Symbol Name ID |
Ttn
titin MGI:98864 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Weakness of facial musculature |
Achilles tendon contracture |
Calf muscle hypertrophy |
Peroneal muscle atrophy |
Tibialis muscle weakness |
Scapular winging |
Shoulder girdle muscle weakness |
Foot dorsiflexor weakness |
Proximal muscle weakness in lower limbs |
Quadriceps muscle weakness |
Pelvic girdle muscle weakness |
Distal upper limb muscle weakness |
Increased muscle lipid content |
Joint contracture |
EMG: myopathic abnormalities |
Difficulty climbing stairs |
Difficulty running |
Difficulty walking |
Frequent falls |
Ankle weakness |
Diaphragmatic weakness |
Distal muscle weakness |
Generalized muscle weakness |
Neck flexor weakness |
Proximal muscle weakness |
Respiratory insufficiency due to muscle weakness |
Type 1 muscle fiber predominance |
Internally nucleated skeletal muscle fibers |
Increased variability in muscle fiber diameter |
Centrally nucleated skeletal muscle fibers |
Hypertrophied muscle fibers |
Increased endomysial connective tissue |
Muscle fiber splitting |
Rimmed vacuoles |
Skeletal muscle atrophy |
Tibialis anterior muscle atrophy |
Fatty replacement of skeletal muscle |
Muscular dystrophy |
Myopathy |
Minicore myopathy |
Myofibrillar myopathy |
Necrotizing myopathy |
Disease(s) Associated with TTN | ||||||||||||||||||||||||||||||||||||||||||
autosomal recessive limb-girdle muscular dystrophy type 2J | ||||||||||||||||||||||||||||||||||||||||||
congenital myopathy 5 | ||||||||||||||||||||||||||||||||||||||||||
myofibrillar myopathy 9 | ||||||||||||||||||||||||||||||||||||||||||
tibial muscular dystrophy |
Mouse Phenotypes | muscle phenotype |
abnormal myocardium layer morphology |
abnormal myocardial fiber morphology |
increased myocardial fiber size |
abnormal myocardial trabeculae morphology |
trabecula carnea hypoplasia |
thin myocardium |
heart left ventricle hypertrophy |
dilated cardiomyopathy |
abnormal cardiac muscle contractility |
decreased cardiac muscle contractility |
decreased heart ventricle muscle contractility |
decreased heart left ventricle muscle contractility |
myositis |
abnormal quadriceps morphology |
abnormal limb muscle morphology |
abnormal gastrocnemius morphology |
abnormal soleus morphology |
decreased soleus weight |
abnormal tibialis anterior morphology |
abnormal sarcomere morphology |
abnormal M line morphology |
skeletal muscle fiber atrophy |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
skeletal muscle fiber necrosis |
abnormal skeletal muscle morphology |
abnormal diaphragm morphology |
dystrophic muscle |
muscle degeneration |
abnormal muscle physiology |
abnormal muscle contractility |
impaired skeletal muscle contractility |
progressive muscle weakness |
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Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||
Ttnem1Kage/Ttnem1Kage | * | ||||||||||||||||||||||||||||||||||
Ttnmdm/Ttnmdm | * | ||||||||||||||||||||||||||||||||||
Ttnshru/Ttnshru | |||||||||||||||||||||||||||||||||||
Ttntm1.1Her/Ttntm1.1Her | |||||||||||||||||||||||||||||||||||
Ttntm1.1Hgra/Ttntm1.1Hgra | |||||||||||||||||||||||||||||||||||
Ttntm1.1Isrd/Ttntm1.1Isrd | |||||||||||||||||||||||||||||||||||
Ttntm1Brge/Ttntm1Brge | |||||||||||||||||||||||||||||||||||
Ttntm1Mgot/Ttntm1Mgot | |||||||||||||||||||||||||||||||||||
Ttntm2.1Hgra/Ttntm2.1Hgra | |||||||||||||||||||||||||||||||||||
Ttntm2.1Mgot/Ttntm2.1Mgot | |||||||||||||||||||||||||||||||||||
Ttntm1.1Isrd/Ttn+ | |||||||||||||||||||||||||||||||||||
Ttntm1Brge/Ttn+ | |||||||||||||||||||||||||||||||||||
Ttntm2.1Mgot/Ttn+ | |||||||||||||||||||||||||||||||||||
Ttntm1Her/Ttntm1Her Tg(Ckmm-cre)5Khn/0 (conditional) |
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 08/02/2024 MGI 6.24 |
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