C57BL/6JCya-Plecem1/Cya
Common Name
Plec-KO
Product ID
S-KO-03708
Backgroud
C57BL/6JCya
Strain ID
KOCMP-18810-Plec-B6J-VA
When using this mouse strain in a publication, please cite “Plec-KO Mouse (Catalog S-KO-03708) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Plec-KO
Strain ID
KOCMP-18810-Plec-B6J-VA
Gene Name
Product ID
S-KO-03708
Gene Alias
EBS1, PCN, PLTN, Plec1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 15
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000073418
NCBI RefSeq
NM_001163540
Target Region
Exon 8~13
Size of Effective Region
~1.4 kb
Overview of Gene Research
PLEC, encoding plectin, is a gene crucial for cytoskeletal function as plectin serves as a linker of intermediate filaments, expressed in numerous cell types. Plectin consists of three main domains determining its functionality, and it is involved in pathways related to cell structure and organization, which is of overall biological importance for maintaining cell integrity. Genetically manipulated mouse and cell models, including those that are plectin-deficient or lack a specific skeletal-muscle-expressed plectin isoform, are powerful tools for functional studies of PLEC [1,2].
Molecular defects of PLEC lead to a group of rare heritable disorders called plectinopathies. These include autosomal dominant epidermolysis bullosa simplex (EBS-Ogna), limb-girdle muscular dystrophy (LGMD), aplasia cutis congenita (ACC), and autosomal recessive forms such as EBS with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA), and/or congenital myasthenic syndrome (EBS-MyS). In EBS-MD patients and plectin-deficient mice, skeletal muscle biopsies show severe dystrophic features like fiber size variation, myofibrillar changes, mitochondrial alterations, and protein aggregates. Ultrastructurally, there are myofibril and sarcomere disorganization. These mouse models reveal PLEC's role in maintaining normal muscle structure and function [1,2].
In conclusion, PLEC is essential for cytoskeletal organization and maintaining cell integrity, especially in muscle cells. The study of PLEC-deficient mouse models has significantly contributed to understanding its role in plectinopathies, highlighting its importance in muscle-related disease areas.
References:
1. Vahidnezhad, Hassan, Youssefian, Leila, Harvey, Nailah, Zeinali, Sirous, Uitto, Jouni. 2022. Mutation update: The spectra of PLEC sequence variants and related plectinopathies. In Human mutation, 43, 1706-1731. doi:10.1002/humu.24434. https://pubmed.ncbi.nlm.nih.gov/35815343/
2. Zrelski, Michaela M, Kustermann, Monika, Winter, Lilli. 2021. Muscle-Related Plectinopathies. In Cells, 10, . doi:10.3390/cells10092480. https://pubmed.ncbi.nlm.nih.gov/34572129/
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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