C57BL/6JCya-Piggem1flox/Cya
Common Name:
Pigg-flox
Product ID:
S-CKO-11278
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Pigg-flox
Strain ID
CKOCMP-433931-Pigg-B6J-VA
Gene Name
Product ID
S-CKO-11278
Gene Alias
Gpi7
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Piggem1flox/Cya mice (Catalog S-CKO-11278) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000031189
NCBI RefSeq
NM_001081234
Target Region
Exon 4~5
Size of Effective Region
~1.9 kb
Detailed Document
Overview of Gene Research
PIGG, Phosphatidylinositol Glycan Anchor Biosynthesis, class G, is an ethanolamine phosphate transferase. It catalyzes the modification of glycosylphosphatidylinositol (GPI), which serves as an anchor on the cell membrane for GPI-anchored proteins (GPI-APs). The GPI-anchor biosynthesis pathway in which PIGG is involved is crucial for the proper localization and function of numerous cell-surface proteins [1,2].
Pathogenic variants in PIGG have been found to cause inherited GPI deficiency (IGD). In in vitro studies using a PIGG/PIGO double knockout system, enzymatic activity defects for PIGG variants were demonstrated [1]. Patients with biallelic PIGG variants show a range of phenotypes. Those with null or severely decreased PIGG activity present with classic IGD symptoms like hypotonia, intellectual disability/developmental delay, seizures, along with cerebellar atrophy, various neurological manifestations, and mitochondrial dysfunction [1]. Patients with mildly decreased activity show autism spectrum disorder [1]. Additionally, recessive variants in PIGG can cause a motor neuropathy with variable conduction block, childhood tremor, and febrile seizures [3]. PIGG has also been associated with the Emm blood group system, as rare PIGG deficiencies are linked to the Emm-phenotype [2].
In conclusion, PIGG is essential for GPI-anchor biosynthesis, and its proper function is crucial for normal cellular processes. Studies, especially those using gene knockout-like models in vitro, have revealed its role in various disease conditions such as IGD, motor neuropathy, and potentially in the context of the Emm blood group system. Understanding PIGG's function provides insights into the pathogenesis of these associated disorders.
References:
1. Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Campeau, Philippe M, Murakami, Yoshiko. 2021. PIGG variant pathogenicity assessment reveals characteristic features within 19 families. In Genetics in medicine : official journal of the American College of Medical Genetics, 23, 1873-1881. doi:10.1038/s41436-021-01215-9. https://pubmed.ncbi.nlm.nih.gov/34113002/
2. Lane, William J, Aeschlimann, Judith, Vege, Sunitha, Joshi, Sanmukh R, Westhoff, Connie M. 2021. PIGG defines the Emm blood group system. In Scientific reports, 11, 18545. doi:10.1038/s41598-021-98090-w. https://pubmed.ncbi.nlm.nih.gov/34535746/
3. Record, Christopher J, O'Connor, Antoinette, Verbeek, Nienke E, Murphy, Sinéad M, Reilly, Mary M. 2024. Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype. In Annals of neurology, 97, 388-396. doi:10.1002/ana.27113. https://pubmed.ncbi.nlm.nih.gov/39444079/
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