The Mutation of Ednrb(c.857 T > C) Associated With Atrophied Spleen Phenotype in Mice

Background:The endothelin signaling pathway plays an important function in the migration, proliferation, and differentiation of neural crest cells. Endothelin receptor B (EDNRB) was reported to have a small spleen phenotype in its deficient mouse model .In our study, we also found that the mutation of EDNRB gene (c. 857 T > c) led to an atrophied spleen phenotype in mice. Different genotypes of EDNRB were significantly correlated with the spleen-kidney ratio, and the spleen phenotypes of Ednrbm1yzcm mice were smaller. The results of the tissue section and H&E staining showed that the spleen microstructure of Ednrbm1yzcm mice was abnormal. In order to explore the molecular mechanism, three groups of Ednrbm1yzcm and wild-type mice were used as control, and standard |log2(FoldChange)|>1 and Padj<0.05 were used to study the influence of EDNRB gene mutation on spleen transcriptional group in mice. GO and KEGG enrichment analysis was conducted to explore the signal pathway related to small spleen phenotype.Results: Through sequencing of mouse spleen transcriptome, 121 differentially expressed genes were selected. Results of the KEGG pathway enrichment analysis showed that in Ednrbm1yzcm mice, upregulated genes were significantly enriched in the Hippo signaling pathway, this pathway inhibits cell growth and modulates organs size and volume; and down-regulation of immune functionally associated pathways such as cytokine receptor interaction and chemokine signaling pathway. In addition, chemokine of Chemokine signaling pathway may also be related to the development of spleen immune tissue structure.Conclusions: In the experiment, we found that mice with mutations in the EDNRB gene have features such as an atrophied spleen and changes in the structure of the spleen. In order to explore the reasons, we performed RNA sequencing on three groups of Edrnrbm1yzcm and wild-type mice, and we found that upregulated genes were significantly enriched in the Hippo signaling pathway. And this signal Pathway is a proven signaling pathway that controls organ size and immune function, so we speculate that the size of the spleen may be related to the Hippo signaling pathway. This study provides a theoretical study of the mechanism of spleen development.

Case 5.14

20-year-old woman with a history of hemoglobinopathy Axial fat-suppressed FSE T2-weighted image (Figure 5.14.1) and axial in-phase SPGR image (Figure 5.14.2) show a small spleen with decreased T2-signal intensity and markedly decreased signal on the in-phase image. Axial postgadolinium 2D SPGR image (...

Splenic Anomalies of Shape, Size, and Location: Pictorial Essay

Spleen can have a wide range of anomalies including its shape, location, number, and size. Although most of these anomalies are congenital, there are also acquired types. Congenital anomalies affecting the shape of spleen are lobulations, notches, and clefts; the fusion and location anomalies of spleen are accessory spleen, splenopancreatic fusion, and wandering spleen; polysplenia can be associated with a syndrome. Splenosis and small spleen are acquired anomalies which are caused by trauma and sickle cell disease, respectively. These anomalies can be detected easily by using different imaging modalities including ultrasonography, computed tomography, magnetic resonance imaging, and also Tc-99m scintigraphy. In this pictorial essay, we review the imaging findings of these anomalies which can cause diagnostic pitfalls and be interpreted as pathologic processes.