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Article

The harlequin mouse mutation downregulates apoptosis-inducing factor.

Nature - 26 Sept 2002

Klein Jeffrey A, Longo-Guess Chantal M, Rossmann Marlies P, Seburn Kevin L, Hurd Ronald E, Frankel Wayne N, Bronson Roderick T, Ackerman Susan L

Abstract excerpt

Harlequin (Hq) mutant mice have progressive degeneration of terminally differentiated cerebellar and retinal neurons. We have identified the Hq mutation as a proviral insertion in the apoptosis-inducing factor (Aif) gene, causing about an 80% reduction in AIF expression. Mutant cerebellar granule...

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PMID: 12353028
DOI: 10.1038/nature01034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12353028-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The harlequin mouse mutation downregulates apoptosis-inducing factor.PMID 12353028Read ↗

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