C57BL/6JCya-Slc26a4em1/Cya
Common Name:
Slc26a4-KO
Product ID:
S-KO-17842
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Slc26a4-KO
Strain ID
KOCMP-23985-Slc26a4-B6J-VB
Gene Name
Product ID
S-KO-17842
Gene Alias
Pds; pendrin
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
12
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Slc26a4em1/Cya mice (Catalog S-KO-17842) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000001253
NCBI RefSeq
NM_011867
Target Region
Exon 3
Size of Effective Region
~1.1 kb
Detailed Document
Overview of Gene Research
Slc26a4, which encodes pendrin, is a member of the SLC26A transporter family. It transports various ions like bicarbonate, chloride, iodine, and oxalate, and is involved in maintaining hearing function, renal function, blood pressure, and hormone and pH regulation. It is expressed in multiple tissues including the airway epithelium, kidney, thyroid, and tumors [3].
Mutations in Slc26a4 are a common cause of deafness, responsible for Pendred syndrome and non-syndromic enlarged vestibular aqueduct (EVA). In China, the ratio of EVA in the deaf population was at least 11%, with a distinct mutational spectrum among ethnicities and regions. Most variants cause pendrin retention in the intracellular region and significantly reduce its transport capability [1]. Also, Slc26a4-related hearing loss shows different phenotypes depending on the genotype. For example, two mutant alleles are correlated with bilateral EVA and Pendred syndrome, while unilateral EVA and non-syndromic EVA may be associated with one or zero mutant alleles [2].
In conclusion, Slc26a4 is crucial for normal inner ear function, and its mutations can lead to various hearing-related disorders. Understanding the role of Slc26a4 through studies on its mutations in human populations helps in genetic diagnosis, counseling, prenatal testing, and pre-implantation diagnosis for EVA families [1].
References:
1. Yuan, Yongyi, Guo, Weiwei, Tang, Jie, He, David Z Z, Dai, Pu. 2012. Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. In PloS one, 7, e49984. doi:10.1371/journal.pone.0049984. https://pubmed.ncbi.nlm.nih.gov/23185506/
2. Ito, Taku, Choi, Byung Yoon, King, Kelly A, Alper, Seth L, Griffith, Andrew J. 2011. SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. In Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology, 28, 545-52. doi:10.1159/000335119. https://pubmed.ncbi.nlm.nih.gov/22116369/
3. Lee, Dongun, Hong, Jeong Hee. 2024. Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs. In International journal of molecular sciences, 25, . doi:10.3390/ijms25084190. https://pubmed.ncbi.nlm.nih.gov/38673775/
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