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C57BL/6JCya-Rs1em1flox/Cya
Common Name:
Rs1-flox
Product ID:
S-CKO-04877
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Rs1-flox
Strain ID
CKOCMP-20147-Rs1-B6J-VA
Gene Name
Rs1
Product ID
S-CKO-04877
Gene Alias
Rs1h; Xlrs1; tmgc1
Background
C57BL/6JCya
NCBI ID
20147
Modification
Conditional knockout
Chromosome
X
Phenotype
MGI:1336189
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-Rs1em1flox/Cya mice (Catalog S-CKO-04877) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033650
NCBI RefSeq
NM_011302
Target Region
Exon 4~5
Size of Effective Region
~1.8 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Rs1, encoding retinoschisin, is crucial in the context of congenital retinoschisis [1,2,3,4,6]. Retinoschisin is key for normal retinal structure and function, and the Rs1 gene's role has been investigated in relation to X-linked retinoschisis (XLRS), a monogenic recessive inherited retinal disease [1,2,3,4,6]. Genetic models, such as knockout mice, have been instrumental in understanding its function [1,3,4].

In Rs1-KO mouse models, there are significant impacts on retinal function. Subretinal delivery of AAV2/4-RS1 improved the ERG b/a ratio and visual performance in the dark, with cones showing more effect than rods [1]. Intravitreal application of AAV8-RS1 in a rat model with Rs1 exon-1 deletion rescued inner and outer plexiform layer cavity formation and reduced outer-retinal structure disruption [3]. Additionally, in a study on traumatic brain injury in mice, RS1-KO showed reduced lesion volume, brain edema, and improved motoric disability, suggesting a role in cerebral SGLT1 regulation after injury [5].

In conclusion, Rs1 is essential for normal retinal development and function, as demonstrated by gene-knockout models in the context of XLRS. These models have also revealed its potential role in the response to traumatic brain injury, providing valuable insights into its biological functions and implications for related diseases.

References:
1. Scruggs, Brittni A, Bhattarai, Sajag, Helms, Megan, Baker, Sheila A, Drack, Arlene V. 2022. AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis. In PloS one, 17, e0276298. doi:10.1371/journal.pone.0276298. https://pubmed.ncbi.nlm.nih.gov/36477475/
2. Duan, Chunwen, Ding, Chengcheng, Sun, Xihao, Chen, Jiansu, Tang, Shibo. 2024. Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy. In Stem cell research & therapy, 15, 152. doi:10.1186/s13287-024-03767-4. https://pubmed.ncbi.nlm.nih.gov/38816767/
3. Ye, Eun-Ah, Zeng, Yong, Thomas, Serafina, Smit-McBride, Zeljka, Sieving, Paul A. 2022. XLRS Rat with Rs1-/Y Exon-1-Del Shows Failure of Early Postnatal Outer Retina Development. In Genes, 13, . doi:10.3390/genes13111995. https://pubmed.ncbi.nlm.nih.gov/36360232/
4. Zheng, Yangyang, Xu, Xin, Fan, Ruoyue, Liu, Ying, Luo, Guangzuo. . Intravitreal Delivery of rAAV2-hSyn-hRS1 Results in Retinal Ganglion Cell-Specific Gene Expression and Retinal Improvement in the Rs1-KO Mouse. In Human gene therapy, 35, 342-354. doi:10.1089/hum.2023.209. https://pubmed.ncbi.nlm.nih.gov/38661546/
5. Sebastiani, Anne, Greve, Frederik, Gölz, Christina, Koepsell, Hermann, Thal, Serge C. 2018. RS1 (Rsc1A1) deficiency limits cerebral SGLT1 expression and delays brain damage after experimental traumatic brain injury. In Journal of neurochemistry, 147, 190-203. doi:10.1111/jnc.14551. https://pubmed.ncbi.nlm.nih.gov/30022488/
6. Xiao, Sainan, Sun, Wenmin, Xiao, Xueshan, Wang, Panfeng, Zhang, Qingjiong. 2021. Clinical and genetic features of retinoschisis in 120 families with RS1 mutations. In The British journal of ophthalmology, 107, 367-372. doi:10.1136/bjophthalmol-2021-319668. https://pubmed.ncbi.nlm.nih.gov/34645606/
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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