FIGURE

Fig. 3

ID

ZDB-FIG-250417-133

Publication

Mattioli et al., 2025 - Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies

Other Figures

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Fig. 3

brf2-knocked-down zebrafish. A Touch-response test showing the percentage of the classified swimming movements upon a tactile stimulus on the tail for uninjected (Un), mock-injected (Mock), brf2-knocked down (brf2-KD) zebrafish larvae at 3 dpf. The number of tested larvae is indicated in parenthesis. B Head width (indicated by white arrows in the left panel) measurements Un-, Mock, brf2brf2-KD, and brf2-KD co-injected with human mRNA BRF2 wild-type (hBRF2-WT), Gly11Ser (hBRF2-G11S), Pro261Leu (hBRF2-P261L), Gly161* (hBRF2-G161*), Met135Asnfs*15 (hBRF2-M135Nfs*). The number of tested larvae is indicated in parenthesis. C Swimming fast velocity in the dark of Un, Mock, brf2-KD, and brf2-KD co-injected with human mRNA BRF2 wild-type (hBRF2-WT), Gly11Ser (hBRF2-G11S), Pro261Leu (hBRF2-P261L), Gly161* (hBRF2-G161*), Met135Asnfs*15 (hBRF2-M135Nfs*). D Alcian blue staining in zebrafish larvae at 5 dpf. On the left, representative ventral pictures of the Alcian blue staining showing jaw malformations of brf2-KD co-injected with human RNA BRF2 Pro261Leu (hBRF2-P261L 200 pg), Gly161* (hBRF2-G161* 200 pg), Met135Asnfs*15 (hBRF2-M135Nfs* 200 pg), and half dose of BRF2 Gly11Ser RNA (hBRF2-G11S 100 pg) compared with illustrative pictures of the normal jaw structure observed in Un, Mock, and brf2-KD co-injected with human BRF2 wildtype at normal (hBRF2-WT 200 pg) and half dosage (hBRF2-WT 100 pg) and Gly11Ser (hBRF2-G11S 200 pg). The fraction of the observed deformed jaw structure is presented in the right panel as a percentage. *** P < 0.001; ** P < 0.005; ns = not significant; § significant vs brf2- KD (P < 0.05); ¤ significant vs Mock (P < 0.05); † significant vs h BRF2 -WT (P < 0.05); α significant vs Un (P < 0.05)

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	AB + CRISPR1-brf2 + CRISPR2-brf2 + CRISPR3-brf2
Knockdown Reagents:	CRISPR1-brf2 CRISPR2-brf2 CRISPR3-brf2
Observed In:	head startle response thigmotaxis
Stage Range:	Protruding-mouth to Day 5

Phenotype Detail

Acknowledgments

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