Transcriptome analysis of Rtl1 maternal KO mice

The paternal allele expresses Rtl1, whereas the maternal allele produces an antisense transcript (anti-Rtl1) that is processed into seven microRNAs, which degrade Rtl1 transcripts via an RNAi mechanism. In maternal knockout mice (Mat-Rtl1Δ), loss of anti-Rtl1 leads to approximately 2–3-fold upregulation of Rtl1 expression, which has been reported to cause placental and skeletal muscle abnormalities, particularly in respiratory muscles such as the diaphragm.

To investigate the molecular basis of these phenotypes, we performed RNA-seq analysis of placental and skeletal muscle tissues at embryonic day 18.5 (E18.5) in Mat-Rtl1Δ mice. This dataset provides insights into transcriptomic alterations associated with dysregulated Rtl1 expression during placental and muscle development.