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Symbol
Name
ID

Gjb2
gap junction protein, beta 2
MGI:95720

Phenotype annotations related to integument

!	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
Availability	Mouse Genotype
	Gjb2^tm2.2Kwi/Gjb2⁺ Tg(Pgk1-cre)1Lni/0 (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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