Phenotypes Associated with This Genotype

Genotype
MGI:5909891

• 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

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