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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ttntm2.1Hgra
targeted mutation 2.1, Henk Granzier
MGI:5662236
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ttntm2.1Hgra/Ttntm2.1Hgra B6J.Cg-Ttntm2.1Hgra MGI:5770633


Genotype
MGI:5770633
hm1
Allelic
Composition
Ttntm2.1Hgra/Ttntm2.1Hgra
Genetic
Background
B6J.Cg-Ttntm2.1Hgra
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttntm2.1Hgra mutation (0 available); any Ttn mutation (1457 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• increased titin-based passive force in cardiac myocytes resulting in increased LV chamber stiffness during diastole
• increased cross-sectional area of LV cardiac myocytes
• however, cell length is unaffected
• increased left atrium weight to body weight ratio
• increased diastolic stiffness at the left ventricular chamber level; the diastolic stiffness parameter beta is increased, the deceleration time of the E wave is decreased, and the weight of the left atrium is increased
• however, no differences in heart rate or any systolic parameters are observed relative to wild-type controls
• mild concentric LV hypertrophy
• however, no hypertrophy is seen in skeletal muscle
• increased LV wall thickness

muscle
• increased titin-based passive force in cardiac myocytes resulting in increased LV chamber stiffness during diastole
• increased cross-sectional area of LV cardiac myocytes
• however, cell length is unaffected
• mild concentric LV hypertrophy
• however, no hypertrophy is seen in skeletal muscle
• the C-terminal attachment point of titin's spring region moves away from the Z disk; as a result, a given sarcomere stretch increases the extension of titin's spring region to a higher degree than in wild-type mice
• however, thick filament length is normal, as determined by A-band width measurements
• A bands appear unaltered with normal M band and bare zones

behavior/neurological
• free-wheel exercise running studies revealed that both average nightly running distance and average running speed are reduced whereas running time remains unaffected

homeostasis/metabolism
• free-wheel exercise running studies revealed that both average nightly running distance and average running speed are reduced whereas running time remains unaffected

growth/size/body
• mild concentric LV hypertrophy
• however, no hypertrophy is seen in skeletal muscle





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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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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory