Overview

This Slit3 mutation and at least one other undefined mutation were 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

b2b2362Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b2362Clo	Mutant line 2362

Slit3^b2b2362.1Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Slit3	slit guidance ligand 3

b2b2362.2Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b2362.2Clo	Mutant line 2362.2

View Genetics

Research Applications

Developmental Biology Research
Internal/Organ Research
Cardiovascular Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This mutant strain, carrying at least two mutations, 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.

Two mutant phenotypes are observed. In the first (associated with the Slit3, slit homolog 3 (Drosophila) gene), animals demonstrate double outlet right ventricle (including Taussig-Bing subtype, DORV) with atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and ventricular non-compaction. In one mutant this was accompanied by ectopia cordis. Gastroschisis with ectopia cordis is also seen. Homozygous b2b2362.2Clo animals show biventricular hypertrophy, and craniofacial defects including facial cleft/cleft lip, short snout, micrognathia, and dome shaped head.

Development

This ENU-induced mutation strain, carrying at least two mutations, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. The molecular lesion in the Slit3^b2b2362.1Clo mutation is attributed to a G-to-T single point mutation (c.G3538T, NM_011412) and is predicted to result in an amino acid substitution at codon 1180 (p.A1180S) of the expressed protein. The second mutation, b2b2362.2Clo, has not been defined.

Control Suggestions

Wild-type from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

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

View All References

Genetics

b2b2362Clo

Allele Symbol: b2b2362Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 2362 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Tell-Tale

Gene Symbol and Name

b2b2362Clo, Mutant line 2362

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

Summative Diagnosis:
Mutant Type 1:
Cardiovascular Phenotype: Double outlet right ventricle (including Taussig-Bing subtype, DORV) with atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and ventricular non-compaction. In one mutant this was accompanied by ectopia cordis.
Noncardiovascular Phenotype (one mutant): Gastroschisis with ectopia cordis, hypoplastic kidneyl with some glomerular cysts
Mutant Type 2:
Cardiovascular Phenotype: Biventricular hypertrophy
Noncardiovascular Phenotype: Craniofacial defect including facial cleft/cleft lip, short snout, micrognathia, and 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
0170	Ectopia cordis
0606	DORV + AVSD (AV canal)
0610	DORV, Taussig bing
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
4414	Gastroschisis
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4875	Cleft lip
7505	Biventricular hypertrophy

Molecular Note

This ENU-induced mutation line was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See Slit3^b2b2362.1Clo and b2b2362.2Clo

Slit3^b2b2362.1Clo

Allele Symbol: Slit3^b2b2362.1Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC) mutation 2362, subline 1, Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

Slit3, slit guidance ligand 3

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

11

General Note

Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (including Taussig-Bing subtype, DORV) with atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and ventricular non-compaction. In one mutant this was accompanied by ectopia cordis.
Noncardiovascular Phenotype (one mutant): Gastroschisis with ectopia cordis, hypoplastic kidneyl with some glomerular cysts

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
0170	Ectopia cordis
0606	DORV + AVSD (AV canal)
0610	DORV, Taussig bing
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
4414	Gastroschisis

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2362Clo. The molecular lesion for this subline is attributed to a G to T substitution at coding nucleotide postion 3538 in exon 31 of the cDNA (c.3538G>T, NM_011412). This changes the alanine residue to serine at position 1180 of the expressed protein (p.A1180S).

b2b2362.2Clo

Allele Symbol: b2b2362.2Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 2362, subline 2 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

b2b2362.2Clo, Mutant line 2362.2

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

Summative Diagnosis:
Cardiovascular Phenotype: Biventricular hypertrophy
Noncardiovascular Phenotype: Craniofacial defect including facial cleft/cleft lip, short snout, micrognathia, and 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
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4875	Cleft lip
7505	Biventricular hypertrophy

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2362Clo.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Developmental Biology Research
- Craniofacial and Palate Defects
- Skeletal Defects
  - teeth
- Internal/Organ Defects
  - heart
Internal/Organ Research
- Gastrointestinal Defects
- Heart Abnormalities
- Skeleton
  - teeth
Cardiovascular Research
- Heart Abnormalities

Mammalian Phenotype Terms by Genotype

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

Genotype: b2b2362Clo/b2b2362Clo
C57BL/6J-b2b2362Clo

craniofacial phenotype

micrognathia

facial cleft

cleft palate

short snout

cleft upper lip

abnormal head shape
- dome shaped head

digestive/alimentary phenotype

cleft palate

growth/size/body region phenotype

short snout

heart left ventricle hypertrophy

cleft palate

abnormal head shape
- dome shaped head

heart right ventricle hypertrophy

cleft upper lip

herniated abdominal wall

facial cleft

renal glomerulus cyst

muscle phenotype

heart right ventricle hypertrophy

abnormal myocardial trabeculae morphology
- Excessive myocardial trabeculation or noncompaction

heart left ventricle hypertrophy

renal/urinary system phenotype

renal hypoplasia

renal glomerulus cyst

skeleton phenotype

micrognathia

cardiovascular system phenotype

heart right ventricle hypertrophy

ectopia cordis

double outlet right ventricle with atrioventricular septal defect

double outlet right ventricle, Taussig bing type

heart left ventricle hypertrophy

ventricular septal defect

abnormal myocardial trabeculae morphology
- Excessive myocardial trabeculation or noncompaction

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 - b2b2362.2Clo related

Additional - b2b2362Clo related

Additional - Slit3^b2b2362.1Clo 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-b2b2362Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #022636 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-b2b2362Clo/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b2362Clo/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b2362Clo/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-b2b2362Clo/J Frozen Embryo	$3373.50

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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

Control Suggestions

Additional Information

Selected References

b2b2362Clo

Allele Symbol: b2b2362Clo

Slit3b2b2362.1Clo

Allele Symbol: Slit3b2b2362.1Clo

b2b2362.2Clo

Allele Symbol: b2b2362.2Clo

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: b2b2362Clo/b2b2362CloC57BL/6J-b2b2362Clo

craniofacial phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

muscle phenotype

renal/urinary system phenotype

skeleton phenotype

cardiovascular system phenotype

References

Additional - b2b2362.2Clo related

Additional - b2b2362Clo related

Additional - Slit3b2b2362.1Clo 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

Slit3^b2b2362.1Clo

Allele Symbol: Slit3^b2b2362.1Clo

Genotype: b2b2362Clo/b2b2362Clo
C57BL/6J-b2b2362Clo

Additional - Slit3^b2b2362.1Clo related