C57BL/6JCya-Gm2aem1/Cya
Common Name:
Gm2a-KO
Product ID:
S-KO-19496
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gm2a-KO
Strain ID
KOCMP-14667-Gm2a-B6J-VB
Gene Name
Product ID
S-KO-19496
Gene Alias
GM2-AP; SAP-3
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gm2aem1/Cya mice (Catalog S-KO-19496) 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, encoding the GM2 activator protein, is crucial for the hydrolysis of GM2 gangliosides into GM3 form within the cell's lysosomes. Mutations in GM2A lead to AB-variant GM2 gangliosidosis, a rare lysosomal storage disorder. GM2 gangliosidoses are a group of recessive disorders characterized by GM2 ganglioside accumulation in neuronal cells [1,2,3].
Gm2a-/-mice, a model of ABGM2, have a mild phenotype with moderate GM2 accumulation and mild neurological defects, which is attributed to compensation by the sialidase, neuraminidase 3 (NEU3)-mediated alternative GM2 degradation pathway. 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 shows that NEU3 contributes to GM2 degradation and double knockout mice can be used as a relevant model for pre-clinical drug studies in severe ABGM2 [3].
In conclusion, GM2A is essential for GM2 ganglioside degradation. The study of Gm2a-/-and Gm2a-/-Neu3-/-mouse models has provided insights into the role of GM2A in AB-variant GM2 gangliosidosis, helping to understand the disease mechanism and potentially guiding the development of treatment strategies for this rare disorder.
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