C57BL/6JCya-Gtpbp2em1flox/Cya
Common Name:
Gtpbp2-flox
Product ID:
S-CKO-11934
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gtpbp2-flox
Strain ID
CKOCMP-56055-Gtpbp2-B6J-VA
Gene Name
Product ID
S-CKO-11934
Gene Alias
nmf205
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gtpbp2em1flox/Cya mice (Catalog S-CKO-11934) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000024748
NCBI RefSeq
NM_019581
Target Region
Exon 3~9
Size of Effective Region
~3.0 kb
Detailed Document
Overview of Gene Research
Gtpbp2, a member of the G protein superfamily, encodes a guanosine triphosphate (GTP)-binding protein. It is involved in ribosomal homeostasis [2]. Gtpbp2 also participates in several signaling pathways, such as BMP and Wnt signaling, which are crucial for embryonic development. In Xenopus embryos, it is required for BMP signaling and mesoderm patterning, and is a positive regulator of Wnt signaling, maintaining low levels of the Wnt negative regulator Axin [3,5].
Biallelic loss-of-function variants in Gtpbp2 are associated with a neuro-ectodermal clinical presentation. Key features include prenatal onset microcephaly, tone and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation [1]. Some aspects of the clinical presentation seem age-related, like brain iron accumulation appearing after childhood [1]. In a canine model, a homozygous in-frame deletion in Gtpbp2 causes non-syndromic progressive retinal atrophy [6]. In humans, mutations in Gtpbp2 lead to rare genetic diseases such as Jaberi-Elahi syndrome, characterized by intellectual disability, motor development delay, abnormal reflexes, skeletal abnormalities, and visual impairment [4].
In conclusion, Gtpbp2 is essential for ribosomal homeostasis and plays a vital role in multiple signaling pathways during development. Its loss-of-function variants are associated with various neuro-ectodermal and neurodegenerative disorders, highlighting its significance in understanding the mechanisms of these diseases.
References:
1. Carter, Melissa T, Venkateswaran, Sunita, Shapira-Zaltsberg, Gali, Kernohan, Kristin D, Boycott, Kym M. 2019. Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature. In Clinical genetics, 95, 601-606. doi:10.1111/cge.13523. https://pubmed.ncbi.nlm.nih.gov/30790272/
2. Salpietro, Vincenzo, Maroofian, Reza, Zaki, Maha S, Jepson, James E C, Houlden, Henry. 2023. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. In American journal of human genetics, 111, 200-210. doi:10.1016/j.ajhg.2023.11.012. https://pubmed.ncbi.nlm.nih.gov/38118446/
3. Kirmizitas, Arif, Gillis, William Q, Zhu, Haitao, Thomsen, Gerald H. 2014. Gtpbp2 is required for BMP signaling and mesoderm patterning in Xenopus embryos. In Developmental biology, 392, 358-67. doi:10.1016/j.ydbio.2014.05.008. https://pubmed.ncbi.nlm.nih.gov/24858484/
4. Manoochehri, Jamal, Shiri, Amirmasoud, Khoddam, Somayeh, Dianatpour, Mehdi, Tabei, Seyed Mohammad Bagher. 2024. Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review. In European journal of medical genetics, 70, 104953. doi:10.1016/j.ejmg.2024.104953. https://pubmed.ncbi.nlm.nih.gov/38852771/
5. Gillis, William Q, Kirmizitas, Arif, Iwasaki, Yasuno, Wyrick, Jonathan M, Thomsen, Gerald H. 2016. Gtpbp2 is a positive regulator of Wnt signaling and maintains low levels of the Wnt negative regulator Axin. In Cell communication and signaling : CCS, 14, 15. doi:10.1186/s12964-016-0138-x. https://pubmed.ncbi.nlm.nih.gov/27484226/
6. Murgiano, Leonardo, Niggel, Jessica K, Akyürek, Eylem Emek, Sacchetto, Roberta, Aguirre, Gustavo D. 2025. GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy. In Scientific reports, 15, 6079. doi:10.1038/s41598-025-89446-7. https://pubmed.ncbi.nlm.nih.gov/39971978/
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