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C57BL/6JCya-Elp1em1/Cya
Common Name:
Elp1-KO
Product ID:
S-KO-18497
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Elp1-KO
Strain ID
KOCMP-230233-Elp1-B6J-VA
Gene Name
Elp1
Product ID
S-KO-18497
Gene Alias
3110040G09Rik; 6030413P05; IKAP; Ikbkap
Background
C57BL/6JCya
NCBI ID
230233
Modification
Conventional knockout
Chromosome
4
Phenotype
MGI:1914544
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Elp1em1/Cya mice (Catalog S-KO-18497) 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
Click here to download >>
Overview of Gene Research
Elp1, also known as IKBKAP, is the largest subunit of the evolutionarily conserved Elongator complex. This complex is involved in translational elongation through tRNA modifications at the wobble (U34) position, which is crucial for maintaining normal cellular functions [3]. Genetic models, especially mouse models, have been instrumental in studying Elp1's function.

Mutations in Elp1 cause familial dysautonomia (FD), a sensory and autonomic neuropathy. Mouse models with Elp1 knockout (KO) or conditional knockout (CKO) have shown that Elp1 is essential for the normal development of neural crest-derived dorsal root ganglia sensory neurons, as well as for the development of visceral sensory peripheral and central circuitry. In Elp1-deficient mouse embryonic fibroblasts (MEFs), genomic instability is enhanced, and DNA double-strand break repair is impaired due to reduced RAD51 protein levels, indicating its role in maintaining genome integrity [1,2]. In a mouse model of FD, correction of mutant ELP1 splicing by kinetin rescued neurological phenotypes, highlighting the importance of normal ELP1 splicing [4]. In trigeminal ganglion development, Elp1 is required for proper axon outgrowth, target innervation, and survival of nociceptors, as shown by Elp1 knockdown in chick trigeminal placode cells and Elp1 CKO in mice [5,6,8]. Also, loss of Elp1 in cerebellar granule cell progenitors in mice led to ataxia, demonstrating its importance in cerebellar development [7]. In addition, Elp1 is required for normal enteric nervous system development and maintenance and for gut epithelium homeostasis in mice [9].

In conclusion, Elp1 is vital for multiple biological processes, including neuronal development, genome stability, and gut homeostasis. Mouse models, especially KO and CKO models, have been crucial in revealing its roles in diseases like familial dysautonomia, providing insights into the disease mechanisms and potential therapeutic strategies.

References:
1. 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/
2. 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/
3. Waszak, Sebastian M, Robinson, Giles W, Gudenas, Brian L, Northcott, Paul A, Pfister, Stefan M. 2020. Germline Elongator mutations in Sonic Hedgehog medulloblastoma. In Nature, 580, 396-401. doi:10.1038/s41586-020-2164-5. https://pubmed.ncbi.nlm.nih.gov/32296180/
4. Morini, Elisabetta, Gao, Dadi, Montgomery, Connor M, Dragatsis, Ioannis, Slaugenhaupt, Susan A. 2019. ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. In American journal of human genetics, 104, 638-650. doi:10.1016/j.ajhg.2019.02.009. https://pubmed.ncbi.nlm.nih.gov/30905397/
5. Leonard, Carrie E, Quiros, Jolie, Lefcort, Frances, Taneyhill, Lisa A. 2022. Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia. In eLife, 11, . doi:10.7554/eLife.71455. https://pubmed.ncbi.nlm.nih.gov/35713404/
6. Hines, Margaret A, Taneyhill, Lisa A. 2024. Elp1 function in placode-derived neurons is critical for proper trigeminal ganglion development. In Developmental dynamics : an official publication of the American Association of Anatomists, , . doi:10.1002/dvdy.749. https://pubmed.ncbi.nlm.nih.gov/39381860/
7. 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/
8. Hines, Margaret A, Taneyhill, Lisa A. 2024. Elp1 function in placode-derived neurons is critical for proper trigeminal ganglion development. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.07.12.603323. https://pubmed.ncbi.nlm.nih.gov/39071383/
9. Chaverra, Marta, Cheney, Alexandra M, Scheel, Alpha, Copié, Valérie, Lefcort, Frances. 2024. ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis. In The Journal of neuroscience : the official journal of the Society for Neuroscience, 44, . doi:10.1523/JNEUROSCI.2253-23.2024. https://pubmed.ncbi.nlm.nih.gov/39138000/
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
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