C57BL/6JCya-Nf1em1flox/Cya
Common Name:
Nf1-flox
Product ID:
S-CKO-03929
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nf1-flox
Strain ID
CKOCMP-18015-Nf1-B6J-VB
Gene Name
Product ID
S-CKO-03929
Gene Alias
Dsk9; E030030H24Rik; Mhdadsk9; Nf-1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nf1em1flox/Cya mice (Catalog S-CKO-03929) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000071325
NCBI RefSeq
NM_010897
Target Region
Exon 40~41
Size of Effective Region
~1.6 kb
Detailed Document
Overview of Gene Research
Nf1, associated with Neurofibromatosis type 1 (NF1), is a gene whose product, neurofibromin, has a major function of downregulating RAS, thus playing a crucial role in regulating the RAS/MAPK pathway [2]. Mutations in Nf1 lead to dysregulation of this pathway, causing NF1, an autosomal dominantly inherited tumour predisposition syndrome [2].
Most NF1 patients carry private loss-of-function mutations in Nf1 [1]. A significant proportion of Nf1 missense mutations (30%) can be deleterious by affecting pre-mRNA splicing [1]. NF1 mutations also contribute to the acquisition of drug resistance in melanoma, lung, and breast cancers and neuroblastoma [2]. Cutaneous neurofibromas, which develop in over 99% of NF1 individuals, can potentially be treated with econazole as it selectively induces apoptosis in Nf1 -/- murine nerve root neurosphere cells and human cutaneous neurofibroma xenografts [3].
In conclusion, Nf1 is essential for regulating the RAS/MAPK pathway through its product neurofibromin. Its mutations are associated with NF1 and various malignancies, highlighting its significance in tumour-related disease areas. The study of Nf1-related models can provide insights into disease mechanisms and potential therapeutic strategies for NF1-associated disorders and cancers [1,2,3].
References:
1. Sabbagh, Audrey, Pasmant, Eric, Imbard, Apolline, Parfait, Béatrice, Wolkenstein, Pierre. 2013. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. In Human mutation, 34, 1510-8. doi:10.1002/humu.22392. https://pubmed.ncbi.nlm.nih.gov/23913538/
2. Philpott, Charlotte, Tovell, Hannah, Frayling, Ian M, Cooper, David N, Upadhyaya, Meena. 2017. The NF1 somatic mutational landscape in sporadic human cancers. In Human genomics, 11, 13. doi:10.1186/s40246-017-0109-3. https://pubmed.ncbi.nlm.nih.gov/28637487/
3. Lakes, Yenal B, Moye, Stefanie L, Mo, Juan, Eggan, Kevin, Le, Lu Q. 2023. Econazole selectively induces cell death in NF1-homozygous mutant tumor cells. In Cell reports. Medicine, 4, 101309. doi:10.1016/j.xcrm.2023.101309. https://pubmed.ncbi.nlm.nih.gov/38086379/
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