| Experiment Id | GSE237816 | Name | Cell-type-specific expression and regulation in cerebral cortex and kidney of atypical Schinzel Giedion Syndrome mice |
| Experiment Type | RNA-Seq | Study Type | WT vs. Mutant |
| Source | GEO | Curation Date | 2024-11-26 |
| description | Schinzel Giedion Syndrome (SGS) is an ultra rare progressive neurodegenerative disease affecting less than 100 individuals worldwide. SGS is caused 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 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) |
