Phenotypes for Csrp3 MGI:3037157 MGI Mouse

postnatal lethality, incomplete penetrance ( J:38213 )

• 50 to 70% of mice became fatigued between 5 and 10 days of age and died 20 to 30 hours after the onset of symptoms

• mice that did not during the second postnatal week survived to adulthood and displayed a different cardiac phenotype than those that died during the second postnatal

• the penetrance of death during the second postnatal week was higher in offspring from heterozygous crosses than in offspring of either homozygous or heterozygous/homozygous crosses indicating a genetic background effect

abnormal intercalated disk morphology ( J:138969 )

• pronounced convolution of the membrane

increased myocardial fiber size ( J:138969 )

• myofibrils are somewhat disorganized

enlarged heart ( J:38213 )

• increase in total heart size

• enlargement affected all 4 chambers equally and was predominantly observed mice that died during the second week of life

increased heart weight ( J:38213 )

• increase in total heart weight

cardiac hypertrophy ( J:38213 )

• observed in both mice that died during the second week of life and in mice that survived to adulthood

dilated heart left ventricle ( J:38213 , J:66250 , J:88510 )

cardiac interstitial fibrosis ( J:38213 )

• observed in mice that survived to adulthood, but not in those that died during the second week of life

abnormal cardiovascular system physiology ( J:66250 )

• sonomicrometry shows right-shifted pressure-volume loops and depressed systolic contractility

dilated cardiomyopathy ( J:38213 , J:66250 , J:88510 )

• disruption of cardiac myofibrillar organization observed (J:38213)

• disorganization of the actin cytoskeleton and myofibrillar apparatus was detected in newborns, prior to overt myopathy (J:38213)

• histologic and ultrastructural features similar to those observed in human dilated cardiomyopathy (J:38213)

decreased cardiac muscle contractility ( J:66250 , J:88510 )

• fractional shortening is reduced from 47-55% in controls to 26-29% in mutants (J:66250)

• cardiomyocytes show a flattened hysteresis loop, showing a similar elevation of intracellular calcium but the extent of shortening is decreased, indicating reduced contractile responsiveness to intracellular calcium changes (J:66250)

• contractility of ventricle is unresponsive to beta-adrenergic receptor stimulation with dobutamine (J:66250)

decreased heart ventricle muscle contractility ( J:38213 )

abnormal heart echocardiography feature ( J:66250 )

• echocardiography in conscious and anesthetized mice indicates hearts with enlarged internal chamber dimensions (end-diastolic dimension and end-systolic dimension) and reduced fractional shortening

abnormal myocardial fiber physiology ( J:66250 )

• cardiomyocytes produce smaller intracellular calcium transients and reduced contractions for similar calcium currents

• cardiomyocytes exhibit a voltage dependent decrease in shortening and relaxation

• reduction in excitation-contraction coupling gain in cardiomyocytes, indicating that efficacy of activation of calcium sparks by calcium influx through the L-type calcium channel is reduced

congestive heart failure ( J:66250 )

• mice are in functional heart failure