C57BL/6JCya-Tubgcp5em1flox/Cya
Common Name:
Tubgcp5-flox
Product ID:
S-CKO-07640
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tubgcp5-flox
Strain ID
CKOCMP-233276-Tubgcp5-B6J-VA
Gene Name
Product ID
S-CKO-07640
Gene Alias
B130010C12Rik; GCP5; mKIAA1899
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
7
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tubgcp5em1flox/Cya mice (Catalog S-CKO-07640) 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, short for tubulin gamma complex associated protein 5, is a paralog of TUBGCP4 and TUBGCP6. It is involved in centrosome formation. The gene is located in the 15q11.2 BP1-BP2 region, which is associated with various neurodevelopmental processes [3].
Individuals with Prader-Willi syndrome (PWS) having a larger 15q11-q13 Type I deletion that lacks TUBGCP5 from the 15q11.2 BP1-BP2 region are more severely affected. TUBGCP5 is associated with attention-deficit hyperactivity disorder (ADHD) and compulsions, more commonly seen in PWS with the Type I deletion [1]. The 15q11.2 BP1-BP2 microdeletion involving TUBGCP5 and other genes can lead to developmental and language delay, neurobehavioral disturbances, and psychiatric problems [2]. A rare missense variant in TUBGCP5 was found in a patient with primary microcephaly, suggesting its role in microcephaly occurrence in 15q11.2 microdeletion carriers [3].
In conclusion, TUBGCP5 plays a significant role in neurodevelopment. Its involvement in centrosome formation may underlie its impact on various neurodevelopmental processes. Research on TUBGCP5, especially through studying its deletion in syndromes like PWS and the 15q11.2 microdeletion syndrome, helps understand its role in neurodevelopmental disorders such as ADHD, microcephaly, and associated behavioral problems.
References:
1. 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/
2. 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/
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/
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