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Symbol
Name
ID

Tnnt1
troponin T1, skeletal, slow
MGI:1333868

Phenotype annotations related to muscle

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

Tnnt1^tm1.2Jin/Tnnt1^tm1.2Jin

Tnnt1^tm1Jin/Tnnt1^tm1Jin

Contributing Projects: 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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