Overview

Also Known As:Ngly1^R539X, C57BL/6J-Ngly1<em10(R539X)Lutzy>/J

The Ngly1^R539X allele has a 1 bp replacement in the mouse N-glycanase 1 gene that encodes a nonsense mutation, resulting in a premature stop codon. This mutation corresponds to the R542X mutation identified in the patient population as a disease causing variant in Congenital Disorders of Glycosylation Type 1v.

Donating Investigator

Cathleen Lutz, The Jackson Laboratory

Genetic overview

Genetic Background	Generation

Ngly1^em10Lutzy

Allele Type	Gene Symbol	Gene Name
Endonuclease-mediated (Humanized sequence)	Ngly1	N-glycanase 1

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Research Applications

Developmental Biology Research
Neurobiology Research
Research Tools

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

The Ngly1^R539X allele has a 1 bp replacement (CGA-to-TGA) in the mouse N-glycanase 1 gene that encodes an R539X nonsense mutation, resulting in a premature stop codon. This mutation corresponds to the R542X mutation in human patients identified as a disease causing variant in Congenital Disorders of Glycosylation Type 1v; an autosomal recessive multi-system disorder characterized by global developmental delay, hypotonia, abnormal involuntary movements and poor tear production. N-glycanase 1 is an enzyme that catalyzes the deglycosylation of misfolded N-linked glycoproteins so that they can be processed properly. Mice heterozygous for the Ngly1^R539X allele are viable and fertile. Homozygous mice are lethal. The donating investigator reports homozygotes are present in Mendelian ratios to embryonic day (E)18, and ~20% of the expected homozygotes are born but die within 1-2 days.
To date (September 2015), full characterization is in progress. As the mice are characterized, we will modify the strain description.

This mouse model is available by way of a collaborative effort between the Grace Wilsey Foundation and The Jackson Laboratory.

Development

The Ngly1^R539X allele was created by Dr. Cathleen Lutz (The Jackson Laboratory) using CRISPR/cas9 endonuclease-mediated genome editing in C57BL/6J mouse zygotes (Stock No. 000664).

Specifically, the N-glycanase 1 locus (Ngly1) on chromosome 14 was targeted with single guide RNAs designed to create a C-to-T nucleotide replacement (CGA-to-TGA) encoding an arginine 539-to-termination codon nonsense mutation (R539X).
The sgRNAs and Cas9 endonuclease were introduced into C57BL/6J-derived fertilized eggs by pronuclear injection. Embryos were transferred to pseudopregnant females, and correctly targeted pups (identified by sequencing and PCR) were bred to C57BL/6J inbred mice for germline transmission. Mice from founder 93 were further bred to C57BL/6J inbred mice to develop the colony.

Control Suggestions

Wild-type from the colony

Approximate Controls

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Ngly1^em10Lutzy

Allele Symbol: Ngly1^em10Lutzy

Allele Name	endonuclease-mediated mutation 10, Cathy Lutz
Allele Type	Endonuclease-mediated (Humanized sequence)
Allele Synonym(s)	Ngly1^R539X
Gene Symbol and Name	Ngly1, N-glycanase 1
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	14
Molecular Note	Using CRISPR/cas9 endonuclease mediated genome editing, single guide RNAs are designed to create a C-to-T nucleotide replacement (CGA-to-TGA) encoding an arginine 539-to-termination codon nonsense mutation (R539X). This mutation corresponds to the R542X mutation identified in the patient population as a disease causing variant in Congenital Disorders of Glycosylation Type 1v.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Developmental Biology Research
- Neurodevelopmental Defects
Neurobiology Research
- Neurodevelopmental Defects
- Neuromuscular defects
Research Tools
- Neurobiology Research

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Ngly1^em10Lutzy/Ngly1^em10Lutzy
C57BL/6J-Ngly1/J

mortality/aging

embryonic lethality

References

Additional - Ngly1^em10Lutzy related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- End Point Analysis:Ngly1
- End Point Analysis:Smcx/Smcy-PROBE
- Genotyping resources and troubleshooting
Breeding Considerations

When maintaining a live colony, heterozygous mice may be bred together, to wildtype littermates, or to C57BL/6J inbred mice (Stock No. 000664). Homozygous mice are lethal. The donating investigator reports homozygotes are present in Mendelian ratios to embryonic day (E)18, and ~20% of the expected homozygotes are born but die within 1-2 days.
- Additional Breeding and Husbandry Support
Mating System
- Heterozygote x Heterozygote
Citation
When using the Ngly1^R539X mouse strain in a publication, please cite the originating article(s) and include JAX stock #028221 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or wildtype for Ngly1<em10(R539X)Lutzy>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Additional Use Restrictions Apply

The use of this mouse model is subject to the terms and conditions of the Limited License from The Broad Institute.

The use of this mouse model is subject to the terms and conditions of the Limited Use Label License from Caribou Biosciences, Inc.

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

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Also Known As:Ngly1R539X, C57BL/6J-Ngly1<em10(R539X)Lutzy>/J

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Ngly1em10Lutzy

Allele Symbol: Ngly1em10Lutzy

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Mammalian Phenotype Terms by Genotype

Genotype: Ngly1em10Lutzy/Ngly1em10LutzyC57BL/6J-Ngly1/J

mortality/aging

References

Additional - Ngly1em10Lutzy related

Genotyping Protocols

Breeding Considerations

Mating System

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Additional Use Restrictions Apply

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Also Known As:Ngly1^R539X, C57BL/6J-Ngly1<em10(R539X)Lutzy>/J

Ngly1^em10Lutzy

Allele Symbol: Ngly1^em10Lutzy

Genotype: Ngly1^em10Lutzy/Ngly1^em10Lutzy
C57BL/6J-Ngly1/J

Additional - Ngly1^em10Lutzy related