80 GIGA 2021 Annual Report www. gigazebrafishfacility. uliege.be TEAM Denis Roosen Laura Marcon MANAGER Hélène PENDEVILLE hpendeville @uliege.be KEY FIGURES 300 Tanks 7500 Fish 110 CRISPR mutants lines 90 Transgenic lines 47 Cryopreservations GIGA-ZEBRAFISH FACILITY SOME PRACTICAL IMPLEMENTATIONS COLLABORATION WITH DR MOORTGAT, Clinical geneticist, IPG We have collaborated with Dr Stéphanie Moortgat who is a clinical geneticist at the IPG (Gosselies). Dr Moortgat studied families with children with severe intellectual disability, early and severe development delay and microcephaly linked to the gene EIFS23 located on X chromosome. In an attempt to elucidate the pathogenicity of a novel missense variant in EIF2S3, CRISPR/ Cas9 knockout of eif2s3 in zebrafish were generated. The gene eif2s3 encodes the γ subunit of the eukaryotic translation initiation factor-2, eIF2, essential for protein translation. Zebrafish homozygousembryosrecapitulatethehumanmicrocephalydueto increased neuronal cell death and display beta cell and pancreatic progenitor deficiency. These results published in Moortgat et al., 2021 provided new insights into disease physiopathology of severe X-linked syndromes
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