Phenotypes associated with this allele

• Allele Symbol: Cav1^tm1Krc
• Allele Name: targeted mutation 1, Kenneth R Chien
• Allele ID: MGI:2386787
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cav1^tm1Krc/Cav1^tm1Krc	involves: 129S4/SvJae * Black Swiss	MGI:3619925

Genotype
MGI:3619925

hm1

• Allelic Composition: Cav1^tm1Krc/Cav1^tm1Krc
• Genetic Background: involves: 129S4/SvJae * Black Swiss

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

cardiovascular system

heart right ventricle hypertrophy ( J:78603 )

• homozygotes show a significant increase in RV/body weight ratio relative to age- and gender-matched wild-type mice

• notably, the LV/RV weight ratio is dramatically reduced and similar to that observed in pulmonary hypertension animal models

thin interventricular septum ( J:78603 )

• at 5 months, homozygotes display a thin ventricular septum

increased heart left ventricle weight ( J:78603 )

• homozygotes show a significant increase in LV/body weight ratio relative to age- and gender-matched wild-type mice

decreased heart left ventricle posterior wall thickness ( J:78603 )

• at 5 months, homozygotes display a thin LV posterior wall

dilated heart left ventricle ( J:78603 )

• homozygotes exhibit increased left ventricular end-diastolic dimensions and end-systolic dimensions

dilated heart right ventricle ( J:78603 )

dilated cardiomyopathy ( J:78603 )

• homozygotes display dilated cardiomyopathy in the left ventricular chamber

decreased ventricle muscle contractility ( J:78603 )

• homozygotes show a significant reduction in both fractional shortening percentage and mean velocity of circumferential fiber shortening, indicating depressed systolic cardiac function

• in contrast, baseline right ventricle contractility and diastolic function are significantly increased

pulmonary hypertension ( J:78603 )

• homozygotes exhibit a pulmonary artery pressure that is 90% higher than that of wild-type mice

• at baseline, RV pressure is comparable to pulmonary artery pressure either in wild-type or mutant mice, indicating absence of pulmonary valvular defects

• chronic pulmonary hypertension does not appear to be secondary to LV dysfunction but results in marked RV hypertrophy

growth/size/body

heart right ventricle hypertrophy ( J:78603 )

• homozygotes show a significant increase in RV/body weight ratio relative to age- and gender-matched wild-type mice

• notably, the LV/RV weight ratio is dramatically reduced and similar to that observed in pulmonary hypertension animal models

homeostasis/metabolism

abnormal nitric oxide homeostasis ( J:78603 )

• homozygotes exhibit a 5-fold increase in plasma nitric oxide concentration, probably as a result of increased endothelial NOS activity

cellular

absent caveolae ( J:78603 )

• homozygotes show absence of caveolae invaginations in the microvascular endothelium, smooth muscle cells, lung type I epithelium, and fibroblasts

• in contrast, homozygotes show normal distribution of caveolae in the cardiac muscle cell plasma membrane

muscle

heart right ventricle hypertrophy ( J:78603 )

• homozygotes show a significant increase in RV/body weight ratio relative to age- and gender-matched wild-type mice

• notably, the LV/RV weight ratio is dramatically reduced and similar to that observed in pulmonary hypertension animal models

dilated cardiomyopathy ( J:78603 )

• homozygotes display dilated cardiomyopathy in the left ventricular chamber

decreased ventricle muscle contractility ( J:78603 )

• homozygotes show a significant reduction in both fractional shortening percentage and mean velocity of circumferential fiber shortening, indicating depressed systolic cardiac function

• in contrast, baseline right ventricle contractility and diastolic function are significantly increased