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C57BL/6JCya-Adss1em1flox/Cya
Common Name:
Adss1-flox
Product ID:
S-CKO-01088
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Adss1-flox
Strain ID
CKOCMP-11565-Adss1-B6J-VA
Gene Name
Adss1
Product ID
S-CKO-01088
Gene Alias
Adss; Adssl1
Background
C57BL/6JCya
NCBI ID
11565
Modification
Conditional knockout
Chromosome
12
Phenotype
MGI:87947
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-Adss1em1flox/Cya mice (Catalog S-CKO-01088) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000021726
NCBI RefSeq
NM_007421
Target Region
Exon 2
Size of Effective Region
~1.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Adss1, also known as adenylosuccinate synthetase 1, is an enzyme that catalyzes a key step in AMP synthesis and is a component of the purine nucleotide cycle [1,3]. It functions in adenine nucleotide biosynthesis and is abundant in the heart and striated muscle tissues [1,2]. The gene is associated with pathways related to muscle development, cardiac hypertrophy, and purine de novo synthesis [1,2,5]. Genetic models, such as in mouse studies, have been valuable for understanding its functions.

In rodent models, Adss1 was up-regulated in surgically induced cardiac hypertrophy, and in vitro studies on rat neonatal cardiomyocytes showed that angiotensin II treatment activated the Adss1 gene through a calcineurin-NFAT3-dependent pathway [2]. In pigs, Adss1 was predominantly expressed in striated muscle tissues and its expression was up-regulated during muscle growth [1]. Additionally, ADSS1 myopathy, an autosomal recessive muscle disease caused by Adss1 variants, was reported in two siblings, with early involvement of various muscles and cardiomyopathy [4].

In conclusion, Adss1 plays essential roles in muscle and heart development and function, as revealed through model-based research. The gene's up-regulation in cardiac hypertrophy models and its association with ADSS1 myopathy contribute to our understanding of these disease conditions. The findings from different species models, especially mice, help to elucidate its biological functions and the underlying mechanisms in relevant diseases [1,2,4].

References:
1. Li, Xinyun, Zhu, Zhengmao, Mo, Delin, Zhao, Shuhong, Li, Kui. 2007. Comparative molecular characterization of ADSS1 and ADSS2 genes in pig (Sus scrofa). In Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology, 147, 271-7. doi:. https://pubmed.ncbi.nlm.nih.gov/17347008/
2. Wen, H Y, Xia, Y, Young, M E, Taegtmeyer, H, Kellems, R E. . The adenylosuccinate synthetase-1 gene is activated in the hypertrophied heart. In Journal of cellular and molecular medicine, 6, 235-43. doi:. https://pubmed.ncbi.nlm.nih.gov/12169208/
3. Lewis, A L, Guicherit, O M, Datta, S K, Hanten, G R, Kellems, R E. . Structure and expression of the murine muscle adenylosuccinate synthetase gene. In The Journal of biological chemistry, 271, 22647-56. doi:. https://pubmed.ncbi.nlm.nih.gov/8798436/
4. Hama, Yuka, Sano, Terunori, Oya, Yasushi, Takahashi, Yuji, Takao, Masaki. 2025. Two Brothers With ADSS1 Myopathy: A Report of Clinical, Radiological, and Autopsy Findings. In Neuropathology : official journal of the Japanese Society of Neuropathology, , . doi:10.1111/neup.70008. https://pubmed.ncbi.nlm.nih.gov/40302423/
5. Zhang, Pengfei, Sun, Huimin, Cheng, Xinyu, Du, Yunbo, Zeng, Changchun. 2022. Dietary intake of fructose increases purine de novo synthesis: A crucial mechanism for hyperuricemia. In Frontiers in nutrition, 9, 1045805. doi:10.3389/fnut.2022.1045805. https://pubmed.ncbi.nlm.nih.gov/36601078/
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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