C57BL/6JCya-Fktnem1flox/Cya
Common Name:
Fktn-flox
Product ID:
S-CKO-08723
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Fktn-flox
Strain ID
CKOCMP-246179-Fktn-B6J-VA
Gene Name
Product ID
S-CKO-08723
Gene Alias
D830030O17Rik; Fcmd
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Fktnem1flox/Cya mice (Catalog S-CKO-08723) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000128667
NCBI RefSeq
NM_139309
Target Region
Exon 5
Size of Effective Region
~0.8 kb
Detailed Document
Overview of Gene Research
Fktn, encoding fukutin, is a ribitol 5-phosphate transferase involved in the glycosylation of α-dystroglycan [2]. The glycosylation process is crucial as it impacts the function of α-dystroglycan, which is related to muscle and cardiac functions. Mutations in Fktn can lead to dystroglycanopathy, a group of syndromes with a broad clinical spectrum including dilated cardiomyopathy and muscular dystrophy [2].
In a study of Chinese patients with dystroglycanopathy, mutations in FKTN were among the identified mutations in this group of patients, although less prevalent compared to some other genes like FKRP [1]. In another case report, compound heterozygous mutations in FKTN led to a loss of fully glycosylated α-dystroglycan, resulting in cardiomyopathy and end-stage heart failure at a young age [2]. Also, in a child with congenital muscular dystrophy, compound heterozygous variants of the FKTN gene were found, suggesting these variants underlay the disease [3]. Prenatal whole-exome sequencing detected compound variants in FKTN in fetuses with congenital hydrocephalus, demonstrating the genetic heterogeneity in such patients [4].
In conclusion, Fktn is essential for the glycosylation of α-dystroglycan, and its malfunction due to mutations can lead to various disorders, mainly muscular dystrophy and cardiomyopathy. The study of Fktn through case reports and patient-based genetic analysis helps to understand the molecular mechanisms underlying these diseases, providing insights for potential diagnosis and treatment strategies.
References:
1. Song, Danyu, Dai, Yi, Chen, Xiaoyu, Toda, Tatsushi, Xiong, Hui. 2021. Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. In Clinical genetics, 99, 384-395. doi:10.1111/cge.13886. https://pubmed.ncbi.nlm.nih.gov/33200426/
2. Gaertner, Anna, Burr, Lidia, Klauke, Baerbel, Gummert, Jan, Milting, Hendrik. 2022. Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern. In International journal of molecular sciences, 23, . doi:10.3390/ijms23126685. https://pubmed.ncbi.nlm.nih.gov/35743126/
3. Zhang, Yuxin, Xia, Yanjie, Wu, Qinghua, Kong, Xiangdong, Sheng, Guangyao. . [Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39, 722-726. doi:10.3760/cma.j.cn511374-20210207-00119. https://pubmed.ncbi.nlm.nih.gov/35810429/
4. Li, Meng, Fu, Huayu, Li, Jiao, Zhang, Qiang, Fei, Dongmei. 2022. Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. In The journal of obstetrics and gynaecology research, 48, 2624-2629. doi:10.1111/jog.15358. https://pubmed.ncbi.nlm.nih.gov/35843586/
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