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C57BL/6JCya-Sptbn5em1/Cya
Common Name:
Sptbn5-KO
Product ID:
S-KO-18333
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Sptbn5-KO
Strain ID
KOCMP-640524-Sptbn5-B6J-VB
Gene Name
Sptbn5
Product ID
S-KO-18333
Gene Alias
EG640524; Gm354; Spnb5
Background
C57BL/6JCya
NCBI ID
640524
Modification
Conventional knockout
Chromosome
2
Phenotype
MGI:2685200
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-Sptbn5em1/Cya mice (Catalog S-KO-18333) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000156159
NCBI RefSeq
NM_001370938
Target Region
Exon 3~65
Size of Effective Region
~38.9 kb
Detailed Document
Click here to download >>
Overview of Gene Research
SPTBN5, encoding the βV -spectrin protein, is a gene of significance in the context of cytoskeletons. Spectrins, including those encoded by SPTBN5, are components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, enabling proper localization of essential membrane proteins, signal transduction, and cellular scaffolding [2].

Whole exome sequencing has associated SPTBN5 gene variants (such as c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, etc.) with neurodevelopmental phenotypes. Patients with these variants have intellectual disability (mild to severe), aggressive tendencies, along with variable features like craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux [1]. In addition, rare SPTBN5 variants were identified in a patient with ROHHADNET syndrome, though the link requires further investigation [3]. Also, rare missense variants in SPTBN5 were detected in infants with sacral agenesis, suggesting a possible association with this condition [4].

In conclusion, SPTBN5 plays a crucial role in neurodevelopment as indicated by the phenotypes associated with its gene variants. The identification of SPTBN5 variants in patients with various disorders like intellectual disability-related syndromes, ROHHADNET syndrome, and sacral agenesis, contributes to understanding the gene's role in these disease conditions, potentially paving the way for further research into underlying mechanisms and therapeutic strategies.

References:
1. Khan, Amjad, Bruno, Lucia Pia, Alomar, Fadhel, Ariani, Francesca, Khan, Shahid Niaz. 2022. SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures. In Frontiers in molecular neuroscience, 15, 877258. doi:10.3389/fnmol.2022.877258. https://pubmed.ncbi.nlm.nih.gov/35782384/
2. Rosenfeld, Jill A, Xiao, Rui, Bekheirnia, Mir Reza, Posey, Jennifer E, Lee, Brendan H. 2021. Heterozygous variants in SPTBN1 cause intellectual disability and autism. In American journal of medical genetics. Part A, 185, 2037-2045. doi:10.1002/ajmg.a.62201. https://pubmed.ncbi.nlm.nih.gov/33847457/
3. Lee, Jiwon M, Shin, Jaewon, Kim, Sol, Lee, Keum Hwa, Shin, Jae Il. 2018. Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review. In BioMed research international, 2018, 1250721. doi:10.1155/2018/1250721. https://pubmed.ncbi.nlm.nih.gov/30584530/
4. Pitsava, Georgia, Feldkamp, Marcia L, Pankratz, Nathan, Romitti, Paul A, Mills, James L. 2022. Exome sequencing identifies variants in infants with sacral agenesis. In Birth defects research, 114, 215-227. doi:10.1002/bdr2.1987. https://pubmed.ncbi.nlm.nih.gov/35274497/
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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