C57BL/6JCya-Gm2aem1flox/Cya
Common Name:
Gm2a-flox
Product ID:
S-CKO-02666
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gm2a-flox
Strain ID
CKOCMP-14667-Gm2a-B6J-VA
Gene Name
Product ID
S-CKO-02666
Gene Alias
GM2-AP; SAP-3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gm2aem1flox/Cya mice (Catalog S-CKO-02666) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000000608
NCBI RefSeq
NM_010299
Target Region
Exon 3~4
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
GM2A, also known as ganglioside GM2 activator, encodes a transport protein essential for degrading GM2 gangliosides into their GM3 form within the cell's lysosomes. Mutations in GM2A lead to AB-Variant GM2 gangliosidosis, a rare lysosomal storage disorder. GM2A's function is crucial in the context of GM2 ganglioside metabolism, a pathway relevant to neurodegenerative lysosomal storage disorders [1,2,3].
Gm2a-/-mice, a model of ABGM2, exhibit phenotypes representative of the predicted adult-onset form with moderate GM2 accumulation and mild neurological defects. This mild phenotype is due to compensation by the sialidase, neuraminidase 3 (NEU3)-mediated alternative GM2 degradation pathway, which is more prominent in mice than humans. Double knock-out (Gm2a-/-Neu3-/-) mice present a more severe ABGM2-like phenotype, including ataxia, reduced mobility, weight loss, and lethality, along with increased GM2 accumulation in the CNS. This indicates the role of GM2A in preventing excessive GM2 ganglioside accumulation and subsequent neurodegeneration [3].
In conclusion, GM2A is vital for GM2 ganglioside degradation, and its deficiency leads to AB-Variant GM2 gangliosidosis. The use of Gm2a-/-and Gm2a-/-Neu3-/-mouse models has been instrumental in understanding GM2A's role in preventing neurodegeneration associated with GM2 ganglioside accumulation, providing insights into the disease mechanism and potential for pre-clinical drug studies [3].
References:
1. Cordeiro, P, Hechtman, P, Kaplan, F. . The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci. In Genetics in medicine : official journal of the American College of Medical Genetics, 2, 319-27. doi:. https://pubmed.ncbi.nlm.nih.gov/11339652/
2. Vyas, Meera, Deschenes, Natalie M, Osmon, Karlaina J L, Gray, Steven J, Walia, Jagdeep S. 2023. Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis. In International journal of molecular sciences, 24, . doi:10.3390/ijms241914611. https://pubmed.ncbi.nlm.nih.gov/37834060/
3. Deschenes, Natalie M, Cheng, Camilyn, Khanal, Prem, Pshezhetsky, Alexey V, Walia, Jagdeep S. 2023. Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis. In Frontiers in molecular neuroscience, 16, 1242814. doi:10.3389/fnmol.2023.1242814. https://pubmed.ncbi.nlm.nih.gov/38098938/
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