C57BL/6JCya-Tmem14cem1flox/Cya
Common Name:
Tmem14c-flox
Product ID:
S-CKO-19297
Background:
C57BL/6JCya
Product Type
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Basic Information
Strain Name
Tmem14c-flox
Strain ID
CKOCMP-66154-Tmem14c-B6J-VB
Gene Name
Product ID
S-CKO-19297
Gene Alias
1110021D01Rik; HSPC194
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
13
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tmem14cem1flox/Cya mice (Catalog S-CKO-19297) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000021790
NCBI RefSeq
NM_025387
Target Region
Exon 3~4
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
Tmem14c, an inner mitochondrial membrane protein enriched in vertebrate hematopoietic tissues, is crucial for heme metabolism and erythropoiesis. It facilitates the import of protoporphyrinogen IX into the mitochondrial matrix for heme synthesis, a key process for hemoglobin production in red blood cells [1,3].
In mice, Tmem14c deficiency leads to porphyrin accumulation in the fetal liver, erythroid maturation arrest, and embryonic lethality due to profound anemia. Protoporphyrin IX synthesis in Tmem14c -deficient erythroid cells is blocked, causing an accumulation of porphyrin precursors [1].
In an induced pluripotent stem cell model of SF3B1 -mutant myelodysplastic syndrome, mutant SF3B1 induces missplicing of Tmem14c, reducing its protein expression and leading to ring sideroblast formation, which can be rescued by functional restoration of Tmem14c [2].
In summary, Tmem14c is essential for erythroid mitochondrial heme metabolism. Mouse models with Tmem14c deficiency have been instrumental in revealing its role in erythropoiesis and in understanding diseases like myelodysplastic syndrome associated with its dysregulation.
References：
1. Yien, Yvette Y, Robledo, Raymond F, Schultz, Iman J, Peters, Luanne L, Paw, Barry H. 2014. TMEM14C is required for erythroid mitochondrial heme metabolism. In The Journal of clinical investigation, 124, 4294-304. doi:10.1172/JCI76979. https://pubmed.ncbi.nlm.nih.gov/25157825/
2. Clough, Courtnee A, Pangallo, Joseph, Sarchi, Martina, Bradley, Robert K, Doulatov, Sergei. . Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome. In Blood, 139, 2038-2049. doi:10.1182/blood.2021012652. https://pubmed.ncbi.nlm.nih.gov/34861039/
3. Nilsson, Roland, Schultz, Iman J, Pierce, Eric L, Paw, Barry H, Mootha, Vamsi K. . Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. In Cell metabolism, 10, 119-30. doi:10.1016/j.cmet.2009.06.012. https://pubmed.ncbi.nlm.nih.gov/19656490/
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