C57BL/6JCya-Lama1em1/Cya
Common Name:
Lama1-KO
Product ID:
S-KO-19188
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Lama1-KO
Strain ID
KOCMP-16772-Lama1-B6J-VA
Gene Name
Product ID
S-KO-19188
Gene Alias
Lama
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
17
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Lama1em1/Cya mice (Catalog S-KO-19188) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000035471
NCBI RefSeq
NM_008480
Target Region
Exon 2~3
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
LAMA1, also known as laminin subunit α1, is a member of the laminin family and a key basement membrane molecule [5]. Laminins are crucial for various biological activities, including cell adhesion, migration, and differentiation, and are involved in many biological processes and disease-related pathways [5]. Genetic models, such as mouse models, are valuable for studying LAMA1.
In Lama2-related congenital muscular dystrophy (LAMA2-CMD), Lama1 upregulation has shown therapeutic potential. In the dyH/dyH mouse model (a Lama2 exon-3-deletion mouse model), CRISPRa-mediated Lama1 upregulation nearly doubled the median survival, improved weight and grip, and had positive effects on MRI, serum biochemical indices, and muscle pathology [2]. In Merosin-deficient congenital muscular dystrophy (MDC1A) fibroblasts with LAMA2 mutations, CRISPRa-mediated LAMA1 upregulation compensated for LAMA2 deficiency, rescued cellular abnormalities, and decreased the expression of genes involved in the wound-healing mechanism [1].
In Lama1nmf223 mutant mice, abnormal axonal transport and optic nerve structure were observed in response to experimental glaucoma, suggesting a role of LAMA1 in the eye [3]. Also, Lama1 mutations in mice led to abnormal retinal vascular development, persistence of fetal vasculature, and epiretinal membrane formation, indicating its importance in retinal development [6,8]. In humans, biallelic mutations in LAMA1 cause Poretti-Boltshauser Syndrome (PTBHS), a non-progressive cerebellar dysplasia disorder with ophthalmic manifestations [4,7].
In conclusion, LAMA1 is essential for normal development, especially in muscle and eye tissues. Mouse models, including gene-modified ones, have revealed its role in diseases like LAMA2-CMD, MDC1A, and certain eye disorders. Understanding LAMA1 through these models provides insights into the underlying mechanisms of these diseases and potential therapeutic strategies.
References:
1. Arockiaraj, Annie I, Johnson, Marie A, Munir, Anushe, McAllister-Lucas, Linda M, Kemaladewi, Dwi U. 2023. CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.03.06.531347. https://pubmed.ncbi.nlm.nih.gov/36945402/
2. Liu, Yidan, Tan, Dandan, Ma, Kaiyue, Zhang, Hong, Xiong, Hui. 2024. Lama1 upregulation prolongs the lifespan of the dyH/dyH mouse model of LAMA2-related congenital muscular dystrophy. In Journal of genetics and genomics = Yi chuan xue bao, 51, 1066-1078. doi:10.1016/j.jgg.2024.05.005. https://pubmed.ncbi.nlm.nih.gov/38777118/
3. Madhoun, Salaheddine, Martins, Manuela Tosi Comelis, Korneva, Arina, Edwards, Malia, Quigley, Harry. 2022. Effects of experimental glaucoma in Lama1nmf223 mutant mice. In Experimental eye research, 226, 109341. doi:10.1016/j.exer.2022.109341. https://pubmed.ncbi.nlm.nih.gov/36476399/
4. Schiff, Elena R, Aychoua, Nancy, Nutan, Savita, Webster, Andrew R, Arno, Gavin. 2022. Variability of retinopathy consequent upon novel mutations in LAMA1. In Ophthalmic genetics, 43, 671-678. doi:10.1080/13816810.2022.2076283. https://pubmed.ncbi.nlm.nih.gov/35616092/
5. Zhang, Shaoyuan, Fang, Yong, Su, Feng, Tan, Lijie, Yin, Jun. 2023. Association of LAMA1 Single-Nucleotide Polymorphisms with Risk of Esophageal Squamous Cell Carcinoma among the Eastern Chinese Population. In Journal of oncology, 2023, 6922909. doi:10.1155/2023/6922909. https://pubmed.ncbi.nlm.nih.gov/36824663/
6. Edwards, Malia M, McLeod, D Scott, Grebe, Rhonda, Lefebvre, Olivier, Lutty, Gerard A. 2011. Lama1 mutations lead to vitreoretinal blood vessel formation, persistence of fetal vasculature, and epiretinal membrane formation in mice. In BMC developmental biology, 11, 60. doi:10.1186/1471-213X-11-60. https://pubmed.ncbi.nlm.nih.gov/21999428/
7. Powell, Laura, Olinger, Eric, Wedderburn, Sarah, Boltshauser, Eugen, Sayer, John A. 2021. Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome. In Brain communications, 3, fcab163. doi:10.1093/braincomms/fcab163. https://pubmed.ncbi.nlm.nih.gov/34423300/
8. Edwards, Malia M, Mammadova-Bach, Elmina, Alpy, Fabien, Lefebvre, Olivier, Nishina, Patsy M. 2010. Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation. In The Journal of biological chemistry, 285, 7697-711. doi:10.1074/jbc.M109.069575. https://pubmed.ncbi.nlm.nih.gov/20048158/
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