C57BL/6JCya-Cntnap2em1flox/Cya
Common Name:
Cntnap2-flox
Product ID:
S-CKO-17468
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Cntnap2-flox
Strain ID
CKOCMP-66797-Cntnap2-B6J-VA
Gene Name
Product ID
S-CKO-17468
Gene Alias
5430425M22Rik; Caspr2; mKIAA0868
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
6
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cntnap2em1flox/Cya mice (Catalog S-CKO-17468) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000114641
NCBI RefSeq
NM_001004357
Target Region
Exon 3
Size of Effective Region
~3.1 kb
Detailed Document
Overview of Gene Research
Cntnap2, or contactin associated protein like 2, encodes a single transmembrane protein with 1331 amino acid residues. It is specifically expressed in the nervous system and plays versatile roles in axonal organization, synaptic functions, neuronal migration, and functional connectivity [2,7]. CNTNAP2 has been widely investigated as a risk gene for multiple neurodevelopmental disorders, including autism spectrum disorders (ASD), epilepsy, and others [1,2,4,5,6]. Mouse models based on human disease-causing mutations in Cntnap2 provide the potential for understanding its gene function and for developing novel treatments [1].
Cntnap2 knockout (KO) mice exhibit deficits in the three core ASD behavioral domains, hyperactivity, and epileptic seizures, paralleling human phenotypes with CNTNAP2 mutations. Neuropathological and physiological analyses before seizure onset in these mice show neuronal migration abnormalities, a reduced number of interneurons, and abnormal neuronal network activity [1]. Virally delivering the CNTNAP2 intracellular domain (CICD), produced by γ-secretase cleavage, to the medial prefrontal cortex of Cntnap2-deficient mice normalizes ASD-related behavioral deficits [2]. Oxytocin administration to Cntnap2 KO mice rescues social deficits, normalizes connectivity patterns, and restores oxytocin immunoreactivity in the paraventricular nucleus of the hypothalamus [3,5]. Intragenic deletions of CNTNAP2 may disrupt its ability to bridge the intercellular space between neurons, potentially contributing to neuronal hypoconnectivity in neurodevelopmental disorders [4].
In conclusion, model-based research reveals that Cntnap2 is crucial for proper brain development and normal neuronal function. Cntnap2 KO mouse models have significantly contributed to understanding the role of Cntnap2 in ASD and other neurodevelopmental disorders, providing new tools for mechanistic and therapeutic research in these disease areas [1,2,3,4,5].
References:
1. Peñagarikano, Olga, Abrahams, Brett S, Herman, Edward I, Peles, Elior, Geschwind, Daniel H. . Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. In Cell, 147, 235-46. doi:10.1016/j.cell.2011.08.040. https://pubmed.ncbi.nlm.nih.gov/21962519/
2. Zhang, Jing, Cai, Fang, Lu, Renbin, Song, Weihong, Li, Jia-Da. 2023. CNTNAP2 intracellular domain (CICD) generated by γ-secretase cleavage improves autism-related behaviors. In Signal transduction and targeted therapy, 8, 219. doi:10.1038/s41392-023-01431-6. https://pubmed.ncbi.nlm.nih.gov/37271769/
3. Choe, Katrina Y, Bethlehem, Richard A I, Safrin, Martin, Harris, Neil G, Geschwind, Daniel H. 2021. Oxytocin normalizes altered circuit connectivity for social rescue of the Cntnap2 knockout mouse. In Neuron, 110, 795-808.e6. doi:10.1016/j.neuron.2021.11.031. https://pubmed.ncbi.nlm.nih.gov/34932941/
4. Poot, Martin. 2017. Intragenic CNTNAP2 Deletions: A Bridge Too Far? In Molecular syndromology, 8, 118-130. doi:10.1159/000456021. https://pubmed.ncbi.nlm.nih.gov/28588433/
5. Peñagarikano, Olga, Lázaro, María T, Lu, Xiao-Hong, Golshani, Peyman, Geschwind, Daniel H. . Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism. In Science translational medicine, 7, 271ra8. doi:10.1126/scitranslmed.3010257. https://pubmed.ncbi.nlm.nih.gov/25609168/
6. Poot, Martin. 2015. Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders. In Molecular syndromology, 6, 7-22. doi:10.1159/000371594. https://pubmed.ncbi.nlm.nih.gov/25852443/
7. Zhang, Qing, Sterling, Keenan, Xu, Lu, Bestard-Lorigados, Isabel, Song, Weihong. 2023. CNTNAP2 Protein Is Degraded by the Ubiquitin-Proteasome System and the Macroautophagy-Lysosome Pathway. In Molecular neurobiology, 60, 2455-2469. doi:10.1007/s12035-023-03227-9. https://pubmed.ncbi.nlm.nih.gov/36658382/
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