C57BL/6NCya-Lipaem1/Cya
Common Name:
Lipa-KO
Product ID:
S-KO-19111
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Lipa-KO
Strain ID
KOCMP-16889-Lipa-B6N-VA
Gene Name
Product ID
S-KO-19111
Gene Alias
Lal; Lip-1; Lip1
Background
C57BL/6NCya
NCBI ID
Modification
Conventional knockout
Chromosome
19
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Lipaem1/Cya mice (Catalog S-KO-19111) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000049572
NCBI RefSeq
NM_021460
Target Region
Exon 3
Size of Effective Region
~0.1 kb
Detailed Document
Overview of Gene Research
LIPA, encoding lysosomal acid lipase, is crucial for the hydrolysis of triglycerides and cholesteryl esters in the lysosome [2]. This enzyme is involved in lipid metabolism pathways, and its proper function is essential for maintaining normal lipoprotein composition and cardiovascular health [1]. Gene knockout models could potentially be used to further explore its function.
Mutations in the LIPA gene have significant impacts. In cholesteryl ester storage disease (CESD) patients, LIPA gene mutations lead to abnormal lipoprotein composition, with enrichment in ACAT-derived cholesteryl esters, increasing cardiovascular risk [1]. In Egyptian patients with Wolman disease, a severe subtype of LAL-D caused by LIPA gene deficiency, several disease-causing variants were identified, including a novel one [2]. In a mouse model of non-alcoholic fatty liver disease, exercise upregulated LIPA expression, and enhancing the PLIN2-LIPA axis-mediated lipophagy may be a key mechanism in exercise-induced alleviation of NAFLD [3].
In conclusion, LIPA is vital for lipid metabolism, and its malfunction due to gene mutations is associated with diseases like CESD and Wolman disease. Research on LIPA, especially through gene knockout models, helps understand its role in lipid-related diseases, providing potential directions for diagnosis, treatment, and genetic counseling.
References:
1. Arnaboldi, Lorenzo, Ossoli, Alice, Giorgio, Eleonora, Calabresi, Laura, Gomaraschi, Monica. 2020. LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters. In Atherosclerosis, 297, 8-15. doi:10.1016/j.atherosclerosis.2020.01.026. https://pubmed.ncbi.nlm.nih.gov/32058863/
2. Elaraby, Nesma M, Galal, Eman Reda, Abdel-Hamid, Mohamed, Mounir, Samir M, Ashaat, Engy A. 2023. First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease. In Journal of molecular neuroscience : MN, 73, 598-607. doi:10.1007/s12031-023-02139-6. https://pubmed.ncbi.nlm.nih.gov/37470904/
3. Fang, Chunlu, Liu, Shujing, Yang, Wenqi, Peng, Shuang, Li, Liangming. 2024. Exercise ameliorates lipid droplet metabolism disorder by the PLIN2-LIPA axis-mediated lipophagy in mouse model of non-alcoholic fatty liver disease. In Biochimica et biophysica acta. Molecular basis of disease, 1870, 167045. doi:10.1016/j.bbadis.2024.167045. https://pubmed.ncbi.nlm.nih.gov/38306800/
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