C57BL/6JCya-Ccdc136em1/Cya
Common Name:
Ccdc136-KO
Product ID:
S-KO-06548
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ccdc136-KO
Strain ID
KOCMP-232664-Ccdc136-B6J-VA
Gene Name
Product ID
S-KO-06548
Gene Alias
4921511K06Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
6
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ccdc136em1/Cya mice (Catalog S-KO-06548) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000096084
NCBI RefSeq
NM_001347071
Target Region
Exon 5~13
Size of Effective Region
~11.3 kb
Detailed Document
Overview of Gene Research
Ccdc136, or coiled-coil domain containing 136, is a gene with diverse functions. It has been implicated in multiple biological processes and diseases. In the context of male reproduction, it is crucial for spermatogenesis, specifically acrosome formation and fertilization [1]. In zebrafish, it plays a role in dorsal-ventral axial patterning by antagonizing the Wnt/β-catenin signaling pathway [4]. Additionally, it has been associated with reading and language phenotypes [2,3,5,6].
In mouse models, Ccdc136-knockout (KO) males were infertile due to a severe defect in acrosome formation. The expression levels of proteins involved in acrosome formation were significantly downregulated in the testes of Ccdc136(-/-) mice compared to wild-type mice. Also, in vitro fertilization assay showed that anti-CCDC136 antibody could inhibit fertilization, demonstrating its essential role in fertilization [1]. In zebrafish, loss-and gain-of-function experiments showed that Ccdc136b (an ortholog) is a crucial negative regulator of the Wnt/β-catenin signaling pathway, and its morphants display strongly dorsalized phenotypes [4].
In conclusion, Ccdc136 is essential for acrosome formation and fertilization in mice, and for dorsal-ventral axial patterning in zebrafish. The gene knockout mouse models have been instrumental in revealing its role in male infertility. Additionally, its association with reading and language phenotypes indicates its potential importance in neurodevelopmental aspects, though further research is needed to fully understand these functions [1,2,3,4,5,6].
References:
1. Geng, Qiang, Ni, Liwei, Ouyang, Bin, Zhao, Yu, Guo, Jun. 2016. A Novel Testis-Specific Gene, Ccdc136, Is Required for Acrosome Formation and Fertilization in Mice. In Reproductive sciences (Thousand Oaks, Calif.), 23, 1387-96. doi:10.1177/1933719116641762. https://pubmed.ncbi.nlm.nih.gov/27076447/
2. Adams, Andrew K, Smith, Shelley D, Truong, Dongnhu T, Pennington, Bruce F, Gruen, Jeffrey R. 2017. Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC. In Human genetics, 136, 1395-1405. doi:10.1007/s00439-017-1838-z. https://pubmed.ncbi.nlm.nih.gov/28866788/
3. Gialluisi, Alessandro, Guadalupe, Tulio, Francks, Clyde, Fisher, Simon E. 2016. Neuroimaging genetic analyses of novel candidate genes associated with reading and language. In Brain and language, 172, 9-15. doi:10.1016/j.bandl.2016.07.002. https://pubmed.ncbi.nlm.nih.gov/27476042/
4. Wei, Shi, Shang, Hanqiao, Cao, Yu, Wang, Qiang. 2016. The coiled-coil domain containing protein Ccdc136b antagonizes maternal Wnt/β-catenin activity during zebrafish dorsoventral axial patterning. In Journal of genetics and genomics = Yi chuan xue bao, 43, 431-8. doi:10.1016/j.jgg.2016.05.003. https://pubmed.ncbi.nlm.nih.gov/27477027/
5. Gialluisi, A, Newbury, D F, Wilcutt, E G, Francks, C, Fisher, S E. 2014. Genome-wide screening for DNA variants associated with reading and language traits. In Genes, brain, and behavior, 13, 686-701. doi:10.1111/gbb.12158. https://pubmed.ncbi.nlm.nih.gov/25065397/
6. Unger, Nina, Heim, Stefan, Hilger, Dominique I, Amunts, Katrin, Mühleisen, Thomas W. 2021. Identification of Phonology-Related Genes and Functional Characterization of Broca's and Wernicke's Regions in Language and Learning Disorders. In Frontiers in neuroscience, 15, 680762. doi:10.3389/fnins.2021.680762. https://pubmed.ncbi.nlm.nih.gov/34539327/
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