C57BL/6NCya-Elovl4em1flox/Cya
Common Name:
Elovl4-flox
Product ID:
S-CKO-17068
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Elovl4-flox
Strain ID
CKOCMP-83603-Elovl4-B6N-VA
Gene Name
Product ID
S-CKO-17068
Gene Alias
--
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Elovl4em1flox/Cya mice (Catalog S-CKO-17068) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034796
NCBI RefSeq
NM_148941
Target Region
Exon 4
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Elovl4, short for Elongation of Very Long chain fatty acids-4, is an elongase in the ELOVL family. It is responsible for the biosynthesis of very long chain (VLC, ≥C28) saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids in tissues like the brain, retina, skin, Meibomian glands, and testes. These VLC-SFA and VLC-PUFA play crucial roles in maintaining cell structure and function, such as modulating membrane fluidity and cell signaling, and are essential for neural function, skin permeability barrier maintenance, and sperm function [1,2,4]. Genetically engineered mouse models have been used to explore the mechanisms by which Elovl4 impacts neural function and health [1].
Different mutations in Elovl4 cause various human phenotypes. Heterozygous inheritance of certain mutations leads to autosomal dominant Stargardt-like macular dystrophy (STGD3), while homozygous inheritance of others causes severe seizures with ichthyosis, hypertonia, and even death. Some heterozygous mutations result in spinocerebellar ataxia-34 (SCA34) with or without erythrokeratodermia (EKV) [1]. In cell culture studies, mutant Elovl4 variants like L168F and W246G showed differential capabilities in VLC-PUFA and VLC-SFA biosynthesis, which may contribute to the pathogenic mechanisms of SCA34 and related disorders [3].
In conclusion, Elovl4 is essential for the biosynthesis of VLC-SFA and VLC-PUFA, which are crucial for multiple biological functions. The study of Elovl4 using genetically engineered mouse models has provided insights into its role in neural function and the pathogenesis of diseases such as STGD3, SCA34, and other neuro-ichthyosis-related disorders, enhancing our understanding of basic neural signaling mechanisms and potentially paving the way for novel therapies [1,2,3,4,5].
References:
1. Hopiavuori, Blake R, Anderson, Robert E, Agbaga, Martin-Paul. 2018. ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function. In Progress in retinal and eye research, 69, 137-158. doi:10.1016/j.preteyeres.2018.10.004. https://pubmed.ncbi.nlm.nih.gov/30982505/
2. Deák, Ferenc, Anderson, Robert E, Fessler, Jennifer L, Sherry, David M. 2019. Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations. In Frontiers in cellular neuroscience, 13, 428. doi:10.3389/fncel.2019.00428. https://pubmed.ncbi.nlm.nih.gov/31616255/
3. Gyening, Yeboah Kofi, Chauhan, Neeraj Kumar, Tytanic, Madison, Brush, Richard S, Agbaga, Martin-Paul. 2022. ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis. In Journal of lipid research, 64, 100317. doi:10.1016/j.jlr.2022.100317. https://pubmed.ncbi.nlm.nih.gov/36464075/
4. Yeboah, Gyening Kofi, Lobanova, Ekaterina S, Brush, Richard S, Agbaga, Martin-Paul. 2021. Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4. In Journal of lipid research, 62, 100030. doi:10.1016/j.jlr.2021.100030. https://pubmed.ncbi.nlm.nih.gov/33556440/
5. Alabdulrazzaq, Fatima, Alanzi, Talal, Al-Balool, Haya H, Bertoli-Avella, Aida M, Marafi, Dana. 2023. Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis. In Molecular genetics & genomic medicine, 11, e2256. doi:10.1002/mgg3.2256. https://pubmed.ncbi.nlm.nih.gov/37592902/
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