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C57BL/6JCya-Lama2em1/Cya
Common Name:
Lama2-KO
Product ID:
S-KO-18991
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Lama2-KO
Strain ID
KOCMP-16773-Lama2-B6J-VA
Gene Name
Lama2
Product ID
S-KO-18991
Gene Alias
5830440B04; dy; mKIAA4087; mer; merosin
Background
C57BL/6JCya
NCBI ID
16773
Modification
Conventional knockout
Chromosome
10
Phenotype
MGI:99912
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Lama2em1/Cya mice (Catalog S-KO-18991) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000092639
NCBI RefSeq
NM_008481
Target Region
Exon 2~3
Size of Effective Region
~8.8 kb
Detailed Document
Click here to download >>
Overview of Gene Research
LAMA2, encoding the α2 subunit of laminin-211 (also known as merosin), is crucial for maintaining the connection between muscle cells and their extracellular environment. Laminin-211 is part of the basement membrane assembly, and its proper function is essential for normal muscle development and function [1,4,6]. Multiple animal models for LAMA2-related dystrophies have been instrumental in advancing the understanding of laminin-211 and its role in the disease [1].

Mutations in the LAMA2 gene lead to LAMA2-related dystrophies (LAMA2-RDs), which include both complete and partial merosin deficiency. Complete merosin deficiency is typically associated with severe congenital muscular dystrophy (CMD), presenting with hypotonia, weakness at birth, joint contractures, and progressive respiratory involvement, while partial merosin deficiency often shows later-onset limb-girdle weakness [1]. LAMA2-RDs also involve the central and peripheral nervous systems, with abnormal white matter on brain MRI and dystrophic muscle on biopsy, along with elevated creatine kinase levels [1]. In addition, epilepsy is a common and sometimes severe feature of LAMA2-RD, and cardiac abnormalities, especially left ventricular systolic dysfunction and arrhythmia, are present in a significant proportion of cases [2,3]. Hypoglycemia is also a risk, especially in non-ambulant patients with a severe phenotype and loss-of-function variants [5].

In conclusion, LAMA2 is essential for normal muscle and nervous system function. The study of LAMA2-related dystrophies using animal models has provided insights into the disease mechanisms, including the role of LAMA2 in muscle and nerve development and function. Understanding LAMA2-related diseases helps in developing potential therapeutic strategies for these often-severe and life-limiting conditions.

References:
1. Sarkozy, Anna, Foley, A Reghan, Zambon, Alberto A, Bönnemann, Carsten G, Muntoni, Francesco. 2020. LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness. In Frontiers in molecular neuroscience, 13, 123. doi:10.3389/fnmol.2020.00123. https://pubmed.ncbi.nlm.nih.gov/32848593/
2. Salvati, Andrea, Bonaventura, Eleonora, Sesso, Gianluca, Pasquariello, Rossella, Sicca, Federico. 2021. Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature. In Seizure, 91, 425-436. doi:10.1016/j.seizure.2021.07.020. https://pubmed.ncbi.nlm.nih.gov/34325301/
3. Bouman, Karlijn, Gubbels, Madelief, van den Heuvel, Frederik M A, Udink Ten Cate, Floris E A, Voermans, Nicol C. 2022. Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy. In Neuromuscular disorders : NMD, 32, 635-642. doi:10.1016/j.nmd.2022.06.004. https://pubmed.ncbi.nlm.nih.gov/35868898/
4. Yurchenco, Peter D, McKee, Karen K. 2019. Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes. In Frontiers in molecular neuroscience, 12, 305. doi:10.3389/fnmol.2019.00305. https://pubmed.ncbi.nlm.nih.gov/31920536/
5. Camelo, Clara Gontijo, Martins Moreno, Cristiane de Araújo, Artilheiro, Mariana Cunha, Reed, Umbertina Conti, Zanoteli, Edmar. 2023. Hypoglycemia in Patients With LAMA2-CMD. In Pediatric neurology, 143, 1-5. doi:10.1016/j.pediatrneurol.2023.01.017. https://pubmed.ncbi.nlm.nih.gov/36934516/
6. Previtali, Stefano Carlo, Zambon, Alberto Andrea. 2020. LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models. In Frontiers in molecular neuroscience, 13, 60. doi:10.3389/fnmol.2020.00060. https://pubmed.ncbi.nlm.nih.gov/32390798/
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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