Authorea
DOI: 10.22541/au.158359590.04835599
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A CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skeletal developmental defects in humans

Abstract: Loss-of-function mutations in the COL2A1 gene were recently described as a cause of type II collagenopathy, a major subgroup of genetic skeletal diseases. However, the pathogenic mechanisms associated with COL2A1 mutations remain unclear, and there are few large-mammal models of these diseases. In this study, we established a swine model carrying COL2A1 mutations using CRISPR/Cas9 and somatic cell nuclear transfer technologies. Animals mutant for COL2A1 exhibited severe skeletal dysplasia characterized by shor… Show more

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