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C57BL/6JCya-Kng1em1/Cya
Common Name:
Kng1-KO
Product ID:
S-KO-02808
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Kng1-KO
Strain ID
KOCMP-16644-Kng1-B6J-VA
Gene Name
Kng1
Product ID
S-KO-02808
Gene Alias
Kng
Background
C57BL/6JCya
NCBI ID
16644
Modification
Conventional knockout
Chromosome
16
Phenotype
MGI:1097705
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-Kng1em1/Cya mice (Catalog S-KO-02808) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000023589
NCBI RefSeq
NM_001102411
Target Region
Exon 3
Size of Effective Region
~0.6 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Kng1, encoding high molecular weight kininogen (HMWK), is a gene with multifaceted functions. HMWK is a glycoprotein closely associated with the initiation of blood coagulation, tumor growth, and other pathological processes [3]. It participates in the contact system, which is involved in coagulation, fibrinolysis, and kinin generation [1]. Genetic models can be crucial in further exploring its function.

Mutations in Kng1 are linked to various conditions. Pathogenic, biallelic Kng1 variants cause severe high-molecular-weight kininogen deficiency, an autosomal recessive contact system defect [2]. In hereditary angioedema with normal C1-INH activity (HAE-nl-C1-INH), mutations in Kng1 (HAE-KNG1) are among the underlying causes [1]. Also, a missense mutation (c.618 T > G, p.Cys206Trp) and a nonsense mutation (c.1165C > T, p.Arg389X) in Kng1 lead to disruption of a disulfide bond and truncation of the D5 domain in HMWK, resulting in its deficiency and a prolonged activated partial thromboplastin time (APTT) [3].

In conclusion, Kng1 is essential for normal blood coagulation and related physiological processes. Studies on Kng1, especially through gene-based models, have advanced our understanding of coagulation factor deficiencies and hereditary angioedema. These findings contribute to improving diagnostic and therapeutic approaches for conditions associated with Kng1 mutations.

References:

1. 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/

2. Adenaeuer, Anke, Barco, Stefano, Trinchero, Alice, Lämmle, Bernhard, Rossmann, Heidi. 2022. Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence. In Journal of thrombosis and haemostasis : JTH, 21, 237-254. doi:10.1016/j.jtha.2022.11.011. https://pubmed.ncbi.nlm.nih.gov/36700498/

3. Lv, Xiaoying, Li, Pingping, Gui, Ying, Chen, Huaping, Zhang, Fuyong. 2025. KNG1 mutations (c.618 T > G and c.1165C > T) cause disruption of the Cys206-Cys218 disulfide bond and truncation of the D5 domain leading to hereditary high molecular weight kininogen deficiency. In Clinical biochemistry, 136, 110877. doi:10.1016/j.clinbiochem.2025.110877. https://pubmed.ncbi.nlm.nih.gov/39800040/

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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