C57BL/6NCya-Diaph1em1/Cya
Common Name:
Diaph1-KO
Product ID:
S-KO-19072
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Diaph1-KO
Strain ID
KOCMP-13367-Diaph1-B6N-VB
Gene Name
Product ID
S-KO-19072
Gene Alias
D18Wsu154e; Dia1; Diap1; Drf1; p140mDia
Background
C57BL/6NCya
NCBI ID
Modification
Conventional knockout
Chromosome
18
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Diaph1em1/Cya mice (Catalog S-KO-19072) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000115634
NCBI RefSeq
NM_007858
Target Region
Exon 2~5
Size of Effective Region
~2.1 kb
Detailed Document
Overview of Gene Research
DIAPH1, also known as Diaphanous-1, is a formin that regulates actin dynamics, signal transduction, and metabolic functions. It is involved in multiple pathways such as the RAGE-DIAPH1 signaling pathway, which is associated with atherosclerosis [2,3,4,5]. It also plays a role in maintaining cellular homeostasis through regulating inter-organelle contact between mitochondria and sarco/endoplasmic reticulum (SR/ER) [1]. Genetic models, like KO mouse models, are valuable for studying its functions.
In KO mouse models, global deletion of Diaph1 in Ldlr-/-mice significantly attenuates atherosclerosis, with lower plasma and liver concentrations of cholesterol and triglyceride, suggesting its role in regulating hepatic lipid metabolism and the progression of atherosclerosis [2,3,5]. In addition, DIAPH1-MFN2 interaction in male rodent and human cardiomyocytes regulates mitochondrial turnover, mitophagy, and oxidative stress, and shortening the mitochondria-SR/ER distance can mitigate the effects of DIAPH1 silencing in ischemia [1]. Homozygous loss of DIAPH1 in humans causes seizures, cortical blindness, and microcephaly syndrome (SCBMS), combined immunodeficiency, and mitochondrial dysfunction, as seen in studies on patients with loss-of-function mutations [6,7].
In conclusion, DIAPH1 is crucial for various biological processes. Model-based research, especially KO mouse models, has revealed its significance in diseases like atherosclerosis, ischemia-related conditions, and SCBMS. Understanding DIAPH1's functions provides insights into the underlying mechanisms of these diseases 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. Ramasamy, Ravichandran, Shekhtman, Alexander, Schmidt, Ann Marie. 2023. RAGE/DIAPH1 and atherosclerosis through an evolving lens: Viewing the cell from the "Inside - Out". In Atherosclerosis, , 117304. doi:10.1016/j.atherosclerosis.2023.117304. https://pubmed.ncbi.nlm.nih.gov/39492058/
4. Ramasamy, Ravichandran, Shekhtman, Alexander, Schmidt, Ann Marie. 2022. The RAGE/DIAPH1 Signaling Axis & Implications for the Pathogenesis of Diabetic Complications. In International journal of molecular sciences, 23, . doi:10.3390/ijms23094579. https://pubmed.ncbi.nlm.nih.gov/35562970/
5. Ramasamy, Ravichandran, Shekhtman, Alexander, Schmidt, Ann Marie. 2023. RAGE/DIAPH1 and atherosclerosis through an evolving lens: Viewing the cell from the "Inside - Out". In Atherosclerosis, 394, . doi:10.1016/j.atherosclerosis.2023.117304. https://pubmed.ncbi.nlm.nih.gov/39131441/
6. Kaustio, Meri, Nayebzadeh, Naemeh, Hinttala, Reetta, Uusimaa, Johanna, Saarela, Janna. 2021. Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction. In The Journal of allergy and clinical immunology, 148, 599-611. doi:10.1016/j.jaci.2020.12.656. https://pubmed.ncbi.nlm.nih.gov/33662367/
7. 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/
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