C57BL/6JCya-Pax2em1/Cya
Common Name
Pax2-KO
Product ID
S-KO-03559
Backgroud
C57BL/6JCya
Strain ID
KOCMP-18504-Pax2-B6J-VA
Status
When using this mouse strain in a publication, please cite “Pax2-KO Mouse (Catalog S-KO-03559) 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
Pax2-KO
Strain ID
KOCMP-18504-Pax2-B6J-VA
Gene Name
Product ID
S-KO-03559
Gene Alias
Opdc, Pax-2
Background
C57BL/6JCya
Gene Full Name
paired box 2
Modification
Conventional knockout
NCBI ID
Phenotype
Chromosome
Chr 19 (Mouse)
Application
--
Datasheet
Strain Description
Ensembl Transcript ID
ENSMUST00000174490
NCBI Transcript ID
NM_011037
Target Region
Exon 2~3
Size of Effective Region
~1.0 kb
Overview of Gene Research
PAX2, a member of the PAX family of transcription factors, is essential for the development of the urinary system, along with other transcription factors. It is involved in the development processes, emergence of nephrons and collecting tubes from the seventh week of gestation [1]. PAX2 also plays a role in neurodevelopment, with its mutations associated with neurodevelopmental disorders such as intellectual disability, epilepsy, and autism spectrum disorders [2].
Mutations in the human PAX2 gene can lead to congenital anomalies of the kidneys and urinary tract (CAKUT), and in some cases, renal coloboma syndrome, which involves both renal anomalies and eye involvement [1,3]. Animal models, like the Pax2A220G/+ mouse model, have shown that Pax2 is important for glomerular repair. Mice with this missense variant have reduced nephron numbers, are more susceptible to glomerular disease after podocyte injury, and have impaired parietal epithelial cell (PEC)-mediated podocyte regeneration [4].
In summary, PAX2 is crucial for the normal development of the urinary and nervous systems. Through model-based research, especially the Pax2-related mouse models, we have gained insights into its role in kidney development, glomerular repair, and its association with diseases such as CAKUT and renal coloboma syndrome, as well as neurodevelopmental disorders.
References:
1. Muntean, Carmen, Chirtes, Camelia, Baczoni, Balazs, Banescu, Claudia. 2023. PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms241612737. https://pubmed.ncbi.nlm.nih.gov/37628926/
2. Lv, Na, Wang, Ying, Zhao, Min, Dong, Lina, Wei, Hongen. 2021. The Role of PAX2 in Neurodevelopment and Disease. In Neuropsychiatric disease and treatment, 17, 3559-3567. doi:10.2147/NDT.S332747. https://pubmed.ncbi.nlm.nih.gov/34908837/
3. Giovanella, Silvia, Pasini, Andrea, Ligabue, Giulia, Tagliafico, Enrico, Magistroni, Riccardo. 2022. PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability. In Nephron, 147, 120-126. doi:10.1159/000525022. https://pubmed.ncbi.nlm.nih.gov/35790137/
4. Cunanan, Joanna, Rajyam, Sarada Sriya, Sharif, Bedra, John, Rohan, Barua, Moumita. 2024. Mice with a Pax2 missense variant display impaired glomerular repair. In American journal of physiology. Renal physiology, 326, F704-F726. doi:10.1152/ajprenal.00259.2023. https://pubmed.ncbi.nlm.nih.gov/38482556/
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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