C57BL/6JCya-Tubb1em1/Cya
Common Name
Tubb1-KO
Product ID
S-KO-16687
Backgroud
C57BL/6JCya
Strain ID
KOCMP-545486-Tubb1-B6J-VB
Status
When using this mouse strain in a publication, please cite “Tubb1-KO Mouse (Catalog S-KO-16687) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Tubb1-KO
Strain ID
KOCMP-545486-Tubb1-B6J-VB
Gene Name
Product ID
S-KO-16687
Gene Alias
M(beta)1, 2810484G07Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 2
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000016399
NCBI RefSeq
NM_001080971
Target Region
Exon 2~4
Size of Effective Region
~3.3 kb
Overview of Gene Research
TUBB1, Tubulin, Beta 1 Class VI, encodes a member of the β-tubulin protein family. It is a major component of microtubules abundant in megakaryocytes, playing crucial roles in processes like proplatelet formation and platelet shape maintenance. Microtubules are important for normal platelet morphology, and TUBB1 also seems to be involved in DNA damage response, thyroid development and migration, and thyroid hormone secretion [1,2].
In a study on a family with thrombocytopenia and myeloid malignancy, a novel TUBB1 variant (T149P) was identified. Variant TUBB1 disrupted normal microtubule assembly and impaired proplatelet formation in vitro. DNA damage response was severely attenuated by loss of TUBB1, and apoptosis after DNA damage was diminished in TUBB1-deficient cells, suggesting genome instability in affected individuals [1]. In another study, Tubb1 knockout in mice disrupted microtubule integrity in the thyroid, impairing thyroid migration and thyroid hormone secretion. TUBB1 mutations in humans also caused macroplatelets and hyperaggregation of platelets [2].
In conclusion, TUBB1 is essential for microtubule-related functions in platelets and the thyroid. Gene knockout models in mice have revealed its role in platelet formation, DNA damage response, and thyroid development. Understanding TUBB1 functions through these models helps in comprehending the mechanisms of related diseases such as inherited thrombocytopenia and thyroid dysgenesis.
References:
1. Matsumura, Takayoshi, Nakamura-Ishizu, Ayako, Takaoka, Kensuke, Osato, Motomi, Suda, Toshio. 2019. TUBB1 dysfunction in inherited thrombocytopenia causes genome instability. In British journal of haematology, 185, 888-902. doi:10.1111/bjh.15835. https://pubmed.ncbi.nlm.nih.gov/30854628/
2. Stoupa, Athanasia, Adam, Frédéric, Kariyawasam, Dulanjalee, Polak, Michel, Carré, Aurore. . TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology. In EMBO molecular medicine, 10, . doi:10.15252/emmm.201809569. https://pubmed.ncbi.nlm.nih.gov/30446499/
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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