|
Symbol Name ID |
Plec
plectin MGI:1277961 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Bruising susceptibility |
Scarring alopecia of scalp |
Oral mucosal blisters |
Palmoplantar blistering |
Palmoplantar hyperkeratosis |
Palmoplantar keratoderma |
Alopecia |
Hypoplastic fingernail |
Dystrophic toenail |
Nail dysplasia |
Hyperconvex fingernails |
Ridged nail |
Nail dystrophy |
Onychogryposis |
Onychogryposis of toenails |
Abnormality of the skin |
Abnormal blistering of the skin |
Acral blistering |
Intra-epidermal blistering |
Stratum basale cleavage |
Abnormal dermoepidermal hemidesmosome morphology |
Hypoplastic dermoepidermal hemidesmosomes |
Hypermelanotic macule |
Fragile skin |
Skin fragility with non-scarring blistering |
Aplasia/Hypoplasia of the skin |
Dermal atrophy |
Atrophic scars |
Hypopigmented macule |
Milia |
Papule |
Skin erosion |
Skin vesicle |
| 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 | integument phenotype |
impaired skin barrier function |
abnormal dermal layer morphology |
abnormal epidermis stratum basale morphology |
absent epidermis stratum basale |
abnormal keratinocyte morphology |
dermal-epidermal separation |
blistering |
skin detachment |
skin lesions |
abnormal skin condition |
abnormal keratinocyte physiology |
abnormal skin exfoliation |
|
| Availability | Mouse Genotype | |||||||||||||
| Plectm1Gwi/Plectm1Gwi | ||||||||||||||
| Plectm2Gwi/Plectm2Gwi | ||||||||||||||
| Plectm3Gwi/Plectm3Gwi | * | |||||||||||||
| Plectm7.1Gwi/Plectm7.1Gwi | ||||||||||||||
| Plectm7.1Gwi/Plec+ | ||||||||||||||
| Plectm4Gwi/Plectm4Gwi Tg(KRT5-cre)1Tak/? (conditional) |
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| Plectm2Gwi/Plectm4Gwi Tg(Krt1-5-cre/ERT)1Ipc/? (conditional) |
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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 04/16/2024 MGI 6.23 |
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