c

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

mortality/aging

premature death ( J:85498 )

• normal numbers born

• normal phenotype and survive to wk 5

• growth normal

• breathe and eat normally

• normal activity

• not diabetic to wk 8

• all die at age 5-11 wks

• drop in activity 2-3 days before death and weight loss

• noncardiac muscle normal

cardiovascular system

abnormal cardiovascular system morphology ( J:85498 )

abnormal heart morphology ( J:85498 )

• by 6 wks, collagen levels, ANF and beta-myosin heavy chain levels are increased in hearts

• increased sensitivity of cardiomyocytes to hypoxia

abnormal myocardial fiber morphology ( J:85498 )

• cardiomyocytes appear more separated from each other

• reduction in cardiomyocyte volume

increased heart atrium size ( J:85498 )

• atria enlarge by 6 wks and massively inflated at death

small heart ( J:85498 )

• from 2-4 weeks, hearts became progressively smaller in relative terms but otherwise were normal

• by 6 weeks hearts were much smaller with reduced muscle mass due to smaller cardiomyocytes

myocardium hypoplasia ( J:85498 )

• muscle mass of hearts is significantly reduced

abnormal heart ventricle morphology ( J:85498 )

abnormal heart right ventricle morphology ( J:85498 )

• right ventricle is significantly enlarged by 6 weeks of age

heart right ventricle hypertrophy ( J:85498 )

• by 6 weeks

thin ventricular wall ( J:85498 )

• by 6 weeks

• extremely thin by death

dilated cardiomyopathy ( J:85498 )

• by 8 weeks of age, exhibit an increase in Z-line thickness, a feature of dilated cardiomyopathy

abnormal cardiovascular system physiology ( J:85498 )

• echocardiograms at 5-6 weeks revealing development of heart failure

decreased cardiac muscle contractility ( J:85498 )

• reduced fractional shortening and ejection fraction

growth/size/body

heart right ventricle hypertrophy ( J:85498 )

• by 6 weeks

decreased body weight ( J:85498 )

• observe a significant reduction in body weight 2-3 days before mutants die

muscle

abnormal myocardial fiber morphology ( J:85498 )

• cardiomyocytes appear more separated from each other

• reduction in cardiomyocyte volume

myocardium hypoplasia ( J:85498 )

• muscle mass of hearts is significantly reduced

heart right ventricle hypertrophy ( J:85498 )

• by 6 weeks

dilated cardiomyopathy ( J:85498 )

• by 8 weeks of age, exhibit an increase in Z-line thickness, a feature of dilated cardiomyopathy

decreased cardiac muscle contractility ( J:85498 )

• reduced fractional shortening and ejection fraction

abnormal Z line morphology ( J:85498 )

• thicker Z-line by 8 weeks of age