C57BL/6JCya-Atp6v1aem1flox/Cya
Common Name:
Atp6v1a-flox
Product ID:
S-CKO-01354
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Atp6v1a-flox
Strain ID
CKOCMP-11964-Atp6v1a-B6J-VA
Gene Name
Product ID
S-CKO-01354
Gene Alias
Atp6a1; Atp6a2; Atp6v1a1; VA68; VPP2
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
16
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Atp6v1aem1flox/Cya mice (Catalog S-CKO-01354) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000114666
NCBI RefSeq
NM_007508
Target Region
Exon 4~6
Size of Effective Region
~3.5 kb
Detailed Document
Overview of Gene Research
Atp6v1a, the ATPase, H+ transporting, lysosomal V1 subunit A, is a component of the cytosolic V1 domain of the proton pump vacuolar ATPase (V-ATPase). V-ATPase is a multimeric complex present in various cellular membranes, acting as an ATP-dependent proton pump crucial for pH homeostasis and intracellular signalling pathways [2].
In murine hippocampal neurons, depletion of Atp6v1a affects neurite elongation, stabilization, and the function of excitatory synapses, and prevents synaptic rearrangement upon induction of plasticity. This is due to decreased expression of V1 subunits, impairment of lysosomal pH-regulation, and autophagy progression, with accumulation of aberrant lysosomes and enlarged vacuoles [1].
In humans, pathogenic de novo missense ATP6V1A variants are associated with a range of phenotypes. These include early lethal encephalopathies with brain atrophy, severe developmental epileptic encephalopathies, and static intellectual disability with epilepsy. Fibroblasts from patients show lysosomal impairment and abnormal organelle pH, and electron microscopy reveals abnormal inclusions [2]. Additionally, in childhood epilepsy, ATP6V1A variants can be associated with different phenotypes, with monoallelic missense variants linked to epilepsy of variable severity, and biallelic variants resulting in multisystem developmental abnormalities [3].
In conclusion, Atp6v1a is essential for maintaining lysosomal function, synaptic integrity, and plasticity. Studies using mouse models and human patient samples have revealed its crucial role in neurodevelopment and the pathophysiology of neurodevelopmental and neurodegenerative diseases. Understanding the function of Atp6v1a through these models provides insights into the underlying mechanisms of related disorders, which may potentially guide the development of new therapeutic strategies.
References:
1. Esposito, Alessandro, Pepe, Sara, Cerullo, Maria Sabina, Falace, Antonio, Fassio, Anna. 2024. ATP6V1A is required for synaptic rearrangements and plasticity in murine hippocampal neurons. In Acta physiologica (Oxford, England), 240, e14186. doi:10.1111/apha.14186. https://pubmed.ncbi.nlm.nih.gov/38837572/
2. Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Novarino, Gaia, Fassio, Anna. . Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. In Brain : a journal of neurology, 145, 2687-2703. doi:10.1093/brain/awac145. https://pubmed.ncbi.nlm.nih.gov/35675510/
3. Li, Bin, Lan, Song, Liu, Xiao-Rong, Wang, Jie, Tian, Yang. 2023. ATP6V1A variants are associated with childhood epilepsy with favorable outcome. In Seizure, 116, 81-86. doi:10.1016/j.seizure.2023.08.004. https://pubmed.ncbi.nlm.nih.gov/37574426/
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