C57BL/6JCya-Strcem1flox/Cya
Common Name:
Strc-flox
Product ID:
S-CKO-02284
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Strc-flox
Strain ID
CKOCMP-140476-Strc-B6J-VA
Gene Name
Product ID
S-CKO-02284
Gene Alias
DFNB16
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Strcem1flox/Cya mice (Catalog S-CKO-02284) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000038389
NCBI RefSeq
NM_080459
Target Region
Exon 2~4
Size of Effective Region
~3.8 kb
Detailed Document
Overview of Gene Research
Strc, encoding stereocilin, is a gene located on chromosome 15q15.3. The loss of the stereocilin protein, encoded by this gene, induces the loss of connection between outer hair cells and tectorial membrane, only affecting outer hair cell (OHC) function and involving deficits of active cochlear frequency selectivity and amplifier functions despite normal inner hair cell preservation [4].
Mutations in the STRC gene are a major cause of mild-moderate autosomal recessive non-syndromic hearing loss (ARNSHL), with a pooled prevalence of DFNB16 in GJB2-negative patients with hearing loss being 4.08% (95% CI: 0.0289-0.0573), and the proportion of STRC variants in the mild-moderate hearing loss group being 14.36% [1]. In Japanese hearing loss patients, the prevalence of STRC-associated hearing loss was 2.77% [2]. In the Czech population, STRC gene mutations were found in 5.5% of all patients and 13.6% of patients with autosomal recessive non-syndromic hearing loss (NSHL-AR) [5]. Overall, STRC deletions are considered the second most common cause of mild-to-moderate hearing loss after the GJB2 gene [6]. In pediatric patients with biallelic pathogenic STRC mutations, all had bilateral, symmetric sensorineural hearing loss (SNHL), with baseline HL being mild in 39% of ears, moderate in 52%, and moderate-severe in 3%, and 58% had some degree of progressive HL [3].
In conclusion, the Strc gene is crucial for the normal function of the cochlear amplifier, as its loss of function leads to specific auditory deficits. Studies on STRC-related hearing loss across different populations have shown its significant contribution to mild-moderate hearing impairment, highlighting the importance of understanding Strc in the context of genetic hearing loss.
References:
1. Han, Shuang, Zhang, Dejun, Guo, Yingyuan, Fu, Zeming, Guan, Guofang. 2021. Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis. In Frontiers in genetics, 12, 707845. doi:10.3389/fgene.2021.707845. https://pubmed.ncbi.nlm.nih.gov/34621290/
2. Nishio, Shin-Ya, Usami, Shin-Ichi. 2022. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. In Scientific reports, 12, 634. doi:10.1038/s41598-021-04688-5. https://pubmed.ncbi.nlm.nih.gov/35022556/
3. Simi, Andrea, Perry, Julia, Schindler, Emma, Kawai, Kosuke, Kenna, Margaret. 2021. Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss. In The Laryngoscope, 131, E2897-E2903. doi:10.1002/lary.29680. https://pubmed.ncbi.nlm.nih.gov/34111299/
4. Benoit, Charlotte, Carlson, Ryan J, King, Mary-Claire, Horn, David L, Rubinstein, Jay T. 2023. Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects. In Hearing research, 439, 108898. doi:10.1016/j.heares.2023.108898. https://pubmed.ncbi.nlm.nih.gov/37890241/
5. Marková, Simona Poisson, Brožková, Dana Šafka, Laššuthová, Petra, Staněk, David, Seeman, Pavel. . STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. In Genetic testing and molecular biomarkers, 22, 127-134. doi:10.1089/gtmb.2017.0155. https://pubmed.ncbi.nlm.nih.gov/29425068/
6. Yokota, Yoh, Moteki, Hideaki, Nishio, Shin-Ya, Fukushima, Yoshimitsu, Usami, Shin-Ichi. 2019. Frequency and clinical features of hearing loss caused by STRC deletions. In Scientific reports, 9, 4408. doi:10.1038/s41598-019-40586-7. https://pubmed.ncbi.nlm.nih.gov/30867468/
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