Overview

This Sufu mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease.

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

Sufu^b2b273Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Sufu	SUFU negative regulator of hedgehog signaling

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Research Applications

Developmental Biology Research
Cardiovascular 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 T-to-A point mutation at position 5503 of the Sufu (suppressor of fused homolog (Drosophila)) 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 cardiovascular defects that involve a double outlet right ventricle (DORV), overriding aorta, perimembranous and muscular ventricular septal defect (pmVSD, mVSD), and high take-off coronary arteries. Polydactyly, microcephaly, micrognathia, cleft palate, and dome-shaped heads are also seen.

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. A T-to-A single point mutation at position 530 of the cDNA (c.T530A, NM_001025391) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a methionine to lysine amino acid substitution at position 177 of the encoded protein (p.M177K).

Selected References

Lo C. 2011. Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC) MGI Direct Data Submission (B2B/CvDC)MGI: J:175213

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Genetics

Sufu^b2b273Clo

Allele Symbol: Sufu^b2b273Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 273 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

Sufu, SUFU negative regulator of hedgehog signaling

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

19

General Note

Summative Diagnosis:
Cardiovascular defect: Double Outlet Right Ventricle (DORV), overriding aorta, perimembranous and muscular ventricular septal defect (pmVSD, mVSD), and high take-off coronary arteries.
Noncardiovascular defects: Polydactyly, microcephaly, micrognathia, cleft palate, dome shaped head.

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
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
2230	Coronary fistula (arterio-venous or arterio-cameral)
3804	Congenital heart disease
4103	Polydactyly
4876	Cleft palate

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 530 in exon 4 of the cDNA (c.530T>A, NM_001025391). This changes the methionine residue to lysine at position 177 of the encoded protein (p.M177K).

Mutations Made By

Cecilia Lo, Univ of Pittsburgh School of Medicine

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Developmental Biology Research
- Internal/Organ Defects
  - vasculature
  - situs inversus
  - heart
- Skeletal Defects
  - polydactyly
- Craniofacial and Palate Defects
Cardiovascular Research
- Vascular Defects
- Heart Abnormalities
Internal/Organ Research
- Heart Abnormalities

Mammalian Phenotype Terms by Genotype

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

Genotype: Sufu^b2b273Clo/Sufu^b2b273Clo
C57BL/6J-Sufu

digestive/alimentary phenotype

cleft palate

growth/size/body region phenotype

cleft palate

abnormal head shape
- dome shaped head

microcephaly

skeleton phenotype

micrognathia

cardiovascular system phenotype

muscular ventricular septal defect

abnormal coronary artery morphology
- high take-off coronary arteries

double outlet right ventricle

overriding aortic valve

perimembraneous ventricular septal defect

coronary fistula

craniofacial phenotype

micrognathia

abnormal head shape
- dome shaped head

cleft palate

References

Lo C. 2011. Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC) MGI Direct Data Submission (B2B/CvDC)MGI: J:175213

Additional - Sufu^b2b273Clo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Heterozygotes are viable and fertile.
- Additional Breeding and Husbandry Support
Citation
When using the C57BL/6J-Sufu^b2b273Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013611 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-Sufu<b2b273Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Sufu<b2b273Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Sufu<b2b273Clo>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Sufu<b2b273Clo>/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

Selected References

Sufub2b273Clo

Allele Symbol: Sufub2b273Clo

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Sufub2b273Clo/Sufub2b273CloC57BL/6J-Sufu

digestive/alimentary phenotype

growth/size/body region phenotype

skeleton phenotype

cardiovascular system phenotype

craniofacial phenotype

References

Additional - Sufub2b273Clo 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

Sufu^b2b273Clo

Allele Symbol: Sufu^b2b273Clo

Genotype: Sufu^b2b273Clo/Sufu^b2b273Clo
C57BL/6J-Sufu

Additional - Sufu^b2b273Clo related