C57BL/6JCya-Eea1em1/Cya
Common Name:
Eea1-KO
Product ID:
S-KO-17499
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Eea1-KO
Strain ID
KOCMP-216238-Eea1-B6J-VB
Gene Name
Product ID
S-KO-17499
Gene Alias
A430109M19Rik; B230358H09Rik; ZFYVE2
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
10
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Eea1em1/Cya mice (Catalog S-KO-17499) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000053484
NCBI RefSeq
NM_001001932
Target Region
Exon 6
Size of Effective Region
~0.7 kb
Detailed Document
Overview of Gene Research
Eea1, or Early Endosomal Antigen 1, is a key protein in endosomal trafficking [4]. It plays a crucial role in the homotypic fusions of early endosomes, which are the main sorting station on the endocytic pathway [1]. Eea1 binds to the PI(3)K product phosphatidylinositol-3-phosphate and serves as a Rab5 effector, linking PI(3)K function to Rab5 regulation of endosome fusion [2].
In Rett syndrome, a neurodevelopmental disorder caused by loss-of-function mutations in MECP2, Mecp2-deficient neurons lack homeostatic synaptic plasticity, likely due to reduced levels of Eea1. Expression of Eea1 in these neurons restored homeostatic synaptic plasticity, suggesting Eea1 as a novel target for intervention in Rett syndrome [3]. Also, mutations in Eea1 are associated with allergic bronchopulmonary aspergillosis (ABPA). Variants in Eea1 affect the phagocytosis of Aspergillus fumigatus conidia and the acidification of phagolysosomes by human macrophages, providing new insights into the susceptibility to this disease [5].
In conclusion, Eea1 is essential for endosomal trafficking and endosome fusion. Its dysregulation is implicated in diseases such as Rett syndrome and ABPA. Studies using relevant genetic models like Mecp2 - deficient neurons have revealed its role in maintaining synaptic plasticity and in the context of ABPA, enhancing our understanding of disease mechanisms and potential treatment targets.
References:
1. Kamentseva, Rimma, Kosheverova, Vera, Kharchenko, Marianna, Nikolsky, Nikolay, Kornilova, Elena. 2020. Functional cycle of EEA1-positive early endosome: Direct evidence for pre-existing compartment of degradative pathway. In PloS one, 15, e0232532. doi:10.1371/journal.pone.0232532. https://pubmed.ncbi.nlm.nih.gov/32357161/
2. Simonsen, A, Lippé, R, Christoforidis, S, Zerial, M, Stenmark, H. . EEA1 links PI(3)K function to Rab5 regulation of endosome fusion. In Nature, 394, 494-8. doi:. https://pubmed.ncbi.nlm.nih.gov/9697774/
3. Xu, Xin, Pozzo-Miller, Lucas. 2017. EEA1 restores homeostatic synaptic plasticity in hippocampal neurons from Rett syndrome mice. In The Journal of physiology, 595, 5699-5712. doi:10.1113/JP274450. https://pubmed.ncbi.nlm.nih.gov/28621434/
4. Larsen, Andreas Haahr, Tata, Lilya, John, Laura H, Sansom, Mark S P. 2021. Membrane-binding mechanism of the EEA1 FYVE domain revealed by multi-scale molecular dynamics simulations. In PLoS computational biology, 17, e1008807. doi:10.1371/journal.pcbi.1008807. https://pubmed.ncbi.nlm.nih.gov/34555023/
5. Overton, Nicola L D, Brakhage, Axel A, Thywißen, Andreas, Denning, David W, Bowyer, Paul. 2018. Mutations in EEA1 are associated with allergic bronchopulmonary aspergillosis and affect phagocytosis of Aspergillus fumigatus by human macrophages. In PloS one, 13, e0185706. doi:10.1371/journal.pone.0185706. https://pubmed.ncbi.nlm.nih.gov/29547649/
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