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Symbol
Name
ID
Plec
plectin
MGI:1277961
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Achilles tendon contracture
Palmoplantar blistering
Palmoplantar hyperkeratosis
Palmoplantar keratoderma
Calf muscle hypertrophy
Distal lower limb muscle weakness
Proximal upper limb muscle hypertrophy
Limb-girdle muscle weakness
Pelvic girdle muscle weakness
Disease(s) Associated with PLEC
autosomal recessive limb-girdle muscular dystrophy type 2Q
epidermolysis bullosa simplex
epidermolysis bullosa simplex Ogna type
epidermolysis bullosa simplex with muscular dystrophy

Mouse Phenotypes
abnormal soleus morphology
Availability Mouse Genotype
Plectm4Gwi/Plectm4Gwi
Tg(Ckmm-cre)5Khn/?  (conditional)
Plectm1Gwi/Plectm4Gwi
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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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory