C57BL/6JCya-Lamp2em1/Cya
Common Name:
Lamp2-KO
Product ID:
S-KO-18220
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Lamp2-KO
Strain ID
KOCMP-16784-Lamp2-B6J-VD
Gene Name
Product ID
S-KO-18220
Gene Alias
CD107b; LGP-B; Lamp II; Lamp-2; Lamp-2a; Lamp-2b; Lamp-2c; Mac3
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Lamp2em1/Cya mice (Catalog S-KO-18220) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000074913
NCBI RefSeq
NM_001290485.2
Target Region
Exon 3
Size of Effective Region
~1.1 kb
Detailed Document
Overview of Gene Research
LAMP2, or lysosomal-associated membrane protein 2, is a well-recognized mediator of autolysosome (AL) maturation. It is involved in the autophagy-lysosomal protein degradation pathway, which is crucial for many cellular processes [1,5]. Mutations in the LAMP2 gene can lead to Danon disease, a rare X-linked dominant multisystemic disorder [2,5,6].
Genetic inactivation of Lamp2 in thymic stromal cells specifically impairs the development of CD4 T cells that completed positive selection, due to defects in autophagy in lamp2-deficient cortical thymic epithelial cells (cTECs) and alterations in MHC II processing, reducing CD4 TCR repertoire diversity [1]. In mice, Lamp2 deficiency also leads to age-dependent autofluorescence abnormalities of the fundus, thickening of Bruch's membrane, and the formation of basal laminar deposits similar to those in age-related macular degeneration (AMD), along with compromised lysosomal degradation and increased exocytosis in LAMP2-deficient retinal pigment epithelium (RPE) cells [7]. In addition, LAMP2 deficiency attenuates the neurodegeneration markers induced by HSV-1 infection, reducing viral DNA replication and tau hyperphosphorylation [3]. Engineered Aza-resistant MDS cell lines with LAMP2 deficiency show resistance to Azacytidine (Aza) and hypersensitivity to lysosome and autophagy inhibitors [4].
In conclusion, LAMP2 plays essential roles in autophagy-related cellular processes, T-cell development, and lysosomal function. Studies using Lamp2 knockout mouse models have revealed its significance in diseases such as Danon disease, AMD, neurodegeneration, and in determining drug response in MDS/AML. Understanding LAMP2 function provides insights into disease mechanisms and potential therapeutic targets.
References:
1. Rodrigues, Pedro M, Sousa, Laura G, Perrod, Chiara, Saftig, Paul, Alves, Nuno L. 2022. LAMP2 regulates autophagy in the thymic epithelium and thymic stroma-dependent CD4 T cell development. In Autophagy, 19, 426-439. doi:10.1080/15548627.2022.2074105. https://pubmed.ncbi.nlm.nih.gov/35535798/
2. Shalata, Adel, Bar-Shai, Marina, Hadid, Yarin, Ben-Yosef, Tamar, Yaniv, Liat. 2023. Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature. In Genes, 14, . doi:10.3390/genes14081539. https://pubmed.ncbi.nlm.nih.gov/37628591/
3. Kristen, Henrike, Sastre, Isabel, Aljama, Sara, Bullido, Maria J, Aldudo, Jesus. 2021. LAMP2 deficiency attenuates the neurodegeneration markers induced by HSV-1 infection. In Neurochemistry international, 146, 105032. doi:10.1016/j.neuint.2021.105032. https://pubmed.ncbi.nlm.nih.gov/33781848/
4. Dubois, Alix, Furstoss, Nathan, Calleja, Anne, Auberger, Patrick, Robert, Guillaume. 2019. LAMP2 expression dictates azacytidine response and prognosis in MDS/AML. In Leukemia, 33, 1501-1513. doi:10.1038/s41375-018-0336-1. https://pubmed.ncbi.nlm.nih.gov/30607021/
5. Eskelinen, Eeva-Liisa. 2006. Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. In Molecular aspects of medicine, 27, 495-502. doi:. https://pubmed.ncbi.nlm.nih.gov/16973206/
6. Bottillo, Irene, Giordano, Carla, Cerbelli, Bruna, d'Amati, Giulia, Grammatico, Paola. 2016. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review. In Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology, 25, 423-31. doi:10.1016/j.carpath.2016.07.005. https://pubmed.ncbi.nlm.nih.gov/27497751/
7. Notomi, Shoji, Ishihara, Kenji, Efstathiou, Nikolaos E, Kroemer, Guido, Vavvas, Demetrios G. 2019. Genetic LAMP2 deficiency accelerates the age-associated formation of basal laminar deposits in the retina. In Proceedings of the National Academy of Sciences of the United States of America, 116, 23724-23734. doi:10.1073/pnas.1906643116. https://pubmed.ncbi.nlm.nih.gov/31699817/
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