C57BL/6JCya-Pcdh19em1flox/Cya
Common Name:
Pcdh19-flox
Product ID:
S-CKO-10102
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Pcdh19-flox
Strain ID
CKOCMP-279653-Pcdh19-B6J-VA
Gene Name
Product ID
S-CKO-10102
Gene Alias
B530002L05Rik; Gm717; mKIAA1313
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pcdh19em1flox/Cya mice (Catalog S-CKO-10102) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000149154
NCBI RefSeq
NM_001105245
Target Region
Exon 1
Size of Effective Region
~4.1 kb
Detailed Document
Overview of Gene Research
Pcdh19, encoding protocadherin 19, is a gene located in Xq22 and produces nonclustered delta protocadherin. The protein it encodes is highly expressed during brain development and may play roles in neuronal migration or establishing synaptic connections, potentially regulating gamma-aminobutyric acid type A receptors (GABA(A)(R)) [3,4].
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome. Heterozygous PCDH19 mutations cause this disorder mainly in females due to random X-chromosome inactivation leading to somatic mosaicism and abnormal cellular interference. Studies with zebrafish and murine models have provided insights into the function of PCDH19 during brain development and how its altered function causes the disease, though they fail to fully reproduce the human phenotype. Induced pluripotent stem cell (iPSC) technology, including the development of 3D brain organoids, may help further investigate the pathomechanisms [1,2,5].
In conclusion, Pcdh19 is crucial for brain development, especially in processes related to neuronal migration and synaptic connection establishment. Mouse models and other genetic models have been valuable in understanding its role in the context of PCDH19-related epilepsy, a disorder with unique inheritance patterns. However, more research, including the use of iPSC-based models, is needed to fully understand its function and the disease mechanisms [1,2,3,5].
References:
1. Samanta, Debopam. 2019. PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review. In Pediatric neurology, 105, 3-9. doi:10.1016/j.pediatrneurol.2019.10.009. https://pubmed.ncbi.nlm.nih.gov/32057594/
2. Borghi, Rossella, Magliocca, Valentina, Trivisano, Marina, Bertini, Enrico, Compagnucci, Claudia. 2022. Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids. In International journal of molecular sciences, 23, . doi:10.3390/ijms23073506. https://pubmed.ncbi.nlm.nih.gov/35408865/
3. Depienne, Christel, LeGuern, Eric. 2012. PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. In Human mutation, 33, 627-34. doi:10.1002/humu.22029. https://pubmed.ncbi.nlm.nih.gov/22267240/
4. Moncayo, Juan A, Ayala, Ivan N, Argudo, Jennifer M, Tapia, Christiany M, Ortiz, Juan Fernando. 2022. Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology. In Cureus, 14, e25808. doi:10.7759/cureus.25808. https://pubmed.ncbi.nlm.nih.gov/35822151/
5. Gecz, Jozef, Thomas, Paul Q. 2020. Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics. In Current opinion in genetics & development, 65, 169-175. doi:10.1016/j.gde.2020.06.012. https://pubmed.ncbi.nlm.nih.gov/32726744/
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