C57BL/6JCya-Elmo2em1/Cya
Common Name:
Elmo2-KO
Product ID:
S-KO-17476
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Elmo2-KO
Strain ID
KOCMP-140579-Elmo2-B6J-VB
Gene Name
Product ID
S-KO-17476
Gene Alias
1190002F24Rik; CED-12
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Elmo2em1/Cya mice (Catalog S-KO-17476) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000074046
NCBI RefSeq
NM_207706
Target Region
Exon 7
Size of Effective Region
~0.9 kb
Detailed Document
Overview of Gene Research
ELMO2, a member of the Elmo protein family, is involved in multiple cellular processes. It plays a role in regulating Rac1 and Akt activation, and is associated with pathways such as the ELMO/DOCK/Rac signaling pathway. ELMO2 also participates in important biological functions like cell motility, phagocytosis, and insulin-dependent Glut4 membrane translocation [3,4,6]. Gene knockout models, like those in zebrafish, can be valuable for studying its functions [7].
ELMO2 biallelic pathogenic loss-of-function (LOF) variants are associated with conditions such as Ramon syndrome, characterized by cherubism, gingival fibromatosis, epilepsy, etc., and primary intraosseous vascular malformation (PIVM), presenting with gingival bleeding and cherubism phenotype. In pancreatic cancer, ELMO2 knockdown inhibits cell chemotaxis, migration, invasion, and F-actin polymerization, suggesting it as a potential therapeutic target. In muscle, genetic ablation of Elmo2 in Elmo1 -/- mice leads to severe myoblast fusion defects, and biasing its conformation can impact muscle regeneration. In zebrafish, elmo2 -/- mutants show distinct changes in vascular and glomerular structure, metabolome, and transcriptome [1,2,5,7].
In conclusion, ELMO2 is crucial for multiple biological processes. Studies using gene-knockout models have revealed its significant roles in diseases like Ramon syndrome and PIVM, as well as in cancer and muscle-related pathologies. These findings enhance our understanding of the biological functions of ELMO2 and provide potential directions for therapeutic interventions in associated diseases.
References:
1. Perrone, Eduardo, Coelho, Antonio Victor Campos, Virmond, Luiza do Amaral, Amorim, Tatiana, Acosta, Angelina Xavier. 2024. ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review. In American journal of medical genetics. Part A, 194, e63602. doi:10.1002/ajmg.a.63602. https://pubmed.ncbi.nlm.nih.gov/38517102/
2. Wang, Yecheng, Li, Hongyan, Li, Fei. 2020. ELMO2 association with Gαi2 regulates pancreatic cancer cell chemotaxis and metastasis. In PeerJ, 8, e8910. doi:10.7717/peerj.8910. https://pubmed.ncbi.nlm.nih.gov/32292657/
3. Sun, Yingmin, Côté, Jean-François, Du, Keyong. 2016. Elmo2 Is a Regulator of Insulin-dependent Glut4 Membrane Translocation. In The Journal of biological chemistry, 291, 16150-61. doi:10.1074/jbc.M116.731521. https://pubmed.ncbi.nlm.nih.gov/27226625/
4. Jackson, Bradley C, Ivanova, Iordanka A, Dagnino, Lina. 2015. An ELMO2-RhoG-ILK network modulates microtubule dynamics. In Molecular biology of the cell, 26, 2712-25. doi:10.1091/mbc.E14-10-1444. https://pubmed.ncbi.nlm.nih.gov/25995380/
5. Tran, Viviane, Nahlé, Sarah, Robert, Amélie, Kmita, Marie, Côté, Jean-François. 2022. Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration. In Nature communications, 13, 7077. doi:10.1038/s41467-022-34806-4. https://pubmed.ncbi.nlm.nih.gov/36400788/
6. Weng, Zhuangfeng, Situ, Chenghao, Lin, Lin, Zhu, Jinwei, Zhang, Rongguang. 2019. Structure of BAI1/ELMO2 complex reveals an action mechanism of adhesion GPCRs via ELMO family scaffolds. In Nature communications, 10, 51. doi:10.1038/s41467-018-07938-9. https://pubmed.ncbi.nlm.nih.gov/30604775/
7. Boger, Mike, Bennewitz, Katrin, Wohlfart, David Philipp, Poschet, Gernot, Kroll, Jens. 2022. Comparative Morphological, Metabolic and Transcriptome Analyses in elmo1 -/- , elmo2 -/- , and elmo3 -/- Zebrafish Mutants Identified a Functional Non-Redundancy of the Elmo Proteins. In Frontiers in cell and developmental biology, 10, 918529. doi:10.3389/fcell.2022.918529. https://pubmed.ncbi.nlm.nih.gov/35874819/
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