Heg1 gene point mutation mouse model as well as construction method and application thereof

Abstract

The invention particularly relates to a Heg1 gene point mutation mouse model as well as a construction method and application thereof. The construction method comprises the following steps: S1, constructing a targeting vector knocked in by Heg1 gene point mutation; s2, after plasmid extraction and linearization, a targeting vector is transfected to ES cells; s3, screening and identifying the positive ES cells to obtain positive clones of correct homologous recombination, and injecting the cloned positive ES cells into the blastocysts of the donor mice to obtain chimeric mice; s4, mating the chimeric mouse with the Flp mouse to obtain an F1-generation mouse, and screening to obtain an F1-generation heterozygote mouse in which Neo in the targeting vector is removed; s5, selfing the F1-generation heterozygote mice to obtain F2-generation mice, and screening to obtain recessive pure mutant mice, namely the Heg1 gene point mutation mouse model. The technical scheme provided by the embodiment of the invention can be applied to research and development of related prevention, treatment or diagnosis medicines for the premature cranial closure syndrome, and has important significance in the aspects of premature cranial closure surgery, pathogenesis of congenital heart disease treatment, treatment methods, medicine screening and the like.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular, to a Heg1 gene point mutation mouse model, a construction method and application thereof. Background technique [0002] Congenital craniosynostosis is a premature bony fusion of one or more cranial sutures, resulting in restricted growth of the cranial and brain tissues adjacent to the cranial sutures, resulting in cranial and orbital stenosis, intracranial hypertension, and craniofacial deformities. disease. Craniosynostosis is one of the most common congenital craniofacial malformations, with an incidence rate of 0.03% to 0.05% in newborns, ranking second in the incidence of common craniofacial developmental malformations (about 1 / 2000, only second to cleft lip and palate deformity). Craniosynostosis occurs in the embryonic period and gradually increases with age after birth. Craniosynostosis not only causes abnormal craniofacial skeletal development, but more seriously restricts ...

AI Technical Summary

Problems solved by technology

Craniosynostosis not only causes abnormal development of craniofacial bones, but more seriously restricts brain development in children

At present, there is no report of early

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