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Article

A mouse model of brittle cornea syndrome caused by mutation in Zfp469.

Disease models & mechanisms - 1 Sept 2021

Stanton Chloe M, Findlay Amy S, Drake Camilla, Mustafa Mohammad Z, Gautier Philippe, McKie Lisa, Jackson Ian J, Vitart Veronique

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. Ophthalmic...

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Identifiers

PMID: 34368841
DOI: 10.1242/dmm.049175
PMCID: PMC8476817

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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