C57BL/6JCya-Galcem1/Cya
Common Name:
Galc-KO
Product ID:
S-KO-18209
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Galc-KO
Strain ID
KOCMP-14420-Galc-B6J-VA
Gene Name
Product ID
S-KO-18209
Gene Alias
2310068B06Rik; A930008M05Rik; Gacy; twi; twitcher
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
12
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Galcem1/Cya mice (Catalog S-KO-18209) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000021390
NCBI RefSeq
NM_008079
Target Region
Exon 2~7
Size of Effective Region
~15.2 kb
Detailed Document
Overview of Gene Research
GALC, encoding galactosylceramidase, is a gene of great significance. Galactosylceramidase is a lysosomal enzyme pivotal in the glycosphingolipid metabolism pathway [1,3]. Mutations in GALC can lead to Krabbe disease, also known as globoid cell leukodystrophy, a lysosomal storage disease [2,3,4,5,6,7,8].
In research, GALC knockout using CRISPR-Cas9 in neuronal cell models did not lead to alpha-synuclein accumulation, suggesting that increased rather than reduced galactosylceramidase levels may be associated with Parkinson's disease. The common variant p.I562T may affect the maturation and activity of galactosylceramidase [1]. In a mouse model of Krabbe disease, brain-targeted AAV1-GALC gene therapy reduced psychosine levels and extended lifespan [6]. Also, rAAV2-GALC rescued GALC enzymatic activity in neural stem cells derived from Krabbe patient-induced pluripotent stem cells [7].
In conclusion, GALC is crucial for normal glycosphingolipid metabolism. Its deficiency is linked to Krabbe disease. Studies using gene-modified models, like knockout in neuronal cells and gene-therapy-based approaches in mouse models, have provided insights into GALC's role in Parkinson's disease and Krabbe disease, enhancing our understanding of related disease mechanisms and potential treatment strategies.
References:
1. Senkevich, Konstantin, Zorca, Cornelia E, Dworkind, Aliza, Alcalay, Roy N, Gan-Or, Ziv. . GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease. In Brain : a journal of neurology, 146, 1859-1872. doi:10.1093/brain/awac413. https://pubmed.ncbi.nlm.nih.gov/36370000/
2. Su, Yilin, Wei, Lijian, Wang, Lan, Xu, Pingyi, Mo, Mingshu. 2024. Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature. In Neurocase, 30, 63-67. doi:10.1080/13554794.2024.2354541. https://pubmed.ncbi.nlm.nih.gov/38762762/
3. Maghazachi, Azzam A. 2023. Globoid Cell Leukodystrophy (Krabbe Disease): An Update. In ImmunoTargets and therapy, 12, 105-111. doi:10.2147/ITT.S424622. https://pubmed.ncbi.nlm.nih.gov/37928748/
4. Iacono, Salvatore, Del Giudice, Elda, Leon, Alberta, La Bella, Vincenzo, Spataro, Rossella. 2022. A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review. In Neurogenetics, 23, 157-165. doi:10.1007/s10048-021-00682-1. https://pubmed.ncbi.nlm.nih.gov/35013804/
5. Hwang, Narae, Kim, Sang-Mi, Kim, Young-Gon, Lee, Jiwon, Park, Hyung-Doo. 2024. Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years. In Clinical genetics, 106, 150-160. doi:10.1111/cge.14523. https://pubmed.ncbi.nlm.nih.gov/38515343/
6. Herdt, Aimee R, Peng, Hui, Dickson, Dennis W, Eckman, Elizabeth A, Lee, Chris W. 2023. Brain Targeted AAV1-GALC Gene Therapy Reduces Psychosine and Extends Lifespan in a Mouse Model of Krabbe Disease. In Genes, 14, . doi:10.3390/genes14081517. https://pubmed.ncbi.nlm.nih.gov/37628569/
7. Tian, Guoshuai, Cao, Chunyu, Li, Shuyue, Zhang, Ye, Lv, Yafeng. 2023. rAAV2-Mediated Restoration of GALC in Neural Stem Cells from Krabbe Patient-Derived iPSCs. In Pharmaceuticals (Basel, Switzerland), 16, . doi:10.3390/ph16040624. https://pubmed.ncbi.nlm.nih.gov/37111381/
8. Zhuang, Shunzhi, Kong, Lingen, Li, Caiming, Chen, Likun, Zhang, Tingting. 2019. GALC mutations in Chinese patients with late-onset Krabbe disease: a case report. In BMC neurology, 19, 122. doi:10.1186/s12883-019-1345-z. https://pubmed.ncbi.nlm.nih.gov/31185936/
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