Overview

These Snx17 and Lrp2 mutations 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

Snx17^b2b1625.1Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Snx17	sorting nexin 17

Lrp2^b2b1625.2Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Lrp2	low density lipoprotein receptor-related protein 2

b2b1625Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b1625Clo	Mutant line 1625

View Genetics

Research Applications

Internal/Organ Research
Developmental Biology Research
Sensorineural 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 Snx17 gene, sorting nexin 17), homozygotes demonstrate double outlet right ventricle (DORV)/overriding aorta (Ao), and atrioventricular septal defect (AVSD). Anopthalmia and duplex kidneys are also seen.

In the second phenotype (associated with the Lrp2 gene, low density lipoprotein receptor-related protein 2), persistent truncus arteriosus (PTA), aortic arch anomalies, and vascular ring are seen. Agnathia, microstomia, holoprosencephaly, omphalocele, and low set ears are also seen.

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. In the Snx17^b2b1625.1Clo allele, an A-to-G single point mutation at position 431 of the cDNA (c.A431G, NM_153680) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause an amino acid substitution at position 4144 of the encoded protein (p.E144G). In the Lrp2^b2b1625.2Clo allele, an A-to-G single point mutation at position -3 of the cDNA (c.8456-3A>G, NM_001081088) was discovered through whole exome, high throughput sequencing. This mutation is a presumed splicing mutation.

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

Snx17^b2b1625.1Clo

Allele Symbol: Snx17^b2b1625.1Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1625, subline 1 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

Snx17, sorting nexin 17

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

5

General Note

This mutation is present in a subline of b2b1625Clo.

Summative Diagnosis:
Cardiac phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), atrioventricular septal defect (AVSD)
Noncardiac phenotype: Anopthalmia, duplex kidneys

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
0600	Double outlet right ventricle
1100	Atrioventricular canal (endocardial cushion defect)
1432	Overriding aortic valve
4864	Anophthalmia

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1625Clo. The molecular lesion is an A to G substituation at coding nucleotide 431 in exon 5 of the cDNA (c.431A>G, NM_153680). This changes the glutamic acid residue to glycine at position 144 of the encoded protein (p.E144G).

Lrp2^b2b1625.2Clo

Allele Symbol: Lrp2^b2b1625.2Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1625, subline 2 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

Lrp2, low density lipoprotein receptor-related protein 2

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

2

General Note

This mutation is present in a subline of b2b1625Clo.

Summative Diagnosis:
Cardiac phenotype: Persistent truncus arteriosus (PTA), aortic arch anomalies, vascular ring
Noncardiac phenotype: Agnathia, microstomia, holoprosencephaly, omphalocele, low set ears

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
0510	Truncus arteriosus type i
4404	omphalocele
2760	Vascular ring

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1625Clo. The molecular lesion is an A to G substitution at nucleotide -3 before coding nucleotide 8456 (c.8456-3A>G, NM_001081088) in intron 44. This changes splice acceptor site AAG to TAG (which may have a different efficiency).

b2b1625Clo

Allele Symbol: b2b1625Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1625 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Tupac

Gene Symbol and Name

b2b1625Clo, Mutant line 1625

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General 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 b2b1625.1Clo and b2b1625.2Clo

Summative Diagnosis:
Mutant Type 1:
Cardiac phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), atrioventricular septal defect (AVSD)
Noncardiac phenotype: Anopthalmia, duplex kidneys

Mutant Type 2:
Cardiac phenotype: Persistent truncus arteriosus (PTA), aortic arch anomalies, vascular ring
Noncardiac phenotype: Agnathia, microstomia, holoprosencephaly, omphalocele, low set ears

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
0510	Truncus arteriosus type i
0600	Double outlet right ventricle
1100	Atrioventricular canal (endocardial cushion defect)
1432	Overriding aortic valve
4404	omphalocele
4864	Anophthalmia
2760	Vascular ring

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 b2b1625.1Clo and b2b1625.2Clo

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Internal/Organ Research
- Heart Abnormalities
- Kidney Defects
Developmental Biology Research
- Eye Defects
- Internal/Organ Defects
  - heart
  - heart: vasculature
  - kidney
Sensorineural Research
- Eye Defects
Cardiovascular Research
- Heart Abnormalities
  - cardiomyopathy
- Vascular Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: b2b1625Clo/b2b1625Clo
C57BL/6J-b2b1625Clo

cardiovascular system phenotype

atrioventricular septal defect

double outlet right ventricle

overriding aortic valve

persistent truncus arteriosus type i

vascular ring

growth/size/body region phenotype

omphalocele

renal/urinary system phenotype

duplex kidney

vision/eye phenotype

anophthalmia

Genotype: Snx17^b2b1625.1Clo/Snx17^b2b1625.1Clo
C57BL/6J-Snx17

cardiovascular system phenotype

atrioventricular septal defect

double outlet right ventricle

overriding aortic valve

persistent truncus arteriosus type i

vision/eye phenotype

anophthalmia

Genotype: Lrp2^b2b1625.2Clo/Lrp2^b2b1625.2Clo
C57BL/6J-Lrp2

cardiovascular system phenotype

persistent truncus arteriosus type i

vascular ring

growth/size/body region phenotype

omphalocele

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 - b2b1625Clo related

Additional - Lrp2^b2b1625.2Clo related

Additional - Snx17^b2b1625.1Clo 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-b2b1625Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018197 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-b2b1625Clo/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b1625Clo/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b1625Clo/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-b2b1625Clo/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.

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Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Snx17b2b1625.1Clo

Allele Symbol: Snx17b2b1625.1Clo

Lrp2b2b1625.2Clo

Allele Symbol: Lrp2b2b1625.2Clo

b2b1625Clo

Allele Symbol: b2b1625Clo

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: b2b1625Clo/b2b1625CloC57BL/6J-b2b1625Clo

cardiovascular system phenotype

growth/size/body region phenotype

renal/urinary system phenotype

vision/eye phenotype

Genotype: Snx17b2b1625.1Clo/Snx17b2b1625.1CloC57BL/6J-Snx17

cardiovascular system phenotype

vision/eye phenotype

Genotype: Lrp2b2b1625.2Clo/Lrp2b2b1625.2CloC57BL/6J-Lrp2

cardiovascular system phenotype

growth/size/body region phenotype

References

Additional - b2b1625Clo related

Additional - Lrp2b2b1625.2Clo related

Additional - Snx17b2b1625.1Clo 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

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Snx17^b2b1625.1Clo

Allele Symbol: Snx17^b2b1625.1Clo

Lrp2^b2b1625.2Clo

Allele Symbol: Lrp2^b2b1625.2Clo

Genotype: b2b1625Clo/b2b1625Clo
C57BL/6J-b2b1625Clo

Genotype: Snx17^b2b1625.1Clo/Snx17^b2b1625.1Clo
C57BL/6J-Snx17

Genotype: Lrp2^b2b1625.2Clo/Lrp2^b2b1625.2Clo
C57BL/6J-Lrp2

Additional - Lrp2^b2b1625.2Clo related

Additional - Snx17^b2b1625.1Clo related