C57BL/6JCya-Serping1em1flox/Cya
Common Name:
Serping1-flox
Product ID:
S-CKO-01471
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Serping1-flox
Strain ID
CKOCMP-12258-Serping1-B6J-VA
Gene Name
Product ID
S-CKO-01471
Gene Alias
C1 Inh; C1INH.; C1Inh; C1nh
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Serping1em1flox/Cya mice (Catalog S-CKO-01471) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000023994
NCBI RefSeq
NM_009776
Target Region
Exon 3
Size of Effective Region
~1.0 kb
Detailed Document
Overview of Gene Research
Serping1, also known as the C1 inhibitor (C1INH) encoding gene, plays a crucial role in the body. C1INH is a protease inhibitor that is the major control of the kallikrein-kinin system and also inhibits the C1r/C1s in the C1 complex of the classical complement pathway, preventing its spontaneous activation [1,3,4]. It is essential for maintaining the balance of the coagulation, complement, contact systems, and fibrinolysis [2].
Mutations in Serping1 are responsible for hereditary angioedema (C1-INH-HAE), an autosomal dominant disorder. Over 700 mutation variants have been described, with different phenotypes associated with the variants. For example, some dysfunctional serpin variants fail to associate with proteases and present a residual 105-kDa species after incubation with target protease. Also, in conditions with low antigenic C1Inh, some patients present an intermediate C1-INH-HAE phenotype [1]. In addition, Serping1 mRNA is overexpressed in monocytes from HIV-1 + patients, and its expression levels correlate with viral load and CD4+ T-cell count, indicating its role in the innate immune response to HIV-1 infection [3].
In conclusion, Serping1 is vital for regulating key physiological systems such as the kallikrein-kinin and complement systems. Its mutations are strongly linked to hereditary angioedema, and it also plays a role in the immune response to HIV-1. Understanding Serping1 through research, potentially including gene knockout models in the future, could further clarify its functions and provide insights for treating related diseases.
References:
1. Ponard, Denise, Gaboriaud, Christine, Charignon, Delphine, Tosi, Mario, Drouet, Christian. 2019. SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes. In Human mutation, 41, 38-57. doi:10.1002/humu.23917. https://pubmed.ncbi.nlm.nih.gov/31517426/
2. Sinnathamby, Evan S, Issa, Peter P, Roberts, Logan, Shekoohi, Sahar, Kaye, Alan D. 2023. Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology. In Advances in therapy, 40, 814-827. doi:10.1007/s12325-022-02401-0. https://pubmed.ncbi.nlm.nih.gov/36609679/
3. Sanfilippo, C, Cambria, D, Longo, A, Malaguarnera, L, Di Rosa, Michelino. 2017. SERPING1 mRNA overexpression in monocytes from HIV+ patients. In Inflammation research : official journal of the European Histamine Research Society ... [et al.], 66, 1107-1116. doi:10.1007/s00011-017-1091-x. https://pubmed.ncbi.nlm.nih.gov/28889214/
4. Grymová, Tereza, Grodecká, Lucie, Souček, Přemysl, Freiberger, Tomáš. 2019. SERPING1 exon 3 splicing variants using alternative acceptor splice sites. In Molecular immunology, 107, 91-96. doi:10.1016/j.molimm.2019.01.007. https://pubmed.ncbi.nlm.nih.gov/30685616/
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