Fig. 3: Nemf D106* mice display perinatal neurodegeneration and lethality. | Nature Communications

Fig. 3: Nemf D106* mice display perinatal neurodegeneration and lethality.

From: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Fig. 3: Nemf D106* mice display perinatal neurodegeneration and lethality.

a Western blot analysis of brain lysates from 10-day-old wild-type (WT), and Nemf D106* hetero- and homozygous mice using anti-NEMF antibody, and anti-GAPDH antibody as loading control. b Eleven-day-old D106* homozygous mice are smaller than WT littermates. Mutant mice display wasting and are unable to upright themselves at this timepoint. c Body weight of WT (green circle, n = 8 day 1, n = 5 days 7 and 11) and D106* homozygous (purple circle, n = 4 days 1 and 7, n = 7 day 11) mice for WT vs. D106* at each 1, 7, and 11 days of age, respectively (n.s.p > 0.9999, ****p < 0.0001, ****p < 0.0001). Mean ± SD is indicated. Statistical analysis was performed by two-way ANOVA followed by Sidak’s multiple comparison. d D106* mice have shortened lifespan. Kaplan–Meier survival curves of D106* homozygous (purple line, n = 9; median survival: 11 days) and WT (green line, n = 9) mice p = 0.0022. Statistical analysis was performed by Log-rank (Mantel–Cox) test with two-tailed p value reported (e), myelinated axon numbers from whole cross-sections of femoral nerve motor branches in 9- to 11-day-old WT and D106* homozygous mice. For motor (WT: n = 3; Nemf D106*: n = 4, ****p < 0.0001) and sensory (WT: n = 3; Nemf D106*: n = 6, **p = 0.0031). Individual data points and mean ± SD are indicated. Statistical analysis was performed by a two-sided unpaired t test. Source data for c, e are provided as a source data file.

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