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C57BL/6NCya-Diaph1em1flox/Cya
Common Name:
Diaph1-flox
Product ID:
S-CKO-02039
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Diaph1-flox
Strain ID
CKOCMP-13367-Diaph1-B6N-VA
Gene Name
Diaph1
Product ID
S-CKO-02039
Gene Alias
D18Wsu154e; Dia1; Diap1; Drf1; p140mDia
Background
C57BL/6NCya
NCBI ID
13367
Modification
Conditional knockout
Chromosome
18
Phenotype
MGI:1194490
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Diaph1em1flox/Cya mice (Catalog S-CKO-02039) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000115634
NCBI RefSeq
NM_007858
Target Region
Exon 2~5
Size of Effective Region
~2.6 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Diaph1, also known as mammalian diaphanous-1, is a formin that regulates actin dynamics, signal transduction, and metabolic functions. It is involved in pathways such as the RAGE signaling pathway and plays a role in maintaining cellular homeostasis. Genetic models, like gene knockout mice, have been valuable for studying its functions [1-3, 5-10].

In gene knockout studies, deletion of Diaph1 in atherosclerosis-prone Ldlr-/-mice led to significantly less atherosclerosis, along with lower plasma cholesterol and triglyceride levels, suggesting its role in the progression of atherosclerosis and hepatic lipid metabolism [2]. In male rodent and human cardiomyocytes, the interaction between DIAPH1 and MFN2 regulates mitochondrial turnover, mitophagy, and oxidative stress, and shortening the mitochondria-SR/ER distance mitigated the effects of DIAPH1 silencing in ischemia [1]. In non-East Asian patients with sporadic Moyamoya disease, variants in DIAPH1 were identified, suggesting it as a novel risk gene in this vasculopathy [3]. Loss of DIAPH1 in humans is associated with major T, NK, and ILC defects, and in mice, Diaph1 knockout inhibits primordial germ cell proliferation and affects gonadal development [4,5].

In conclusion, Diaph1 is crucial for multiple biological processes, including lipid metabolism, mitochondrial regulation, and cell proliferation in various tissues. Studies using Diaph1 knockout mouse models have provided insights into its role in diseases such as atherosclerosis, Moyamoya disease, and immunodeficiency-related conditions, contributing to a better understanding of disease mechanisms and potential therapeutic targets.

References:
1. Yepuri, Gautham, Ramirez, Lisa M, Theophall, Gregory G, Shekhtman, Alexander, Ramasamy, Ravichandran. 2023. DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress. In Nature communications, 14, 6900. doi:10.1038/s41467-023-42521-x. https://pubmed.ncbi.nlm.nih.gov/37903764/
2. Senatus, Laura, Egaña-Gorroño, Lander, López-Díez, Raquel, Ramasamy, Ravichandran, Schmidt, Ann Marie. 2023. DIAPH1 mediates progression of atherosclerosis and regulates hepatic lipid metabolism in mice. In Communications biology, 6, 280. doi:10.1038/s42003-023-04643-2. https://pubmed.ncbi.nlm.nih.gov/36932214/
3. Kundishora, Adam J, Peters, Samuel T, Pinard, Amélie, Jin, Sheng Chih, Kahle, Kristopher T. . DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease. In JAMA neurology, 78, 993-1003. doi:10.1001/jamaneurol.2021.1681. https://pubmed.ncbi.nlm.nih.gov/34125151/
4. Azizoglu, Zehra Busra, Babayeva, Royala, Haskologlu, Zehra Sule, Baris, Safa, Eken, Ahmet. 2024. DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans. In Journal of clinical immunology, 44, 175. doi:10.1007/s10875-024-01777-8. https://pubmed.ncbi.nlm.nih.gov/39120629/
5. Zhao, Xin, Fan, Chunbiao, Qie, Tongtong, Yan, Wenlong, Yu, Haiquan. 2024. Diaph1 knockout inhibits mouse primordial germ cell proliferation and affects gonadal development. In Reproductive biology and endocrinology : RB&E, 22, 82. doi:10.1186/s12958-024-01257-z. https://pubmed.ncbi.nlm.nih.gov/39010074/
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
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