Overview

This Ccdc39 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

Ccdc39^b2b2025.1Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Ccdc39	coiled-coil domain containing 39

b2b2025Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b2025Clo	Mutant line 2025

b2b2025.2Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	b2b2025.2Clo	Mutant line 2025.2

View Genetics

Research Applications

Developmental Biology Research
Cardiovascular Research
Internal/Organ Research
Endocrine Deficiency Research
Sensorineural Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

View Price List

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 Ccdc39 gene, homozygotes demonstrate cardiovascular defects that involve heterotaxy presenting with dextrocardia/dextroversion and a spectrum of complex congenital heart disease such as superior-inferior ventricles, overriding aorta/double outlet right ventricle (DORV), DORV Taussig Bing subtype, transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), perimembranous and muscular ventricular septal defects (VSD), interrupted aortic arch (IAA), aberrant left subclavian artery forming incomplete vascular ring and dual inferior vena cava (IVC), and right/left atrial isomerism. Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria/midline stomach, hypoplastic spleen/asplenia, left lung isomerism, and midline liver are also seen. Airway cilia are immotile.

In the second phenotype (associated with b2b2025.2Clo), cardiovascular defects involve double outlet right ventricle (DORV), hypoplastic pulmonary artery, atrioventricular septal defect (AVSD), right aortic arch (RAA), ventricular non-compaction, and aberrant left subclavian artery forming incomplete vascular ring. Right microphthalmia and syndactyly 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 Ccdc39^b2b2025.1Clo allele, a G-to-T single point mutation (c.G445T) was discovered through whole exome, high throughput sequencing. This mutation is predicted to result in the introduction of a stop codon at position 4390 (p.E149X) of the expressed protein. The second mutation, b2b2025.2Clo, 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

Ccdc39^b2b2025.1Clo

Allele Symbol: Ccdc39^b2b2025.1Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC) mutation 2025, subline 1, Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

Ccdc39, coiled-coil domain containing 39

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

3

General Note

Summative Diagnosis:
Cardiovascular Phenotype: Heterotaxy presenting with dextrocardia/dextroversion and a spectrum of complex congenital heart disease such as superior-inferior ventricles, overriding aorta/double outlet right ventricle (DORV), DORV Taussig Bing subtype, transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), perimembranous and muscular ventricular septal defects (VSD), interrupted aortic arch (IAA), aberrant left subclavian artery forming incomplete vascular ring and dual inferior vena cava (IVC), and right/left atrial isomerism
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria/midline stomach, hypoplastic spleen/asplenia, left lung isomerism, and midline liver. Airway cilia are immotile

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
0606	DORV + AVSD (AV canal)
0610	DORV, Taussig bing
0110	Dextrocardia
0184	Superior-inferior ventricles (upstairs-downstairs ventricles)
0190	Heterotaxy syndrome
0800	L-loop transpostion of the great arteries
1100	Atrioventricular canal (endocardial cushion defect)
1250	Interrupted aortic arch
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1432	Overriding aortic valve
2700	Abnormal aortic arch
2730	Aberrant left subclavian artery
2760	Vascular ring
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3950	{S,D,D}
3973	{I,L,L}
3983	{A,D,D}
4239	Left bronchial isomerism
4771	Asplenia

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2025Clo. The molecular lesion for this subline is attributed to a G-to-T substitution at coding nucleotide position 445 (c.445G>T) in exon 4 of the cDNA (c.445G>T). This changes the glutamic acid residue to a stop at position 149 of the expressed protein (p.E149*).

b2b2025Clo

Allele Symbol: b2b2025Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 2025 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Absolem

Gene Symbol and Name

b2b2025Clo, Mutant line 2025

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

Summative Diagnosis:
Mutant Type 1:
Cardiovascular Phenotype: Heterotaxy presenting with dextrocardia/dextroversion and a spectrum of complex congenital heart disease such as superior-inferior ventricles, overriding aorta/double outlet right ventricle (DORV), DORV Taussig Bing subtype, transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), perimembranous and muscular ventricular septal defects (VSD), interrupted aortic arch (IAA), aberrant left subclavian artery forming incomplete vascular ring and dual inferior vena cava (IVC), and right/left atrial isomerism
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria/midline stomach, hypoplastic spleen/asplenia, left lung isomerism, and midline liver. Airway cilia are immotile

Mutant Type 2:
Cardiovascular phenotype: Double outlet right ventricle (DORV), hypoplastic pulmonary artery, atrioventricular septal defect (AVSD), right aortic arch (RAA), ventricular non-compaction, and aberrant left subclavian artery forming incomplete vascular ring
Noncardiovascular phenotype: Right microphthalmia and syndactyly

