C57BL/6JCya-Gnptabem1flox/Cya
Common Name:
Gnptab-flox
Product ID:
S-CKO-11218
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Gnptab-flox
Strain ID
CKOCMP-432486-Gnptab-B6J-VA
Gene Name
Product ID
S-CKO-11218
Gene Alias
EG432486
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
10
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gnptabem1flox/Cya mice (Catalog S-CKO-11218) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000020251
NCBI RefSeq
NM_001004164
Target Region
Exon 2
Size of Effective Region
~1.9 kb
Detailed Document
Overview of Gene Research
Gnptab, encoding the α/β -subunit precursor of GlcNAc-1-phosphotransferase, is crucial for the targeting of catabolic enzymes to lysosomes through mannose-6-phosphate modification. This process is part of the lysosomal enzyme trafficking pathway, which is essential for normal cellular function and catabolism of various substances [2,3,4,5].
Engineering human stuttering-associated mutations into the mouse Gnptab gene led to vocalization deficits similar to human stuttering, along with astrocyte pathology in the corpus callosum. Only astrocyte-specific Gnptab-deficient mice displayed a similar vocalization deficit, suggesting that the vocalization defects in these mice are due to astrocyte abnormalities [1]. In addition, pathogenic variants in Gnptab cause mucolipidosis (ML) II and MLIII alpha/beta, and in patients with GNPTAB-associated MLIII alpha/beta, bone remodeling is impaired with increased bone resorption [3]. A nonsense variant in Gnptab causes feline mucolipidosis II, and missense mutations in Gnptab lead to loss of GlcNAc-1-phosphotransferase activity in human MLII patients [4,5].
In conclusion, Gnptab is essential for lysosomal enzyme trafficking. Mouse models with Gnptab mutations have revealed its role in vocalization through astrocyte-related mechanisms and in bone remodeling in mucolipidosis. These model-based studies contribute to understanding the pathophysiology of stuttering and mucolipidosis, providing insights for potential therapeutic approaches.
References:
1. Han, Tae-Un, Root, Jessica, Reyes, Laura D, Barnes, Terra D, Drayna, Dennis. 2019. Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum. In Proceedings of the National Academy of Sciences of the United States of America, 116, 17515-17524. doi:10.1073/pnas.1901480116. https://pubmed.ncbi.nlm.nih.gov/31405983/
2. Pechincha, Catarina, Groessl, Sven, Kalis, Robert, Zuber, Johannes, Palm, Wilhelm. 2022. Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins. In Science (New York, N.Y.), 378, eabn5637. doi:10.1126/science.abn5637. https://pubmed.ncbi.nlm.nih.gov/36074822/
3. Di Lorenzo, Giorgia, Westermann, Lena M, Yorgan, Timur A, Schinke, Thorsten, Pohl, Sandra. 2021. Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III. In Genetics in medicine : official journal of the American College of Medical Genetics, 23, 2369-2377. doi:10.1038/s41436-021-01285-9. https://pubmed.ncbi.nlm.nih.gov/34341521/
4. Wang, Ping, Mazrier, Hamutal, Caverly Rae, Jessica, Raj, Karthik, Giger, Urs. 2018. A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease). In BMC veterinary research, 14, 416. doi:10.1186/s12917-018-1728-1. https://pubmed.ncbi.nlm.nih.gov/30591066/
5. Ludwig, Nataniel Floriano, Velho, Renata Voltolini, Sperb-Ludwig, Fernanda, Pohl, Sandra, Schwartz, Ida Vanessa D. 2017. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. In The international journal of biochemistry & cell biology, 92, 90-94. doi:10.1016/j.biocel.2017.09.006. https://pubmed.ncbi.nlm.nih.gov/28918368/
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