Overview

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

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

Psme4^b2b1508Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Psme4	proteasome (prosome, macropain) activator subunit 4

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Research Applications

Cardiovascular Research
Internal/Organ Research
Developmental Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This mutation 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 here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate congenital heart diseases associated with heterotaxy including dextrocardia/mesocardia, transposition of great artery (TGA) with tricuspid atresia, Taussig-Bing type double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), muscular VSD, right sided aortic arch (RAA), aortic arch anomalies, and duplicated inferior vena cava (IVC). Thymus hypoplasia, right pulmonary isomerism, and midline liver are also seen.

Development

This mutation, identified in an ENU screen for recessive cardiovascular development phenotypes, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.

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

Psme4^b2b1508Clo

Allele Symbol: Psme4^b2b1508Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1508 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Oscar

Gene Symbol and Name

Psme4, proteasome (prosome, macropain) activator subunit 4

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

11

General Note

Summative Diagnosis:
Cardiac phenotype: Congenital heart diseases associated with heterotaxy including dextrocardia/mesocardia, transposition of great artery (TGA) with tricuspid atresia, Taussig-Bing type double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), muscular VSD, right sided aortic arch (RAA) and aortic arch anomalies, duplicated inferior vena cava (IVC)
Noncardiac phenotype: Thymus hypoplasia, right pulmonary isomerism, midline liver
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
0190	Heterotaxy Syndrome
0400	Tricuspid atresia
0610	DORV, Taussig bing
0700	D-loop transposition of the great arteries
1100	Atrioventricular canal (endocardial cushion defect)
3804	Congenital heart disease
3950	{S,D,D}
3951	{S,D,L}
3988	{A,L,L}

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 3247 in exon 28 of the cDNA (NM_134013:c.A3247G). This changes the isoleucine residue to valine at position 1083 of the encoded protein (p.I1083V).

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

visceral heterotaxy

Research Areas By Phenotype

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

Cardiovascular Research
- Heart Abnormalities
  - cardiomyopathy
- Vascular Defects
Internal/Organ Research
- Liver Defects
- Heart Abnormalities
- Thymus Defects
Developmental Biology Research
- Internal/Organ Defects
  - heart: vasculature
  - lung
  - situs inversus
  - heart
  - liver

Mammalian Phenotype Terms by Genotype

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

Genotype: Psme4^b2b1508Clo/Psme4^b2b1508Clo
C57BL/6J-Psme4

cardiovascular system phenotype

atrioventricular septal defect

dextrocardia

double outlet right ventricle, Taussig bing type

dual inferior vena cava

mesocardia

d-loop transposition of the great arteries

muscular ventricular septal defect

right aortic arch

tricuspid valve atresia

endocrine/exocrine gland phenotype

thymus hypoplasia

growth/size/body region phenotype

right pulmonary isomerism

heterotaxia

hematopoietic system phenotype

thymus hypoplasia

immune system phenotype

thymus hypoplasia

liver/biliary system phenotype

abnormal liver morphology
- midline liver

respiratory system phenotype

right pulmonary isomerism

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

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-Psme4^b2b1508Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018206 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

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Payment Terms and Conditions

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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

Psme4b2b1508Clo

Allele Symbol: Psme4b2b1508Clo

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not 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: Psme4b2b1508Clo/Psme4b2b1508CloC57BL/6J-Psme4

cardiovascular system phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

hematopoietic system phenotype

immune system phenotype

liver/biliary system phenotype

respiratory system phenotype

References

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

Psme4^b2b1508Clo

Allele Symbol: Psme4^b2b1508Clo

Genotype: Psme4^b2b1508Clo/Psme4^b2b1508Clo
C57BL/6J-Psme4