Symbol Name ID |
Tnnt1
troponin T1, skeletal, slow MGI:1333868 |
Darker colors indicate more annotations |
Human Phenotypes | Weakness of facial musculature |
Achilles tendon contracture |
Ankle contracture |
Hip contracture |
Scapular winging |
Shoulder girdle muscle weakness |
Foot dorsiflexor weakness |
Lower limb muscle weakness |
Quadriceps muscle weakness |
Limb-girdle muscle weakness |
Pelvic girdle muscle weakness |
Wrist flexion contracture |
Elbow contracture |
Shoulder flexion contracture |
Hypotonia |
Infantile muscular hypotonia |
Neonatal hypotonia |
EMG: myopathic abnormalities |
Difficulty climbing stairs |
Difficulty running |
Difficulty walking |
Neck flexor weakness |
Poor head control |
Progressive muscle weakness |
Proximal muscle weakness |
Gowers sign |
Respiratory insufficiency due to muscle weakness |
Type 1 muscle fiber predominance |
Z-band streaming |
Increased variability in muscle fiber diameter |
Nemaline bodies |
Skeletal muscle atrophy |
Proximal amyotrophy |
Myopathy |
Minicore myopathy |
Rhabdomyolysis |
Disease(s) Associated with TNNT1 | ||||||||||||||||||||||||||||||||||||
nemaline myopathy 5A | ||||||||||||||||||||||||||||||||||||
nemaline myopathy 5B | ||||||||||||||||||||||||||||||||||||
nemaline myopathy 5C |
Mouse Phenotypes | abnormal muscle fiber morphology |
decreased skeletal muscle fiber size |
decreased skeletal muscle fiber diameter |
skeletal muscle fiber atrophy |
increased skeletal muscle fiber diameter |
centrally nucleated skeletal muscle fibers |
abnormal skeletal muscle fiber type ratio |
abnormal skeletal muscle size |
abnormal muscle physiology |
abnormal muscle contractility |
abnormal muscle relaxation |
|
Availability | Mouse Genotype | |||||||||||
Tnnt1tm1.2Jin/Tnnt1tm1.2Jin | ||||||||||||
Tnnt1tm1Jin/Tnnt1tm1Jin |
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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