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C57BL/6JCya-Elmod1em1/Cya
Common Name:
Elmod1-KO
Product ID:
S-KO-19472
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Elmod1-KO
Strain ID
KOCMP-270162-Elmod1-B6J-VB
Gene Name
Elmod1
Product ID
S-KO-19472
Gene Alias
4831417L10
Background
C57BL/6JCya
NCBI ID
270162
Modification
Conventional knockout
Chromosome
9
Phenotype
MGI:3583900
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-Elmod1em1/Cya mice (Catalog S-KO-19472) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000048409
NCBI RefSeq
NM_177769
Target Region
Exon 3~4
Size of Effective Region
~1.8 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Elmod1, or ELMO domain-containing protein 1, functions as a guanine nucleoside triphosphatase activating protein (GAP) for ARF6, a member of the ADP-ribosylation factor (ARF) small GTPase family. ARF family GTPases regulate membrane trafficking and cytoskeletal assembly, and thus Elmod1 is crucial in these cellular processes. Genetic models, such as knockout mouse models, have been valuable in studying its functions [1,4].

In rda/rda mice lacking functional Elmod1, utricle hair cell cuticular plates initially form normally but degenerate after postnatal day 5, with vesicles invading the compromised plate. Hair bundles also show abnormal development, including apical membrane detachment, stereocilia elongation and fusion. The ARF6 GTP/GDP ratio is elevated in rda/rda utricles, indicating that Elmod1-mediated conversion of ARF6 to its GDP-bound form is necessary for hair bundle stabilization [1]. Deletion of Elmod1 in cells leads to decreased ability to form primary cilia, loss of some ciliary proteins, and their accumulation at the Golgi, suggesting a role in ciliogenesis and ciliary protein traffic [2]. A novel mutation in the human Elmod1 gene has been associated with mental retardation and autism spectrum disorder, demonstrating differences in phenotypes between humans and mice with Elmod1 mutations [3].

In conclusion, Elmod1 is essential for the normal development and function of hair cells by stabilizing apical structures, and also plays a role in ciliogenesis and ciliary protein traffic. Mouse models with Elmod1 mutations have provided insights into its functions in these processes and its potential link to human diseases such as mental retardation and autism spectrum disorder.

References:
1. Krey, Jocelyn F, Dumont, Rachel A, Wilmarth, Philip A, Johnson, Kenneth R, Barr-Gillespie, Peter G. 2017. ELMOD1 Stimulates ARF6-GTP Hydrolysis to Stabilize Apical Structures in Developing Vestibular Hair Cells. In The Journal of neuroscience : the official journal of the Society for Neuroscience, 38, 843-857. doi:10.1523/JNEUROSCI.2658-17.2017. https://pubmed.ncbi.nlm.nih.gov/29222402/
2. Turn, Rachel E, Hu, Yihan, Dewees, Skylar I, Caspary, Tamara, Kahn, Richard A. 2021. The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and cilia to regulate ciliogenesis and ciliary protein traffic. In Molecular biology of the cell, 33, ar13. doi:10.1091/mbc.E21-09-0443. https://pubmed.ncbi.nlm.nih.gov/34818063/
3. Miryounesi, Mohammad, Bahari, Sorya, Salehpour, Shadab, Alipour, Nasrin, Ghafouri-Fard, Soudeh. 2019. ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder. In Journal of molecular neuroscience : MN, 69, 312-315. doi:10.1007/s12031-019-01359-z. https://pubmed.ncbi.nlm.nih.gov/31327155/
4. Johnson, Kenneth R, Longo-Guess, Chantal M, Gagnon, Leona H. 2012. Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia. In PloS one, 7, e36074. doi:10.1371/journal.pone.0036074. https://pubmed.ncbi.nlm.nih.gov/22558334/
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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