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C57BL/6JCya-Pls3em1/Cya
Common Name:
Pls3-KO
Product ID:
S-KO-00281
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Pls3-KO
Strain ID
KOCMP-102866-Pls3-B6J-VA
Gene Name
Pls3
Product ID
S-KO-00281
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
102866
Modification
Conventional knockout
Chromosome
X
Phenotype
MGI:104807
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pls3em1/Cya mice (Catalog S-KO-00281) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033547
NCBI RefSeq
NM_145629
Target Region
Exon 4~10
Size of Effective Region
~11.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Pls3, encoding T-plastin, is an actin-bundling protein that mediates the formation of actin filaments, regulating numerous cellular processes [3]. It has a broad expression pattern and is involved in bone-related functions, potentially through pathways such as mechanotransduction, calcium regulation, vesicle trafficking, cell differentiation, and mineralization [1].

Loss-of-function genetic defects in PLS3 cause X-linked osteoporosis and childhood-onset fractures [3]. In zebrafish, morpholino-mediated pls3 knockdown was used to study functional compensation by actin-bundling proteins. Results showed that ACTN1 and ACTN4 can rescue skeletal deformities after pls3 knockdown, while FSCN1 was inadequate [3]. A mouse knockin model of a PLS3 variant (c.1497G>C, p.Trp499Cys) identified in a family with congenital diaphragmatic hernia (CDH) showed partial perinatal lethality and recapitulated the human phenotype, including diaphragm and abdominal-wall defects. Interestingly, both this mouse model and an adult human male with a CDH-associated PLS3 variant had increased bone mineral density, indicating that specific PLS3 missense variants might have a gain-of-function effect [2].

In summary, Pls3 is crucial for actin-filament-related cellular processes. Mouse models, such as the knockin model for CDH-associated PLS3 variants and zebrafish with pls3 knockdown, have revealed its role in bone-related diseases like osteoporosis and in non-bone conditions like CDH. These models contribute to understanding the complex functions of Pls3 in different biological processes and disease conditions [2,3].

References:

1. Zhong, Wenchao, Pathak, Janak L, Liang, Yueting, Bravenboer, Nathalie, Micha, Dimitra. 2023. The intricate mechanism of PLS3 in bone homeostasis and disease. In Frontiers in endocrinology, 14, 1168306. doi:10.3389/fendo.2023.1168306. https://pubmed.ncbi.nlm.nih.gov/37484945/

2. Petit, Florence, Longoni, Mauro, Wells, Julie, Donahoe, Patricia K, High, Frances A. 2023. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. In American journal of human genetics, 110, 1787-1803. doi:10.1016/j.ajhg.2023.09.002. https://pubmed.ncbi.nlm.nih.gov/37751738/

3. Zhong, Wenchao, Neugebauer, Janine, Pathak, Janak L, Wirth, Brunhilde, Micha, Dimitra. 2024. Functional Insights in PLS3-Mediated Osteogenic Regulation. In Cells, 13, . doi:10.3390/cells13171507. https://pubmed.ncbi.nlm.nih.gov/39273077/

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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