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C57BL/6JCya-Diaph2em1/Cya
Common Name:
Diaph2-KO
Product ID:
S-KO-18204
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Diaph2-KO
Strain ID
KOCMP-54004-Diaph2-B6J-VB
Gene Name
Diaph2
Product ID
S-KO-18204
Gene Alias
Dia3; Diap2; Drf2; E430022I22Rik
Background
C57BL/6JCya
NCBI ID
54004
Modification
Conventional knockout
Chromosome
X
Phenotype
MGI:1858500
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/6JCya-Diaph2em1/Cya mice (Catalog S-KO-18204) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000037854
NCBI RefSeq
NM_172493
Target Region
Exon 6~7
Size of Effective Region
~0.9 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Diaph2, a diaphanous related formin, is a regulatory cytoskeletal protein involved in actin elongation and microtubule stabilization [5,6,7,8]. It is part of pathways related to cell movement, adhesion, and cell cycle progression, and is of great biological importance in processes like development and tissue homeostasis. Genetic models, such as mouse models, can be valuable for studying its functions.

In terms of disease associations, certain polymorphisms in Diaph2, like rs6620138 and rs12851931, are related to an increased risk of laryngeal cancer [1,3]. DIAPH2 alterations, including deletions and single nucleotide variants targeting conserved domains, are present primarily in metastasizing specimens of laryngeal squamous cell carcinoma and may contribute to the tumor's metastatic potential [4]. Also, Diaph2 has been linked to primary ovarian insufficiency, being one of the genes associated with ovarian development and meiosis/DNA repair pathways relevant to this condition [2]. In the inner ear, although Diaph2 knock-out and knock-in mice showed no hearing impairment, it may still play a role in the inner ear as its ortholog protein is expressed in the cochlea's sensory outer hair cells [5]. In colorectal cancer cells, stable down-regulation of Diaph2 expression affects chromosome alignment, movement, proliferation rate, and colony formation, and Diaph2 controls spindle microtubule dynamics independent of its FH2-domain [6].

In summary, Diaph2 is crucial for cytoskeletal regulation and is involved in various biological processes. Studies using mouse models and genetic analysis have revealed its significant associations with laryngeal cancer, primary ovarian insufficiency, and its potential role in the inner ear and colorectal cancer. Understanding Diaph2's functions through these models provides insights into the mechanisms of these diseases, which may be beneficial for future disease treatment and prevention strategies.

References:
1. Śnit, Mirosław, Misiołek, Maciej, Ścierski, Wojciech, Okła, Sławomir, Grzeszczak, Władysław. 2021. DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk. In International journal of environmental research and public health, 18, . doi:10.3390/ijerph18147486. https://pubmed.ncbi.nlm.nih.gov/34299935/
2. França, Monica Malheiros, Mendonca, Berenice Bilharinho. 2021. Genetics of ovarian insufficiency and defects of folliculogenesis. In Best practice & research. Clinical endocrinology & metabolism, 36, 101594. doi:10.1016/j.beem.2021.101594. https://pubmed.ncbi.nlm.nih.gov/34794894/
3. Cichocka, Edyta, Górczyńska-Kosiorz, Sylwia, Misiołek, Maciej, Stryjewska-Makuch, Grażyna, Gumprecht, Janusz. 2024. DIAPH2 gene polymorphisms and laryngeal cancer risk in men. In Journal of cancer research and clinical oncology, 150, 295. doi:10.1007/s00432-024-05820-4. https://pubmed.ncbi.nlm.nih.gov/38844723/
4. Kostrzewska-Poczekaj, M, Byzia, E, Soloch, N, Szyfter, K, Giefing, M. . DIAPH2 alterations increase cellular motility and may contribute to the metastatic potential of laryngeal squamous cell carcinoma. In Carcinogenesis, 40, 1251-1259. doi:10.1093/carcin/bgz035. https://pubmed.ncbi.nlm.nih.gov/30793164/
5. Chiereghin, Chiara, Robusto, Michela, Lewis, Morag A, Asselta, Rosanna, Soldà, Giulia. 2023. In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear. In PloS one, 18, e0273586. doi:10.1371/journal.pone.0273586. https://pubmed.ncbi.nlm.nih.gov/36689403/
6. Grueb, Saskia S, Muhs, Stefanie, Popp, Yannes, Lin, Yuan-Na, Windhorst, Sabine. 2019. The formin Drosophila homologue of Diaphanous2 (Diaph2) controls microtubule dynamics in colorectal cancer cells independent of its FH2-domain. In Scientific reports, 9, 5352. doi:10.1038/s41598-019-41731-y. https://pubmed.ncbi.nlm.nih.gov/30926831/
7. Labat-de-Hoz, Leticia, Alonso, Miguel A. 2021. Formins in Human Disease. In Cells, 10, . doi:10.3390/cells10102554. https://pubmed.ncbi.nlm.nih.gov/34685534/
8. Chiereghin, Chiara, Robusto, Michela, Massa, Valentina, Asselta, Rosanna, Soldà, Giulia. 2022. Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss. In Cells, 11, . doi:10.3390/cells11111726. https://pubmed.ncbi.nlm.nih.gov/35681420/
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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