Overview

This Frem2 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of developmental.

The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Donating Investigator

Cecilia Lo, Univ of Pittsburgh School of Medicine

Genetic overview

Genetic Background	Generation

Frem2^b2b1562Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Frem2	Fras1 related extracellular matrix protein 2

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Research Applications

Developmental Biology Research
Internal/Organ Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This A-to-G point mutation at position 6875 of the Frem2 (Fras1 related extracellular matrix protein 2) cDNA was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate a noncardiac phenotype that involves bilateral kidney agenesis, polydactly, syndactyly and malformed digits.

Development

This ENU-induced mutation was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. An A-to-G single point mutation at position 6875 of the cDNA (c.A6875G, NM_172862) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a tyrosine to cysteine amino acid substitution at position 177 of the encoded protein (p.Y2292C).

Genetics

Frem2^b2b1562Clo

Allele Symbol: Frem2^b2b1562Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1562 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Feather

Gene Symbol and Name

Frem2, Fras1 related extracellular matrix protein 2

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

3

General Note

Summative Diagnosis:
Noncardiac phenotype: Bilateral kidney agenesis, polydactly, syndactyly and malformed digits, eye defect/cryptophthalmos

Phenotypic Similarity to Human Syndrome: Fraser Syndrome

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID	Code Description
4103	Polydactyly
4174	Syndactyly
4503	Agenesis of kidneys

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 6875 in exon 11 of the cDNA (c.6875A>G, NM_172862). This changes the tyrosine residue to cysteine at position 2292 of the encoded protein (p.Y2292C).

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Fraser syndrome

Research Areas By Phenotype

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

Developmental Biology Research
- Limb Patterning Defects
- Skeletal Defects
  - polydactyly
- Internal/Organ Defects
  - kidney
Internal/Organ Research
- Kidney Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Frem2^b2b1562Clo/Frem2^b2b1562Clo
C57BL/6J-Frem2

limbs/digits/tail phenotype

polydactyly

syndactyly

renal/urinary system phenotype

absent kidney

vision/eye phenotype

cryptophthalmos

References

Additional - Frem2^b2b1562Clo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Heterozygotes are both viable and fertile.
- Additional Breeding and Husbandry Support
Citation
When using the C57BL/6J-Frem2^b2b1562Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018187 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
	The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser

Related Products and Services

Frozen Mouse Embryo	C57BL/6J-Frem2<b2b1562Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Frem2<b2b1562Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Frem2<b2b1562Clo>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Frem2<b2b1562Clo>/J Frozen Embryo	$3373.50

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

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Frem2b2b1562Clo

Allele Symbol: Frem2b2b1562Clo

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Frem2b2b1562Clo/Frem2b2b1562CloC57BL/6J-Frem2

limbs/digits/tail phenotype

renal/urinary system phenotype

vision/eye phenotype

References

Additional - Frem2b2b1562Clo related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Frem2^b2b1562Clo

Allele Symbol: Frem2^b2b1562Clo

Genotype: Frem2^b2b1562Clo/Frem2^b2b1562Clo
C57BL/6J-Frem2

Additional - Frem2^b2b1562Clo related