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Article

Clcn7F318L/+ as a new mouse model of Albers-Schönberg disease.

Bone - 1 Dec 2017

Caetano-Lopes J, Lessard S G, Hann S, Espinoza K, Kang K S, Lim K E, Horan D J, Noonan H R, Hu D, Baron R, Robling A G, Warman M L

Abstract excerpt

Dominant negative mutations in CLCN7, which encodes a homodimeric chloride channel needed for matrix acidification by osteoclasts, cause Albers-Schönberg disease (also known as autosomal dominant osteopetrosis type 2). More than 25 different CLCN7 mutations have been identified in patients affected with Albers-Schönberg disease, but only one mutation (Clcn7G213R) has been introduced in mice to create an animal...

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Source

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Identifiers

PMID: 28942122
DOI: 10.1016/j.bone.2017.09.007
PMCID: PMC5752150

Genes

CLCN7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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