Article

Cytopenias and Functional Defects in a Novel Murine Model of VPS45 Severe Congenital Neutropenia

2026-06-19

Abstract excerpt

Mutations in the VPS45 gene are associated with a rare form of severe congenital neutropenia (SCN5), a life-threatening inherited error of immunity. We developed and characterized a novel mouse model of SCN5 by CRISPR/Cas9-mediated knock-in of pathogenic VPS45 E238K and T224N mutations. Both Vps45 mutations led to decreased protein expression in bone marrow cells. In vivo phenotyping demonstrated a non-Mendeli...

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Literature Corpus work: 7e73d33c-6c93-53fd-a03d-1e39c7720a87
DOI: 10.64898/2026.06.15.732420

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