C57BL/6JCya-Wdr45em1/Cya
Common Name:
Wdr45-KO
Product ID:
S-KO-18551
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Wdr45-KO
Strain ID
KOCMP-54636-Wdr45-B6J-VA
Gene Name
Product ID
S-KO-18551
Gene Alias
DXImx38e; JM5; Sfc19; WIPI-4; Wdrx1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Wdr45em1/Cya mice (Catalog S-KO-18551) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000043045
NCBI RefSeq
NM_001290792
Target Region
Exon 3~7
Size of Effective Region
~2.8 kb
Detailed Document
Overview of Gene Research
Wdr45, also known as WIPI4, is a WD-repeat β-propeller protein belonging to the WIPI (WD repeat domain, phosphoinositide interacting) family. It is located on the X-chromosome and plays a role in pathways potentially related to macroautophagy, mitochondrial function, endoplasmic reticulum (ER) homeostasis, and iron homeostasis [1].
Constitutive wdr45 knockout (KO) mice showed cognitive impairments, abnormal synaptic transmission, and lesions in several brain regions. Aged KO mice had neuron loss in the prefrontal cortex and basal ganglion, and increased apoptosis in the prefrontal cortex. Quantitative proteomic analysis of KO mice revealed accumulation of ER proteins, leading to increased ER stress, impaired ER quality control, elevated unfolded protein response (UPR) through ERN1/IRE1 or EIF2AK3/PERK pathway, and ultimately neuronal apoptosis [2]. WDR45-knockout SH-SY5Y neuroblastoma cell line showed that non-TF-bound iron pathway mediated iron accumulation, and loss of WDR45 led to defects in ferritinophagy, contributing to iron accumulation in mitochondria, accompanied by impaired mitochondrial respiration, elevated reactive oxygen species, and increased cell death [3].
In conclusion, Wdr45 is crucial for maintaining normal cellular functions related to autophagy, ER homeostasis, and iron metabolism. Studies using KO mouse models and cell lines have provided insights into its role in neurodegenerative diseases such as β-propeller protein-associated neurodegeneration (BPAN), where Wdr45 deficiency may lead to a cascade of cellular malfunctions contributing to the disease pathophysiology [1,2,3].
References:
1. Cong, Yingying, So, Vincent, Tijssen, Marina A J, Reggiori, Fulvio, Mauthe, Mario. 2021. WDR45, one gene associated with multiple neurodevelopmental disorders. In Autophagy, 17, 3908-3923. doi:10.1080/15548627.2021.1899669. https://pubmed.ncbi.nlm.nih.gov/33843443/
2. Wan, Huida, Wang, Qi, Chen, Xiuting, Zhang, Zhuohua, Liao, Lujian. 2019. WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death. In Autophagy, 16, 531-547. doi:10.1080/15548627.2019.1630224. https://pubmed.ncbi.nlm.nih.gov/31204559/
3. Aring, Luisa, Choi, Eun-Kyung, Kopera, Huira, Klionsky, Daniel J, Seo, Young Ah. 2021. A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation. In Journal of neurochemistry, 160, 356-375. doi:10.1111/jnc.15548. https://pubmed.ncbi.nlm.nih.gov/34837396/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen