C57BL/6JCya-F7em1flox/Cya
Common Name:
F7-flox
Product ID:
S-CKO-02324
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
F7-flox
Strain ID
CKOCMP-14068-F7-B6J-VA
Gene Name
Product ID
S-CKO-02324
Gene Alias
Cf7; FVII
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
8
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-F7em1flox/Cya mice (Catalog S-CKO-02324) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033820
NCBI RefSeq
NM_010172
Target Region
Exon 2
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
F7, also known as the coagulation factor VII gene, is crucial for blood coagulation. Mutations in this gene can lead to congenital factor VII deficiency, an autosomal recessive bleeding disorder [1,2,3,4].
Studies on patients with FVII deficiency have identified numerous gene mutations. In 40 Tunisian patients, 13 F7 gene mutations were found, with one being novel, and there was a wide phenotypic inter-individual variability [1]. A larger cohort study of 123 probands detected 48 mutations, 20 of which were not in international databases, and showed a correlation between mutation type and FVII:C levels, though not directly with bleeding tendency [2]. In 2 unrelated families, 4 compound heterozygous mutations were identified in 3 probands with FVII deficiency, including 3 novel ones [3]. In a Japanese patient, compound heterozygous mutations were found, with a novel mutation in the 5' promoter region reducing the binding of hepatocyte nuclear factor and thus FVII transcription [4].
In conclusion, F7 is essential for normal blood coagulation, and genetic studies of FVII-deficient patients have revealed the complexity of mutations in the F7 gene and their relationships with FVII levels and clinical phenotypes. Understanding these aspects can provide insights into the diagnosis and potential treatment of congenital factor VII deficiency.
References:
1. Ouardani, Cherifa, Elmahmoudi, Hejer, ELborgi, Wejden, Meriem, Achour, Gouider, Emna. 2022. Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency. In Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis, 33, 280-284. doi:10.1097/MBC.0000000000001139. https://pubmed.ncbi.nlm.nih.gov/35802509/
2. Quintavalle, Gabriele, Riccardi, Federica, Rivolta, Gianna Franca, Percesepe, Antonio, Tagliaferri, Annarita. 2017. F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study. In Thrombosis and haemostasis, 117, 1455-1464. doi:10.1160/TH17-02-0085. https://pubmed.ncbi.nlm.nih.gov/28447100/
3. Ma, Cui, Wang, Yue, Gao, Haidi, Zhang, Huichao, Li, Chunhuai. . Compound Heterozygous Mutations in the F7 Gene in 2 Unrelated Families With Congenital Factor VII Deficiency. In Journal of pediatric hematology/oncology, 43, e1059-e1061. doi:10.1097/MPH.0000000000002057. https://pubmed.ncbi.nlm.nih.gov/33480651/
4. Osaki, Koichi, Sogabe, Yoko, Seki, Ritsuko, Nagafuji, Koji, Okamura, Takashi. 2022. Factor VII Deficiency Due to Compound Heterozygosity for the p.Leu13Pro Mutation and a Novel Mutation in the HNF4 Binding Region (-58G>C) in the F7 Promoter. In The Kurume medical journal, 67, 83-89. doi:10.2739/kurumemedj.MS6723006. https://pubmed.ncbi.nlm.nih.gov/36123027/
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