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. 2024 Aug 22;15:7239. doi: 10.1038/s41467-024-51310-z

Fig. 3. Animal models of DENND5A-DEE exhibit phenotypes consistent with the human cohort.

Fig. 3

a DENND5A protein levels in WT, heterozygous (Het), and homozygous knock-in (KI) mouse brains. Results were reproduced in three independent experiments. b DENND5A mRNA levels in n = 6 mouse brains. RT-qPCR was performed in triplicate in three independent experiments. Data are mean ± SEM (two-tailed Mann-Whitney U, Z = −1.81, p = 0.077). c Sample images of in vivo 7 T MRIs. d Quantification of pooled lateral ventricle volumes obtained through segmenting n = 10 MRIs (two-tailed Mann-Whitney U, Z = −2.117, p = 0.034). Each dot represents one animal. e Quantification of relative brain volumes using MRI data from n = 10 mice (two-tailed Mann-Whitney U, Z = −1.361, p = 0.174). Each dot represents one animal. f Quantification of seizure latency after 4-AP injection in n = 5 WT and n = 6 KI mice from three independent experiments (two-tailed student’s t(9) = 3.445, p = 0.007). Each dot represents one animal. Whole-mount in situ hybridization from two independent experiments shows dennd5a mRNA expression at (g), 0.75 hpf, (h), 24 hpf, (i), 48 hpf and (j), 72 hpf. Asterisks brain, Ov otic vesicle, Le lens, RGC retinal ganglion cells, Hb hindbrain, H heart, Cm cephalic musculature. Scale bar = 0.2 mm. k Representative images of control and F0 KO zebrafish from three independent experiments. Dotted line marks the length of the head used in quantification. Scale bar = 0.2 mm. l Quantification of head size in n = 60 larvae (two-tailed Mann-Whitney U, Z = −9.206, p = 3.4 × 10−20). Each dot represents one larva. m Representative image of larva at 6 dpf immunostained with anti-SV2 (magenta) and anti-acetylated tubulin (green). Dorsal view, anterior to the left. Dotted line outlines hindbrain ventricle (HV) area used in quantification. n Quantification of hindbrain ventricle area in n = 6 larvae (two-tailed student’s t(10) = −2.564, p = 0.028). Each dot represents one larva. Source data for (a, b), (d, f), (l) and (n) are provided as a Source Data file.