RediMODEL transgenics in C. elegans

PSEN1 - presenilin

GENE DESCRIPTION:

  • Function: PSEN1 is one of the four core proteins in the gamma secretase complex.
  • Disease: Genetic defects in PSEN1 have been found to be highly associated with Alzheimer's Disease.
 

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

PSEN1 RediMODEL KO: Generated in the C. elegans homolog sel-12 with a majority of the coding sequence deleted to create a knock-out (KO) strain. Loss of function from sel-12 deletion leads to an egg-laying defective phenotype. The most prevalent readout is the observation of a "bag of worms" phenotype in adult animals. A 4x outcrossed version currently available for preorder as gene knock-out.

 

PSEN1 RediMODEL KI: Generated in the C. elegans homolog sel-12 with human gene insertion to create a knock-in (KI) strain. Entire coding of sel-12 is replaced with wild-type PSEN1 coding sequence. A PSEN1 gene replacement is available for preorder as a humanized wt line.

 

PSEN1 RediMODEL CV: Generated in the C. elegans homolog sel-12 with human gene insertion containing a clinical variant allele to create a clinical-variant (CV) strain. Entire coding of sel-12 is replaced with PSEN1 coding sequence containing an amino-acid change polymorphism that has been observed in patient populations. Upon request, a PSEN1 line with client-specific polymorphism is made as a clinical variant allele.

 

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

PSEN1 - presinilin

DESCRIPTION:

PSEN1 is one of the four core proteins in the gamma secretase complex involved in amyloid precursor protein cleavage which is thought to cause Alzheimer's by amyloid plaque formation in neurons. (other names: AD3, FAD, PS1, PS-1, S182)

DISEASES:

Carcinoma, Autistic Disorder, Acute Megakaryocytic Leukemias, Adenocarcinoma, Adenoid Cystic Carcinoma, Anisometropia, Asthma, Bannayan-Riley-Ruvalcaba Syndrome, Craniofacial Abnormalities, Dermatologic Disorders, Developmental Disabilities, Disease Progression, Dysplastic Gangliocytoma, Endometrial Carcinoma, Endometrial Hyperplasia, Endometrial Neoplasms, Familial meningioma, Focular Thyroid Cancer, Glioma, Hemangioma, Hereditary Breast and Ovarian Cancer, Hypertensive disease, IGA Glomerulonephritis, Insulin Resistance, Intellectual Disability, Juvenile Polyposis Syndrome, Language Development Disorders, Leopard Syndrome, Leukemia, Lhermitte-Duclos disease, Lipoma, Lipomatosis, Long QT Syndrome, Lung Neoplasms, Lymphoma, Malignant Neoplasm of Prostate, Mammary Neoplasms, Mediastinal Germ Cell Tumor, Melanoma, Meningioma, Motor Skills Disorders, Multiple Hamartoma Syndrome, Myocardial Reperfusion Injury, Nasopharyngeal Carcinoma, Neoplasm Invasiveness, Neoplasm Metastasis, Ovarian Neoplasm, Pancreatic Neoplasm, Polydactyly, Prostatic Neoplasms, Proteus Syndrome, PTEN Hamartoma Tumor Syndrome, Renal Cell Carcinoma, Reperfusion Injury, Sezary Syndrome, Small Cell Carcinoma of Lung, Squamous Cell Carcinoma.*

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

Protein domain - slc6a3 dat-1.png

HOMOLOGY:

Human Gene PSEN1 Alignment         
C. elegans Gene sel-12 align
Identity 51%
Similarity 68%

KNOCK OUT of C. elegans gene

sel-12 is a homologous gene to PSEN1. The sel-12 gene functions to control notch signaling in C. elegans. When sel-12 is expressed and active, it enables proper egg-laying activity. Deletion mutation in sel-12 causes a loss-of-function phenotype that is manifest as a propensity to show defects in egg laying. Instead, the parent takes on the "bag of worms" phenotype with the hatch of larvae being retained inside the parental carcass. The canonical deletion allele in sel-12 is (ok2078), which contains a large deletion in the gene coding region and is thought to render a knock-out (KO) of gene function. The most easily measured phenotype for the KO is an egg lay loss-of-function phenotype. To decrease the risk of background mutations, the KO strain is 4x outcrossed. The resulting outcrossed strain containing (ok2078) allele is offered as the PSEN1 RediMODEL-KO strain. The KO strain is confirmed by PCR and shipped in the RediMODEL kit format.  Included in the kit is N2 wild-type strain as a reference control.


