Article

Mis-splicing of <i>Mdm2</i> leads to Increased P53-Activity and Craniofacial Defects in a MFDM <i>Eftud2</i> Mutant Mouse Model

2020-09-22

Abstract excerpt

<h4>Summary</h4> EFTUD2, a GTPase and core component of the splicesome, is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM). We generated a mutant mouse line with conditional mutation in Eftud2 and used Wnt1-Cre2 to delete it in neural crest cells. Homozygous deletion of Eftud2 leads to neural crest cell death and malformations in the brain and craniofacial region of embryos. RNAseq...

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Literature Corpus work: e3f0404a-1760-507c-adf5-eabc00f9e69a
DOI: 10.1101/2020.09.22.308205

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