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Article

An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration.

Veterinary pathology - 1 May 2011

Rajan I, Read R, Small D L, Perrard J, Vogel P

Abstract excerpt

The ubiquitously expressed chloride channel 7 (CLCN7) is present within the ruffled border of osteoclasts. Mutations in the CLCN7 gene in humans (homologous to murine Clcn7) are responsible for several types of osteopetrosis in humans, and deficiencies in CLCN7 can present with retinal degeneration and a neuronal storage disease. A previously reported Clcn7(-/-) mouse showed diffuse osteopetrosis accompanied by...

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Source

Identifiers

PMID: 20448277
DOI: 10.1177/0300985810370164

Genes

CLCN7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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