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Symbol
Name
ID

Ttn
titin
MGI:98864

Phenotype annotations related to muscle

*	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 ventricle muscle contractility

skeletal muscle fiber necrosis

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

abnormal skeletal muscle morphology

abnormal diaphragm morphology

dystrophic muscle

muscle degeneration

abnormal muscle physiology

abnormal muscle contractility

impaired skeletal muscle contractility

progressive muscle weakness

Availability

Mouse Genotype

Ttn^em1Kage/Ttn^em1Kage

*

Ttn^mdm/Ttn^mdm

*

Ttn^shru/Ttn^shru

Ttn^tm1.1Her/Ttn^tm1.1Her

Ttn^tm1.1Hgra/Ttn^tm1.1Hgra

Ttn^tm1.1Isrd/Ttn^tm1.1Isrd

Ttn^tm1Brge/Ttn^tm1Brge

Ttn^tm1Mgot/Ttn^tm1Mgot

Ttn^tm2.1Hgra/Ttn^tm2.1Hgra

Ttn^tm2.1Mgot/Ttn^tm2.1Mgot

Ttn^tm1.1Isrd/Ttn⁺

Ttn^tm1Brge/Ttn⁺

Ttn^tm2.1Mgot/Ttn⁺

Ttn^tm1Her/Ttn^tm1Her
Tg(Ckmm-cre)5Khn/0 (conditional)

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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