C57BL/6JCya-Gba1em1flox/Cya
Common Name:
Gba1-flox
Product ID:
S-CKO-02576
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gba1-flox
Strain ID
CKOCMP-14466-Gba1-B6J-VA
Gene Name
Product ID
S-CKO-02576
Gene Alias
GC; GCase; GLUC; Gba; betaGC
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
3
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gba1em1flox/Cya mice (Catalog S-CKO-02576) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000077367
NCBI RefSeq
NM_001077411
Target Region
Exon 9~11
Size of Effective Region
~1.6 kb
Detailed Document
Overview of Gene Research
Gba1, which encodes the lysosomal enzyme glucocerebrosidase (GCase), is involved in sphingolipid metabolism [4]. Deficiency in GCase leads to the accumulation of its glycolipid substrates, ultimately resulting in toxicity and inflammation [2]. Mutations in Gba1 are the most common genetic risk factors for Parkinson's disease (PD) and are also associated with Gaucher's disease (GD) [1,3,5].
Mouse models have been used to study Gba1-associated PD. For example, Gba1 E326K knock-in mice show reduced glucocerebrosidase enzymatic activity, glucosylceramide build-up, increased neuroinflammation, and pathogenic α-synuclein transmission, exacerbating disease pathology in PD models [6]. These models help reveal how Gba1 mutations contribute to PD development through mechanisms like lysosomal dysfunction, α-synuclein aggregation, and neuroinflammation [3,5,6].
In conclusion, Gba1 is essential for normal sphingolipid metabolism, and its deficiency has significant implications for PD. Gba1-associated PD mouse models, such as the Gba1 E326K knock-in mice, have enhanced our understanding of the disease mechanisms, providing a basis for developing targeted therapeutic strategies for PD [6].
References:
1. Parlar, Sitki Cem, Grenn, Francis P, Kim, Jonggeol Jeffrey, Baluwendraat, Cornelis, Gan-Or, Ziv. 2023. Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser. In Movement disorders : official journal of the Movement Disorder Society, 38, 489-495. doi:10.1002/mds.29314. https://pubmed.ncbi.nlm.nih.gov/36598340/
2. Abeliovich, Asa, Hefti, Franz, Sevigny, Jeffrey. . Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations. In Journal of Parkinson's disease, 11, S183-S188. doi:10.3233/JPD-212739. https://pubmed.ncbi.nlm.nih.gov/34151863/
3. Ryan, Emory, Seehra, Gurpreet, Sharma, Pankaj, Sidransky, Ellen. . GBA1-associated parkinsonism: new insights and therapeutic opportunities. In Current opinion in neurology, 32, 589-596. doi:10.1097/WCO.0000000000000715. https://pubmed.ncbi.nlm.nih.gov/31188151/
4. Menozzi, Elisa, Toffoli, Marco, Schapira, Anthony H V. 2023. Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues. In Pharmacology & therapeutics, 246, 108419. doi:10.1016/j.pharmthera.2023.108419. https://pubmed.ncbi.nlm.nih.gov/37080432/
5. Johnson, Parker H, Weinreb, Neal J, Cloyd, James C, Tuite, Paul J, Kartha, Reena V. 2019. GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies. In Molecular genetics and metabolism, 129, 35-46. doi:10.1016/j.ymgme.2019.10.006. https://pubmed.ncbi.nlm.nih.gov/31761523/
6. Kweon, Sin Ho, Ryu, Hye Guk, Kwon, Seung-Hwan, Kim, Sangjune, Ko, Han Seok. . Gba1 E326K renders motor and non-motor symptoms with pathological α-synuclein, tau and glial activation. In Brain : a journal of neurology, 147, 4072-4083. doi:10.1093/brain/awae222. https://pubmed.ncbi.nlm.nih.gov/38976650/
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