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C57BL/6JCya-Mfsd12em1/Cya
Common Name:
Mfsd12-KO
Product ID:
S-KO-19147
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Mfsd12-KO
Strain ID
KOCMP-73822-Mfsd12-B6J-VB
Gene Name
Mfsd12
Product ID
S-KO-19147
Gene Alias
C19orf28; F630110N24Rik; Wdt1; gr
Background
C57BL/6JCya
NCBI ID
73822
Modification
Conventional knockout
Chromosome
10
Phenotype
MGI:3604804
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-Mfsd12em1/Cya mice (Catalog S-KO-19147) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000044844
NCBI RefSeq
NM_028657
Target Region
Exon 2
Size of Effective Region
~1.2 kb
Detailed Document
Click here to download >>
Overview of Gene Research
MFSD12, the major facilitator superfamily domain containing 12 protein, is essential as a transmembrane transporter. It mediates the import of cysteine into melanosomes and lysosomes [1]. This function is crucial for maintaining normal levels of cystine in melanosomes, producing precursors for pheomelanin synthesis, and for redox regulation in cells as cyst(e)ine is a key precursor for glutathione synthesis [1,2]. It is also involved in lysosomal lipid peroxidation regulation and glycosphingolipid metabolism by modulating lysosome homeostasis [3,4]. Genetic models like mouse models are valuable for studying MFSD12.

In a mouse knock-in model mimicking the human MFSD12 p.Tyr182His variant, the mice showed an altered coat color, indicating the role of this variant in mammalian pigmentation [6]. In cystinosis experimental models, MFSD12 knockout led to reduced cystine levels in patient-derived proximal tubular epithelial cells and zebrafish embryos, though without improvement in proximal tubular function [5]. In breast cancer cells, MFSD12-T254A mutant inhibited MFSD12 function and suppressed tumor progression [2].

In conclusion, MFSD12 plays vital roles in cysteine transport into melanosomes and lysosomes, which impacts pigmentation, redox regulation, and lysosomal function. Studies using KO/CKO mouse models and other genetic models have revealed its significance in conditions like cystinosis and cancer, providing insights into potential therapeutic targets for these diseases.

References:
1. Adelmann, Charles H, Traunbauer, Anna K, Chen, Brandon, Lewis, Caroline A, Sabatini, David M. 2020. MFSD12 mediates the import of cysteine into melanosomes and lysosomes. In Nature, 588, 699-704. doi:10.1038/s41586-020-2937-x. https://pubmed.ncbi.nlm.nih.gov/33208952/
2. He, Lixin, Chen, Jinxin, Deng, Pinwei, Song, Libing, Lin, Chuyong. 2023. Lysosomal cyst(e)ine storage potentiates tolerance to oxidative stress in cancer cells. In Molecular cell, 83, 3502-3519.e11. doi:10.1016/j.molcel.2023.08.032. https://pubmed.ncbi.nlm.nih.gov/37751742/
3. Hong, Yun, Tian, Zheng, Jia, Liangjie, Wang, Yiguo. . MFSD12 affects glycosphingolipid metabolism by modulating lysosome homeostasis. In Protein & cell, 14, 459-463. doi:10.1093/procel/pwac034. https://pubmed.ncbi.nlm.nih.gov/37042053/
4. Bhardwaj, Monika, Lee, Jennifer J, Versace, Amanda M, Speicher, David W, Amaravadi, Ravi K. 2023. Lysosomal lipid peroxidation regulates tumor immunity. In The Journal of clinical investigation, 133, . doi:10.1172/JCI164596. https://pubmed.ncbi.nlm.nih.gov/36795483/
5. Bondue, Tjessa, Khodaparast, Laleh, Khodaparast, Ladan, van den Heuvel, Lambertus, Levtchenko, Elena. 2024. MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis. In American journal of physiology. Renal physiology, 326, F981-F987. doi:10.1152/ajprenal.00014.2024. https://pubmed.ncbi.nlm.nih.gov/38545650/
6. Watkins-Chow, Dawn E, Incao, Arturo A, Rivas, Cecelia, Garrett, Lisa J, Pavan, William J. 2023. The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color. In Pigment cell & melanoma research, 37, 259-264. doi:10.1111/pcmr.13144. https://pubmed.ncbi.nlm.nih.gov/37874775/
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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