Logo
Homepage
Explore Our Models
My Cart
Contact
Subscribe
Models
Genetically Engineered Animals
Knockout Mice
Knockout Rats
Knockin Mice
Knockin Rats
Transgenic Mice
Transgenic Rats
Model Generation Techniques
Turboknockout<sup>®</sup> Gene Targeting
ES Cell Gene Targeting
Targeted Gene Editing
Regular Transgenic
PiggyBac Transgenesis
BAC Transgenic
Research Models
HUGO-GT™ Humanized Mice
Cre Mouse Lines
Humanized Target Gene Models
Metabolic Disease Models
Ophthalmic Disease Models
Neurological Disease Models
Autoimmune Disease Models
Immunodeficient Mouse Models
Humanized Immune System Mouse Models
Oncology & Immuno-oncology Models
Covid-19 Mouse Models
MouseAtlas Model Library
Knockout Cell Line Product Catalog
Tumor Cell Line Product Catalog
AAV Standard Product Catalog
Animal Supporting Services
Breeding Services
Cryopreservation & Recovery
Phenotyping Services
BAC Modification
Custom Cell Line Models
Induced Pluripotent Stem Cells (iPSCs)
Knockout Cell Lines
Knockin Cell Lines
Point Mutation Cell Lines
Overexpression Cell Lines
Virus Packaging
Adeno-associated Virus (AAV) Packaging
Lentivirus Packaging
Adenovirus Packaging
CRO Services
By Therapeutic Area
Oncology
Ophthalmology
Neuroscience
Metabolic & Cardiovascular Diseases
Autoimmune & Inflammatory
By Drug Type
AI-Powered AAV Discovery
Gene Therapy
Oligonucleotide Therapy
Antibody Therapy
Cell Immunotherapy
Resources
Promotion
Events & Webinars
Newsroom
Blogs & Insights
Resource Vault
Reference Databases
Peer-Reviewed Citations
Rare Disease Data Center
AbSeek
Cell iGeneEditor™ System
OriCell
Quality
Facility Overview
Animal Health & Welfare
Health Reports
About Us
Corporate Overview
Our Partners
Careers
Contact Us
Login
Request a Product Quote
Select products from our catalogs and submit your request. Our team will get back to you with detailed information.
Full Name
Email
Phone Number
Organization
Job Role
Country
Catalog Type
Product Name
Additional Comments
Cyagen values your privacy. We’d like to keep you informed about our latest offerings and insights. Your preferences:
You may unsubscribe from these communications at any time. See our Privacy Policy for details on opting out and data protection.
By clicking the button below, you consent to allow Cyagen to store and process the personal information submitted in this form to provide you the content requested.
C57BL/6JCya-Doc2aem1/Cya
Common Name:
Doc2a-KO
Product ID:
S-KO-01789
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Doc2a-KO
Strain ID
KOCMP-13446-Doc2a-B6J-VA
Gene Name
Doc2a
Product ID
S-KO-01789
Gene Alias
--
Background
C57BL/6JCya
NCBI ID
13446
Modification
Conventional knockout
Chromosome
7
Phenotype
MGI:109446
Document
Click here to download >>
Application
--
More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Doc2aem1/Cya mice (Catalog S-KO-01789) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000064110
NCBI RefSeq
NM_010069
Target Region
Exon 2~5
Size of Effective Region
~1.1 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Doc2a, also known as Double C2 domain alpha, is a calcium-sensitive protein involved in vesicle exocytosis, specifically regulating spontaneous synaptic transmission and Ca2+-dependent neurotransmitter release. It is part of the pathways related to synaptic function and has significance in maintaining normal neural communication [1,2]. Genetic models, like the zebrafish model, have been useful in studying its functions [3].

