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C57BL/6JCya-Sorl1em1/Cya
Common Name:
Sorl1-KO
Product ID:
S-KO-18252
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Sorl1-KO
Strain ID
KOCMP-20660-Sorl1-B6J-VB
Gene Name
Sorl1
Product ID
S-KO-18252
Gene Alias
2900010L19Rik; LR11; SorLA; gp250; mSorLA
Background
C57BL/6JCya
NCBI ID
20660
Modification
Conventional knockout
Chromosome
9
Phenotype
MGI:1202296
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-Sorl1em1/Cya mice (Catalog S-KO-18252) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000060989
NCBI RefSeq
NM_011436
Target Region
Exon 5
Size of Effective Region
~0.1 kb
Detailed Document
Click here to download >>
Overview of Gene Research
SORL1, also known as LR11, is a type I transmembrane protein belonging to both the low-density lipoprotein receptor (LDLR) family and the vacuolar protein sorting 10 (VPS10) domain receptor family. It is genetically implicated in Alzheimer's disease (AD) and is a key regulator in the trafficking and processing of amyloid precursor protein (APP), contributing to endosomal degradation and recycling pathways in neurons [1,3].

Loss of SORL1 in mouse models leads to deficits in learning and memory, down-regulation of brain-derived neurotrophic factor in the hippocampus and cortex, and amyloid β-protein deposits in the brain [4]. In human induced pluripotent stem cell-derived neurons, SORL1 depletion impairs endosomal trafficking of proteins like APP, GLUA1, and TRKB, affecting endosomal recycling and neuronal activity [1]. SORL1-null induced pluripotent stem cells differentiated into different cell types show that SORL1 loss leads to neuron-specific reduction in apolipoprotein E (APOE) and clusterin (CLU) [2].

In conclusion, SORL1 plays a crucial role in endosomal trafficking and recycling in neurons, with its deficiency being closely associated with Alzheimer's disease-related phenotypes. Studies using knockout models have significantly enhanced our understanding of SORL1's functions in the context of AD, highlighting its potential as a therapeutic target for this neurodegenerative disease.

References:
1. Mishra, Swati, Knupp, Allison, Szabo, Marcell P, Andersen, Olav M, Young, Jessica E. 2022. The Alzheimer's gene SORL1 is a regulator of endosomal traffic and recycling in human neurons. In Cellular and molecular life sciences : CMLS, 79, 162. doi:10.1007/s00018-022-04182-9. https://pubmed.ncbi.nlm.nih.gov/35226190/
2. Lee, Hyo, Aylward, Aimee J, Pearse, Richard V, Young, Jessica E, Young-Pearse, Tracy L. 2023. Cell-type-specific regulation of APOE and CLU levels in human neurons by the Alzheimer's disease risk gene SORL1. In Cell reports, 42, 112994. doi:10.1016/j.celrep.2023.112994. https://pubmed.ncbi.nlm.nih.gov/37611586/
3. Yin, Rui-Hua, Yu, Jin-Tai, Tan, Lan. 2014. The Role of SORL1 in Alzheimer's Disease. In Molecular neurobiology, 51, 909-18. doi:10.1007/s12035-014-8742-5. https://pubmed.ncbi.nlm.nih.gov/24833601/
4. Zhao, Mingri, Chen, Xun, Liu, Jiangfeng, Liu, Mujun, Hou, Deren. 2023. Sorl1 knockout inhibits expression of brain-derived neurotrophic factor: involvement in the development of late-onset Alzheimer's disease. In Neural regeneration research, 19, 1602-1607. doi:10.4103/1673-5374.387975. https://pubmed.ncbi.nlm.nih.gov/38051905/
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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