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Article

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

Genes to cells : devoted to molecular & cellular mechanisms - 1 Jun 2002

Yoshikawa Momono, Uchida Shinichi, Ezaki Junji, Rai Tatemitsu, Hayama Atsushi, Kobayashi Katsuki, Kida Yujiro, Noda Masaki, Koike Masato, Uchiyama Yasuo, Marumo Fumiaki, Kominami Eiki, Sasaki Sei

Abstract excerpt

BACKGROUND: CLC-3 is a member of the CLC chloride channel family and is widely expressed in mammalian tissues. To determine the physiological role of CLC-3, we generated CLC-3-deficient mice (Clcn3-/- ) by targeted gene disruption. RESULTS: Together with developmental retardation and higher mortality, the Clcn3-/- mice showed neurological manifestations such as blindness, motor coordination deficit, and...

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Source

Identifiers

PMID: 12059962
DOI: 10.1046/j.1365-2443.2002.00539.x

Genes

CLC
NCL

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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