Single cell RNA-seq for a mouse model of recessive dystrophic epidermolysis bullosa

Recessive dystrophic epidermolysis bullosa (RDEB), intractable skin genetic disease, is caused by mutations in COL7A1. Most RDEB patients have mutations in a compound heterozygous manner. We established an RDEB model mouse with patient type mutations in a compound heterozygous manner. We selected two mutations, c.5818delC and E2857X, which is recurrently identified in human RDEB cohort, and introduced the mutations at corresponding locations of the mouse genome. We analyzed the established mouse by single cell RNA-seq to clarify how loss of functional type VII collagen impact on the integrity of skin. We collected back skins from mice (recessive dystrophic epidermolysis bullosa model). After isolating single cells by enzymatic dissociation, single cell RNA-seq analysis was performed.