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C57BL/6JCya-Mdficem1flox/Cya
Common Name:
Mdfic-flox
Product ID:
S-CKO-18480
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Mdfic-flox
Strain ID
CKOCMP-16543-Mdfic-B6J-VB
Gene Name
Mdfic
Product ID
S-CKO-18480
Gene Alias
Kdt1; Mdfid
Background
C57BL/6JCya
NCBI ID
16543
Modification
Conditional knockout
Chromosome
6
Phenotype
MGI:104611
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-Mdficem1flox/Cya mice (Catalog S-CKO-18480) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000189359
NCBI RefSeq
NM_175088
Target Region
Exon 5
Size of Effective Region
~3.9 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Mdfic, short for MyoD family inhibitor domain containing protein, is a transcriptional regulator that binds to PIEZO1/2 channels, regulating their inactivation [1]. It also plays a role in myogenic processes as it is involved in the regulation of myogenic transcription factors [3]. Additionally, Mdfic has connections to various signaling pathways and biological processes, such as integrin β1 activation which is crucial for collective cell migration during lymphatic vessel valve development [2].

In central conducting lymphatic anomaly (CCLA), biallelic pathogenic variants in MDFIC were identified in seven individuals from six independent families. A mouse model of human MDFIC truncation variants showed that homozygous mutant mice died perinatally with chylothorax, and had profound mispatterning in the lymphatic vasculature and major defects in lymphatic vessel valve development [2]. Also, a 13-year-old female patient with CCLA associated with an MDFIC mutation suffered from a severe group A Streptococcus sepsis, suggesting that the MDFIC mutation may contribute to the severe clinical course of sepsis, potentially affecting the immune system both indirectly via CCLA and directly through influencing transcriptional activity in immune cells [4].

In conclusion, Mdfic is essential in regulating PIEZO channel inactivation and myogenic processes. The gene knockout mouse models for Mdfic have revealed its crucial role in CCLA and associated immune-related complications, such as group A Streptococcus sepsis. These findings contribute to understanding the genetic and mechanistic basis of related diseases, which may facilitate the development of new therapeutic approaches.

References:
1. Zhou, Zijing, Ma, Xiaonuo, Lin, Yiechang, Zhang, Yixiao, Cox, Charles D. 2023. MyoD-family inhibitor proteins act as auxiliary subunits of Piezo channels. In Science (New York, N.Y.), 381, 799-804. doi:10.1126/science.adh8190. https://pubmed.ncbi.nlm.nih.gov/37590348/
2. Byrne, Alicia B, Brouillard, Pascal, Sutton, Drew L, Scott, Hamish S, Harvey, Natasha L. 2022. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. In Science translational medicine, 14, eabm4869. doi:10.1126/scitranslmed.abm4869. https://pubmed.ncbi.nlm.nih.gov/35235341/
3. Sui, Yuan, Li, Xiaomeng, Oh, Sangphil, Shin, Sook, Janknecht, Ralf. 2020. Opposite Roles of the JMJD1A Interaction Partners MDFI and MDFIC in Colorectal Cancer. In Scientific reports, 10, 8710. doi:10.1038/s41598-020-65536-6. https://pubmed.ncbi.nlm.nih.gov/32457453/
4. Weidner, Johannes, Fiedler, Kai, Schulze-Becking, Mechthild, Korenke, Christoph, Heep, Axel. 2024. Case Report: MDFIC gene mutation resulting in central conducting lymphatic anomaly facilitates group A Streptococcus sepsis. In Frontiers in pediatrics, 12, 1367532. doi:10.3389/fped.2024.1367532. https://pubmed.ncbi.nlm.nih.gov/39386015/
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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