C57BL/6JCya-Elp1em1flox/Cya
Common Name:
Elp1-flox
Product ID:
S-CKO-18921
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Elp1-flox
Strain ID
CKOCMP-230233-Elp1-B6J-VB
Gene Name
Product ID
S-CKO-18921
Gene Alias
3110040G09Rik; 6030413P05; IKAP; Ikbkap
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Elp1em1flox/Cya mice (Catalog S-CKO-18921) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000030140
NCBI RefSeq
NM_026079
Target Region
Exon 4
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
Elp1, also known as IKAP, is a core subunit of the Elongator complex. It has been implicated in translational regulation, and is crucial for maintaining genome integrity, as it is involved in pathways like RAD51-mediated homologous recombination repair for DNA double-strand break repair [1].
Elp1 deficiency in mouse models has revealed its significance in multiple biological processes. In mouse embryonic fibroblasts, Elp1 depletion enhanced genomic instability, impaired cell proliferation, and defective HR repair, with reduced RAD51 protein levels due to translational regulation [1]. In mouse models for familial dysautonomia (FD), a disease caused by ELP1 mutations, Elp1 was found essential for the development of neural crest-derived dorsal root ganglia sensory neurons [2]. Also, Elp1 is required for the development of visceral sensory peripheral and central circuitry, as its reduction impairs the entire baroreception and chemoreception circuitry [2]. In cerebellar granule cell progenitors, conditional knockout of Elp1 led to ataxia, smaller cerebella, and fewer granule cells, suggesting its role in the developing cerebellum and in the progressive ataxia phenotypes of FD patients [3].
In conclusion, Elp1 plays essential roles in translational regulation, genome stability, and the development of neural circuits. Mouse models, especially KO and CKO models, have been instrumental in revealing its functions in the context of diseases like familial dysautonomia, providing insights into the molecular mechanisms underlying these disorders and potential therapeutic targets.
References:
1. Chen, Wei-Ting, Tseng, Huan-Yi, Jiang, Chung-Lin, Wang, I-Ching, Lin, Fu-Jung. 2021. Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation. In Journal of biomedical science, 28, 81. doi:10.1186/s12929-021-00773-z. https://pubmed.ncbi.nlm.nih.gov/34819065/
2. Tolman, Zariah, Chaverra, Marta, George, Lynn, Lefcort, Frances. 2022. Elp1 is required for development of visceral sensory peripheral and central circuitry. In Disease models & mechanisms, 15, . doi:10.1242/dmm.049274. https://pubmed.ncbi.nlm.nih.gov/35481599/
3. Arnskötter, Frederik, da Silva, Patricia Benites Goncalves, Schouw, Mackenna E, Patrizi, Annarita, Kutscher, Lena M. 2024. Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia. In Neurobiology of disease, 199, 106600. doi:10.1016/j.nbd.2024.106600. https://pubmed.ncbi.nlm.nih.gov/38996985/
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