Overview

This single T701A point mutation in Dync2h1 (dynein cytoplasmic 2 heavy chain 1) cDNA 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

Dync2h1^b2b414Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Dync2h1	dynein cytoplasmic 2 heavy chain 1

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Research Applications

Cardiovascular Research
Developmental Biology Research
Internal/Organ Research
Sensorineural Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This single T701A point mutation in Dync2h1 (dynein cytoplasmic 2 heavy chain 1) 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 here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC), and a single lung lobe. Micrognathia, hypotelorism, duplex kidney, polydactyly, syndactyly, oligodactyly, tracheoesphageal fistula (TEF), kidney agenesis, eye malformation, and mouth malformation 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 single point mutation at position 701 of the cDNA (c.T701A) was discovered through whole exome, high throughput sequencing after in an ENU screen for recessive cardiovascular development phenotypes. This change is predicted to result in a valine to glutamate change at position 234 of the encoded protein (p.V234E).

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

Dync2h1^b2b414Clo

Allele Symbol: Dync2h1^b2b414Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 414 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Dync2h1^p.V234E; Lucifer

Gene Symbol and Name

Dync2h1, dynein cytoplasmic 2 heavy chain 1

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

9

General Note

Summative Diagnosis:
Mutant Phenotype 1: Cardiovascular defects: Pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC) and single lung lobe. Non-cardiovascular defects: Micrognathia, hypotelorism, duplex kidney, polydactyly/syndactyly/oligodactyly, and tracheoesphageal fistula (TEF).
Mutant Phenotype 2: Kidney agenesis, craniofacial anomalies.

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
0110	Dextrocardia
1081	Tetralogy of Fallot with pulmonary atresia and mapcas
1120	Complete common atrioventricular canal
1124	Balanced complete atrioventricular canal
1125	Unbalanced complete atrioventricular canal, left dominant
1140	Common atrium
2230	Coronary fistula (arterio-venous or arterio-cameral)
2810	Inferior vena cava anomaly
3100	Congenital coronary anomaly
3804	Congenital heart disease
3986	{A,D,S}
4044	VATERS/VACTERLS Syndrome
4103	Polydactyly
4163	Micrognathia
4170	Hand and/or foot anomaly
4174	Syndactyly
4202	Tracheoesophageal fistula
4232	Airway malformation
4235	Pulmonary malformation
4338	Holoprosencephaly
4503	Agenesis of kidneys
4863	Opthalmic malformation
4874	Mouth malformation

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 coding nucleotide 701 in exon 5 of the cDNA (c.701T>A, NM_029851). This changes the valine residue to glutamic acid at position 234 of the encoded protein (p.V234E).

Mutations Made By

Cecilia Lo, Univ of Pittsburgh School of Medicine

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).

asphyxiating thoracic dystrophy 3

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).

VACTERL association

Research Areas By Phenotype

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

Cardiovascular Research
- Heart Abnormalities
- Vascular Defects
Developmental Biology Research
- Internal/Organ Defects
  - vasculature
  - kidney
  - lung
  - heart
- Skeletal Defects
  - polydactyly
  - syndactyly
  - Oligodactyly
- Craniofacial and Palate Defects
Internal/Organ Research
- Kidney Defects
- Lung Defects
- Heart Abnormalities
Sensorineural Research
- Eye Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Dync2h1^b2b414Clo/Dync2h1^b2b414Clo
C57BL/6J-Dync2h1

digestive/alimentary phenotype

tracheoesophageal fistula

growth/size/body region phenotype

abnormal mouth morphology

limbs/digits/tail phenotype

polydactyly

syndactyly

abnormal autopod morphology
- Hand and/or foot anomaly

nervous system phenotype

holoprosencephaly

renal/urinary system phenotype

absent kidney

duplex kidney

respiratory system phenotype

tracheoesophageal fistula

aorta pulmonary collateral arteries

abnormal lung lobe morphology
- single lung lobe

abnormal respiratory system morphology
- Airway malformation

skeleton phenotype

micrognathia

vision/eye phenotype

abnormal eye morphology
- Opthalmic malformation

ocular hypotelorism

cardiovascular system phenotype

common atrium
- Common atrium

abnormal coronary vessel morphology

coronary fistula

complete atrioventricular septal defect
- both balanced complete atrioventricular canal and unbalanced complete atrioventricular canal, left dominant

aorta pulmonary collateral arteries

abnormal inferior vena cava morphology
- dual inferior vena cavae (IVC)

craniofacial phenotype

micrognathia

abnormal craniofacial morphology

abnormal mouth morphology

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 - Dync2h1^b2b414Clo 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-Dync2h1^b2b414Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013620 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-Dync2h1<b2b414Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dync2h1<b2b414Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Dync2h1<b2b414Clo>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Dync2h1<b2b414Clo>/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

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Dync2h1b2b414Clo

Allele Symbol: Dync2h1b2b414Clo

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).

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Dync2h1b2b414Clo/Dync2h1b2b414CloC57BL/6J-Dync2h1

digestive/alimentary phenotype

growth/size/body region phenotype

limbs/digits/tail phenotype

nervous system phenotype

renal/urinary system phenotype

respiratory system phenotype

skeleton phenotype

vision/eye phenotype

cardiovascular system phenotype

craniofacial phenotype

References

Additional - Dync2h1b2b414Clo 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

Dync2h1^b2b414Clo

Allele Symbol: Dync2h1^b2b414Clo

Genotype: Dync2h1^b2b414Clo/Dync2h1^b2b414Clo
C57BL/6J-Dync2h1

Additional - Dync2h1^b2b414Clo related