C57BL/6JCya-Wasf1em1flox/Cya
Common Name:
Wasf1-flox
Product ID:
S-CKO-17080
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Wasf1-flox
Strain ID
CKOCMP-83767-Wasf1-B6J-VA
Gene Name
Product ID
S-CKO-17080
Gene Alias
Scar; WAVE; WAVE-1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
10
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Wasf1em1flox/Cya mice (Catalog S-CKO-17080) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000105509
NCBI RefSeq
NM_001379453
Target Region
Exon 4
Size of Effective Region
~1.8 kb
Detailed Document
Overview of Gene Research
WASF1, also known as WAVE1, is a key component of the WAVE regulatory complex (WRC) and plays a crucial role in actin polymerization. It acts as a mediator between Rac-GTPase and actin, regulating the dynamics of the actin cytoskeleton, which is essential for many routine physiological functions such as cell motility [3,4].
De novo truncating and missense mutations in WASF1 have been linked to neurodevelopmental disorders. In humans, these mutations can lead to moderate-to-profound intellectual disability, autistic features, and epilepsy. For instance, functional studies using fibroblast cells from affected individuals with specific WASF1 mutations showed a truncated WASF1 and a defect in actin remodeling, providing evidence that de novo heterozygous mutations in WASF1 cause a rare form of intellectual disability [3]. Multiple case reports have identified various WASF1 variants in patients with developmental delay, microcephaly, early-onset seizures, and other neurodevelopmental issues, expanding the understanding of the genotypic and phenotypic spectrum of WASF1-related neurodevelopmental disorder [1,2,5].
In conclusion, WASF1 is vital for actin polymerization and normal cell motility. Research on WASF1-related mutations in human patients has significantly contributed to understanding its role in neurodevelopmental disorders. These findings highlight the importance of WASF1 in normal neurodevelopment and the consequences of its genetic disruption, providing insights into the underlying mechanisms of such disorders.
References:
1. Zhao, Arman, Zhou, Rui, Gu, Qin, Wang, Hongying, Chen, Xuqin. 2021. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review. In Clinica chimica acta; international journal of clinical chemistry, 523, 10-18. doi:10.1016/j.cca.2021.08.030. https://pubmed.ncbi.nlm.nih.gov/34478686/
2. Srivastava, Siddharth, Macke, Erica L, Swanson, Lindsay C, Leppert, Mary L O, Cohen, Julie S. 2021. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. In Brain sciences, 11, . doi:10.3390/brainsci11070931. https://pubmed.ncbi.nlm.nih.gov/34356165/
3. Ito, Yoko, Carss, Keren J, Duarte, Sofia T, Dyack, Sarah, Raymond, F Lucy. 2018. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. In American journal of human genetics, 103, 144-153. doi:10.1016/j.ajhg.2018.06.001. https://pubmed.ncbi.nlm.nih.gov/29961568/
4. Limaye, Ameya J, Whittaker, Matthew K, Bendzunas, George N, Cowell, John K, Kennedy, Eileen J. 2022. Targeting the WASF3 complex to suppress metastasis. In Pharmacological research, 182, 106302. doi:10.1016/j.phrs.2022.106302. https://pubmed.ncbi.nlm.nih.gov/35691539/
5. Shimojima Yamamoto, Keiko, Yanagishita, Tomoe, Yamamoto, Hisako, Sakata, Yasushi, Yamamoto, Toshiyuki. 2021. Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures. In Human genome variation, 8, 43. doi:10.1038/s41439-021-00176-4. https://pubmed.ncbi.nlm.nih.gov/34845217/
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