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C57BL/6NCya-Obsl1em1flox/Cya
Common Name:
Obsl1-flox
Product ID:
S-CKO-17679
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Obsl1-flox
Strain ID
CKOCMP-98733-Obsl1-B6N-VB
Gene Name
Obsl1
Product ID
S-CKO-17679
Gene Alias
-
Background
C57BL/6NCya
NCBI ID
98733
Modification
Conditional knockout
Chromosome
1
Phenotype
MGI:2138628
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/6NCya-Obsl1em1flox/Cya mice (Catalog S-CKO-17679) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000113567
NCBI RefSeq
NM_178884
Target Region
Exon 1~4
Size of Effective Region
~3.7 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Obsl1, or obscurin-like 1, is a gene with diverse functions. It is part of the obscurin protein family, and its members play roles in muscle-related functions such as sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. It may also be involved in the regulation of insulin-like growth factor binding proteins (IGFBPs) and a ubiquitin ligase signaling mechanism related to Golgi morphology and dendrite patterning [1,3,4].

Global Obsl1 knockout mice are embryonically lethal, while skeletal muscle-specific Obsl1 knockouts show a benign phenotype similar to obscurin knockouts. Only when both obscurin and Obsl1 are deleted, their roles in sarcolemmal stability, sarcoplasmic reticulum organization, and muscle metabolism become evident. In the heart, combined loss of Obsc and Obsl1 leads to diastolic dysfunction, altered metabolism, and deregulated mitophagy [1,5].

In conclusion, Obsl1 is crucial for muscle-related functions including sarcolemmal and sarcoplasmic reticulum integrity, and metabolism. Its knockout models, especially in muscle-specific and combined knockouts with obscurin, have revealed its role in cardiac diastolic function and metabolism-related disease conditions. Mutations in Obsl1 are also associated with 3M syndrome, a growth-retardation disorder, highlighting its importance in human growth-related processes [1,2,3,5,6].

References:
1. Blondelle, Jordan, Marrocco, Valeria, Clark, Madison, Ghassemian, Majid, Lange, Stephan. 2019. Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. In Communications biology, 2, 178. doi:10.1038/s42003-019-0405-7. https://pubmed.ncbi.nlm.nih.gov/31098411/
2. Huber, Céline, Munnich, Arnold, Cormier-Daire, Valerie. . The 3M syndrome. In Best practice & research. Clinical endocrinology & metabolism, 25, 143-51. doi:10.1016/j.beem.2010.08.015. https://pubmed.ncbi.nlm.nih.gov/21396581/
3. Huber, Celine, Fradin, Mélanie, Edouard, Thomas, Munnich, Arnold, Cormier-Daire, Valerie. . OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. In Human mutation, 31, 20-6. doi:10.1002/humu.21150. https://pubmed.ncbi.nlm.nih.gov/19877176/
4. Litterman, Nadia, Ikeuchi, Yoshiho, Gallardo, Gilbert, Harper, J Wade, Bonni, Azad. 2011. An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning. In PLoS biology, 9, e1001060. doi:10.1371/journal.pbio.1001060. https://pubmed.ncbi.nlm.nih.gov/21572988/
5. Fujita, Kyohei, Desmond, Patrick, Blondelle, Jordan, Börgeson, Emma, Lange, Stephan. 2025. Combined Loss of Obsc and Obsl1 in Murine Hearts Results in Diastolic Dysfunction, Altered Metabolism, and Deregulated Mitophagy. In Circulation. Heart failure, 18, e011867. doi:10.1161/CIRCHEARTFAILURE.124.011867. https://pubmed.ncbi.nlm.nih.gov/40066567/
6. Luo, Ming-Ran, Dai, Si-Ming, Li, Yin, Zhao, Shu-Jie, Yin, Guo-Yong. . 3M syndrome patient with a novel mutation: A case report. In World journal of clinical cases, 12, 1454-1460. doi:10.12998/wjcc.v12.i8.1454. https://pubmed.ncbi.nlm.nih.gov/38576808/
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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