Overview

This Ccdc39 mutation was 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^b2b1735Clo

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

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Research Applications

Developmental Biology Research
Internal/Organ Research
Cardiovascular Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

A T-to-A point mutation in Ccdc39 (coiled-coil domain containing 39) cDNA 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 described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate complex congenital heart disease (CHD) associated with heterotaxy such as double outlet right ventricle (DORV) with atrioventricular septal defect (AVSD), and dextrocardia associated with situs inversus totalis. Immotile airway cilia are also seen.

Development

This ENU-induced mutation was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. A T-to-A substitution at nucleotide +2 of an intron following nucleotide 357 of the cDNA (c.357+2T>A, NM_026222) was discovered through whole exome, high throughput sequencing. This mutation is presumed to be a splicing mutation.

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

Ccdc39^b2b1735Clo

Allele Symbol: Ccdc39^b2b1735Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC) mutation 1735, Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gonzo

Gene Symbol and Name

Ccdc39, coiled-coil domain containing 39

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

3

General Note

Summative Diagnosis:
Cardiac phenotype: Cardiovascular phenotype: Dextrocardia and complex congenital heart defects associated with heterotaxy, including double outlet right ventricle (DORV) with atrioventricular septal defect (AVSD), and vascular ring. Also observed are mutants with situs inversus totalis without congenital heart defects
Non-Cardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria and left lung isomerism. Also observed were micrognathia, short snout, and immotile airway cilia

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
0100	Situs inversus totalis
0110	Dextrocardia
0190	Heterotaxy syndrome
0600	Double outlet right ventricle
2050	Atrial septal defect
2760	Vascular ring
3804	Congenital heart disease
3816	Abdominal situs inversus
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4163	Micrognathia
4239	Left bronchial isomerism
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at nucleotide +2 following coding nucleotide 357 (c.357+2T>A, NM_026222) in intron 3, changing splice donor site A-GT to A-GA (wich is assumed to be much less efficient or inactive).

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

primary ciliary dyskinesia 14

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

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

Kartagener syndrome

Research Areas By Phenotype

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

Developmental Biology Research
- Internal/Organ Defects
  - situs inversus
  - heart
  - heart: vasculature
- Cell Motility Defects
Internal/Organ Research
- Heart Abnormalities
Cardiovascular Research
- Heart Abnormalities
- Vascular Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Ccdc39^b2b1735Clo/Ccdc39^b2b1735Clo
C57BL/6J-Ccdc39

cardiovascular system phenotype

atrial septal defect

double outlet right ventricle

vascular ring

dextrocardia

respiratory system phenotype

left pulmonary isomerism

immotile respiratory cilia

skeleton phenotype

micrognathia

cellular phenotype

immotile respiratory cilia

craniofacial phenotype

micrognathia

growth/size/body region phenotype

abdominal situs ambiguus

heterotaxia

abdominal situs inversus

situs inversus totalis

left 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

Additional - Ccdc39^b2b1735Clo 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-Ccdc39^b2b1735Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018229 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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Frozen Mouse Embryo	C57BL/6J-Ccdc39<b2b1735Clo>/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

Selected References

Ccdc39b2b1735Clo

Allele Symbol: Ccdc39b2b1735Clo

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

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: Ccdc39b2b1735Clo/Ccdc39b2b1735CloC57BL/6J-Ccdc39

cardiovascular system phenotype

respiratory system phenotype

skeleton phenotype

cellular phenotype

craniofacial phenotype

growth/size/body region phenotype

References

Additional - Ccdc39b2b1735Clo 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

Ccdc39^b2b1735Clo

Allele Symbol: Ccdc39^b2b1735Clo

Genotype: Ccdc39^b2b1735Clo/Ccdc39^b2b1735Clo
C57BL/6J-Ccdc39

Additional - Ccdc39^b2b1735Clo related