C57BL/6JCya-Ppp2r5dem1flox/Cya
Common Name:
Ppp2r5d-flox
Product ID:
S-CKO-06181
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ppp2r5d-flox
Strain ID
CKOCMP-21770-Ppp2r5d-B6J-VA
Gene Name
Product ID
S-CKO-06181
Gene Alias
B'delta; TEG-271; Tex271
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ppp2r5dem1flox/Cya mice (Catalog S-CKO-06181) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000233988
NCBI RefSeq
NM_001357684
Target Region
Exon 3~11
Size of Effective Region
~3.4 kb
Detailed Document
Overview of Gene Research
Ppp2r5d, encoding the protein PPP2R5D (also known as the B56 delta subunit), is an isoform of the subunit family B56 of the enzyme serine/threonine-protein phosphatase 2A (PP2A). PP2A, along with protein phosphatase 1 (PP1), accounts for over 90% of all phospho-serine/threonine dephosphorylations in different tissues. The PPP2A-PPP2R5D holoenzyme is crucial for maintaining neurons, regulating neuronal signaling, and is highly expressed in the brain [2].
Germline de novo mutations in the PPP2R5D gene lead to PPP2R5D-related intellectual disability (ID) and neurodevelopmental delay. Clinical signs include ID, autism spectrum disorder (ASD), epilepsy, speech problems, and various malformations [2]. A study on 76 individuals with PPP2R5D variants found common phenotypes such as language, intellectual or learning disabilities, hypotonia, macrocephaly, seizures, and ASD. Functional analysis of pathogenic variants revealed impaired PP2A A/C-subunit binding, decreased short-linear interaction motif-dependent substrate binding, or both, supporting a dominant-negative disease mechanism [1]. Some individuals also presented with early-onset parkinsonism, expanding the clinical spectrum of PPP2R5D-related disorders [3,5]. Additionally, PPP2R5D has been shown to promote hepatitis C virus infection by binding to viral NS5B and enhancing viral RNA replication [4].
In conclusion, Ppp2r5d is essential for normal neurodevelopment as its mutations lead to a range of neurodevelopmental disorders. The study of Ppp2r5d-related mutations in individuals has provided insights into the molecular mechanisms underlying these disorders, highlighting its importance in neuronal function and disease etiology. Also, its role in viral infection adds another dimension to its biological significance.
References:
1. Oyama, Nora, Vaneynde, Pieter, Reynhout, Sara, Chung, Wendy, Mirzaa, Ghayda M. 2022. Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. In Journal of medical genetics, 60, 511-522. doi:10.1136/jmg-2022-108713. https://pubmed.ncbi.nlm.nih.gov/36216457/
2. Biswas, Dayita, Cary, Whitney, Nolta, Jan A. 2020. PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder. In International journal of molecular sciences, 21, . doi:10.3390/ijms21041286. https://pubmed.ncbi.nlm.nih.gov/32074998/
3. Yau, Wai Yan, Vijayan, Srimathy, Ravenscroft, Gianina. 2024. PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report. In Parkinsonism & related disorders, 124, 106976. doi:10.1016/j.parkreldis.2024.106976. https://pubmed.ncbi.nlm.nih.gov/38718479/
4. Anwar, Muhammad Ikram, Li, Ni, Zhou, Qing, Li, Yi-Ping, Zhou, Yuanping. 2022. PPP2R5D promotes hepatitis C virus infection by binding to viral NS5B and enhancing viral RNA replication. In Virology journal, 19, 118. doi:10.1186/s12985-022-01848-5. https://pubmed.ncbi.nlm.nih.gov/35836293/
5. Hetzelt, Katalin L M L, Kerling, Frank, Kraus, Cornelia, Reis, André, Zweier, Christiane. 2020. Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder. In European journal of medical genetics, 64, 104123. doi:10.1016/j.ejmg.2020.104123. https://pubmed.ncbi.nlm.nih.gov/33338668/
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