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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Mybpc3tm2.1Lcrr
targeted mutation 2.1, Lucie Carrier
MGI:4836388
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Mybpc3tm2.1Lcrr/Mybpc3tm2.1Lcrr involves: 129S2/SvPasCrl * Black Swiss MGI:5909888
hm2
 		Mybpc3tm2.1Lcrr/Mybpc3tm2.1Lcrr involves: 129S2/SvPasCrl * Black Swiss * C57BL/6 * CD-1 * DBA/2 MGI:4836398
ht3
 		Mybpc3tm2.1Lcrr/Mybpc3+ involves: 129S2/SvPasCrl * Black Swiss MGI:5909891
ht4
 		Mybpc3tm2.1Lcrr/Mybpc3+ involves: 129S2/SvPasCrl * Black Swiss * C57BL/6 * CD-1 * DBA/2 MGI:4836399


Genotype
MGI:5909888
hm1
Allelic
Composition		 Mybpc3tm2.1Lcrr/Mybpc3tm2.1Lcrr
Genetic
Background		 involves: 129S2/SvPasCrl * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mybpc3tm2.1Lcrr mutation (0 available); any Mybpc3 mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
heart left ventricle hypertrophy ( J:185726 )
• left ventricular mass-to-body weight ratio is increased indicating left ventricular hypertrophy
decreased cardiac muscle contractility ( J:185726 )
• hearts exhibit reduced fractional shortening
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 and higher E/E' ratio
abnormal heart echocardiography feature ( J:185726 )
• echocardiography indicates increased left ventricular mass-to-body weight ratio and decreased fractional shortening
abnormal myocardial fiber physiology ( J:185726 )
• skinned ventricular trabeculae exhibit higher myofilament calcium sensitivity
• cardiac myocytes exhibit lower amplitudes of twitch (sarcomere shortening) and calcium transients in response to increasing pacing frequency
• myocytes exhibit lower diastolic sarcomere length
• myocyte relaxation begins at a lower intracellular concentration of calcium than in controls
• intact myocytes exhibit faster decay of calcium transients

muscle
heart left ventricle hypertrophy ( J:185726 )
• left ventricular mass-to-body weight ratio is increased indicating left ventricular hypertrophy
decreased cardiac muscle contractility ( J:185726 )
• hearts exhibit reduced fractional shortening
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 and higher E/E' ratio

growth/size/body
heart left ventricle hypertrophy ( J:185726 )
• left ventricular mass-to-body weight ratio is increased indicating left ventricular hypertrophy

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




Genotype
MGI:4836398
hm2
Allelic
Composition		 Mybpc3tm2.1Lcrr/Mybpc3tm2.1Lcrr
Genetic
Background		 involves: 129S2/SvPasCrl * Black Swiss * C57BL/6 * CD-1 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mybpc3tm2.1Lcrr mutation (0 available); any Mybpc3 mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
increased myocardial fiber size ( J:164934 )
• myocytes are longer and slightly wider than wild-type cells
• myocyte area is increased compared to in wild-type mice
• however, sarcomere ultrastructure of ventricular myocytes is normal
increased heart weight ( J:164934 )
• heart to body weight ratio is increased compared to in wild-type mice
abnormal heart left ventricle morphology ( J:164934 )
• mice exhibit increased left ventricle mass to body weight ratio, left ventricle posterior wall thickness, and left ventricle diameter compared with wild-type mice
• however, the interventricular septum is normal
heart left ventricle hypertrophy ( J:164934 )
• left ventricle longitudinal heart cross-sections and transverse ventricular section confirming enlarged left ventricle compared to in wild-type mice

muscle
increased myocardial fiber size ( J:164934 )
• myocytes are longer and slightly wider than wild-type cells
• myocyte area is increased compared to in wild-type mice
• however, sarcomere ultrastructure of ventricular myocytes is normal
heart left ventricle hypertrophy ( J:164934 )
• left ventricle longitudinal heart cross-sections and transverse ventricular section confirming enlarged left ventricle compared to in wild-type mice

growth/size/body
heart left ventricle hypertrophy ( J:164934 )
• left ventricle longitudinal heart cross-sections and transverse ventricular section confirming enlarged left ventricle compared to in wild-type mice
increased heart weight ( J:164934 )
• heart to body weight ratio is increased compared to in wild-type mice

cellular




Genotype
MGI:5909891
ht3
Allelic
Composition		 Mybpc3tm2.1Lcrr/Mybpc3+
Genetic
Background		 involves: 129S2/SvPasCrl * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mybpc3tm2.1Lcrr mutation (0 available); any Mybpc3 mutation (43 available)
♀ 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




Genotype
MGI:4836399
ht4
Allelic
Composition		 Mybpc3tm2.1Lcrr/Mybpc3+
Genetic
Background		 involves: 129S2/SvPasCrl * Black Swiss * C57BL/6 * CD-1 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mybpc3tm2.1Lcrr mutation (0 available); any Mybpc3 mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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




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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory