Phenotypes associated with this allele

• Allele Symbol: Cap2^{tm1e(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1e, Wellcome Trust Sanger Institute
• Allele ID: MGI:5776537
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cap2^tm1e(EUCOMM)Wtsi/Cap2^tm1e(EUCOMM)Wtsi	C57BL/6N-Cap2^tm1e(EUCOMM)Wtsi	MGI:5907446

Genotype
MGI:5907446

hm1

• Allelic Composition: Cap2^{tm1e(EUCOMM)Wtsi}/Cap2^{tm1e(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Cap2^{tm1e(EUCOMM)Wtsi}
• Cell Lines: EPD0155_4_D07

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

mortality/aging

premature death ( J:226742 )

• 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

postnatal lethality, incomplete penetrance ( J:226742 )

♂ • 25 of 40 males die between 1 and 70 days after birth

growth/size/body

enlarged heart ( J:226742 )

decreased body weight ( J:226742 )

• females exhibit an average weight reduction of about 30-40%

• males exhibit an average weight reduction of 40-45%

cardiovascular system

abnormal heart morphology ( J:226742 )

• hearts show areas with deposition of desmin aggregates and troponin-I aggregates

• however, embryos do not exhibit heart abnormalities

abnormal myocardium layer morphology ( J:226742 )

• 2-6 month old myocardium shows higher numbers of apoptotic cells

abnormal myocardial fiber morphology ( J:226742 )

• reduction in number of myofibrils in heart muscle cells and missing of the dark zone and the narrowed banding pattern

decreased myocardial fiber number ( J:226742 )

• reduced number of myofibrils in heart muscle cells

abnormal ventricle myocardium morphology ( J:226742 )

• thinning of the ventricular myocardium

dilated heart atrium ( J:226742 )

dilated heart right atrium ( J:226742 )

enlarged heart ( J:226742 )

dilated heart ventricle ( J:226742 )

• severe dilation of both ventricles seen from 40 days onwards

cardiac fibrosis ( J:226742 )

• fibrosis is seen in the ventricles at 6 months of age but not at 2 months

dilated cardiomyopathy ( J:226742 )

decreased heart rate ( J:226742 )

prolonged PQ interval ( J:226742 )

• prolonged PQ interval at equal P-wave length

prolonged QRS complex duration ( J:226742 )

• parameters for intraventricular conduction times (QRS time and QT time) are prolonged

prolonged QT interval ( J:226742 )

• parameters for intraventricular conduction times (QRS time and QT time) are prolonged

abnormal myocardial fiber physiology ( J:226742 )

• 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

abnormal myocardium layer morphology ( J:226742 )

• 2-6 month old myocardium shows higher numbers of apoptotic cells

abnormal myocardial fiber morphology ( J:226742 )

• reduction in number of myofibrils in heart muscle cells and missing of the dark zone and the narrowed banding pattern

decreased myocardial fiber number ( J:226742 )

• reduced number of myofibrils in heart muscle cells

abnormal ventricle myocardium morphology ( J:226742 )

• thinning of the ventricular myocardium

dilated cardiomyopathy ( J:226742 )

abnormal sarcomere morphology ( J:226742 )

• 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

abnormal M line morphology ( J:226742 )

• M-line is severely disturbed in sarcomeres of cardiac tissues

• M-lines are almost indistinguishable in the ventricular myocardium

abnormal I band morphology ( J:226742 )

• 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