Symbol Name ID |
Gjb2
gap junction protein, beta 2 MGI:95720 |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Scarring alopecia of scalp |
Sparse eyebrow |
Sparse eyelashes |
Trichiasis |
Palmoplantar hyperkeratosis |
Honeycomb palmoplantar hyperkeratosis |
Palmoplantar keratoderma |
Recurrent cutaneous abscess formation |
Acne inversa |
Folliculitis |
Psoriasiform dermatitis |
Recurrent skin infections |
Recurrent bacterial skin infections |
Recurrent cutaneous fungal infections |
Absent axillary hair |
Absent pubic hair |
Alopecia |
Sparse hair |
Abnormality of the nail |
Abnormal toenail morphology |
Leukonychia |
Nail dysplasia |
Nail dystrophy |
Onychogryposis |
Trichilemmoma |
Hypohidrosis |
Epidermal acanthosis |
Scaling skin |
Progeroid facial appearance |
Papule |
Skin nodule |
Skin plaque |
Knuckle pad |
Hyperkeratosis |
Follicular hyperkeratosis |
Ichthyosis |
Congenital ichthyosiform erythroderma |
Neoplasm of the skin |
Squamous cell carcinoma |
Disease(s) Associated with GJB2 | |||||||||||||||||||||||||||||||||||||||
autosomal dominant keratitis-ichthyosis-deafness syndrome | |||||||||||||||||||||||||||||||||||||||
Bart-Pumphrey syndrome | |||||||||||||||||||||||||||||||||||||||
palmoplantar keratoderma-deafness syndrome | |||||||||||||||||||||||||||||||||||||||
Vohwinkel syndrome |
Mouse Phenotypes | increased keratinocyte proliferation |
impaired skin barrier function |
abnormal nail morphology |
abnormal skin morphology |
hyperkeratosis |
epidermal hyperplasia |
thick epidermis |
scaly skin |
shiny skin |
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Availability | Mouse Genotype | |||||||||
Gjb2tm2.2Kwi/Gjb2+ Tg(Pgk1-cre)1Lni/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 04/16/2024 MGI 6.23 |
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