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Symbol
Name
ID

Gjb2
gap junction protein, beta 2
MGI:95720

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes	Dandy-Walker malformation	Coxa valga	Equinus calcaneus	Patellar hypoplasia	Knee flexion contracture	Elbow flexion contracture	Knee pain	Delayed pubic bone ossification	Osteolysis	Arthritis
Disease(s) Associated with GJB2	Dandy-Walker malformation	Coxa valga	Equinus calcaneus	Patellar hypoplasia	Knee flexion contracture	Elbow flexion contracture	Knee pain	Delayed pubic bone ossification	Osteolysis	Arthritis
autosomal dominant keratitis-ichthyosis-deafness syndrome
Vohwinkel syndrome

Mouse Phenotypes		absent mandible
Availability	Mouse Genotype	absent mandible
	Gjb2^{tm3.1(Gjb1)Kwi}/Gjb2⁺ Tg(KRT5-cre)5132Jlj/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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