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Article

Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models.

Bone - 1 Feb 2014

Alam Imranul, Gray Amie K, Chu Kang, Ichikawa Shoji, Mohammad Khalid S, Capannolo Marta, Capulli Mattia, Maurizi Antonio, Muraca Maurizio, Teti Anna, Econs Michael J, Del Fattore Andrea

Abstract excerpt

Autosomal dominant osteopetrosis type II (ADO2) is a heritable osteosclerotic disorder dependent on osteoclast impairment. In most patients it results from heterozygous missense mutations in the chloride channel 7 (CLCN7) gene, encoding for a 2Cl(-)/1H(+) antiporter. By a knock-in strategy inserting a missense mutation in the Clcn7 gene, our two research groups independently generated mouse models of ADO2 on...

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Identifiers

PMID: 24185277
DOI: 10.1016/j.bone.2013.10.021
PMCID: PMC3889206

Genes

CLCN7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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