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Fig. 4 | Human Genomics

Fig. 4

From: Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

Fig. 4

In situ hybridization images of tbxta (no tail, Brachyury) expression in uninjected wild-type controls (A), wild-type msgn1 RNA (B) and mutant msgn1 RNA p.(Arg71Leu) in zebrafish (≈ p.(Arg125Leu) in humans) injected embryos (C). D Quantification of tbxta ISH signal in posterior PSM cells (orange ROI mark) is shown by normalized intensity comparison between the three groups of three independent experiments (WT (uninjected): 49 embryos; + msgn1 (WT) RNA: 58 embryos; + msgn1 p.(Arg71Leu) RNA: 54 embryos). Mosaic transient-transgenic overexpression of wild-type msgn1 results in partial disruption of Notch signals in PSM cells (E) and influences normal notochord (marked with dashed lines) and pectoral fin bud development (marked with arrow). F In vivo images show representative embryos of three independent injections experiments (overall: 37 imaged embryos; WT: 5 embryos; + msgn1 mosaic: 32 embryos). ISH signal quantification values and injection statistics are given in Additional file 1: Excel file S1

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Human Genomics

ISSN: 1479-7364