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Phenotypes Associated with This Genotype
Genotype
MGI:3037157
Allelic
Composition
Csrp3tm1Crni/Csrp3tm1Crni
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Csrp3tm1Crni mutation (0 available); any Csrp3 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• increase in total heart size
• enlargement affected all 4 chambers equally and was predominantly observed mice that died during the second week of life
• increase in total heart weight
• observed in both mice that died during the second week of life and in mice that survived to adulthood

mortality/aging
• 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

cardiovascular system
• pronounced convolution of the membrane
• myofibrils are somewhat disorganized
• increase in total heart size
• enlargement affected all 4 chambers equally and was predominantly observed mice that died during the second week of life
• increase in total heart weight
• observed in both mice that died during the second week of life and in mice that survived to adulthood
• observed in mice that survived to adulthood, but not in those that died during the second week of life
• sonomicrometry shows right-shifted pressure-volume loops and depressed systolic contractility
• 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)
• 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)
• echocardiography in conscious and anesthetized mice indicates hearts with enlarged internal chamber dimensions (end-diastolic dimension and end-systolic dimension) and reduced fractional shortening
• 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
• mice are in functional heart failure

muscle
• pronounced convolution of the membrane
• myofibrils are somewhat disorganized
• 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)
• 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)

cellular
• disorganization of the actin cytoskeleton and myofibrillar apparatus was detected in newborns, prior to overt myopathy


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/31/2023
MGI 6.22
The Jackson Laboratory