C57BL/6JCya-Capn3em1/Cya
Common Name:
Capn3-KO
Product ID:
S-KO-18148
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Capn3-KO
Strain ID
KOCMP-12335-Capn3-B6J-VB
Gene Name
Product ID
S-KO-18148
Gene Alias
Capa-3; Capa3; Lp82; p94
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Capn3em1/Cya mice (Catalog S-KO-18148) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000028749
NCBI RefSeq
NM_007601
Target Region
Exon 2~10
Size of Effective Region
~13.0 kb
Detailed Document
Overview of Gene Research
Capn3, also known as p94 or calpain-3, is a muscle-specific Ca2+-dependent cysteine protease. It has unique N-terminus and insertion sequence 1 and 2 domains, conferring characteristics like rapid autolysis, Ca2+-independent activation and Na+ activation. CAPN3 is involved in promoting calcium release from skeletal muscle fibers, calcium uptake of sarcoplasmic reticulum, muscle formation and remodeling [1,2]. It is also part of the nucleolus-localized Def-CAPN3 protein degradation pathway which is essential to ribosome production and cell-cycle progression [3].
Mutations in CAPN3 cause limb-girdle muscular dystrophy (MD) type 2A and other types of MD. Recessive mutations in CAPN3 are responsible for limb-girdle muscular dystrophy type 2A, and the c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related, presenting a mild/medium severity phenotype [1,4,5]. There are also reports of autosomal dominant calpainopathies associated with CAPN3 variants [6]. In titinopathy, CAPN3-mediated processing of C-terminal titin is disrupted due to CAPN3 deficiency [7].
In conclusion, CAPN3 is crucial for muscle-related physiological functions. Research on CAPN3, especially through studies of its mutations in disease models, has significantly enhanced our understanding of the pathogenesis of limb-girdle muscular dystrophies and other related muscle disorders, providing potential directions for future therapeutic strategies.
References:
1. Chen, Lin, Tang, Fajuan, Gao, Hu, Li, Xihong, Xiao, Dongqiong. 2021. CAPN3: A muscle‑specific calpain with an important role in the pathogenesis of diseases (Review). In International journal of molecular medicine, 48, . doi:10.3892/ijmm.2021.5036. https://pubmed.ncbi.nlm.nih.gov/34549305/
2. Ono, Yasuko, Ojima, Koichi, Shinkai-Ouchi, Fumiko, Hata, Shoji, Sorimachi, Hiroyuki. 2015. An eccentric calpain, CAPN3/p94/calpain-3. In Biochimie, 122, 169-87. doi:10.1016/j.biochi.2015.09.010. https://pubmed.ncbi.nlm.nih.gov/26363099/
3. Zhao, Shuyi, Huang, Delai, Peng, Jinrong. 2021. Nucleolus-localized Def-CAPN3 protein degradation pathway and its role in cell cycle control and ribosome biogenesis. In Journal of genetics and genomics = Yi chuan xue bao, 48, 955-960. doi:10.1016/j.jgg.2021.06.011. https://pubmed.ncbi.nlm.nih.gov/34452850/
4. Mroczek, Magdalena, Inashkina, Inna, Stavusis, Janis, Burnyte, Birute, Lace, Baiba. 2022. CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related. In Human mutation, 43, 1347-1353. doi:10.1002/humu.24421. https://pubmed.ncbi.nlm.nih.gov/35731190/
5. Lasa-Elgarresta, Jaione, Mosqueira-Martín, Laura, Naldaiz-Gastesi, Neia, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara. 2019. Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations. In International journal of molecular sciences, 20, . doi:10.3390/ijms20184548. https://pubmed.ncbi.nlm.nih.gov/31540302/
6. Cerino, M, Campana-Salort, E, Salvi, A, Krahn, M, Attarian, S. 2020. Novel CAPN3 variant associated with an autosomal dominant calpainopathy. In Neuropathology and applied neurobiology, 46, 564-578. doi:10.1111/nan.12624. https://pubmed.ncbi.nlm.nih.gov/32342993/
7. Charton, Karine, Sarparanta, Jaakko, Vihola, Anna, Richard, Isabelle, Udd, Bjarne. 2015. CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. In Human molecular genetics, 24, 3718-31. doi:10.1093/hmg/ddv116. https://pubmed.ncbi.nlm.nih.gov/25877298/
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