C57BL/6JCya-Gneem1flox/Cya
Common Name:
Gne-flox
Product ID:
S-CKO-17963
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Gne-flox
Strain ID
CKOCMP-50798-Gne-B6J-VB
Gene Name
Product ID
S-CKO-17963
Gene Alias
2310066H07Rik; DMRV; GLCNE; IBM2; NM; Uae1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gneem1flox/Cya mice (Catalog S-CKO-17963) 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, also known as UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase, is a gene encoding a rate-limiting, bifunctional enzyme in the sialic acid biosynthesis pathway. Sialic acid is a monosaccharide essential for the efficient functioning of other protein or lipid molecules with sugar residues on their surface [2,3,6,7].
Gne myopathy, an autosomal recessive muscle disease, is caused by biallelic mutations in the GNE gene [1,2,3,4,5,7]. The pathophysiology of the disease is not fully understood, but hyposialylation of muscle glycans is thought to be crucial [3]. In affected patients, there is slowly progressive muscle weakness starting in early adulthood, initially in the tibialis anterior muscles, with slow progression over time and relative sparing of the quadriceps muscles [1,2,3]. Muscle biopsies show atrophic fibers and rimmed vacuoles without inflammation [1].
In conclusion, Gne plays a vital role in sialic acid biosynthesis, and its malfunction due to mutations is associated with Gne myopathy. Understanding Gne through the study of this disease helps in uncovering the importance of sialic acid in muscle function and may potentially lead to novel therapeutic strategies for this rare muscle disorder [1-9].
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. 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