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C57BL/6JCya-Pygmem1flox/Cya
Common Name:
Pygm-flox
Product ID:
S-CKO-04641
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Pygm-flox
Strain ID
CKOCMP-19309-Pygm-B6J-VA
Gene Name
Pygm
Product ID
S-CKO-04641
Gene Alias
PG
Background
C57BL/6JCya
NCBI ID
19309
Modification
Conditional knockout
Chromosome
19
Phenotype
MGI:97830
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-Pygmem1flox/Cya mice (Catalog S-CKO-04641) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000035269
NCBI RefSeq
NM_011224
Target Region
Exon 6~11
Size of Effective Region
~2.6 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Pygm, the muscle glycogen phosphorylase gene, encodes myophosphoylase, a key enzyme in the first step of glycogenolysis, the breakdown of glycogen to release glucose-1-phosphate. This process is crucial for muscle metabolism. Genetic models, such as the zebrafish and mouse models, are valuable for studying Pygm [2,4].

Mutations in Pygm lead to autosomal-recessive McArdle disease. In McArdle disease cellular models, read-through agents like amlexanox, Ataluren, RTC13, and G418 were evaluated for their ability to overcome the Pygm p.R50X mutation, but no detectable read-through was found [1]. In zebrafish, knockdown of Pygm led to an elevated glycogen level and morphological muscle changes similar to human McArdle disease symptoms, suggesting its role in muscle structure and glycogen regulation [4]. In AD, the expression of Pygm was decreased, and its down-regulation in neurons impaired synaptic plasticity and cognition in WT mice, while overexpression attenuated synaptic dysfunction and cognitive deficits in AD mice, indicating its role in synaptic function and energy generation in neurons [3].

In conclusion, Pygm is essential for muscle glycogen breakdown and metabolism, with its dysfunction leading to McArdle disease. Studies in animal models also reveal its role in synaptic function in the context of AD. Understanding Pygm's functions through these models provides insights into the molecular mechanisms of these diseases, potentially guiding future treatment development.

References:
1. Tarrasó, Guillermo, Real-Martinez, Alberto, Parés, Marta, Krag, Thomas O, Pinós, Tomàs. 2020. Absence of p.R50X Pygm read-through in McArdle disease cellular models. In Disease models & mechanisms, 13, . doi:10.1242/dmm.043281. https://pubmed.ncbi.nlm.nih.gov/31848135/
2. Nogales-Gadea, Gisela, Brull, Astrid, Santalla, Alfredo, de Luna, Noemi, Pinós, Tomàs. 2015. McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. In Human mutation, 36, 669-78. doi:10.1002/humu.22806. https://pubmed.ncbi.nlm.nih.gov/25914343/
3. Wang, Ting, Zhou, Yun-Qiang, Wang, Yong, Wang, Zhan-Xiang, Zhang, Yun-Wu. . Long-term potentiation-based screening identifies neuronal PYGM as a synaptic plasticity regulator participating in Alzheimer's disease. In Zoological research, 44, 867-881. doi:10.24272/j.issn.2095-8137.2023.123. https://pubmed.ncbi.nlm.nih.gov/37537141/
4. Migocka-Patrzałek, Marta, Lewicka, Anna, Elias, Magdalena, Daczewska, Małgorzata. 2019. The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology. In The international journal of biochemistry & cell biology, 118, 105658. doi:10.1016/j.biocel.2019.105658. https://pubmed.ncbi.nlm.nih.gov/31747538/
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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