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C57BL/6JCya-Slc9a6em1/Cya
Common Name:
Slc9a6-KO
Product ID:
S-KO-17868
Background:
C57BL/6JCya
Product Type
Age
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Basic Information
Strain Name
Slc9a6-KO
Strain ID
KOCMP-236794-Slc9a6-B6J-VB
Gene Name
Slc9a6
Product ID
S-KO-17868
Gene Alias
3732426M05; 6430520C02Rik; NHE-6; NHE6; mKIAA0267
Background
C57BL/6JCya
NCBI ID
236794
Modification
Conventional knockout
Chromosome
X
Phenotype
MGI:2443511
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-Slc9a6em1/Cya mice (Catalog S-KO-17868) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000077741
NCBI RefSeq
NM_172780
Target Region
Exon 6
Size of Effective Region
~0.1 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Slc9a6, also known as the sodium/hydrogen exchanger 6 (NHE6), is an alkali cation/proton exchanger that regulates recycling endosomal pH homeostasis and trafficking. It is involved in important biological processes within cells, and its function is crucial for normal cellular activities [2,3].

In the shaker rat, a naturally occurring mutation in Slc9a6 leads to progressive ataxia characterized by Purkinje cell loss. An adeno-associated virus (AAV) targeting Slc9a6 expression to Purkinje cells using the mouse L7-6 (L7) promoter reduced the shaker motor, molecular and cellular phenotypes, suggesting AAV-based gene therapy may be a viable therapeutic strategy for Christianson syndrome, which is also caused by Slc9a6 mutation [1]. In a Nhe6 knockout (KO) mouse model of Christianson syndrome, the mice had decreased nocifensive responses to acute noxious thermal, mechanical, and chemical stimuli, indicating that NHE6 is a significant determinant of nociceptor function and pain behaviors impaired in this syndrome [3].

In conclusion, Slc9a6 plays essential roles in maintaining endosomal pH homeostasis and trafficking, which are crucial for normal cellular function. The gene knockout models, such as the shaker rat and Nhe6 KO mice, have revealed its significance in diseases like Christianson syndrome, highlighting its potential as a therapeutic target for related neurological disorders.

References:
1. Figueroa, Karla P, Anderson, Collin J, Paul, Sharan, Scoles, Daniel R, Pulst, Stefan M. . Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat. In Human molecular genetics, 32, 1647-1659. doi:10.1093/hmg/ddad004. https://pubmed.ncbi.nlm.nih.gov/36621975/
2. He, Hailan, Zhang, Huiwen, Chen, Hui, Zou, Xiaomin, Peng, Jing. 2023. Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome. In CNS neuroscience & therapeutics, 29, 4059-4069. doi:10.1111/cns.14329. https://pubmed.ncbi.nlm.nih.gov/37381736/
3. Petitjean, Hugues, Fatima, Tarheen, Mouchbahani-Constance, Stephanie, Orlowski, John, Sharif-Naeini, Reza. . Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome. In Pain, 161, 2619-2628. doi:10.1097/j.pain.0000000000001961. https://pubmed.ncbi.nlm.nih.gov/32569089/
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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