C57BL/6JCya-Pignem1/Cya
Common Name:
Pign-KO
Product ID:
S-KO-18591
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Pign-KO
Strain ID
KOCMP-27392-Pign-B6J-VB
Gene Name
Product ID
S-KO-18591
Gene Alias
Gm20308; PIG-N
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
1
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pignem1/Cya mice (Catalog S-KO-18591) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000186485
NCBI RefSeq
NM_013784
Target Region
Exon 5~6
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
PIGN, Phosphatidylinositol glycan anchor biosynthesis class N, is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis in the endoplasmic reticulum, which is crucial for the proper functioning of many cell-surface proteins. It also has a non-canonical function in preventing protein aggregation in the endoplasmic reticulum independently of GPI-anchor biosynthesis [4].
Mutations in PIGN are associated with multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1), Fryns syndrome, and various neurologic phenotypes. Patients with biallelic PIGN variants often present with epilepsy, developmental delay, and hypotonia. For instance, 26 patients with biallelic PIGN variants had a wide spectrum of epilepsy phenotypes, and most had profound to severe developmental impairment [1]. In another case, a 16-year-old girl with a compound heterozygous variant in PIGN had epilepsy, developmental delay, and cerebellar atrophy [2]. Also, three individuals from two Lithuanian families with PIGN genotypes consistent with MCAHS1 showed a range of phenotypic features [3].
In conclusion, PIGN is essential for GPI-anchor biosynthesis and protein quality control in the endoplasmic reticulum. Research on PIGN-related genetic mutations in patients has revealed its significant role in multiple congenital anomaly-seizure-related syndromes and various neurologic conditions. Understanding PIGN's functions through these patient-based genetic studies provides insights into the molecular mechanisms underlying these diseases, potentially guiding future diagnostic and therapeutic strategies.
References:
1. Bayat, Allan, de Valles-Ibáñez, Guillem, Pendziwiat, Manuela, Møller, Rikke S, Sadleir, Lynette G. 2022. PIGN encephalopathy: Characterizing the epileptology. In Epilepsia, 63, 974-991. doi:10.1111/epi.17173. https://pubmed.ncbi.nlm.nih.gov/35179230/
2. Hou, Fei, Shan, Shan, Jin, Hua. . PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report. In World journal of clinical cases, 10, 5441-5445. doi:10.12998/wjcc.v10.i16.5441. https://pubmed.ncbi.nlm.nih.gov/35812661/
3. Siavrienė, Evelina, Maldžienė, Živilė, Mikštienė, Violeta, Utkus, Algirdas, Preikšaitienė, Eglė. 2022. PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation. In Medicina (Kaunas, Lithuania), 58, . doi:10.3390/medicina58111526. https://pubmed.ncbi.nlm.nih.gov/36363484/
4. Ihara, Shinji, Nakayama, Sohei, Murakami, Yoshiko, Kinoshita, Taroh, Sawa, Hitoshi. 2016. PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis. In Journal of cell science, 130, 602-613. doi:10.1242/jcs.196717. https://pubmed.ncbi.nlm.nih.gov/27980068/
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