Phenotypes associated with this allele

• Allele Symbol: Mybpc3^tm1Lcrr
• Allele Name: targeted mutation 1, Lucie Carrier
• Allele ID: MGI:3606208
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mybpc3^tm1Lcrr/Mybpc3^tm1Lcrr	involves: 129S4/SvJae * Black Swiss	MGI:3608494
ht2	Mybpc3^tm1Lcrr/Mybpc3^+	involves: 129S4/SvJae * Black Swiss	MGI:3608495

Genotype
MGI:3608494

hm1

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

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

cardiovascular system

cardiac hypertrophy ( J:105732 )

• exhibit an approximately 20% hypertrophy from birth up to 6 weeks and more than 44% after 9 weeks

heart left ventricle hypertrophy ( J:101903 )

• at 3-4 months of age, mutant mice develop eccentric left ventricular hypertrophy with decreased fractional shortening

cardiac interstitial fibrosis ( J:101903 )

• myocardial disarray and an increase of interstitial fibrosis

abnormal cardiac muscle contractility ( J:105732 )

• myocytes isolated from the left ventricle have a higher calcium sensitivity at the shorter, but not longer, sarcomere lengths

• PKA stimulation of myocytes has almost no effect on the calcium sensitivity of myofilaments, unlike in wild-type that show a decrease in calcium sensitivity

decreased cardiac muscle contractility ( J:101903 )

• exhibit decreased fractional shortening

muscle

heart left ventricle hypertrophy ( J:101903 )

• at 3-4 months of age, mutant mice develop eccentric left ventricular hypertrophy with decreased fractional shortening

abnormal cardiac muscle contractility ( J:105732 )

• myocytes isolated from the left ventricle have a higher calcium sensitivity at the shorter, but not longer, sarcomere lengths

• PKA stimulation of myocytes has almost no effect on the calcium sensitivity of myofilaments, unlike in wild-type that show a decrease in calcium sensitivity

decreased cardiac muscle contractility ( J:101903 )

• exhibit decreased fractional shortening

impaired muscle relaxation ( J:101903 )

• 9 month old mutant mice show markedly impaired relaxation

growth/size/body

cardiac hypertrophy ( J:105732 )

• exhibit an approximately 20% hypertrophy from birth up to 6 weeks and more than 44% after 9 weeks

heart left ventricle hypertrophy ( J:101903 )

• at 3-4 months of age, mutant mice develop eccentric left ventricular hypertrophy with decreased fractional shortening

cellular

cardiac interstitial fibrosis ( J:101903 )

• myocardial disarray and an increase of interstitial fibrosis

Genotype
MGI:3608495

ht2

• 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