RediMODEL Kit Details:

Each kit arrives with 3 frozen tubes of PSEN1 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 verify the RediMODEL kit.



amplicon size
wild type 500 bp
PSEN1 RediMODEL-KO 900 bp
 

Phenotype data:

Bio Assay

The RediMODEL-KO line's activity is best followed by monitoring changes in capcity to lay normal numbers of brood. Using the Timed Egg Lay Protocol (P005), a significant alteration in egg rate is observed.

Timed Egg Lay Protocol (P005)


strain Normal egg laying
N2 wild type 100%
PSEN1 RediMODEL-KO 10%

Discover PSEN1 RediMODEL-KO Kit: | $845 each kit Buy Now

Discover RediMODEL-KO Kit: | $845 each kit

Inquire on PSEN1 RediMODEL-KO

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

PSEN1 rediMODEL-KO inquiry

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

PSEN1 - presinilin

DESCRIPTION:

PSEN1 is one of the four core proteins in the gamma secretase complex involved in amyloid precursor protein cleavage which is thought to cause Alzheimer's by amyloid plaque formation in neurons. (other names: AD3, FAD, PS1, PS-1, S182)

DISEASES:

Carcinoma, Autistic Disorder, Acute Megakaryocytic Leukemias, Adenocarcinoma, Adenoid Cystic Carcinoma, Anisometropia, Asthma, Bannayan-Riley-Ruvalcaba Syndrome, Craniofacial Abnormalities, Dermatologic Disorders, Developmental Disabilities, Disease Progression, Dysplastic Gangliocytoma, Endometrial Carcinoma, Endometrial Hyperplasia, Endometrial Neoplasms, Familial meningioma, Focular Thyroid Cancer, Glioma, Hemangioma, Hereditary Breast and Ovarian Cancer, Hypertensive disease, IGA Glomerulonephritis, Insulin Resistance, Intellectual Disability, Juvenile Polyposis Syndrome, Language Development Disorders, Leopard Syndrome, Leukemia, Lhermitte-Duclos disease, Lipoma, Lipomatosis, Long QT Syndrome, Lung Neoplasms, Lymphoma, Malignant Neoplasm of Prostate, Mammary Neoplasms, Mediastinal Germ Cell Tumor, Melanoma, Meningioma, Motor Skills Disorders, Multiple Hamartoma Syndrome, Myocardial Reperfusion Injury, Nasopharyngeal Carcinoma, Neoplasm Invasiveness, Neoplasm Metastasis, Ovarian Neoplasm, Pancreatic Neoplasm, Polydactyly, Prostatic Neoplasms, Proteus Syndrome, PTEN Hamartoma Tumor Syndrome, Renal Cell Carcinoma, Reperfusion Injury, Sezary Syndrome, Small Cell Carcinoma of Lung, Squamous Cell Carcinoma.*

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

Protein domain - slc6a3 dat-1.png

HOMOLOGY:

Human Gene PSEN1 Alignment         
C. elegans Gene sel-12 align
Identity 51%
Similarity 68%
RediMODEL-KI logo sml.png

HUMANIZED C. elegans:

sel-12 is a homologous gene to PSEN1. The sel-12 gene functions to control notch signaling in C. elegans. When sel-12 is expressed and active, it enables proper egg-laying activity. Deletion mutations in sel-12  as PSEN1 RediMODEL-KO cause loss-of-function phenotype as a bag of worms defect in egg laying. To create a humanized worm,  the PSEN1 gene is swapped for the sel-12  coding segment.   Installation of PSEN1 in replacement of sel-12  causes restoration of normal egg laying phenotype and is offered as PSEN1 RediMODEL-KI. The KI strain is confirmed by PCR and shipped in the RediMODEL kit format. Included in the kit is PSEN1 RediMODEL-KO as a reference control.


RediMODEL Kit Details:

Each kit arrives with 3 frozen tubes of PSEN1 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
PSEN1 RediMODEL-KI 900 bp
 

Phenotype data:

Bio Assay

The RediMODEL-KI line's activity is best followed by monitoring changes in capcity to lay normal numbers of brood. Using the Timed Egg Lay Protocol (P005), a significant alteration in egg rate is observed.

