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C57BL/6JCya-Fktnem1/Cya
Common Name:
Fktn-KO
Product ID:
S-KO-18048
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Fktn-KO
Strain ID
KOCMP-246179-Fktn-B6J-VA
Gene Name
Fktn
Product ID
S-KO-18048
Gene Alias
D830030O17Rik; Fcmd
Background
C57BL/6JCya
NCBI ID
246179
Modification
Conventional knockout
Chromosome
4
Phenotype
MGI:2179507
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-Fktnem1/Cya mice (Catalog S-KO-18048) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000128667
NCBI RefSeq
NM_139309
Target Region
Exon 5
Size of Effective Region
~1.6 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Fktn, encoding fukutin, is a ribitol 5-phosphate transferase involved in the glycosylation of α-dystroglycan. This glycosylation process is crucial as α-dystroglycan plays important roles in maintaining muscle and cardiac structure and function. Mutations in Fktn can lead to dystroglycanopathy, affecting related biological pathways and contributing to the development of certain diseases [1,2].

In a study of a patient with muscular dystrophy, early-onset dilated cardiomyopathy, and elevated creatine kinase levels, compound heterozygous variants in Fktn led to a loss of fully glycosylated α-dystroglycan, resulting in cardiomyopathy and end-stage heart failure at a young age [1]. In another case, a child with elevated creatine kinase was found to have compound heterozygous variants of the Fktn gene, suggesting these variants underlay the disease and expanding the mutation spectrum of congenital muscular dystrophy [3]. Prenatal whole-exome sequencing in fetuses with congenital hydrocephalus detected compound variants in Fktn, demonstrating the genetic heterogeneity in such patients and expanding the gene mutational spectrum [4].

In conclusion, Fktn is essential for the proper glycosylation of α-dystroglycan, which is vital for muscle and cardiac function. Studies on Fktn-related mutations in patients have shown its significant contribution to diseases like dystroglycanopathy, congenital muscular dystrophy, and congenital hydrocephalus, highlighting the importance of understanding Fktn's function for disease diagnosis, genetic counseling, and potential treatment strategies.

References:
1. 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/
2. Conte, Federica, Sam, Juda-El, Lefeber, Dirk J, Passier, Robert. 2023. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms24108632. https://pubmed.ncbi.nlm.nih.gov/37239976/
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
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