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Article

A novel Caspr mutation causes the shambling mouse phenotype by disrupting axoglial interactions of myelinated nerves.

Journal of neuropathology and experimental neurology - 1 Nov 2009

Sun Xiao-yang, Takagishi Yoshiko, Okabe Erina, Chishima Yûko, Kanou Yasuhiko, Murase Shiori, Mizumura Kazue, Inaba Mie, Komatsu Yukio, Hayashi Yoshitaka, Peles Elior, Oda Sen-ichi, Murata Yoshiharu

Abstract excerpt

The neurological mouse mutation shambling (shm) exhibits ataxia and hindlimb paresis. Positional cloning of shm showed that it encodes contactin-associated protein (Caspr), which is required for formation of the paranodal junction in myelinated nerves. The shm mutation is a TT insertion in the Caspr gene that results in a frame shift and a premature stop codon at the COOH-terminus. The truncated Caspr protein...

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PMID: 19816196
DOI: 10.1097/NEN.0b013e3181be2e96

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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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