C57BL/6JCya-Ano3em1/Cya
Common Name:
Ano3-KO
Product ID:
S-KO-17973
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Ano3-KO
Strain ID
KOCMP-228432-Ano3-B6J-VB
Gene Name
Product ID
S-KO-17973
Gene Alias
B230324K02Rik; Tmem16c
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
2
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ano3em1/Cya mice (Catalog S-KO-17973) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000099623
NCBI RefSeq
NM_001128103
Target Region
Exon 6
Size of Effective Region
~0.1 kb
Detailed Document
Overview of Gene Research
ANO3, also known as Anoctamin-3, is a gene whose encoded protein is involved in functions related to calcium homeostasis [3]. Mutations in ANO3 are associated with autosomal dominant dystonia, particularly Dystonia-24 (DYT24), which shows phenotypic and genotypic heterogeneity [4,5].
Mutations in ANO3 have been found to cause various forms of dystonia. In different families, affected individuals present with symptoms such as tremor, painful dystonic movements, diffuse dystonic tremor, mild extrapyramidal signs, psychomotor delay, and learning difficulties [1]. Younger patients with ANO3 mutations seem to display a more severe phenotype, potentially due to variants near the scrambling domain [1]. Missense mutations in ANO3 may underlie complex disorders characterized by early psychomotor regression and dystonia [2]. In Chinese dystonia patients, several ANO3 variants have been identified, expanding the mutational and clinical spectrum of DYT24 [4,5]. However, the disease relevance of novel ANO3 variants remains difficult to interpret, and functional studies are needed [6].
In conclusion, ANO3 plays a crucial role in calcium-related functions, and its mutations are significantly associated with dystonia. The study of ANO3-related dystonia through patient-based genetic analysis helps to understand the genotype-phenotype relationships in dystonia, which may contribute to the development of better diagnostic and treatment strategies for this movement disorder.
References:
1. Percetti, Marco, Zini, Michela, Soliveri, Paola, Isaias, Ioannis Ugo, Sacilotto, Giorgio. 2024. The Clinical Spectrum of ANO3-Report of a New Family and Literature Review. In Movement disorders clinical practice, 11, 289-297. doi:10.1002/mdc3.13979. https://pubmed.ncbi.nlm.nih.gov/38284143/
2. Jiménez de Domingo, Ana, Lopez-Martín, Sara, Albert, Jacobo, Álvarez, Sara, Fernández-Jaén, Alberto. 2020. ANO3 and early-onset dyskinetic encephalopathy. In European journal of medical genetics, 63, 104085. doi:10.1016/j.ejmg.2020.104085. https://pubmed.ncbi.nlm.nih.gov/33045406/
3. Thomsen, Mirja, Lange, Lara M, Zech, Michael, Lohmann, Katja. 2023. Genetics and Pathogenesis of Dystonia. In Annual review of pathology, 19, 99-131. doi:10.1146/annurev-pathmechdis-051122-110756. https://pubmed.ncbi.nlm.nih.gov/37738511/
4. Li, Shanglin, Wang, Lin, Yang, Yingmai, Ma, Jun, Wan, Xinhua. 2020. ANO3 Mutations in Chinese Dystonia: A Genetic Screening Study Using Next-Generation Sequencing. In Frontiers in neurology, 10, 1351. doi:10.3389/fneur.2019.01351. https://pubmed.ncbi.nlm.nih.gov/32116979/
5. Jiang, Li-Ting, Li, Li-Xi, Liu, Ying, Wan, Xin-Hua, Jin, Ling-Jing. 2020. The expanding clinical and genetic spectrum of ANO3 dystonia. In Neuroscience letters, 746, 135590. doi:10.1016/j.neulet.2020.135590. https://pubmed.ncbi.nlm.nih.gov/33388357/
6. Olschewski, Luisa, Jesús, Silvia, Kim, Han-Joon, Klein, Christine, Lohmann, Katja. 2019. Role of ANO3 mutations in dystonia: A large-scale mutational screening study. In Parkinsonism & related disorders, 62, 196-200. doi:10.1016/j.parkreldis.2018.12.030. https://pubmed.ncbi.nlm.nih.gov/30712998/
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