C57BL/6JCya-Tuba1aem1/Cya
Common Name:
Tuba1a-KO
Product ID:
S-KO-19078
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tuba1a-KO
Strain ID
KOCMP-22142-Tuba1a-B6J-VA
Gene Name
Product ID
S-KO-19078
Gene Alias
Tuba-1; Tuba1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
15
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tuba1aem1/Cya mice (Catalog S-KO-19078) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000097014
NCBI RefSeq
NM_011653
Target Region
Exon 2~4
Size of Effective Region
~2.9 kb
Detailed Document
Overview of Gene Research
TUBA1A, encoding tubulin alpha 1a, is crucial for microtubule assembly in neurons. Microtubules, made of α/β-tubulin dimers, drive neurite outgrowth, neuronal growth cone responses, and intracellular transport during neurodevelopment [3]. It is also involved in cell division and motility as microtubules are dynamic cytoskeletal structures [5].
In a Tuba1a loss-of-function mouse model (Tuba1aND/+), α-tubulin levels were about half of wild type in juvenile brains. Reduced TUBA1A led to less microtubule assembly in axons, causing more pausing during organelle trafficking in P0 cultured neurons. These mice developed adult-onset ataxia, indicating the importance of TUBA1A-rich microtubule tracks for mature neuron function and synapse maintenance [2]. In another study with a Tuba1a loss-of-function mutation (TUBA1A N102D), reduced TUBA1A protein levels affected axon extension and impaired formation of forebrain commissures, though neuronal migration and cortex development were mostly normal [3].
In conclusion, TUBA1A is essential for microtubule-related functions in neurons during development and in maintaining mature neuron function. Studies using gene-knockout (KO) mouse models have revealed its role in processes like axon extension, organelle trafficking, and commissure formation. Mutations in TUBA1A are associated with various neurological disorders such as tubulinopathies, lissencephaly, and spastic paraplegia with ataxia [1,3,4,5].
References:
1. Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Thiel, Christian T, Popp, Bernt. 2019. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. In Orphanet journal of rare diseases, 14, 38. doi:10.1186/s13023-019-1020-x. https://pubmed.ncbi.nlm.nih.gov/30744660/
2. Buscaglia, Georgia, Northington, Kyle R, Moore, Jeffrey K, Bates, Emily Anne. 2020. Reduced TUBA1A Tubulin Causes Defects in Trafficking and Impaired Adult Motor Behavior. In eNeuro, 7, . doi:10.1523/ENEURO.0045-20.2020. https://pubmed.ncbi.nlm.nih.gov/32184299/
3. Buscaglia, Georgia, Northington, Kyle R, Aiken, Jayne, Hoff, Katelyn J, Bates, Emily A. 2022. Bridging the Gap: The Importance of TUBA1A α-Tubulin in Forming Midline Commissures. In Frontiers in cell and developmental biology, 9, 789438. doi:10.3389/fcell.2021.789438. https://pubmed.ncbi.nlm.nih.gov/35127710/
4. Sohal, Aman P S, Montgomery, Tara, Mitra, Dipayan, Ramesh, Venkateswaran. . TUBA1A mutation-associated lissencephaly: case report and review of the literature. In Pediatric neurology, 46, 127-31. doi:10.1016/j.pediatrneurol.2011.11.017. https://pubmed.ncbi.nlm.nih.gov/22264709/
5. Zocchi, Riccardo, Bellacchio, Emanuele, Piccione, Michela, Bertini, Enrico, Sferra, Antonella. 2023. Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia. In Frontiers in cellular neuroscience, 17, 1162363. doi:10.3389/fncel.2023.1162363. https://pubmed.ncbi.nlm.nih.gov/37435044/
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