Article

A Mouse Model of Brittle Cornea Syndrome caused by mutation in <i>Zfp469</i>

2021-07-09

Abstract excerpt

Brittle Cornea Syndrome (BCS) is a rare recessive condition characterised by extreme thinning of the cornea and sclera. BCS results from loss-of-function mutations in the poorly understood genes ZNF469 or PRDM5 . In order to determine the function of ZNF469 and to elucidate pathogenic mechanisms, we used genome editing to recapitulate a human ZNF469 BCS mutation in the orthologous mouse gene, Zfp469 . Ophthalm...

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Literature Corpus work: aa6645f0-a196-5ad6-bb20-0960b6bb8e4f
DOI: 10.1101/2021.07.08.451591

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