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C57BL/6JCya-Stx16em1flox/Cya
Common Name:
Stx16-flox
Product ID:
S-CKO-07218
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Stx16-flox
Strain ID
CKOCMP-228960-Stx16-B6J-VA
Gene Name
Stx16
Product ID
S-CKO-07218
Gene Alias
4930401D03; 5430410K23Rik; 6330500A18Rik; Syn16
Background
C57BL/6JCya
NCBI ID
228960
Modification
Conditional knockout
Chromosome
2
Phenotype
MGI:1923396
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Stx16em1flox/Cya mice (Catalog S-CKO-07218) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000044638
NCBI RefSeq
NM_001102423
Target Region
Exon 4~5
Size of Effective Region
~1.6 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Stx16, short for syntaxin-16, is a gene with its function potentially related to the processes occurring at the GNAS locus. The GNAS locus is crucial as it encodes the alpha-subunit of the stimulatory G protein (Gsα) and its splice variants, and is involved in parent-specific methylation changes at several differentially methylated regions (DMRs) [1].

Mutations in Stx16 are significantly associated with pseudohypoparathyroidism (PHP), especially autosomal dominant PHP type Ib (AD-PHP1B). Maternally inherited STX16 deletions, such as the commonly observed exon 2-6 deletion, cause loss of methylation at GNAS exon A/B, reducing Gsα expression and leading to PTH-resistant hypocalcemia, hyperphosphatemia, and possible resistance to other hormones [1,2,3,4,5,6]. In a 39-year-old male PHP1B patient, a half-reduced copy number of STX16 exon 5-7 was detected along with loss of methylation at GNAS exon A/B [2]. Also, early identification of STX16 deletion-causing variants in children of affected or unaffected female carriers can help prevent hypocalcemia and associated complications as PTH levels increase several years before overt hypocalcemia develops [3].

In conclusion, Stx16 is closely linked to the development of AD-PHP1B through its impact on GNAS locus methylation and Gsα expression. Understanding the role of Stx16 in this disease through genetic analysis of patients helps in early diagnosis and treatment planning for preventing hypocalcemia and related sequelae.

References:
1. Jüppner, Harald. . Molecular Definition of Pseudohypoparathyroidism Variants. In The Journal of clinical endocrinology and metabolism, 106, 1541-1552. doi:10.1210/clinem/dgab060. https://pubmed.ncbi.nlm.nih.gov/33529330/
2. Chen, Li, Yang, Chuanbin, Zhang, Xiaoxiao, Yue, Xiaofang, Yang, Jiajun. 2024. STX16 exon 5-7 deletion in a patient with pseudohypoparathyroidism type 1B. In Journal of pediatric endocrinology & metabolism : JPEM, 37, 734-740. doi:10.1515/jpem-2023-0562. https://pubmed.ncbi.nlm.nih.gov/39026465/
3. Kiuchi, Zentaro, Reyes, Monica, Hanna, Patrick, Tebben, Peter, Jüppner, Harald. . Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions. In The Journal of clinical endocrinology and metabolism, 107, e681-e687. doi:10.1210/clinem/dgab660. https://pubmed.ncbi.nlm.nih.gov/34477200/
4. Kostopoulos, Georgios, Tzikos, Georgios, Sortsis, Alexandros, Toulis, Konstantinos. 2022. Autosomal dominant pseudohypoparathyroidism type 1b due to STX16 deletion: a case presentation and literature review. In Minerva endocrinology, 49, 217-225. doi:10.23736/S2724-6507.20.03233-2. https://pubmed.ncbi.nlm.nih.gov/35119251/
5. Yang, Yi, Chu, Xueying, Nie, Min, Xing, Xiaoping, Wang, Ou. 2020. A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the GNAS locus discovered in a patient with autosomal-dominant pseudohypoparathyroidism type 1B. In Endocrine, 69, 212-219. doi:10.1007/s12020-020-02304-6. https://pubmed.ncbi.nlm.nih.gov/32337648/
6. Turan, Serap, Ignatius, Jaakko, Moilanen, Jukka S, Bastepe, Murat, Jüppner, Harald. 2012. De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. In The Journal of clinical endocrinology and metabolism, 97, E2314-9. doi:10.1210/jc.2012-2920. https://pubmed.ncbi.nlm.nih.gov/23087324/
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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