C57BL/6JCya-Anxa11em1flox/Cya
Common Name:
Anxa11-flox
Product ID:
S-CKO-01207
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Anxa11-flox
Strain ID
CKOCMP-11744-Anxa11-B6J-VA
Gene Name
Product ID
S-CKO-01207
Gene Alias
100039484; 100039503; A830099O17Rik; Anx11; Gm2260; Gm2274
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
14
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Anxa11em1flox/Cya mice (Catalog S-CKO-01207) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000022416
NCBI RefSeq
NM_013469
Target Region
Exon 3
Size of Effective Region
~0.8 kb
Detailed Document
Overview of Gene Research
Anxa11, encoding a Ca2+-dependent phospholipid-binding protein, has functions related to intracellular Ca2+ homeostasis, stress granule dynamics, and serves as a molecular tether between RNA granules and lysosomes for long-distance RNA transport [3,5]. It is involved in pathways like protein-lipid phase coupling on lysosomal membranes [4].
Mutations in Anxa11 are associated with various neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), corticobasal syndrome, and multisystem proteinopathy [1,3-5,9]. For example, the P93S variant in Anxa11 dysregulates TDP-43, leading to decreased lysosome colocalization, neuritic RNA, and nuclear TDP-43, and is pathogenic for corticobasal syndrome [1,2]. ALS-associated mutations in Anxa11 can cause abnormal protein aggregation, dysregulation of calcium homeostasis, and defects in stress granule disassembly [3].
In conclusion, Anxa11 is crucial for maintaining normal cellular functions related to RNA transport, calcium homeostasis, and stress granule dynamics. Research on Anxa11-associated mutations in genetic models has revealed its significant role in neurodegenerative disease pathogenesis, providing insights into potential disease mechanisms and therapeutic targets for these disorders.
References:
1. Snyder, Allison, Ryan, Veronica H, Hawrot, James, Cookson, Mark R, Ward, Michael E. 2024. An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome. In Alzheimer's & dementia : the journal of the Alzheimer's Association, 20, 5220-5235. doi:10.1002/alz.13915. https://pubmed.ncbi.nlm.nih.gov/38923692/
2. Snyder, Allison, Ryan, Veronica H, Hawrot, James, Cookson, Mark R, Ward, Michael E. 2023. An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome. In Research square, , . doi:10.21203/rs.3.rs-3462973/v1. https://pubmed.ncbi.nlm.nih.gov/37886540/
3. Nahm, Minyeop, Lim, Su Min, Kim, Young-Eun, Ki, Chang-Seok, Kim, Seung Hyun. . ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics. In Science translational medicine, 12, . doi:10.1126/scitranslmed.aax3993. https://pubmed.ncbi.nlm.nih.gov/33087501/
4. Nixon-Abell, Jonathon, Ruggeri, Francesco S, Qamar, Seema, Knowles, Tuomas P J, St George-Hyslop, Peter. 2023. ANXA11 biomolecular condensates facilitate protein-lipid phase coupling on lysosomal membranes. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.03.22.533832. https://pubmed.ncbi.nlm.nih.gov/36993242/
5. Liao, Ya-Cheng, Fernandopulle, Michael S, Wang, Guozhen, Lippincott-Schwartz, Jennifer, Ward, Michael E. . RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether. In Cell, 179, 147-164.e20. doi:10.1016/j.cell.2019.08.050. https://pubmed.ncbi.nlm.nih.gov/31539493/
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