C57BL/6JCya-Tubgcp5em1/Cya
Common Name:
Tubgcp5-KO
Product ID:
S-KO-06624
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Tubgcp5-KO
Strain ID
KOCMP-233276-Tubgcp5-B6J-VA
Gene Name
Product ID
S-KO-06624
Gene Alias
B130010C12Rik; GCP5; mKIAA1899
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
7
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tubgcp5em1/Cya mice (Catalog S-KO-06624) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000032627
NCBI RefSeq
NM_146190
Target Region
Exon 2~3
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
TUBGCP5, also known as tubulin gamma complex associated protein 5, is a paralog of TUBGCP4 and TUBGCP6. It is involved in centrosome formation, which is crucial for cell division and the maintenance of cell structure and function [3]. The gene is located in the 15q11.2 BP1-BP2 region, a locus associated with various neurodevelopmental disorders [3].
Individuals with the 15q11.2 BP1-BP2 microdeletion, which involves TUBGCP5 along with three other genes, may present with developmental and language delay, neurobehavioral disturbances, and psychiatric problems [1]. The TUBGCP5 gene is associated with attention-deficit hyperactivity disorder (ADHD) and compulsions, especially in Prader-Willi syndrome (PWS) patients with the larger 15q11-q13 Type I deletion [2]. A rare missense variant in TUBGCP5 was identified in a patient with primary microcephaly and mild developmental delay, suggesting its potential role in microcephaly [3]. In silico analyses showed that TUBGCP5 is associated with Prader-Willi syndrome among other neurodevelopmental disorders [4].
In conclusion, TUBGCP5 plays a significant role in centrosome formation and is implicated in multiple neurodevelopmental conditions such as ADHD, compulsions in PWS, and potentially microcephaly. Studies on TUBGCP5-related genetic variations, especially in the context of the 15q11.2 BP1-BP2 microdeletion, contribute to understanding the genetic mechanisms underlying these disorders.
References:
1. Cox, Devin M, Butler, Merlin G. 2015. The 15q11.2 BP1-BP2 microdeletion syndrome: a review. In International journal of molecular sciences, 16, 4068-82. doi:10.3390/ijms16024068. https://pubmed.ncbi.nlm.nih.gov/25689425/
2. Butler, Merlin G. 2023. Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms24054271. https://pubmed.ncbi.nlm.nih.gov/36901699/
3. Maver, Aleš, Čuturilo, Goran, Kovanda, Anja, Miletić, Aleksandra, Peterlin, Borut. 2018. Rare missense TUBGCP5 gene variant in a patient with primary microcephaly. In European journal of medical genetics, 62, 103598. doi:10.1016/j.ejmg.2018.12.003. https://pubmed.ncbi.nlm.nih.gov/30543990/
4. Rafi, Syed K, Butler, Merlin G. 2020. The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes. In International journal of molecular sciences, 21, . doi:10.3390/ijms21093296. https://pubmed.ncbi.nlm.nih.gov/32384786/
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