Cell-type-specific expression and regulation in cerebral cortex and kidney of atypical Schinzel Giedion Syndrome mice

Schinzel Giedion Syndrome (SGS) is an ultra rare progressive neurodegenerative disease affecting less than 100 inividuals worldwide. SGS is cuased by variants in SETBP1 gene. We used snRNA-seq of cerebral cortex and kidney tissues from mice carrying a heterozygous S858R variant in Setbp1 and constructed cell-type-specific gene regulatory networks to profile the impact of the point mutation on cell-type-specific expression and regulation of Setbp1 and its known targets in atypical SGS. Grant Number: 1U54oD030167 UAB Pilot Center for Precision Animal Modeling (C-PAM) Grantee: Brittany Lasseigne Grant Number: 5T32GM008111-35 UAB CMDB T32 Grantee: Jordan Whitlock Overall design: We obtained decapsulated whole right kidneys and right cerebral cortex hemispheres from three 6-week-old male C57BL/6JSetbp1em2Lutzy/J mice heterozygous for Setbp1 S858R, an SGS-associated point mutation (JAX Stock #033235) and three wild-type (WT) age, and sex-matched C57BL6/J mice (JAX Stock #000664)