New publication: Knockout of the gene encoding the ECM protein SNED1 results in early neonatal lethality and craniofacial malformations

Post date: Oct 4, 2020 7:49:12 PM

In this study, we report the generation and characterization of a Sned1 KO mouse model and show that Sned1 is essential since its homozygous ablation led to early neonatal lethality. Phenotypic analysis of the surviving KO mice revealed a role for SNED1 in the development of craniofacial and skeletal structures since Sned1 knockout results in growth defects, nasal cavity occlusion, and craniofacial malformations. Sned1 is widely expressed in embryos, notably by cell populations undergoing EMT transition such as the neural crest cells. We further show that mice with a neural‐crest‐cell‐specific deletion of Sned1 survive, but display facial anomalies partly phenocopying those presented by global KO mice. Our results demonstrate requisite roles for SNED1 during development and neonatal survival. Importantly, the deletion of 2q37.3 in humans, a region that includes the SNED1 locus, has been associated with facial dysmorphism and short stature.Our mouse model could thus help shed light on the mechanisms of the 2q37.3 deletion syndrome. Read our paper here.