Timed Egg Lay Protocol (P005)

strain normal brood size
PSEN1 RediMODEL-KO 10%
PSEN1 RediMODEL-KI 100%

Discover PSEN1 RediMODEL-KI Kit: | $845 each kit Buy Now

Discover RediMODEL-KI Kit: | $845 each kit

Inquire on PSEN1 RediMODEL-KI

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

PSEN1 rediMODEL-KI inquiry

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

PSEN1 - presinilin

DESCRIPTION:

PSEN1 is one of the four core proteins in the gamma secretase complex involved in amyloid precursor protein cleavage which is thought to cause Alzheimer's by amyloid plaque formation in neurons. (other names: AD3, FAD, PS1, PS-1, S182)

DISEASES:

Carcinoma, Autistic Disorder, Acute Megakaryocytic Leukemias, Adenocarcinoma, Adenoid Cystic Carcinoma, Anisometropia, Asthma, Bannayan-Riley-Ruvalcaba Syndrome, Craniofacial Abnormalities, Dermatologic Disorders, Developmental Disabilities, Disease Progression, Dysplastic Gangliocytoma, Endometrial Carcinoma, Endometrial Hyperplasia, Endometrial Neoplasms, Familial meningioma, Focular Thyroid Cancer, Glioma, Hemangioma, Hereditary Breast and Ovarian Cancer, Hypertensive disease, IGA Glomerulonephritis, Insulin Resistance, Intellectual Disability, Juvenile Polyposis Syndrome, Language Development Disorders, Leopard Syndrome, Leukemia, Lhermitte-Duclos disease, Lipoma, Lipomatosis, Long QT Syndrome, Lung Neoplasms, Lymphoma, Malignant Neoplasm of Prostate, Mammary Neoplasms, Mediastinal Germ Cell Tumor, Melanoma, Meningioma, Motor Skills Disorders, Multiple Hamartoma Syndrome, Myocardial Reperfusion Injury, Nasopharyngeal Carcinoma, Neoplasm Invasiveness, Neoplasm Metastasis, Ovarian Neoplasm, Pancreatic Neoplasm, Polydactyly, Prostatic Neoplasms, Proteus Syndrome, PTEN Hamartoma Tumor Syndrome, Renal Cell Carcinoma, Reperfusion Injury, Sezary Syndrome, Small Cell Carcinoma of Lung, Squamous Cell Carcinoma.*

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

Protein domain - slc6a3 dat-1.png

HOMOLOGY:

Human Gene PSEN1 Alignment         
C. elegans Gene sel-12 align
Identity 51%
Similarity 68%
rediMODEL-KO

C. elegans GENE:

sel-12 is a homologous gene to PSEN1. The sel-12 gene functions to control notch signaling in C. elegans. When sel-12 is expressed and active, it enables proper egg-laying activity. Deletion mutation in sel-12 as a PSEN1 RediMODEL-KO causes loss-of-function phenotype as a bag of worms defect in egg laying. Installation of PSEN1 in replacement of sel-12 results in the PSEN1 RediMODEL-KI control strain and causes restoration of normal egg laying phenotype.  A client-specified clinical variant is installed into the PSEN1 sequence of the wt-control strain.  The result is a PSEN1 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 the kit are PSEN1 RediMODEL-KO and PSEN1 RediMODEL-KI as reference controls.


RediMODEL Kit Details:

Each kit arrives with 3 frozen tubes of PSEN1 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
PSEN1 RediMODEL-CV 900 bp
 

Phenotype data:

Bio Assay

The RediMODEL-CV line's activity is best followed by monitoring changes in capcity to lay normal numbers of brood. Using the Timed Egg Lay Protocol (P005), a significant alteration in egg rate is observed.

Timed Egg Lay Protocol (P005)

strain normal brood size
PSEN1 RediMODEL-KO 10%
PSEN1 RediMODEL-CV ??%
PSEN1 RediMODEL-KI 100%

Discover PSEN1 RediMODEL-CV Kit: | $6695 each kit Buy Now

Discover RediMODEL-CV Kit: | $6695 each kit

Inquire on PSEN1 RediMODEL-CV

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

PSEN1 rediMODEL-CV inquiry

Alignment of PSEN1 to sel-12

Alignment Length Identity Similarity Gaps
424 51% 68% 10%

Lets us know if you want to model clinical variants of PSEN1 in the native sel-12 gene.

RediMODEL-KInative - sel-12 with human point mutations