C57BL/6JCya-Agbl3em1flox/Cya
Common Name:
Agbl3-flox
Product ID:
S-CKO-16415
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Agbl3-flox
Strain ID
CKOCMP-76223-Agbl3-B6J-VA
Gene Name
Product ID
S-CKO-16415
Gene Alias
2900053G10Rik; 4930431N21Rik; 6530406M24Rik; CCP3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
6
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Agbl3em1flox/Cya mice (Catalog S-CKO-16415) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000115016
NCBI RefSeq
NM_001289656
Target Region
Exon 3~4
Size of Effective Region
~2.8 kb
Detailed Document
Overview of Gene Research
Agbl3, though specific aliases are not provided in the given references, likely has important functions within the body. While its exact function, associated pathways, and overall biological importance aren't detailed in the references, genetic models can be valuable for further study.
In one study, a family presented a small duplication in cis affecting AGBL3 along with CALD1. Four other patients carried larger deletions encompassing AGBL3 among other genes. All patients had neurodevelopmental delay, mild to moderate intellectual disability, dysmorphic features, and a behavioral phenotype of aggressiveness and disinhibition. This indicates AGBL3's potential role in neurodevelopment and behavior [1].
In another study, a SLC6A3-AGBL3 fusion event was detected in a meningioma tumor sample. Fusion genes in meningiomas are more likely in tumors with greater genomic instability or in patients with a history of cranial irradiation, suggesting AGBL3 might be involved in genomic stability-related processes in meningiomas [2].
In conclusion, AGBL3 seems to be associated with neurodevelopmental and behavioral aspects as well as potentially playing a role in genomic stability in meningiomas. These associations from the limited data available highlight the importance of further in-vivo studies, like gene knockout (KO) or conditional knockout (CKO) mouse models, to precisely define AGBL3's essential biological functions and its implications in related diseases.
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