In temporal lobe epilepsy (TLE), the expression of DOC2A is significantly increased in both human patients and rat models of TLE. Its localization is observed in neurons, particularly at presynaptic terminals where it colocalizes with VMAT2, suggesting its abnormal expression may play a role in epilepsy [1]. In zebrafish, doc2a+/- fam57ba+/- double heterozygotes show hyperactivity and increased seizure susceptibility, along with increased body length and head size, indicating its role in regulating brain and body phenotypes related to 16p11.2 deletion-associated symptoms [3]. In STXBP1 encephalopathies, the synaptic levels of Doc2A are unstable in the absence of Munc18-1 and aggregate in the presence of disease-causing Munc18-1 mutants, suggesting its involvement in this neurological disorder [4]. In Hirschsprung's disease, down-regulation of DOC2A promotes the formation of hyperplastic nerve fibers in aganglionic segments, with UNC13B possibly being a downstream molecule [5].

In conclusion, Doc2a plays crucial roles in synaptic function and exocytosis. Studies using gene-modified models, such as those in zebrafish, have revealed its associations with epilepsy, 16p11.2-related phenotypes, STXBP1 encephalopathies, and Hirschsprung's disease. These findings contribute to understanding the molecular mechanisms underlying these diseases and may offer potential therapeutic targets.

References:

1. Hu, Xiao, Tang, Jun, Lan, Xiaofang, Mi, Xiujuan. 2019. Increased expression of DOC2A in human and rat temporal lobe epilepsy. In Epilepsy research, 151, 78-84. doi:10.1016/j.eplepsyres.2019.02.008. https://pubmed.ncbi.nlm.nih.gov/30844661/

2. Groffen, Alexander J A, Friedrich, Reut, Brian, Elisabeth C, Ashery, Uri, Verhage, Matthijs. 2006. DOC2A and DOC2B are sensors for neuronal activity with unique calcium-dependent and kinetic properties. In Journal of neurochemistry, 97, 818-33. doi:. https://pubmed.ncbi.nlm.nih.gov/16515538/

3. McCammon, Jasmine M, Blaker-Lee, Alicia, Chen, Xiao, Sive, Hazel. . The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes. In Human molecular genetics, 26, 3699-3712. doi:10.1093/hmg/ddx255. https://pubmed.ncbi.nlm.nih.gov/28934389/

4. Guiberson, Noah Guy Lewis, Black, Luca S, Haller, Jillian E, Sharma, Manu, Burré, Jacqueline. . Disease-linked mutations in Munc18-1 deplete synaptic Doc2. In Brain : a journal of neurology, 147, 2185-2202. doi:10.1093/brain/awae019. https://pubmed.ncbi.nlm.nih.gov/38242640/

5. Xiao, Jun, Meng, Xinyao, Chen, Ke, Feng, Jiexiong, Li, Zhi. 2022. Down-Regulation of Double C2 Domain Alpha Promotes the Formation of Hyperplastic Nerve Fibers in Aganglionic Segments of Hirschsprung's Disease. In International journal of molecular sciences, 23, . doi:10.3390/ijms231810204. https://pubmed.ncbi.nlm.nih.gov/36142117/

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
Model Library
Model Library
Resources
Resources
Animal Quality
Animal Quality
Get Support
Get Support
Address:
2255 Martin Avenue, Suite E Santa Clara, CA 95050-2709, US
Tel:
800-921-8930 (8-6pm PST)
+1408-963-0306 (lnt’l)
Fax:
408-969-0338
Email:
animal-service@cyagen.com
service@cyagen.us
CRO Services
OncologyOphthalmologyNeuroscienceMetabolic & CardiovascularAutoimmune & InflammatoryGene TherapyAntibody Therapy
About Us
Corporate OverviewOur PartnersCareersContact Us
Social Media
Disclaimer: Pricing and availability of our products and services vary by region. Listed prices are applicable to the specific countries. Please contact us for more information.
Copyright © 2025 Cyagen. All rights reserved.
Privacy Policy
Site Map
Stay Updated with the Latest from Cyagen
Get the latest news on our research models, CRO services, scientific resources, and special offers—tailored to your research needs and delivered straight to your inbox.
Full Name
Email
Organization
Country
Areas of Interest