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.