C57BL/6JCya-Agbl3em1/Cya
Common Name:
Agbl3-KO
Product ID:
S-KO-14811
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Agbl3-KO
Strain ID
KOCMP-76223-Agbl3-B6J-VA
Gene Name
Product ID
S-KO-14811
Gene Alias
2900053G10Rik; 4930431N21Rik; 6530406M24Rik; CCP3
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
6
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Agbl3em1/Cya mice (Catalog S-KO-14811) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000115016
NCBI RefSeq
NM_001289656
Target Region
Exon 3~4
Size of Effective Region
~2.6 kb
Detailed Document
Overview of Gene Research
Agbl3, with no common aliases mentioned in the provided references, likely has functions yet to be fully elucidated. Given its association with regions involved in neurodevelopment, it may play a role in related biological processes. However, its exact associated pathways and overall biological importance need further exploration through genetic models [1].
In one study, a small duplication in cis affecting AGBL3 and CALD1 genes, and larger deletions encompassing AGBL3 along with other genes (EXOC4, CALD1, CNOT4) in 7q33 were found in patients with neurodevelopmental delay, mild to moderate intellectual disability, dysmorphic features, and a behavioral phenotype of aggressiveness and disinhibition. This indicates that alterations in AGBL3, among other genes in this region, may contribute to these neurodevelopmental and behavioral conditions [1].
In another study, a fusion event SLC6A3-AGBL3 was detected in meningioma, an aggressive form of the tumor, suggesting a potential role of AGBL3 in the development of this disease [2].
In conclusion, while the full range of biological functions of Agbl3 is still being explored, studies have associated it with neurodevelopmental delay, intellectual disability, and behavioral phenotypes as well as with aggressive meningioma. Further in vivo studies using gene knockout (KO) or conditional knockout (CKO) mouse models could help clarify the specific role of Agbl3 in these disease areas.
References:
1. Lopes, Fátima, Torres, Fátima, Lynch, Sally Ann, Fortuna, Ana Maria, Maciel, Patrícia. 2017. The contribution of 7q33 copy number variations for intellectual disability. In Neurogenetics, 19, 27-40. doi:10.1007/s10048-017-0533-5. https://pubmed.ncbi.nlm.nih.gov/29260337/
2. Khan, A Basit, Gadot, Ron, Shetty, Arya, Klisch, Tiemo J, Patel, Akash J. 2020. Identification of novel fusion transcripts in meningioma. In Journal of neuro-oncology, 149, 219-230. doi:10.1007/s11060-020-03599-1. https://pubmed.ncbi.nlm.nih.gov/32949309/
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