C57BL/6JCya-Tmem151aem1/Cya
Common Name:
Tmem151a-KO
Product ID:
S-KO-18244
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Tmem151a-KO
Strain ID
KOCMP-381199-Tmem151a-B6J-VB
Gene Name
Product ID
S-KO-18244
Gene Alias
Gm30627; Gm961; Tmem151
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
19
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tmem151aem1/Cya mice (Catalog S-KO-18244) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000077066
NCBI RefSeq
NM_001001885
Target Region
Exon 2
Size of Effective Region
~2.7 kb
Detailed Document
Overview of Gene Research
TMEM151A, encoding transmembrane protein 151A, is located at 11q13.2. Currently, its essential function, associated pathways remain not comprehensively understood, but studies on its variants suggest its significance in human health, especially regarding movement-related functions. Genetic models could potentially aid in further elucidating its biological importance [2].
Mutations in TMEM151A have been found to cause paroxysmal kinesigenic dyskinesia (PKD), a type of paroxysmal dyskinesias. In a large-sample study, 24 heterozygous variants (18 missense and 6 nonsense mutations) were detected in 25 of 521 probands (frequency = 4.80%) [1]. Another study identified four TMEM151A variants in four unrelated families, with a monoallelic frameshift mutation potentially causing mRNA decay and suggesting haploinsufficiency as a pathogenic mechanism [2]. A novel heterozygous variant in TMEM151A was found in a family where some individuals had PKD with infantile convulsions, suggesting the gene may be associated with a disease spectrum including PKD-PKD/IC-BFIC [3]. Additionally, new TMEM151A variants were identified in PKD patients, and it was observed that compared with PRRT2-related PKD, TMEM151A-related PKD were more common in sporadic cases with a pure phenotype, and patients with TMEM151A variants had different features such as shorter-duration dystonia attacks, no history of benign infantile epilepsy, and residual attacks/aura when treated with certain medications [1,4].
In conclusion, TMEM151A is associated with paroxysmal kinesigenic dyskinesia. Studies on its variants in human patients have expanded the understanding of the genotypic spectrum of PKD. The discovery of TMEM151A-related PKD broadens the knowledge of the genetic causes of this movement disorder, and further functional studies, potentially including gene knockout or conditional knockout mouse models, are needed to enhance our understanding of the pathogenesis of TMEM151A-related PKD.
References:
1. Tian, Wo-Tu, Zhan, Fei-Xia, Liu, Zhen-Hua, Huang, Xiao-Jun, Cao, Li. 2021. TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study. In Movement disorders : official journal of the Movement Disorder Society, 37, 545-552. doi:10.1002/mds.28865. https://pubmed.ncbi.nlm.nih.gov/34820915/
2. Huang, Hua Lin, Zhang, Qing Xia, Huang, Fei, Ma, Cai Yu, Liu, Ding. 2023. TMEM151A variants associated with paroxysmal kinesigenic dyskinesia. In Human genetics, 142, 1017-1028. doi:10.1007/s00439-023-02535-3. https://pubmed.ncbi.nlm.nih.gov/36856871/
3. Wang, Huan, Huang, Pengcheng, Zhu, Min, Wu, Chensi, Hong, Daojun. 2022. TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions. In Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 43, 6095-6099. doi:10.1007/s10072-022-06208-3. https://pubmed.ncbi.nlm.nih.gov/35727387/
4. Chen, Yu-Lan, Chen, Dian-Fu, Li, Hong-Fu, Wu, Zhi-Ying. 2022. Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants. In Movement disorders : official journal of the Movement Disorder Society, 37, 608-613. doi:10.1002/mds.28939. https://pubmed.ncbi.nlm.nih.gov/35083789/
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