Preprint in bioRxiv: Knockout of the gene encoding the ECM protein Sned1 results in craniofacial malformations and early neonatal lethality.

Employing a gene-trap strategy or the introduction of a frameshift mutation, we generated two novel Sned1 knockout mouse strains. Using these models, we showed that Sned1 is essential since homozygous ablation of the gene led to early neonatal lethality. Sned1 is widely expressed in embryos, notably in somitic sclerotomes and neural-crest derivatives. Phenotypic analysis of the few surviving knockout mice obtained revealed a role for Sned1 in the development of the skeleton and neural-crest-derived craniofacial structures since Sned1 knockout resulted in growth defects, nasal cavity occlusion, and craniofacial malformations. Altogether our results demonstrate the requisite role for Sned1 during development and neonatal survival. Read the full manuscript here.