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
0606	DORV + AVSD (AV canal)
0610	DORV, Taussig bing
0110	Dextrocardia
0184	Superior-inferior ventricles (upstairs-downstairs ventricles)
0190	Heterotaxy syndrome
0800	L-loop transpostion of the great arteries
1100	Atrioventricular canal (endocardial cushion defect)
1250	Interrupted aortic arch
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1432	Overriding aortic valve
2700	Abnormal aortic arch
2730	Aberrant left subclavian artery
2760	Vascular ring
2810	Inferior vena cava anomaly
2966	Hypoplastic main pulmonary artery
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3950	{S,D,D}
3973	{I,L,L}
3983	{A,D,D}
4170	Hand and/or foot anomaly
4174	Syndactyly
4239	Left bronchial isomerism
4771	Asplenia
4877	Microphthalmia

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 Ccdc39^b2b2025.1Clo and b2b2025.2Clo

b2b2025.2Clo

Allele Symbol: b2b2025.2Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 2025, subline 2 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

b2b2025.2Clo, Mutant line 2025.2

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

UN

General Note

Summative Diagnosis:
Cardiovascular phenotype: Double outlet right ventricle (DORV), hypoplastic pulmonary artery, atrioventricular septal defect (AVSD), right aortic arch (RAA), ventricular non-compaction, and aberrant left subclavian artery forming incomplete vascular ring
Noncardiovascular phenotype: Right microphthalmia and syndactyly

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
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1802	Excessive myocardial trabeculation or noncompaction
2700	Abnormal aortic arch
2720	Right aortic arch
2730	Aberrant left subclavian artery
2760	Vascular ring
2966	Hypoplastic main pulmonary artery
4170	Hand and/or foot anomaly
4174	Syndactyly
4877	Microphthalmia

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2025Clo.

Disease/Phenotype

Disease Terms

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:

Developmental Biology Research
- Eye Defects
- Skeletal Defects
  - syndactyly
- Internal/Organ Defects
  - situs inversus
  - heart
  - heart: vasculature
  - liver
  - vasculature
  - lung
- Cell Motility Defects
Cardiovascular Research
- Vascular Defects
- Heart Abnormalities
Internal/Organ Research
- Spleen Defects
  - asplenic
- Heart Abnormalities
- Lung Defects
Endocrine Deficiency Research
- Spleen Defects
Sensorineural Research
- Eye Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: b2b2025Clo/b2b2025Clo
C57BL/6J-b2b2025Clo

cardiovascular system phenotype

abnormal aortic arch morphology

abnormal inferior vena cava morphology

abnormal myocardium compact layer morphology
- excessive myocardial trabeculation or noncompaction

atrioventricular septal defect

dextrocardia

double outlet right ventricle

double outlet right ventricle with atrioventricular septal defect

double outlet right ventricle, Taussig bing type

dual inferior vena cava

interrupted aortic arch

left atrial isomerism

muscular ventricular septal defect

overriding aortic valve

perimembraneous ventricular septal defect

pulmonary artery hypoplasia

right aortic arch

right atrial isomerism

superior-inferior ventricles

transposition of great arteries
- L-loop transposition of the great arteries

vascular ring

digestive/alimentary phenotype

right-sided stomach

growth/size/body region phenotype

heterotaxia

left atrial isomerism

left pulmonary isomerism
- left bronchial isomerism
- left lung isomerism

right atrial isomerism

right-sided stomach

hematopoietic system phenotype

absent spleen

spleen hypoplasia

immune system phenotype

absent spleen

spleen hypoplasia

limbs/digits/tail phenotype

abnormal autopod morphology

syndactyly

liver/biliary system phenotype

abnormal liver morphology

muscle phenotype

abnormal myocardium compact layer morphology
- excessive myocardial trabeculation or noncompaction

respiratory system phenotype

left pulmonary isomerism
- left bronchial isomerism
- left lung isomerism

vision/eye phenotype

microphthalmia

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 - b2b2025.2Clo related

Additional - b2b2025Clo related

Additional - Ccdc39^b2b2025.1Clo 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-b2b2025Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018257 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-b2b2025Clo/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b2025Clo/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-b2b2025Clo/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-b2b2025Clo/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

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

Credit for PRODUCTS or SERVICES

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.

Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Ccdc39b2b2025.1Clo

Allele Symbol: Ccdc39b2b2025.1Clo

b2b2025Clo

Allele Symbol: b2b2025Clo

b2b2025.2Clo

Allele Symbol: b2b2025.2Clo

Disease Terms

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: b2b2025Clo/b2b2025CloC57BL/6J-b2b2025Clo

cardiovascular system phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

hematopoietic system phenotype

immune system phenotype

limbs/digits/tail phenotype

liver/biliary system phenotype

muscle phenotype

respiratory system phenotype

vision/eye phenotype

References

Additional - b2b2025.2Clo related

Additional - b2b2025Clo related

Additional - Ccdc39b2b2025.1Clo 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

Ccdc39^b2b2025.1Clo

Allele Symbol: Ccdc39^b2b2025.1Clo

Genotype: b2b2025Clo/b2b2025Clo
C57BL/6J-b2b2025Clo

Additional - Ccdc39^b2b2025.1Clo related