C57BL/6JCya-Gneem1/Cya
Common Name:
Gne-KO
Product ID:
S-KO-17669
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gne-KO
Strain ID
KOCMP-50798-Gne-B6J-VA
Gene Name
Product ID
S-KO-17669
Gene Alias
2310066H07Rik; DMRV; GLCNE; IBM2; NM; Uae1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
4
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gneem1/Cya mice (Catalog S-KO-17669) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000030201
NCBI RefSeq
NM_015828
Target Region
Exon 3~4
Size of Effective Region
~5.4 kb
Detailed Document
Overview of Gene Research
Gne, encoding UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase, is a key gene in the sialic acid biosynthesis pathway. Sialic acid is essential for the proper function of protein and lipid molecules with sugar residues on their surface. Mutations in Gne are associated with GNE myopathy, an autosomal recessive muscle disease [2,3,4,5,6,7,8].
GNE myopathy is characterized by slowly progressive muscle weakness, typically starting in early adulthood with weakness and atrophy in the tibialis anterior muscles and sparing of the quadriceps muscles in the early stages. Muscle biopsies show atrophic fibers and rimmed vacuoles without inflammation. The pathophysiology likely involves aberrant sialylation due to Gne mutations [1,2,3,8]. Multiple therapeutic attempts, including sialic acid supplementation and gene therapy, are being made to address the sialic acid depletion in GNE myopathy muscle cells [4,5,7].
In conclusion, Gne is crucial for sialic acid biosynthesis. Research on GNE myopathy associated with Gne mutations has significantly advanced our understanding of the disease mechanism and potential therapeutic interventions. These studies on Gne-related myopathy contribute to the field of neuromuscular diseases, aiming to develop effective treatments for this rare disorder.
References:
1. Mullen, Jeffrey, Alrasheed, Khalid, Mozaffar, Tahseen. 2022. GNE myopathy: History, etiology, and treatment trials. In Frontiers in neurology, 13, 1002310. doi:10.3389/fneur.2022.1002310. https://pubmed.ncbi.nlm.nih.gov/36330422/
2. Urtizberea, J Andoni, Béhin, Anthony. 2015. [GNE myopathy]. In Medecine sciences : M/S, 31 Spec No 3, 20-7. doi:10.1051/medsci/201531s306. https://pubmed.ncbi.nlm.nih.gov/26546927/
3. Carrillo, Nuria, Malicdan, May C, Huizing, Marjan. . GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges. In Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 15, 900-914. doi:10.1007/s13311-018-0671-y. https://pubmed.ncbi.nlm.nih.gov/30338442/
4. Yoshioka, Wakako, Nishino, Ichizo, Noguchi, Satoru. 2022. Recent advances in establishing a cure for GNE myopathy. In Current opinion in neurology, 35, 629-636. doi:10.1097/WCO.0000000000001090. https://pubmed.ncbi.nlm.nih.gov/35959526/
5. Pogoryelova, Oksana, González Coraspe, José Andrés, Nikolenko, Nikoletta, Lochmüller, Hanns, Roos, Andreas. 2018. GNE myopathy: from clinics and genetics to pathology and research strategies. In Orphanet journal of rare diseases, 13, 70. doi:10.1186/s13023-018-0802-x. https://pubmed.ncbi.nlm.nih.gov/29720219/
6. Celeste, Frank V, Vilboux, Thierry, Ciccone, Carla, Carrillo-Carrasco, Nuria, Huizing, Marjan. . Mutation update for GNE gene variants associated with GNE myopathy. In Human mutation, 35, 915-26. doi:10.1002/humu.22583. https://pubmed.ncbi.nlm.nih.gov/24796702/
7. Mashangva, Fluencephila, Singh, Shagun, Oswalia, Jyoti, Arya, Ranjana. . Understanding pathophysiology of GNE myopathy and current progress towards drug development. In Journal of biosciences, 49, . doi:. https://pubmed.ncbi.nlm.nih.gov/38383974/
8. Nishino, Ichizo, Carrillo-Carrasco, Nuria, Argov, Zohar. 2014. GNE myopathy: current update and future therapy. In Journal of neurology, neurosurgery, and psychiatry, 86, 385-92. doi:10.1136/jnnp-2013-307051. https://pubmed.ncbi.nlm.nih.gov/25002140/
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