C57BL/6JCya-Ccdc88cem1/Cya
Common Name
Ccdc88c-KO
Product ID
S-KO-20445
Backgroud
C57BL/6JCya
Strain ID
KOCMP-68339-Ccdc88c-B6J-VB
Status
When using this mouse strain in a publication, please cite “Ccdc88c-KO Mouse (Catalog S-KO-20445) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Ccdc88c-KO
Strain ID
KOCMP-68339-Ccdc88c-B6J-VB
Gene Name
Product ID
S-KO-20445
Gene Alias
Daple, mKIAA1509, 0610010D24Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 12
Phenotype
Datasheet
Application
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Strain Description
Ensembl Number
ENSMUST00000068411
NCBI RefSeq
NM_026681
Target Region
Exon 5~10
Size of Effective Region
~5.8 kb
Overview of Gene Research
CCDC88C, encoding coiled-coil domain containing 88C, is crucial for cell communication during neural development. It is a component of non-canonical Wnt signaling and may contribute to ependymal cell planar polarity by inhibiting the non-canonical Wnt signaling pathway. It also interacts with MPDZ and PARD3 [3].
CCDC88C variants have been associated with multiple diseases. In epilepsy, de novo and biallelic variants were identified in patients with focal epilepsy. De novo variants led to adult-onset epilepsy, while biallelic variants caused infant-onset epilepsy, and all patients responded well to anti-seizure medications [1]. In breast cancer, CCDC88C was found to drive breast cancer metastasis by promoting c-JUN-mediated CEMIP transcription, and its stability was maintained by GALNT6-mediated O-linked glycosylation [2]. In congenital hydrocephalus, pathogenic variants in CCDC88C were related to specific neuropathological hallmarks such as multifocal atresia-forking in the brain [3]. Additionally, CCDC88C mutations were linked to spinocerebellar ataxia (SCA40) and early-onset pure spastic paraplegia [4,5,6,7].
In conclusion, CCDC88C plays essential roles in neural development and cell communication, with its dysregulation contributing to various neurological and cancer-related diseases. The study of CCDC88C variants in different disease models helps in understanding the genotype-phenotype correlations and the underlying molecular mechanisms, which may provide insights for disease diagnosis and treatment.
References：
1. Chen, Yu-Jie, Wang, Wen-Jie, Zou, Dong-Fang, Li, Bin, Chen, Yong-Jun. 2024. CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation. In Clinical genetics, 105, 397-405. doi:10.1111/cge.14476. https://pubmed.ncbi.nlm.nih.gov/38173219/
2. Deng, Boya, Zhang, Siyang, Zhou, Yingying, Li, Ailin, Miao, Yuan. 2024. CCDC88C, an O-GalNAc glycosylation substrate of GALNT6, drives breast cancer metastasis by promoting c-JUN-mediated CEMIP transcription. In Cancer cell international, 24, 237. doi:10.1186/s12935-024-03413-2. https://pubmed.ncbi.nlm.nih.gov/38971758/
3. Marguet, Florent, Vezain, Myriam, Marcorelles, Pascale, Laquerriere, Annie, Saugier-Veber, Pascale. 2021. Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants. In Acta neuropathologica communications, 9, 104. doi:10.1186/s40478-021-01207-5. https://pubmed.ncbi.nlm.nih.gov/34092257/
4. Chai, Senmao, Liu, Deyang, Liu, Yajing, Sang, Ming. 2023. A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia. In Human heredity, 88, 91-97. doi:10.1159/000534692. https://pubmed.ncbi.nlm.nih.gov/37899026/
5. Caputo, Donatella, Cetica, Valentina, Paoli, Silvia, Rosati, Anna, Lazzeri, Simone. 2023. Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia. In Movement disorders : official journal of the Movement Disorder Society, 38, 1561-1562. doi:10.1002/mds.29459. https://pubmed.ncbi.nlm.nih.gov/37317935/
6. Boros, Fanni Annamária, Szpisjak, László, Bozó, Renáta, Széll, Márta, Ádám, Éva. 2023. Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene. In International journal of molecular sciences, 24, . doi:10.3390/ijms24032617. https://pubmed.ncbi.nlm.nih.gov/36768938/
7. Yahia, Ashraf, Chen, Zhefan Stephen, Ahmed, Ammar E, Chan, Ho Yin Edwin, Stevanin, Giovanni. 2021. A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. In BMC neurology, 21, 78. doi:10.1186/s12883-021-02113-y. https://pubmed.ncbi.nlm.nih.gov/33602173/
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
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