C57BL/6JCya-Ano3em1flox/Cya
Common Name:
Ano3-flox
Product ID:
S-CKO-18578
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ano3-flox
Strain ID
CKOCMP-228432-Ano3-B6J-VB
Gene Name
Product ID
S-CKO-18578
Gene Alias
B230324K02Rik; Tmem16c
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ano3em1flox/Cya mice (Catalog S-CKO-18578) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000099623
NCBI RefSeq
NM_001128103
Target Region
Exon 6
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
ANO3, a member of the anoctamin (TMEM16) protein family, is involved in functions such as ion transport and phospholipid scrambling [5]. It has been associated with the calcium homeostasis pathway, and its malfunction may disrupt normal cellular functions [3]. Mutations in ANO3 are relevant as they can lead to various genetic diseases, highlighting its biological importance [5].
Mutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood. A study of a new ANO3 family found that a heterozygous p.G6V variant in ANO3 was identified in all affected subjects, with younger patients displaying a more severe phenotype, likely due to variants near the scrambling domain [1]. Another study described a 3-year-old girl with distal myoclonic dystonia and a de novo missense ANO3 variant, along with psychomotor regression and brain atrophy, suggesting that missense mutations in ANO3 may underlie complex disorders with early psychomotor regression and dystonia [2]. In a Chinese cohort, four different ANO3 variants were identified in dystonia patients, and a novel missense mutation in a teenaged girl with generalized dystonia was classified as "likely pathogenic" and she responded well to deep brain stimulation [4]. Overall, ANO3 mutations seem to expand the mutational and clinical spectrum of dystonia 24 (DYT24) [4].
In conclusion, ANO3 is crucial for normal cellular function through its role in ion transport and phospholipid scrambling. Studies on ANO3-related mutations, especially in the context of dystonia, have provided insights into the genotype-phenotype characteristics of the disorder. These findings contribute to understanding the pathogenesis of dystonia and may potentially lead to new 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. Pedemonte, Nicoletta, Galietta, Luis J V. . Structure and function of TMEM16 proteins (anoctamins). In Physiological reviews, 94, 419-59. doi:10.1152/physrev.00039.2011. https://pubmed.ncbi.nlm.nih.gov/24692353/
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