RediMODEL transgenics in C. elegans

STXBP1 - syntaxin binding protein

GENE DESCRIPTION:

  • Function: STXBP1 is a regulator of synaptic vesicle release allowing coordinated release of neurotransmitters into the synapse.
  • Disease: Genetic defects in STXBP1 have been found to be highly associated with infantile epileptic encephalopathy.
 

Products:

RediMODEL Kits -  a series of humanized animal models specifically engineered for easy measurement of phenotype defects caused by clinically-relevant disease mutations.   

rediMODEL-KO

STXBP1 RediMODEL KO: Generated in the C. elegans homolog unc-18 is a precision deletion allele which leads to the removal of the entire coding sequence. The unc-18 deletion knock-out (KO) results in loss of function in coordinated vesicle release. Major phenotype readout for KO line is the observation of severly uncoordinated (paralyzed) animal. The all-coding deletion mutant is currently available as gene knock-out.

 

STXBP1 RediMODEL KI: Generated in the C. elegans homolog unc-18 with human gene insertion to create a knock-in (KI) strain. Entire coding of unc-18 is replaced with wild-type STXBP1 coding sequence. An STXBP1 gene replacement is currently available for preorder as a humanized wt line.

 

STXBP1 RediMODEL CV: Generated in the C. elegans homolog unc-18 with human gene insertion containing a clinical variant allele to create a clincal variant (CV) strain. Entire coding of unc-18 is replaced with STXBP1 coding sequence containing amino-acid change polymorphism that has been observed in patient populations. Upon request, an STXBP1 line with client-specific polymorphism is made as a clinical variant allele.

 

RediMODEL knock-out in C. elegans | $845 each kit Buy Now

STXBP1 - syntaxin binding protein

DESCRIPTION:

STXBP1 is essential for neurotransmission by acting as a regulator of synaptic vesicle exocytosis through direct interactions with syntaxin SNARE protein. (other names: P67, NSEC1, UNC18, RBSEC1, MUNC18-1)

DISEASES:

Early Infantile Epileptic Encephalopathy, Myoclonic Epilepsies.*

* All disease associations scored above a 0.1 threshold from disgenet.com

Protein domain - slc6a3 dat-1.png

HOMOLOGY:

Human Gene STXBP1 Alignment         
C. elegans Gene unc-18 align
Identity 59%
Similarity 75%

KNOCK-OUT of C. elegans gene:

unc-18 is a homolog gene to STXBP1. The unc-18 gene functions to bind syntaxin and regulate synaptic vesicle release. When unc-18 is expressed and active, it allows for coordinated body movement and pharynx pumping. Deletion mutations in unc-18 cause uncoordinated locomotion as loss-of-function phenotype. The canonical allele in unc-18 is (e81), which contains a Q520x in the gene coding region and is described as a knock-out (KO) of gene function. The most easily measured phenotypes for the KO is an uncoordinated motion and decreased pharynx pumping. Because the small deletion has the potential to retain function, a precision deletion of the entire unc-18 locus is used for the knockout allele. The full deletion allele is offered as the STXBP1 RediMODEL-KO strain as a 4x outcrossed allele. The KO strain is confirmed by PCR and shipped in the RediMODEL kit format. Included in each kit is N2 wild-type strain as a reference control.


RediMODEL Kit Details:

Each kit arrives with 3 frozen tubes of STXBP1 RediMODEL-KO and 3 tubes of N2 for control and all materials needed for 2+ days of growth.

PLEASE PUT FROZEN TUBES AT -80C UPON ARRIVAL.

Authentication:

Genotype and phenotype data provides a capacity for the researcher to monitor and retain authentication, as per NIH guidelines.

Genotype data:

PCR Assay

The RediMODEL-KO line is sequence verified and followed by PCR. The gel image in Genotype Data shows the expected PCR band pattern in an agarose gel for the primer set used to validate the RediMODEL kit.



amplicon size
wild type 500 bp
STXBP1 RediMODEL-KO 900 bp
 

Phenotype data:

Bio Assay

The RediMODEL-KO line's activity is best followed by monitoring changes in neurotransmission rates of the food intake. Pharynx pumping increases and decreases are easily monitored in ScreenChip system assay (Nemametrix.com). using the Low Stimulation Pharynx Pumping Protocol (P001), a significant difference in pumping rate can be observed.

Low Stimulation Pharynx Pumping Protocol (P001)


strain wt frequency (Hz)
N2 wild type 100%
STXBP1 RediMODEL-KO 10%

Discover STXBP1 RediMODEL-KO Kit: | $845 each kit Buy Now

Discover RediMODEL-KO Kit: | $845 each kit

Order STXBP1 RediMODEL-KO

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STXBP1 rediMODEL-KO inquiry

RediMODEL knock-in of human gene replacement in C. elegans | $845 each kit Buy Now

STXBP1 - syntaxin binding protein

DESCRIPTION:

STXBP1 is essential for neurotransmission by acting as a regulator of synaptic vesicle exocytosis through direct interactions with syntaxin SNARE protein. (other names: P67, NSEC1, UNC18, RBSEC1, MUNC18-1)

DISEASES:

Early Infantile Epileptic Encephalopathy, Myoclonic Epilepsies.*

* All disease associations scored above a 0.1 threshold from disgenet.com

Protein domain - slc6a3 dat-1.png

HOMOLOGY:

Human Gene STXBP1 Alignment         
C. elegans Gene unc-18 align
Identity 59%
Similarity 75%
RediMODEL-KI logo sml.png

HUMANIZED C. elegans:

unc-18 is a homolog gene to STXBP1. The unc-18 gene functions to bind syntaxin and regulate synaptic vesicle release. When unc-18 is expressed and active, it allows for coordinated body movement and pharynx pumping. Deletion mutations in unc-18  as STXBP1 RediMODEL-KO cause a loss-of-function phenotype as loss of normal pharynx pumping. To create a humanized worm, the STXBP1 gene is swapped for the unc-18 coding segment.   Installation of STXBP1 in replacement of unc-18 causes restoration of normal pharynx pumping phenotype and is offered as STXBP1 RediMODEL-KI strain. The KI strain is confirmed by PCR and shipped in the RediMODEL kit format. Included in each kit is STXBP1 RediMODEL-KO as a reference control.


