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Phenotypes Associated with This Genotype
Genotype
MGI:5907446
Allelic
Composition
Cap2tm1e(EUCOMM)Wtsi/Cap2tm1e(EUCOMM)Wtsi
Genetic
Background
C57BL/6N-Cap2tm1e(EUCOMM)Wtsi
Cell Lines EPD0155_4_D07
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cap2tm1e(EUCOMM)Wtsi mutation (0 available); any Cap2 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 25 of 40 males die between 1 and 70 days after birth
• females show a life span up to 12-14 months after which survival decreases rapidly
• however, mice are born at normal Mendelian ratios
• 25 of 40 males die between 1 and 70 days after birth

growth/size/body
• females exhibit an average weight reduction of about 30-40%
• males exhibit an average weight reduction of 40-45%

cardiovascular system
• hearts show areas with deposition of desmin aggregates and troponin-I aggregates
• however, embryos do not exhibit heart abnormalities
• 2-6 month old myocardium shows higher numbers of apoptotic cells
• reduction in number of myofibrils in heart muscle cells and missing of the dark zone and the narrowed banding pattern
• reduced number of myofibrils in heart muscle cells
• thinning of the ventricular myocardium
• severe dilation of both ventricles seen from 40 days onwards
• fibrosis is seen in the ventricles at 6 months of age but not at 2 months
• prolonged PQ interval at equal P-wave length
• parameters for intraventricular conduction times (QRS time and QT time) are prolonged
• parameters for intraventricular conduction times (QRS time and QT time) are prolonged
• the slack sarcomere length is reduced in left ventricular myofibrils and highly reduced in right ventricular myofibrils
• a higher tension is required for stretching a ventricular myofibril to a certain sarcomere length than in wild-type myofibrils
• myofibrils show a slight decrease in the calcium sensitivity of force development

muscle
• 2-6 month old myocardium shows higher numbers of apoptotic cells
• reduction in number of myofibrils in heart muscle cells and missing of the dark zone and the narrowed banding pattern
• reduced number of myofibrils in heart muscle cells
• thinning of the ventricular myocardium
• cardiac tissue shows mixed sarcomeric organization, with some areas containing well-formed sarcomeres and other areas with disarrayed sarcomeres
• skeletal muscle shows disorganized sarcomeres
• severe disarray of sarcomeres in ventricular myocardium
• length of sarcomeres is reduced with the M-lines and I-bands almost indistinguishable
• M-line is severely disturbed in sarcomeres of cardiac tissues
• M-lines are almost indistinguishable in the ventricular myocardium
• I-bands are almost indistinguishable in the ventricular myocardium

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dilated cardiomyopathy DOID:12930 OMIM:PS115200
J:226742


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
03/19/2024
MGI 6.23
The Jackson Laboratory