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Article

Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease.

Bone - 1 Jan 2017

Alam Imranul, McQueen Amie K, Acton Dena, Reilly Austin M, Gerard-O'Riley Rita L, Oakes Dana K, Kasipathi Charishma, Huffer Abigail, Wright Weston B, Econs Michael J

Abstract excerpt

Autosomal dominant osteopetrosis type II (ADO2) is a heritable osteosclerotic bone disorder due to dysfunctional osteoclast activity. ADO2 is caused by missense mutations in the chloride channel 7 (CLCN7) gene characterized by osteosclerosis with multiple fractures. ADO2 can result in osteomyelitis, visual loss and bone marrow failure. Currently, there is no cure for ADO2, and until recently no appropriate animal...

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Identifiers

PMID: 27746321
DOI: 10.1016/j.bone.2016.10.016

Genes

CLCN7

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