RediMODEL Kit Details:

Each kit arrives with 3 frozen tubes of STXBP1 RediMODEL-KI and 3 tubes of N2 for control and all materials needed for 2+ days of growth.

PLEASE PUT FROZEN TUBES AT -80C UPON ARRIVAL.

Authentication:

Genotype and phenotype data provides a capacity for the researcher to monitor and retain authentication, as per NIH guidelines.

Genotype data:

PCR Assay

The RediMODEL-KI line is sequence verified and followed by PCR. The gel image in Genotype Data shows the expected PCR band pattern in an agarose gel for the primer set used to verify the RediMODEL kit.

amplicon size
wild type 500 bp
STXBP1 RediMODEL-KI 900 bp
 

Phenotype data:

Bio Assay

The RediMODEL-KI line's activity is best followed by monitoring changes in neurotransmission rates of the food intake. Pharynx pumping increases and decreases are easily monitored in ScreenChip system assay (Nemametrix.com). using the Low Stimulation Pharynx Pumping Protocol (P001), a significant difference in pumping rate can be observed.

Low Stimulation Pharynx Pumping Protocol (P001)

strain wt frequency (Hz)
STXBP1 RediMODEL-KO 10%
STXBP1 RediMODEL-KI 100%

Discover STXBP1 RediMODEL-KI Kit: | $845 each kit Buy Now

Discover RediMODEL-KI Kit: | $845 each kit

Inquire on STXBP1 RediMODEL-KI

Please provide contact info and a company representative will contact you soon with preorder invoicingdetails.

STXBP1 rediMODEL-KI inquiry

RediMODEL clinical variant in C. elegans | $6695 each kit Buy Now

STXBP1 - syntaxin binding protein

DESCRIPTION:

STXBP1 is essential for neurotransmission by acting as a regulator of synaptic vesicle exocytosis through direct interactions with syntaxin SNARE protein. (other names: P67, NSEC1, UNC18, RBSEC1, MUNC18-1)

DISEASES:

Early Infantile Epileptic Encephalopathy, Myoclonic Epilepsies.*

* All disease associations scored above a 0.1 threshold from disgenet.com

Protein domain - slc6a3 dat-1.png

HOMOLOGY:

Human Gene STXBP1 Alignment         
C. elegans Gene unc-18 align
Identity 59%
Similarity 75%
rediMODEL-KO

CLINICAL VARIANT C. elegans:

unc-18 is a homolog gene to STXBP1. The unc-18 gene functions to bind syntaxin and regulate synaptic vesicle release. When unc-18 is expressed and active, it allows for coordinated body movement and pharynx pumping. Deletion mutations in unc-18 as an STXBP1 RediMODEL-KO causes a loss-of-function phenotype as loss of normal pharynx pumping. Installation of STXBP1 in replacement of unc-18 results in the STXBP1 RediMODEL-KI control strain and cause restoration of normal pharynx pumping phenotype.  A client-specified clinical variant is installed into the STXBP1 sequence of the wt-control strain.  The result is an STXBP1 RediMODEL-CV strain whose relative phenotypic consequence can be rapidly measured. The CV strain is confirmed by PCR and shipped in the RediMODEL kit format. Included in each kit are STXBP1 RediMODEL-KO and STXBP1 RediMODEL-KI as reference controls.


RediMODEL Kit Details:

Each kit arrives with 3 frozen tubes of STXBP1 RediMODEL-CV and 3 tubes of N2 for control and all materials needed for 2+ days of growth.

PLEASE PUT FROZEN TUBES AT -80C UPON ARRIVAL.

Authentication:

Genotype and phenotype data provides a capacity for the researcher to monitor and retain authentication, as per NIH guidelines.

Genotype data:

PCR Assay

The RediMODEL-CV line is sequence verified and followed by PCR. The gel image in Genotype Data shows the expected PCR band pattern in an agarose gel for the primer set used to verify the RediMODEL kit.



amplicon size
wild type 500 bp
STXBP1 RediMODEL-CV 900 bp
 

Phenotype data:

Bio Assay

The RediMODEL-CV line's activity is best followed by monitoring changes in neurotransmission rates of the food intake. Pharynx pumping increases and decreases are easily monitored in ScreenChip system assay (Nemametrix.com). using the Low Stimulation Pharynx Pumping Protocol (P001), a significant difference in pumping rate can be observed.

Low Stimulation Pharynx Pumping Protocol (P001)

strain frequency (Hz)
STXBP1 RediMODEL-KO 10%
STXBP1 RediMODEL-CV ??%
STXBP1 RediMODEL-KI 100%

Discover STXBP1 RediMODEL-CV Kit: | $6695 each kit Buy Now

Discover RediMODEL-CV Kit: | $6695 each kit

Inquire on STXBP1 RediMODEL-CV

Please provide contact info and a company representative will contact you soon with design and invoicing details.

STXBP1 rediMODEL-CV inquiry

Alignment of STXBP1 to unc-18

Alignment Length Identity Similarity Gaps
591 59% 75% 3%

Lets us know if you want to model clinical variants of STXBP1 in native unc-18 gene

RediMODEL-KI native - unc-18 with human point mutations