Symbol
Name
ID

Plec
plectin
MGI:1277961

Phenotype annotations related to muscle

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Bilateral facial palsy

Achilles tendon contracture

Calf muscle hypertrophy

Distal lower limb muscle weakness

Proximal upper limb muscle hypertrophy

Limb-girdle muscle weakness

Pelvic girdle muscle weakness

Flexion contracture

Decreased cervical spine flexion due to contractures of posterior cervical muscles

EMG: myopathic abnormalities

Difficulty climbing stairs

Frequent falls

Fatigable weakness

Generalized muscle weakness

Muscle flaccidity

Progressive proximal muscle weakness

Proximal muscle weakness

Gowers sign

Axial muscle atrophy

Increased variability in muscle fiber diameter

Motheaten muscle fibers

Muscle fiber splitting

Skeletal muscle atrophy

Muscular dystrophy

Myopathy

Disease(s) Associated with PLEC

autosomal recessive limb-girdle muscular dystrophy type 2Q

epidermolysis bullosa simplex with muscular dystrophy

Mouse Phenotypes

muscle phenotype

abnormal myocardial fiber morphology

abnormal intercalated disk morphology

abnormal muscle fiber mitochondrial morphology

skeletal muscle fiber necrosis

abnormal soleus morphology

abnormal sarcolemma morphology

abnormal skeletal muscle fiber morphology

decreased skeletal muscle fiber diameter

skeletal muscle fiber atrophy

increased skeletal muscle fiber size

centrally nucleated skeletal muscle fibers

decreased skeletal muscle fiber number

decreased skeletal muscle mass

muscle degeneration

myopathy

Availability

Mouse Genotype

Plec^tm1Gwi/Plec^tm1Gwi

Plec^tm2Gwi/Plec^tm2Gwi

Plec^tm3Gwi/Plec^tm3Gwi

Plec^tm5Gwi/Plec^tm5Gwi

Plec^tm6Gwi/Plec^tm6Gwi

Plec^tm4Gwi/Plec^tm4Gwi
Tg(Ckmm-cre)5Khn/? (conditional)

Plec^tm1Gwi/Plec^tm4Gwi
Tg(Ckmm-cre)5Khn/? (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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