C57BL/6JCya-Tmem14cem1/Cya
Common Name:
Tmem14c-KO
Product ID:
S-KO-19176
Background:
C57BL/6JCya
Product Type
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Basic Information
Strain Name
Tmem14c-KO
Strain ID
KOCMP-66154-Tmem14c-B6J-VA
Gene Name
Product ID
S-KO-19176
Gene Alias
1110021D01Rik; HSPC194
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
13
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tmem14cem1/Cya mice (Catalog S-KO-19176) 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 essential for facilitating the import of protoporphyrinogen IX into the mitochondrial matrix. This function is crucial for heme synthesis in the heme biosynthesis pathway, which is vital for hemoglobin production and erythropoiesis [1,3]. Genetic models, such as knockout mouse models, are valuable for studying Tmem14c's role in these processes.
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. Functional rescue of Tmem14c markedly decreases the formation of ring sideroblasts, indicating its role in preventing abnormal iron sequestration in mitochondria [2].
In conclusion, Tmem14c is essential for erythroid mitochondrial heme metabolism. Its deficiency in KO mouse models reveals its critical role in preventing congenital anemias and disorders like myelodysplastic syndrome related to abnormal heme metabolism and iron sequestration. The study of Tmem14c through these models helps to understand the mechanisms underlying erythropoiesis and associated diseases.
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