Symbol Name ID |
Plec
plectin MGI:1277961 |
Darker colors indicate more annotations |
Human Phenotypes | Bilateral facial palsy |
Dysphagia |
Oculomotor nerve palsy |
Frequent falls |
Fatigable weakness |
Echolalia |
Aphasia |
Mutism |
Areflexia |
Loss of ambulation |
Global developmental delay |
Motor delay |
Delayed gross motor development |
Disease(s) Associated with PLEC | |||||||||||||
autosomal recessive limb-girdle muscular dystrophy type 2Q | |||||||||||||
epidermolysis bullosa simplex with muscular dystrophy |
Mouse Phenotypes | abnormal axon morphology |
decreased nerve conduction velocity |
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Availability | Mouse Genotype | ||
Plec/Parp10tm1.1Gwi/Plec/Parp10tm1.1Gwi | |||
Plectm4Gwi/Plectm4.1Gwi Tg(Nes-cre)1Kln/0 (conditional) |
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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