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C57BL/6JCya-Mau2em1/Cya
Common Name:
Mau2-KO
Product ID:
S-KO-18003
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Mau2-KO
Strain ID
KOCMP-74549-Mau2-B6J-VA
Gene Name
Mau2
Product ID
S-KO-18003
Gene Alias
9130404D08Rik; A930019L04Rik; Mau-2; mKIAA0892
Background
C57BL/6JCya
NCBI ID
74549
Modification
Conventional knockout
Chromosome
8
Phenotype
MGI:1921799
Document
Click here to download >>
Application
--
More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mau2em1/Cya mice (Catalog S-KO-18003) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000212308
NCBI RefSeq
NM_001167939
Target Region
Exon 10~12
Size of Effective Region
~1.9 kb
Detailed Document
Click here to download >>
Overview of Gene Research
MAU2, also known as Scc4, is a protein-encoding gene. It forms a heterodimer with NIPBL, and this complex is crucial for loading the cohesin complex onto chromatin [2,4,6,8]. Cohesin is involved in multiple biological processes such as chromatin structure organization, gene regulation, sister chromatid pairing during cell division, DNA repair, and gene transcription and silencing [1,4].

In mouse models, neural crest cell-specific inactivation of Mau2 strongly affects craniofacial development. Surprisingly, early neural crest cell proliferation and migration are only moderately affected. Moreover, Mau2 single homozygous mutants exhibit a more severe craniofacial phenotype compared to Nipbl;Mau2 double homozygous mutants, suggesting that the Mau2/Nipbl interaction may not only be for cohesin loading but also to restrict Nipbl-regulated gene expression [8]. In humans, loss-of-function variants in MAU2 can cause Cornelia de Lange syndrome (CdLS), a rare congenital developmental disorder. A novel MAU2 variant in a Chinese patient with CdLS led to reduced exogenous mutant protein level and potentially impacted the structural stability of the MAU2/NIPBL complex [2,7]. Genome-wide association studies have also associated MAU2 with non-alcoholic fatty liver disease (NAFLD) and identified it as a potential susceptibility locus for HCC [3,5].

In conclusion, MAU2 is essential for loading cohesin onto chromatin, playing a vital role in various biological processes. Studies using mouse models and human patient samples have revealed its significance in craniofacial development and its association with diseases like CdLS, NAFLD, and HCC. These findings enhance our understanding of the biological functions related to MAU2 and the mechanisms underlying these diseases.

References:
1. Davidson, Iain F, Bauer, Benedikt, Goetz, Daniela, Wutz, Gordana, Peters, Jan-Michael. 2019. DNA loop extrusion by human cohesin. In Science (New York, N.Y.), 366, 1338-1345. doi:10.1126/science.aaz3418. https://pubmed.ncbi.nlm.nih.gov/31753851/
2. Parenti, Ilaria, Diab, Farah, Gil, Sara Ruiz, Kaiser, Frank J, Wendt, Kerstin S. . MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome. In Cell reports, 31, 107647. doi:10.1016/j.celrep.2020.107647. https://pubmed.ncbi.nlm.nih.gov/32433956/
3. Ghodsian, Nooshin, Abner, Erik, Emdin, Connor A, Esko, Tõnu, Arsenault, Benoit J. 2021. Electronic health record-based genome-wide meta-analysis provides insights on the genetic architecture of non-alcoholic fatty liver disease. In Cell reports. Medicine, 2, 100437. doi:10.1016/j.xcrm.2021.100437. https://pubmed.ncbi.nlm.nih.gov/34841290/
4. Minina, Elena A, Reza, Salim Hossain, Gutierrez-Beltran, Emilio, Bozhkov, Peter V, Moschou, Panagiotis N. 2017. The Arabidopsis homolog of Scc4/MAU2 is essential for embryogenesis. In Journal of cell science, 130, 1051-1063. doi:10.1242/jcs.196865. https://pubmed.ncbi.nlm.nih.gov/28137757/
5. Hassan, Manal M, Li, Donghui, Han, Younghun, Roberts, Lewis R, Amos, Christopher I. 2024. Genome-wide association study identifies high-impact susceptibility loci for HCC in North America. In Hepatology (Baltimore, Md.), 80, 87-101. doi:10.1097/HEP.0000000000000800. https://pubmed.ncbi.nlm.nih.gov/38381705/
6. Visnes, T, Giordano, F, Kuznetsova, A, Calof, A L, Ström, L. 2013. Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase I. In Chromosoma, 123, 239-52. doi:10.1007/s00412-013-0444-7. https://pubmed.ncbi.nlm.nih.gov/24287868/
7. Peng, Yin, Zhu, Ying, Wu, Lin, Deng, Fang. 2023. Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy. In Molecular genetics & genomic medicine, 12, e2318. doi:10.1002/mgg3.2318. https://pubmed.ncbi.nlm.nih.gov/37962004/
8. Smith, Terence Gordon, Laval, Steve, Chen, Fangli, Strachan, Tom, Peters, Heiko. 2014. Neural crest cell-specific inactivation of Nipbl or Mau2 during mouse development results in a late onset of craniofacial defects. In Genesis (New York, N.Y. : 2000), 52, 687-94. doi:10.1002/dvg.22780. https://pubmed.ncbi.nlm.nih.gov/24700590/
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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