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C57BL/6JCya-Ank2em1flox/Cya
Common Name:
Ank2-flox
Product ID:
S-CKO-19456
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ank2-flox
Strain ID
CKOCMP-109676-Ank2-B6J-VA
Gene Name
Ank2
Product ID
S-CKO-19456
Gene Alias
100043364; Ank-2; Gm4392
Background
C57BL/6JCya
NCBI ID
109676
Modification
Conditional knockout
Chromosome
3
Phenotype
MGI:88025
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ank2em1flox/Cya mice (Catalog S-CKO-19456) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000182078
NCBI RefSeq
NM_001327939
Target Region
Exon 24
Size of Effective Region
~1.2 kb
Detailed Document
Click here to download >>
Overview of Gene Research
ANK2, encoding ankyrin-B, is a cytoskeletal scaffolding protein that recruits membrane proteins into specialized membrane domains. It is involved in multiple biological processes, with its role in neuronal development and function being of particular significance. Genetic models, such as gene knockout (KO) and conditional knockout (CKO) mouse models, are valuable tools for studying ANK2 [2,3,4].

ANK2 loss-of-function (LoF) variants in humans are associated with a broad neurodevelopmental disorder (NDD), including intellectual disability, autism spectrum disorders, and early-onset epilepsy. hiPSC-derived neurons with heterozygous LoF of ANK2 show hyperactive and desynchronized neuronal networks, increased somatodendritic structures, and impaired axon initial segment (AIS) plasticity [1]. In mouse models, prenatal deletion of Ank2 in cortical excitatory neurons and oligodendrocytes (Ank2-/-:Emx1-Cre) leads to severe spontaneous seizures, increased mortality, hyperactivity, and social deficits, along with network hyperexcitability and hypersynchrony. Quantitative proteomic analysis reveals synaptic proteome alterations [3]. Mice with Ank2 knockout restricted to cortical and hippocampal excitatory neurons (Ank2-cKO mice) display ASD-related behavioral abnormalities and juvenile seizure-related death, with increased neuronal excitability due to decreased Kv7.2/KCNQ2 and Kv7.3/KCNQ3 potassium channels in the AIS, which can be rescued by the Kv7 agonist retigabine [4].

In conclusion, ANK2 plays essential roles in neuronal development and network function. Studies using KO and CKO mouse models have significantly contributed to understanding its role in neurodevelopmental disorders, such as autism spectrum disorders and epilepsy. These findings provide insights into the molecular mechanisms underlying these diseases, which may facilitate the development of new therapeutic strategies.

References:
1. Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Willemsen, Marjolein H, Nadif Kasri, Nael. . ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. In Human molecular genetics, 32, 2373-2385. doi:10.1093/hmg/ddad081. https://pubmed.ncbi.nlm.nih.gov/37195288/
2. Kawano, Shotaro, Baba, Masayuki, Fukushima, Hotaka, Hashimoto, Hitoshi, Nakazawa, Takanobu. 2022. Autism-associated ANK2 regulates embryonic neurodevelopment. In Biochemical and biophysical research communications, 605, 45-50. doi:10.1016/j.bbrc.2022.03.058. https://pubmed.ncbi.nlm.nih.gov/35313230/
3. Yoon, Sehyoun, Santos, Marc Dos, Forrest, Marc P, Savas, Jeffrey N, Penzes, Peter. 2023. Early developmental deletion of forebrain Ank2 causes seizure-related phenotypes by reshaping the synaptic proteome. In Cell reports, 42, 112784. doi:10.1016/j.celrep.2023.112784. https://pubmed.ncbi.nlm.nih.gov/37428632/
4. Oh, Hyoseon, Lee, Suho, Oh, Yusang, Paik, Se-Bum, Kim, Eunjoon. 2023. Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice. In Nature communications, 14, 3547. doi:10.1038/s41467-023-39203-z. https://pubmed.ncbi.nlm.nih.gov/37321992/
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
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