Overview

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

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

Lox^b2b370.2Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Lox	lysyl oxidase

b2b370Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b370Clo	Mutant line 370

b2b370.1Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b370.1Clo	Mutant line 370, subline 1

View Genetics

Research Applications

Developmental Biology Research
Cardiovascular Research
Internal/Organ Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

View Price List

Details

Detailed Description

This undefined b2b370Clo 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 an abnormal right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries, supravalvular aortic stenosis (narrowed ascending aorta), thickened great artery walls, biventricular hypertrophy, and pulmonary branch stenosis. Proboscis, micrognathia, no mouth, holoposencephaly, and diaphragmatic hernia are also seen.

Development

This undefined 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

View All References

Genetics

Lox^b2b370.2Clo

Allele Symbol: Lox^b2b370.2Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 370, subline 2 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Lox^{c.G854T/p.C285F}

Gene Symbol and Name

Lox, lysyl oxidase

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

18

General Note

This mutation was derived from the parent line b2b370Clo.

Summative Diagnosis:
Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis.
Non-cardiac defects: diaphragmatic hernia

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
1430	Aortic stenosis - supravalvar
1617	Pulmonary stenosis, bilateral branch pulmonary artery
2600	Systemic artery anomaly
2700	Abnormal aortic arch
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
3804	Congenital heart disease
4031	Williams sydrome
4907	Non-cardiac thoracic abnormality

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b370Clo. The molecular lesion for this subline is a G to T substitution at coding nucleotide 854 in exon 3 of the cDNA (c.854G>T, NM_010728). This changes the cysteine residue to phenylalanine at position 285 of the encoded protein (p.C285F).

b2b370Clo

Allele Symbol: b2b370Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 370 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Kitty

Gene Symbol and Name

b2b370Clo, Mutant line 370

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

Summative Diagnosis:
Different mutations causing two independently segregating phenotypes:
Mutant 1: Cardiovascular defects: Right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries. Non-cardiac defects: Noncardiac defects: Craniofacial defects - proboscis, micrognathia, no oral cavity opening (no mouth), holosproencephaly
Mutant 2 (Lox gene mutation): Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis. Non-cardiac defects: diaphragmatic hernia

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
1430	Aortic stenosis - supravalvar
1617	Pulmonary stenosis, bilateral branch pulmonary artery
2600	Systemic artery anomaly
2700	Abnormal aortic arch
2721	Right aortic arch with abnormal branching pattern
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
3804	Congenital heart disease
4031	Williams sydrome
4163	Micrognathia
4874	Mouth malformation
4907	Non-cardiac thoracic abnormality

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 b2b370.1Clo and Lox^b2b370.2Clo

Mutations Made By

Cecilia Lo, Univ of Pittsburgh School of Medicine

b2b370.1Clo

Allele Symbol: b2b370.1Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 370, subline 1 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

b2b370.1Clo, Mutant line 370, subline 1

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

This mutation was derived from the parent line b2b370Clo.

Summative Diagnosis:
Cardiovascular defects: Right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries.
Non-cardiac defects: Noncardiac defects: Craniofacial defects - proboscis, micrognathia, no oral cavity opening (no mouth), holosproencephaly

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
2600	Systemic artery anomaly
2700	Abnormal aortic arch
2721	Right aortic arch with abnormal branching pattern
3804	Congenital heart disease
4163	Micrognathia
4874	Mouth malformation
4907	Non-cardiac thoracic abnormality

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b370Clo.

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).

Williams-Beuren syndrome

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Williams-Beuren syndrome

Research Areas By Phenotype

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

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

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: b2b370.1Clo/b2b370.1Clo
C57BL/6J-b2b370.1Clo

cardiovascular system phenotype

abnormal brachiocephalic trunk morphology
- hypoplasia of brachiocephalic arteries

ascending aorta hypoplasia

right aortic arch

skeleton phenotype

micrognathia

craniofacial phenotype

absent mouth
- no oral cavity opening

micrognathia

proboscis

growth/size/body region phenotype

absent mouth
- no oral cavity opening

proboscis

nervous system phenotype

holoprosencephaly

Genotype: Lox^b2b370.2Clo/Lox^b2b370.2Clo
C57BL/6J-Lox

cardiovascular system phenotype

abnormal blood vessel morphology
- thickened great artery walls

heart left ventricle hypertrophy

heart right ventricle hypertrophy

pulmonary artery stenosis
- stenosis of bilateral branch

supravalvar aortic stenosis
- narrowed ascending aorta

growth/size/body region phenotype

heart left ventricle hypertrophy

heart right ventricle hypertrophy

muscle phenotype

diaphragmatic hernia

heart left ventricle hypertrophy

heart right ventricle hypertrophy

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

Genotype: b2b370Clo/b2b370Clo
C57BL/6J-b2b370Clo

cardiovascular system phenotype

abnormal aortic arch and aortic arch branch attachment

abnormal aortic arch morphology

abnormal blood vessel morphology
- thickened great artery walls

abnormal brachiocephalic trunk morphology
- hypoplasia of brachiocephalic arteries

ascending aorta hypoplasia

heart left ventricle hypertrophy

heart right ventricle hypertrophy

pulmonary artery stenosis
- stenosis of bilateral branch

right aortic arch

supravalvar aortic stenosis
- narrowed ascending aorta

craniofacial phenotype

abnormal mouth morphology

absent mouth
- no oral cavity opening

micrognathia

proboscis

growth/size/body region phenotype

abnormal mouth morphology

absent mouth
- no oral cavity opening

heart left ventricle hypertrophy

heart right ventricle hypertrophy

proboscis

muscle phenotype

diaphragmatic hernia

heart left ventricle hypertrophy

heart right ventricle hypertrophy

nervous system phenotype

holoprosencephaly

skeleton phenotype

micrognathia

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 - b2b370.1Clo related

Additional - b2b370Clo related

Additional - Lox^b2b370.2Clo 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-b2b370Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013616 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-b2b370Clo/J	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b370Clo/J	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b370Clo/J	$3373.50
Frozen Mouse Embryo	C57BL/6J-b2b370Clo/J	$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.

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Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Loxb2b370.2Clo

Allele Symbol: Loxb2b370.2Clo

b2b370Clo

Allele Symbol: b2b370Clo

b2b370.1Clo

Allele Symbol: b2b370.1Clo

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).

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: b2b370.1Clo/b2b370.1CloC57BL/6J-b2b370.1Clo

cardiovascular system phenotype

skeleton phenotype

craniofacial phenotype

growth/size/body region phenotype

nervous system phenotype

Genotype: Loxb2b370.2Clo/Loxb2b370.2CloC57BL/6J-Lox

cardiovascular system phenotype

growth/size/body region phenotype

muscle phenotype

Genotype: b2b370Clo/b2b370CloC57BL/6J-b2b370Clo

cardiovascular system phenotype

craniofacial phenotype

growth/size/body region phenotype

muscle phenotype

nervous system phenotype

skeleton phenotype

References

Additional - b2b370.1Clo related

Additional - b2b370Clo related

Additional - Loxb2b370.2Clo 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

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Lox^b2b370.2Clo

Allele Symbol: Lox^b2b370.2Clo

Genotype: b2b370.1Clo/b2b370.1Clo
C57BL/6J-b2b370.1Clo

Genotype: Lox^b2b370.2Clo/Lox^b2b370.2Clo
C57BL/6J-Lox

Genotype: b2b370Clo/b2b370Clo
C57BL/6J-b2b370Clo

Additional - Lox^b2b370.2Clo related