Genomics

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Single cell RNA sequencing (scRNAseq) on mouse embryonic cranial motor neurons and surrounding tissue from wildtype and HCFP1 cRE1dup/+ mice.


ABSTRACT: We found hereditary congenital facial paralysis type 1 (HCFP1) is caused by variants that duplicate or change cis regulatory elements (cREs) controlling the neuronal expression of the GATA2 transcription factor. We generated an HCFP1 mouse model in which tandem copies of the human version of a GATA2 regulatory element we term cRE1 were inserted proximal to the mouse cRE1 (cRE1dup/+; hg19: chr3:128,175,708-128,176,563). We report the use of single cell RNA sequencing (scRNAseq) for transcriptomic analysis of developing rhombomere 4(r4)-derived wild type (WT) and cRE1dup/+ facial branchial motor neurons (FBMNs) and inner ear efferent neurons (IEEs), as well as surrounding tissue, from embryos aged 9.5-12.5 post coitus (E9.5-12.5).

ORGANISM(S): Mus musculus

PROVIDER: GSE171337 | GEO | 2023/04/04

REPOSITORIES: GEO

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