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Symbol Name ID |
Gjb2
gap junction protein, beta 2 MGI:95720 |
| Darker colors indicate more annotations |
| Human Phenotypes | Scarring alopecia of scalp |
Dandy-Walker malformation |
Abnormal facial shape |
Prominent forehead |
Angular cheilitis |
Lip fissure |
Gingivitis |
Oral leukoplakia |
Cleft palate |
Furrowed tongue |
Abnormality of the dentition |
Microdontia |
Neoplasm of the tongue |
Conjunctivitis |
Keratoconjunctivitis sicca |
Sparse eyebrow |
Sparse eyelashes |
Trichiasis |
Posterior blepharitis |
Aplastic/hypoplastic lacrimal glands |
| Disease(s) Associated with GJB2 | ||||||||||||||||||||
| autosomal dominant keratitis-ichthyosis-deafness syndrome | ||||||||||||||||||||
| Vohwinkel syndrome |
| Mouse Phenotypes | absent mandible |
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| Availability | Mouse Genotype | |
| Gjb2tm3.1(Gjb1)Kwi/Gjb2+ Tg(KRT5-cre)5132Jlj/0 (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 04/09/2024 MGI 6.23 |
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