Description
Gene information:
The UBE3A gene locates on human chromosome 15q11-q13. Its maternal allele is actively expressed in brain tissues, while the paternal one is silenced. Loss of functional maternal UBE3A causes Angelman syndrome via genetic deficiency.
Signaling pathway:
UBE3A regulates multiple neuronal signaling pathways through ubiquitination. Its dysfunction disturbs synaptic function and neuronal development. Disordered downstream signaling leads to intellectual disability, seizures and movement issues in Angelman patients.
Therapeutic strategy:
Therapeutic strategies target reactivating silent paternal UBE3A. Compounds restore its expression to compensate for lost maternal function, serving as promising interventions for Angelman syndrome treatment.
Targeting strategy
Ube3a
- Exon 6 of the mouse Ube3a gene was knocked out in B-Ube3a KO mice, leading to maternal Ube3a loss of function.
mRNA Expression Analysis
- The mRNA expression of Ube3a in heterozygous B-Ube3a KO mice is approximately half that of the wild-type C57BL/6JNifdc mice, which is consistent with the expected expression levels in heterozygous knockout mice.
Ube3a gene expression analysis in wild-type C57BL/6JNifdc mice and heterozygous B-Ube3a KO mice by RT-qPCR. Various tissue were collected from wild-type C57BL/6JNifdc mice (+/+) (female, n=3, 6-week-old) and heterozygous B-Ube3a mice (+/-) (female, n=3, 6-week-old).
* When publishing results obtained using this animal model, please acknowledge the source as follows: The animal model [B-Ube3a KO mice] (Cat# 114890) was purchased from Biocytogen.
