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Article

Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.

Neurobiology of disease - 1 Feb 2005

Jalanko Anu, Vesa Jouni, Manninen Tuula, von Schantz Carina, Minye Helena, Fabritius Anna-Liisa, Salonen Tarja, Rapola Juhani, Gentile Massimiliano, Kopra Outi, Peltonen Leena

Abstract excerpt

Infantile Neuronal Ceroid Lipofuscinosis (INCL) results from mutations in the palmitoyl protein thioesterase (PPT1, CLN1) gene and is characterized by dramatic death of cortical neurons. We generated Ppt1Deltaex4 mice by a targeted deletion of exon 4 of the mouse Ppt1 gene. Similar to the clinical phenotype, the homozygous mutants show loss of vision from the age of 8 weeks, seizures after 4 months and paralysis...

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Source

Identifiers

PMID: 15649713
DOI: 10.1016/j.nbd.2004.08.013

Genes

PPT1

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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