C57BL/6JCya-Plecem1flox/Cya
Common Name:
Plec-flox
Product ID:
S-CKO-04343
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Plec-flox
Strain ID
CKOCMP-18810-Plec-B6J-VA
Gene Name
Product ID
S-CKO-04343
Gene Alias
EBS1; PCN; PLTN; Plec1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
15
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Plecem1flox/Cya mice (Catalog S-CKO-04343) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000073418
NCBI RefSeq
NM_001163540
Target Region
Exon 8~13
Size of Effective Region
~2.0 kb
Detailed Document
Overview of Gene Research
Plec, encoding plectin, is a gene crucial for cytoskeletal linking of intermediate filaments [1,2,3]. Plectin, a giant cytoskeletal cross-linker and intermediate filament stabilizing protein, consists of three main domains determining its functionality [2]. It is expressed in many cell types and is involved in maintaining the structural integrity of cells [1,2,3]. Genetically manipulated mouse and cell models, such as plectin-deficient mice, are powerful tools to study the functional and molecular consequences of Plec defects [3].
Mutations in the Plec gene lead to a group of rare heritable disorders called plectinopathies [2]. These include autosomal dominant epidermolysis bullosa simplex (EBS-Ogna), limb-girdle muscular dystrophy (LGMD), aplasia cutis congenita (ACC), and autosomal recessive forms like EBS with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA), and/or congenital myasthenic syndrome (EBS-MyS) [2]. Skeletal muscle biopsies from EBS-MD patients and plectin-deficient mice showed severe dystrophic features, including variation in fiber size, degenerative myofibrillar changes, mitochondrial alterations, and pathological desmin-positive protein aggregates [3]. Ultrastructurally, Plec mutations cause disorganization of myofibrils and sarcomeres, Z-and I-band alterations, autophagic vacuoles, cytoplasmic bodies, and misplaced and degenerating mitochondria [3]. In addition, novel Plec variants have been associated with infantile cholestasis [1]. Immunofluorescence staining of liver samples from affected infants revealed abnormal plectin signals and reduced colocalization with cytokeratin 8 [1].
In conclusion, Plec is essential for maintaining cytoskeletal integrity in various cell types. Studies using gene-knockout or conditional-knockout mouse models have significantly contributed to understanding its role in plectinopathies, including skin, muscle, and liver-related disorders such as epidermolysis bullosa, muscular dystrophy, and infantile cholestasis. These findings provide insights into the underlying mechanisms of these diseases and may help develop targeted therapies.
References:
1. Kor-Anantakul, Phawin, Chen, Huey-Ling, Chen, Ya-Hui, Suphapeetiporn, Kanya, Chongsrisawat, Voranush. 2024. Novel PLEC variants associated with infantile cholestasis. In Clinical genetics, 106, 769-775. doi:10.1111/cge.14611. https://pubmed.ncbi.nlm.nih.gov/39168815/
2. 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/
3. 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