Phenotypes associated with this allele

• Allele Symbol: Ttn^tm1.1Hgra
• Allele Name: targeted mutation 1.1, Henk Granzier
• Allele ID: MGI:5551762
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttn^tm1.1Hgra/Ttn^tm1.1Hgra	B6.Cg-Ttn^tm1.1Hgra	MGI:5551772
hm2	Ttn^tm1.1Hgra/Ttn^tm1.1Hgra	involves: 129S6/SvEvTac * C57BL/6J	MGI:5551823

Genotype
MGI:5551772

hm1

• Allelic Composition: Ttn^tm1.1Hgra/Ttn^tm1.1Hgra
• Genetic Background: B6.Cg-Ttn^tm1.1Hgra

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

cardiovascular system

abnormal myocardial fiber morphology ( J:206712 )

• increased cellular passive stiffness as a result of increased elastic stiffness

abnormal heart left atrium morphology ( J:206712 )

• increased diameter following exercise

increased heart left atrium weight ( J:206712 )

• increased diameter following exercise

cardiac hypertrophy ( J:206712 )

• age-dependent

abnormal heart left ventricle morphology ( J:206712 )

• increased diastolic stiffness from left ventricular chamber cells

• altered trophicity with age-dependent cardiac hypertrophy

• increase in the end-diastolic pressure-volume and end-diastolic stress-volume relationships consistent with increased left ventricle stiffness

homeostasis/metabolism

impaired exercise endurance ( J:206712 )

• decreased running distance at 12 months using a voluntary wheel running that is worse than in younger mice

behavior/neurological

impaired exercise endurance ( J:206712 )

• decreased running distance at 12 months using a voluntary wheel running that is worse than in younger mice

muscle

abnormal myocardial fiber morphology ( J:206712 )

• increased cellular passive stiffness as a result of increased elastic stiffness

growth/size/body

cardiac hypertrophy ( J:206712 )

• age-dependent

Genotype
MGI:5551823

hm2

• Allelic Composition: Ttn^tm1.1Hgra/Ttn^tm1.1Hgra
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

muscle

decreased soleus weight ( J:206713 )

skeletal muscle fiber atrophy ( J:206713 )

• atrophy affects slow fibers more than fast fibers

abnormal diaphragm morphology ( J:206713 )

• decreased muscle mass

abnormal muscle contractility ( J:206713 )

• soleus muscles exhibit decreased twitch force, increased resistant to fatigue and increased passive stress compared with wild-type muscles

• extensor digitorum longus exhibit increased passive stress compared with wild-type muscles

skeleton

kyphosis ( J:206713 )

• mild

limbs/digits/tail

decreased soleus weight ( J:206713 )