C57BL/6JCya-Tmem30aem1flox/Cya
Common Name:
Tmem30a-flox
Product ID:
S-CKO-14704
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tmem30a-flox
Strain ID
CKOCMP-69981-Tmem30a-B6J-VA
Gene Name
Product ID
S-CKO-14704
Gene Alias
2010200I23Rik; Cdc50a; D9Wsu20e
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tmem30aem1flox/Cya mice (Catalog S-CKO-14704) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034878
NCBI RefSeq
NM_133718
Target Region
Exon 3~5
Size of Effective Region
~2.9 kb
Detailed Document
Overview of Gene Research
Tmem30a, also named CDC50A, is the β -subunit of P4 -ATPase. P4 -ATPases function as lipid flippases to maintain the abundance of phosphatidylserine (PS) and phosphatidylethanolamine (PE) in the inner leaflet of the mammalian plasma membrane, and Tmem30a facilitates their transport and functions. Its proper function is crucial for maintaining cellular stability and homeostasis, and its deficiency has wide-ranging impacts on various biological processes [3].
In hair cells of the cochlea, deletion of Tmem30a in mice led to disrupted planar polarity and stereocilia bundles, progressive hair cell loss starting at P7 and finishing around P14, and ultimately auditory dysfunction. This is due to overwhelming endoplasmic reticulum stress caused by excessive ATP8A2 accumulation in the cytoplasm without the Tmem30a chaperone [1].
In podocytes, Tmem30a expression was downregulated in patients with FSGS, adriamycin-induced mice, and podocyte-specific Tmem30a loxP/loxP; NPHS2-Cre mice. Its deficiency was associated with increased pyroptosis-related proteins, suggesting it may protect against podocyte injury by inhibiting pyroptosis [2].
In endothelial cells, knockdown of Tmem30a in primary human retinal endothelial cells reduced tube formation, and EC-specific deletion of Tmem30a in mice led to retarded retinal vascular development, impaired vessel barrier integrity, and reduced EC proliferation by inhibiting VEGF-induced signaling [4].
In retinal rod bipolar cells, RBC-specific Tmem30a knockout mice showed defective RBC function, progressive RBC death, dendritic sprouting, and impaired synaptic efficacy [5].
In B-cell lymphoma, TMEM30A loss-of-function mutations were associated with a favorable outcome, increased accumulation of chemotherapy drugs, and enhanced anti-CD47 blockade effect, while also increasing B-cell signaling following antigen stimulation [6].
In leukemia cells, deletion of Tmem30a led to increased surface levels of phosphatidylserine, reduced NK cell degranulation and cytokine production, and lower susceptibility to NK cell cytotoxicity [7].
In renal tubular epithelial cells, knockdown of Tmem30a reduced vesicle transporter protein synthesis, leading to decreased transport and expression of SGLT2 and reduced glucose absorption [8]. Liver-specific deficiency of Tmem30a developed spontaneous hepatocellular carcinoma [9].
In conclusion, Tmem30a is essential for maintaining cell polarity, membrane homeostasis, and normal physiological functions in multiple cell types. Gene knockout and conditional knockout mouse models have revealed its crucial roles in diseases such as sensorineural hearing loss, podocytopathies, vascular development-related disorders, retinal diseases, lymphoma, leukemia, and hepatocellular carcinoma, providing potential therapeutic targets for these diseases.
References:
1. Xing, Yazhi, Peng, Kun, Yi, Qian, Yang, Guang, Yin, Shankai. 2023. TMEM30A is essential for hair cell polarity maintenance in postnatal mouse cochlea. In Cellular & molecular biology letters, 28, 23. doi:10.1186/s11658-023-00437-w. https://pubmed.ncbi.nlm.nih.gov/36959542/
2. Hou, Yanpei, Chen, Sipei, Peng, Lei, Li, Yi, Li, Guisen. 2024. Tmem30a protects against podocyte injury through suppression of pyroptosis. In iScience, 27, 109976. doi:10.1016/j.isci.2024.109976. https://pubmed.ncbi.nlm.nih.gov/38868200/
3. Li, Jingyi, Zhao, Yue, Wang, Na. 2023. Physiological and Pathological Functions of TMEM30A: An Essential Subunit of P4-ATPase Phospholipid Flippases. In Journal of lipids, 2023, 4625567. doi:10.1155/2023/4625567. https://pubmed.ncbi.nlm.nih.gov/37200892/
4. Zhang, Shanshan, Liu, Wenjing, Yang, Yeming, Zhang, Lin, Zhu, Xianjun. 2019. TMEM30A deficiency in endothelial cells impairs cell proliferation and angiogenesis. In Journal of cell science, 132, . doi:10.1242/jcs.225052. https://pubmed.ncbi.nlm.nih.gov/30814335/
5. Yang, Yeming, Liu, Wenjing, Sun, Kuanxiang, Jiang, Li, Zhu, Xianjun. 2019. Tmem30a deficiency leads to retinal rod bipolar cell degeneration. In Journal of neurochemistry, 148, 400-412. doi:10.1111/jnc.14643. https://pubmed.ncbi.nlm.nih.gov/30548540/
6. Ennishi, Daisuke, Healy, Shannon, Bashashati, Ali, Scott, David W, Steidl, Christian. 2020. TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma. In Nature medicine, 26, 577-588. doi:10.1038/s41591-020-0757-z. https://pubmed.ncbi.nlm.nih.gov/32094924/
7. Kristenson, Linnea, Badami, Chiara, Ljungberg, Angelica, Tang, Ka-Wei, Thorén, Fredrik B. 2024. Deletion of the TMEM30A gene enables leukemic cell evasion of NK cell cytotoxicity. In Proceedings of the National Academy of Sciences of the United States of America, 121, e2316447121. doi:10.1073/pnas.2316447121. https://pubmed.ncbi.nlm.nih.gov/38557174/
8. Chen, Sipei, Song, Xinrou, Xiao, Qiong, Zou, Yang, Li, Guisen. 2023. Knockdown of TMEM30A in renal tubular epithelial cells leads to reduced glucose absorption. In BMC nephrology, 24, 250. doi:10.1186/s12882-023-03299-8. https://pubmed.ncbi.nlm.nih.gov/37612668/
9. Liu, Leiming, Xia, Zhiqing, Zhang, Yongming, Sun, Leimin, Zhang, Lingling. 2023. Liver-specific deficiency of TMEM30A develops spontaneous hepatocellular carcinoma. In Gastroenterology report, 11, goad003. doi:10.1093/gastro/goad003. https://pubmed.ncbi.nlm.nih.gov/36727113/
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