Construction and application of Primrose syndrome non-human animal model

By introducing the c.1787 A>G point mutation of the Zbtb20 gene into a mouse model, a Primrose syndrome animal model was constructed, which solved the problem of lack of simulated disease characteristics in existing technologies and enabled in-depth research on pathophysiological mechanisms and therapeutic intervention.

CN122030337APending Publication Date: 2026-05-15THE NAVAL MEDICAL UNIV OF PLA
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Patent Information

Application Number
CN202610243286.9
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2026-03-02
Publication Date
2026-05-15

AI Technical Summary

Technical Problem

The lack of animal models that can adequately mimic the disease characteristics of Primrose syndrome has resulted in a poor understanding of the pathophysiological mechanisms of this syndrome.

Method used

A mouse model with the c.1787 A>G point mutation in the Zbtb20 gene was established. The c.1787 A>G point mutation was introduced into fertilized eggs using CRISPR/Cas9 technology to construct a non-human animal model of Primrose syndrome. Its phenotypic characteristics and related mechanisms were systematically analyzed.

Benefits of technology

It provides a reliable animal model, reveals the pathological features and pathogenesis of Primrose syndrome, provides experimental basis for diagnosis and treatment, and simulates the clinical manifestations of patients, such as memory dysfunction, anxiety-like behavior and overgrowth phenotypes.

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Abstract

The invention discloses construction and application of a Primrose syndrome non-human animal model, and belongs to the technical field of animal models and disease research. According to the invention, through a CRISPR / Cas9 technology, a codon CAC for coding 596th histidine in a No.14 exon of a mouse Zbtb20 gene is subjected to site-directed mutagenesis into CGC for coding arginine, and a hybrid mouse model for simulating pathogenic point mutation (p.H596R) of human Primrose syndrome is constructed. The model can stably reproduce key clinical phenotypes of the Primrose syndrome, including overgrowth after adult, serum IGF-1 rise, memory dysfunction and anxiety behaviors, and shows abnormal hippocampal neuronal development and synaptic transfer related pathways and the like. The invention provides an important experimental tool for deeply revealing the pathological mechanism of Primrose syndrome, developing drug screening and treatment intervention research and the like.
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