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C57BL/6JCya-Smg8em1/Cya
Common Name:
Smg8-KO
Product ID:
S-KO-19154
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Smg8-KO
Strain ID
KOCMP-74133-Smg8-B6J-VB
Gene Name
Smg8
Product ID
S-KO-19154
Gene Alias
1200011M11Rik
Background
C57BL/6JCya
NCBI ID
74133
Modification
Conventional knockout
Chromosome
11
Phenotype
MGI:1921383
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-Smg8em1/Cya mice (Catalog S-KO-19154) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000020801
NCBI RefSeq
NM_024262
Target Region
Exon 2
Size of Effective Region
~1.3 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Smg8 is a regulatory subunit involved in nonsense-mediated mRNA decay (NMD), a crucial cellular pathway that regulates mRNA transcription, transcript stability, and degrades transcripts with premature stop codons [4]. It binds to SMG9 and SMG1 to form the SMG1C complex and inhibits the kinase activity of SMG1 [4]. NMD is essential for mammalian embryonic development, brain development, and modulation of the stress response [1].

In humans, recessive, deleterious variants in SMG8 lead to a novel neurodevelopmental disorder with dysmorphic facies and cataracts, now defined as Alzahrani-Kuwahara syndrome (ALKUS) [3,4,5]. Patients with SMG8-related ALKUS show severe global developmental delay, microcephaly, facial dysmorphism, and variable congenital heart and eye malformations [3,4,5]. RNA-seq analysis of patients with SMG8 deficiency reveals a general increase in mRNA expression levels with significant overrepresentation of core NMD substrates, along with increased phosphorylation of UPF1, likely due to loss of SMG8-mediated inhibition of SMG1 kinase activity [3]. Loss-of-function mutations in either SMG8 or SMG9 in gastric cancer models cause ATR inhibitor resistance through an SMG1-mediated mechanism [2].

In conclusion, Smg8 plays a vital role in the NMD pathway, and its deficiency leads to overlapping developmental disorders likely due to impaired NMD. The study of Smg8-related loss-of-function models, especially in the context of ALKUS and gastric cancer, provides insights into the mechanisms underlying these diseases, which may aid in the development of novel therapeutic strategies.

References:
1. Zhu, Li, Li, Liang, Qi, Yilun, Yu, Zishuo, Xu, Yanhui. 2019. Cryo-EM structure of SMG1-SMG8-SMG9 complex. In Cell research, 29, 1027-1034. doi:10.1038/s41422-019-0255-3. https://pubmed.ncbi.nlm.nih.gov/31729466/
2. Llorca-Cardenosa, Marta J, Aronson, Lauren I, Krastev, Dragomir B, Lord, Christopher J, Chong, Irene Y. . SMG8/SMG9 Heterodimer Loss Modulates SMG1 Kinase to Drive ATR Inhibitor Resistance. In Cancer research, 82, 3962-3973. doi:10.1158/0008-5472.CAN-21-4339. https://pubmed.ncbi.nlm.nih.gov/36273494/
3. Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Gao, Xin, Alkuraya, Fowzan S. 2020. Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans. In American journal of human genetics, 107, 1178-1185. doi:10.1016/j.ajhg.2020.11.007. https://pubmed.ncbi.nlm.nih.gov/33242396/
4. Abdel-Salam, Ghada M H, Duan, Ruizhi, Abdel-Hamid, Mohamed S, Marafi, Dana, Lupski, James R. 2021. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. In American journal of medical genetics. Part A, 188, 648-657. doi:10.1002/ajmg.a.62561. https://pubmed.ncbi.nlm.nih.gov/34761517/
5. Fernandes, André Aires, Grangeia, Ana, Dias, Leonor, Guimarães, Joana. 2023. Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene. In American journal of medical genetics. Part A, 191, 2204-2208. doi:10.1002/ajmg.a.63242. https://pubmed.ncbi.nlm.nih.gov/37194129/
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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