Phenotypes associated with this allele

• Allele Symbol: Mybpc3⁺
• Allele Name: wild type
• Allele ID: MGI:2433017
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Mybpc3^tm2.1Lcrr/Mybpc3^+	involves: 129S2/SvPasCrl * Black Swiss	MGI:5909891
ht2	Mybpc3^tm2.1Lcrr/Mybpc3^+	involves: 129S2/SvPasCrl * Black Swiss * C57BL/6 * CD-1 * DBA/2	MGI:4836399
ht3	Mybpc3^tm1Lcrr/Mybpc3^+	involves: 129S4/SvJae * Black Swiss	MGI:3608495

Genotype
MGI:5909891

ht1

• Allelic Composition: Mybpc3^tm2.1Lcrr/Mybpc3⁺
• Genetic Background: involves: 129S2/SvPasCrl * Black Swiss

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

cardiovascular system

abnormal cardiac muscle relaxation ( J:185726 )

• mice exhibit diastolic dysfunction as evidenced by reduced peak early/late (E/A) blood flow velocity ratio through the mitral valve and peak early/late (E'/A') diastolic velocity ratio measured at the septal corner of the mitral annulus

• however, mice do not exhibit left ventricular hypertrophy or systolic dysfunction

abnormal myocardial fiber physiology ( J:185726 )

• skinned ventricular trabeculae exhibit higher myofilament calcium sensitivity

• intact myocytes exhibit faster decay of calcium transients

muscle

abnormal cardiac muscle relaxation ( J:185726 )

• mice exhibit diastolic dysfunction as evidenced by reduced peak early/late (E/A) blood flow velocity ratio through the mitral valve and peak early/late (E'/A') diastolic velocity ratio measured at the septal corner of the mitral annulus

• however, mice do not exhibit left ventricular hypertrophy or systolic dysfunction

abnormal myocardial fiber physiology ( J:185726 )

• skinned ventricular trabeculae exhibit higher myofilament calcium sensitivity

• intact myocytes exhibit faster decay of calcium transients

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 4		DOID:0110310	OMIM:115197	J:185726

Genotype
MGI:4836399

ht2

• Allelic Composition: Mybpc3^tm2.1Lcrr/Mybpc3⁺
• Genetic Background: involves: 129S2/SvPasCrl * Black Swiss * C57BL/6 * CD-1 * DBA/2

cardiovascular system

increased myocardial fiber size ( J:164934 )

• myocytes are wider than wild-type cells

• myocyte area is increased compared to in wild-type mice

• however, sarcomere ultrastructure of ventricular myocytes is normal

muscle

increased myocardial fiber size ( J:164934 )

• myocytes are wider than wild-type cells

• myocyte area is increased compared to in wild-type mice

• however, sarcomere ultrastructure of ventricular myocytes is normal

Genotype
MGI:3608495

ht3

• Allelic Composition: Mybpc3^tm1Lcrr/Mybpc3⁺
• Genetic Background: involves: 129S4/SvJae * Black Swiss

cardiovascular system

heart left ventricle hypertrophy ( J:101903 )

• mutant mice develop asymmetric septal hypertrophy associated with fibrosis at 10-11 month of age

growth/size/body

heart left ventricle hypertrophy ( J:101903 )

• mutant mice develop asymmetric septal hypertrophy associated with fibrosis at 10-11 month of age

muscle

heart left ventricle hypertrophy ( J:101903 )

• mutant mice develop asymmetric septal hypertrophy associated with fibrosis at 10-11 month of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 4		DOID:0110310	OMIM:115197	J:101903