C57BL/6JCya-Edrf1em1/Cya
Common Name:
Edrf1-KO
Product ID:
S-KO-18700
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Edrf1-KO
Strain ID
KOCMP-214764-Edrf1-B6J-VB
Gene Name
Product ID
S-KO-18700
Gene Alias
2700050L05Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
7
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Edrf1em1/Cya mice (Catalog S-KO-18700) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000051169
NCBI RefSeq
NM_178115
Target Region
Exon 3~4
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
Edrf1, also known as erythroid differentiation regulatory factor 1, is a gene with diverse functions. It is involved in erythroid differentiation, regulating the expression of globin genes such as alpha-and gamma-globin through modulating the DNA-binding activity of the GATA-1 transcription factor [4,5,6]. It may also play a role in platelet formation as it regulates the expression and activity of GATA1, which controls spectrin synthesis, a requirement for platelet formation [2]. In zebrafish, Edrf1 is identified as a spermatid-specific novel marker gene, indicating its potential involvement in spermatogenesis [7].
In the context of disease, Edrf1 has been associated with intellectual disability. Pathogenic or likely pathogenic variants in Edrf1 were detected in some Middle Eastern families with intellectual disability patients, suggesting it as a candidate gene for this disorder [1]. In dengue virus-infected individuals, the dengue virus protease NS3 can cleave Edrf1, which may contribute to the development of thrombocytopenia, one of the symptoms of dengue virus infection [2,3].
In conclusion, Edrf1 is crucial in erythroid differentiation, platelet formation, spermatogenesis, and has implications in intellectual disability and dengue-associated thrombocytopenia. Studies on Edrf1 enhance our understanding of these biological processes and disease mechanisms, potentially providing new directions for diagnosis, treatment, and prevention in relevant disease areas.
References:
1. Al-Kasbi, Ghalia, Al-Murshedi, Fathiya, Al-Kindi, Adila, Al-Yahyaee, Said, Al-Maawali, Almundher. 2022. The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families. In Scientific reports, 12, 18862. doi:10.1038/s41598-022-22036-z. https://pubmed.ncbi.nlm.nih.gov/36344539/
2. Gandhi, Lekha, Maisnam, Deepti, Rathore, Deepika, Bonagiri, Anvesh, Venkataramana, Musturi. 2023. Differential localization of dengue virus protease affects cell homeostasis and triggers to thrombocytopenia. In iScience, 26, 107024. doi:10.1016/j.isci.2023.107024. https://pubmed.ncbi.nlm.nih.gov/37534186/
3. Gandhi, Lekha, Venkataramana, Musturi. 2024. Analysis of Cleavage Activity of Dengue Virus Protease by Co-transfections. In Bio-protocol, 14, e4946. doi:10.21769/BioProtoc.4946. https://pubmed.ncbi.nlm.nih.gov/38464936/
4. Wang, D, Shen, B, Li, Y. . [A novel erythroid differentiation related gene EDRF1 upreguated globin gene expression in HEL cells]. In Zhonghua yi xue za zhi, 81, 1512-5. doi:. https://pubmed.ncbi.nlm.nih.gov/16200778/
5. Wang, Duncheng, Ma, Shuhua, Wang, Shengqi, Shen, Beifen. . Antisense EDRF1 gene inhibited GATA-1 transcription factor DNA-binding activity in K562 cells. In Science in China. Series C, Life sciences, 45, 289-97. doi:10.1360/02yc9032. https://pubmed.ncbi.nlm.nih.gov/18759052/
6. Wang, Duncheng, Li, Yan, Shen, Beifen. . A novel erythroid differentiation related gene EDRF1 upregulating globin gene expression in HEL cells. In Chinese medical journal, 115, 1701-5. doi:. https://pubmed.ncbi.nlm.nih.gov/12609092/
7. Qian, Peipei, Kang, Jiahui, Liu, Dong, Xie, Gangcai. 2022. Single Cell Transcriptome Sequencing of Zebrafish Testis Revealed Novel Spermatogenesis Marker Genes and Stronger Leydig-Germ Cell Paracrine Interactions. In Frontiers in genetics, 13, 851719. doi:10.3389/fgene.2022.851719. https://pubmed.ncbi.nlm.nih.gov/35360857/
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