C57BL/6JCya-Ank3em1flox/Cya
Common Name:
Ank3-flox
Product ID:
S-CKO-01202
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Ank3-flox
Strain ID
CKOCMP-11735-Ank3-B6J-VA
Gene Name
Product ID
S-CKO-01202
Gene Alias
2900054D09Rik; Ank-3; AnkG; Ankyrin-3; Ankyrin-G
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
10
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ank3em1flox/Cya mice (Catalog S-CKO-01202) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000182884
NCBI RefSeq
NM_146005
Target Region
Exon 22~23
Size of Effective Region
~2.9 kb
Detailed Document
Overview of Gene Research
ANK3, which encodes multiple isoforms of ankyrin-G, is crucial for neuronal development and signaling [1,2]. Alternative splicing of ANK3 gives rise to different ankyrin-G isoforms with distinct expression patterns, and it is involved in various biological processes related to the nervous system [2].
In gene-related disease studies, ANK3 variants are associated with multiple neurodevelopmental phenotypes. Heterozygous missense variants are linked to autism spectrum disorder, while more severe phenotypes are caused by isoform-dependent loss-of-function variants [1]. Mono-or biallelic ANK3 variants result in non-specific syndromic intellectual disability, with biallelic variants leading to a more severe phenotype, including language delay, autism spectrum disorder, intellectual disability, and other symptoms [2]. In an Ank3 mouse model (Ank3-1b KO), deletion of a BD-associated variant leads to absence epilepsy and changes in neocortical oscillation, with abnormal sleep, hyperactivity, and repetitive behaviors accompanied by increased slow gamma power [3]. A mouse model with a missense p.W1989R mutation in Ank3 shows reduced inhibitory signaling and increased pyramidal cell excitability, mimicking BD symptoms in humans, and lithium treatment can normalize neuronal excitability [4].
In conclusion, ANK3 plays a vital role in neuronal development and signaling. Studies using gene-knockout mouse models have significantly enhanced our understanding of its role in neurodevelopmental disorders, bipolar disorder, and epilepsy, providing insights into potential therapeutic targets and pathogenic mechanisms related to these diseases.
References:
1. Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Bijlsma, Emilia K, Lessel, Davor. 2021. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. In Neurogenetics, 22, 263-269. doi:10.1007/s10048-021-00655-4. https://pubmed.ncbi.nlm.nih.gov/34218362/
2. Furia, Francesca, Levy, Amanda M, Theunis, Miel, Gardella, Elena, Tümer, Zeynep. 2024. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. In Clinical genetics, 106, 574-584. doi:10.1111/cge.14587. https://pubmed.ncbi.nlm.nih.gov/38988293/
3. Villacres, Juan E, Riveira, Nicholas, Kim, Sohmee, Noebels, Jeffrey L, Lopez, Angel Y. 2023. Abnormal patterns of sleep and waking behaviors are accompanied by neocortical oscillation disturbances in an Ank3 mouse model of epilepsy-bipolar disorder comorbidity. In Translational psychiatry, 13, 403. doi:10.1038/s41398-023-02700-2. https://pubmed.ncbi.nlm.nih.gov/38123552/
4. Caballero-Florán, René N, Nelson, Andrew D, Min, Lia, Jenkins, Paul M. 2023. Effects of chronic lithium treatment on neuronal excitability and GABAergic transmission in an Ank3 mutant mouse model. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.10.26.564203. https://pubmed.ncbi.nlm.nih.gov/37961630/
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