Phenotypes associated with this allele

• Allele Symbol: Mybpc3^tm1Rmos
• Allele Name: targeted mutation 1, Richard L Moss
• Allele ID: MGI:3526881
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mybpc3^tm1Rmos/Mybpc3^tm1Rmos	either: (involves: 129) or (involves: 129 * C57BL/6)	MGI:3527229
hm2	Mybpc3^tm1Rmos/Mybpc3^tm1Rmos	involves: 129	MGI:5523784

Genotype
MGI:3527229

hm1

• Allelic Composition: Mybpc3^tm1Rmos/Mybpc3^tm1Rmos
• Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6)

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

cardiovascular system

abnormal heart morphology ( J:95725 )

myocardial fiber disarray ( J:95725 )

• myocyte disarray and loss of the close lateral alignment of myofibrils are seen

cardiac hypertrophy ( J:95725 )

• heart to body weight ratios are increased as is the thickness of the anterior and posterior walls

• hypertrophy is seen in 3 week old homozygotes

dilated heart left ventricle ( J:95725 )

cardiac interstitial fibrosis ( J:95725 )

• foci of interstitial fibrosis were seen in 3 out of 5 homozygotes

decreased cardiac muscle contractility ( J:95725 )

• Ca²⁺ sensitivity of tension is reduced in myocytes from mutant hearts

decreased ventricle muscle contractility ( J:95725 )

• left ventricular fractional shortening is significantly reduced

abnormal myocardial fiber physiology ( J:109391 )

• skinned cardiomyocytes from homozygotes exhibit faster loaded shortening velocities, greater power output, and increased force redevelopment rates, due to increased crossbridge interaction kinetics resulting from absence of myosin head constraints

• peak normalized power output is increased by 26% in mutant cardiomyocytes during maximal Ca²⁺ activations

• peak power output is increased to an even greater extent (46%) during half-maximal Ca²⁺ activations

• the rate constant of force redevelopment (k_tr) is unaltered during maximal Ca²⁺ activations; however, k_tr at half-maximal Ca²⁺ activation is significantly greater in mutant cardiomyocytes relative to wild-type

cardiomyopathy ( J:95725 )

• hypertrophic cardiomyopathy is seen

growth/size/body

cardiac hypertrophy ( J:95725 )

• heart to body weight ratios are increased as is the thickness of the anterior and posterior walls

• hypertrophy is seen in 3 week old homozygotes

muscle

myocardial fiber disarray ( J:95725 )

• myocyte disarray and loss of the close lateral alignment of myofibrils are seen

decreased cardiac muscle contractility ( J:95725 )

• Ca²⁺ sensitivity of tension is reduced in myocytes from mutant hearts

decreased ventricle muscle contractility ( J:95725 )

• left ventricular fractional shortening is significantly reduced

cardiomyopathy ( J:95725 )

• hypertrophic cardiomyopathy is seen

cellular

cardiac interstitial fibrosis ( J:95725 )

• foci of interstitial fibrosis were seen in 3 out of 5 homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 4		DOID:0110310	OMIM:115197	J:95725

Genotype
MGI:5523784

hm2

• Allelic Composition: Mybpc3^tm1Rmos/Mybpc3^tm1Rmos
• Genetic Background: involves: 129

cardiovascular system

dilated heart left ventricle ( J:202199 )

decreased ventricle muscle contractility ( J:202199 )

• decreased ejection fraction, increased left ventricle posterior wall thickness, decreased isovolumic relaxation time and increased left ventricle internal diameter

increased response of heart to induced stress ( J:202199 )

• following transaortic constriction, tamoxifen-treated mice exhibit increased left ventricle wall thickness, increased left ventricle internal dimension and reduced fractional shortening compared with control mice

homeostasis/metabolism

increased response of heart to induced stress ( J:202199 )

• following transaortic constriction, tamoxifen-treated mice exhibit increased left ventricle wall thickness, increased left ventricle internal dimension and reduced fractional shortening compared with control mice

muscle

decreased ventricle muscle contractility ( J:202199 )

• decreased ejection fraction, increased left ventricle posterior wall thickness, decreased isovolumic relaxation time and increased left ventricle internal diameter