About Enhancer
| Enhancer ID: | E_01064 |
| Species: | Mus musculus |
| Position : | chr5:35623357-35624110   |
| Year: | 2025 |
| Title: | Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis. |
| Genome Build: | mm39 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | BCE-like auricular malformation model |
| PMID: | 40382324 |
| Tissue: | external ear |
| Tissue Ontology ID: | UBERON:0001691 |
| Cell Source: | E14.5 mEC1dup/dup and mEC1del/del pinna |
| Cell Type: | neural crest-derived fibroblast |
| Experiment Type: | Enhancer activity assay; Functional perturbation assay; Phenotypic validation assay |
| High Throughput Method: | scRNA-seq; bulk RNA-seq |
| Low Throughput Method: | Transgenic LacZ reporter assay; mEC1 duplication knock-in; mEC1 deletion; WISH; RT-qPCR; micro-CT |
About Target Gene
| Target gene : | Hmx1 |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (mm39)
No overlapping enhancers found in mm39 at this locus.
Expression of Target Genes for the Enhancer