C57BL/6JCya-Mfsd12em1flox/Cya
Common Name:
Mfsd12-flox
Product ID:
S-CKO-15775
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Mfsd12-flox
Strain ID
CKOCMP-73822-Mfsd12-B6J-VA
Gene Name
Product ID
S-CKO-15775
Gene Alias
C19orf28; F630110N24Rik; Wdt1; gr
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
10
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mfsd12em1flox/Cya mice (Catalog S-CKO-15775) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000044844
NCBI RefSeq
NM_028657.4
Target Region
Exon 2
Size of Effective Region
~1.2 kb
Detailed Document
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 cystine levels in melanosomes, which is related to pheomelanin synthesis. It also plays a role in lysosomal cyst(e)ine storage, influencing redox regulation in cancer cells [2].
In mice, suppression of MFSD12 leads to darker pigmentation [1]. The MFSD12 p.Tyr182His variant in mice can alter the coat color, indicating its role in mammalian pigmentation [4]. In experimental models of cystinosis, MFSD12 depletion reduces cystine accumulation but does not improve proximal tubular function [3].
In conclusion, MFSD12 is vital for cysteine import in melanosomes and lysosomes, influencing pigmentation and redox regulation in cancer cells. The study of MFSD12 through gene-knockout models in mice has provided insights into its role in pigmentation-related processes and lysosomal storage diseases like cystinosis.
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. 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/
4. 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