About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2654421
Allelic
Composition
Mybpc3tm1Jse/Mybpc3tm1Jse
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mybpc3tm1Jse mutation (0 available); any Mybpc3 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at 8-12 weeks, mutant hearts exhibit myocyte hypertrophy and myofibrillar disarray
• at 8-12 weeks, mutant hearts display myofibrillar disarray
• at 8 weeks, 10 of 10 homozygotes display calcification of the papillary muscles and focal lesions within the LV; in 6 mutants these changes are moderate to severe
• by 8-12 weeks, homozygotes exhibit a significantly increased left atrium diameter relative to wild-type mice (1.77 0.13 mm vs 1.53 0.08 mm, respectively)
• homozygotes are fertile, produce normal litter sizes, and survive for >1 year but exhibit visibly enlarged hearts by 8-12 weeks of age
• at 8-12 weeks, homozygotes display significantly increased total heart weights relative to wild-type mice (177.0 5.7 mg vs 113.8 3.8 mg, respectively); heart-to-body weights are also significantly increased
• at 8-12 weeks, homozygotes exhibit calcified plaques on the LV chamber walls
• at 8-12 weeks, homozygotes display significantly increased LV weights relative to wild-type mice (136.0 7.5 mg vs. 80.0 4.8 mg, respectively)
• LV-to-body weight ratios are also significantly increased whereas RV and left and right atria are of normal size and weights
• at birth (P0-P3) and throughout adulthood (>3 weeks), mutant hearts display left ventricular dilation with increased LV diastolic and systolic diameters relative to wild-type hearts; myocardial hypertrophy increases as mice mature
• by 8 weeks, homozygotes exhibit a significant increase in anterior and posterior LV wall thickness relative to wild-type mice
• at 8-12 weeks, 1 of 5 mutant hearts exhibit slight perivascular fibrosis in subendocardial papillary muscle
• at 8-12 weeks, 1 of 5 mutant hearts exhibit multifocal interstitial fibrosis
• neonatal homozygotes exhibit a progressive dilated cardiomyopathy associated with altered gene expression in cardiac tissue
• at 8-12 weeks, 3 of 5 mutant hearts show dystrophic calcification of variable extent and location
• focal LV and RV calcifications and multifocal intramural calcification are noted in 2 of 5 mutant hearts; subendocardial calcification with multifocal interstitial fibrosis is noted in 1 of 5 mutant hearts
• at birth (P0-P3) and throughout adulthood (>3 weeks), mutant hearts display reduced LV fractional shortening relative to wild-type hearts
• adult homozygotes show depressed systolic contractility with diastolic dysfunction: dP/dTmin, dP/dTratio, end-diastolic volume, time to peak filling, relaxation time (tau), and chamber compliance (normalized beta) are all abnormal

growth/size/body
• homozygotes are fertile, produce normal litter sizes, and survive for >1 year but exhibit visibly enlarged hearts by 8-12 weeks of age
• at 8-12 weeks, homozygotes display significantly increased LV weights relative to wild-type mice (136.0 7.5 mg vs. 80.0 4.8 mg, respectively)
• LV-to-body weight ratios are also significantly increased whereas RV and left and right atria are of normal size and weights
• at 8-12 weeks, homozygotes display significantly increased total heart weights relative to wild-type mice (177.0 5.7 mg vs 113.8 3.8 mg, respectively); heart-to-body weights are also significantly increased

muscle
• at 8-12 weeks, mutant hearts exhibit myocyte hypertrophy and myofibrillar disarray
• at 8-12 weeks, mutant hearts display myofibrillar disarray
• at 8 weeks, 10 of 10 homozygotes display calcification of the papillary muscles and focal lesions within the LV; in 6 mutants these changes are moderate to severe
• at 8-12 weeks, homozygotes display significantly increased LV weights relative to wild-type mice (136.0 7.5 mg vs. 80.0 4.8 mg, respectively)
• LV-to-body weight ratios are also significantly increased whereas RV and left and right atria are of normal size and weights
• neonatal homozygotes exhibit a progressive dilated cardiomyopathy associated with altered gene expression in cardiac tissue
• at birth (P0-P3) and throughout adulthood (>3 weeks), mutant hearts display reduced LV fractional shortening relative to wild-type hearts
• adult homozygotes show depressed systolic contractility with diastolic dysfunction: dP/dTmin, dP/dTratio, end-diastolic volume, time to peak filling, relaxation time (tau), and chamber compliance (normalized beta) are all abnormal
• at 12 weeks, mutant hearts display well-organized sarcomeres with regularly aligned A-bands, I-bands, and Z-lines; however, M-lines are frequently absent in sarcomeres from the LV whereas sarcomeres derived from the RV display well-defined M-lines

cellular
• at 8-12 weeks, 1 of 5 mutant hearts exhibit multifocal interstitial fibrosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 4 DOID:0110310 OMIM:115197
J:58295


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory