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C57BL/6JCya-Khdc3em1flox/Cya
Common Name:
Khdc3-flox
Product ID:
S-CKO-18572
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Khdc3-flox
Strain ID
CKOCMP-66991-Khdc3-B6J-VA
Gene Name
Khdc3
Product ID
S-CKO-18572
Gene Alias
2410004A20Rik; FILIA; OEEP48
Background
C57BL/6JCya
NCBI ID
66991
Modification
Conditional knockout
Chromosome
9
Phenotype
MGI:1914241
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Khdc3em1flox/Cya mice (Catalog S-CKO-18572) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034737
NCBI RefSeq
NM_025890
Target Region
Exon 1~3
Size of Effective Region
~3.5 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Khdc3, also known as Filia, is a gene encoding a KH-domain protein. It is a component of the sub-cortical maternal complex (SCMC), which is essential for early embryogenesis and female fertility, conserved across mammals. The SCMC is involved in processes such as cytoplasmic lattice formation, organelle distribution, and is hypothesized to play roles in chromatin reprogramming and embryonic genome activation [3,4,5].

Acute deletion of all three Tet genes in mouse embryonic stem cells (mESC) leads to decreased expression of Khdc3, resulting in chromosome mis-segregation, aneuploidy, and mitotic infidelity, indicating that TET proteins regulate Khdc3 gene expression and its deficiency contributes to genome instability [1]. Also, female mice descended from ancestors with a Khdc3 mutation have hepatic metabolic defects that persist over multiple generations, suggesting its role in trans-generational inheritance of phenotypes [2].

In conclusion, Khdc3 plays crucial roles in early embryonic development, genome stability, and trans-generational metabolism regulation. Mouse models with Khdc3-related gene knockouts have revealed its functions in these biological processes, potentially providing insights into diseases related to embryonic development disorders and metabolic diseases.

References:
1. Georges, Romain O, Sepulveda, Hugo, Angel, J Carlos, López-Moyado, Isaac F, Rao, Anjana. 2022. Acute deletion of TET enzymes results in aneuploidy in mouse embryonic stem cells through decreased expression of Khdc3. In Nature communications, 13, 6230. doi:10.1038/s41467-022-33742-7. https://pubmed.ncbi.nlm.nih.gov/36266342/
2. Senaldi, Liana, Hassan, Nora, Cullen, Sean, Conine, Colin, Smith-Raska, Matthew. 2024. Khdc3 Regulates Metabolism Across Generations in a DNA-Independent Manner. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.02.27.582278. https://pubmed.ncbi.nlm.nih.gov/38464133/
3. Bebbere, Daniela, Ariu, Federica, Bogliolo, Luisa, Falchi, Laura, Ledda, Sergio. 2014. Expression of maternally derived KHDC3, NLRP5, OOEP and TLE6 is associated with oocyte developmental competence in the ovine species. In BMC developmental biology, 14, 40. doi:10.1186/s12861-014-0040-y. https://pubmed.ncbi.nlm.nih.gov/25420964/
4. Qin, Dandan, Gao, Zheng, Xiao, Yi, Yi, Zhaohong, Li, Lei. 2019. The subcortical maternal complex protein Nlrp4f is involved in cytoplasmic lattice formation and organelle distribution. In Development (Cambridge, England), 146, . doi:10.1242/dev.183616. https://pubmed.ncbi.nlm.nih.gov/31575650/
5. Bebbere, D, Masala, L, Albertini, D F, Ledda, S. 2016. The subcortical maternal complex: multiple functions for one biological structure? In Journal of assisted reproduction and genetics, 33, 1431-1438. doi:. https://pubmed.ncbi.nlm.nih.gov/27525657/
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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