C57BL/6JCya-Loxhd1em1/Cya
Common Name:
Loxhd1-KO
Product ID:
S-KO-19836
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Loxhd1-KO
Strain ID
KOCMP-240411-Loxhd1-B6J-VC
Gene Name
Product ID
S-KO-19836
Gene Alias
1700096C21Rik; 4932417K07; sba
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
18
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Loxhd1em1/Cya mice (Catalog S-KO-19836) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000096547
NCBI RefSeq
NM_172834
Target Region
Exon 4
Size of Effective Region
~0.8 kb
Detailed Document
Overview of Gene Research
Loxhd1, encoding lipoxygenase homology domain 1, is crucial for the mechanotransduction process in cochlear hair cells [1]. It consists of 15 polycystin lipoxygenase α -toxin (PLAT) repeats which can bind lipids and proteins, and is distributed along the length of stereocilia. Its function is essential for normal hearing as it is involved in the sound detection process in the inner ear [1].
Two Loxhd1 mouse models with mutations in the 10th PLAT repeat exhibited mechanotransduction defects. In these mutants, while mechanotransduction currents in inner hair cells (IHCs) were similar to wild-type levels in the first postnatal week, they were severely affected by postnatal day 11 [1]. Additionally, studies using mouse models showed that LOXHD1 is essential for keeping TMC1-pore forming subunits at the tip link in the hair bundle, but is dispensable for TMC2 [2,3]. LOXHD1 selectively interacts with TMC1, CIB2, LHFPL5, and tip-link protein PCDH15 [2,3].
In conclusion, Loxhd1 is indispensable for the mechanotransduction in cochlear hair cells and maintaining TMC1-driven mature auditory channels at the site of force transmission. Mouse models with Loxhd1 mutations have revealed its critical role in normal hearing function, and its malfunction is associated with non-syndromic sensorineural hearing loss (NSHL) such as DFNB77 [1,2,3,4].
References：
1. Trouillet, Alix, Miller, Katharine K, George, Shefin Sam, Ricci, Anthony, Grillet, Nicolas. 2021. Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells. In The Journal of neuroscience : the official journal of the Society for Neuroscience, 41, 3331-3343. doi:10.1523/JNEUROSCI.0975-20.2021. https://pubmed.ncbi.nlm.nih.gov/33707295/
2. Wang, Pei, Miller, Katharine K, He, Enqi, Cunningham, Christopher L, Grillet, Nicolas. 2024. LOXHD1 is indispensable for maintaining TMC1 auditory mechanosensitive channels at the site of force transmission. In Nature communications, 15, 7865. doi:10.1038/s41467-024-51850-4. https://pubmed.ncbi.nlm.nih.gov/39256406/
3. Wang, Pei, Miller, Katharine K, He, Enqi, Cunningham, Christopher L, Grillet, Nicolas. 2024. LOXHD1 is indispensable for coupling auditory mechanosensitive channels to the site of force transmission. In Research square, , . doi:10.21203/rs.3.rs-3752492/v1. https://pubmed.ncbi.nlm.nih.gov/38260480/
4. Del Castillo, Ignacio, Morín, Matías, Domínguez-Ruiz, María, Moreno-Pelayo, Miguel A. 2022. Genetic etiology of non-syndromic hearing loss in Europe. In Human genetics, 141, 683-696. doi:10.1007/s00439-021-02425-6. https://pubmed.ncbi.nlm.nih.gov/35044523/
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