C57BL/6JCya-Dffbem1/Cya
Common Name:
Dffb-KO
Product ID:
S-KO-17879
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Dffb-KO
Strain ID
KOCMP-13368-Dffb-B6J-VC
Gene Name
Product ID
S-KO-17879
Gene Alias
40kDa; 5730477D02Rik; CAD; CPAN; DFF40; Didff
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
4
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dffbem1/Cya mice (Catalog S-KO-17879) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000030893
NCBI RefSeq
NM_007859
Target Region
Exon 3~4
Size of Effective Region
~2.1 kb
Detailed Document
Overview of Gene Research
DFFB, also known as DNA fragmentation factor subunit beta, plays a crucial role in the intracellular generation of cell-free DNA (cfDNA) [1,2,3]. cfDNA is a significant non-invasive biomarker for cancer and prenatal testing. DFFB, along with intracellular DNASE1L3 and other nucleases, initiates the fragmentation process of cfDNA within cells [1]. This process is vital as the balance of cfDNA generation and clearance is essential for maintaining health and preventing diseases such as cancer and systemic lupus erythematosus (SLE) [2].
In nuclease-deficient mouse models, analysis of cfDNA fragment ends showed that DFFB has a specific cutting preference, revealing its role in the stepwise process of cfDNA fragmentation [1]. The proportion of long cell-free DNA molecules originating from transcription start sites is lower in Dffb-deficient mice compared to wild-type mice, indicating DFFB's influence on the genomic origin of cfDNA [4]. Also, the deletion of Dffb in mouse models led to certain aberration in the profile of plasma DNA jagged ends, though less significant compared to Dnase1l3 deletion, which is related to SLE [5].
In summary, DFFB is essential for the intracellular stage of cfDNA fragmentation. Mouse models with Dffb deficiency have provided insights into its role in cfDNA-related biological processes and its potential connection to diseases like SLE. Understanding DFFB's function helps in elucidating the biology of cfDNA and may contribute to the development of new diagnostic and therapeutic strategies for associated diseases.
References:
1. Han, Diana S C, Ni, Meng, Chan, Rebecca W Y, Chiu, Rossa W K, Lo, Y M Dennis. 2020. The Biology of Cell-free DNA Fragmentation and the Roles of DNASE1, DNASE1L3, and DFFB. In American journal of human genetics, 106, 202-214. doi:10.1016/j.ajhg.2020.01.008. https://pubmed.ncbi.nlm.nih.gov/32004449/
2. Han, Diana S C, Lo, Y M Dennis. 2021. The Nexus of cfDNA and Nuclease Biology. In Trends in genetics : TIG, 37, 758-770. doi:10.1016/j.tig.2021.04.005. https://pubmed.ncbi.nlm.nih.gov/34006390/
3. Zhou, Ze, Ma, Mary-Jane L, Chan, Rebecca W Y, Lo, Y M Dennis, Jiang, Peiyong. 2023. Fragmentation landscape of cell-free DNA revealed by deconvolutional analysis of end motifs. In Proceedings of the National Academy of Sciences of the United States of America, 120, e2220982120. doi:10.1073/pnas.2220982120. https://pubmed.ncbi.nlm.nih.gov/37075072/
4. Che, Huiwen, Jiang, Peiyong, Choy, L Y Lois, Chan, K C Allen, Lo, Y M Dennis. 2024. Genomic origin, fragmentomics, and transcriptional properties of long cell-free DNA molecules in human plasma. In Genome research, 34, 189-200. doi:10.1101/gr.278556.123. https://pubmed.ncbi.nlm.nih.gov/38408788/
5. Ding, Spencer C, Chan, Rebecca W Y, Peng, Wenlei, Allen Chan, K C, Dennis Lo, Y M. . Jagged Ends on Multinucleosomal Cell-Free DNA Serve as a Biomarker for Nuclease Activity and Systemic Lupus Erythematosus. In Clinical chemistry, 68, 917-926. doi:10.1093/clinchem/hvac050. https://pubmed.ncbi.nlm.nih.gov/35587043/
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