Fig. 5
From: Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Expression and subcellular localization of P82,84 isoforms in exon-15 mice. a Relative Fxr1 mRNA quantification in gastrocnemius of 2.5-months old mice by qRT-PCR using two different TaqMan probes: Fxr1-523_m1 (exons 2-3; Mm00484523_m1) and Fxr1-304_m1 (exons 14-15; Mm01286304_m1). Values are normalized to Tbp mRNA levels and represented as fold change of the mean value of wt mice. n = 6 (wt), 3(delACAG), 3(dupA). Data are mean ± s.d. followed by one-way ANOVA (***) with Tukey post-hoc test. b Representative FXR1P immunoblot of protein extracts from gastrocnemius (soluble (SF) and insoluble (IF) fractions) of delACAG and dupA mice and corresponding wt littermates. Vinculin and α-actinin were used as loading controls (2–3 months old mice, n = 4). Brackets denote isoforms e and f and non-specific bands are labeled with asterisks. c Maximum Z-project and magnification of confocal anti-FXR1P immunofluorescence images (green) in isolated EDL fibers. n = 8(wt), 3(wt/delACAG), 8(delACAG), 6(dupA). Scale bars 5 µm. FXR1P isoforms are localized in a striated pattern except in delACAG fibers where are found predominantly in granules. Heterozygous wt/delACAG fibers contain a small number of granules (arrowheads) and the fluorescent intensity of FXR1P is reduced in dupA mice. Nuclei are labeled with propidium iodide (PI, red)
