C57BL/6JCya-Slc4a10em1flox/Cya
Common Name:
Slc4a10-flox
Product ID:
S-CKO-17258
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Slc4a10-flox
Strain ID
CKOCMP-94229-Slc4a10-B6J-VA
Gene Name
Product ID
S-CKO-17258
Gene Alias
NCBE; mKIAA4136
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-Slc4a10em1flox/Cya mice (Catalog S-CKO-17258) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000112480
NCBI RefSeq
NM_001242380
Target Region
Exon 2
Size of Effective Region
~0.6 kb
Detailed Document
Overview of Gene Research
Slc4a10, also known as NBCn2 or NCBE, is a plasma-membrane bound transporter. It utilizes the Na+ gradient to drive cellular HCO3-uptake, mediating acid extrusion. It is involved in cation-coupled bicarbonate transport pathways, which are crucial for intracellular pH control, transcellular movement of acid-base equivalents, and are essential for diverse tissue functions including neuronal discharge and sensory neuron development [4]. Mouse models have been valuable for studying its function.
Slc4a10 knockout (KO) mice display multiple phenotypes. They have collapsed brain ventricles, suggesting its importance in cerebrospinal fluid (CSF) production [1,2,6]. These mice also show mild behavioral abnormalities, delayed habituation, and alterations in the two-object novel object recognition task [1]. Functionally, the release of the inhibitory neurotransmitter GABA is compromised in Slc4a10-/-mice, while glutamate release is preserved, indicating its role in inhibitory synaptic transmission [1]. Additionally, Slc4a10 KO mice have early-onset progressive hearing loss, reduced endocochlear potential, and outer hair cell degeneration, highlighting its role in inner ear homeostasis [3]. In terms of neuronal excitability, disruption of Slc4a10 augments neuronal excitability and modulates synaptic short-term plasticity in the hippocampus and neocortex [5].
In conclusion, Slc4a10 is essential for multiple biological processes. Through KO mouse models, its role in CSF production, neuronal function including synaptic transmission and excitability, and inner ear homeostasis has been revealed. These findings are relevant to understanding neurodevelopmental disorders, as biallelic loss-of-function variants in SLC4A10 in humans cause a neurodevelopmental disorder with features like hypotonia, delayed psychomotor development, and intellectual impairment [1,2].
References:
1. Fasham, James, Huebner, Antje K, Liebmann, Lutz, Baple, Emma L, Hübner, Christian A. . SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. In Brain : a journal of neurology, 146, 4547-4561. doi:10.1093/brain/awad235. https://pubmed.ncbi.nlm.nih.gov/37459438/
2. Maroofian, Reza, Zamani, Mina, Kaiyrzhanov, Rauan, Houlden, Henry, Hübner, Christian A. 2023. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. In Genetics in medicine : official journal of the American College of Medical Genetics, 26, 101034. doi:10.1016/j.gim.2023.101034. https://pubmed.ncbi.nlm.nih.gov/38054405/
3. Huebner, Antje K, Maier, Hannes, Maul, Alena, Praetorius, Jeppe, Hübner, Christian A. 2019. Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice. In Journal of the Association for Research in Otolaryngology : JARO, 20, 233-245. doi:10.1007/s10162-019-00719-1. https://pubmed.ncbi.nlm.nih.gov/31001720/
4. Aalkjaer, Christian, Boedtkjer, Ebbe, Choi, Inyeong, Lee, Soojung. . Cation-coupled bicarbonate transporters. In Comprehensive Physiology, 4, 1605-37. doi:10.1002/cphy.c130005. https://pubmed.ncbi.nlm.nih.gov/25428855/
5. Sinning, Anne, Liebmann, Lutz, Hübner, Christian A. 2015. Disruption of Slc4a10 augments neuronal excitability and modulates synaptic short-term plasticity. In Frontiers in cellular neuroscience, 9, 223. doi:10.3389/fncel.2015.00223. https://pubmed.ncbi.nlm.nih.gov/26136660/
6. Jacobs, Stefan, Ruusuvuori, Eva, Sipilä, Sampsa T, Voipio, Juha, Hübner, Christian A. 2007. Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability. In Proceedings of the National Academy of Sciences of the United States of America, 105, 311-6. doi:10.1073/pnas.0705487105. https://pubmed.ncbi.nlm.nih.gov/18165320/
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