Phenotypes associated with this allele

• Allele Symbol: Rbm20^tm1Hgra
• Allele Name: targeted mutation 1, Henk Granzier
• Allele ID: MGI:5551818
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rbm20^tm1Hgra/Rbm20^tm1Hgra	involves: C57BL/6	MGI:5551822
ht2	Rbm20^tm1Hgra/Rbm20^+	involves: C57BL/6	MGI:5566533

Genotype
MGI:5551822

hm1

• Allelic Composition: Rbm20^tm1Hgra/Rbm20^tm1Hgra
• Genetic Background: involves: C57BL/6

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

cardiovascular system

cardiovascular system phenotype ( J:208676 )

N • anesthetized mice exhibit normal blood pressure

N • mice exhibit normal chamber geometry and dimensions

abnormal myocardial fiber morphology ( J:208676 )

• longer slack sarcomere length in myocytes in a relaxing solution

• reduced passive and titin-based diastolic stiffness

abnormal heart left ventricle morphology ( J:208676 )

• prolonged deceleration time of the E wave suggests a reduced diastolic left ventricular chamber stiffness

cardiac fibrosis ( J:208676 )

decreased cardiac stroke volume ( J:208676 )

• in conscious mice

• however, anesthetized mice exhibit normal contractility

decreased cardiac muscle contractility ( J:208676 )

• in conscious mice

• reduced Frank-Starling mechanism

• greater decrease in fractional shortening in phenylephrine-treated mice

• however, anesthetized mice exhibit normal contractility

muscle

abnormal myocardial fiber morphology ( J:208676 )

• longer slack sarcomere length in myocytes in a relaxing solution

• reduced passive and titin-based diastolic stiffness

decreased cardiac muscle contractility ( J:208676 )

• in conscious mice

• reduced Frank-Starling mechanism

• greater decrease in fractional shortening in phenylephrine-treated mice

• however, anesthetized mice exhibit normal contractility

abnormal sarcomere morphology ( J:208676 )

• longer slack sarcomere length in myocytes in a relaxing solution

Genotype
MGI:5566533

ht2

• Allelic Composition: Rbm20^tm1Hgra/Rbm20⁺
• Genetic Background: involves: C57BL/6

cardiovascular system

abnormal myocardial fiber morphology ( J:208676 )

• reduced stiffness

abnormal heart left ventricle morphology ( J:208676 )

• prolonged deceleration time of the E wave suggests a reduced diastolic left ventricular chamber stiffness

muscle

abnormal myocardial fiber morphology ( J:208676 )

• reduced stiffness